Oculocutaneous albinism type 5
Synonyms: OCA5
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A form of oculocutaneous albinism characterized by white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity, that affects males and females equally. Patients have been reported only in a consanguineous Pakistani family. The responsible gene has not yet been detected.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Oculocutaneous albinism type 5 | OCA5 |
| fr | Albinisme oculocutané type 5 | ACO5 · OCA5 |
| de | Albinismus, okulokutaner, Typ 5 | = en |
| es | Albinismo oculocutáneo tipo 5 | = en |
| it | Albinismo oculocutaneo, tipo 5 | = en |
| nl | Oculocutaan albinisme type 5 | = en |
| pt | Albinismo oculo-cutâneo tipo 5 | = en |
| pl | Albinizm oczno-skórny typu 5 | = en |
| cs | Okulokutánní albinismus, typ 5 | = en |
| uk | Окулокутанний альбінізм, тип 5 | = en |
| zh | 眼皮肤白化病5型 | = en |
| tr | Okülokütanöz albinizm tip 5 | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615312 | E | validated | |
| ICD-10 | E70.3 | NTBT | attributed | validated |
| ICD-11 | EC23.20 | NTBT | attributed | validated |
| MONDO | 0014127 | E | validated | |
| UMLS | C3888401 | 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 (1):
- ORPHA:55Oculocutaneous albinism
rare inborn errors of metabolism; rare genetic diseases; rare skin diseases; rare ophthalmic disorders
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 1 families | Worldwide | Family(ies) | Validated | 23050561[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.
HPO phenotypes
7 annotations · validated 2017-03-21| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0001098 | Abnormal fundus morphology | |
| HP:0000218 | High palate | |
| HP:0007750 | Hypoplasia of the fovea | |
| HP:0000639 | Nystagmus | |
| HP:0001107 | Ocular albinism | |
| HP:0000613 | Photophobia | |
| HP:0007663 | Reduced visual acuity | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 23050561[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/370091
- This record as JSON: /data/d/370091.json