ORPHA:895
Waardenburg syndrome type 2
Synonyms: WS2 · Waardenburg syndrome type II
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Neonatal
- Status
- active
An autosomal dominant subtype of Waardenburg syndrome (WS) characterized by varying degrees of deafness and pigmentation anomalies of eyes, hair and skin, but without dystopia canthorum.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Waardenburg syndrome type 2 | WS2 · Waardenburg syndrome type II |
| fr | Syndrome de Waardenburg type 2 | Syndrome de Waardenburg type II · WS2 |
| de | Waardenburg-Syndrom Typ 2 | WS2 · Waardenburg-Syndrom Typ II |
| es | Síndrome de Waardenburg tipo 2 | Síndrome de Waardenburg tipo II · WS2 |
| it | Sindrome di Waardenburg, tipo 2 | WS2 |
| nl | Syndroom van Waardenburg type 2 | Syndroom van Waardenburg type II · WS2 |
| pt | Síndrome Waardenburg tipo 2 | |
| pl | Zespół Waardenburga typu 2 | WS2 · Zespół Waardenburga typu II |
| cs | Waardenburgův syndrom, typ 2 | WS2 |
| uk | Синдром Ваарденбурга, тип 2 | Синдром Ваарденбурга, тип II · WS2 |
| zh | Waardenburg综合征2型 | Waardenburg综合征2型 |
| tr | Waardenburg sendromu tip 2 | WS2 · Waardenburg sendromu tip II |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 193510 | BTNT | validated | |
| OMIM | 600193 | BTNT | validated | |
| OMIM | 606662 | BTNT | validated | |
| OMIM | 611584 | BTNT | validated | |
| OMIM | 619947 | BTNT | validated | |
| ICD-10 | E70.3 | NTBT | attributed | validated |
| ICD-11 | EC23.2Y | NTBT | index | validated |
| MONDO | 0019517 | E | validated | |
| MeSH | C536463 | E | validated | |
| UMLS | C2700265 | E | validated | |
| GARD | 5520 | 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 (1):
- ORPHA:3440Waardenburg syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases; rare otorhinolaryngological diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:352740Ocular albinism with congenital sensorineural deafness moved to · inactive
4
Genes
6 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| EDNRB | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:3180 | ENSG00000136160 | 131244 | 13q22.3 | endothelin receptor type B | 28236341[PMID] |
| KITLG | Disease-causing germline mutation(s) in | Assessed | HGNC:6343 | ENSG00000049130 | 184745 | 12q21.32 | KIT ligand | 26522471[PMID] |
| MITF | Disease-causing germline mutation(s) in | Assessed | HGNC:7105 | ENSG00000187098 | 156845 | 3p13 | melanocyte inducing transcription factor | 23098757[PMID] |
| SNAI2 | Disease-causing germline mutation(s) in | Assessed | HGNC:11094 | ENSG00000019549 | 602150 | 8q11.21 | snail family transcriptional repressor 2 | 12444107[PMID] |
| SOX10 | Disease-causing germline mutation(s) in | Assessed | HGNC:11190 | ENSG00000100146 | 602229 | 22q13.1 | SRY-box transcription factor 10 | 21898658[PMID]_17999358[PMID] |
| TYR | Modifying germline mutation in | Assessed | HGNC:12442 | ENSG00000077498 | 606933 | 11q14.3 | tyrosinase | 9158138[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 families | Worldwide | Family(ies) | Validated | 9158138[PMID]_19938076[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 9158138[PMID]_19938076[PMID] |
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
12 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000365 | Hearing impairment | |
| HP:0005599 | Hypopigmentation of hair | |
| HP:0002216 | Premature graying of hair | |
| Frequent (79-30%) | ||
| HP:0001100 | Heterochromia iridis | |
| HP:0001053 | Hypopigmented skin patches | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0002211 | White forelock | |
| Occasional (29-5%) | ||
| HP:0000077 | Abnormality of the kidney | |
| HP:0004414 | Abnormality of the pulmonary artery | |
| HP:0002251 | Aganglionic megacolon | |
| HP:0000508 | Ptosis | |
| HP:0000506 | Telecanthus | |
Run the differential on the 3 obligate / very frequent terms
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/895
- This record as JSON: /data/d/895.json