ORPHA:54
X-linked recessive ocular albinism
Synonyms: OA1 · Ocular albinism type 1 · Ocular albinism, Nettleship-Falls type · XLOA
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
X-linked recessive ocular albinism (XLOA) is a rare disorder characterized by ocular hypopigmentation, foveal hypoplasia, nystagmus, photodysphoria, and reduced visual acuity in males.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked recessive ocular albinism | OA1 · Ocular albinism type 1 · Ocular albinism, Nettleship-Falls type · XLOA |
| fr | Albinisme oculaire récessif lié à l'X | AO1 · Albinisme oculaire type 1 · Albinisme oculaire type Nettleship-Falls |
| de | Albinismus, okulärer rezessiver X-chromosomaler | Albinismus, okulärer, Nettleship-Falls-Typ · Albinismus, okulärer, Typ 1 · OA-1 · XLOA |
| es | Albinismo ocular recesivo ligado al cromosoma X | Albinismo ocular tipo 1 · Albinismo ocular tipo Nettleship-Falls · OA1 · XLOA |
| it | Albinismo oculare recessivo legato all'X | Albinismo oculare, tipo 1 · Albinismo oculare, tipo Nettleship-Falls · OA1 · XLOA |
| nl | X-gebonden recessief oculair albinisme | OA1 · Oculair albinisme type 1 · Oculair albinisme, Nettleship-Falls-type · XLOA |
| pt | Albinismo ocular ligado ao X recessivo | AO-1 |
| pl | Albinizm oczny o dziedziczeniu recesywnym sprzężony z chromosomem X | Albinizm oczny typu 1 · Albinizm oczny typu Nettleshipa i Fallsa · OA1 · XLOA |
| cs | X-vázaný okulární albinismus | OA1 · Okulární albinismus, typ 1 · XLOA · Okulární albinismus, Nettleshipův-Fallsův typ · Okulární albinismus, Nettleship-Fallsův typ |
| uk | Х-зчеплений рецесивний очний альбінізм | OA1 · Очний альбінізм типу 1 · Очний альбінізм, тип Неттлешипа-Фоллса · XLOA |
| zh | X连锁隐性眼白化病 | 眼白化病，Nettleship-Falls型 |
| tr | X'e bağlı resesif oküler albinizm | OA1 · XLOA · Oküler albinizm tip 1 · Oküler albinizm, Nettleship-Falls tipi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300500 | E | validated | |
| ICD-10 | E70.3 | NTBT | attributed | validated |
| ICD-11 | 9E1Y | NTBT | index | validated |
| MONDO | 0021019 | E | validated | |
| MeSH | C537863 | E | validated | |
| UMLS | C0342684 | E | validated | |
| GARD | 8471 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:284804Ocular albinism
rare inborn errors of metabolism; rare genetic diseases; rare ophthalmic disorders
No children.
4
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| AP3D1 | Candidate gene tested in | Not yet assessed | HGNC:568 | ENSG00000065000 | 607246 | 19p13.3 | adaptor related protein complex 3 subunit delta 1 | |
| GPR143 | Disease-causing germline mutation(s) in | Assessed | HGNC:20145 | ENSG00000101850 | 300808 | Xp22.2 | G protein-coupled receptor 143 |
5
Prevalence and incidence
6 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.58 / 100 000 | Europe | Value and class | Validated | [EXPERT]_ORPHANET |
| Point prevalence | 1-9 / 1 000 000 | — | Europe | Class only | Validated | [EXPERT]_ORPHANET |
| Prevalence at birth | 1-9 / 1 000 000 | 0.84 / 100 000 | Denmark | Value and class | Validated | 9887374[PMID]_[EXPERT] |
| Point prevalence | 1-9 / 1 000 000 | — | Denmark | Class only | Validated | 9887374[PMID]_[EXPERT] |
| Prevalence at birth | 1-9 / 100 000 | 1 / 100 000 | United States | Value and class | Validated | 20301517[PMID] |
| Point prevalence | 1-9 / 100 000 | — | United States | Class only | Not yet validated | 20301517[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.
6
HPO phenotypes
14 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000615 | Abnormal pupil morphology | |
| HP:0000483 | Astigmatism | |
| HP:0007730 | Iris hypopigmentation | |
| HP:0000639 | Nystagmus | |
| HP:0001107 | Ocular albinism | |
| HP:0000613 | Photophobia | |
| Frequent (79-30%) | ||
| HP:0001103 | Abnormal macular morphology | |
| HP:0001480 | Freckling | |
| HP:0007750 | Hypoplasia of the fovea | |
| HP:0000486 | Strabismus | |
| Occasional (29-5%) | ||
| HP:0005592 | Giant melanosomes in melanocytes | |
| HP:0000545 | Myopia | |
| HP:0008069 | Neoplasm of the skin | |
| HP:0000505 | Visual impairment | |
Run the differential on the 6 obligate / very frequent terms
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/54
- This record as JSON: /data/d/54.json