ORPHA:79432
Oculocutaneous albinism type 2
Synonyms: OCA2
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A form of oculocutaneous albinism characterized by variable hypopigmentation of the skin and hair, numerous characteristic ocular changes and misrouting of the optic nerves at the chiasm.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Oculocutaneous albinism type 2 | OCA2 |
| fr | Albinisme oculocutané type 2 | AOC2 |
| de | Albinismus, okulokutaner, Typ 2 | = en |
| es | Albinismo oculocutáneo tipo 2 | = en |
| it | Albinismo oculocutaneo, tipo 2 | = en |
| nl | Oculocutaan albinisme type 2 | OCA-2 · OCA2 |
| pt | Albinismo oculocutâneo tipo 2 | = en |
| pl | Albinizm oczno-skórny typu 2 | = en |
| cs | Okulokutánní albinismus, typ 2 | = en |
| uk | Окулокутанний альбінізм, тип 2 | = en |
| zh | 眼皮肤白化病2型 | = en |
| tr | Okülokutanöz albinizm tip 2 | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 203200 | E | validated | |
| ICD-10 | E70.3 | NTBT | attributed | validated |
| ICD-11 | EC23.20 | NTBT | index | validated |
| MONDO | 0008746 | E | validated | |
| MeSH | C537730 | E | validated | |
| UMLS | C0268495 | E | validated | |
| GARD | 4038 | 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
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| OCA2 | Disease-causing germline mutation(s) in | Assessed | HGNC:8101 | ENSG00000104044 | 611409 | 15q12-q13.1 | OCA2 melanosomal transmembrane protein | |
| MC1R | Modifying germline mutation in | Assessed | HGNC:6929 | ENSG00000258839 | 155555 | 16q24.3 | melanocortin 1 receptor | 12876664[PMID] |
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Prevalence and incidence
5 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 2.55 / 100 000 | Worldwide | Value and class | Validated | [EXPERT]_20301410[PMID] |
| Point prevalence | 6-9 / 10 000 | 58.34 / 100 000 | Specific population | Value and class | Validated | 12469324[PMID]_ORPHANET_[EXPERT] |
| Point prevalence | 6-9 / 10 000 | 71.43 / 100 000 | Tanzania, United Republic of | Value and class | Validated | 3978567[PMID] |
| Point prevalence | 1-9 / 100 000 | 2.78 / 100 000 | United States | Value and class | Validated | 2667743[PMID] |
| Point prevalence | 1-5 / 10 000 | 48.52 / 100 000 | Africa | Value and class | Validated | ORPHANET_7887411[PMID]_3978567[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
24 annotations · validated 2021-01-11| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0000539 | Abnormality of refraction | |
| HP:0007703 | Abnormality of retinal pigmentation | |
| HP:0000635 | Blue irides | |
| HP:0001480 | Freckling | |
| HP:0001100 | Heterochromia iridis | |
| HP:0005599 | Hypopigmentation of hair | |
| HP:0001010 | Hypopigmentation of the skin | |
| HP:0007750 | Hypoplasia of the fovea | |
| HP:0007730 | Iris hypopigmentation | |
| HP:0012805 | Iris transillumination defect | |
| HP:0007988 | Macular hypopigmentation | |
| HP:0000639 | Nystagmus | |
| HP:0025551 | Optic nerve misrouting | |
| HP:0000613 | Photophobia | |
| HP:0007663 | Reduced visual acuity | |
| HP:0002226 | White eyebrow | |
| HP:0011364 | White hair | |
| Occasional (29-5%) | ||
| HP:0200098 | Absent skin pigmentation | |
| HP:0002671 | Basal cell carcinoma | |
| HP:0012056 | Cutaneous melanoma | |
| HP:0030856 | Posterior staphyloma | |
| HP:0006739 | Squamous cell carcinoma of the skin | |
| HP:0002227 | White eyelashes | |
| Very rare (<4-1%) | ||
| HP:0007481 | Hyperpigmented nevi | |
Annotation source: 29050284[PMID]_26691042[PMID]_31199599[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79432
- This record as JSON: /data/d/79432.json