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GTR Home > Conditions/Phenotypes > Charcot-Marie-Tooth disease X-linked recessive 5

Charcot-Marie-Tooth disease X-linked recessive 5

Synonyms
Charcot-Marie-Tooth Neuropathy X Type 5; Familial opticoacoustic nerve degeneration and polyneuropathy; Optic atrophy polyneuropathy deafness; Optic atrophy, neural deafness, and distal neurogenic amyotrophy; Optic atrophy, polyneuropathy, and deafness; Optic atrophy, sensorineural hearing loss and polyneuropathy; PRPS1-Related Charcot-Marie-Tooth Neuropathy X Type 5; Rosenberg Chutorian syndrome
Modes of inheritance
X-linked recessive inheritance (Orphanet)

Summary

X-linked Charcot-Marie-Tooth neuropathy type 5 (CMTX5), part of the spectrum of PRPS1-related disorders, is characterized by peripheral neuropathy, early-onset (prelingual) bilateral profound sensorineural hearing loss, and optic neuropathy. The onset of peripheral neuropathy is between ages five and 12 years. The lower extremities are affected earlier and more severely than upper extremities. Initial manifestations often include foot drop or gait disturbance. Onset of visual impairment is between ages seven and 20 years. Intellect and life span are normal. Carrier females do not have findings of CMTX5. [from GeneReviews]

Available tests

62 tests are in the database for this condition.

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Clinical tests (62 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ARTS, CMTX5, DFN2, DFNX1, PPRibP, PRS-I, PRSI, PRPS1
    Summary: phosphoribosyl pyrophosphate synthetase 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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