Charcot-marie-tooth disease, axonal, type 2a1

Preferred Label : Charcot-marie-tooth disease, axonal, type 2a1;

Symbol : CMT2A1;

CISMeF acronym : CMT2A1; HMSN2A1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Charcot-marie-tooth disease, axonal, autosomal dominant, type 2a1; Hmsn iia1; Charcot-marie-tooth neuropathy, type 2a1; Charcot-marie-tooth disease, neuronal, type 2a1; Hereditary motor and sensory neuropathy iia1; HMSN2A1;

Description : Charcot-Marie-Tooth 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 slow motor median nerve conduction velocity (NCV) (less than 38 m/s), and type 2, the axonal form, with a normal or slightly reduced NCV. Distal hereditary motor neuropathy (dHMN), also known as spinal CMT, is a third type of CMT characterized by normal motor and sensory NCV and degeneration of spinal cord anterior horn cells. See CMT1B (118200) and CMT1A (118220) for descriptions of autosomal dominant slow nerve conduction types of Charcot-Marie-Tooth disease. See CMT4A (214400) and CMTX1 (302800) for autosomal recessive and X-linked forms of Charcot-Marie-Tooth disease, respectively. Several forms of axonal CMT neuropathies caused by mutations in different genes or at different loci have been described, including CMT2B (600882), CMT2B1 (605588), CMT2B2 (605589), CMT2C (606071), CMT2D (601472), CMT2E (607684), CMT2F (606595), CMT2G (608591), CMT2H (607731), CMT2I (607677), CMT2J (607736), CMT2K (607831), CMT2L (608673), CMT2M (see 606482), CMT2N (613287), CMT2O (614228), CMT2P (614436), CMT2Q (615025), and CMT2R (615490).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the kinesin family member 1B gene (KIF1B, 605995.0001);

Prefixed ID : #118210;

Details

Origin ID

118210;

UMLS CUI

C1861678;

Automatic exact mappings (from CISMeF team)
- KIF1B wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Autosomal dominant Charcot-Marie-Tooth disease type 2A1 [ORDO Disease]
- Autosomal dominant Charcot-Marie-Tooth disease type 2A1 (disorder) [SNOMED CT concept]
- Charcot-Marie-Tooth Disease Type 2A1 [NCIt concept]
- Charcot-Marie-Tooth disease type 2A1 [DO Concept]
- Charcot-Marie-Tooth disease type 2A1 [ICD-11 More detail]
- Charcot-Marie-Tooth disease, axonal, type 2a1 [MeSH concept]
- Charcot-Marie-Tooth disease, axonal, type 2a1 [MeSH Supplementary Concept]
DO Cross reference
- Charcot-Marie-Tooth disease type 2A1 [DO Concept]
Genes related to phenotype
- Kinesin family member 1b [OMIM gene]
HPO term(s)
- Adolescent onset [HPO term]
- Areflexia [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]
- Distal sensory impairment [HPO term]
- Foot dorsiflexor weakness [HPO term]
- Foot drop [HPO term]
- Hammertoe [HPO term]
- Hyporeflexia [HPO term]
- Limb muscle weakness [HPO term]
- Normal or mildly decreased motor nerve conduction velocity (NCV) [HPO term]
- Onion bulb formation [HPO term]
- Onset [HPO term]
- Peripheral axonal atrophy [HPO term]
- Peripheral neuropathy [HPO term]
- Pes cavus [HPO term]
- Slowly progressive [HPO term]
- Steppage gait [HPO term]
ORDO concept(s)
- Autosomal dominant Charcot-Marie-Tooth disease type 2A1 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant Charcot-Marie-Tooth disease type 2A1 [ORDO Disease]
- Autosomal dominant Charcot-Marie-Tooth disease type 2A1 (disorder) [SNOMED CT concept]
- Charcot-Marie-Tooth Disease Type 2A1 [NCIt concept]
- Charcot-Marie-Tooth disease, axonal, type 2a1 [MeSH Supplementary Concept]
- Charcot-Marie-Tooth disease, axonal, type 2a1 [MeSH concept]

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