OPS
MCID: OST024
MIFTS: 47

Osteoporosis-Pseudoglioma Syndrome (OPS) malady

Neuronal, Eye, Bone, Fetal categories

Summaries for Osteoporosis-Pseudoglioma Syndrome

Sources:
21Genetics Home Reference, 47OMIM, 33MalaCards
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Genetics Home Reference:21 Osteoporosis-pseudoglioma syndrome is a rare condition characterized by severe thinning of the bones (osteoporosis) and eye abnormalities that lead to vision loss. In people with this condition, osteoporosis is usually recognized in early childhood. It is caused by a shortage of minerals, such as calcium, in bones (decreased bone mineral density), which makes the bones brittle and prone to fracture. Affected individuals often have multiple bone fractures, including in the bones that form the spine (vertebrae). Multiple fractures can cause collapse of the affected vertebrae (compressed vertebrae), abnormal side-to-side curvature of the spine (scoliosis), short stature, and limb deformities. Decreased bone mineral density can also cause softening or thinning of the skull (craniotabes).

MalaCards: Osteoporosis-Pseudoglioma Syndrome, also known as osteoporosis pseudoglioma syndrome, is related to blindness and exudative vitreoretinopathy, and has symptoms including anophthalmos/anophthalmia/microphthalmos/microphthalmia, cataract/lens opacification and visual loss/blindness/amblyopia. An important gene associated with Osteoporosis-Pseudoglioma Syndrome is LRP5 (low density lipoprotein receptor-related protein 5), and among its related pathways are N-cadherin signaling events and MicroRNAs in cardiomyocyte hypertrophy. The compound phosphotyrosine have been mentioned in the context of this disorder. Affiliated tissues include heart, and related mouse phenotypes are hearing/vestibular/ear and pigmentation.

Description from OMIM:47 259770

Aliases & Classifications for Osteoporosis-Pseudoglioma Syndrome

Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 45Novoseek, 49Orphanet, 61UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet, 25ICD10
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Neuronal, Eye, Bone


Characteristics (Orphanet epidemiological data):

49
oppg:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Childhood


Aliases & Descriptions:

osteoporosis-pseudoglioma syndrome 43 21 47 45
osteoporosis pseudoglioma syndrome 43 20 22
oppg 43 21 49
ocular form of osteogenesis imperfecta 49
osteogenesis imperfecta, ocular form 21
osteogenesis imperfecta ocular form 43
pseudoglioma with bone fragility 43
osteoporosis with pseudoglioma 61
osteoporosis - pseudoglioma 49
ops 43


External Ids:

OMIM47 259770
MESH via Orphanet36 C536063
ICD10 via Orphanet26 Q87.5
SNOMED-CT via Orphanet58 254112001
UMLS via Orphanet62 C0432252

Related Diseases for Osteoporosis-Pseudoglioma Syndrome

Sources:
17GeneCards, 18GeneDecks
See all sources

Graphical network of the top 20 diseases related to Osteoporosis-Pseudoglioma Syndrome:



Diseases related to osteoporosis-pseudoglioma syndrome

Clinical Features for Osteoporosis-Pseudoglioma Syndrome

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

259770

Clinical synopsis from OMIM:

259770

Symptoms:

49 (show all 21)
  • anophthalmos/anophthalmia/microphthalmos/microphthalmia
  • cataract/lens opacification
  • visual loss/blindness/amblyopia
  • abnormal vertebral size/shape
  • hypotonia
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • mutiple fractures/bone fragility
  • delayed bone age
  • bowed diaphysis/diaphyses/long bones
  • hyperextensible joints/articular hyperlaxity
  • autosomal recessive inheritance
  • pupillary anomalies/mydriasis/myosis/tonic pupil
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • short stature/dwarfism/nanism
  • micrognathia/retrognathia/micrognathism/retrognathism
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • depressed nasal bridge
  • kyphosis
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • low hair line (back)
  • generalized obesity

Drugs & Therapeutics for Osteoporosis-Pseudoglioma Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Osteoporosis-Pseudoglioma Syndrome

Drug clinical trials:

Search ClinicalTrials for Osteoporosis-Pseudoglioma Syndrome

Search NIH Clinical Center for Osteoporosis-Pseudoglioma Syndrome

Search CenterWatch for Osteoporosis-Pseudoglioma Syndrome

Genetic Tests for Osteoporosis-Pseudoglioma Syndrome

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Osteoporosis-Pseudoglioma Syndrome:

id Genetic test Affiliating Genes
1 Osteoporosis Pseudoglioma Syndrome20 LRP5
2 Osteoporosis With Pseudoglioma22

