ORPHA:53540
Goldmann-Favre syndrome
Synonyms: ESCS · Enhanced S-cone syndrome · Retinoschisis with early nyctalopia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Childhood
- Status
- active
Goldmann-Favre syndrome (GFS) is a vitreoretinal dystrophy characterized by early onset of night blindness, reduced bilateral visual acuity, and typical fundus findings (progressive pigmentary degenerative changes, macular edema, retinoschisis).
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Goldmann-Favre syndrome | ESCS · Enhanced S-cone syndrome · Retinoschisis with early nyctalopia |
| fr | Syndrome de Goldmann-Favre | ESCS · Syndrome d'augmentation des cônes bleus · Syndrome de rétinoschisis-héméralopie précoce |
| de | Goldmann-Favre-Syndrom | ESCS · Enhanced-S-Cone Syndrom · Retinoschisis mit früher Nyktalopie |
| es | Síndrome de Goldmann-Favre | ESCS · Retinosquisis con nictalopía temprana · Síndrome del incremento de conos S |
| it | Sindrome di Goldmann-Favre | Retinoschisi con nictalopia precoce · Sindrome da aumento dei coni S |
| nl | Syndroom van Goldmann-Favre | ESCS · Enhanced S-cone-syndroom · Retinoschisis met vroege nyctalopie |
| pt | Síndrome Goldmann-Favre | ESCS · Retinosquisis com nictalopia precoce · Síndrome de cone S intensificado |
| pl | Zespół Goldmanna i Favre'a | Rozwarstwienie siatkówki z wczesną ślepotą zmierzchową · Zespół wzmożonej aktywności systemu czopków krótkofalowych |
| cs | Goldmannův-Favreův syndrom | Syndrom zesíleného S-čípku · Retinoschíza s časnou nyktalopií · Goldmann-Favreův syndrom |
| uk | Синдром Гольдмана-Фавра | Посилений синдром S-конуса · Ретиношизис при ранній нікталопії |
| zh | Goldmann-Favre综合征 | 视网膜劈裂症伴早发夜盲症 |
| tr | Goldmann-Favre sendromu | Gelişmiş S-koni sendromu · Erken niktalopili retinoskizis |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 268100 | E | validated | |
| ICD-10 | H35.5 | NTBT | attributed | validated |
| ICD-11 | 9B70 | NTBT | index | validated |
| MONDO | 0100289 | E | validated | |
| MeSH | C564835 | E | validated | |
| UMLS | C0339541 | E | validated | |
| GARD | 10781 | 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:717324Rare genetic isolated 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 |
|---|---|---|---|---|---|---|---|---|
| NR2E3 | Disease-causing germline mutation(s) in | Assessed | HGNC:7974 | ENSG00000278570 | 604485 | 15q23 | nuclear receptor subfamily 2 group E member 3 | 10655056[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 50 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| 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
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/53540
- This record as JSON: /data/d/53540.json