ODCs

Cytoscape Web

Click node...

2 OMIM references -
2 associated genes
15 signs/symptoms

PROTEIN INTERACTIONS: 1

Idiopathic juvenile osteoporosis

2 OMIM references -
4 associated genes
6 signs/symptoms

Sclerosteosis

Idiopathic juvenile osteoporosis

LRP4	(UniProt - OMIM)		DKK1	(UniProt - OMIM)
SOST	(UniProt - OMIM)		LRP5	(UniProt - OMIM)
			WNT1	(UniProt - OMIM)
			WNT3A	(UniProt - OMIM)


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

Citations in the biomedical literature:

Sclerosteosis		Idiopathic juvenile osteoporosis
	Synonym(s): - Cortical hyperostosis - syndactyly		Synonym(s): - IJO - Juvenile osteoporosis

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

	Classification (ICD10): - Diseases of the musculoskeletal system and connective tissue -		Classification (ICD10): - Diseases of the musculoskeletal system and connective tissue -

	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: - Type of inheritance: autosomal dominant

	External references: 2 OMIM references - 1 MeSH reference: C537525		External references: 2 OMIM references - No MeSH references

Sclerosteosis		Idiopathic juvenile osteoporosis
	Very frequent - Autosomal recessive inheritance - Broad nose / nasal bridge - Cortical anomaly / thick bone cortical layer - Dense / thickened skull / calvarium / cranial / facial hyperostosis - Dysplastic / thick / grooved fingernails - Enlarged diaphysis / diaphyses - Enlargment of jaw / large jaw - Irregular length / shape of fingers - Osteosclerosis / osteopetrosis / bone condensation - Syndactyly of fingers / interdigital palm - Tall stature / gigantism / growth acceleration Frequent - Facial palsy - Ptosis - Sensorineural deafness / hearing loss Occasional - Optic nerve anomaly / optic atrophy / anomaly of the papilla		Very frequent - Bone pain - Mutiple fractures / bone fragility - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets Frequent - Abnormal gait - Motor deficit / trouble Occasional - Kyphosis