OPS
MCID: OST024
MIFTS: 57

Osteoporosis-Pseudoglioma Syndrome (OPS) malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Bone diseases, Fetal diseases categories

Summaries for Osteoporosis-Pseudoglioma Syndrome

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22Genetics Home Reference, 48OMIM, 34MalaCards
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Genetics Home Reference:22 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 short stature/dwarfism/nanism, micrognathia/retrognathia/micrognathism/retrognathism and optic nerve anomaly/optic atrophy/anomaly of the papilla. An important gene associated with Osteoporosis-Pseudoglioma Syndrome is LRP5 (low density lipoprotein receptor-related protein 5), and among its related pathways are MicroRNAs in cardiomyocyte hypertrophy and N-cadherin signaling events. The compounds guanine and phosphotyrosine have been mentioned in the context of this disorder. Affiliated tissues include bone, eye and heart, and related mouse phenotypes are hearing/vestibular/ear and pigmentation.

Description from OMIM:48 259770

Aliases & Classifications for Osteoporosis-Pseudoglioma Syndrome

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44NIH Rare Diseases, 22Genetics Home Reference, 48OMIM, 46Novoseek, 50Orphanet, 21GeneTests, 23GTR, 63UMLS, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet, 26ICD10
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Classifications:



Characteristics (Orphanet epidemiological data):

50
oppg:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Childhood


Aliases & Descriptions:

osteoporosis-pseudoglioma syndrome 44 22 48 46
osteoporosis pseudoglioma syndrome 44 21 23
oppg 44 22 50
ocular form of osteogenesis imperfecta 50
osteogenesis imperfecta, ocular form 22
osteogenesis imperfecta ocular form 44
pseudoglioma with bone fragility 44
osteoporosis with pseudoglioma 63
osteoporosis - pseudoglioma 50
ops 44


External Ids:

OMIM48 259770
MESH via Orphanet37 C536063
ICD10 via Orphanet27 Q87.5
SNOMED-CT via Orphanet60 254112001
UMLS via Orphanet64 C0432252

Related Diseases for Osteoporosis-Pseudoglioma Syndrome

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18GeneCards, 19GeneDecks
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Graphical network of diseases related to Osteoporosis-Pseudoglioma Syndrome:



Diseases related to osteoporosis-pseudoglioma syndrome

Symptoms for Osteoporosis-Pseudoglioma Syndrome

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

259770

Clinical features from OMIM:

259770

Symptoms:

50 (show all 21)
  • 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
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • pupillary anomalies/mydriasis/myosis/tonic pupil
  • 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
  • anophthalmos/anophthalmia/microphthalmos/microphthalmia

Drugs & Therapeutics for Osteoporosis-Pseudoglioma Syndrome

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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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

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21GeneTests, 23GTR
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Genetic tests related to Osteoporosis-Pseudoglioma Syndrome:

id Genetic test Affiliating Genes
1 Osteoporosis Pseudoglioma Syndrome21 LRP5
2 Osteoporosis with Pseudoglioma23

Anatomical Context for Osteoporosis-Pseudoglioma Syndrome

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34MalaCards
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MalaCards organs/tissues related to Osteoporosis-Pseudoglioma Syndrome:

34
Bone, Eye, Heart

Animal Models for Osteoporosis-Pseudoglioma Syndrome or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Osteoporosis-Pseudoglioma Syndrome:

38 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.7FZD4, NDP, CTNNB1
2MP:00011868.5CTNNB1, NDP, FZD4, LRP5
3MP:00053718.4LRP5, KREMEN1, CTNNB1
4MP:00053918.4LRP5, FZD4, NDP, CTNNB1
5MP:00053908.3CTNNB1, NDP, KREMEN1, LRP5
6MP:00053858.2CTNNB1, NDP, FZD4, LRP5
7MP:00053848.1CTNNB1, FZD4, LRP5, LRP8
8MP:00053867.8CTNNB1, NDP, FZD4, LRP5, LRP8
9MP:00028737.8LRP8, LRP5, FZD4, KREMEN1, CTNNB1
10MP:00036317.8LRP8, LRP5, FZD4, NDP, CTNNB1
11MP:00053897.7LRP8, FZD4, KREMEN1, NDP, CTNNB1

Publications for Osteoporosis-Pseudoglioma Syndrome

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53PubMed
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Articles related to Osteoporosis-Pseudoglioma Syndrome:

