OPPG
MCID: OST024
MIFTS: 54

Osteoporosis-Pseudoglioma Syndrome (OPPG) malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Osteoporosis-Pseudoglioma Syndrome

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Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 24GeneTests, 25Genetics Home Reference, 27GTR, 30ICD10, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Osteoporosis-Pseudoglioma Syndrome:

Name: Osteoporosis-Pseudoglioma Syndrome 52 11 48 25 54 70 12 50 39 13
Oppg 11 48 25 54 70
Osteoporosis Pseudoglioma Syndrome 48 24 27
Ocular Form of Osteogenesis Imperfecta 11 54
Osteogenesis Imperfecta, Ocular Form 24 25
 
Osteogenesis Imperfecta Ocular Form 48 70
Ops 48 70
Pseudoglioma with Bone Fragility 48
Osteoporosis with Pseudoglioma 68

Characteristics:

Orphanet epidemiological data:

54
osteoporosis-pseudoglioma syndrome:
Inheritance: Autosomal recessive; Age of onset: Childhood

HPO:

64
osteoporosis-pseudoglioma syndrome:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 259770
Disease Ontology11 DOID:0060849
Orphanet54 ORPHA2788
MESH via Orphanet40 C536063
UMLS via Orphanet69 C0432252
ICD10 via Orphanet31 Q87.5
MedGen37 C0432252

Summaries for Osteoporosis-Pseudoglioma Syndrome

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Genetics Home Reference:25 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 OPPG, is related to osteoporosis and osteogenesis imperfecta, and has symptoms including microcephaly, cataract and microphthalmia. An important gene associated with Osteoporosis-Pseudoglioma Syndrome is LRP5 (LDL Receptor Related Protein 5), and among its related pathways are Wnt Signaling Pathway Netpath and Primary Focal Segmental Glomerulosclerosis FSGS. Affiliated tissues include bone, eye and heart, and related mouse phenotypes are no phenotypic analysis and normal.

Disease Ontology:11 An autosomal recessive disease characterized by congenital or infancy-onset blindness, very low bone mass, decreased trabecular bone volume, severe juvenile-onset osteoporosis and spontaneous fractures, pseudoglioma, microphthalmia that has material basis in homozygous or compound heterozygous mutation in the LRP5 gene on chromosome 11q13.

UniProtKB/Swiss-Prot:70 Osteoporosis-pseudoglioma syndrome: A disease characterized by congenital or infancy-onset blindness and severe juvenile-onset osteoporosis and spontaneous fractures. Additional clinical manifestations may include microphthalmos, abnormalities of the iris, lens or vitreous, cataracts, short stature, microcephaly, ligamental laxity, mental retardation and hypotonia.

Description from OMIM:52 259770

Related Diseases for Osteoporosis-Pseudoglioma Syndrome

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



Diseases related to osteoporosis-pseudoglioma syndrome

Symptoms & Phenotypes for Osteoporosis-Pseudoglioma Syndrome

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Symptoms by clinical synopsis from OMIM:

259770

Clinical features from OMIM:

259770

Human phenotypes related to Osteoporosis-Pseudoglioma Syndrome:

 64 (show all 21)
id Description HPO Frequency HPO Source Accession
1 microcephaly64 HP:0000252
2 cataract64 HP:0000518
3 microphthalmia64 HP:0000568
4 blindness64 HP:0000618
5 phthisis bulbi64 HP:0000667
6 platyspondyly64 HP:0000926
7 osteoporosis64 HP:0000939
8 iris atrophy64 HP:0001089
9 muscular hypotonia64 HP:0001252
10 intellectual disability, mild64 HP:0001256
11 joint hypermobility64 HP:0001382
12 barrel-shaped chest64 HP:0001552
13 ventricular septal defect64 HP:0001629
14 increased susceptibility to fractures64 HP:0002659
15 kyphoscoliosis64 HP:0002751
16 pathologic fracture64 HP:0002756
17 metaphyseal widening64 HP:0003016
18 short stature64 HP:0004322
19 vitreoretinopathy64 HP:0007773
20 absent anterior eye chamber64 HP:0008037
21 glioma64 HP:0009733

