Neuronopathy, distal hereditary motor, autosomal recessive 8

Preferred Label : Neuronopathy, distal hereditary motor, autosomal recessive 8;

Symbol : HMNR8;

CISMeF acronym : SORDD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Sorbitol dehydrogenase deficiency; Neuropathy, distal hereditary motor, autosomal recessive 8; Sorbitol dehydrogenase deficiency with peripheral neuropathy; SORDD;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the sorbitol dehydrogenase gene (SORD, 182500.0001);

Laboratory abnormalities : Increased serum sorbitol;

Prefixed ID : #618912;

Details

Origin ID

618912;

UMLS CUI

C5394466;

Genes related to phenotype
- Sorbitol dehydrogenase [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Decreased amplitude of sensory action potentials [HPO term]
- Decreased motor nerve conduction velocity [HPO term]
- Difficulty walking [HPO term]
- Distal lower limb muscle weakness [HPO term]
- Distal upper limb muscle weakness [HPO term]
- Impaired pain sensation [HPO term]
- Impaired vibratory sensation [HPO term]
- Increased serum sorbitol concentration [HPO term]
- Pes cavus [HPO term]
- Proximal muscle weakness in lower limbs [HPO term]
- Scoliosis [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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