Details of Disease | DrugMAP

General Information of Disease (ID: DISNYIPM)

Disease Name	Idiopathic juvenile osteoporosis
Synonyms	osteoporosis, juvenile; Paediatric osteoporosis; idiopathic osteoporosis; Ijo; Pediatric osteoporosis; juvenile osteoporosis; idiopathic juvenile osteoporosis
Definition	Idiopathic juvenile osteoporosis (IJO) is a primary condition of bone demineralization childhood or adolescence that presents with pain in the back and extremities, walking difficulties, multiple fractures, and radiological evidence of osteoporosis. Onset usually occurs in the prepubertal period, between 8 and 12 years of age.
Disease Hierarchy	DISF2JE0: Osteoporosis DIS8I9FS: Hereditary disorder of connective tissue DIS77ACK: Rheumatic disorder DISBBY0S: Idiopathic disease DISNYIPM: Idiopathic juvenile osteoporosis
Disease Identifiers	MONDO ID MONDO_0019409 MESH ID C537700 UMLS CUI C0264080 OMIM ID 259750 MedGen ID 120494 Orphanet ID 85193

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
WNT1	OTULVPZW	Strong	Autosomal dominant	[1]
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This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
DKK1	TTE3RAC	Strong	SusceptibilityMutation	[2]
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References

1	Mutations in WNT1 cause different forms of bone fragility. Am J Hum Genet. 2013 Apr 4;92(4):565-74. doi: 10.1016/j.ajhg.2013.02.010. Epub 2013 Mar 14.
2	Rare variations in WNT3A and DKK1 may predispose carriers to primary osteoporosis.Eur J Med Genet. 2012 Oct;55(10):515-9. doi: 10.1016/j.ejmg.2012.06.011. Epub 2012 Jul 9.