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

Aliases & Descriptions for Osteoporosis-Pseudoglioma Syndrome:

Name: Osteoporosis-Pseudoglioma Syndrome 54 12 50 25 56 66 13 52 42 14
Oppg 12 50 25 56 66
Osteoporosis Pseudoglioma Syndrome 50 24 29
Ocular Form of Osteogenesis Imperfecta 12 56
Osteogenesis Imperfecta, Ocular Form 24 25
Osteogenesis Imperfecta Ocular Form 50 66
Ops 50 66
Pseudoglioma with Bone Fragility 50
Osteoporosis with Pseudoglioma 69

Characteristics:

Orphanet epidemiological data:

56
osteoporosis-pseudoglioma syndrome
Inheritance: Autosomal recessive; Age of onset: Childhood;

HPO:

32
osteoporosis-pseudoglioma syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 259770
Disease Ontology 12 DOID:0060849
Orphanet 56 ORPHA2788
MESH via Orphanet 43 C536063
UMLS via Orphanet 70 C0432252
ICD10 via Orphanet 34 Q87.5
MedGen 40 C0432252
UMLS 69 C0432252

Summaries for Osteoporosis-Pseudoglioma Syndrome

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 muscular hypotonia, cataract and microcephaly. An important gene associated with Osteoporosis-Pseudoglioma Syndrome is LRP5 (LDL Receptor Related Protein 5), and among its related pathways/superpathways are Signaling by Wnt and S45 mutants of beta-catenin arent phosphorylated. The drugs Antidepressive Agents and Antimanic Agents have been mentioned in the context of this disorder. Affiliated tissues include bone, eye and heart, and related phenotypes are behavior/neurological and nervous system

Disease Ontology : 12 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 : 66 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: 259770

Related Diseases for Osteoporosis-Pseudoglioma Syndrome

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



Diseases related to Osteoporosis-Pseudoglioma Syndrome

Symptoms & Phenotypes for Osteoporosis-Pseudoglioma Syndrome

Symptoms by clinical synopsis from OMIM:

259770

Clinical features from OMIM:

259770

Human phenotypes related to Osteoporosis-Pseudoglioma Syndrome:

32 (show all 21)
id Description HPO Frequency HPO Source Accession
1 muscular hypotonia 32 HP:0001252
2 cataract 32 HP:0000518
3 microcephaly 32 HP:0000252
4 short stature 32 HP:0004322
5 blindness 32 HP:0000618
6 intellectual disability, mild 32 HP:0001256
7 osteoporosis 32 HP:0000939
8 platyspondyly 32 HP:0000926
9 pathologic fracture 32 HP:0002756
10 microphthalmia 32 HP:0000568
11 joint hypermobility 32 HP:0001382
12 ventricular septal defect 32 HP:0001629
13 phthisis bulbi 32 HP:0000667
14 kyphoscoliosis 32 HP:0002751
15 increased susceptibility to fractures 32 HP:0002659
16 metaphyseal widening 32 HP:0003016
17 glioma 32 HP:0009733
18 vitreoretinopathy 32 HP:0007773
19 barrel-shaped chest 32 HP:0001552
20 iris atrophy 32 HP:0001089
21 absent anterior eye chamber 32 HP:0008037

MGI Mouse Phenotypes related to Osteoporosis-Pseudoglioma Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.88 FZD4 LDLR LRP5 LRP8 NDP CTNNB1
2 nervous system MP:0003631 9.8 CTNNB1 FZD4 LDLR LRP5 LRP8 NDP
3 cardiovascular system MP:0005385 9.77 CTNNB1 FZD4 LDLR LRP5 NDP
4 no phenotypic analysis MP:0003012 9.56 NDP CTNNB1 FZD4 LDLR
5 normal MP:0002873 9.55 CTNNB1 FZD4 LDLR LRP5 LRP8
6 pigmentation MP:0001186 9.35 CTNNB1 FZD4 LDLR LRP5 NDP
7 vision/eye MP:0005391 9.02 CTNNB1 FZD4 LDLR LRP5 NDP

Drugs & Therapeutics for Osteoporosis-Pseudoglioma Syndrome

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

(show all 8)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Antidepressive Agents
2 Antimanic Agents
3 Central Nervous System Depressants
4 Lithium carbonate 554-13-2
5 Psychotropic Drugs
6 Tranquilizing Agents
7 Citrate Nutraceutical
8
Citric Acid Nutraceutical, Vet_approved 77-92-9 311

Interventional clinical trials:


id Name Status NCT ID Phase
1 Trial of Lithium Carbonate for Treatment of Osteoporosis-pseudoglioma Syndrome Completed NCT01108068
2 Growth Hormone for Osteoporosis Pseudoglioma Syndrome Withdrawn NCT01614171

Search NIH Clinical Center for Osteoporosis-Pseudoglioma Syndrome

Cochrane evidence based reviews: osteoporosis-pseudoglioma syndrome

Genetic Tests for Osteoporosis-Pseudoglioma Syndrome

Genetic tests related to Osteoporosis-Pseudoglioma Syndrome:

id Genetic test Affiliating Genes
1 Osteoporosis with Pseudoglioma 29
2 Osteoporosis Pseudoglioma Syndrome 24 LRP5