Anatomical Context for Osteoporosis-Pseudoglioma Syndrome

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Osteoporosis-Pseudoglioma Syndrome:

33
Heart

Animal Models for Osteoporosis-Pseudoglioma Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Osteoporosis-Pseudoglioma Syndrome

Sources:
51PubMed
See all sources

Articles related to Osteoporosis-Pseudoglioma Syndrome:

(show all 35)
idTitleAuthorsYear
1
Osteoporosis-pseudoglioma syndrome: three novel mutations in the LRP5 gene and response to bisphosphonate treatment. (22456437)
2012
2
Novel mutations affecting LRP5 splicing in patients with osteoporosis-pseudoglioma syndrome (OPPG). (21407258)
2011
3
Novel LRP5 gene mutation in a patient with osteoporosis-pseudoglioma syndrome. (20096619)
2010
4
Various types of LRP5 mutations in four patients with osteoporosis-pseudoglioma syndrome: identification of a 7.2-kb microdeletion using oligonucleotide tiling microarray. (20034086)
2010
5
A mutation in the signal sequence of LRP5 in a family with an osteoporosis-pseudoglioma syndrome (OPPG)-like phenotype indicates a novel disease mechanism for trinucleotide repeats. (19177549)
2009
6
Three years follow-up of pamidronate therapy in two brothers with osteoporosis-pseudoglioma syndrome (OPPG) carrying an LRP5 mutation. (18825883)
2008
7
Osteoporosis-pseudoglioma syndrome: description of 9 new cases and beneficial response to bisphosphonates. (18602879)
2008
8
Osteoporosis-pseudoglioma syndrome may not be caused by persistent fetal vasculature. (17353427)
2007
9
Familial exudative vitreoretinopathy and osteoporosis-pseudoglioma syndrome caused by a mutation in the LRP5 gene. (17353424)
2007
10
A novel mutation in the LRP5 gene is associated with osteoporosis- pseudoglioma syndrome. (17437160)
2007
11
Asymmetrical ocular involvement and persistent fetal vasculature in an adult with osteoporosis-pseudoglioma syndrome. (16534066)
2006
12
A family with osteoporosis pseudoglioma syndrome due to compound heterozygosity of two novel mutations in the LRP5 gene. (16679074)
2006
13
Effects of 3 years of intravenous pamidronate treatment on bone markers and bone mineral density in a patient with osteoporosis-pseudoglioma syndrome (OPPG). (16607930)
2006
14
Motor function improvement after intravenous pamidronate in osteoporosis pseudoglioma syndrome. (17095368)
2006
15
Clinical and molecular findings in osteoporosis-pseudoglioma syndrome. (16252235)
2005
16
LRP5 mutations in osteoporosis-pseudoglioma syndrome and high-bone-mass disorders. (15850991)
2005
17
Congenital blindness and osteoporosis-pseudoglioma syndrome. (12690376)
2003
18
Failure of operative treatment in a child with osteoporosis-pseudoglioma syndrome. (12771838)
2003
19
Decreased bone density in carriers and patients of an Israeli family with the osteoporosis-pseudoglioma syndrome. (12841014)
2003
20
Bilateral retinal detachments at birth: the osteoporosis pseudoglioma syndrome. (11561553)
2001
21
Osteoporosis pseudoglioma syndrome: treatment of spinal osteoporosis with intravenous bisphosphonates. (10969269)
2000
22
Osteoporosis pseudoglioma syndrome. (10713847)
1999
23
Persistent hyperplastic primary vitreous in a family with osteoporosis-pseudoglioma syndrome. (9134299)
1997
24
Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13. (8659519)
1996
25
Osteoporosis-pseudoglioma syndrome. (8418655)
1993
26
The osteoporosis pseudoglioma syndrome. (8294375)
1993
27
Multiple fractures in a child: the osteoporosis pseudoglioma syndrome. A case report. (1400555)
1992
28
Case report 613: Osteoporosis pseudoglioma syndrome. (2353218)
1990
29
The osteoporosis pseudoglioma syndrome. Update and report on two affected siblings. (3174281)
1988
30
Osteoporosis-pseudoglioma syndrome: clinical, morphological, and biochemical studies. (3172149)
1988
31
Osteoporosis-pseudoglioma syndrome with congenital heart disease: a new association. (3351889)
1988
32
Osteogenesis imperfecta or osteoporosis-pseudoglioma syndrome. (3802564)
1986
33
Osteoporosis-pseudoglioma syndrome and the ocular form of osteogenesis imperfecta. (3698335)
1986
34
Osteoporosis-pseudoglioma syndrome. (3698336)
1986
35
Osteoporosis-pseudoglioma syndrome: report of three affected sibs and an overview. (3931475)
1985

