ORPHA:894
Waardenburg syndrome type 1
Synonyms: WS1 · Waardenburg syndrome type I
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Neonatal
- Status
- active
A subtype of Waardenburg syndrome (WS) characterized by congenital deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Waardenburg syndrome type 1 | WS1 · Waardenburg syndrome type I |
| fr | Syndrome de Waardenburg type 1 | Syndrome de Waardenburg type I · WS1 |
| de | Waardenburg-Syndrom Typ 1 | WS1 · Waardenburg-Syndrom Typ I |
| es | Síndrome de Waardenburg tipo 1 | Síndrome de Waardenburg tipo I · WS1 |
| it | Sindrome di Waardenburg, tipo 1 | WS1 |
| nl | Syndroom van Waardenburg type 1 | Syndroom van Waardenburg type I · WS1 |
| pt | Síndrome Waardenburg tipo 1 | |
| pl | Zespół Waardenburga typu 1 | WS1 · WS1 · Zespół Waardenburga typu I |
| cs | Waardenburgův syndrom, typ I | WS1 |
| uk | Синдром Ваарденбурга, тип 1 | Синдром Ваарденбурга, тип I · WS1 |
| zh | Waardenburg综合征1型 | Waardenburg综合征1型 |
| tr | Waardenburg sendromu tip 1 | WS1 · Waardenburg sendromu tip I |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 193500 | E | validated | |
| ICD-10 | E70.3 | NTBT | attributed | validated |
| ICD-11 | EC23.2Y | NTBT | index | validated |
| MONDO | 0008670 | E | validated | |
| UMLS | C1847800 | E | validated | |
| GARD | 5519 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:98575Syndromic telecanthus
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders - ORPHA:3440Waardenburg syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases; rare otorhinolaryngological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PAX3 | Disease-causing germline mutation(s) in | Assessed | HGNC:8617 | ENSG00000135903 | 606597 | 2q36.1 | paired box 3 | 20301703[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only | Not yet validated | ORPHANET |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET_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.
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HPO phenotypes
32 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000478 | Abnormality of the eye | |
| HP:0000504 | Abnormality of vision | |
| HP:0008527 | Congenital sensorineural hearing impairment | |
| HP:0000365 | Hearing impairment | |
| HP:0001100 | Heterochromia iridis | |
| HP:0005599 | Hypopigmentation of hair | |
| HP:0001053 | Hypopigmented skin patches | |
| HP:0000632 | Lacrimation abnormality | |
| HP:0000303 | Mandibular prognathia | |
| HP:0003196 | Short nose | |
| HP:0000506 | Telecanthus | |
| HP:0000574 | Thick eyebrow | |
| HP:0002226 | White eyebrow | |
| HP:0002227 | White eyelashes | |
| HP:0002211 | White forelock | |
| HP:0011364 | White hair | |
| Frequent (79-30%) | ||
| HP:0001595 | Abnormality of the hair | |
| HP:0002216 | Premature graying of hair | |
| HP:0000664 | Synophrys | |
| HP:0010804 | Tented upper lip vermilion | |
| HP:0000430 | Underdeveloped nasal alae | |
| HP:0000431 | Wide nasal bridge | |
| Occasional (29-5%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0002251 | Aganglionic megacolon | |
| HP:0000175 | Cleft palate | |
| HP:0000204 | Cleft upper lip | |
| HP:0002435 | Meningocele | |
| HP:0000508 | Ptosis | |
| HP:0002650 | Scoliosis | |
| HP:0002414 | Spina bifida | |
| HP:0000912 | Sprengel anomaly | |
| HP:0000486 | Strabismus | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/894
- This record as JSON: /data/d/894.json