(show all 34)
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
The osteoporosis pseudoglioma syndrome. Update and report on two affected siblings. (3174281)
1988
29
Osteoporosis-pseudoglioma syndrome: clinical, morphological, and biochemical studies. (3172149)
1988
30
Osteoporosis-pseudoglioma syndrome with congenital heart disease: a new association. (3351889)
1988
31
Osteogenesis imperfecta or osteoporosis-pseudoglioma syndrome. (3802564)
1986
32
Osteoporosis-pseudoglioma syndrome and the ocular form of osteogenesis imperfecta. (3698335)
1986
33
Osteoporosis-pseudoglioma syndrome. (3698336)
1986
34
Osteoporosis-pseudoglioma syndrome: report of three affected sibs and an overview. (3931475)
1985

Variations for Osteoporosis-Pseudoglioma Syndrome

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Osteoporosis-Pseudoglioma Syndrome:

65 (show all 24)
id Symbol AA change Variation ID 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

Clinvar genetic disease variations for Osteoporosis-Pseudoglioma Syndrome:

1 (show all 19)
id Gene Name Type Significance SNP ID Assembly Location
1LRP5NM_002335.3(LRP5): c.1655C> T (p.Thr552Met)single nucleotide variantPathogenicrs397514663GRCh37Chr 11, 68171021: 68171021
2LRP5NM_002335.3(LRP5): c.1145C> T (p.Pro382Leu)single nucleotide variantPathogenicrs397514664GRCh37Chr 11, 68153913: 68153913
3LRP5NM_002335.3(LRP5): c.731C> T (p.Thr244Met)single nucleotide variantPathogenicrs397514665GRCh37Chr 11, 68131259: 68131259
4LRP5NM_002335.3(LRP5): c.4600C> T (p.Arg1534Ter)single nucleotide variantPathogenicrs149645175GRCh37Chr 11, 68216290: 68216290
5LRP5LRP5, IVS7, G-A, +1single nucleotide variantPathogenic
6LRP5LRP5, 7.2-KB DEL, EXONS 22-23deletionPathogenic
7LRP5NM_002335.3(LRP5): c.29G> A (p.Trp10Ter)single nucleotide variantPathogenicrs121908660GRCh37Chr 11, 68080211: 68080211
8LRP5NM_002335.3(LRP5): c.1282C> T (p.Arg428Ter)single nucleotide variantPathogenicrs121908661GRCh37Chr 11, 68154050: 68154050
9LRP5LRP5, 1-BP DEL, 1467GdeletionPathogenic
10LRP5NM_002335.3(LRP5): c.2151dupT (p.Asp718Terfs)duplicationPathogenicrs121908662GRCh37Chr 11, 68177441: 68177442
11LRP5NM_002335.3(LRP5): c.2557C> T (p.Gln853Ter)single nucleotide variantPathogenicrs121908663GRCh37Chr 11, 68181210: 68181210
12LRP5LRP5, 1-BP DEL, 3804AdeletionPathogenic
13LRP5NM_002335.3(LRP5): c.1481G> A (p.Arg494Gln)single nucleotide variantPathogenicrs121908664GRCh37Chr 11, 68157417: 68157417
14LRP5NM_002335.3(LRP5): c.1708C> T (p.Arg570Trp)single nucleotide variantPathogenicrs121908665GRCh37Chr 11, 68171074: 68171074
15LRP5NM_002335.3(LRP5): c.1999G> A (p.Val667Met)single nucleotide variantLikely benign, Pathogenicrs4988321GRCh37Chr 11, 68174189: 68174189
16LRP5NM_002335.3(LRP5): c.1453G> T (p.Glu485Ter)single nucleotide variantPathogenicrs121908666GRCh37Chr 11, 68157389: 68157389
17LRP5NM_002335.3(LRP5): c.2202G> A (p.Trp734Ter)single nucleotide variantPathogenicrs121908667GRCh37Chr 11, 68177492: 68177492
18LRP5LRP5, 1-BP DEL, 2305GdeletionPathogenic
19LRP5NM_002335.3(LRP5): c.433C> T (p.Leu145Phe)single nucleotide variantPathogenicrs80358305GRCh37Chr 11, 68115656: 68115656

Expression for genes affiliated with Osteoporosis-Pseudoglioma Syndrome

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2BioGPS, 16Gene Expression Omnibus DataSets
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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

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Sources:
51PathCards, 39NCBI BioSystems Database, 5Cell Signaling Technology, 54QIAGEN, 31KEGG, 56Reactome, 58SinoBiological, 61Thomson Reuters, 55R&D Systems
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Pathways related to Osteoporosis-Pseudoglioma Syndrome according to GeneCards/GeneDecks:

(show all 19)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.2LRP5, CTNNB1
29.2CTNNB1, LRP5
39.2CTNNB1, LRP5
49.1CTNNB1, FZD4
5
Show member pathways
9.1FZD4, CTNNB1
69.1CTNNB1, FZD4
7
Show member pathways
9.1CTNNB1, FZD4
8
Show member pathways
9.1FZD4, CTNNB1
99.1CTNNB1, FZD4
10
Show member pathways
9.1CTNNB1, FZD4
11
Show member pathways
Translation Non genomic rapid action of Androgen Receptor61
9.1CTNNB1, FZD4
129.1FZD4, CTNNB1
139.0LRP5, FZD4, KREMEN1
148.7LRP5, FZD4, CTNNB1
15
Show member pathways
Wnt Signaling Pathway NetPath39
8.7LRP5, FZD4, CTNNB1
16
Show member pathways
8.7CTNNB1, FZD4, LRP5
17
Show member pathways
DNA damage response (only ATM dependent)39
Wnt Signaling Pathway and Pluripotency39
8.7CTNNB1, FZD4, LRP5
188.2CTNNB1, KREMEN1, FZD4, LRP5
198.1CTNNB1, FZD4, LRP5, LRP8

Compounds for genes affiliated with Osteoporosis-Pseudoglioma Syndrome

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46Novoseek, 25HMDB, 12DrugBank
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Compounds related to Osteoporosis-Pseudoglioma Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1guanine46 25 1211.1CTNNB1, FZD4
2phosphotyrosine468.4CTNNB1, FZD4, LRP8
3arginine468.4CTNNB1, NDP, FZD4

GO Terms for genes affiliated with Osteoporosis-Pseudoglioma Syndrome

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17Gene Ontology
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Cellular components related to Osteoporosis-Pseudoglioma Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1receptor complexGO:0432359.4LRP5, LRP8
2cell-cell junctionGO:0059118.8CTNNB1, FZD4

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

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1retinal blood vessel morphogenesisGO:0613049.8FZD4, LRP5
2regulation of canonical Wnt signaling pathwayGO:0608289.7LRP5, KREMEN1
3retina vasculature morphogenesis in camera-type eyeGO:0612999.7NDP, FZD4
4endocytosisGO:0068979.4LRP5, LRP8
5gastrulation with mouth forming secondGO:0017029.4CTNNB1, LRP5
6extracellular matrix-cell signalingGO:0354269.4LRP5, FZD4, NDP
7positive regulation of mesenchymal cell proliferationGO:0020539.4LRP5, CTNNB1
8positive regulation of sequence-specific DNA binding transcription factor activityGO:0510919.3NDP, FZD4, LRP5
9embryonic limb morphogenesisGO:0303269.2CTNNB1, LRP5
10layer formation in cerebral cortexGO:0218199.2CTNNB1, LRP8
11sensory perception of soundGO:0076059.2NDP, FZD4
12embryonic digit morphogenesisGO:0427339.1LRP5, CTNNB1
13cellular response to growth factor stimulusGO:0713639.1CTNNB1, LRP8
14canonical Wnt signaling pathwayGO:0600708.5LRP5, FZD4, NDP, CTNNB1
15positive regulation of transcription, DNA-templatedGO:0458938.5LRP5, FZD4, NDP, CTNNB1
16Wnt signaling pathwayGO:0160558.0CTNNB1, NDP, KREMEN1, FZD4, LRP5

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

idNameGO IDScoreTop Affiliating Genes
1Wnt-activated receptor activityGO:0428139.4FZD4, LRP5
2Wnt-protein bindingGO:0171479.2FZD4, LRP5
3protein bindingGO:0055157.1LRP5, FZD4, KREMEN1, NDP, CTNNB1, LRP8

Products for genes affiliated with Osteoporosis-Pseudoglioma Syndrome

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Sources for Osteoporosis-Pseudoglioma Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet