Statements (47)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
both sexes equally
melanocyte development |
| gptkbp:alsoKnownAs |
gptkb:Waardenburg-Shah_syndrome
|
| gptkbp:category |
genetic disorder
pigmentation disorder syndromic hearing loss |
| gptkbp:cause |
mutation in EDN3 gene
mutation in EDNRB gene mutation in MITF gene mutation in PAX3 gene mutation in SOX10 gene |
| gptkbp:complication |
gptkb:Hirschsprung's_disease
|
| gptkbp:diagnosedBy |
clinical evaluation
genetic testing |
| gptkbp:field |
medical genetics
|
| gptkbp:firstDescribed |
1951
|
| gptkbp:frequency |
rare
|
| https://www.w3.org/2000/01/rdf-schema#label |
Waardenburg syndrome
|
| gptkbp:ICD-10_code |
Q87.2
|
| gptkbp:inheritance |
autosomal dominant
autosomal recessive |
| gptkbp:namedAfter |
gptkb:Petrus_Johannes_Waardenburg
|
| gptkbp:OMIM |
193500
|
| gptkbp:onset |
congenital
|
| gptkbp:prevalence |
1 in 40,000
|
| gptkbp:riskFactor |
family history
|
| gptkbp:symptom |
sensorineural hearing loss
cleft lip heterochromia iridum limb abnormalities intestinal aganglionosis dystopia canthorum pale blue eyes premature graying of hair white forelock wide nasal root |
| gptkbp:treatment |
supportive care
hearing aids cochlear implants |
| gptkbp:type |
Type 1
Type 2 Type 3 Type 4 |
| gptkbp:bfsParent |
gptkb:chromosome_10
gptkb:Hirschsprung's_disease |
| gptkbp:bfsLayer |
6
|