OPS
MCID: OST024
MIFTS: 58

Osteoporosis-Pseudoglioma Syndrome (OPS) malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Bone diseases, Fetal diseases categories
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Summaries for Osteoporosis-Pseudoglioma Syndrome

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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 based summary: 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 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:46 259770

Aliases & Classifications for Osteoporosis-Pseudoglioma Syndrome

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 44Novoseek, 48Orphanet, 62UMLS, 26ICD10 via Orphanet, 63UMLS via Orphanet, 35MESH via Orphanet, 25ICD10
See all sources

Osteoporosis-Pseudoglioma Syndrome, Aliases & Descriptions:

Name: Osteoporosis-Pseudoglioma Syndrome 42 21 46 44 62
Osteoporosis Pseudoglioma Syndrome 42 20 22
Oppg 42 21 48
Pseudoglioma with Bone Fragility 42 62
Ocular Form of Osteogenesis Imperfecta 48
 
Osteogenesis Imperfecta, Ocular Form 21
Osteogenesis Imperfecta Ocular Form 42
Osteoporosis with Pseudoglioma 62
Osteoporosis - Pseudoglioma 48
Ops 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
oppg:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Childhood


External Ids:

ICD10 via Orphanet26 Q87.5
UMLS via Orphanet63 C0432252
OMIM46 259770
MESH via Orphanet35 C536063

Related Diseases for Osteoporosis-Pseudoglioma Syndrome

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Diseases related to Osteoporosis-Pseudoglioma Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 13)
idRelated DiseaseScoreTop Affiliating Genes
1blindness30.5LRP5, NDP
2exudative vitreoretinopathy30.3NDP, LRP5, FZD4
3retinal detachment30.3NDP, FZD4
4osteoporosis11.0
5osteogenesis imperfecta10.4
6coats disease10.3NDP
7congenital heart disease10.3
8retinitis10.3
9persistent hyperplastic primary vitreous10.3
10norrie disease10.1LRP5, NDP
11sost-related sclerosing bone dysplasia10.1KREMEN1
12familial exudative vitreoretinopathy, autosomal dominant10.1FZD4, LRP5
13retinopathy of prematurity10.0FZD4, NDP

Graphical network of diseases related to Osteoporosis-Pseudoglioma Syndrome:



Diseases related to osteoporosis-pseudoglioma syndrome

Symptoms for Osteoporosis-Pseudoglioma Syndrome

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Symptoms by clinical synopsis from OMIM:

259770

Clinical features from OMIM:

259770

Symptoms:

48 (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

HPO human phenotypes related to Osteoporosis-Pseudoglioma Syndrome:

(show all 41)
id Description Frequency HPO Source Accession
1 visual impairment hallmark (90%) HP:0000505
2 cataract hallmark (90%) HP:0000518
3 muscular hypotonia hallmark (90%) HP:0001252
4 joint hypermobility hallmark (90%) HP:0001382
5 delayed skeletal maturation hallmark (90%) HP:0002750
6 recurrent fractures hallmark (90%) HP:0002757
7 abnormal form of the vertebral bodies hallmark (90%) HP:0003312
8 reduced bone mineral density hallmark (90%) HP:0004349
9 bowing of the long bones hallmark (90%) HP:0006487
10 aplasia/hypoplasia affecting the eye hallmark (90%) HP:0008056
11 abnormality of the pupil typical (50%) HP:0000615
12 short stature typical (50%) HP:0004322
13 cognitive impairment typical (50%) HP:0100543
14 micrognathia occasional (7.5%) HP:0000347
15 optic atrophy occasional (7.5%) HP:0000648
16 obesity occasional (7.5%) HP:0001513
17 low posterior hairline occasional (7.5%) HP:0002162
18 kyphosis occasional (7.5%) HP:0002808
19 depressed nasal bridge occasional (7.5%) HP:0005280
20 abnormal hair quantity occasional (7.5%) HP:0011362
21 autosomal recessive inheritance HP:0000007
22 microcephaly HP:0000252
23 cataract HP:0000518
24 microphthalmos HP:0000568
25 blindness HP:0000618
26 phthisis bulbi HP:0000667
27 platyspondyly HP:0000926
28 osteoporosis HP:0000939
29 iris atrophy HP:0001089
30 muscular hypotonia HP:0001252
31 intellectual disability, mild HP:0001256
32 joint hypermobility HP:0001382
33 barrel-shaped chest HP:0001552
34 ventricular septal defect HP:0001629
35 increased susceptibility to fractures HP:0002659
36 kyphoscoliosis HP:0002751
37 pathologic fracture HP:0002756
38 metaphyseal widening HP:0003016
39 short stature HP:0004322
40 vitreoretinal abnormalities HP:0007773
41 absent anterior eye chamber HP:0008037

Drugs & Therapeutics for Osteoporosis-Pseudoglioma Syndrome

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Drug clinical trials:

Search ClinicalTrials for Osteoporosis-Pseudoglioma Syndrome

Search NIH Clinical Center for Osteoporosis-Pseudoglioma Syndrome

Genetic Tests for Osteoporosis-Pseudoglioma Syndrome

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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

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MalaCards organs/tissues related to Osteoporosis-Pseudoglioma Syndrome:

32
Bone, Eye, Heart

Animal Models for Osteoporosis-Pseudoglioma Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Osteoporosis-Pseudoglioma Syndrome:

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

Publications for Osteoporosis-Pseudoglioma Syndrome

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Articles related to Osteoporosis-Pseudoglioma Syndrome:

(show all 36)
idTitleAuthorsYear
1
Atypical Femoral Fracture in Osteoporosis Pseudoglioma Syndrome Associated With Two Novel Compound Heterozygous Mutations in LRP5. (25384351)
2014
2
Osteoporosis-pseudoglioma syndrome: three novel mutations in the LRP5 gene and response to bisphosphonate treatment. (22456437)
2012
3
Novel mutations affecting LRP5 splicing in patients with osteoporosis-pseudoglioma syndrome (OPPG). (21407258)
2011
4
Novel LRP5 gene mutation in a patient with osteoporosis-pseudoglioma syndrome. (20096619)
2010
5
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
6
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
7
Three years follow-up of pamidronate therapy in two brothers with osteoporosis-pseudoglioma syndrome (OPPG) carrying an LRP5 mutation. (18825883)
2008
8
Osteoporosis-pseudoglioma syndrome: description of 9 new cases and beneficial response to bisphosphonates. (18602879)
2008
9
Osteoporosis-pseudoglioma syndrome may not be caused by persistent fetal vasculature. (17353427)
2007
10
Familial exudative vitreoretinopathy and osteoporosis-pseudoglioma syndrome caused by a mutation in the LRP5 gene. (17353424)
2007
11
A novel mutation in the LRP5 gene is associated with osteoporosis- pseudoglioma syndrome. (17437160)
2007
12
Asymmetrical ocular involvement and persistent fetal vasculature in an adult with osteoporosis-pseudoglioma syndrome. (16534066)
2006
13
A family with osteoporosis pseudoglioma syndrome due to compound heterozygosity of two novel mutations in the LRP5 gene. (16679074)
2006
14
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
15
Motor function improvement after intravenous pamidronate in osteoporosis pseudoglioma syndrome. (17095368)
2006
16
Clinical and molecular findings in osteoporosis-pseudoglioma syndrome. (16252235)
2005
17
LRP5 mutations in osteoporosis-pseudoglioma syndrome and high-bone-mass disorders. (15850991)
2005
18
Congenital blindness and osteoporosis-pseudoglioma syndrome. (12690376)
2003
19
Failure of operative treatment in a child with osteoporosis-pseudoglioma syndrome. (12771838)
2003
20
Decreased bone density in carriers and patients of an Israeli family with the osteoporosis-pseudoglioma syndrome. (12841014)
2003
21
Bilateral retinal detachments at birth: the osteoporosis pseudoglioma syndrome. (11561553)
2001
22
Osteoporosis pseudoglioma syndrome: treatment of spinal osteoporosis with intravenous bisphosphonates. (10969269)
2000
23
Osteoporosis pseudoglioma syndrome. (10713847)
1999
24
Persistent hyperplastic primary vitreous in a family with osteoporosis-pseudoglioma syndrome. (9134299)
1997
25
Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13. (8659519)
1996
26
Osteoporosis-pseudoglioma syndrome. (8418655)
1993
27
The osteoporosis pseudoglioma syndrome. (8294375)
1993
28
Multiple fractures in a child: the osteoporosis pseudoglioma syndrome. A case report. (1400555)
1992
29
Case report 613: Osteoporosis pseudoglioma syndrome. (2353218)
1990
30
The osteoporosis pseudoglioma syndrome. Update and report on two affected siblings. (3174281)
1988
31
Osteoporosis-pseudoglioma syndrome: clinical, morphological, and biochemical studies. (3172149)
1988
32
Osteoporosis-pseudoglioma syndrome with congenital heart disease: a new association. (3351889)
1988
33
Osteogenesis imperfecta or osteoporosis-pseudoglioma syndrome. (3802564)
1986
34
Osteoporosis-pseudoglioma syndrome and the ocular form of osteogenesis imperfecta. (3698335)
1986
35
Osteoporosis-pseudoglioma syndrome. (3698336)
1986
36
Osteoporosis-pseudoglioma syndrome: report of three affected sibs and an overview. (3931475)
1985

Variations for Osteoporosis-Pseudoglioma Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Osteoporosis-Pseudoglioma Syndrome:

64 (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:

6 (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 variantPathogenicrs4988321GRCh37Chr 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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Expression patterns in normal tissues for genes affiliated with Osteoporosis-Pseudoglioma Syndrome

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Pathways for genes affiliated with Osteoporosis-Pseudoglioma Syndrome

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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
39.2LRP5, CTNNB1
49.1CTNNB1, FZD4
5
Show member pathways
9.1CTNNB1, FZD4
69.1FZD4, CTNNB1
7
Show member pathways
9.1FZD4, CTNNB1
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 Receptor60
9.1FZD4, CTNNB1
129.1FZD4, CTNNB1
139.0LRP5, FZD4, KREMEN1
14
Show member pathways
8.7LRP5, FZD4, CTNNB1
158.7LRP5, FZD4, CTNNB1
16
Show member pathways
DNA damage response (only ATM dependent)37
Wnt Signaling Pathway and Pluripotency37
8.7LRP5, CTNNB1, FZD4
17
Show member pathways
Wnt Signaling Pathway NetPath37
8.7CTNNB1, FZD4, LRP5
188.2LRP5, CTNNB1, KREMEN1, FZD4
198.1CTNNB1, FZD4, LRP5, LRP8

Compounds for genes affiliated with Osteoporosis-Pseudoglioma Syndrome

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Sources:
44Novoseek, 24HMDB, 11DrugBank
See all sources

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

idCompoundScoreTop Affiliating Genes
1guanine44 24 1111.1CTNNB1, FZD4
2phosphotyrosine448.4CTNNB1, FZD4, LRP8
3arginine448.4CTNNB1, NDP, FZD4

GO Terms for genes affiliated with Osteoporosis-Pseudoglioma Syndrome

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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:0612999.7FZD4, NDP
4endocytosisGO:0068979.4LRP8, LRP5
5gastrulation with mouth forming secondGO:0017029.4CTNNB1, LRP5
6extracellular matrix-cell signalingGO:0354269.4LRP5, NDP, FZD4
7positive regulation of mesenchymal cell proliferationGO:0020539.4CTNNB1, LRP5
8positive regulation of sequence-specific DNA binding transcription factor activityGO:0510919.3FZD4, LRP5, NDP
9embryonic limb morphogenesisGO:0303269.2LRP5, CTNNB1
10layer formation in cerebral cortexGO:0218199.2LRP8, CTNNB1
11sensory perception of soundGO:0076059.2NDP, FZD4
12embryonic digit morphogenesisGO:0427339.1CTNNB1, LRP5
13cellular response to growth factor stimulusGO:0713639.1LRP8, CTNNB1
14canonical Wnt signaling pathwayGO:0600708.5CTNNB1, FZD4, LRP5, NDP
15positive regulation of transcription, DNA-templatedGO:0458938.5LRP5, FZD4, NDP, CTNNB1
16Wnt signaling pathwayGO:0160558.0KREMEN1, LRP5, FZD4, NDP, CTNNB1

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

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

Products for genes affiliated with Osteoporosis-Pseudoglioma Syndrome

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  • Antibodies
  • Proteins
  • Lysates

Sources for Osteoporosis-Pseudoglioma Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet