| HP:0000006 | Autosomal dominant inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators] |
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| HP:0000007 | Autosomal recessive inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
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| HP:0000982 | Palmoplantar keratoderma | |
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| HP:0001279 | Syncope | "Syncope refers to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow. This term refers to an abnormally increased disposition to syncope." [HPO:curators] |
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| HP:0001645 | Sudden cardiac death | |
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| HP:0001962 | Palpitations | |
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| HP:0002094 | Dyspnea | |
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| HP:0002224 | Woolly hair | |
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| HP:0004308 | Ventricular arrhythmia | |
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| HP:0011663 | Arrhythmogenic right ventricular cardiomyopathy | "Arrhythmogenic right ventricular cardiomyopathy (ARVC) is defined histologically by the presence of progressive replacement of right ventricular myocardium with adipose and fibrous tissue often confined to a triangle of dysplasia comprising the right ventricular inflow, outflow, and apex. While these pathologic abnormalities can result in functional and morphological right ventricular abnormalities, they also occur in the left ventricle, producing a DCM phenotype, or can be present in the absence of clinically detectable structural changes in either ventricle. For the purposes of this classification, ARVC is defined by the presence of right ventricular dysfunction (global or regional), with or without left ventricular disease, in the presence of histological evidence for the disease and/or electrocardiographic abnormalities in accordance with published criteria." [pmid:17916581] |
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