U.S. flag

An official website of the United States government

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

Charcot-Marie-Tooth disease axonal type 2K

Synonyms
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2K; CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2K; Charcot-Marie-Tooth disease type 2K
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

A severe early-onset form of axonal Charcot-Marie-Tooth peripheral sensorimotor polyneuropathy. Onset occurs in the neonatal period or early infancy with a clinical picture including hypotonia, scoliosis, a hoarse voice, vocal cord paralysis and respiratory insufficiency. However, nerve conduction velocities and pathological findings from sural nerve biopsies are indicative of a predominantly axonal neuropathy with some demyelinating features. Caused by mutations in the GDAP1 gene (8q13.3), encoding a protein required for mitochondrial fission. [from SNOMEDCT_US]

Available tests

40 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (40 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CMT4, CMT4A, CMTRIA, GDAP1
    Summary: ganglioside induced differentiation associated protein 1

  • Also known as: CMT2K, CMYO25, JP-1, JP1, JPH1
    Summary: junctophilin 1

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.