Oculocutaneous albinism type 1
Synonyms: OCA1
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A form of oculocutaneous albinism (OCA) characterized by a spectrum of hypopigmentation of skin hair and eyes, ranging from little or no pigmentation to localized pigementation. Nystagmus, photophobia and reduced visual acuity are frequently present. The subtypes include OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Oculocutaneous albinism type 1 | OCA1 |
| fr | Albinisme oculocutané type 1 | AOC1 · OCA1 |
| de | Albinismus, okulokutaner, Typ 1 | |
| es | Albinismo oculocutáneo tipo 1 | = en |
| it | Albinismo oculocutaneo, tipo 1 | = en |
| nl | Oculocutaan albinisme type 1 | = en |
| pt | Albinismo oculocutâneo tipo 1 | = en |
| pl | Albinizm oczno-skórny typu 1 | = en |
| cs | Okulokutánní albinismus, typ 1 | = en |
| uk | Окулокутанний альбінізм, тип 1 | = en |
| zh | 眼皮肤白化病1型 | = en |
| tr | Okülokütanöz albinizm tip 1 | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 203100 | BTNT | validated | |
| OMIM | 606952 | BTNT | validated | |
| ICD-10 | E70.3 | NTBT | attributed | validated |
| ICD-11 | EC23.20 | NTBT | attributed | validated |
| MONDO | 0018135 | E | validated | |
| MeSH | C537728 | E | validated | |
| UMLS | C0268494 | E | validated | |
| GARD | 4037 | 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
Genes
0 direct · 4 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| TYR | ORPHA:79431Oculocutaneous albinism type 1A | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:12442 | ENSG00000077498 | 606933 | 11q14.3 | tyrosinase | 20301345[PMID] |
| TYR | ORPHA:79434Oculocutaneous albinism type 1B | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:12442 | ENSG00000077498 | 606933 | 11q14.3 | tyrosinase | 20301345[PMID] |
| TYR | ORPHA:352734Minimal pigment oculocutaneous albinism type 1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:12442 | ENSG00000077498 | 606933 | 11q14.3 | tyrosinase | 20301345[PMID] |
| TYR | ORPHA:352737Temperature-sensitive oculocutaneous albinism type 1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:12442 | ENSG00000077498 | 606933 | 11q14.3 | tyrosinase | 20301345[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 2.5 / 100 000 | Worldwide | Value and class | Not yet 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
21 annotations · validated 2020-02-19| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0025568 | Abnormal morphology of the choroidal vasculature | |
| HP:0000649 | Abnormality of visual evoked potentials | |
| HP:0000635 | Blue irides | |
| HP:0000992 | Cutaneous photosensitivity | |
| HP:0007680 | Depigmented fundus | |
| HP:0007513 | Generalized hypopigmentation | |
| HP:0011358 | Generalized hypopigmentation of hair | |
| HP:0007750 | Hypoplasia of the fovea | |
| HP:0007730 | Iris hypopigmentation | |
| HP:0012805 | Iris transillumination defect | |
| HP:0000639 | Nystagmus | |
| HP:0025551 | Optic nerve misrouting | |
| HP:0000613 | Photophobia | |
| HP:0007663 | Reduced visual acuity | |
| Frequent (79-30%) | ||
| HP:0000646 | Amblyopia | |
| HP:0000486 | Strabismus | |
| HP:0002226 | White eyebrow | |
| HP:0002227 | White eyelashes | |
| Occasional (29-5%) | ||
| HP:0001072 | Thickened skin | |
| Very rare (<4-1%) | ||
| HP:0025127 | Actinic keratosis | |
| HP:0008069 | Neoplasm of the skin | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 20301345[PMID]_30996339[PMID]_24721949[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/352731
- This record as JSON: /data/d/352731.json