MGI Mouse Phenotypes related to Osteoporosis-Pseudoglioma Syndrome according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030128.8CTNNB1, FZD4, LDLR, NDP
2MP:00028738.5CTNNB1, FZD4, LDLR, LRP5, LRP8
3MP:00053858.4CTNNB1, FZD4, LDLR, LRP5, NDP
4MP:00011868.3CTNNB1, FZD4, LDLR, LRP5, NDP
5MP:00053868.0CTNNB1, FZD4, LDLR, LRP5, LRP8, NDP
6MP:00036317.9CTNNB1, FZD4, LDLR, LRP5, LRP8, NDP
7MP:00053917.6CTNNB1, FZD4, LDLR, LRP5, NDP

Drugs & Therapeutics for Osteoporosis-Pseudoglioma Syndrome

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Drugs for Osteoporosis-Pseudoglioma Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 8)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Tranquilizing Agents4265
2Lithium carbonate240554-13-2
3Antidepressive Agents2736
4Central Nervous System Depressants13403
5Antimanic Agents814
6Psychotropic Drugs6430
7CitrateNutraceutical1160
8
Citric Acidnutraceutical, vet_approved116077-92-9311
Synonyms:
2-Hydroxy-1,2,3-propanetricarboxylate
2-Hydroxy-1,2,3-propanetricarboxylic acid
2-Hydroxytricarballylic acid
3-Carboxy-3-hydroxypentane-1,5-dioate
3-Carboxy-3-hydroxypentane-1,5-dioic acid
Aciletten
Anhydrous citrate
Anhydrous citric acid
Chemfill
Citraclean
 
Citrate
Citretten
Citric acid
Citro
Citronensäure
E 330
Hydrocerol A
Kyselina citronova
Suby G
Uro-trainer
beta-Hydroxytricarballylate
beta-Hydroxytricarballylic acid

Interventional clinical trials:

idNameStatusNCT IDPhase
1Trial of Lithium Carbonate for Treatment of Osteoporosis-pseudoglioma SyndromeCompletedNCT01108068
2Growth Hormone for Osteoporosis Pseudoglioma SyndromeWithdrawnNCT01614171

Search NIH Clinical Center for Osteoporosis-Pseudoglioma Syndrome


Cochrane evidence based reviews: 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 with Pseudoglioma27
2 Osteoporosis Pseudoglioma Syndrome24 LRP5

Anatomical Context for Osteoporosis-Pseudoglioma Syndrome

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MalaCards organs/tissues related to Osteoporosis-Pseudoglioma Syndrome:

36
Bone, Eye, Heart

Publications for Osteoporosis-Pseudoglioma Syndrome

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Articles related to Osteoporosis-Pseudoglioma Syndrome:

