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Hyperostosis corticalis generalisata

2 OMIM references -
2 associated genes
10 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
9 signs/symptoms

Hyperostosis corticalis generalisata

Coats disease

LRP5	(UniProt - OMIM)		NDP	(UniProt - OMIM)
SOST	(UniProt - OMIM)


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

Citations in the biomedical literature:

Hyperostosis corticalis generalisata		Coats disease
	Synonym(s): - Van Buchem disease		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): - Diseases of the musculoskeletal system and connective tissue -		Classification (ICD10): - Diseases of the eye and adnexa -

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

	External references: 2 OMIM references - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: D058456

Hyperostosis corticalis generalisata		Coats disease
	Very frequent - Autosomal recessive inheritance - Clavicle absent / abnormal - Cortical anomaly / thick bone cortical layer - Dense / thickened skull / calvarium / cranial / facial hyperostosis - Enlarged diaphysis / diaphyses - Enlargment of jaw / large jaw - Osteosclerosis / osteopetrosis / bone condensation - Prognathism / prognathia Frequent - Facial palsy - Sensorineural deafness / hearing loss		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