ORPHA:139455
Autosomal recessive bestrophinopathy
Synonyms: Retinopathy, Burgess-Black type
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- All ages
- Status
- active
A rare retinal dystrophy, characterized by central visual loss in the first 2 decades of life, associated with an absent electrooculogram (EOG) light rise and a reduced electroretinogram (ERG).
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive bestrophinopathy | Retinopathy, Burgess-Black type |
| fr | Bestrophinopathie autosomique récessive | Rétinopathie type Burgess-Black |
| de | Bestrophinopathie, autosomal-rezessive | Retinopathie Typ Burgess-Black |
| es | Bestrofinopatía autosómica recesiva | Retinopatía tipo Burgess-Black |
| it | Bestrofinopatia autosomica recessiva | Retinopatia, tipo Burgess-Black |
| nl | Autosomaal recessieve bestrofinopathie | Retinopathie, Burgess-Black-type |
| pt | Bestrofinopatia autossómica recessiva | Retinopatia, tipo Burgess-Black |
| pl | Autosomalna recesywna bestrofinopatia | Retinopatia, typ Burgessa i Blacka |
| cs | Autozomálně recesivní bestrofinopatie | Retinopatie, Burgessův-Blackův typ · Retinopatie, Burgess-Blackův typ |
| uk | Аутосомно-рецесивна бестрофінопатія | Ретинопатія, тип Берджеса-Блека |
| zh | 常染色体隐性遗传卵黄样营养不良 | 视网膜病Burgess-Black型 |
| tr | Otozomal resesif bestrofinopati | Retinopati, Burgess-Black tipi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 611809 | E | validated | |
| ICD-10 | H35.5 | NTBT | attributed | validated |
| ICD-11 | 9B71.Y | NTBT | index | validated |
| MONDO | 0012733 | E | validated | |
| UMLS | C3888198 | E | validated | |
| GARD | 10301 | 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 (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.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| BEST1 | Disease-causing germline mutation(s) in | Assessed | HGNC:12703 | ENSG00000167995 | 607854 | 11q12.3 | bestrophin 1 | 18179881[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 20 cases | Worldwide | Case(s) | Validated | 21825197[PMID]_24337562[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.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/139455
- This record as JSON: /data/d/139455.json