ORPHA:597733
Oculocutaneous albinism type 8
Synonyms: OCA8
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
A type of oculocutaneous albinism characterized by mild hypopigmentation of the skin, hair, and eyes with moderate reduction of visual acuity and nystagmus. The ocular phenotype includes moderate foveal hypoplasia, iris transillumination, and hypopigmentation of the retina.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Oculocutaneous albinism type 8 | OCA8 |
| fr | Albinisme oculocutané type 8 | AOC8 |
| de | Albinismus, okulokutaner, Typ 8 | = en |
| es | Albinismo oculocutáneo tipo 8 | AOC8 |
| it | Albinismo oculocutaneo tipo 8 | = en |
| nl | Oculocutaan albinisme type 8 | = en |
| pt | Albinismo oculocutâneo tipo 8 | = en |
| pl | Albinizm oczno-skórny typ 8 | Postać oczno-skórna albinizmu |
| cs | Okulokutánní albinismus typu 8 | = en |
| uk | Окулошкірний альбінізм, тип 8 | = en |
| zh | Oculocutaneous albinism type 8 | = en |
| tr | Oculocutaneous albinism type 8 | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 619165 | E | validated | |
| ICD-10 | E70.3 | NTBT | attributed | validated |
| ICD-11 | EC23.20 | NTBT | attributed | validated |
| MONDO | 0030899 | E | validated | |
| UMLS | C5436929 | 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 (1):
- ORPHA:55Oculocutaneous albinism
rare inborn errors of metabolism; rare genetic diseases; rare skin diseases; rare ophthalmic disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DCT | Disease-causing germline mutation(s) in | Assessed | HGNC:2709 | ENSG00000080166 | 191275 | 13q32.1 | dopachrome tautomerase | 33100333[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 33100333[PMID] |
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 33100333[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.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/597733
- This record as JSON: /data/d/597733.json