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

Charcot-Marie-Tooth disease type 2B

Synonyms
CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL DOMINANT, TYPE 2B; CMT 2B; Charcot-Marie-Tooth Neuropathy Type 2B; Charcot-Marie-Tooth disease, axonal, type 2b; Charcot-Marie-Tooth disease, neuronal, Type 2B; HEREDITARY MOTOR AND SENSORY NEUROPATHY IIB; Hereditary motor and sensory neuropathy 2 B (HMSN 2 B); Peripheral sensory neuropathy, autosomal dominant (PSN)
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

A severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. Onset in the second or third decade has manifestations of ulceration and infection of the feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss. Tendon reflexes are only reduced at ankles and foot deformities including pes cavus or planus and hammer toes, appear in childhood. [from SNOMEDCT_US]

Available tests

36 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (36 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CMT2B, PRO2706, RAB7, RAB7A
    Summary: RAB7A, member RAS oncogene family

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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