ORPHA:79431
Oculocutaneous albinism type 1A
Synonyms: OCA1A · Tyrosinase-negative oculocutaneous albinism
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A severe form of oculocutaneous albinism type 1 (OCA1) characterized by complete absence of melanin and manifesting as white hair and skin, blue, fully translucent irises, nystagmus and misrouting of the optic nerves.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Oculocutaneous albinism type 1A | OCA1A · Tyrosinase-negative oculocutaneous albinism |
| fr | Albinisme oculocutané type 1A | AOC1A · Albinisme oculocutané tyrosinase-négatif · OCA1A |
| de | Albinismus, okulokutaner, Typ 1A | Albinismus, okulokutaner, Tyrosinase-negativer · OCA1A |
| es | Albinismo oculocutáneo tipo 1A | Albinismo oculocutáneo tirosina-negativo · OCA1A |
| it | Albinismo oculocutaneo, tipo 1A | Albinismo oculocutaneo tirosinasi-negativo · OCA1A |
| nl | Oculocutaan albinisme type 1A | OCA-1A · OCA1A · Tyrosinase-negatief oculocutaan albinisme |
| pt | Albinismo oculocutâneo tipo 1A | Albinismo oculocutâneo tirosinase-negativo · OCA1A |
| pl | Albinizm oczno-skórny typu 1A | Albinizm oczno-skórny tyrozynazo-ujemny · OCA1A |
| cs | Okulokutánní albinismus, typ 1A | OCA1A · Tyrozináza-negativní okulokutánní albinismus |
| uk | Окулокутанний альбінізм, типу 1А | OCA1A · Тирозиназа-негативний окулошкірний альбінізм |
| zh | 眼皮肤白化病1A型 | 酪氨酸酶阴性眼皮肤白化病 |
| tr | Okülokutanöz albinizm tip 1A | OCA1A · Tirozinaz-negatif okülokütanöz albinizm |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 203100 | E | validated | |
| ICD-10 | E70.3 | NTBT | attributed | validated |
| ICD-11 | EC23.20 | NTBT | index | validated |
| MONDO | 0008745 | E | validated | |
| UMLS | C4551504 | 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:352731Oculocutaneous albinism type 1
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 |
|---|---|---|---|---|---|---|---|---|
| TYR | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:12442 | ENSG00000077498 | 606933 | 11q14.3 | tyrosinase | 20301345[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 1.3 / 100 000 | Worldwide | Value and class | Validated | 18463683[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
16 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001022 | Albinism | |
| HP:0005599 | Hypopigmentation of hair | |
| HP:0001010 | Hypopigmentation of the skin | |
| HP:0007750 | Hypoplasia of the fovea | |
| HP:0007730 | Iris hypopigmentation | |
| HP:0000639 | Nystagmus | |
| HP:0001107 | Ocular albinism | |
| HP:0000613 | Photophobia | |
| Frequent (79-30%) | ||
| HP:0000587 | Abnormal optic nerve morphology | |
| HP:0000649 | Abnormality of visual evoked potentials | |
| HP:0001480 | Freckling | |
| HP:0000505 | Visual impairment | |
| Occasional (29-5%) | ||
| HP:0002671 | Basal cell carcinoma | |
| HP:0000962 | Hyperkeratosis | |
| HP:0006739 | Squamous cell carcinoma of the skin | |
| HP:0001072 | Thickened skin | |
Run the differential on the 8 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79431
- This record as JSON: /data/d/79431.json