MCID: OST024
MIFTS: 55

Osteoporosis-Pseudoglioma Syndrome 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:
50OMIM, 46NIH Rare Diseases, 24Genetics Home Reference, 52Orphanet, 68UniProtKB/Swiss-Prot, 12diseasecard, 48Novoseek, 23GeneTests, 25GTR, 66UMLS, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 37MeSH, 28ICD10, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Osteoporosis-Pseudoglioma Syndrome:

Name: Osteoporosis-Pseudoglioma Syndrome 50 46 24 52 68 12 48
Oppg 46 24 52 68
Osteoporosis Pseudoglioma Syndrome 46 23 25
Osteogenesis Imperfecta, Ocular Form 23 24
Osteogenesis Imperfecta Ocular Form 46 68
 
Ops 46 68
Ocular Form of Osteogenesis Imperfecta 52
Pseudoglioma with Bone Fragility 46
Osteoporosis with Pseudoglioma 66

Characteristics:

Orphanet epidemiological data:

52
osteoporosis-pseudoglioma syndrome:
Inheritance: Autosomal recessive; Age of onset: Childhood

HPO:

62
osteoporosis-pseudoglioma syndrome:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 259770
Orphanet52 ORPHA2788
ICD10 via Orphanet29 Q87.5
MESH via Orphanet38 C536063
UMLS via Orphanet67 C0432252
MedGen35 C0432252
MeSH37 D010013

Summaries for Osteoporosis-Pseudoglioma Syndrome

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Genetics Home Reference:24 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 visual impairment, cataract and muscular hypotonia. An important gene associated with Osteoporosis-Pseudoglioma Syndrome is LRP5 (LDL Receptor Related Protein 5), and among its related pathways are Regulation of FZD by ubiquitination and N-cadherin signaling events. Affiliated tissues include bone, eye and heart, and related mouse phenotypes are reproductive system and pigmentation.

UniProtKB/Swiss-Prot:68 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:50 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 for Osteoporosis-Pseudoglioma Syndrome

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Symptoms by clinical synopsis from OMIM:

259770

Clinical features from OMIM:

259770

HPO human phenotypes related to Osteoporosis-Pseudoglioma Syndrome:

(show all 40)
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 microcephaly HP:0000252
22 cataract HP:0000518
23 microphthalmia HP:0000568
24 blindness HP:0000618
25 phthisis bulbi HP:0000667
26 platyspondyly HP:0000926
27 osteoporosis HP:0000939
28 iris atrophy HP:0001089
29 muscular hypotonia HP:0001252
30 intellectual disability, mild HP:0001256
31 joint hypermobility HP:0001382
32 barrel-shaped chest HP:0001552
33 ventricular septal defect HP:0001629
34 kyphoscoliosis HP:0002751
35 pathologic fracture HP:0002756
36 metaphyseal widening HP:0003016
37 short stature HP:0004322
38 vitreoretinopathy HP:0007773
39 absent anterior eye chamber HP:0008037
40 glioma HP:0009733

Drugs & Therapeutics for Osteoporosis-Pseudoglioma Syndrome

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Lithium carbonate222554-13-2
2
Citric Acid106377-92-9311
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
3CitrateNutraceutical1063

Interventional clinical trials:

idNameStatusNCT IDPhase
1Trial of Lithium Carbonate for Treatment of Osteoporosis-pseudoglioma SyndromeCompletedNCT01108068
2Growth Hormone for Osteoporosis Pseudoglioma SyndromeNot yet recruitingNCT01614171

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 with Pseudoglioma25
2 Osteoporosis Pseudoglioma Syndrome23 LRP5

Anatomical Context for Osteoporosis-Pseudoglioma Syndrome

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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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MGI Mouse Phenotypes related to Osteoporosis-Pseudoglioma Syndrome:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053898.5CTNNB1, FZD4, KREMEN1, LRP8, NDP
2MP:00011867.9CTNNB1, FZD4, LDLR, LRP5, NDP, VLDLR
3MP:00028737.6CTNNB1, FZD4, KREMEN1, LDLR, LRP5, LRP8
4MP:00053847.6CTNNB1, FZD4, LDLR, LRP5, LRP8, VLDLR
5MP:00053857.3CTNNB1, FZD4, LDLR, LRP5, NDP, VLDLR
6MP:00053917.1CTNNB1, FZD4, LDLR, LRP5, NDP, VLDLR
7MP:00036317.0CTNNB1, FZD4, LDLR, LRP5, LRP8, NDP
8MP:00053866.9CTNNB1, FZD4, LDLR, LRP5, LRP8, NDP

