Coats disease
Synonyms: Congenital retinal telangiectasia · Leber miliary aneurysm
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Childhood
- Status
- active
Coats disease (CD) is an idiopathic disorder characterized by retinal telangiectasia with deposition of intraretinal or subretinal exudates, potentially leading to retinal detachment and unilateral blindness. CD is classically an isolated and unilateral condition affecting otherwise healthy young children.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Coats disease | Congenital retinal telangiectasia · Leber miliary aneurysm |
| fr | Maladie de Coats | Anévrisme miliaire de Leber · Télangiectasie rétinienne congénitale |
| de | Coats-Krankheit | Coats-Retinopathie · Teleangiektasien der Retina, kongenitale |
| es | Enfermedad de Coats | |
| it | Malattia di Coats | Aneurisma miliare di Leber · Telangectasia retinica congenita |
| nl | Ziekte van Coats | Congenitale retinale teleangiëctasie · Miliair aneurysma van Leber |
| pt | Doença Coats | Aneurisma miliar de Leber · Telangiectasia retiniana congénita |
| pl | Choroba Coatsa | Tętniak prosówkowaty Lebera · Wrodzona telangiektazja siatkówki |
| cs | Coatsova nemoc | Vrozená retinální teleangiektázie · Leberovo miliární aneuryzma |
| uk | Хвороба Коатса | Вроджена телеангіектазія сітківки · Міліарна аневризма Лебера |
| zh | Coats病 | 先天性视网膜毛细血管扩张 |
| tr | Coats hastalığı | Leber milier anevrizma · Doğumsal retinal telenjiektazi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300216 | E | validated | |
| ICD-10 | H35.0 | NTBT | inclusion | validated |
| ICD-11 | LD21.Y | NTBT | index | validated |
| MONDO | 0010269 | E | validated | |
| MeSH | D058456 | E | validated | |
| UMLS | C0154832 | E | validated | |
| GARD | 6121 | E | validated | |
| MedDRA | 10015901 | 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 (8):
- ORPHA:98631Congenital malformation of the eye with glaucoma as a major feature
rare developmental anomalies during embryogenesis; rare ophthalmic disorders - ORPHA:183503Genetic central nervous system and retinal vascular disease
rare genetic diseases - ORPHA:525677Genetic congenital malformation of the eye with glaucoma as a major feature
rare genetic diseases - ORPHA:71281Rare central nervous system and retinal vascular disease
rare neurological diseases - ORPHA:716459Rare disorder with progressive retinal vasculopathy as a major feature
rare ophthalmic disorders - ORPHA:717348Rare genetic disorder with progressive retinal vasculopathy as a major feature
rare genetic diseases - ORPHA:98683Syndromic disorder with strabismus
rare ophthalmic disorders - ORPHA:522520Syndromic genetic disorder with strabismus
rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NDP | Candidate gene tested in | Not yet assessed | HGNC:7678 | ENSG00000124479 | 300658 | Xp11.3 | norrin cystine knot growth factor NDP | 20301506[PMID]_10484772[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | <1 / 1 000 000 | 0.09 / 100 000 | United Kingdom | Value and class | Validated | 20865031[PMID]_[EXPERT] |
| 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
8 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0008046 | Abnormal retinal vascular morphology | |
| HP:0000486 | Strabismus | |
| Frequent (79-30%) | ||
| HP:0001103 | Abnormal macular morphology | |
| HP:0000501 | Glaucoma | |
| HP:0000541 | Retinal detachment | |
| Occasional (29-5%) | ||
| HP:0000593 | Abnormal anterior chamber morphology | |
| HP:0008053 | Aplasia/Hypoplasia of the iris | |
| HP:0000518 | Cataract | |
Run the differential on the 2 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/190
- This record as JSON: /data/d/190.json