Charcot-marie-tooth disease, demyelinating, type 4a

Preferred Label : Charcot-marie-tooth disease, demyelinating, type 4a;

Symbol : CMT4A;

CISMeF acronym : CMT4A;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Charcot-marie-tooth disease, demyelinating, autosomal recessive, type 4a; Charcot-marie-tooth neuropathy, type 4a;

Description : By convention, the designation CMT4 is applied to autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease, which is a peripheral neuropathy characterized by distal motor and sensory impairment resulting in gait difficulties and associated with foot deformities. Motor nerve conduction velocities are decreased, and sural nerve biopsies show loss of myelinated fibers. The age at onset and severity is variable (summary by Patzko and Shy, 2012). - Genetic Heterogeneity of Charcot-Marie-Tooth Disease Type 4 Several different subtypes of autosomal recessive demyelinating CMT (CMT4) have been identified, each with particular ethnic, pathologic, or clinical characteristics: CMT4A; CMT4B, which includes CMT4B1 (601382), caused by mutation in the MTMR2 gene (603557), CMT4B2 (604563), caused by mutation in the SBF2 gene (607697), and CMT4B3 (615284), caused by mutation in the SBF1 gene (603560); CMT4C (601596), caused by mutation in the SH3TC2 gene (608206); CMT4D (601455), caused by mutation in the;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the ganglioside-induced differentiation-associated protein-1 gene (GDAP1, 606589.0001);

Prefixed ID : #214400;

Details

Origin ID

214400;

UMLS CUI

C1859198;

Currated CISMeF NLP mapping
- Charcot-Marie-Tooth disease type 4A [DO Concept]
- Charcot-Marie-Tooth disease type 4A [ICD-11 More detail]
- Charcot-Marie-Tooth disease type 4A [ORDO Disease]
- Charcot-Marie-Tooth disease type 4A (disorder) [SNOMED CT concept]
- Charcot-Marie-Tooth disease, Type 4A [MeSH concept]
- Charcot-Marie-Tooth disease, type 4A [MeSH Supplementary Concept]
DO Cross reference
- Charcot-Marie-Tooth disease type 4A [DO Concept]
Genes related to phenotype
- Ganglioside-induced differentiation-associated protein 1 [OMIM gene]
HPO term(s)
- Areflexia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Axonal degeneration [HPO term]
- Basal lamina onion bulb formation [HPO term]
- CNS hypomyelination [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]
- Hammertoe [HPO term]
- Heterogeneous [HPO term]
- Hypertrophic nerve changes [HPO term]
- Hyporeflexia [HPO term]
- Inability to walk by childhood/adolescence [HPO term]
- Infantile onset [HPO term]
- Kyphoscoliosis [HPO term]
- Motor delay [HPO term]
- Peripheral axonal degeneration [HPO term]
- Peripheral hypomyelination [HPO term]
- Rapidly progressive [HPO term]
- Split hand [HPO term]
- Ulnar claw [HPO term]
ORDO concept(s)
- Charcot-Marie-Tooth disease type 4A [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Charcot-Marie-Tooth disease type 4A [ORDO Disease]
- Charcot-Marie-Tooth disease type 4A [DO Concept]
- Charcot-Marie-Tooth disease type 4A (disorder) [SNOMED CT concept]
- Charcot-Marie-Tooth disease, Type 4A [MeSH concept]
- Charcot-Marie-Tooth disease, type 4A [MeSH Supplementary Concept]

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