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

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

Symbol : CMT2E;

CISMeF acronym : CMT2E;

Type : Phenotype, molecular basis known;

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

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the light polypeptide neurofilament protein gene (NEFL, 162280.0001);

Prefixed ID : #607684;

Details

Origin ID

607684;

UMLS CUI

C1843225;

Automatic exact mappings (from CISMeF team)
- NEFL wt Allele [NCIt concept]
- neurofilament light chain [ORDO Gene]
- neurofilament light chain [HGNC gene]
Currated CISMeF NLP mapping
- Autosomal dominant Charcot-Marie-Tooth disease type 2E [ORDO Disease]
- Autosomal dominant Charcot-Marie-Tooth disease type 2E (disorder) [SNOMED CT concept]
- Charcot-Marie-Tooth Disease Type 2E [NCIt concept]
- Charcot-Marie-Tooth disease type 2E [DO Concept]
- Charcot-Marie-Tooth disease type 2E [ICD-11 More detail]
- Charcot-Marie-Tooth disease, Type 2E [MeSH concept]
- Charcot-Marie-Tooth disease, type 2E [MeSH Supplementary Concept]
DO Cross reference
- Charcot-Marie-Tooth disease type 2E [DO Concept]
Genes related to phenotype
- Neurofilament protein, light polypeptide [OMIM gene]
HPO term(s)
- Areflexia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Decreased motor nerve conduction velocity [HPO term]
- Distal amyotrophy [HPO term]
- Distal limb muscle atrophy due to peripheral neuropathy [HPO term]
- Distal limb muscle weakness [HPO term]
- Distal limb muscle weakness due to peripheral neuropathy [HPO term]
- Distal muscle weakness [HPO term]
- Distal sensory impairment [HPO term]
- Facial palsy [HPO term]
- Flexion contracture [HPO term]
- Foot dorsiflexor weakness [HPO term]
- Foot drop [HPO term]
- Hammertoe [HPO term]
- High palate [HPO term]
- Hyporeflexia [HPO term]
- Hypotrophy of the small hand muscles [HPO term]
- Increased connective tissue [HPO term]
- Motor delay [HPO term]
- Nemaline bodies [HPO term]
- Normal or mildly decreased motor nerve conduction velocity (NCV) [HPO term]
- Pes cavus [HPO term]
- Ptosis [HPO term]
- Scoliosis [HPO term]
- Split hand [HPO term]
- Steppage gait [HPO term]
- Ulnar claw [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- Autosomal dominant Charcot-Marie-Tooth disease type 2E [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant Charcot-Marie-Tooth disease type 2E [ORDO Disease]
- Autosomal dominant Charcot-Marie-Tooth disease type 2E (disorder) [SNOMED CT concept]
- Charcot-Marie-Tooth Disease Type 2E [NCIt concept]
- Charcot-Marie-Tooth disease, Type 2E [MeSH concept]
- Charcot-Marie-Tooth disease, type 2E [MeSH Supplementary Concept]

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