Details of Disease

General Information of Disease (ID: DISIXWT1)

• Disease Name: Osteoporosis-pseudoglioma syndrome
• Synonyms: Ops; pseudoglioma with bone fragility; osteogenesis imperfecta, ocular form; osteoporosis pseudoglioma syndrome; osteogenesis imperfecta ocular form; OPPG; osteoporosis-pseudoglioma syndrome; ocular form of osteogenesis imperfecta
• Definition: Osteoporosis pseudoglioma syndrome is a very rare autosomal recessive disorder characterized by congenital or infancy-onset blindness and severe juvenile-onset osteoporosis and spontaneous fractures.
• Disease Hierarchy:
  DIS6SVEE: Syndromic disease
  DISCPWH9: Autosomal recessive disease
  DISEOED3: Osteogenesis imperfecta and a reduction of bone mineral density.
  DIST86NS: Congenital vitreoretinal dysplasia
  DISVGTB6: LRP5-related exudative vitreoretinopathy
  DISIXWT1: Osteoporosis-pseudoglioma syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0009820
  MESH ID: C536063
  UMLS CUI: C0432252
  OMIM ID: 259770
  MedGen ID: 98480
  Orphanet ID: 2788
  SNOMED CT ID: 254112001

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 5 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
LRP6	TTSXOWE	Strong	Biomarker	[1]
SOST	TTYRO4F	Strong	Biomarker	[1]
LRP5	TT7VMG4	Definitive	Autosomal recessive	[2]
LRP5	TT7VMG4	Definitive	Genetic Variation	[3]
TCIRG1	TTVRN05	Definitive	Genetic Variation	[4]

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
INPPL1	OTCDAVBQ	Strong	Genetic Variation	[5]
TSPAN12	OTF9I3CX	Strong	Genetic Variation	[6]
LRP5	OTCC4JPH	Definitive	Autosomal recessive	[2]

References

• [1] Application of anti-Sclerostin therapy in non-osteoporosis disease models.Bone. 2017 Mar;96:18-23. doi: 10.1016/j.bone.2016.10.018. Epub 2016 Oct 22.
• [2] LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development. Cell. 2001 Nov 16;107(4):513-23. doi: 10.1016/s0092-8674(01)00571-2.
• [3] Exploiting the WNT Signaling Pathway for Clinical Purposes.Curr Osteoporos Rep. 2017 Jun;15(3):153-161. doi: 10.1007/s11914-017-0357-0.
• [4] Localization of the gene causing autosomal dominant osteopetrosis type I to chromosome 11q12-13.J Bone Miner Res. 2002 Jun;17(6):1111-7. doi: 10.1359/jbmr.2002.17.6.1111.
• [5] Fibroblasts derived from patients with opsismodysplasia display SHIP2-specific cell migration and adhesion defects.Hum Mutat. 2017 Dec;38(12):1731-1739. doi: 10.1002/humu.23321. Epub 2017 Sep 21.
• [6] Simultaneous Novel Mutations of LRP5 and TSPAN12 in a Case of Familial Exudative Vitreoretinopathy.J Pediatr Ophthalmol Strabismus. 2016 Feb 4;53 Online:e1-5. doi: 10.3928/01913913-20151215-01.