Anatomical Context for Osteoporosis-Pseudoglioma Syndrome

MalaCards organs/tissues related to Osteoporosis-Pseudoglioma Syndrome:

39
Bone, Eye, Heart

Publications for Osteoporosis-Pseudoglioma Syndrome

Articles related to Osteoporosis-Pseudoglioma Syndrome:

(show all 40)
id Title Authors Year
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

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

66 (show all 24)
id Symbol AA change Variation ID SNP ID
1 LRP5 p.Arg494Gln VAR_021814 rs121908664
2 LRP5 p.Arg570Trp VAR_021815 rs121908665
3 LRP5 p.Asp203Asn VAR_063945 rs760548029
4 LRP5 p.Thr244Met VAR_063946 rs397514665
5 LRP5 p.Ser307Phe VAR_063947
6 LRP5 p.Arg348Trp VAR_063948
7 LRP5 p.Arg353Gln VAR_063949
8 LRP5 p.Ser356Leu VAR_063950
9 LRP5 p.Thr390Lys VAR_063951
10 LRP5 p.Ala400Glu VAR_063952
11 LRP5 p.Gly404Arg VAR_063953 rs750791263
12 LRP5 p.Thr409Ala VAR_063954
13 LRP5 p.Asp434Asn VAR_063955 rs757888034
14 LRP5 p.Glu460Lys VAR_063959 rs866606166
15 LRP5 p.Trp478Arg VAR_063960
16 LRP5 p.Trp504Cys VAR_063961
17 LRP5 p.Gly520Val VAR_063963
18 LRP5 p.Asn531Ile VAR_063965
19 LRP5 p.Gly610Arg VAR_063968 rs80358313
20 LRP5 p.Asp683Asn VAR_063970
21 LRP5 p.Tyr733His VAR_063971 rs746701187
22 LRP5 p.Asp1099Tyr VAR_063975
23 LRP5 p.Arg1113Cys VAR_063976 rs377258285
24 LRP5 p.Gly1401Asp VAR_063979

ClinVar genetic disease variations for Osteoporosis-Pseudoglioma Syndrome:

6 (show all 22)
id Gene Variation Type Significance SNP ID Assembly Location
1 LRP5 NM_002335.3(LRP5): c.29G> A (p.Trp10Ter) single nucleotide variant Pathogenic rs121908660 GRCh37 Chromosome 11, 68080211: 68080211
2 LRP5 NM_002335.3(LRP5): c.1282C> T (p.Arg428Ter) single nucleotide variant Pathogenic rs121908661 GRCh37 Chromosome 11, 68154050: 68154050
3 LRP5 LRP5, 1-BP DEL, 1467G deletion Pathogenic
4 LRP5 NM_002335.3(LRP5): c.2151dupT (p.Asp718Terfs) duplication Pathogenic rs121908662 GRCh37 Chromosome 11, 68177441: 68177441
5 LRP5 NM_002335.3(LRP5): c.2557C> T (p.Gln853Ter) single nucleotide variant Pathogenic rs121908663 GRCh37 Chromosome 11, 68181210: 68181210
6 LRP5 LRP5, 1-BP DEL, 3804A deletion Pathogenic
7 LRP5 NM_002335.3(LRP5): c.1481G> A (p.Arg494Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121908664 GRCh37 Chromosome 11, 68157417: 68157417
8 LRP5 NM_002335.3(LRP5): c.1708C> T (p.Arg570Trp) single nucleotide variant Pathogenic rs121908665 GRCh37 Chromosome 11, 68171074: 68171074
9 LRP5 NM_002335.3(LRP5): c.1453G> T (p.Glu485Ter) single nucleotide variant Pathogenic rs121908666 GRCh37 Chromosome 11, 68157389: 68157389
10 LRP5 NM_002335.3(LRP5): c.2202G> A (p.Trp734Ter) single nucleotide variant Pathogenic rs121908667 GRCh37 Chromosome 11, 68177492: 68177492
11 LRP5 LRP5, 1-BP DEL, 2305G deletion Pathogenic
12 LRP5 NM_002335.3(LRP5): c.433C> T (p.Leu145Phe) single nucleotide variant Pathogenic rs80358305 GRCh37 Chromosome 11, 68115656: 68115656
13 LRP5 NM_002335.3(LRP5): c.1655C> T (p.Thr552Met) single nucleotide variant Pathogenic rs397514663 GRCh37 Chromosome 11, 68171021: 68171021
14 LRP5 NM_002335.3(LRP5): c.1145C> T (p.Pro382Leu) single nucleotide variant Pathogenic rs397514664 GRCh37 Chromosome 11, 68153913: 68153913
15 LRP5 NM_002335.3(LRP5): c.731C> T (p.Thr244Met) single nucleotide variant Pathogenic rs397514665 GRCh37 Chromosome 11, 68131259: 68131259
16 LRP5 NM_002335.3(LRP5): c.4600C> T (p.Arg1534Ter) single nucleotide variant Pathogenic rs149645175 GRCh37 Chromosome 11, 68216290: 68216290
17 LRP5 LRP5, IVS7, G-A, +1 single nucleotide variant Pathogenic
18 LRP5 LRP5, 7.2-KB DEL, EXONS 22-23 deletion Pathogenic
19 LRP5 NM_002335.3(LRP5): c.1142A> G (p.Asp381Gly) single nucleotide variant Likely pathogenic rs886040977 GRCh38 Chromosome 11, 68386442: 68386442
20 LRP5 NM_002335.3(LRP5): c.2737dupT (p.Cys913Leufs) duplication Pathogenic rs886043590 GRCh38 Chromosome 11, 68413922: 68413922
21 LRP5 NM_002335.3(LRP5): c.205G> T (p.Asp69Tyr) single nucleotide variant Likely pathogenic rs1057519574 GRCh37 Chromosome 11, 68115428: 68115428
22 LRP5 NM_002335.3(LRP5): c.4489-2A> G single nucleotide variant Likely pathogenic rs1057519575 GRCh38 Chromosome 11, 68446434: 68446434

