Charcot-marie-tooth disease, axonal, type 2b2

Preferred Label : Charcot-marie-tooth disease, axonal, type 2b2;

Symbol : CMT2B2;

CISMeF acronym : ARCMT2B; CMT2B2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Charcot-marie-tooth disease, axonal, autosomal recessive, type 2b2; Charcot-marie-tooth neuropathy, type 2b2; ARCMT2B; Charcot-marie-tooth disease, neuronal, type 2b2;

Description : Charcot-Marie-Tooth (CMT) disease constitutes a clinically and genetically heterogeneous group of hereditary motor and sensory neuropathies. On the basis of electrophysiologic criteria, CMT is divided into 2 major types: type 1, the demyelinating form, characterized by a motor median nerve conduction velocity less than 38 m/s (see CMT1B; 118200); and type 2, the axonal form, with a normal or slightly reduced nerve conduction velocity. For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT type 2, see CMT2A1 (118210). Autosomal recessive forms of CMT are less frequent than the autosomal dominant or X-linked forms. One form of autosomal recessive axonal CMT (CMT2B1; 605588) is caused by mutation in the LMNA gene (150330) on chromosome 1q21.2-q21.3.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the polynucleotide kinase 3-prime phosphatase gene (PNKP, 605610.0007).;

Prefixed ID : #605589;

Details

Origin ID

605589;

UMLS CUI

C1854150;

Automatic exact mappings (from CISMeF team)
- Charcot-Marie-Tooth disease type 2B2 [ICD-11 More detail]
Currated CISMeF NLP mapping
- Charcot-Marie-Tooth disease type 2B2 [DO Concept]
- Charcot-Marie-Tooth disease type 2B2 [ORDO Disease]
- Charcot-Marie-Tooth disease type 2B2 (disorder) [SNOMED CT concept]
- Charcot-Marie-Tooth disease, Type 2B2 [MeSH concept]
- Charcot-Marie-Tooth disease, type 2B2 [MeSH Supplementary Concept]
DO Cross reference
- Charcot-Marie-Tooth disease type 2B2 [DO Concept]
Genes related to phenotype
- Polynucleotide kinase 3-prime phosphatase [OMIM gene]
HPO term(s)
- Adult onset [HPO term]
- Areflexia [HPO term]
- Autosomal recessive 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]
- Hyporeflexia [HPO term]
- Normal or mildly decreased motor nerve conduction velocity (NCV) [HPO term]
ORDO concept(s)
- Charcot-Marie-Tooth disease type 2B2 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Charcot-Marie-Tooth disease type 2B2 [ORDO Disease]
- Charcot-Marie-Tooth disease type 2B2 [DO Concept]
- Charcot-Marie-Tooth disease type 2B2 (disorder) [SNOMED CT concept]
- Charcot-Marie-Tooth disease, Type 2B2 [MeSH concept]
- Charcot-Marie-Tooth disease, type 2B2 [MeSH Supplementary Concept]

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