Genetic Variations for Osteoporosis-Pseudoglioma Syndrome

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Osteoporosis-Pseudoglioma Syndrome:

63 (show all 24)
id Symbol AA change Variation SNP ID
1LRP5p.Arg494GlnVAR_021814
2LRP5p.Arg570TrpVAR_021815
3LRP5p.Asp203AsnVAR_063945
4LRP5p.Thr244MetVAR_063946
5LRP5p.Ser307PheVAR_063947
6LRP5p.Arg348TrpVAR_063948
7LRP5p.Arg353GlnVAR_063949
8LRP5p.Ser356LeuVAR_063950
9LRP5p.Thr390LysVAR_063951
10LRP5p.Ala400GluVAR_063952
11LRP5p.Gly404ArgVAR_063953
12LRP5p.Thr409AlaVAR_063954
13LRP5p.Asp434AsnVAR_063955
14LRP5p.Glu460LysVAR_063959
15LRP5p.Trp478ArgVAR_063960
16LRP5p.Trp504CysVAR_063961
17LRP5p.Gly520ValVAR_063963
18LRP5p.Asn531IleVAR_063965
19LRP5p.Gly610ArgVAR_063968
20LRP5p.Asp683AsnVAR_063970
21LRP5p.Tyr733HisVAR_063971
22LRP5p.Asp1099TyrVAR_063975
23LRP5p.Arg1113CysVAR_063976
24LRP5p.Gly1401AspVAR_063979

Expression for genes affiliated with Osteoporosis-Pseudoglioma Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Osteoporosis-Pseudoglioma Syndrome

Search GEO for disease gene expression data for Osteoporosis-Pseudoglioma Syndrome.

Pathways for genes affiliated with Osteoporosis-Pseudoglioma Syndrome

Sources:
38NCBI BioSystems Database, 52QIAGEN, 56SinoBiological, 12EMD Millipore, 54Reactome, 30KEGG, 53R&D Systems
See all sources

Compounds for genes affiliated with Osteoporosis-Pseudoglioma Syndrome

Sources:
45Novoseek
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Compounds related to Osteoporosis-Pseudoglioma Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1phosphotyrosine458.6LRP8, FZD4, CTNNB1

GO Terms for genes affiliated with Osteoporosis-Pseudoglioma Syndrome

Sources:
16Gene Ontology
See all sources

Cellular components related to Osteoporosis-Pseudoglioma Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cell-cell junctionGO:0059119.2FZD4, CTNNB1

Biological processes related to Osteoporosis-Pseudoglioma Syndrome according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1retinal blood vessel morphogenesisGO:0613049.8LRP5, FZD4
2extracellular matrix-cell signalingGO:0354269.8FZD4, NDP
3retina vasculature morphogenesis in camera-type eyeGO:0612999.8FZD4, NDP
4regulation of canonical Wnt receptor signaling pathwayGO:0608289.7LRP5, KREMEN1
5positive regulation of sequence-specific DNA binding transcription factor activityGO:0510919.6NDP, FZD4
6gastrulation with mouth forming secondGO:0017029.3LRP5, CTNNB1
7positive regulation of mesenchymal cell proliferationGO:0020539.2LRP5, CTNNB1
8embryonic limb morphogenesisGO:0303269.0LRP5, CTNNB1
9canonical Wnt receptor signaling pathwayGO:0600708.6FZD4, CTNNB1, NDP, LRP5
10positive regulation of transcription, DNA-dependentGO:0458938.5NDP, CTNNB1, FZD4, LRP5
11Wnt receptor signaling pathwayGO:0160558.1NDP, KREMEN1, LRP5, FZD4, CTNNB1

Molecular functions related to Osteoporosis-Pseudoglioma Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1Wnt-protein bindingGO:0171479.6LRP5, FZD4
2Wnt-activated receptor activityGO:0428139.3LRP5, FZD4

Products for genes affiliated with Osteoporosis-Pseudoglioma Syndrome

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Osteoporosis-Pseudoglioma Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet