ENSG00000196924


Homo sapiens

Features
Gene ID: ENSG00000196924
  
Biological name :FLNA
  
Synonyms : filamin A / FLNA / P21333
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: X
Strand: -1
Band: q28
Gene start: 154348524
Gene end: 154374638
  
Corresponding Affymetrix probe sets: 200859_x_at (Human Genome U133 Plus 2.0 Array)   213746_s_at (Human Genome U133 Plus 2.0 Array)   214752_x_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000416926
Ensembl peptide - ENSP00000408921
Ensembl peptide - ENSP00000480593
Ensembl peptide - ENSP00000353467
Ensembl peptide - ENSP00000358866
Ensembl peptide - ENSP00000358872
Ensembl peptide - ENSP00000397824
Ensembl peptide - ENSP00000398215
Ensembl peptide - ENSP00000405458
NCBI entrez gene - 2316     See in Manteia.
OMIM - 300017
RefSeq - XM_011531131
RefSeq - NM_001110556
RefSeq - NM_001456
RefSeq - XM_011531127
RefSeq - XM_011531128
RefSeq - XM_011531129
RefSeq - XM_011531130
RefSeq Peptide - NP_001104026
RefSeq Peptide - NP_001447
swissprot - P21333
swissprot - F8WE98
swissprot - H0Y5C6
swissprot - H0Y5F3
swissprot - H7C2E7
swissprot - Q60FE5
swissprot - A0A087WWY3
Ensembl - ENSG00000196924
  
Related genetic diseases (OMIM): 300321 - ?FG syndrome 2, 300321
  314400 - Cardiac valvular dysplasia, X-linked, 314400
  305620 - Frontometaphyseal dysplasia 1, 305620
  300048 - Congenital short bowel syndrome, 300048
  300049 - Heterotopia, periventricular, 300049
  309350 - Melnick-Needles syndrome, 309350
  311300 - Otopalatodigital syndrome, type I, 311300
  304120 - Otopalatodigital syndrome, type II, 304120
  300244 - Terminal osseous dysplasia, 300244
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 flnaENSDARG00000074201Danio rerio
 FlnaENSMUSG00000031328Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
FLNC / Q14315 / filamin CENSG0000012859173
FLNB / O75369 / filamin BENSG0000013606869
SYNE1 / Q8NF91 / spectrin repeat containing nuclear envelope protein 1ENSG0000013101818
SYNE2 / Q8WXH0 / spectrin repeat containing nuclear envelope protein 2ENSG0000005465416
CLMN / calmin / Q96JQ2ENSG000001659596


Protein motifs (from Interpro)
Interpro ID Name
 IPR001298  Filamin/ABP280 repeat
 IPR001589  Actinin-type actin-binding domain, conserved site
 IPR001715  Calponin homology domain
 IPR013783  Immunoglobulin-like fold
 IPR014756  Immunoglobulin E-set
 IPR017868  Filamin/ABP280 repeat-like
 IPR028559  Filamin A
 IPR036872  CH domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002576 platelet degranulation TAS
 biological_processGO:0007195 adenylate cyclase-inhibiting dopamine receptor signaling pathway IMP
 biological_processGO:0016479 negative regulation of transcription by RNA polymerase I IDA
 biological_processGO:0021943 formation of radial glial scaffolds IEA
 biological_processGO:0021987 cerebral cortex development IEA
 biological_processGO:0030030 cell projection organization IEA
 biological_processGO:0030168 platelet activation TAS
 biological_processGO:0030334 regulation of cell migration IDA
 biological_processGO:0031532 actin cytoskeleton reorganization IDA
 biological_processGO:0034329 cell junction assembly TAS
 biological_processGO:0034394 protein localization to cell surface IDA
 biological_processGO:0042177 negative regulation of protein catabolic process IMP
 biological_processGO:0042789 mRNA transcription by RNA polymerase II IEA
 biological_processGO:0042993 obsolete positive regulation of transcription factor import into nucleus IMP
 biological_processGO:0043066 negative regulation of apoptotic process IMP
 biological_processGO:0043113 receptor clustering IDA
 biological_processGO:0043123 positive regulation of I-kappaB kinase/NF-kappaB signaling HMP
 biological_processGO:0043433 negative regulation of DNA-binding transcription factor activity IDA
 biological_processGO:0044319 wound healing, spreading of cells IDA
 biological_processGO:0045184 establishment of protein localization IDA
 biological_processGO:0050821 protein stabilization IMP
 biological_processGO:0051220 cytoplasmic sequestering of protein IMP
 biological_processGO:0051764 actin crosslink formation IDA
 biological_processGO:0060271 cilium assembly IMP
 biological_processGO:0070527 platelet aggregation HMP
 biological_processGO:0071526 semaphorin-plexin signaling pathway IGI
 biological_processGO:0072659 protein localization to plasma membrane IDA
 biological_processGO:0090307 mitotic spindle assembly IDA
 biological_processGO:1900026 positive regulation of substrate adhesion-dependent cell spreading IMP
 biological_processGO:1901381 positive regulation of potassium ion transmembrane transport IDA
 biological_processGO:1905000 regulation of membrane repolarization during atrial cardiac muscle cell action potential IC
 biological_processGO:1905031 regulation of membrane repolarization during cardiac muscle cell action potential ISS
 biological_processGO:2000179 positive regulation of neural precursor cell proliferation IEA
 biological_processGO:2001046 positive regulation of integrin-mediated signaling pathway IMP
 biological_processGO:2001224 positive regulation of neuron migration IEA
 cellular_componentGO:0005576 extracellular region TAS
 cellular_componentGO:0005634 nucleus IDA
 cellular_componentGO:0005730 nucleolus IMP
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol IDA
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005884 actin filament IEA
 cellular_componentGO:0005886 plasma membrane IDA
 cellular_componentGO:0005911 cell-cell junction IDA
 cellular_componentGO:0005925 focal adhesion HDA
 cellular_componentGO:0005938 cell cortex IEA
 cellular_componentGO:0015629 actin cytoskeleton IDA
 cellular_componentGO:0016020 membrane HDA
 cellular_componentGO:0030018 Z disc ISS
 cellular_componentGO:0030863 cortical cytoskeleton IEA
 cellular_componentGO:0031523 Myb complex IDA
 cellular_componentGO:0031941 filamentous actin IDA
 cellular_componentGO:0043025 neuronal cell body IEA
 cellular_componentGO:0043198 dendritic shaft IEA
 cellular_componentGO:0048471 perinuclear region of cytoplasm IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 cellular_componentGO:0097440 apical dendrite IEA
 molecular_functionGO:0001664 G-protein coupled receptor binding IPI
 molecular_functionGO:0003723 RNA binding HDA
 molecular_functionGO:0003779 actin binding IEA
 molecular_functionGO:0004871 obsolete signal transducer activity HMP
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0008134 transcription factor binding IPI
 molecular_functionGO:0015459 potassium channel regulator activity IDA
 molecular_functionGO:0017048 Rho GTPase binding IDA
 molecular_functionGO:0017160 Ral GTPase binding IDA
 molecular_functionGO:0019900 kinase binding IPI
 molecular_functionGO:0031267 small GTPase binding IDA
 molecular_functionGO:0031852 mu-type opioid receptor binding IEA
 molecular_functionGO:0034988 Fc-gamma receptor I complex binding IDA
 molecular_functionGO:0042803 protein homodimerization activity IDA
 molecular_functionGO:0044325 ion channel binding IPI
 molecular_functionGO:0045296 cadherin binding IDA
 molecular_functionGO:0046332 SMAD binding IEA
 molecular_functionGO:0048365 Rac GTPase binding IDA
 molecular_functionGO:0051015 actin filament binding IEA
 molecular_functionGO:0051020 GTPase binding IPI


Pathways (from Reactome)
Pathway description
Platelet degranulation
GP1b-IX-V activation signalling
Cell-extracellular matrix interactions
RHO GTPases activate PAKs


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000028 Cryptorchidism "Absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the testis." [HPO:curators]
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 HP:0000047 Hypospadias "Displacement of the urethral opening on the ventral (inferior) surface of the penis." [HPO:curators]
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 HP:0000071 Ureteral stenosis 
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 HP:0000072 Hydroureter "The distention of the ureter with urine." [HPO:curators]
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 HP:0000076 Vesicoureteral reflux "Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes." [HPO:curators]
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 HP:0000126 Hydronephrosis 
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 HP:0000160 Microstomia "The presence of an abnormally small `mouth` (FMA:49184)." [HPO:curators]
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 HP:0000162 Glossoptosis 
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 HP:0000175 Cleft palate "Cleft palate is a developmental defect of the `palate` (FMA:54549) resulting from a failure of fusion of the palatine processes." [HPO:curators]
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 HP:0000190 Frenular abnormality "An abnormality of the lingual frenulum, that is of the small fold of mucous membrane that attaches the tongue to the floor of the mouth." [HPO:probinson]
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 HP:0000201 Pierre-Robin sequence 
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 HP:0000218 High palate "Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective)." [pmid:19125428]
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 HP:0000238 Hydrocephalus 
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 HP:0000239 Large fontanelles "In newborns, the two frontal bones, two parietal bones, and one occipital bone are joined by fibrous sutures, which form a small posterior fontanelle, and a larger, diamond-shaped anterior fontanelle. These regions allow for the skull to pass the birth canal and for later growth. The fontanelles gradually ossify, whereby the posterior fontanelle usually closes by eight weeks and the anterior fontanelle by the 9th to 16th month of age. Large fontanelles are diagnosed if the fontanelles are larger than age-dependent norms." [HPO:curators]
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 HP:0000260 Wide anterior fontanel "Enlargement of the anterior fontanelle with respect to age-dependent norms." [HPO:curators]
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 HP:0000269 Prominent occiput 
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 HP:0000270 Delayed closure of fontanelles "Infants normally have two fontanels at birth, the diamond-shaped anterior fontanelle at the junction of the coronal and sagittal sutures, and the posterior fontanelle at the intersection of the occipital and parietal bones. The posterior fontanelle usually closes by the 8th week of life, and the anterior fontanel closes by the 18th month of life on average. This term applies if there is delay of closure of the fontanelles beyond the normal age." [HPO:curators]
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 HP:0000272 Malar hypoplasia "Underdeveloped midface region." [HPO:curators]
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 HP:0000274 Small face 
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 HP:0000280 Coarse facial features 
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 HP:0000283 Broad face 
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 HP:0000293 Full cheeks 
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 HP:0000307 Pointed chin 
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 HP:0000316 Hypertelorism 
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 HP:0000319 Flat philtrum 
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 HP:0000324 Facial asymmetry 
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 HP:0000331 Small chin 
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 HP:0000336 Prominent supraorbital ridges "Abnormal prominence of the supraorbital ridges, which are bony ridge located above the eye sockets in the area of the eyebrows." [HPO:curators]
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 HP:0000337 Broad forehead "Abnormally large side-to-side distance of the forehead." [HPO:curators]
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 HP:0000347 Mandibular hypoplasia "Underdevelopment of the mandible." [HPO:curators]
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 HP:0000358 Posteriorly rotated ears "A type of `abnormal location of the ears` (HP:0000357) in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front)." [HPO:probinson]
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 HP:0000365 Hearing loss 
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 HP:0000369 Low-set ears "Low-set ears are defined to be set below an arbitrary line drawn between the lateral canthus of the eye and the occipital protruberance." [HPO:curators]
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 HP:0000377 Abnormal form of ears "Abnormal form of the out part of the ear (also referred to as the auricle or pinna)." [HPO:curators]
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 HP:0000400 Large ears 
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 HP:0000403 Recurrent otitis media 
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 HP:0000405 Hearing loss, conductive 
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 HP:0000407 Hearing loss, sensorineural "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators]
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 HP:0000431 Broad nasal bridge "Increased horizontal dimension of the upper, bony part of the nose." [HPO:curators]
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 HP:0000472 Long neck 
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 HP:0000486 Strabismus "Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other." [HPO:curators]
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 HP:0000494 Downward slanting palpebral fissures 
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 HP:0000508 Ptosis "Drooping of the eyelid." [HPO:curators]
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 HP:0000518 Cataract "A cataract is an opacity or clouding that develops in the crystalline `lens` (FMA:58241) of the eye or in its `capsule` (FMA:58881)." [HPO:probinson]
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 HP:0000520 Proptosis 
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 HP:0000612 Iris coloboma "A `coloboma` (HP:0000589) of the `iris` (FMA:58235)." [HPO:probinson]
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 HP:0000674 Anodontia "The congenital absence of all teeth." [HPO:curators]
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 HP:0000677 Oligodontia "The condition of missing over 6 teeth (Missing up to 6 teeth is referred to a hypodontia)." [HPO:curators]
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 HP:0000684 Delayed dentition "Delayed eruption of teeth." [HPO:curators]
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 HP:0000689 Dental malocclusion "Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns." [HPO:curators]
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 HP:0000692 Misalignment of teeth 
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 HP:0000750 Impaired language development 
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 HP:0000767 Pectus excavatum "A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance." [HPO:curators]
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 HP:0000772 Abnormality of the ribs 
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 HP:0000773 Short ribs 
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 HP:0000774 Narrow chest 
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 HP:0000882 Hypoplastic scapulae 
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 HP:0000894 Short clavicles 
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 HP:0000926 Platyspondyly 
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 HP:0000944 Abnormality of the metaphyses 
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 HP:0000946 Hypoplastic ilia 
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 HP:0000963 Thin skin 
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 HP:0001000 Abnormality of skin pigmentation 
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 HP:0001006 Hypotrichosis "Reduced or lacking hair growth." [HPO:curators]
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 HP:0001007 Hirsutism "Abnormally increased hair growth." [HPO:curators]
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 HP:0001087 Congenital glaucoma 
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 HP:0001156 Brachydactyly 
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 HP:0001162 Postaxial polydactyly (hands) "Supernumerary digits located at the ulnar side of the hand." [HPO:curators]
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 HP:0001163 Abnormality of the metacarpal bones 
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 HP:0001166 Arachnodactyly "Abnormally long and slender fingers ("spider fingers")." [HPO:curators]
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 HP:0001239 Wrist contractures 
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 HP:0001241 Capitate-hamate fusion 
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 HP:0001249 Mental retardation 
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 HP:0001250 Seizures "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson]
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 HP:0001256 Mental retardation, mild "Mild mental retardation is defined as an intelligence quotient (IQ) in the range of 50-69." [HPO:curators]
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 HP:0001263 Developmental retardation "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators]
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 HP:0001264 Spastic diplegia "Spasticity (neuromuscular hypertonia) primarily in the muscles of the legs, hips, and pelvis." [HPO:curators]
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 HP:0001270 Motor retardation 
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 HP:0001288 Gait disturbance "The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease." [HPO:curators]
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 HP:0001297 Stroke 
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 HP:0001319 Neonatal hypotonia "Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period." [HPO:curators]
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 HP:0001321 Cerebellar hypoplasia 
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 HP:0001363 Craniosynostosis "Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth." [HPO:curators]
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 HP:0001374 Congenital hip dislocation 
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 HP:0001376 Decreased mobility of joints 
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 HP:0001377 Limited elbow extension 
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 HP:0001382 Joint hypermobility "The ability of a joint to move beyond its normal range of motion." [HPO:curators]
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 HP:0001387 Joint stiffness "Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time." [HPO:curators]
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 HP:0001417 X-linked inheritance "A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome." [HPO:curators]
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 HP:0001419 X-linked recessive inheritance "A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele." [HPO:curators]
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 HP:0001423 X-linked dominant inheritance "A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation." [HPO:curators]
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 HP:0001476 Delayed closure of the anterior fontanelle "A delay in closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life." [HPO:curators]
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 HP:0001508 Failure to thrive 
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 HP:0001539 Omphalocele 
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 HP:0001571 Multiple impacted teeth 
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 HP:0001592 Selective tooth agenesis 
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 HP:0001607 Subglottic stenosis 
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 HP:0001609 Hoarse voice 
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 HP:0001634 Mitral valve prolapse 
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 HP:0001635 Congestive heart failure "The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction." [HPO:curators]
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 HP:0001643 Patent ductus arteriosus 
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 HP:0001647 Bicuspid aortic valve "The presence of a bicuspid `aortic valve` (FMA:7236)." [HPO:probinson]
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 HP:0001648 Cor pulmonale 
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 HP:0001653 Mitral regurgitation "An `abnormality of the mitral valve` (HP:0001633) characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction." [HPO:probinson]
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 HP:0001654 Abnormality of the heart valves "An abnormality of a `Cardiac valve` (FMA:7110)." [HPO:probinson]
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 HP:0001659 Aortic insufficiency "An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle." [HPO:curators]
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 HP:0001671 Abnormality of the cardiac septa 
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 HP:0001704 Tricuspid valve prolapse 
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 HP:0001762 Talipes equinovarus "Also called clubfoot typically has 4 main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg. Clubfoot is a complex, multifactorial deformity with genetic and intrauterine factors. One popular theory postulates that a clubfoot is a result of intrauterine maldevelopment of the talus that leads to adduction and plantarflexion of the foot. On radiographic projection a clubfoot can be noted as parallel axes of talus and calcaneus." [HPO:curators]
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 HP:0001763 Pes planus "A condition in which the arch of the foot is flat, with the entire sole of the foot being in near-complete contact with the ground." [HPO:curators]
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 HP:0001770 Toe syndactyly "Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are revered to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are refered to as "Symphalangism"." [HPO:curators]
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 HP:0001782 Tree-frog feet 
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 HP:0001831 Brachydactyly (feet) 
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 HP:0001833 Large feet 
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 HP:0001836 Camptodactyly (feet) 
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 HP:0001838 Vertical talus 
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 HP:0001850 Abnormality of the tarsal bones "An abnormality of the tarsus are the cluster of seven bones in the foot between the tibia and fibula and the metatarsus, including the calcaneus (heel) bone and the talus (ankle) bone." [HPO:curators]
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 HP:0001852 Gap between first and second toes "The presence of a larger than normal gap between the first and second toes related to medial displacement of the first toe." [HPO:curators]
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 HP:0001863 Clinodactyly (feet) 
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 HP:0001873 Thrombocytopenia 
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 HP:0001892 Bleeding diathesis "An abnormal susceptibility to bleeding because of a defect in coagulation." [HPO:curators]
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 HP:0001939 Metabolism abnormality 
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 HP:0001999 Facial dysmorphism 
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 HP:0002003 Large forehead 
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 HP:0002007 Frontal bossing "The presence of an unusually prominent forehead." [HPO:curators]
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 HP:0002013 Vomiting 
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 HP:0002019 Constipation 
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 HP:0002020 Gastroesophageal reflux 
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 HP:0002021 Pyloric stenosis 
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 HP:0002084 Encephalocele 
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 HP:0002089 Pulmonary hypoplasia 
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 HP:0002092 Pulmonary hypertension 
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 HP:0002093 Respiratory insufficiency 
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 HP:0002164 Nail dysplasia 
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 HP:0002205 Recurrent respiratory infections 
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 HP:0002208 Coarse hair 
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 HP:0002269 Neuronal migration disorder 
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 HP:0002282 Heterotopia 
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 HP:0002475 Meningomyelocele 
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 HP:0002566 Intestinal malrotation "An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis." [HPO:curators]
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 HP:0002645 Wormian bones 
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 HP:0002650 Scoliosis "The presence of an abnormal lateral curvature of the spine." [HPO:curators]
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 HP:0002652 Skeletal dysplasia 
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 HP:0002673 Coxa valga "Coxa valga is a deformity of the hip in which the angle between the femoral shaft and the femoral neck is increased compared to age-adjusted values (about 150 degrees in newborns gradually reducing to 120-130 degrees in adults)." [HPO:curators]
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 HP:0002684 Thickened calvaria "The presence of an abnormally thick calvaria." [HPO:curators]
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 HP:0002688 Absent frontal sinuses 
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 HP:0002694 Sclerotic skull base 
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 HP:0002700 Large foramen magnum "An abnormal increase in the size of the foramen magnum." [HPO:curators]
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 HP:0002737 Thick skull base 
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 HP:0002738 Hypoplastic frontal sinuses 
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 HP:0002751 Kyphoscoliosis 
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 HP:0002777 Tracheal stenosis 
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 HP:0002827 Dislocated hips 
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 HP:0002828 Multiple joint contractures 
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 HP:0002857 Genu valgum 
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 HP:0002869 Flared iliac wings 
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 HP:0002878 Early respiratory failure 
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 HP:0002879 Anisospondyly 
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 HP:0002949 Fused cervical vertebrae 
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 HP:0002980 Femoral bowing "Bowing (abnormal curvature) of the femur." [HPO:curators]
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 HP:0002982 Tibial bowing "A developmental defect with posteromedial tibial angulation." [HPO:curators]
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 HP:0002986 Radial bowing 
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 HP:0002987 Elbow contractures 
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 HP:0002990 Fibular aplasia "Absence of the fibula." [HPO:curators]
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 HP:0002999 Dislocation of patella "The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar dislocation occurs if the patella fully dislocates out of the groove." [HPO:curators]
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 HP:0003015 Metaphyseal flaring "The presence of splayed (i.e.,flared) metaphyseal segments of the long bones." [HPO:curators]
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 HP:0003031 Ulnar bowing "Bending of the diaphysis (shaft) of the ulna, usually in the convex posterior direction." [HPO:curators]
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 HP:0003042 Elbow dislocation "A dislocation affecting the elbow joint, where the radius, ulna, and humerus meet." [HPO:curators]
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 HP:0003083 Dislocated radial head "A dislocation of the head of the radius from its socket in the elbow joint." [HPO:curators]
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 HP:0003103 Abnormality of cortical bone "An abnormality of cortical bone (also known as compact bone), which forms the dense surface of bones." [HPO:curators]
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 HP:0003172 Abnormality of the pubic bones 
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 HP:0003196 Nasal hypoplasia "Underdevelopment of the `nose` (FMA:46472)." [HPO:probinson]
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 HP:0003202 Amyotrophy "The presence of muscular atrophy (which is also known as amyotrophy)." [HPO:curators]
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 HP:0003256 Abnormalities of the clotting factors 
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 HP:0003270 Abdominal distention "Enlargement or distention of the abdomen, which can be a secondary feature associated with a number of conditions such as bowel obstruction." [HPO:curators]
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 HP:0003304 Spondylolysis 
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 HP:0003312 Abnormal form of the vertebral bodies 
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 HP:0003593 Early onset 
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 HP:0003691 Scapular winging 
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 HP:0003779 Antegonial notching of mandible 
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 HP:0003826 Stillborn or neonatal death 
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 HP:0003834 Shoulder dislocation "A displacement or misalignment of the humerus with respect to the other bones of the should joint. Note that a subluxation is a partial dislocation." [HPO:curators]
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 HP:0004232 Accessory carpal bones "The presence of more than the normal number of carpal bones." [HPO:curators]
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 HP:0004279 Hypoplastic hand 
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 HP:0004322 Decreased body height "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators]
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 HP:0004389 Intestinal pseudo-obstruction 
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 HP:0004493 Craniofacial hyperostosis "Hyperostosis refers to a localized bone overgrowth process (as opposed to sclerosis, which refers to a generalized disturbance with increased bone density). This term is used for excessive growth of the craniofacial bones." [HPO:curators]
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 HP:0004608 Anteriorly placed odontoid process 
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 HP:0004611 Anterior concavity of thoracic vertebrae 
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 HP:0004942 Aortic aneurysms 
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 HP:0004987 Mesomelia of the lower limbs "Shortening of the middle parts of the leg in relation to the upper and terminal segments." [HPO:sdoelken]
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 HP:0005011 Mesomelia of the upper limbs "Shortening of the middle parts of the arm in relation to the upper and terminal segments." [HPO:sdoelken]
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 HP:0005048 fusion of carpal bones, especially capitate and hamate 
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 HP:0005090 lateral femoral bowing 
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 HP:0005180 Tricuspid insufficiency 
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 HP:0005245 Hypoplastic intestines 
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 HP:0005280 Depressed nasal root and bridge 
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 HP:0005446 Small mandible with obtuse angle 
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 HP:0005453 Absent/hypoplastic paranasal sinuses 
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 HP:0005616 Accelerated skeletal maturation "An abnormally increased rate of skeletal maturation. Accelerated skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body." [HPO:curators]
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 HP:0005640 Abnormal vertebral segmentation and fusion 
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 HP:0005692 Joint hyperflexibility 
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 HP:0005792 Humeral hypoplasia 
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 HP:0006000 Ureteral obstruction 
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 HP:0006155 Wide and elongated phalanges 
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 HP:0006160 Hypoplastic, irregular metacarpals 
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 HP:0006207 Partial fusion of carpals 
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 HP:0006335 Delayed loss of deciduous teeth 
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 HP:0006380 Knee flexion deformities 
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 HP:0006381 Rudimentary fibula 
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 HP:0006389 Limited knee flexion 
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 HP:0006440 Increased density of long bone diaphyses 
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 HP:0006466 Contractures of the ankles 
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 HP:0006482 Abnormality of dental morphology 
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 HP:0006487 Bowing of the long bones 
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 HP:0006665 Coat hanger deformity of lower ribs 
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 HP:0006692 Short and irregular chordae 
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 HP:0006695 Tricuspid and mitral valves are replaced by a single inlet valve 
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 HP:0007165 Periventricular gray matter heterotopias "A form of gray matter heterotopia were the mislocalised gray matter is typically located periventricularly, also sometimes called subependymal heterotopia. Periventricular means beside the ventricles. This is by far the most common location for heterotopia. Subependymal heterotopia present in a wide array of variations. They can be a small single node or a large number of nodes, can exist on either or both sides of the brain at any point along the higher ventricle margins, can be small or large, single or multiple, and can form a small node or a large wavy or curved mass. Periventricular gray matter heterotopia can be seen for example in patients with Smith-Lemli-Opitz-Syndrome." [HPO:curators]
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 HP:0007359 Partial seizures "Recurrent partial `seizures` (HP:0001250). In a partial seizure, the electrical disturbance is limited to one part or side of the brain. That is, partial epilepsies are epileptic disorders in which clinical or laboratory findings disclose a localized origin of seizures." [HPO:curators]
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 HP:0008087 Nonossified fifth metatarsal "The presence of a fifth metatarsal bone that has not undergone ossification at an age when ossification is usually visible." [HPO:curators]
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 HP:0008089 Anomalous fifth metatarsal 
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 HP:0008097 Partial fusion of tarsals 
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 HP:0008127 Bipartite calcaneus "Bipartite calcaneus is a rarely observed radiographic finding that probably results from delayed coalescence of two primary calcaneal centers of ossification." [HPO:curators]
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 HP:0008368 Synostosis involving tarsal bones 
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 HP:0008404 Nail dystrophy, variable 
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 HP:0008451 Posterior vertebral hypoplasia 
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 HP:0008661 Urethral stenosis 
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 HP:0008872 Feeding problems in infancy 
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 HP:0008897 Growth retardation, progressive 
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 HP:0009004 Muscle hypoplasia "Underdevelopment of the musculature." [HPO:curators]
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 HP:0009465 Ulnar deviation of fingers 
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 HP:0009467 Radial deviation of the 2nd finger "Displacement of the 2nd finger towards the radial side." [HPO:curators]
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 HP:0009623 Proximally placed thumb "Proximally displaced thumb." [HPO:curators]
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 HP:0009642 Broad distal phalanx of the thumb "Increased width of the distal phalanx of the thumb." [HPO:curators]
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 HP:0009650 Hypoplastic/small distal phalanx of the thumb "Hypoplastic/small distal/terminal phalanx of the thumb." [HPO:curators]
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 HP:0009768 Broad phalanges of the hand "Increased width of the phalanges of the hand." [HPO:curators]
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 HP:0009771 Osteolytic defects of the phalanges of the hand "Dissolution or degeneration of bone tissue of the phalanges of the hand." [HPO:curators]
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 HP:0009778 Hypoplastic/small thumb 
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 HP:0009804 Reduced number of teeth 
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 HP:0009882 Hypoplasia of the distal phalanges of the hand 
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 HP:0010041 Hypoplastic/short 3rd metacarpal 
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 HP:0010044 Hypoplastic/short 4th metacarpal 
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 HP:0010047 Hypoplastic/short 5th metacarpal 
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 HP:0010049 Hypoplastic/short metacarpal bones 
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 HP:0010055 Broad hallux 
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 HP:0010103 Hypoplastic/small distal phalanx of the hallux 
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 HP:0010109 Hypoplastic/small hallux 
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 HP:0010230 Cone-shaped epiphyses of the phalanges of the hand "A cone-shaped appearance of the epiphyses of the fingers of the hand, producing a ball-in-a-socket appearance. The related entity angel-shaped epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx." [HPO:curators]
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 HP:0010306 Short thorax "Reduced inferior to superior extent of the thorax." [HPO:curators]
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 HP:0010307 Stridor "Stridor is a high pitched sound resulting from turbulent air flow in the upper airway." [HPO:curators]
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 HP:0010493 Increased length of metacarpals "An abnormally increased length of the metacarpal bones." [HPO:curators]
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 HP:0010557 Overlapping fingers "Overlapping of the fingers occuring as the result of a deviation of the fingers from their normal position." [HPO:curators]
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 HP:0010559 Vertical clivus "An abnormal vertical orientation of the clivus (which normally forms a kind of slope from the sella turcica down to the region of the foramen magnum)." [HPO:curators]
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 HP:0010560 Undulate clavicles "An abnormally wavy surface or edge of the clavicles." [HPO:curators]
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 HP:0010614 Fibroma "Benign tumors that are composed of fibrous or connective tissue. They can grow in all organs, arising from mesenchyme tissue. The term "fibroblastic" or "fibromatous" is used to describe tumors of the fibrous connective tissue. When the term fibroma is used without modifier, it is usually considered benign, with the term fibrosarcoma reserved for malignant tumors." [HPO:curators]
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 HP:0010660 Abnormality of the mineralisation and ossification of bones of the hand 
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 HP:0010675 Abnormality of the mineralisation and ossification of bones of the feet 
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 HP:0010743 Hypoplasia of the metatarsal bones 
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 HP:0011001 Increased bone mineral density "An abnormal increase of bone mineral density, that is, of the amount of matter per cubic centimeter of bones which is often refered to as osteosclerosis. Osteosclerosis can be detected on radiological examination as an increased whiteness (density) of affected bones." [HPO:curators]
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 HP:0011220 Prominent forehead "Forward prominence of the entire forehead, due to protrusion of the frontal bone." [pmid:19125436]
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 HP:0011246 Underdeveloped superior crus of antihelix "Decreased protrusion of the superior crus relative to the prominence of a normal antihelix stem." [pmid:19152421]
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 HP:0011304 Broad thumb "Increased thumb width without increased dorso-ventral dimension." [pmid:19125433]
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 HP:0011335 Frontal hirsutism "Excessive amount of hair growth on forehead." [DDD:jclayton-smith]
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 HP:0011355 Localized skin lesion "A lesion of the skin that is located in a specific region rather than being generalized." [DDD:cmoss]
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 HP:0011580 Short chordae tendineae of the mitral valve "Abnormally short `chordae tendineae` (FMA:76527) of the mitral valve." [HPO:probinson]
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 HP:0011800 Midface retrusion "Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle." [DDD:jclayton-smith]
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 HP:0011877 Increased mean platelet volume "Average platelet volume above the upper limit of the normal reference interval." [DDD:wouwehand]
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 HP:0012368 Flat face "Absence of concavity or convexity of the face when viewed in profile." [pmid:19125436]
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 HP:0030889 Congenital shortened small intestine "Substantially shortened length of the small intestine as a result of a developmental defect." [PMID:18209785]
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 HP:0040309 Increased size of the mandible 
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 HP:0100258 Preaxial polydactyly "A form of polydactyly in which the extra digit or digits are localized on the side of the thumb or great toe." [HPO:probinson]
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 HP:0100490 Camptodactyly (hands) "Contractures of one ore more joints of the fingers." [HPO:sdoelken]
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 HP:0100543 Cognitive impairment "Abnormality in the process of thought including the ability to process information." [HPO:sdoelken]
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 HP:0100578 Lipoatrophy "Localized loss of fat tissue." [HPO:sdoelken]
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 HP:0100627 Displacement of the external urethral meatus "A displacement of the external urethral orifice from its normal position (in males normally placed at the tip of glans penis, in females normally placed about 2.5 cm behind the glans clitoridis and immediately in front of that of the vagina)." [HPO:sdoelken]
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 HP:0100790 Hernia 
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 HP:0100807 Long fingers "The middle finger is more than 2 SD above the mean for newborns 27 to 41 weeks EGA or above the 97th centile for children from birth to 16 years of age AND the five digits retain their normal length proportions relative to each other (i.e., it is not the case that the middle finger is the only lengthened digit), or, Fingers that appear disproportionately long compared to the palm of the hand." [pmid:19125433]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000110799 VWF / P04275 / von Willebrand factor  / reaction / complex
 ENSG00000169704 GP9 / P14770 / glycoprotein IX platelet  / complex / reaction
 ENSG00000149269 PAK1 / Q13153 / p21 (RAC1) activated kinase 1  / reaction / complex
 ENSG00000185245 GP1BA / P07359 / glycoprotein Ib platelet alpha subunit  / reaction / complex
 ENSG00000184009 ACTG1 / P63261 / actin gamma 1  / reaction / complex
 ENSG00000075624 ACTB / P60709 / actin beta  / complex / reaction
 ENSG00000135828 Q05823 / RNASEL / ribonuclease L  / reaction / complex
 ENSG00000196924 FLNA / P21333 / filamin A  / complex / reaction
 ENSG00000162458 FBLIM1 / Q8WUP2 / filamin binding LIM protein 1  / reaction / complex
 ENSG00000203618 GP1BB / P13224 / glycoprotein Ib platelet beta subunit  / reaction / complex
 ENSG00000178732 GP5 / P40197 / glycoprotein V platelet  / complex / reaction






 

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© Olivier Tassy / Olivier Pourquie 2007-2024
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