Publications for Osteoporosis-Pseudoglioma Syndrome

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Articles related to Osteoporosis-Pseudoglioma Syndrome:

(show all 39)
idTitleAuthorsYear
1
Osteoporosis-pseudoglioma syndrome in South Africa. (27245540)
2016
2
Congenital Bilateral Retinal Detachment in Two Siblings with Osteoporosis-Pseudoglioma Syndrome. (25945592)
2015
3
Fractures on bisphosphonates in osteoporosis pseudoglioma syndrome (OPPG): pQCT shows poor bone density and structure. (25892485)
2015
4
Atypical Femoral Fracture in Osteoporosis Pseudoglioma Syndrome Associated With Two Novel Compound Heterozygous Mutations in LRP5. (25384351)
2014
5
Osteoporosis-pseudoglioma syndrome: three novel mutations in the LRP5 gene and response to bisphosphonate treatment. (22456437)
2012
6
Novel mutations affecting LRP5 splicing in patients with osteoporosis-pseudoglioma syndrome (OPPG). (21407258)
2011
7
Novel LRP5 gene mutation in a patient with osteoporosis-pseudoglioma syndrome. (20096619)
2010
8
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
9
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
10
Three years follow-up of pamidronate therapy in two brothers with osteoporosis-pseudoglioma syndrome (OPPG) carrying an LRP5 mutation. (18825883)
2008
11
Osteoporosis-pseudoglioma syndrome: description of 9 new cases and beneficial response to bisphosphonates. (18602879)
2008
12
A novel mutation in the LRP5 gene is associated with osteoporosis- pseudoglioma syndrome. (17437160)
2007
13
Osteoporosis-pseudoglioma syndrome may not be caused by persistent fetal vasculature. (17353427)
2007
14
Familial exudative vitreoretinopathy and osteoporosis-pseudoglioma syndrome caused by a mutation in the LRP5 gene. (17353424)
2007
15
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
16
Asymmetrical ocular involvement and persistent fetal vasculature in an adult with osteoporosis-pseudoglioma syndrome. (16534066)
2006
17
A family with osteoporosis pseudoglioma syndrome due to compound heterozygosity of two novel mutations in the LRP5 gene. (16679074)
2006
18
Motor function improvement after intravenous pamidronate in osteoporosis pseudoglioma syndrome. (17095368)
2006
19
Clinical and molecular findings in osteoporosis-pseudoglioma syndrome. (16252235)
2005
20
LRP5 mutations in osteoporosis-pseudoglioma syndrome and high-bone-mass disorders. (15850991)
2005
21
Failure of operative treatment in a child with osteoporosis-pseudoglioma syndrome. (12771838)
2003
22
Congenital blindness and osteoporosis-pseudoglioma syndrome. (12690376)
2003
23
Decreased bone density in carriers and patients of an Israeli family with the osteoporosis-pseudoglioma syndrome. (12841014)
2003
24
Bilateral retinal detachments at birth: the osteoporosis pseudoglioma syndrome. (11561553)
2001
25
Osteoporosis pseudoglioma syndrome: treatment of spinal osteoporosis with intravenous bisphosphonates. (10969269)
2000
26
Osteoporosis pseudoglioma syndrome. (10713847)
1999
27
Persistent hyperplastic primary vitreous in a family with osteoporosis-pseudoglioma syndrome. (9134299)
1997
28
Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13. (8659519)
1996
29
The osteoporosis pseudoglioma syndrome. (8294375)
1993
30
Osteoporosis-pseudoglioma syndrome. (8418655)
1993
31
Multiple fractures in a child: the osteoporosis pseudoglioma syndrome. A case report. (1400555)
1992
32
Case report 613: Osteoporosis pseudoglioma syndrome. (2353218)
1990
33
The osteoporosis pseudoglioma syndrome. Update and report on two affected siblings. (3174281)
1988
34
Osteoporosis-pseudoglioma syndrome with congenital heart disease: a new association. (3351889)
1988
35
Osteoporosis-pseudoglioma syndrome: clinical, morphological, and biochemical studies. (3172149)
1988
36
Osteogenesis imperfecta or osteoporosis-pseudoglioma syndrome. (3802564)
1986
37
Osteoporosis-pseudoglioma syndrome and the ocular form of osteogenesis imperfecta. (3698335)
1986
38
Osteoporosis-pseudoglioma syndrome. (3698336)
1986
39
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:

