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Osteosclerosis - developmental delay - craniosynostosis

1 associated gene
17 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

1 OMIM reference -
1 associated gene
9 signs/symptoms

Osteosclerosis - developmental delay - craniosynostosis

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:

Osteosclerosis - developmental delay - craniosynostosis		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: neonatal/infancy Average age of death: - 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: No OMIM references No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: D058456


COMMON SIGNS	- Visual loss / blindness / amblyopia

Osteosclerosis - developmental delay - craniosynostosis		Coats disease
	Very frequent - Autosomal dominant inheritance - Brachycephaly / flat occiput - Broad forehead - Dense / thickened skull / calvarium / cranial / facial hyperostosis - Enlargment of jaw / large jaw - High forehead - Hypertelorism - Macrocephaly / macrocrania / megalocephaly / megacephaly - Osteosclerosis / osteopetrosis / bone condensation Frequent - Craniostenosis / craniosynostosis / sutural synostosis Occasional - Cranial hypertension - Facial pain / cephalalgia / migraine - Facial palsy - Hearing loss / hypoacusia / deafness - Intellectual deficit / mental / psychomotor retardation / learning disability - Optic nerve anomaly / optic atrophy / anomaly of the papilla		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