Charcot-marie-tooth disease, dominant intermediate g

Preferred Label : Charcot-marie-tooth disease, dominant intermediate g;

Symbol : CMTDIG;

CISMeF acronym : CMTDIG;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the neurofilament protein, light polypeptide gene (NEFL, 162280.0010);

Laboratory abnormalities : Increased serum creatine kinase;

Prefixed ID : #617882;

Détails

Origin ID

617882;

UMLS CUI

C4693509;

Automatic exact mappings (from CISMeF team)
- Charcot-Marie-Tooth disease dominant intermediate G [DO Concept]
- NEFL wt Allele [NCIt concept]
DO Cross reference
- Charcot-Marie-Tooth disease dominant intermediate G [DO Concept]
Genes related to phenotype
- Neurofilament protein, light polypeptide [OMIM gene]
HPO term(s)
- Areflexia [HPO term]
- Ataxia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Babinski sign [HPO term]
- Distal muscle weakness [HPO term]
- Distal sensory impairment [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Gait disturbance [HPO term]
- Gowers sign [HPO term]
- Hyporeflexia [HPO term]
- Motor delay [HPO term]
- Nystagmus [HPO term]
- Pes cavus [HPO term]
- Proximal muscle weakness [HPO term]
- Sensorimotor neuropathy [HPO term]
- Sensorineural hearing impairment [HPO term]
- Slowly progressive [HPO term]
- Spasticity [HPO term]
- Split hand [HPO term]
- Steppage gait [HPO term]
- Waddling gait [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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