ORPHA:79433
Oculocutaneous albinism type 3
Synonyms: OCA3 · Red oculocutaneous albinism · Rufous oculocutaneous albinism · Xanthous oculocutaneous albinism
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A form of oculocutaneous albinism (OCA) characterized by rufous or brown albinism and occurring mainly in the African population.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Oculocutaneous albinism type 3 | OCA3 · Red oculocutaneous albinism · Rufous oculocutaneous albinism · Xanthous oculocutaneous albinism |
| fr | Albinisme oculocutané type 3 | AOC3 · Albinisme oculocutané brun · Albinisme oculocutané rouge · Albinisme oculocutané roux |
| de | Albinismus, okulokutaner, Typ 3 | OCA3 · Okulokutaner Albinismus, roter · Okulokutaner Albinismus, xanthöser |
| es | Albinismo oculocutáneo tipo 3 | Albinismo oculocutáneo Xanthous · Albinismo oculocutáneo de Rufous · Albinismo oculocutáneo rojo · OCA3 |
| it | Albinismo oculocutaneo, tipo 3 | Albinismo oculocutaneo di Rufous · Albinismo oculocutaneo di Xanthous · Albinismo oculocutaneo rosso · OCA3 |
| nl | Oculocutaan albinisme type 3 | OCA-3 · OCA3 · Rood oculocutaan albinisme · Rufous oculocutaan albinisme · Xanthous oculocutaan albinisme |
| pt | Albinismo oculocutâneo tipo 3 | Albinismo oculocutâneo Rufous · Albinismo oculocutâneo Xanthous · Albinismo oculocutâneo vermelho · OCA3 |
| pl | Albinizm oczno-skórny typu 3 | Albinizm oczno-skórny Rufousa · Czerwony albinizm oczno-skórny · Ksantynowy albinizm oczno-skórny · OCA3 |
| cs | Červený okulokutánní albinismus | OCA3 · Okulokutánní albinismus, typ 3 |
| uk | Окулокутанний альбінізм, тип 3 | OCA3 · Червоний окулогірний альбінізм · Руфусний окуло-шкірний альбінізм · Ксантозний окуло-шкірний альбінізм |
| zh | 眼皮肤白化病症3型 | 黄斑性眼皮肤白化病 |
| tr | Okülokutanöz albinizm tip 3 | OCA3 · Kırmızı okülokütan albinizm · Kızıl okülokütan albinizm · Ksantöz okülokütanöz albinizm |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 203290 | E | validated | |
| ICD-10 | E70.3 | NTBT | attributed | validated |
| ICD-11 | EC23.20 | NTBT | index | validated |
| MONDO | 0008747 | E | validated | |
| MeSH | C537189 | E | validated | |
| UMLS | C0342683 | E | validated | |
| GARD | 4039 | 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.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TYRP1 | Disease-causing germline mutation(s) in | Assessed | HGNC:12450 | ENSG00000107165 | 115501 | 9p23 | tyrosinase related protein 1 |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | 30347088[PMID]_ORPHANET |
| Point prevalence | 1-5 / 10 000 | 11.7647 / 100 000 | Africa | Value and class | Validated | 30347088[PMID]_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
13 annotations · validated 2021-01-11| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0000635 | Blue irides | |
| HP:0001480 | Freckling | |
| HP:0011358 | Generalized hypopigmentation of hair | |
| HP:0001010 | Hypopigmentation of the skin | |
| HP:0007730 | Iris hypopigmentation | |
| HP:0000639 | Nystagmus | |
| HP:0002297 | Red hair | |
| Occasional (29-5%) | ||
| HP:0200098 | Absent skin pigmentation | |
| HP:0100814 | Blue nevus | |
| HP:0025551 | Optic nerve misrouting | |
| HP:0000486 | Strabismus | |
| HP:0002226 | White eyebrow | |
| HP:0002227 | White eyelashes | |
Annotation source: 21996312[PMID]_21739261[PMID]_9345097[PMID]_20301683[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79433
- This record as JSON: /data/d/79433.json