ODCs

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1 OMIM reference -
1 associated gene
9 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

Osteoporosis - pseudoglioma

1 OMIM reference -
1 associated gene
21 signs/symptoms

Coats disease

Osteoporosis - pseudoglioma

(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		Osteoporosis - pseudoglioma
	Synonym(s): - Congenital retinal telangiectasia - Leber miliary aneurysm		Synonym(s): - OPPG - Ocular form of osteogenesis imperfecta

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare neurologic 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: <1 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - 1 MeSH reference: D058456		External references: 1 OMIM reference - 1 MeSH reference: C536063


COMMON SIGNS	- Cataract / lens opacification - Visual loss / blindness / amblyopia

Coats disease		Osteoporosis - pseudoglioma
	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		Very frequent - Abnormal vertebral size / shape - Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Autosomal recessive inheritance - Bowed diaphysis / diaphyses / long bones - Delayed bone age - Hyperextensible joints / articular hyperlaxity - Hypotonia - Mutiple fractures / bone fragility - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets Frequent - Intellectual deficit / mental / psychomotor retardation / learning disability - Pupillary anomalies / mydriasis / myosis / tonic pupil - Short stature / dwarfism / nanism Occasional - Depressed nasal bridge - Generalized obesity - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Kyphosis - Low hair line (back) - Micrognathia / retrognathia / micrognathism / retrognathism - Optic nerve anomaly / optic atrophy / anomaly of the papilla