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GTR Home > Conditions/Phenotypes > Charcot-Marie-Tooth disease type 2J

Charcot-Marie-Tooth disease type 2J

Synonyms
CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2J; CMT 2J; Charcot-Marie-Tooth disease, Type 2, with hearing loss and pupillary abnormalities; Charcot-Marie-Tooth disease, axonal, Type 2J
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (118210). [from OMIM]

Available tests

48 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (48 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CHM, CHN2, CMT1, CMT1B, CMT2I, CMT2J, CMT4E, CMTDI3, CMTDID, DSS, HMSNIB, MPP, P0, MPZ
    Summary: myelin protein zero

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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