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GTR Home > Conditions/Phenotypes > Charcot-Marie-Tooth disease, type IA

Charcot-Marie-Tooth disease, type IA

Synonyms
CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL DOMINANT, WITH FOCALLY FOLDED MYELIN SHEATHS, TYPE 1A; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1A; CMT 1A; Charcot-Marie-Tooth disease type 1A; Charcot-Marie-Tooth disease, demyelinating, type 1A; HEREDITARY MOTOR AND SENSORY NEUROPATHY IA; HMSN 1A; Hereditary motor and sensory neuropathy 1A
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

For a general phenotypic description and a discussion of genetic heterogeneity of Charcot-Marie-Tooth disease type 1, see CMT1B (118200). CMT1A is the most common form of CMT. The average age of onset of clinical symptoms is 12.2 +/- 7.3 years. Slow nerve conduction velocity (NCV) less than 38 m/s is highly diagnostic and is a 100% penetrant phenotype independent of age (Lupski et al., 1991, 1992). [from OMIM]

Available tests

87 tests are in the database for this condition.

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Clinical tests (87 available)

Cytogenetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CIDP, CMT1A, CMT1E, DSS, GAS-3, GAS3, HMSNIA, HNPP, Sp110, PMP22
    Summary: peripheral myelin protein 22

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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Reviews

Clinical resources

Practice guidelines

  • EuroGenetest, 2010
    Clinical utility gene card for: HMSN/HNPP HMSN types 1, 2, 3, 6 (CMT1,2,4, DSN, CHN, GAN, CCFDN, HNA); HNPP

Molecular resources

Consumer resources

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