ORPHA:178333
Åland Islands eye disease
Synonyms: AIED · Forsius-Eriksson syndrome · Forsius-Eriksson type ocular albinism
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
An X-linked recessive retinal disease characterized by fundus hypopigmentation, decreased visual acuity, nystagmus, astigmatism, progressive axial myopia, defective dark adaptation and protanopia.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Åland Islands eye disease | AIED · Forsius-Eriksson syndrome · Forsius-Eriksson type ocular albinism |
| fr | Maladie ophtalmique des îles Åland | AIED · Albinisme oculaire lié à l'X type Forsius-Eriksson · Syndrome de Forsius-Eriksson |
| de | Åland Island-Augenkrankheit | Albinismus, okulärer, Typ Forsius-Eriksson · Forsius-Eriksson-Syndrom |
| es | Enfermedad ocular de las islas Åland | AIED · Albinismo ocular tipo Forsius-Eriksson · Síndrome de Forsius-Eriksson |
| it | Malattia oculare dell'isola di Åland | AIED · Albinismo oculare, tipo Forsius-Eriksson · Sindrome di Forsius-Eriksson |
| nl | Åland eiland-oogziekte | AIED · Oculair albinisme, Forsius-Eriksson-type · Syndroom van Forsius-Eriksson |
| pt | Doença ocular tipo ilha Aland | |
| pl | Choroba oczu Wysp Alandzkich | AIED · Albinizm oczny typu Forsiusa i Erikssona · Zespół Forsiusa i Erikssona |
| cs | Ålandská oční nemoc | AIED · Forsius-Eriksson syndrome · Forsius-Eriksson type ocular albinism · Forsius-Erikssonův syndrom · Forsius-Erikssonův typ okulárního albinismu |
| uk | Хвороба очей Аландських островів | AIED · Синдром Форсіуса-Еріксона · Очний альбінізм типу Форсіуса-Еріксона |
| zh | 奥兰群岛眼病 | Forsius-Eriksson型眼白化病 |
| tr | Åland Adaları göz hastalığı | AIED · Forsius-Eriksson sendromu · Forsius-Eriksson tipi oküler albinizm |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300600 | E | validated | |
| ICD-10 | H35.5 | NTBT | attributed | validated |
| ICD-11 | 9B7Y | NTBT | index | validated |
| MONDO | 0010371 | E | validated | |
| MeSH | C562664 | E | validated | |
| UMLS | C0268505 | E | validated | |
| GARD | 10574 | 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:717330Rare genetic isolated non-progressive predominantly macular disorder
rare genetic diseases - ORPHA:716367Rare isolated non-progressive generalized retinal disorder
rare genetic diseases; rare ophthalmic disorders - ORPHA:716419Rare isolated non-progressive predominantly macular disorder
rare ophthalmic disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CACNA1F | Disease-causing germline mutation(s) in | Assessed | HGNC:1393 | ENSG00000102001 | 300110 | Xp11.23 | calcium voltage-gated channel subunit alpha1 F | 17525176[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 families | Worldwide | Family(ies) | Validated | 17525176[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
9 annotations · validated 2017-02-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000512 | Abnormal electroretinogram | |
| HP:0000483 | Astigmatism | |
| HP:0000551 | Color vision defect | |
| HP:0030513 | Difficulty adjusting from light to dark | |
| HP:0007894 | Hypopigmentation of the fundus | |
| HP:0007750 | Hypoplasia of the fovea | |
| HP:0000545 | Myopia | |
| HP:0000639 | Nystagmus | |
| HP:0007663 | Reduced visual acuity | |
Run the differential on the 9 obligate / very frequent terms
Annotation source: 17525176[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/178333
- This record as JSON: /data/d/178333.json