Neuropathy, hereditary motor and sensory, type vic, with optic atrophy

Preferred Label : Neuropathy, hereditary motor and sensory, type vic, with optic atrophy;

Symbol : HMSN6C;

CISMeF acronym : HMSN6C;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hmsn vic; Charcot-marie-tooth disease, type 6c; CMT6C;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the pyridoxal kinase gene (PDXK, 179020.0001);

Prefixed ID : #618511;

Details

Origin ID

618511;

UMLS CUI

C5193137;

Genes related to phenotype
- Pyridoxal kinase [OMIM gene]
HPO term(s)
- Areflexia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Hammertoe [HPO term]
- Pes cavus [HPO term]
- Progressive [HPO term]
- Visual impairment [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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