ORPHA:3440
Waardenburg syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare genetic multiple congenital anomalies characterized by deafness and defects in neural crest-derived structures, including pigmentation anomalies of the eyes, hair, and skin. Four clinical phenotypes are associated with the term ''Waardenburg syndrome'' (WS).
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Waardenburg syndrome | |
| fr | Syndrome de Waardenburg | |
| de | Waardenburg-Syndrom | WS |
| es | Síndrome de Waardenburg | |
| it | Sindrome di Waardenburg | |
| nl | Syndroom van Waardenburg | |
| pt | Síndrome Waardenburg | |
| pl | Zespół Waardenburga | |
| cs | Waardenburgův syndrom | |
| uk | Синдром Ваарденбурга | |
| zh | Waardenburg综合征 | |
| tr | Waardenburg sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 148820 | BTNT | validated | |
| OMIM | 193500 | BTNT | validated | |
| OMIM | 193510 | BTNT | validated | |
| OMIM | 600193 | BTNT | validated | |
| OMIM | 606662 | BTNT | validated | |
| OMIM | 611584 | BTNT | validated | |
| ICD-10 | E70.3 | NTBT | index | validated |
| ICD-11 | EC23.2Y | NTBT | index | validated |
| MONDO | 0018094 | E | validated | |
| MeSH | D014849 | E | validated | |
| UMLS | C3266898 | E | validated | |
| GARD | 5525 | E | validated | |
| MedDRA | 10069203 | 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 (6):
- ORPHA:183469Genetic hypopigmentation of the skin
rare genetic diseases - ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:79376Hypopigmentation of the skin
rare skin diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis - ORPHA:139027Rare developmental defect with skin/mucosae involvement
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases
4
Genes
0 direct · 8 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| EDNRB | ORPHA:895Waardenburg syndrome type 2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:3180 | ENSG00000136160 | 131244 | 13q22.3 | endothelin receptor type B | 28236341[PMID] |
| KITLG | ORPHA:895Waardenburg syndrome type 2 | Disease-causing germline mutation(s) in | Assessed | HGNC:6343 | ENSG00000049130 | 184745 | 12q21.32 | KIT ligand | 26522471[PMID] |
| MITF | ORPHA:895Waardenburg syndrome type 2 | Disease-causing germline mutation(s) in | Assessed | HGNC:7105 | ENSG00000187098 | 156845 | 3p13 | melanocyte inducing transcription factor | 23098757[PMID] |
| PAX3 | ORPHA:894Waardenburg syndrome type 1 | Disease-causing germline mutation(s) in | Assessed | HGNC:8617 | ENSG00000135903 | 606597 | 2q36.1 | paired box 3 | 20301703[PMID] |
| PAX3 | ORPHA:896Waardenburg syndrome type 3 | Disease-causing germline mutation(s) in | Assessed | HGNC:8617 | ENSG00000135903 | 606597 | 2q36.1 | paired box 3 | 8447316[PMID]_7726174[PMID]_12949970[PMID] |
| SNAI2 | ORPHA:895Waardenburg syndrome type 2 | Disease-causing germline mutation(s) in | Assessed | HGNC:11094 | ENSG00000019549 | 602150 | 8q11.21 | snail family transcriptional repressor 2 | 12444107[PMID] |
| SOX10 | ORPHA:895Waardenburg syndrome type 2 | Disease-causing germline mutation(s) in | Assessed | HGNC:11190 | ENSG00000100146 | 602229 | 22q13.1 | SRY-box transcription factor 10 | 21898658[PMID]_17999358[PMID] |
| TYR | ORPHA:895Waardenburg syndrome type 2 | Modifying germline mutation in | Assessed | HGNC:12442 | ENSG00000077498 | 606933 | 11q14.3 | tyrosinase | 9158138[PMID] |
5
Prevalence and incidence
5 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.37 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
| Point prevalence | 1-9 / 100 000 | 1.74 / 100 000 | United States | Value and class | Not yet validated | 9279758[PMID]_ORPHANET |
| Prevalence at birth | 1-9 / 100 000 | 2.4 / 100 000 | Netherlands | Value and class | Validated | 9279758[PMID] |
| Point prevalence | 1-9 / 100 000 | — | Netherlands | Class only | Not yet validated | 9279758[PMID] |
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only | Not yet validated | ORPHANET |
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
32 annotations · validated 2024-06-04| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0001000 | Abnormality of skin pigmentation | |
| HP:0000365 | Hearing impairment | |
| HP:0001100 | Heterochromia iridis | Diagnostic criterion |
| HP:0005599 | Hypopigmentation of hair | Diagnostic criterion |
| HP:0001053 | Hypopigmented skin patches | Diagnostic criterion |
| HP:0002216 | Premature graying of hair | Diagnostic criterion |
| HP:0000426 | Prominent nasal bridge | |
| HP:0000664 | Synophrys | Diagnostic criterion |
| Frequent (79-30%) | ||
| HP:0000534 | Abnormal eyebrow morphology | |
| HP:0000478 | Abnormality of the eye | |
| HP:0008527 | Congenital sensorineural hearing impairment | Diagnostic criterion |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0000506 | Telecanthus | Diagnostic criterion |
| HP:0000430 | Underdeveloped nasal alae | Diagnostic criterion |
| HP:0002211 | White forelock | Diagnostic criterion |
| HP:0000431 | Wide nasal bridge | Diagnostic criterion |
| Occasional (29-5%) | ||
| HP:0011024 | Abnormality of the gastrointestinal tract | |
| HP:0002251 | Aganglionic megacolon | |
| HP:0100811 | Aplasia/Hypoplasia of the colon | |
| HP:0000635 | Blue irides | Diagnostic criterion |
| HP:0012385 | Camptodactyly | |
| HP:0034391 | Elbow contracture | |
| HP:0005214 | Intestinal obstruction | |
| HP:0002475 | Myelomeningocele | |
| HP:0000202 | Orofacial cleft | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0000508 | Ptosis | |
| HP:0002414 | Spina bifida | |
| HP:0002321 | Vertigo | |
| HP:0008568 | Vestibular areflexia | |
| HP:0002227 | White eyelashes | |
Run the differential on the 9 obligate / very frequent terms
Annotation source: 32809714[PMID]_31375308[PMID]_20127975[PMID]_20301703[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3440
- This record as JSON: /data/d/3440.json