ORPHA:897
Waardenburg-Shah syndrome
Synonyms: Shah-Waardenburg syndrome · WS4 · Waardenburg syndrome type 4 · Waardenburg-Hirschsprung syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
Waardenburg-Shah syndrome (WSS), also known as Waardenburg syndrome type 4 (WS4) is characterized by the association of Waardenburg syndrome (sensorineural hearing loss and pigmentary abnormalities) and Hirschsprung disease (aganglionic megacolon).
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Waardenburg-Shah syndrome | Shah-Waardenburg syndrome · WS4 · Waardenburg syndrome type 4 · Waardenburg-Hirschsprung syndrome |
| fr | Syndrome de Waardenburg-Shah | Syndrome de Shah-Waardenburg · Syndrome de Waardenburg type 4 · Syndrome de Waardenburg-Hirschsprung · WS4 |
| de | Waardenburg-Shah-Syndrom | WS4 · Waardenburg-Hirschsprung-Syndrom · Waardenburg-Syndrom Typ 4 |
| es | Síndrome de Waardenburg-Shah | |
| it | Sindrome di Waardenburg-Shah | Sindrome di Shah-Waardenburg · Sindrome di Waardenburg, tipo 4 · Sindrome di Waardenburg-Hirschsprung · WS4 |
| nl | Syndroom van Waardenburg-Shah | Shah-Waardenburgsyndroom · WS4 · Waardenburg-Hirschsprungsyndroom · Waardenburgsyndroom type 4 |
| pt | Síndrome Waardenburg-Shah | WS4 · Síndrome Shah-Waardenburg · Síndrome Waardenburg tipo 4 |
| pl | Zespół Waardenburga i Shaha | Zespół Shaha i Waardenburga · WS4 · Zespół Waardenburga i Hirschsprunga · Zespół Waardenburga typu 4 |
| cs | Waardenburgův-Shahův syndrom | WS4 · Shahův-Waardenburgův syndrom · Waardenburgův syndrom, typ 4 · Waardenburgův-Hirschsprungův syndrom · Waardenburg-Shahův syndrom · Shah-Waardenburgův syndrom · Waardenburg-Hirschsprungův syndrom |
| uk | Синдром Ваарденбурга-Шаха | Синдром Шаха-Варденбурга · Синдром Ваарденбурга, тип 4 · Синдром Ваарденбурга-Гіршпрунга · WS4 |
| zh | Waardenburg-Shah综合征 | Waardenburg-Hirschsprung综合征 |
| tr | Waardenburg-Shah sendromu | WS4 · Shah-Waardenburg sendromu · Waardenburg sendromu tip 4 · Waardenburg-Hirschsprung sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 277580 | BTNT | validated | |
| OMIM | 613265 | BTNT | validated | |
| OMIM | 613266 | BTNT | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2H.3 | E | specific | validated |
| MONDO | 0019518 | E | validated | |
| MeSH | C536467 | E | validated | |
| UMLS | C1848519 | E | validated | |
| GARD | 5524 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (5):
- ORPHA:183469Genetic hypopigmentation of the skin
rare genetic diseases - ORPHA:79376Hypopigmentation of the skin
rare skin diseases - ORPHA:104009Rare disease involving intestinal motility
rare gastroenterological diseases; rare genetic diseases; rare transplant-related disorders - ORPHA:557866Rare disorder with Hirschsprung disease as a major feature
rare developmental anomalies during embryogenesis; rare genetic diseases; rare abdominal surgical diseases; rare transplant-related disorders - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:918ABCD syndrome moved to · inactive
4
Genes
4 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| EDN3 | Disease-causing germline mutation(s) in | Assessed | HGNC:3178 | ENSG00000124205 | 131242 | 20q13.32 | endothelin 3 | 19764030[PMID] |
| EDNRB | Disease-causing germline mutation(s) in | Assessed | HGNC:3180 | ENSG00000136160 | 131244 | 13q22.3 | endothelin receptor type B | |
| MITF | Disease-causing germline mutation(s) in | Assessed | HGNC:7105 | ENSG00000187098 | 156845 | 3p13 | melanocyte inducing transcription factor | 30612693[PMID] |
| SOX10 | Disease-causing germline mutation(s) in | Assessed | HGNC:11190 | ENSG00000100146 | 602229 | 22q13.1 | SRY-box transcription factor 10 | 22378281[PMID]_24311220[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
| Cases/families | 100 cases | Worldwide | Case(s) | Validated | Dr Véronique PINGAULT[EXPERT] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
23 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000534 | Abnormal eyebrow morphology | |
| HP:0002242 | Abnormal intestine morphology | |
| HP:0001103 | Abnormal macular morphology | |
| HP:0000478 | Abnormality of the eye | |
| HP:0000504 | Abnormality of vision | |
| HP:0002251 | Aganglionic megacolon | |
| HP:0002019 | Constipation | |
| HP:0000365 | Hearing impairment | |
| HP:0005599 | Hypopigmentation of hair | |
| HP:0005214 | Intestinal obstruction | |
| HP:0002216 | Premature graying of hair | |
| HP:0002226 | White eyebrow | |
| HP:0002227 | White eyelashes | |
| HP:0002211 | White forelock | |
| Frequent (79-30%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0000366 | Abnormality of the nose | |
| HP:0001341 | Olfactory lobe agenesis | |
| HP:0000426 | Prominent nasal bridge | |
| HP:0000664 | Synophrys | |
| HP:0000430 | Underdeveloped nasal alae | |
| HP:0000431 | Wide nasal bridge | |
| Occasional (29-5%) | ||
| HP:0007703 | Abnormality of retinal pigmentation | |
| HP:0000506 | Telecanthus | |
Run the differential on the 12 obligate / very frequent terms
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/897
- This record as JSON: /data/d/897.json