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

Charcot-Marie-Tooth disease type 1C

Synonyms
CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1C; CMT 1C; CMT, SLOW NERVE CONDUCTION TYPE C; Charcot-Marie-Tooth disease, demyelinating, Type 1C; Charcot-Marie-Tooth disease, type IC; HMSN IC; NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE IC
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

39 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (39 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: PIG7, SIMPLE, TP53I7, LITAF
    Summary: lipopolysaccharide induced TNF factor

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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