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

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

Symbol : CMT2EE;

CISMeF acronym : CMT2EE;

Type : Phenotype, molecular basis known;

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

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the mitochondrial inner membrane protein MPV17 gene (MPV17, 137960.0008);

Laboratory abnormalities : Mildly increased serum creatine kinase (in some patients); Abnormal liver enzymes (patient A); Increased CSF lactate (in some patients);

Prefixed ID : #618400;

Details

Origin ID

618400;

UMLS CUI

C5193076;

Automatic exact mappings (from CISMeF team)
- Charcot-Marie-Tooth disease type 2EE [DO Concept]
DO Cross reference
- Charcot-Marie-Tooth disease type 2EE [DO Concept]
Genes related to phenotype
- Mitochondrial inner membrane protein mpv17 [OMIM gene]
HPO term(s)
- Areflexia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Decreased distal sensory nerve action potential [HPO term]
- Distal amyotrophy [HPO term]
- Distal muscle weakness [HPO term]
- EMG: chronic denervation signs [HPO term]
- Elevated hepatic transaminase [HPO term]
- Foot dorsiflexor weakness [HPO term]
- Gait disturbance [HPO term]
- Hammertoe [HPO term]
- Hepatic steatosis [HPO term]
- Hyporeflexia [HPO term]
- Impaired distal tactile sensation [HPO term]
- Increased CSF lactate [HPO term]
- Juvenile onset [HPO term]
- Mildly elevated creatine kinase [HPO term]
- Peripheral axonal neuropathy [HPO term]
- Pes cavus [HPO term]
- Progressive [HPO term]
- Ulnar claw [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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