(show all 40)
idTitleAuthorsYear
1
LRP5-linked osteoporosis-pseudoglioma syndrome mimicking isolated microphthalmia. (28111184)
2017
2
Osteoporosis-pseudoglioma syndrome: Report of two cases and a manifesting carrier. (28145787)
2017
3
Osteoporosis-pseudoglioma syndrome in South Africa. (27245540)
2016
4
Fractures on bisphosphonates in osteoporosis pseudoglioma syndrome (OPPG): pQCT shows poor bone density and structure. (25892485)
2015
5
Congenital Bilateral Retinal Detachment in Two Siblings with Osteoporosis-Pseudoglioma Syndrome. (25945592)
2015
6
Atypical Femoral Fracture in Osteoporosis Pseudoglioma Syndrome Associated With Two Novel Compound Heterozygous Mutations in LRP5. (25384351)
2014
7
Osteoporosis-pseudoglioma syndrome: three novel mutations in the LRP5 gene and response to bisphosphonate treatment. (22456437)
2012
8
Novel mutations affecting LRP5 splicing in patients with osteoporosis-pseudoglioma syndrome (OPPG). (21407258)
2011
9
Novel LRP5 gene mutation in a patient with osteoporosis-pseudoglioma syndrome. (20096619)
2010
10
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
11
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
12
Three years follow-up of pamidronate therapy in two brothers with osteoporosis-pseudoglioma syndrome (OPPG) carrying an LRP5 mutation. (18825883)
2008
13
Osteoporosis-pseudoglioma syndrome: description of 9 new cases and beneficial response to bisphosphonates. (18602879)
2008
14
A novel mutation in the LRP5 gene is associated with osteoporosis- pseudoglioma syndrome. (17437160)
2007
15
Osteoporosis-pseudoglioma syndrome may not be caused by persistent fetal vasculature. (17353427)
2007
16
Familial exudative vitreoretinopathy and osteoporosis-pseudoglioma syndrome caused by a mutation in the LRP5 gene. (17353424)
2007
17
A family with osteoporosis pseudoglioma syndrome due to compound heterozygosity of two novel mutations in the LRP5 gene. (16679074)
2006
18
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
19
Motor function improvement after intravenous pamidronate in osteoporosis pseudoglioma syndrome. (17095368)
2006
20
Clinical and molecular findings in osteoporosis-pseudoglioma syndrome. (16252235)
2005
21
LRP5 mutations in osteoporosis-pseudoglioma syndrome and high-bone-mass disorders. (15850991)
2005
22
Failure of operative treatment in a child with osteoporosis-pseudoglioma syndrome. (12771838)
2003
23
Congenital blindness and osteoporosis-pseudoglioma syndrome. (12690376)
2003
24
Decreased bone density in carriers and patients of an Israeli family with the osteoporosis-pseudoglioma syndrome. (12841014)
2003
25
Bilateral retinal detachments at birth: the osteoporosis pseudoglioma syndrome. (11561553)
2001
26
Osteoporosis pseudoglioma syndrome: treatment of spinal osteoporosis with intravenous bisphosphonates. (10969269)
2000
27
Osteoporosis pseudoglioma syndrome. (10713847)
1999
28
Persistent hyperplastic primary vitreous in a family with osteoporosis-pseudoglioma syndrome. (9134299)
1997
29
Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13. (8659519)
1996
30
The osteoporosis pseudoglioma syndrome. (8294375)
1993
31
Osteoporosis-pseudoglioma syndrome. (8418655)
1993
32
Multiple fractures in a child: the osteoporosis pseudoglioma syndrome. A case report. (1400555)
1992
33
Case report 613: Osteoporosis pseudoglioma syndrome. (2353218)
1990
34
The osteoporosis pseudoglioma syndrome. Update and report on two affected siblings. (3174281)
1988
35
Osteoporosis-pseudoglioma syndrome with congenital heart disease: a new association. (3351889)
1988
36
Osteoporosis-pseudoglioma syndrome: clinical, morphological, and biochemical studies. (3172149)
1988
37
Osteogenesis imperfecta or osteoporosis-pseudoglioma syndrome. (3802564)
1986
38
Osteoporosis-pseudoglioma syndrome. (3698336)
1986
39
Osteoporosis-pseudoglioma syndrome and the ocular form of osteogenesis imperfecta. (3698335)
1986
40
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:

70 (show all 24)
id Symbol AA change Variation ID SNP ID
1LRP5p.Arg494GlnVAR_021814rs121908664
2LRP5p.Arg570TrpVAR_021815rs121908665
3LRP5p.Asp203AsnVAR_063945rs760548029
4LRP5p.Thr244MetVAR_063946rs397514665
5LRP5p.Ser307PheVAR_063947
6LRP5p.Arg348TrpVAR_063948
7LRP5p.Arg353GlnVAR_063949
8LRP5p.Ser356LeuVAR_063950
9LRP5p.Thr390LysVAR_063951
10LRP5p.Ala400GluVAR_063952
11LRP5p.Gly404ArgVAR_063953rs750791263
12LRP5p.Thr409AlaVAR_063954
13LRP5p.Asp434AsnVAR_063955rs757888034
14LRP5p.Glu460LysVAR_063959rs866606166
15LRP5p.Trp478ArgVAR_063960
16LRP5p.Trp504CysVAR_063961
17LRP5p.Gly520ValVAR_063963
18LRP5p.Asn531IleVAR_063965
19LRP5p.Gly610ArgVAR_063968rs80358313
20LRP5p.Asp683AsnVAR_063970
21LRP5p.Tyr733HisVAR_063971rs746701187
22LRP5p.Asp1099TyrVAR_063975
23LRP5p.Arg1113CysVAR_063976rs377258285
24LRP5p.Gly1401AspVAR_063979

Clinvar genetic disease variations for Osteoporosis-Pseudoglioma Syndrome:

5 (show all 22)
id Gene Variation Type Significance SNP ID Assembly Location
1LRP5NM_ 002335.3(LRP5): c.1142A> G (p.Asp381Gly)SNVLikely pathogenicrs886040977GRCh38Chr 11, 68386442: 68386442
2LRP5NM_ 002335.3(LRP5): c.2737dupT (p.Cys913Leufs)duplicationPathogenicrs886043590GRCh38Chr 11, 68413922: 68413922
3LRP5NM_ 002335.3(LRP5): c.205G> T (p.Asp69Tyr)SNVLikely pathogenicrs1057519574GRCh37Chr 11, 68115428: 68115428
4LRP5NM_ 002335.3(LRP5): c.4489-2A> GSNVLikely pathogenicrs1057519575GRCh38Chr 11, 68446434: 68446434
5LRP5NM_ 002335.3(LRP5): c.1655C> T (p.Thr552Met)SNVPathogenicrs397514663GRCh37Chr 11, 68171021: 68171021
6LRP5NM_ 002335.3(LRP5): c.1145C> T (p.Pro382Leu)SNVPathogenicrs397514664GRCh37Chr 11, 68153913: 68153913
7LRP5NM_ 002335.3(LRP5): c.731C> T (p.Thr244Met)SNVPathogenicrs397514665GRCh37Chr 11, 68131259: 68131259
8LRP5NM_ 002335.3(LRP5): c.4600C> T (p.Arg1534Ter)SNVPathogenicrs149645175GRCh37Chr 11, 68216290: 68216290
9LRP5LRP5, IVS7, G-A, +1SNVPathogenic
10LRP5LRP5, 7.2-KB DEL, EXONS 22-23deletionPathogenic
11LRP5NM_ 002335.3(LRP5): c.29G> A (p.Trp10Ter)SNVPathogenicrs121908660GRCh37Chr 11, 68080211: 68080211
12LRP5NM_ 002335.3(LRP5): c.1282C> T (p.Arg428Ter)SNVPathogenicrs121908661GRCh37Chr 11, 68154050: 68154050
13LRP5LRP5, 1-BP DEL, 1467GdeletionPathogenic
14LRP5NM_ 002335.3(LRP5): c.2151dupT (p.Asp718Terfs)duplicationPathogenicrs121908662GRCh37Chr 11, 68177441: 68177441
15LRP5NM_ 002335.3(LRP5): c.2557C> T (p.Gln853Ter)SNVPathogenicrs121908663GRCh37Chr 11, 68181210: 68181210
16LRP5LRP5, 1-BP DEL, 3804AdeletionPathogenic
17LRP5NM_ 002335.3(LRP5): c.1481G> A (p.Arg494Gln)SNVPathogenic/ Likely pathogenicrs121908664GRCh37Chr 11, 68157417: 68157417
18LRP5NM_ 002335.3(LRP5): c.1708C> T (p.Arg570Trp)SNVPathogenicrs121908665GRCh37Chr 11, 68171074: 68171074
19LRP5NM_ 002335.3(LRP5): c.1453G> T (p.Glu485Ter)SNVPathogenicrs121908666GRCh37Chr 11, 68157389: 68157389
20LRP5NM_ 002335.3(LRP5): c.2202G> A (p.Trp734Ter)SNVPathogenicrs121908667GRCh37Chr 11, 68177492: 68177492
21LRP5LRP5, 1-BP DEL, 2305GdeletionPathogenic
22LRP5NM_ 002335.3(LRP5): c.433C> T (p.Leu145Phe)SNVPathogenicrs80358305GRCh37Chr 11, 68115656: 68115656

