ORPHA:3214
Deaf blind hypopigmentation syndrome, Yemenite type
Synonyms: Warburg-Thomsen syndrome · Yemenite deaf-blind hypopigmentation syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Yemenite deaf-blind hypopigmentation syndrome is an exceedingly rare genetic disorder characterized by cutaneous pigmentation anomalies, ocular disorders and hearing loss.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Deaf blind hypopigmentation syndrome, Yemenite type | Warburg-Thomsen syndrome · Yemenite deaf-blind hypopigmentation syndrome |
| fr | Surdité-cécité-hypopigmentation | Syndrome de Warburg-Thomsen |
| de | Hörverlust-Blindheit-Hypopigmentierung-Syndrom, jemenitischer Typ | Warburg-Thomsen-Syndrom |
| es | Síndrome de hipopigmentación con sordera y ceguera, tipo yemení | |
| it | Sindrome da sordità, cecità e ipopigmentazione tipo yemenita | Sindrome di Warburg-Thomsen |
| nl | Doofheid - blindheid - hypopigmentatie-syndroom, Jemenitisch type | Syndroom van Warburg-Thomsen |
| pt | Síndrome de surdez-cegueira-hipopigmentação, tipo Yemenite | Síndrome Warburg-Thomsen · Síndrome de surdez-cegueira-hipopigmentação de Yemenite |
| pl | Zespół głuchoty, ślepoty i hipopigmentacji Jemenitów | Zespół Warburga i Thomsena |
| cs | Syndrom hluchoslepoty s hypopigmentací, jemenský typ | Jemenský syndrom hluchoslepoty s hypopigmentací · Warburgův-Thomsenův syndrom · Warburg-Thomsenův syndrom |
| uk | Синдром глухоти-сліпоти з гіпопігментацією, єменський тип | Синдром Варбурга-Томсена · Синдром глухонімої гіпопігментації у єменців |
| zh | 耳聋目盲色素沉着不足综合征Yemenite亚型 | 也门聋盲性色素减退综合征 |
| tr | Sağır kör hipopigmentasyon sendromu, Yemenit tipi | Warburg-Thomsen sendromu · Yemenli sağır-kör hipopigmentasyon sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601706 | E | validated | |
| ICD-10 | Q13.8 | NTBT | attributed | validated |
| ICD-11 | LD2H.Y | NTBT | index | validated |
| MONDO | 0011133 | E | validated | |
| MeSH | C536771 | E | validated | |
| UMLS | C1866425 | E | validated | |
| GARD | 5535 | 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 (5):
- ORPHA:183469Genetic hypopigmentation of the skin
rare genetic diseases - ORPHA:79376Hypopigmentation of the skin
rare skin diseases - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases - ORPHA:98683Syndromic disorder with strabismus
rare ophthalmic disorders - ORPHA:522520Syndromic genetic disorder with strabismus
rare genetic diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 2280978[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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.
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HPO phenotypes
22 annotations · validated 2017-10-11| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000684 | Delayed eruption of teeth | |
| HP:0001480 | Freckling | |
| HP:0000953 | Hyperpigmentation of the skin | |
| HP:0005599 | Hypopigmentation of hair | |
| HP:0001053 | Hypopigmented skin patches | |
| HP:0001572 | Macrodontia | |
| HP:0007565 | Multiple cafe-au-lait spots | |
| HP:0000639 | Nystagmus | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0000486 | Strabismus | |
| Frequent (79-30%) | ||
| HP:0011483 | Anterior synechiae of the anterior chamber | |
| HP:0001288 | Gait disturbance | |
| HP:0000348 | High forehead | |
| HP:0000612 | Iris coloboma | |
| HP:0007730 | Iris hypopigmentation | |
| HP:0000482 | Microcornea | |
| HP:0000322 | Short philtrum | |
| Occasional (29-5%) | ||
| HP:0200007 | Abnormal size of the palpebral fissures | |
| HP:0008499 | High hypermetropia | |
| HP:0002705 | High, narrow palate | |
| HP:0001276 | Hypertonia | |
| HP:0000679 | Taurodontia | |
Run the differential on the 10 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3214
- This record as JSON: /data/d/3214.json