Details of Disease | DrugMAP

General Information of Disease (ID: DISLOQND)

Disease Name	PCWH syndrome
Synonyms	Waardenburg-Shah syndrome, neurologic variant; peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease; PCWH; neurologic Waardenburg-Shah syndrome; peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease; WS4 plus; peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Hirschsprung disease-Waardenburg syndrome
Definition	A syndrome characterized by the association of the features of Waardenburg-Shah syndrome (WSS) (sensorineural hearing loss, pigmentary abnormalities and Hirschsprung disease) with neurological features, namely, neonatal hypotonia, intellectual deficit (of variable severity), nystagmus, progressive spasticity, ataxia and epilepsy.
Disease Hierarchy	DIS6SVEE: Syndromic disease DIS3HIWD: Autosomal dominant disease DISLOQND: PCWH syndrome
Disease Identifiers	MONDO ID MONDO_0012198 MESH ID C563789 UMLS CUI C1836727 OMIM ID 609136 MedGen ID 373160 Orphanet ID 163746 SNOMED CT ID 765325002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MPZ	OTAR2YXH	Strong	Biomarker	[1]
SOX10	OTF25ULQ	Definitive	Autosomal dominant	[2]
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References

1	Heterozygous null mutation of myelin P0 protein enhances susceptibility to autoimmune neuritis targeting P0 peptide.Eur J Immunol. 2003 Mar;33(3):656-65. doi: 10.1002/eji.200323677.
2	Congenital hypomyelinating neuropathy, central dysmyelination, and Waardenburg-Hirschsprung disease: phenotypes linked by SOX10 mutation. Ann Neurol. 2002 Dec;52(6):836-42. doi: 10.1002/ana.10404.