ODCs

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1 OMIM reference -
1 associated gene
21 signs/symptoms

COMMON GENES: 1
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

2 OMIM references -
2 associated genes
10 signs/symptoms

Osteoporosis - pseudoglioma

Hyperostosis corticalis generalisata

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


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	LRP5	(0.68)	SOST

Citations in the biomedical literature:

Osteoporosis - pseudoglioma		Hyperostosis corticalis generalisata
	Synonym(s): - OPPG - Ocular form of osteogenesis imperfecta		Synonym(s): - Van Buchem disease

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

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the musculoskeletal system and connective tissue -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: - Average age onset: - Average age of death: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - 1 MeSH reference: C536063		External references: 2 OMIM references - No MeSH references


COMMON SIGNS	- Autosomal recessive inheritance

Osteoporosis - pseudoglioma		Hyperostosis corticalis generalisata
	Very frequent - Abnormal vertebral size / shape - Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Bowed diaphysis / diaphyses / long bones - Cataract / lens opacification - Delayed bone age - Hyperextensible joints / articular hyperlaxity - Hypotonia - Mutiple fractures / bone fragility - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets - Visual loss / blindness / amblyopia 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		Very frequent - 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