ORPHA:370097
Oculocutaneous albinism type 6
Synonyms: OCA6
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A form of oculocutaneous albinism characterized by light hair at birth that darkens with age, white skin, transparent irides, photophobia, nystagmus, foveal hypoplasia and reduced visual acuity.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Oculocutaneous albinism type 6 | OCA6 |
| fr | Albinisme oculocutané type 6 | ACO6 · OCA6 |
| de | Albinismus, okulokutaner, Typ 6 | = en |
| es | Albinismo oculocutáneo tipo 6 | = en |
| it | Albinismo oculocutaneo, tipo 6 | = en |
| nl | Oculocutaan albinisme type 6 | = en |
| pt | Albinismo oculocutâneo tipo 6 | = en |
| pl | Albinizm oczno-skórny typu 6 | = en |
| cs | Okulokutánní albinismus, typ 6 | = en |
| uk | Окулокутанний альбінізм, тип 6 | = en |
| zh | 眼皮肤白化病6型 | = en |
| tr | Okülokütanöz albinizm tip 6 | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 113750 | NTBT | validated | |
| ICD-10 | E70.3 | NTBT | attributed | validated |
| ICD-11 | EC23.20 | NTBT | attributed | validated |
| MONDO | 0018264 | E | validated | |
| UMLS | C3805375 | 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 |
|---|---|---|---|---|---|---|---|---|
| SLC24A5 | Disease-causing germline mutation(s) in | Assessed | HGNC:20611 | ENSG00000188467 | 609802 | 15q21.1 | solute carrier family 24 member 5 | 23364476[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 1 cases | Worldwide | Case(s) | Validated | 23364476[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
7 annotations · validated 2017-03-27| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0030613 | Abnormal foveal morphology on macular OCT | |
| HP:0001098 | Abnormal fundus morphology | |
| HP:0008034 | Abnormal iris pigmentation | |
| HP:0008059 | Aplasia/Hypoplasia of the macula | |
| HP:0000639 | Nystagmus | |
| HP:0000613 | Photophobia | |
| HP:0007663 | Reduced visual acuity | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 23364476[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/370097
- This record as JSON: /data/d/370097.json