ORPHA:352745
Oculocutaneous albinism type 7
Synonyms: OCA7
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A form of oculocutaneous albinism (OCA) characterized by skin and hair hypopigmentation (light blond to dark brown), nystagmus, iris transillumination, visual acuity ranging from 6/9 to 3/60 and hypopigmentation of the peripheral ocular fundus. Photophobia is not a major feature.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Oculocutaneous albinism type 7 | OCA7 |
| fr | Albinisme oculocutané type 7 | ACO7 |
| de | Albinismus, okulokutaner, Typ 7 | = en |
| es | Albinismo oculocutáneo tipo 7 | = en |
| it | Albinismo oculocutaneo, tipo 7 | = en |
| nl | Oculocutaan albinisme type 7 | = en |
| pt | Albinismo oculo-cutâneo tipo 7 | |
| pl | Albinizm oczno-skórny typu 7 | = en |
| cs | Okulokutánní albinismus, typ 7 | = en |
| uk | Окулокутанний альбінізм, тип 7 | = en |
| zh | 眼皮肤白化病7型 | = en |
| tr | Okülokütanöz albinizm tip 7 | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615179 | E | validated | |
| ICD-10 | E70.3 | NTBT | attributed | validated |
| ICD-11 | EC23.20 | NTBT | attributed | validated |
| MONDO | 0014070 | E | validated | |
| UMLS | C3808786 | 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:55Oculocutaneous albinism
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 |
|---|---|---|---|---|---|---|---|---|
| LRMDA | Disease-causing germline mutation(s) in | Assessed | HGNC:23405 | ENSG00000148655 | 614537 | 10q22.2-q22.3 | leucine rich melanocyte differentiation associated | 23395477[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 9 cases | Worldwide | Case(s) | Validated | 23395477[PMID] | |
| 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.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/352745
- This record as JSON: /data/d/352745.json