MCID: OST024
MIFTS: 54

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:
12diseasecard, 24GeneTests, 25Genetics Home Reference, 27GTR, 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 48 25 54 70 12 50
Oppg 48 25 54 70
Osteoporosis Pseudoglioma Syndrome 48 24 27
Osteogenesis Imperfecta, Ocular Form 24 25
Osteogenesis Imperfecta Ocular Form 48 70
 
Ops 48 70
Ocular Form of Osteogenesis Imperfecta 54
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
Orphanet54 ORPHA2788
MESH via Orphanet40 C536063
UMLS via Orphanet69 C0432252
ICD10 via Orphanet31 Q87.5
MedGen37 C0432252
MeSH39 D010013

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 pediatric extraocular retinoblastoma, 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 cardiovascular system.

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 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 36)
id Description HPO Frequency HPO Source Accession
1 visual impairment64 hallmark (90%) HP:0000505
2 cataract64 hallmark (90%) HP:0000518
3 muscular hypotonia64 hallmark (90%) HP:0001252
4 joint hypermobility64 hallmark (90%) HP:0001382
5 delayed skeletal maturation64 hallmark (90%) HP:0002750
6 recurrent fractures64 hallmark (90%) HP:0002757
7 abnormal form of the vertebral bodies64 hallmark (90%) HP:0003312
8 reduced bone mineral density64 hallmark (90%) HP:0004349
9 bowing of the long bones64 hallmark (90%) HP:0006487
10 aplasia/hypoplasia affecting the eye64 hallmark (90%) HP:0008056
11 abnormality of the pupil64 typical (50%) HP:0000615
12 short stature64 typical (50%) HP:0004322
13 cognitive impairment64 typical (50%) HP:0100543
14 micrognathia64 occasional (7.5%) HP:0000347
15 optic atrophy64 occasional (7.5%) HP:0000648
16 obesity64 occasional (7.5%) HP:0001513
17 low posterior hairline64 occasional (7.5%) HP:0002162
18 kyphosis64 occasional (7.5%) HP:0002808
19 depressed nasal bridge64 occasional (7.5%) HP:0005280
20 abnormal hair quantity64 occasional (7.5%) HP:0011362
21 microcephaly64 HP:0000252
22 microphthalmia64 HP:0000568
23 blindness64 HP:0000618
24 phthisis bulbi64 HP:0000667
25 platyspondyly64 HP:0000926
26 osteoporosis64 HP:0000939
27 iris atrophy64 HP:0001089
28 intellectual disability, mild64 HP:0001256
29 barrel-shaped chest64 HP:0001552
30 ventricular septal defect64 HP:0001629
31 kyphoscoliosis64 HP:0002751
32 pathologic fracture64 HP:0002756
33 metaphyseal widening64 HP:0003016
34 vitreoretinopathy64 HP:0007773
35 absent anterior eye chamber64 HP:0008037
36 glioma64 HP:0009733

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

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053898.6CTNNB1, FZD4, KREMEN1, LRP8, NDP
2MP:00053858.6CTNNB1, FZD4, LDLR, LRP5, NDP, VLDLR
3MP:00011868.5CTNNB1, FZD4, LDLR, LRP5, NDP, VLDLR
4MP:00053848.1CTNNB1, FZD4, LDLR, LRP5, LRP8, VLDLR
5MP:00028738.1CTNNB1, FZD4, KREMEN1, LDLR, LRP5, LRP8
6MP:00053867.8CTNNB1, FZD4, LDLR, LRP5, LRP8, NDP
7MP:00053917.7CTNNB1, FZD4, LDLR, LRP5, NDP, VLDLR
8MP:00036317.7CTNNB1, FZD4, LDLR, LRP5, LRP8, 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 11)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Hormone Antagonists12778
2Hormones, Hormone Substitutes, and Hormone Antagonists12767
3Hormones13979
4Psychotropic Drugs6279
5Tranquilizing Agents4164
6Lithium carbonate232554-13-2
7Central Nervous System Depressants12806
8Antidepressive Agents2666
9Antimanic Agents790
10CitrateNutraceutical1106
11
Citric Acidnutraceutical, vet_approved110677-92-9311
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
1Growth Hormone for Osteoporosis Pseudoglioma SyndromeUnknown statusNCT01614171
2Trial of Lithium Carbonate for Treatment of Osteoporosis-pseudoglioma SyndromeCompletedNCT01108068

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 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 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:

