Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome
Synonyms: Nanophthalmos-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adult
- Status
- active
Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome is a rare, genetic, non-syndromic developmental defect of the eye disorder characterized by the association of posterior microphthalmia, retinal dystrophy compatible with retinitis pigmentosa, localized foveal schisis and optic disc drusen. Patients present high hyperopia, usually adult-onset progressive nyctalopia and reduced visual acuity, and, on occasion, acute-angle glaucoma.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome | Nanophthalmos-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome |
| fr | Syndrome de microphtalmie-rétinite pigmentaire-fovéoschisis-drusen de la papille optique | Syndrome de nanophtalmie-rétinite pigmentaire-fovéoschisis-drusen de la papille optique |
| de | Mikrophthalmie-Retinitis pigmentosa-Foveoschisis-Drusenpapille-Syndrom | Nanophthalmie-Retinitis pigmentosa-Foveoschisis-Optikusdrusen-Syndrom |
| es | Síndrome de microftalmia-retinosis pigmentaria-foveosquisis-drusas del disco óptico | Síndrome de nanoftalmia-retinosis pigmentaria-foveosquisis-drusen del disco óptico |
| it | Associazione microftalmia, retinite pigmentosa, schisi della fovea e drusen del disco ottico | |
| nl | Microftalmie - retinitis pigmentosa - foveoschisis - drusenpapil-syndroom | Nanoftalmie - retinitis pigmentosa - foveoschisis - drusenpapil-syndroom |
| pt | Síndrome de microftalmia-retinite pigmentosa-foveosquisis-drusas do disco óptico | |
| pl | Małoocze - zwyrodnienie barwnikowe siatkówki - rozszczep dołka - druzy tarczy nerwu wzrokowego | = en |
| cs | Syndrom zahrnující mikrooftalmii, retinitis pigmentosa, foveoschisis a drúzy zrakového nervu | = en |
| uk | Синдром мікрофтальмії-пігментного ретиніту-фовеошизис- друз диска зорового нерва | Синдром наноофтальмозу - пігментного ретиніту - фовеошизису - друзів диска зорового нерва |
| zh | 小眼症-色素性视网膜炎-黄斑劈裂-视神经盘玻璃疣综合征 | 真性小眼球-色素性视网膜炎-黄斑劈裂-视神经盘玻璃疣综合征 |
| tr | Mikroftalmi-retinitis pigmentosa-foveoşizis-optik disk drusen sendromu | Nanoftalmos-retinitis pigmentosa-foveoskizis-optik disk drusen sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 611040 | E | validated | |
| ICD-10 | Q15.8 | NTBT | attributed | validated |
| ICD-11 | LA10.Y | NTBT | attributed | validated |
| MONDO | 0012605 | E | validated | |
| UMLS | C4755272 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:716405Rare disorder with progressive generalized retinal disorder as a major feature
rare genetic diseases; rare ophthalmic disorders - ORPHA:202948Syndromic microphthalmia-anophthalmia-coloboma
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MFRP | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:18121 | ENSG00000235718 | 606227 | 11q23.3 | membrane frizzled-related protein | 17167404[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 9 cases | Worldwide | Case(s) | Validated | 19753314[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_19753314[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/251279
- This record as JSON: /data/d/251279.json