MCID: OST024
MIFTS: 56

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:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 23Genetics Home Reference, 47Novoseek, 51Orphanet, 67UniProtKB/Swiss-Prot, 22GeneTests, 24GTR, 65UMLS, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH, 27ICD10, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Osteoporosis-Pseudoglioma Syndrome:

Name: Osteoporosis-Pseudoglioma Syndrome 49 11 45 23 47 51 67
Oppg 45 23 51 67
Osteoporosis Pseudoglioma Syndrome 45 22 24
Osteogenesis Imperfecta, Ocular Form 22 23
Osteogenesis Imperfecta Ocular Form 45 67
 
Ops 45 67
Ocular Form of Osteogenesis Imperfecta 51
Pseudoglioma with Bone Fragility 45
Osteoporosis with Pseudoglioma 65

Characteristics:

Orphanet epidemiological data:

51
osteoporosis-pseudoglioma syndrome:
Inheritance: Autosomal recessive; Age of onset: Childhood

HPO:

61
osteoporosis-pseudoglioma syndrome:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 259770
Orphanet51 2788
ICD10 via Orphanet28 Q87.5
MESH via Orphanet37 C536063
UMLS via Orphanet66 C0432252
MedGen34 C0432252
MeSH36 D010013
UMLS65 C0432252

Summaries for Osteoporosis-Pseudoglioma Syndrome

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Genetics Home Reference:23 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 aplasia/hypoplasia affecting the eye, bowing of the long bones and reduced bone mineral density. 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 Negative regulation of TCF-dependent signaling by WNT ligand antagonists. Affiliated tissues include bone, eye and thymus, and related mouse phenotypes are hearing/vestibular/ear and pigmentation.

UniProtKB/Swiss-Prot:67 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:49 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 for Osteoporosis-Pseudoglioma Syndrome

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Symptoms by clinical synopsis from OMIM:

259770

Clinical features from OMIM:

259770

Symptoms:

 51 (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 40)
id Description Frequency HPO Source Accession
1 aplasia/hypoplasia affecting the eye hallmark (90%) HP:0008056
2 bowing of the long bones hallmark (90%) HP:0006487
3 reduced bone mineral density hallmark (90%) HP:0004349
4 abnormal form of the vertebral bodies hallmark (90%) HP:0003312
5 recurrent fractures hallmark (90%) HP:0002757
6 delayed skeletal maturation hallmark (90%) HP:0002750
7 joint hypermobility hallmark (90%) HP:0001382
8 muscular hypotonia hallmark (90%) HP:0001252
9 cataract hallmark (90%) HP:0000518
10 visual impairment hallmark (90%) HP:0000505
11 cognitive impairment typical (50%) HP:0100543
12 short stature typical (50%) HP:0004322
13 abnormality of the pupil typical (50%) HP:0000615
14 abnormal hair quantity occasional (7.5%) HP:0011362
15 depressed nasal bridge occasional (7.5%) HP:0005280
16 kyphosis occasional (7.5%) HP:0002808
17 low posterior hairline occasional (7.5%) HP:0002162
18 obesity occasional (7.5%) HP:0001513
19 optic atrophy occasional (7.5%) HP:0000648
20 micrognathia occasional (7.5%) HP:0000347
21 glioma HP:0009733
22 absent anterior eye chamber HP:0008037
23 vitreoretinopathy HP:0007773
24 short stature HP:0004322
25 metaphyseal widening HP:0003016
26 pathologic fracture HP:0002756
27 kyphoscoliosis HP:0002751
28 ventricular septal defect HP:0001629
29 barrel-shaped chest HP:0001552
30 joint hypermobility HP:0001382
31 intellectual disability, mild HP:0001256
32 muscular hypotonia HP:0001252
33 iris atrophy HP:0001089
34 osteoporosis HP:0000939
35 platyspondyly HP:0000926
36 phthisis bulbi HP:0000667
37 blindness HP:0000618
38 microphthalmia HP:0000568
39 cataract HP:0000518
40 microcephaly HP:0000252

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
1Psychotropic Drugs5501
2Tranquilizing Agents3597
3Antidepressive Agents2367
4Lithium Carbonate211
5Central Nervous System Depressants10016
6Antimanic Agents663
7Hormones, Hormone Substitutes, and Hormone Antagonists9988
8Hormones11748
9Hormone Antagonists10002
10
Citric Acidnutraceutical100177-92-9311
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
11CitrateNutraceutical1001

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 Pseudoglioma Syndrome22 LRP5

Anatomical Context for Osteoporosis-Pseudoglioma Syndrome

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MalaCards organs/tissues related to Osteoporosis-Pseudoglioma Syndrome:

33
Bone, Eye, Thymus, Retina, Colon, Skin, Lung

Animal Models for Osteoporosis-Pseudoglioma Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Osteoporosis-Pseudoglioma Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.9CTNNB1, FZD4, NDP
2MP:00011868.7CTNNB1, FZD4, LRP5, NDP
3MP:00053918.6CTNNB1, FZD4, LRP5, NDP
4MP:00028737.8CTNNB1, FZD4, KREMEN1, LRP5, LRP8
5MP:00053897.7CTNNB1, FZD4, KREMEN1, LRP8, NDP
6MP:00053867.6CTNNB1, FZD4, LRP5, LRP8, NDP
7MP:00036317.5CTNNB1, FZD4, LRP5, LRP8, NDP

Publications for Osteoporosis-Pseudoglioma Syndrome

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Articles related to Osteoporosis-Pseudoglioma Syndrome:

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

67 (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:

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 17)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.5FZD4, LRP5
2
Show member pathways
9.5KREMEN1, LRP5
39.4CTNNB1, LRP5
49.4CTNNB1, LRP5
59.3CTNNB1, FZD4
69.0FZD4, KREMEN1, LRP5
7
Show member pathways
8.9CTNNB1, FZD4, LRP5
88.9CTNNB1, FZD4, LRP5
9
Show member pathways
8.9CTNNB1, FZD4, LRP5
10
Show member pathways
8.9CTNNB1, FZD4, LRP5
11
Show member pathways
8.9CTNNB1, FZD4, NDP
12
Show member pathways
8.4CTNNB1, FZD4, KREMEN1, LRP5
13
Show member pathways
8.4CTNNB1, FZD4, KREMEN1, LRP5
148.4CTNNB1, FZD4, KREMEN1, LRP5
15
Show member pathways
8.4CTNNB1, FZD4, KREMEN1, LRP5
16
Show member pathways
8.4CTNNB1, FZD4, KREMEN1, LRP5
178.1CTNNB1, FZD4, LRP5, LRP8

GO Terms for genes affiliated with Osteoporosis-Pseudoglioma Syndrome

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1gastrulation with mouth forming secondGO:00017029.9CTNNB1, LRP5
2embryonic digit morphogenesisGO:00427339.8CTNNB1, LRP5
3Wnt signaling pathway, calcium modulating pathwayGO:00072239.7CTNNB1, FZD4
4positive regulation of sequence-specific DNA binding transcription factor activityGO:00510919.6CTNNB1, FZD4
5beta-catenin destruction complex disassemblyGO:19048869.6CTNNB1, LRP5
6neuron differentiationGO:00301829.6CTNNB1, FZD4
7sensory perception of soundGO:00076059.4FZD4, NDP
8canonical Wnt signaling pathwayGO:00600708.6CTNNB1, FZD4, LRP5, NDP
9Wnt signaling pathwayGO:00160558.6FZD4, KREMEN1, LRP5, NDP

Sources for Osteoporosis-Pseudoglioma Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet