PCWH syndrome

Summary

DOID:0090111 - PCWH syndrome

Disease Ontology Definition:A syndrome that is characterized by the association of the features of Waardenburg-Shah syndrome (sensorineural hearing loss, pigmentary abnormalities and Hirschsprung disease; see this term) with neurological features, including: neonatal hypotonia, intellectual deficit (of variable severity), nystagmus, progressive spasticity, ataxia and epilepsy, and has_material_basis_in heterozygous mutation in the SRY-box 10 (SOX10) gene on chromosome 22q13.

Synonyms: PCWH, Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease, Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Hirschsprung disease-Waardenburg syndrome, Neurologic Waardenburg-Shah syndrome

Echinobase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

MIM:

MIM:609136 - peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease; pcwh

MIM:609136 - peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease; pcwh

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view

Parent(s): autosomal dominant disease (is_a), syndrome (is_a)