GTR Home > Conditions/Phenotypes > Charcot-Marie-Tooth disease type 1D

Charcot-Marie-Tooth disease type 1D

Synonyms
CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1D; CMT 1D; Charcot-Marie-Tooth disease, demyelinating, type 1d; HMSN 1D; HMSN ID; Hereditary motor and sensory neuropathy 1D
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

For a phenotypic description and a discussion of genetic heterogeneity of autosomal dominant Charcot-Marie-Tooth disease type 1, see CMT1B (118200). [from OMIM]

Available tests

60 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (60 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AT591, CMT1D, CMT4E, KROX20, EGR2
    Summary: early growth response 2

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

Show allHide all

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.