Minimal pigment oculocutaneous albinism type 1
Synonyms: OCA1-MP · MP OCA type 1
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
An extremely rare form of Oculocutaneous albinism type 1 with minimal pigment present, characterized by blond hair (white at birth), variable iris transillumination (blue irides at birth followed by minimal development of pigment during the first decade of life), visual acuity ranging from 20/80-20/200 and white skin, with or without skin nevi.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Minimal pigment oculocutaneous albinism type 1 | OCA1-MP · MP OCA type 1 |
| fr | Albinisme oculocutané type 1 avec pigmentation minime | OCA1-MP |
| de | Albinismus, okulokutaner , Typ 1, minimal-pigmentierter | OCA Typ MP · OCA1-MP |
| es | Albinismo oculocutáneo tipo 1 con pigmentación mínima | OCA tipo 1 MP · OCA1-MP |
| it | Albinismo oculocutaneo con pigmentazione minima tipo 1 | |
| nl | Oculocutaan albinisme type 1 met minimale pigmentatie | MP OCA type 1 · OCA1-MP |
| pt | Albinismo oculocutâneo com pigmentação mínima tipo 1 | MP OCA tipo 1 · OCA1-MP |
| pl | Albinizm oczno-skórny typu 1 z minimalną ilością barwnika | MP OCA type 1 · OCA1-MP |
| cs | Okulokutánní albinismus typ 1 s minimálním množstvím pigmentu | MP OCA typ 1 · OCA1-MP |
| uk | Мінімальний пігментний окулошкірний альбінізм, тип 1 | MP OCA тип 1 · OCA1-MP |
| zh | 轻度色素性眼皮肤白化病1型 | MP OCA1型 |
| tr | Minimal pigment okülokütanöz albinizm tip 1 | OCA1-MP · MP OCA tip 1 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | E70.3 | NTBT | attributed | validated |
| ICD-11 | EC23.20 | NTBT | specific | validated |
| MONDO | 0018136 | E | validated | |
| UMLS | C5679923 | 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:352731Oculocutaneous albinism type 1
rare inborn errors of metabolism; rare genetic diseases; rare skin diseases; rare ophthalmic disorders
No children.
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] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 10 cases | Worldwide | Case(s) | Validated | [EXPERT] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/352734
- This record as JSON: /data/d/352734.json