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

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

Symbol : CMT2B;

CISMeF acronym : CMT2B; HMSN IIB; HMSN2B;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Charcot-marie-tooth disease, autosomal dominant, type 2b; HMSN2B; Hmsn iib; Charcot-marie-tooth neuropathy, type 2b; Hereditary motor and sensory neuropathy iib;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the RAS-associated protein RAB7 (602298.0001);

Prefixed ID : #600882;

Details

Origin ID

600882;

UMLS CUI

C1833219;

Automatic exact mappings (from CISMeF team)
- RAB7A wt Allele [NCIt concept]
- symbol withdrawn CMT2B [HGNC gene]
Currated CISMeF NLP mapping
- Autosomal dominant Charcot-Marie-Tooth disease type 2B [ORDO Disease]
- Autosomal dominant Charcot-Marie-Tooth disease type 2B (disorder) [SNOMED CT concept]
- Charcot Marie Tooth disease type 2B [Disease (Nov.)]
- Charcot-Marie-Tooth disease type 2B [DO Concept]
- Charcot-Marie-Tooth disease, Type 2B [MeSH concept]
- Charcot-Marie-Tooth disease, type 2B [MeSH Supplementary Concept]
DO Cross reference
- Charcot-Marie-Tooth disease type 2B [DO Concept]
Genes related to phenotype
- Ras-associated protein rab7 [OMIM gene]
HPO term(s)
- Areflexia [HPO term]
- Autoamputation [HPO term]
- Autoamputation of foot [HPO term]
- Autosomal dominant inheritance [HPO term]
- Axonal degeneration/regeneration [HPO term]
- Decreased motor nerve conduction velocity [HPO term]
- Decreased number of 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]
- Dystrophic toenail [HPO term]
- Foot dorsiflexor weakness [HPO term]
- Foot drop [HPO term]
- Foot osteomyelitis [HPO term]
- Hammertoe [HPO term]
- Hyporeflexia [HPO term]
- Normal or mildly decreased motor nerve conduction velocity (NCV) [HPO term]
- Peripheral axonal atrophy [HPO term]
- Peripheral neuropathy [HPO term]
- Pes cavus [HPO term]
- Pes planus [HPO term]
- Sensory neuropathy [HPO term]
- Somatic sensory dysfunction [HPO term]
- Steppage gait [HPO term]
ORDO concept(s)
- Autosomal dominant Charcot-Marie-Tooth disease type 2B [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant Charcot-Marie-Tooth disease type 2B [ORDO Disease]
- Autosomal dominant Charcot-Marie-Tooth disease type 2B (disorder) [SNOMED CT concept]
- Charcot Marie Tooth disease type 2B [Disease (Nov.)]
- Charcot-Marie-Tooth disease type 2B [DO Concept]
- Charcot-Marie-Tooth disease, Type 2B [MeSH concept]
- Charcot-Marie-Tooth disease, type 2B [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients