Coats disease

General Information (adopted from Orphanet):

Synonyms, Signs: RETINAL TELANGIECTASIS
Leber miliary aneurysm
Congenital retinal telangiectasia
Number of Symptoms 9
OrphanetNr: 190
OMIM Id: 300216
ICD-10: H35.0
UMLs: C0154832
MeSH: D058456
MedDRA: 10015901
Snomed: 25506007
360455002

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Not applicable
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Congenital vitreoretinal dysplasia
 -Rare eye disease
 -Rare genetic disease
Secondary glaucoma due to a proliferation and differentiation anomaly
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000593) Abnormality of the anterior chamber Occasional [Orphanet] 15 / 7739
2
 (HPO:0000501) Glaucoma Frequent [Orphanet] 180 / 7739
3
 (HPO:0008046) Abnormality of the retinal vasculature Very frequent [Orphanet] 41 / 7739
4
 (HPO:0008059) Aplasia/Hypoplasia of the macula Frequent [Orphanet] 21 / 7739
5
 (HPO:0000572) Visual loss Occasional [Orphanet] 272 / 7739
6
 (HPO:0000541) Retinal detachment Frequent [Orphanet] 87 / 7739
7
 (HPO:0000486) Strabismus Very frequent [Orphanet] 576 / 7739
8
 (HPO:0008053) Aplasia/Hypoplasia of the iris Occasional [Orphanet] 38 / 7739
9
 (HPO:0000518) Cataract Occasional [Orphanet] 454 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Coats disease, also called retinal telangiectasis, is a sporadic disorder characterized by a defect of retinal vascular development that results in vessel leakage, subretinal exudation, and retinal detachment. The disorder was first reported by Coats (1908) in 6 ...
Molecular genetics OMIM Black et al. (1999) presented evidence that Coats disease can be caused by somatic mutation in the NDP gene (300658), which is also mutant in Norrie disease (310600). They reported a woman with a unilateral variant of Coats ...