Ocular albinism with late-onset sensorineural deafness
Synonyms: Ocular albinism with late-onset sensorineural hearing loss
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Adult
- Status
- active
Ocular albinism with late-onset sensorineural deafness is a rare, X-linked inherited subtype of ocular albinism characterized by severe visual impairment, translucent pale-blue irises, a reduction in the retinal pigment and moderately severe deafness with onset ranging from adolescence to fourth or fifth decade of life.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ocular albinism with late-onset sensorineural deafness | Ocular albinism with late-onset sensorineural hearing loss |
| fr | Albinisme oculaire avec surdité sensorielle tardive | |
| de | Okulärer Albinismus mit spät einsetzender sensorineuraler Schwerhörigkeit | |
| es | Albinismo ocular con sordera neurosensorial tardía | Albinismo ocular con hipoacusia neurosensorial tardía |
| it | Albinismo oculare - sordità neurosensoriale ad esordio tardivo | |
| nl | Oculair albinisme met laat optredende sensorineurale doofheid | |
| pt | Albinismo ocular com surdez neurossensorial de início tardio | |
| pl | Albinizm oczny z późnym niedosłuchem czuciowo-nerwowym | = en |
| cs | Okulární albinismus s pozdně nastupující senzorineurální hluchotou | = en |
| uk | Очний альбінізм з пізньою сенсоневральною глухотою | Очний альбінізм з пізньою сенсоневральною приглухуватістю |
| zh | 眼白化病伴发迟发性感觉神经性聋 | 眼白化病伴迟发性感音神经性听力丧失 |
| tr | Geç başlangıçlı sensorinöral sağırlığı olan oküler albinizm | Geç başlangıçlı sensörinöral işitme kaybı ile seyreden oküler albinizm |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300650 | E | validated | |
| ICD-10 | E70.3 | NTBT | attributed | validated |
| ICD-11 | LD2H.Y | NTBT | index | validated |
| MONDO | 0010390 | E | validated | |
| MeSH | C537043 | E | validated | |
| UMLS | C1845069 | E | validated | |
| GARD | 592 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:284804Ocular albinism
rare inborn errors of metabolism; rare genetic diseases; rare ophthalmic disorders - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| AP3D1 | Candidate gene tested in | Not yet assessed | HGNC:568 | ENSG00000065000 | 607246 | 19p13.3 | adaptor related protein complex 3 subunit delta 1 |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 9 cases | Worldwide | Case(s) | Validated | 6542750[PMID]_10330347[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_10330347[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.
HPO phenotypes
6 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000639 | Nystagmus | |
| HP:0001107 | Ocular albinism | |
| HP:0000613 | Photophobia | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0000505 | Visual impairment | |
| Frequent (79-30%) | ||
| HP:0000486 | Strabismus | |
Run the differential on the 5 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1000
- This record as JSON: /data/d/1000.json