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 20)
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)duplicationPathogenicrs886043590GRCh37Chr 11, 68181390: 68181390
3LRP5NM_002335.3(LRP5): c.1655C> T (p.Thr552Met)SNVPathogenicrs397514663GRCh37Chr 11, 68171021: 68171021
4LRP5NM_002335.3(LRP5): c.1145C> T (p.Pro382Leu)SNVPathogenicrs397514664GRCh37Chr 11, 68153913: 68153913
5LRP5NM_002335.3(LRP5): c.731C> T (p.Thr244Met)SNVPathogenicrs397514665GRCh37Chr 11, 68131259: 68131259
6LRP5NM_002335.3(LRP5): c.4600C> T (p.Arg1534Ter)SNVPathogenicrs149645175GRCh37Chr 11, 68216290: 68216290
7LRP5LRP5, IVS7, G-A, +1SNVPathogenicChr na, -1: -1
8LRP5LRP5, 7.2-KB DEL, EXONS 22-23deletionPathogenicChr na, -1: -1
9LRP5NM_002335.3(LRP5): c.29G> A (p.Trp10Ter)SNVPathogenicrs121908660GRCh37Chr 11, 68080211: 68080211
10LRP5NM_002335.3(LRP5): c.1282C> T (p.Arg428Ter)SNVPathogenicrs121908661GRCh37Chr 11, 68154050: 68154050
11LRP5LRP5, 1-BP DEL, 1467GdeletionPathogenicChr na, -1: -1
12LRP5NM_002335.3(LRP5): c.2151dupT (p.Asp718Terfs)duplicationPathogenicrs121908662GRCh37Chr 11, 68177441: 68177441
13LRP5NM_002335.3(LRP5): c.2557C> T (p.Gln853Ter)SNVPathogenicrs121908663GRCh37Chr 11, 68181210: 68181210
14LRP5LRP5, 1-BP DEL, 3804AdeletionPathogenicChr na, -1: -1
15LRP5NM_002335.3(LRP5): c.1481G> A (p.Arg494Gln)SNVPathogenicrs121908664GRCh37Chr 11, 68157417: 68157417
16LRP5NM_002335.3(LRP5): c.1708C> T (p.Arg570Trp)SNVPathogenicrs121908665GRCh37Chr 11, 68171074: 68171074
17LRP5NM_002335.3(LRP5): c.1453G> T (p.Glu485Ter)SNVPathogenicrs121908666GRCh37Chr 11, 68157389: 68157389
18LRP5NM_002335.3(LRP5): c.2202G> A (p.Trp734Ter)SNVPathogenicrs121908667GRCh37Chr 11, 68177492: 68177492
19LRP5LRP5, 1-BP DEL, 2305GdeletionPathogenicChr na, -1: -1
20LRP5NM_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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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
1clathrin-coated endocytic vesicle membraneGO:003066910.0FZD4, LDLR
2clathrin-coated pitGO:00059059.9LDLR, VLDLR
3Wnt signalosomeGO:19909099.7CTNNB1, LRP5
4apical part of cellGO:00451779.6CTNNB1, LDLR, VLDLR
5cell surfaceGO:00099869.2FZD4, LDLR, NDP, VLDLR
6receptor complexGO:00432358.4LDLR, LRP5, LRP8, VLDLR

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

(show all 24)
idNameGO IDScoreTop Affiliating Genes
1beta-catenin destruction complex disassemblyGO:190488610.4CTNNB1, LRP5
2embryonic digit morphogenesisGO:004273310.4CTNNB1, LRP5
3gastrulation with mouth forming secondGO:000170210.4CTNNB1, LRP5
4positive regulation of mesenchymal cell proliferationGO:000205310.4CTNNB1, LRP5
5retinal blood vessel morphogenesisGO:006130410.3FZD4, LRP5
6vasculature developmentGO:000194410.3CTNNB1, LRP5
7regulation of canonical Wnt signaling pathwayGO:006082810.3KREMEN1, LRP5
8cholesterol homeostasisGO:004263210.2LDLR, LRP5
9vasculogenesisGO:000157010.2CTNNB1, FZD4
10extracellular matrix-cell signalingGO:003542610.1FZD4, LRP5, NDP
11retina vasculature morphogenesis in camera-type eyeGO:006129910.0FZD4, LRP5, NDP
12cellular response to growth factor stimulusGO:00713639.9CTNNB1, LRP8
13cerebral cortex developmentGO:00219879.9LRP8, VLDLR
14positive regulation of dendrite developmentGO:19000069.9LRP8, VLDLR
15reelin-mediated signaling pathwayGO:00380269.8LRP8, VLDLR
16cholesterol metabolic processGO:00082039.7LDLR, LRP5, VLDLR
17canonical Wnt signaling pathwayGO:00600709.6CTNNB1, FZD4, LRP5, NDP
18positive regulation of sequence-specific DNA binding transcription factor activityGO:00510919.6CTNNB1, FZD4, LRP5, NDP
19Wnt signaling pathway, calcium modulating pathwayGO:00072239.6CTNNB1, FZD4
20positive regulation of transcription, DNA-templatedGO:00458939.6CTNNB1, FZD4, LRP5, NDP
21endocytosisGO:00068979.4LDLR, LRP5, LRP8
22response to drugGO:00424939.3CTNNB1, LRP8, VLDLR
23receptor-mediated endocytosisGO:00068989.2LDLR, LRP8, VLDLR
24Wnt signaling pathwayGO:00160558.8CTNNB1, 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
2glycoprotein bindingGO:00019489.8LDLR, VLDLR
3Wnt-protein bindingGO:00171479.7FZD4, LRP5
4apolipoprotein bindingGO:00341859.7LRP8, VLDLR
5reelin receptor activityGO:00380259.6LRP8, VLDLR
6low-density lipoprotein receptor activityGO:00050419.0LDLR, LRP8, VLDLR
7very-low-density lipoprotein particle receptor activityGO:00302299.0LDLR, LRP8, VLDLR

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