ORPHA:827
Stargardt disease
Synonyms: Fundus flavimaculatus · Stargardt 1
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Adolescent, Adult, Childhood, Elderly
- Status
- active
A rare ophthalmic disorder that is usually characterized by a progressive loss of central vision associated with irregular macular and perimacular yellow-white fundus flecks, and a so-called ''beaten bronze'' atrophic central macular lesion.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Stargardt disease | Fundus flavimaculatus · Stargardt 1 |
| fr | Maladie de Stargardt | Dystrophie maculaire flavimaculée · Fundus flavimaculatus · Stargardt 1 |
| de | Stargardt-Krankheit | Fundus flavimaculatus · Stargardt Makuladystrophie |
| es | Enfermedad de Stargardt | = en |
| it | Malattia di Stargardt | = en |
| nl | Ziekte van Stargardt | = en |
| pt | Doença de Stargardt | Fundo flavimaculatus |
| pl | Choroba Stargardta | Dno żółto-plamiste · Stargardt 1 |
| cs | Stargardtova nemoc | = en |
| uk | Хвороба Старгардта | Очне яблуко (Fundus flavimaculatus) · Старгардт 1 |
| zh | Stargardt病 | 眼底黄色斑点症 |
| tr | Stargardt hastalığı | Stargardt 1 · Fundus flavimakulatus |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 248200 | E | validated | |
| OMIM | 600110 | BTNT | validated | |
| OMIM | 603786 | BTNT | validated | |
| ICD-10 | H35.5 | NTBT | inclusion | validated |
| ICD-11 | 9B70 | NTBT | index | validated |
| MONDO | 0019353 | E | validated | |
| MeSH | D000080362 | E | validated | |
| UMLS | C0271093 | E | validated | |
| GARD | 181 | E | validated | |
| MedDRA | 10062766 | 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:717324Rare genetic isolated progressive generalized retinal disorder
rare genetic diseases; rare ophthalmic disorders - ORPHA:717336Rare genetic isolated progressive predominantly macular disorder
rare genetic diseases - ORPHA:716432Rare isolated progressive predominantly macular disorder
rare ophthalmic disorders
No children.
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Genes
5 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CNGB3 | Candidate gene tested in | Not yet assessed | HGNC:2153 | ENSG00000170289 | 605080 | 8q21.3 | cyclic nucleotide gated channel subunit beta 3 | 15712225[PMID] |
| PRPH2 | Candidate gene tested in | Not yet assessed | HGNC:9942 | ENSG00000112619 | 179605 | 6p21.1 | peripherin 2 | |
| ABCA4 | Disease-causing germline mutation(s) in | Assessed | HGNC:34 | ENSG00000198691 | 601691 | 1p22.1 | ATP binding cassette subfamily A member 4 | 20633576[PMID] |
| ELOVL4 | Disease-causing germline mutation(s) in | Assessed | HGNC:14415 | ENSG00000118402 | 605512 | 6q14.1 | ELOVL fatty acid elongase 4 | 20633576[PMID] |
| PROM1 | Disease-causing germline mutation(s) in | Assessed | HGNC:9454 | ENSG00000007062 | 604365 | 4p15.32 | prominin 1 | 18654668[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 13 / 100 000 | Europe | Value and class | Validated | European Medicines Agency 2018[OTHER] |
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
16 annotations · validated 2023-09-08| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0007663 | Reduced visual acuity | |
| Very frequent (99-80%) | ||
| HP:0000610 | Abnormal choroid morphology | Diagnostic criterion |
| HP:0000493 | Abnormal foveal morphology | |
| HP:0008002 | Abnormality of macular pigmentation | |
| HP:0000649 | Abnormality of visual evoked potentials | |
| HP:0000603 | Central scotoma | |
| HP:0000551 | Color vision defect | |
| HP:0000608 | Macular degeneration | |
| HP:0000662 | Nyctalopia | |
| HP:0007704 | Paroxysmal involuntary eye movements | Diagnostic criterion |
| HP:0007722 | Retinal pigment epithelial atrophy | |
| HP:0007814 | Retinal pigment epithelial mottling | |
| HP:0030329 | Retinal thinning | |
| Frequent (79-30%) | ||
| HP:0008059 | Aplasia/Hypoplasia of the macula | |
| HP:0030786 | Photopsia | |
| HP:0030500 | Yellow/white lesions of the macula | Diagnostic criterion |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 36508525[PMID]_27739528[PMID]_27491360[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/827
- This record as JSON: /data/d/827.json