Expression for genes affiliated with Osteoporosis-Pseudoglioma Syndrome

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

Pathways for genes affiliated with Osteoporosis-Pseudoglioma Syndrome

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Pathways related to Osteoporosis-Pseudoglioma Syndrome according to GeneCards Suite gene sharing:

(show all 16)
idSuper pathwaysScoreTop Affiliating Genes
19.5CTNNB1, LRP5
29.5CTNNB1, LRP5
39.5CTNNB1, LRP5
49.5CTNNB1, LRP5
59.5FZD4, LRP5
6
Show member pathways
9.5FZD4, LRP5
79.4CTNNB1, FZD4
89.4CTNNB1, FZD4
99.4CTNNB1, FZD4
10
Show member pathways
9.0CTNNB1, FZD4, LRP5
11
Show member pathways
9.0CTNNB1, FZD4, LRP5
129.0CTNNB1, FZD4, LRP5
139.0CTNNB1, FZD4, LRP5
14
Show member pathways
9.0CTNNB1, FZD4, LRP5
158.6CTNNB1, FZD4, LRP5, LRP8
16
Show member pathways
8.2CTNNB1, FZD4, LDLR, LRP5

GO Terms for genes affiliated with Osteoporosis-Pseudoglioma Syndrome

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Cellular components related to Osteoporosis-Pseudoglioma Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1apical part of cellGO:00451779.8CTNNB1, LDLR
2clathrin-coated endocytic vesicle membraneGO:00306699.7FZD4, LDLR
3Wnt signalosomeGO:19909099.5CTNNB1, LRP5
4cell surfaceGO:00099869.1FZD4, LDLR, NDP
5receptor complexGO:00432359.0LDLR, LRP5, LRP8

Biological processes related to Osteoporosis-Pseudoglioma Syndrome according to GeneCards Suite gene sharing:

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1beta-catenin destruction complex disassemblyGO:190488610.3CTNNB1, LRP5
2embryonic digit morphogenesisGO:004273310.3CTNNB1, LRP5
3gastrulation with mouth forming secondGO:000170210.2CTNNB1, LRP5
4positive regulation of mesenchymal cell proliferationGO:000205310.2CTNNB1, LRP5
5cellular response to growth factor stimulusGO:007136310.2CTNNB1, LRP8
6retinal blood vessel morphogenesisGO:006130410.2FZD4, LRP5
7vasculature developmentGO:000194410.2CTNNB1, LRP5
8vasculogenesisGO:000157010.0CTNNB1, FZD4
9cholesterol homeostasisGO:004263210.0LDLR, LRP5
10cholesterol metabolic processGO:000820310.0LDLR, LRP5
11extracellular matrix-cell signalingGO:00354269.6FZD4, LRP5, NDP
12retina vasculature morphogenesis in camera-type eyeGO:00612999.5FZD4, LRP5, NDP
13endocytosisGO:00068979.5LDLR, LRP5, LRP8
14Wnt signaling pathway, calcium modulating pathwayGO:00072239.4CTNNB1, FZD4
15canonical Wnt signaling pathwayGO:00600709.1CTNNB1, FZD4, LRP5, NDP
16positive regulation of sequence-specific DNA binding transcription factor activityGO:00510919.1CTNNB1, FZD4, LRP5, NDP
17positive regulation of transcription, DNA-templatedGO:00458939.0CTNNB1, FZD4, LRP5, NDP
18Wnt signaling pathwayGO:00160558.8CTNNB1, FZD4, LRP5, NDP

Molecular functions related to Osteoporosis-Pseudoglioma Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1Wnt-activated receptor activityGO:00428139.9FZD4, LRP5
2low-density lipoprotein receptor activityGO:00050419.7LDLR, LRP8
3very-low-density lipoprotein particle receptor activityGO:00302299.6LDLR, LRP8
4Wnt-protein bindingGO:00171479.5FZD4, LRP5

Sources for Osteoporosis-Pseudoglioma Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet