" /> Neuropathy, hereditary sensory, type iic - CISMeF





Preferred Label : Neuropathy, hereditary sensory, type iic;

Symbol : HSN2C;

CISMeF acronym : HSN2C;

Type : Phenotype, molecular basis known;

Description : HSN2C is an autosomal recessive disorder characterized by onset in the first decade of progressive distal sensory loss leading to ulceration and amputation of the fingers and toes. Affected individuals also develop distal muscle weakness, primarily affecting the lower limbs (summary by Riviere et al., 2011). For a discussion of genetic heterogeneity of HSN, see HSAN1 (162400).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the kinesin family member 1A gene (KIF1A, 601255.0002);

Prefixed ID : #614213;

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30/07/2025


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