ORPHA:488197
Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood, Infancy
- Status
- active
A rare, genetic retinal disorder characterized by bilateral iris coloboma, progressive retinal dystrophy and marked loss of vision, with or without congenital cataracts. Iridolenticular adhesions, scattered retinal pigmented epithelia mottling, and mild hypermetropic astigmatism may be associated.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome | |
| fr | Syndrome familial de dystrophie rétinienne progressive-colobome-cataracte congénitale | |
| de | Familiäre progressive Netzhautdystrophie-Iriskolobom-kongenitale Katarakt-Syndrom | |
| es | Síndrome de distrofia retiniana progresiva-coloboma de iris-catarata congénita familiar | |
| it | Sindrome familiare distrofia retinica progressiva - coloboma dell'iride - cataratta congenita | |
| nl | Familiale progressieve retinale dystrofie - iriscoloboom - congenitaal cataract-syndroom | |
| pt | Síndrome de distrofia retiniana progressiva familiar-coloboma da íris-catarata congénita | |
| pl | Zespół rodzinnej postępującej dystrofii siatkówki, kolobomy tęczówki i wrodzonej zaćmy | |
| cs | Syndrom zahrnující familiární progresivní dystrofii sítnice, kolobom duhovky a vrozenou kataraktu | |
| uk | Сімейний синдром прогресуючої дистрофії сітківки-колобоми райдужки-вродженої катаракти | |
| zh | 家族性进行性视网膜营养不良-虹膜裂-先天性白内障综合征 | |
| tr | Ailesel ilerleyici retinal distrofi-iris kolobomu-doğumsal katarakt sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616722 | E | validated | |
| ICD-10 | Q13.8 | NTBT | attributed | validated |
| ICD-11 | LA10.Y | NTBT | attributed | validated |
| MONDO | 0014747 | E | validated | |
| UMLS | C5567488 | 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 (2):
- ORPHA:98634Anterior segment developmental anomaly without extraocular manifestations
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders - ORPHA:716405Rare disorder with progressive generalized retinal disorder as a major feature
rare genetic diseases; rare ophthalmic disorders
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MIR204 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:31582 | ENSG00000207935 | 610942 | 9q21.12 | microRNA 204 | 26056285[PMID]_26159420[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 9 cases | Worldwide | Case(s) | Validated | 26056285[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26056285[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.
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/488197
- This record as JSON: /data/d/488197.json