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

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

Symbol : CMT2L;

CISMeF acronym : CMT2L;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Charcot-marie-tooth neuropathy, axonal, type 2l; Charcot-marie-tooth disease, axonal, autosomal dominant, type 2l;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutations in the heat-shock 22-kD protein 8 gene (HSPB8, 608014.0003);

Prefixed ID : #608673;

Details

Origin ID

608673;

UMLS CUI

C1837552;

Automatic exact mappings (from CISMeF team)
- HSPB8 wt Allele [NCIt concept]
- heat shock protein family B (small) member 8 [ORDO Gene]
- heat shock protein family B (small) member 8 [HGNC gene]
Currated CISMeF NLP mapping
- Autosomal dominant Charcot-Marie-Tooth disease type 2I [ORDO Disease]
- Autosomal dominant Charcot-Marie-Tooth disease type 2I (disorder) [SNOMED CT concept]
- Autosomal dominant Charcot-Marie-Tooth disease type 2L [ORDO Disease]
- Autosomal dominant Charcot-Marie-Tooth disease type 2L (disorder) [SNOMED CT concept]
- Charcot-Marie-Tooth disease axonal type 2L [DO Concept]
- Charcot-Marie-Tooth disease type 2I [DO Concept]
- Charcot-Marie-Tooth disease, Type 2I [MeSH concept]
- Charcot-Marie-Tooth disease, type 2I [MeSH Supplementary Concept]
DO Cross reference
- Charcot-Marie-Tooth disease axonal type 2L [DO Concept]
Genes related to phenotype
- Heat-shock 22-kd protein 8 [OMIM gene]
HPO term(s)
- Areflexia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Decreased amplitude of sensory action potentials [HPO term]
- Decreased number of large peripheral myelinated nerve fibers [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]
- EMG: chronic denervation signs [HPO term]
- Heterogeneous [HPO term]
- Hyporeflexia [HPO term]
- Nerve biopsy shows axonal neuropathy [HPO term]
- Peripheral axonal neuropathy [HPO term]
- Pes cavus [HPO term]
- Scoliosis [HPO term]
ORDO concept(s)
- Autosomal dominant Charcot-Marie-Tooth disease type 2L [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Charcot-Marie-Tooth disease, Type 2I [MeSH concept]

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