ORPHA:79434
Oculocutaneous albinism type 1B
Synonyms: OCA1B · Oculocutaneous albinism, Amish type · Platinum oculocutaneous albinism · Yellow oculocutaneous albinism
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A form of oculocutaneous albinism type 1 (OCA1) characterized by skin and hair hypopigmentation, nystagmus, reduced iris and retinal pigment 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 1B | OCA1B · Oculocutaneous albinism, Amish type · Platinum oculocutaneous albinism · Yellow oculocutaneous albinism |
| fr | Albinisme oculocutané type 1B | AOC1B · Albinisme oculocutané jaune · Albinisme oculocutané type Amish · OCA1B |
| de | Albinismus, okulokutaner, Typ 1B | OCA1B · Okulokutaner Albinismus vom Amisch Typ · Okulokutaner Albinismus, gelber · Platin-OCA |
| es | Albinismo oculocutáneo tipo 1B | Albinismo oculocutáneo amarillo · Albinismo oculocutáneo platino · Albinismo oculocutáneo tipo Amisch · OCA1B |
| it | Albinismo oculocutaneo, tipo 1B | Albinismo oculocutaneo giallo · Albinismo oculocutaneo platino · Albinismo oculocutaneo, tipo Amish · OCA1B |
| nl | Oculocutaan albinisme type 1B | Geel oculocutaan albinisme · OCA1B · Oculocutaan albinisme, Amish type · Platina oculocutaan albinisme |
| pt | Albinismo oculocutâneo tipo 1B | Albinismo oculocutâneo amarelo · Albinismo oculocutâneo platina · Albinismo oculocutâneo, tipo Amish · OCA1B |
| pl | Albinizm oczno-skórny typu 1B | Albinizm oczno-skórny typu Amiszów · OCA1B · platynowy albinizm oczno-skórny · Żółty albinizm oczno-skórny |
| cs | Okulokutánní albinismus, typ 1B | OCA1B · Platinový okulokutánní albinismus · Žlutý okulokutánní albinismus · Okulokutánní albinismus, Amishův typ |
| uk | Окулокутанний альбінізм, тип 1B | OCA1B · Окулошкірний альбінізм, тип Амішів · Платиновий окулокутанний альбінізм · Жовтий окулошкірний альбінізм |
| zh | 眼皮肤白化病症1B型 | 眼皮肤白化病，Amish型 |
| tr | Okülokutanöz albinizm tip 1B | OCA1B · Sarı okülokutanöz albinizm · Platin okülokutanöz albinizm · Okülokütanöz albinizm, Amish tipi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 606952 | E | validated | |
| ICD-10 | E70.3 | NTBT | attributed | validated |
| ICD-11 | EC23.20 | NTBT | index | validated |
| MONDO | 0011749 | E | validated | |
| MeSH | C537729 | E | validated | |
| UMLS | C1847024 | E | validated | |
| GARD | 594 | 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 (3):
- ORPHA:352731Oculocutaneous albinism type 1
rare inborn errors of metabolism; rare genetic diseases; rare skin diseases; rare ophthalmic disorders - ORPHA:98683Syndromic disorder with strabismus
rare ophthalmic disorders - ORPHA:522520Syndromic genetic disorder with strabismus
rare genetic diseases
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
17 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007703 | Abnormality of retinal pigmentation | |
| HP:0001022 | Albinism | |
| HP:0001480 | Freckling | |
| HP:0005599 | Hypopigmentation of hair | |
| HP:0001010 | Hypopigmentation of the skin | |
| HP:0007730 | Iris hypopigmentation | |
| HP:0000486 | Strabismus | |
| Frequent (79-30%) | ||
| HP:0000587 | Abnormal optic nerve morphology | |
| HP:0007750 | Hypoplasia of the fovea | |
| HP:0000995 | Melanocytic nevus | |
| HP:0000639 | Nystagmus | |
| HP:0000613 | Photophobia | |
| HP:0000505 | Visual impairment | |
| Occasional (29-5%) | ||
| HP:0002671 | Basal cell carcinoma | |
| HP:0002861 | Melanoma | |
| HP:0006739 | Squamous cell carcinoma of the skin | |
| HP:0001072 | Thickened skin | |
Run the differential on the 7 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79434
- This record as JSON: /data/d/79434.json