Charcot-marie-tooth disease, dominant intermediate b

Preferred Label : Charcot-marie-tooth disease, dominant intermediate b;

Symbol : CMTDIB;

CISMeF acronym : CMTDIB; CMTDI1; CMT2M; DI-CMTB;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Charcot-marie-tooth neuropathy, dominant intermediate b; DI-CMTB; CMTDI1;

Included titles and symbols : Charcot-marie-tooth disease, dominant intermediate b, with neutropenia; Charcot-marie-tooth disease, axonal, autosomal dominant, type 2m; Charcot-marie-tooth neuropathy, axonal, type 2m; Charcot-marie-tooth disease, axonal, type 2m; Charcot-marie-tooth neuropathy, dominant intermediate b, with neutropenia; CMT2M;

Description : Charcot-Marie-Tooth disease is a clinically and genetically heterogeneous disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. - Classification CMT neuropathy is subdivided into CMT1 (see 118200) and CMT2 (see 118210) types on the basis of electrophysiologic and neuropathologic criteria. CMT1, or hereditary motor and sensory neuropathy type I (HMSN I), is a demyelinating neuropathy, whereas CMT2, or HMSN II, is an axonal neuropathy. Most patients with CMT are classified as having CMT1 or CMT2 by use of a cut-off value of 38 m/s for the motor median nerve conduction velocity (NCV). However, in some families with CMT, patients have motor median NCVs ranging from 25 to 45 m/s. Families of this type were reported by Salisachs (1974) and Davis et al. (1978). Davis et al. (1978) proposed that this form be designated 'intermediate' CMT. Claeys et al. (2009) stated that some CMT families may have an even broader range of NCV than 25 to 45 m/s, with the lowest levels around 25 and the highest levels within the normal range (50 m/s). They also suggested that the term 'intermediate' should not be used to describe a single NCV value, but rather the CMT subtype at the level of the family (e.g., in families with a range or combinations of NCV values). - Genetic Heterogeneity of Autosomal Dominant Intermediate CMT In addition to CMTDIB, which is caused by mutation in the DNM2 gene, other forms of dominant intermediate CMT include CMTDIC (608323), caused by mutation in the YARS gene (603623) on chromosome 1p35-p34l; CMTDID (607791), caused by mutation in the MPZ gene (159440) on chromosome 1q22; CMTDIE with focal segmental glomerulosclerosis (CMTDIE; 614455), caused by mutation in the INF2 gene (610982) on chromosome 14q; and;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the dynamin-2 gene (DNM2, 602378.0001);

Prefixed ID : #606482;

Details

Origin ID

606482;

UMLS CUI

C1847902;

Automatic exact mappings (from CISMeF team)
- Charcot-Marie-Tooth neuropathy, dominant intermediate B, with neutropenia [MeSH concept]
- Charcot-Marie-Tooth neuropathy, dominant intermediate B, with neutropenia [MeSH Supplementary Concept]
- DNM2 wt Allele [NCIt concept]
- dynamin 2 [ORDO Gene]
- dynamin 2 [HGNC gene]
Currated CISMeF NLP mapping
- Autosomal dominant Charcot-Marie-Tooth disease type 2M [ICD-11 More detail]
- Autosomal dominant Charcot-Marie-Tooth disease type 2M [ORDO Disease]
- Autosomal dominant Charcot-Marie-Tooth disease type 2M (disorder) [SNOMED CT concept]
- Autosomal dominant intermediate Charcot-Marie-Tooth disease type B [ORDO Disease]
- Autosomal dominant intermediate Charcot-Marie-Tooth disease type B (disorder) [SNOMED CT concept]
- Charcot-Marie-Tooth disease dominant intermediate B [DO Concept]
- Charcot-Marie-Tooth disease, dominant intermediate B [MeSH concept]
- Charcot-Marie-Tooth disease, dominant intermediate B [MeSH Supplementary Concept]
- Dominant intermediate Charcot-Marie-Tooth disease type B [ICD-11 More detail]
DO Cross reference
- Charcot-Marie-Tooth disease dominant intermediate B [DO Concept]
Genes related to phenotype
- Dynamin 2 [OMIM gene]
HPO term(s)
- Areflexia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Axonal degeneration [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]
- Distal sensory impairment [HPO term]
- Heterogeneous [HPO term]
- Hyporeflexia [HPO term]
- Juvenile onset [HPO term]
- Onion bulb formation [HPO term]
- Peripheral axonal degeneration [HPO term]
- Pes cavus [HPO term]
- Segmental peripheral demyelination [HPO term]
- Segmental peripheral demyelination/remyelination [HPO term]
ORDO concept(s)
- Autosomal dominant Charcot-Marie-Tooth disease type 2M [ORDO Disease]
- Autosomal dominant intermediate Charcot-Marie-Tooth disease type B [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant Charcot-Marie-Tooth disease type 2M [ORDO Disease]
- Autosomal dominant intermediate Charcot-Marie-Tooth disease type B [ORDO Disease]
- Autosomal dominant intermediate Charcot-Marie-Tooth disease type B (disorder) [SNOMED CT concept]
- Charcot-Marie-Tooth disease dominant intermediate B [DO Concept]
- Charcot-Marie-Tooth disease, dominant intermediate B [MeSH Supplementary Concept]
- Charcot-Marie-Tooth disease, dominant intermediate B [MeSH concept]

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