ORPHA:363989
Familial benign flecked retina
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adult, Childhood
- Status
- active
Familial benign flecked retina is a rare retinal dystrophy characterized by diffuse bilateral white-yellow fleck-like lessions extending to the far periphery of the retina but sparing the foveal region, with asymptomatic clinical phenotype and absence of electrophysiologic deficits.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial benign flecked retina | |
| fr | Rétine tachetée familiale bénigne | |
| de | Gefleckte Retina, benigne familiäre | |
| es | Retina moteada familiar benigna | |
| it | Retina maculata familiar benigna | |
| nl | Familiale goedaardige gespikkelde retina | |
| pt | Retina com manchas, forma familiar benigna | |
| pl | Łagodne rodzinne plamki siatkówki | |
| cs | Rodinná nezhoubná skvrna sítnice | |
| uk | Сімейна доброякісна крапчаста сітківка | |
| zh | 家族性良性斑点视网膜病 | |
| tr | Ailesel selim benekli retina |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 228980 | E | validated | |
| ICD-10 | H35.5 | NTBT | attributed | validated |
| ICD-11 | 9B70 | NTBT | attributed | validated |
| MONDO | 0009235 | E | validated | |
| MeSH | C565564 | E | validated | |
| UMLS | C1856718 | 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:716367Rare isolated non-progressive generalized retinal disorder
rare genetic diseases; rare ophthalmic disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PLA2G5 | Disease-causing germline mutation(s) in | Assessed | HGNC:9038 | ENSG00000127472 | 601192 | 1p36.13 | phospholipase A2 group V | 22137173[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 12 cases | Worldwide | Case(s) | Validated | 7426586[PMID]_8703867[PMID]_17502520[PMID]_22137173[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 7426586[PMID]_8703867[PMID]_17502520[PMID]_22137173[PMID]_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/363989
- This record as JSON: /data/d/363989.json