Iridocorneal endothelial syndrome
Synonyms: ICE syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adult
- Status
- active
Iridocorneal endothelial (ICE) syndrome describes a group of progressive corneal proliferative endotheliopathies comprised of Chandlers syndrome, Cogan-Reese syndrome and essential iris atrophy, affecting mainly young adult females and characterized by iris holes and atrophy, papillary distortion, anterior synechiae, corneal edema and often with secondary glaucoma and corneal decompensation as complications
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Iridocorneal endothelial syndrome | ICE syndrome |
| fr | Syndrome irido-cornéo-endothélial | Syndrome ICE |
| de | Iridokorneales endotheliales Syndrom | ICE-Syndrom |
| es | Síndrome endotelial iridocorneal | Síndrome ICE |
| it | Sindrome endoteliale iridocorneale | Sindrome ICE |
| nl | Iridocorneaal endotheliaal syndroom | ICE-syndroom |
| pt | Síndrome endotelial irido-corneano | Síndrome ICE |
| pl | Zespół śródbłonkowy tęczówkowo-rogówkowy | Zespół ICE |
| cs | Iridokorneální endoteliální syndrom | ICE syndrom |
| uk | Іридокорнеальний ендотеліальний синдром | ДВЗ-синдром |
| zh | 虹膜角膜内皮综合征 | ICE综合征 |
| tr | Iridokorneal endotel sendromu | ICE sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | H21.1 | NTBT | attributed | validated |
| ICD-11 | LA11.Y | NTBT | index | validated |
| MONDO | 0018988 | E | validated | |
| MeSH | D057129 | E | validated | |
| UMLS | C1096100 | E | validated | |
| GARD | 60 | E | validated | |
| MedDRA | 10053678 | 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:98631Congenital malformation of the eye with glaucoma as a major feature
rare developmental anomalies during embryogenesis; rare ophthalmic disorders - ORPHA:525677Genetic congenital malformation of the eye with glaucoma as a major feature
rare genetic diseases
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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.
HPO phenotypes
16 annotations · validated 2021-09-09| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0011489 | Abnormal migration of corneal endothelium | |
| HP:0011483 | Anterior synechiae of the anterior chamber | |
| HP:0012040 | Corneal stromal edema | |
| HP:0009918 | Ectopia pupillae | |
| HP:0000501 | Glaucoma | |
| HP:0001089 | Iris atrophy | |
| HP:0000529 | Progressive visual loss | |
| HP:0007663 | Reduced visual acuity | |
| Occasional (29-5%) | ||
| HP:0025309 | Abnormal pupil shape | |
| HP:0007818 | Central heterochromia | |
| HP:0007990 | Hypoplastic iris stroma | |
| HP:0011525 | Iris nevus | |
| HP:0011500 | Polycoria | |
| HP:0011484 | Posterior synechiae of the anterior chamber | |
| HP:0025358 | Uveal ectropion | |
| Very rare (<4-1%) | ||
| HP:0001100 | Heterochromia iridis | |
Annotation source: 29331589[PMID]_29670326[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/64734
- This record as JSON: /data/d/64734.json