Oculocutaneous albinism
Synonyms: OCA
- Type
- Clinical group
- Group
- Group of disorders
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A group of rare genetic hypopigmentation disorders characterized by a generalized reduction in pigmentation of hair, skin and eyes and variable ocular findings including nystagmus, reduced visual acuity and photophobia. Variants include OCA1A (the most severe form), OCA1B, OCA1-minimal pigment (OCA1-MP), OCA1-temperature sensitive (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6, OCA7 and OCA8.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Oculocutaneous albinism | OCA |
| fr | Albinisme oculocutané | AOC |
| de | Albinismus, okulokutaner | = en |
| es | Albinismo oculo-cutáneo | |
| it | Albinismo oculocutaneo | = en |
| nl | Oculocutaan albinisme | = en |
| pt | Albinismo oculocutâneo | AOC |
| pl | Albinizm oczno-skórny | = en |
| cs | Okulokutánní albinismus | = en |
| uk | Окулошкірний альбінізм | = en |
| zh | 眼皮肤白化病 | = en |
| tr | Okülokutanöz albinizm | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | EC23.20 | E | specific | validated |
| MONDO | 0018910 | E | validated | |
| MONDO | 18910 | E | validated | |
| MeSH | D016115 | E | validated | |
| UMLS | C0078918 | E | validated | |
| GARD | 10958 | 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 (4):
- ORPHA:352728Disorder of melanin metabolism
rare inborn errors of metabolism; rare genetic diseases - ORPHA:183469Genetic hypopigmentation of the skin
rare genetic diseases - ORPHA:79376Hypopigmentation of the skin
rare skin diseases - ORPHA:98706Oculocutaneous or ocular albinism
rare genetic diseases; rare ophthalmic disorders
Children (8):
- ORPHA:352731Oculocutaneous albinism type 1
- ORPHA:79432Oculocutaneous albinism type 2
- ORPHA:79433Oculocutaneous albinism type 3
- ORPHA:79435Oculocutaneous albinism type 4
- ORPHA:370091Oculocutaneous albinism type 5
- ORPHA:370097Oculocutaneous albinism type 6
- ORPHA:352745Oculocutaneous albinism type 7
- ORPHA:597733Oculocutaneous albinism type 8
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 5.9 / 100 000 | Worldwide | Value and class | Validated | 17980020[PMID]_[EXPERT] |
| Prevalence at birth | 1-9 / 100 000 | 3.9 / 100 000 | Denmark | Value and class | Validated | 19060277[PMID] |
| Point prevalence | 1-5 / 10 000 | 45 / 100 000 | South Africa | Value and class | Validated | 17620156[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/55
- This record as JSON: /data/d/55.json