Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease (PCWH)

Alias:

Pcwh Syndrome

Pcwh

Neurologic Waardenburg-Shah Syndrome

Peripheral Demyelinating Neuropathy, Central Dysmyelinating Leukodystrophy, Waardenburg Syndrome and Hirschsprung Disease

Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Hirschsprung Disease-Waardenburg Syndrome

Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease

Waardenburg-Shah Syndrome, Neurologic Variant

Waardenburg-Shah Syndrome Neurologic Variant

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease, also known as pcwh syndrome, is related to waardenburg syndrome, type 2b and waardenburg syndrome, type 3, and has symptoms including ataxia and paraparesis, spastic. An important gene associated with Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease is SOX10 (SRY-Box Transcription Factor 10), and among its related pathways/superpathways are Primary ovarian insufficiency and Prostaglandin synthesis and regulation. Affiliated tissues include skin and olfactory bulb, and related phenotypes are intellectual disability and seizure

Related ID：

MALACARDS：PRP066

OMIM：609136

MESH：D006627