Expression for Osteoporosis-Pseudoglioma Syndrome

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

Pathways for Osteoporosis-Pseudoglioma Syndrome

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

(show all 16)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.49 CTNNB1 FZD4 LRP5
2
Show member pathways
12.15 CTNNB1 FZD4 LRP5
3 12.03 CTNNB1 FZD4 LRP5
4
Show member pathways
11.76 CTNNB1 FZD4 LDLR LRP5
5
Show member pathways
11.66 CTNNB1 FZD4 LRP5
6 11.6 CTNNB1 FZD4
7 11.55 CTNNB1 FZD4 LRP5
8 11.41 CTNNB1 LRP5
9 11.36 CTNNB1 FZD4
10 11.29 CTNNB1 FZD4
11 11.22 CTNNB1 LRP5
12 10.95 CTNNB1 LRP5
13 10.93 CTNNB1 FZD4 LRP5 LRP8
14
Show member pathways
10.9 FZD4 LRP5
15 10.82 FZD4 LRP5
16 10.7 CTNNB1 LRP5

GO Terms for Osteoporosis-Pseudoglioma Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 9.5 FZD4 LDLR NDP
2 apical part of cell GO:0045177 9.26 CTNNB1 LDLR
3 clathrin-coated endocytic vesicle membrane GO:0030669 9.16 FZD4 LDLR
4 receptor complex GO:0043235 9.13 LDLR LRP5 LRP8
5 Wnt signalosome GO:1990909 8.62 CTNNB1 LRP5

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

(show all 18)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.71 CTNNB1 FZD4 LRP5 NDP
2 Wnt signaling pathway GO:0016055 9.62 CTNNB1 FZD4 LRP5 NDP
3 endocytosis GO:0006897 9.61 LDLR LRP5 LRP8
4 cholesterol metabolic process GO:0008203 9.58 LDLR LRP5
5 cholesterol homeostasis GO:0042632 9.57 LDLR LRP5
6 vasculogenesis GO:0001570 9.56 CTNNB1 FZD4
7 positive regulation of sequence-specific DNA binding transcription factor activity GO:0051091 9.56 CTNNB1 FZD4 LRP5 NDP
8 embryonic digit morphogenesis GO:0042733 9.55 CTNNB1 LRP5
9 cellular response to growth factor stimulus GO:0071363 9.54 CTNNB1 LRP8
10 Wnt signaling pathway, calcium modulating pathway GO:0007223 9.52 CTNNB1 FZD4
11 positive regulation of mesenchymal cell proliferation GO:0002053 9.51 CTNNB1 LRP5
12 beta-catenin destruction complex disassembly GO:1904886 9.49 CTNNB1 LRP5
13 vasculature development GO:0001944 9.48 CTNNB1 LRP5
14 gastrulation with mouth forming second GO:0001702 9.46 CTNNB1 LRP5
15 canonical Wnt signaling pathway GO:0060070 9.46 CTNNB1 FZD4 LRP5 NDP
16 retinal blood vessel morphogenesis GO:0061304 9.37 FZD4 LRP5
17 retina vasculature morphogenesis in camera-type eye GO:0061299 9.13 FZD4 LRP5 NDP
18 extracellular matrix-cell signaling GO:0035426 8.8 FZD4 LRP5 NDP

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

id Name GO ID Score Top Affiliating Genes
1 Wnt-protein binding GO:0017147 9.26 FZD4 LRP5
2 Wnt-activated receptor activity GO:0042813 9.16 FZD4 LRP5
3 low-density lipoprotein receptor activity GO:0005041 8.96 LDLR LRP8
4 very-low-density lipoprotein particle receptor activity GO:0030229 8.62 LDLR LRP8

Sources for Osteoporosis-Pseudoglioma Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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