Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 (CMTX1)

Alias:

Charcot-Marie-Tooth Disease X-Linked Dominant 1

Cmtx1

Cmtx

Charcot-Marie-Tooth Neuropathy, X-Linked Dominant, 1

X-Linked Charcot-Marie-Tooth Disease

Charcot-Marie-Tooth Peroneal Muscular Atrophy, X-Linked

X-Linked Hereditary Motor and Sensory Neuropathy

X-Linked Charcot-Marie-Tooth Disease Type 1

Cmt1x

Charcot-Marie-Tooth Peroneal Muscular Atrophy X-Linked

Charcot-Marie-Tooth Disease, X-Linked Dominant, Type 1

Charcot-Marie-Tooth Neuropathy X-Linked Dominant 1

Hereditary Motor and Sensory Neuropathy, X-Linked

Hereditary Motor and Sensory Neuropathy X-Linked

Charcot-Marie-Tooth Neuropathy, X-Linked, 1

Charcot-Marie-Tooth Neuropathy X-Linked 1

Charcot-Marie-Tooth Disease, X-Linked, 1

Charcot-Marie-Tooth, X-Linked

Hmsn, X-Linked

Cmt2, Formerly

Hmsn X-Linked

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Charcot-Marie-Tooth Disease, X-Linked Dominant, 1, also known as charcot-marie-tooth disease x-linked dominant 1, is related to charcot-marie-tooth disease, x-linked recessive, 2 and charcot-marie-tooth disease, x-linked recessive, 5, and has symptoms including numbness, tremor and paraparesis. An important gene associated with Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 is GJB1 (Gap Junction Protein Beta 1), and among its related pathways/superpathways are Intracellular trafficking proteins involved in CMT neuropathy and EGR2 and SOX10-mediated initiation of Schwann cell myelination. The drugs Immunoglobulins and Antibodies have been mentioned in the context of this disorder. Affiliated tissues include smooth muscle and spinal cord, and related phenotypes are areflexia and sensory neuropathy

Related ID：

MALACARDS：CHR640

OMIM：302800

MESH：D002607