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1 OMIM reference -
1 associated gene
9 signs/symptoms

PROTEIN INTERACTIONS: 1

Autosomal dominant osteosclerosis, Worth type

1 OMIM reference -
1 associated gene
14 signs/symptoms

Coats disease

Autosomal dominant osteosclerosis, Worth type

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	NDP	(0.63)	LRP5

Citations in the biomedical literature:

Coats disease		Autosomal dominant osteosclerosis, Worth type
	Synonym(s): - Congenital retinal telangiectasia - Leber miliary aneurysm		Synonym(s): - Endosteal hyperostosis, Worth type - Worth syndrome

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease

	Classification (ICD10): - Diseases of the eye and adnexa -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: unknown Average age onset: childhood Average age of death: normal Type of inheritance: sporadic		Epidemiological data: Class of prevalence: - Average age onset: - Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: D058456		External references: 1 OMIM reference - No MeSH references

Coats disease		Autosomal dominant osteosclerosis, Worth type
	Very frequent - Retinal vascular anomalies / retinal telangiectasia - Strabismus / squint Frequent - Glaucoma - Macular dystrophy / absence / hypoplasia of the macula - Retinal detachment Occasional - Aniridia / iris hypoplasia - Anterior chamber anomaly - Cataract / lens opacification - Visual loss / blindness / amblyopia		Very frequent - Anomalies of the ribs - Autosomal dominant inheritance - Clavicle absent / abnormal - Cortical anomaly / thick bone cortical layer - Dense / thickened skull / calvarium / cranial / facial hyperostosis - Enlarged diaphysis / diaphyses - Osteosclerosis / osteopetrosis / bone condensation - Palate exostoses / torus palatinus Frequent - Abnormal vertebral size / shape - Enlargment of jaw / large jaw Occasional - Facial palsy - Nystagmus - Prognathism / prognathia - Sensorineural deafness / hearing loss