Charcot-marie-tooth disease, axonal, autosomal dominant, type 2a2a

Preferred Label : Charcot-marie-tooth disease, axonal, autosomal dominant, type 2a2a;

Symbol : CMT2A2A;

CISMeF acronym : CMT2A2A; CMT2A2; HMSN2A2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hmsn iia2; Charcot-marie-tooth disease, axonal, type 2a2; CMT2A2; Charcot-marie-tooth disease, neuronal, type 2a2; Charcot-marie-tooth neuropathy, type 2a2; HMSN2A2; Hereditary motor and sensory neuropathy iia2;

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), and CMT2K (607831).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the mitofusin 2 gene (MFN2, 608507.00001);

Prefixed ID : #609260;

Details

Origin ID

609260;

UMLS CUI

C4721887;

Automatic exact mappings (from CISMeF team)
- MFN2 wt Allele [NCIt concept]
- mitofusin 2 [ORDO Gene]
Currated CISMeF NLP mapping
- Autosomal dominant Charcot-Marie-Tooth disease type 2A2 [ORDO Disease]
- Autosomal dominant Charcot-Marie-Tooth disease type 2A2 (disorder) [SNOMED CT concept]
- Charcot-Marie-Tooth Disease Type 2A2A [NCIt concept]
- Charcot-Marie-Tooth disease type 2A2A [DO Concept]
- Charcot-Marie-Tooth disease, axonal, type 2A2 [MeSH concept]
- Charcot-Marie-Tooth disease, axonal, type 2A2 [MeSH Supplementary Concept]
DO Cross reference
- Charcot-Marie-Tooth disease type 2A2A [DO Concept]
Genes related to phenotype
- Mitofusin 2 [OMIM gene]
HPO term(s)
- Adolescent onset [HPO term]
- Areflexia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Axonal degeneration/regeneration [HPO term]
- Babinski sign [HPO term]
- Decreased motor nerve conduction velocity [HPO term]
- Decreased number of peripheral myelinated nerve fibers [HPO term]
- Decreased sensory 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]
- Flexion contracture [HPO term]
- Foot dorsiflexor weakness [HPO term]
- Foot drop [HPO term]
- Hammertoe [HPO term]
- Hearing impairment [HPO term]
- Hyperreflexia [HPO term]
- Hypertonia [HPO term]
- Hyporeflexia [HPO term]
- Incomplete penetrance [HPO term]
- Limb muscle weakness [HPO term]
- Mental deterioration [HPO term]
- Normal or mildly decreased motor nerve conduction velocity (NCV) [HPO term]
- Onion bulb formation [HPO term]
- Optic atrophy [HPO term]
- Pain [HPO term]
- Peripheral axonal atrophy [HPO term]
- Pes cavus [HPO term]
- Scoliosis [HPO term]
- Slowly progressive [HPO term]
- Spasticity [HPO term]
- Steppage gait [HPO term]
- Tremor [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- Autosomal dominant Charcot-Marie-Tooth disease type 2A2 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant Charcot-Marie-Tooth disease type 2A2 [ORDO Disease]
- Autosomal dominant Charcot-Marie-Tooth disease type 2A2 (disorder) [SNOMED CT concept]
- Charcot-Marie-Tooth Disease Type 2A2A [NCIt concept]
- Charcot-Marie-Tooth disease, axonal, type 2A2 [MeSH Supplementary Concept]
- Charcot-Marie-Tooth disease, axonal, type 2A2 [MeSH concept]

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