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Autosomal dominant osteopetrosis type 1

1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
9 signs/symptoms

Autosomal dominant osteopetrosis type 1

Coats disease

(UniProt - OMIM)

(UniProt - OMIM)


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

Citations in the biomedical literature:

Autosomal dominant osteopetrosis type 1		Coats disease
	Synonym(s): (no synonyms)		Synonym(s): - Congenital retinal telangiectasia - Leber miliary aneurysm

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

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

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: adolescence / young Average age of death: normal Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: unknown Average age onset: childhood Average age of death: normal Type of inheritance: sporadic

	External references: 1 OMIM reference - 1 MeSH reference: C536056		External references: 1 OMIM reference - 1 MeSH reference: D058456

Coats disease
	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
Autosomal dominant osteopetrosis type 1
(no data available)