ORPHA:79435
Oculocutaneous albinism type 4
Synonyms: OCA4
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A form of oculocutaneous albinism characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Oculocutaneous albinism type 4 | OCA4 |
| fr | Albinisme oculocutané type 4 | AOC4 |
| de | Albinismus, okulokutaner, Typ 4 | = en |
| es | Albinismo oculocutáneo tipo 4 | OCA-4 |
| it | Albinismo oculocutaneo, tipo 4 | = en |
| nl | Oculocutaan albinisme type 4 | = en |
| pt | Albinismo oculocutâneo tipo 4 | = en |
| pl | Albinizm oczno-skórny typu 4 | = en |
| cs | Okulokutánní albinismus, typ 4 | = en |
| uk | Окулокутанний альбінізм, тип 4 | = en |
| zh | 眼皮肤白化病症4型 | = en |
| tr | Okülokutanöz albinizm tip 4 | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 606574 | E | validated | |
| ICD-10 | E70.3 | NTBT | attributed | validated |
| ICD-11 | EC23.20 | NTBT | index | validated |
| MONDO | 0011683 | E | validated | |
| MeSH | C564696 | E | validated | |
| UMLS | C1847836 | 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:55Oculocutaneous albinism
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 |
|---|---|---|---|---|---|---|---|---|
| SLC45A2 | Disease-causing germline mutation(s) in | Assessed | HGNC:16472 | ENSG00000164175 | 606202 | 5p13.2 | solute carrier family 45 member 2 |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 1 / 100 000 | Worldwide | Value and class | Validated | 20301683[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
15 annotations · validated 2021-01-15| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007703 | Abnormality of retinal pigmentation | |
| HP:0007750 | Hypoplasia of the fovea | |
| HP:0000639 | Nystagmus | |
| HP:0007663 | Reduced visual acuity | |
| Frequent (79-30%) | ||
| HP:0001022 | Albinism | |
| HP:0005599 | Hypopigmentation of hair | |
| HP:0001010 | Hypopigmentation of the skin | |
| HP:0007730 | Iris hypopigmentation | |
| HP:0001107 | Ocular albinism | |
| HP:0025551 | Optic nerve misrouting | |
| HP:0000613 | Photophobia | |
| HP:0001072 | Thickened skin | |
| HP:0011364 | White hair | |
| Very rare (<4-1%) | ||
| HP:0008069 | Neoplasm of the skin | |
| HP:0003764 | Nevus | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 16965274[PMID]_20301683[PMID]_27734839[PMID]_14961451[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79435
- This record as JSON: /data/d/79435.json