Charcot-marie-tooth disease, axonal, type 2cc

Preferred Label : Charcot-marie-tooth disease, axonal, type 2cc;

Symbol : CMT2CC;

CISMeF acronym : CMT2CC;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Charcot-marie-tooth neuropathy, type 2cc;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the neurofilament protein, heavy polypeptide gene (NEFH, 162230.0002);

Laboratory abnormalities : Increase serum creatine kinase (in some patients);

Prefixed ID : #616924;

Details

Origin ID

616924;

UMLS CUI

C4310790;

CISMeF manual mappings
- Charcot-Marie-Tooth disease axonal type 2CC [DO Concept]
DO Cross reference
- Charcot-Marie-Tooth disease axonal type 2CC [DO Concept]
Genes related to phenotype
- Neurofilament protein, heavy polypeptide [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Babinski sign [HPO term]
- Distal sensory impairment [HPO term]
- EMG: neuropathic changes [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Frequent falls [HPO term]
- Hyporeflexia [HPO term]
- Impaired vibratory sensation [HPO term]
- Increased variability in muscle fiber diameter [HPO term]
- Lower limb amyotrophy [HPO term]
- Lower limb muscle weakness [HPO term]
- Muscle fiber splitting [HPO term]
- Myopathy [HPO term]
- Pes cavus [HPO term]
- Progressive [HPO term]
- Proximal muscle weakness [HPO term]
- Pyloric stenosis [HPO term]
- Ragged-red muscle fibers [HPO term]
- Rimmed vacuoles [HPO term]
- Sensorimotor neuropathy [HPO term]
- Sensory axonal neuropathy [HPO term]
- Somatic sensory dysfunction [HPO term]
- Upper limb amyotrophy [HPO term]
- Upper limb muscle weakness [HPO term]
- Variable expressivity [HPO term]
- Waddling gait [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Charcot-Marie-Tooth disease axonal type 2CC [DO Concept]

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