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Term:PCWH syndrome
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Accession:DOID:0090111 term browser browse the term
Definition:An autosomal dominant disease 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. (DO)
Synonyms:exact_synonym: Neurologic Waardenburg-Shah syndrome;   PCWH;   Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease;   Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Hirschsprung disease-Waardenburg syndrome;   Waardenburg-Shah Syndrome, Neurologic Variant
 primary_id: MESH:C563789;   RDO:0012958
 alt_id: OMIM:609136
 xref: ORDO:163746
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PCWH syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mpz myelin protein zero JBrowse link 13 89,524,204 89,530,070 RGD:13592920
G Polr2f RNA polymerase II subunit F JBrowse link 7 120,380,543 120,392,214 RGD:8554872
G Sox10 SRY-box transcription factor 10 JBrowse link 7 120,393,238 120,403,523 RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    syndrome 5154
      Waardenburg's syndrome 12
        PCWH syndrome 3
Path 2
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  disease 15619
    disease of anatomical entity 14948
      gastrointestinal system disease 4373
        Gastrointestinal Diseases 2465
          intestinal disease 1386
            colonic disease 941
              megacolon 153
                Hirschsprung's disease 152
                  PCWH syndrome 3
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.