68 (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_063959
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 19)
id Gene Variation 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: 68177441
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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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
1
Show member pathways
9.7FZD4, LRP5
29.7CTNNB1, LRP5
3
Show member pathways
9.6KREMEN1, LRP5
4
Show member pathways
9.3CTNNB1, FZD4, LRP5
59.3CTNNB1, FZD4, LRP5
6
Show member pathways
9.3CTNNB1, FZD4, LRP5
7
Show member pathways
9.2CTNNB1, FZD4, NDP
89.2FZD4, KREMEN1, LRP5
99.1LRP8, VLDLR
109.1LRP8, VLDLR
11
Show member pathways
8.7CTNNB1, FZD4, KREMEN1, LRP5
12
Show member pathways
8.7CTNNB1, FZD4, KREMEN1, LRP5
138.7CTNNB1, FZD4, KREMEN1, LRP5
14
Show member pathways
8.7CTNNB1, FZD4, KREMEN1, LRP5
15
Show member pathways
8.6CTNNB1, FZD4, LDLR, LRP5
167.9CTNNB1, FZD4, LRP5, LRP8, VLDLR

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
1Wnt signalosomeGO:199090910.1CTNNB1, LRP5
2clathrin-coated endocytic vesicle membraneGO:00306699.9FZD4, LDLR
3clathrin-coated pitGO:00059059.2LDLR, VLDLR
4apical part of cellGO:00451778.6CTNNB1, LDLR, VLDLR
5receptor complexGO:00432358.4LDLR, LRP5, LRP8, VLDLR
6cell surfaceGO:00099867.9FZD4, LDLR, NDP, VLDLR

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

(show all 24)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of mesenchymal cell proliferationGO:000205310.2CTNNB1, LRP5
2beta-catenin destruction complex disassemblyGO:190488610.2CTNNB1, LRP5
3embryonic digit morphogenesisGO:004273310.2CTNNB1, LRP5
4vasculature developmentGO:000194410.2CTNNB1, LRP5
5gastrulation with mouth forming secondGO:000170210.1CTNNB1, LRP5
6retinal blood vessel morphogenesisGO:006130410.1FZD4, LRP5
7vasculogenesisGO:000157010.1CTNNB1, FZD4
8Wnt signaling pathway, calcium modulating pathwayGO:000722310.1CTNNB1, FZD4
9extracellular matrix-cell signalingGO:003542610.1FZD4, LRP5, NDP
10regulation of canonical Wnt signaling pathwayGO:006082810.1KREMEN1, LRP5
11cholesterol homeostasisGO:00426329.9LDLR, LRP5
12retina vasculature morphogenesis in camera-type eyeGO:00612999.9FZD4, LRP5, NDP
13cellular response to growth factor stimulusGO:00713639.9CTNNB1, LRP8
14cerebral cortex developmentGO:00219879.6LRP8, VLDLR
15positive regulation of dendrite developmentGO:19000069.6LRP8, VLDLR
16reelin-mediated signaling pathwayGO:00380269.6LRP8, VLDLR
17positive regulation of sequence-specific DNA binding transcription factor activityGO:00510919.3CTNNB1, FZD4, LRP5, NDP
18canonical Wnt signaling pathwayGO:00600709.2CTNNB1, FZD4, LRP5, NDP
19positive regulation of transcription, DNA-templatedGO:00458939.1CTNNB1, FZD4, LRP5, NDP
20cholesterol metabolic processGO:00082039.1LDLR, LRP5, VLDLR
21endocytosisGO:00068979.0LDLR, LRP5, LRP8
22receptor-mediated endocytosisGO:00068988.8LDLR, LRP8, VLDLR
23response to drugGO:00424938.7CTNNB1, LRP8, VLDLR
24Wnt signaling pathwayGO:00160558.3CTNNB1, FZD4, KREMEN1, LRP5, NDP

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1Wnt-activated receptor activityGO:004281310.1FZD4, LRP5
2Wnt-protein bindingGO:00171479.7FZD4, LRP5
3reelin receptor activityGO:00380259.5LRP8, VLDLR
4apolipoprotein bindingGO:00341859.4LRP8, VLDLR
5glycoprotein bindingGO:00019489.0LDLR, VLDLR
6very-low-density lipoprotein particle receptor activityGO:00302298.9LDLR, LRP8, VLDLR
7low-density lipoprotein receptor activityGO:00050418.4LDLR, LRP8, VLDLR

Sources for Osteoporosis-Pseudoglioma Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet