MRCS syndrome
Synonyms: Microcornea-rod-cone dystrophy-cataract-posterior staphyloma syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
MRCS syndrome is a rare, genetic retinal dystrophy disorder characterized by bilateral microcornea, rod-cone dystrophy, cataracts and posterior staphyloma, in the absence of other systemic features. Night blindness is typically the presenting manifestation and nystagmus, strabismus, astigmatism and angle closure glaucoma may be associated findings. Progressive visual acuity deterioration, due to pulverulent-like cataracts, results in poor vision ranging from no light perception to 20/400.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | MRCS syndrome | Microcornea-rod-cone dystrophy-cataract-posterior staphyloma syndrome |
| fr | Syndrome MRCS | Syndrome de microcornée-dystrophie des cônes et des bâtonnets-cataracte-staphylome postérieur |
| de | MRCS-Syndrom | Mikrokornea - Zapfen-Stäbchen-Dystrophie -Katarakt - posteriores Staphylom |
| es | Síndrome MRCS | Microcórnea-distrofia de conos y bastones-cataratas-estafiloma posterior |
| it | Sindrome MRCS | Microcornea - distrofia dei coni e dei bastoncelli - cataratta - stafiloma posteriore |
| nl | MRCS-syndroom | Microcornea - staaf-kegeldystrofie - cataract - posterieur stafyloom-syndroom |
| pt | Síndrome MRCS | |
| pl | Zespół MRCS | Mała rogówka - dystrofia czopków i pręcików - zaćma - garbiak tylny |
| cs | MRCS syndrom | Syndrom zahrnující mikrokorneu, dystrofii tyčinek a čípků, katarakta a zadní stafylom |
| uk | Синдром MRCS | Синдром мікророгівки-стрижневої дистрофії рогівки-катарактальної стафіломи-задньої стафіломи |
| zh | MRCS综合征 | 小角膜-视杆-视锥营养不良-白内障-后葡萄肿综合征 |
| tr | MRCS sendromu | Mikrokornea-çubuk-koni distrofi-katarakt-posterior stafiloma sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 193220 | NTBT | validated | |
| OMIM | 619082 | BTNT | validated | |
| ICD-10 | H35.5 | NTBT | attributed | validated |
| ICD-11 | 9E1Y | NTBT | index | validated |
| MONDO | 0016979 | E | validated | |
| UMLS | C4749856 | 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 (4):
- ORPHA:717336Rare genetic isolated progressive predominantly macular disorder
rare genetic diseases - ORPHA:716432Rare isolated progressive predominantly macular disorder
rare ophthalmic disorders - ORPHA:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:522548Syndromic genetic cataract
rare genetic diseases
No children.
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 | 15452077[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 7 cases | Worldwide | Case(s) | Validated | 16458719[PMID]_12543751[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_16458719[PMID]_12543751[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/263347
- This record as JSON: /data/d/263347.json