MCID: OST024
MIFTS: 52

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 schizophrenia and neuroblastoma, 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 lung, 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 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

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, Lung, Colon, T cells

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
Case images: A rare variation in drainage of total anomalous pulmonary venous return. (26536995)
2015
2
Inter- and intra-lesional molecular heterogeneity of oral leukoplakia. (25467776)
2015
3
Bone metastasis in primary endometrial carcinoma: features, outcomes, and predictors. (24343098)
2014
4
miR-222 regulates the cell biological behavior of oral squamous cell carcinoma by targeting PUMA. (24452416)
2014
5
Repeatedly recurrent colon cancer involving the appendiceal orifice after endoscopic piecemeal mucosal resection: a case report. (23756672)
2013
6
Results of long-term follow-up of patients with superficial bladder carcinoma treated with intravesically applied bacillus Calmette-Guerin vaccine according to the schedule of 6 weekly + 6 monthly instillations. (20843705)
2012
7
Multisystemic Langerhans cell histiocytosis with advanced lung involvement. (23372865)
2012
8
Drug induced interstitial lung disease. (22896776)
2012
9
Correlation of cytotoxic effect of transmembrane and secretory TNF-I+ to cell cycle. (23271277)
2012
10
A preliminary report on the significance of excessively long segment congenital hypoganglionosis management during early infancy. (21843726)
2011
11
An examination of decision making in bulimia nervosa. (18720180)
2009
12
Independent and combined effects of aerobic exercise and pharmacological strategies on serum triglyceride concentrations: a qualitative review. (20048483)
2009
13
Role of trehalose-6P phosphatase (TPS2) in stress tolerance and resistance to macrophage killing in Candida albicans. (19231283)
2009
14
Useful markers for differential diagnosis of oncocytoma, chromophobe renal cell carcinoma and conventional renal cell carcinoma. (18603673)
2008
15
Raptor-rictor axis in TGFbeta-induced protein synthesis. (18068336)
2008
16
Erythema multiforme associated with resolving molluscum contagiosum. (17137481)
2007
17
Platelet activation during haemodialysis: comparison of cuprammonium rayon and polysulfone membranes. (17890860)
2007
18
Effect of cervical traction on cardiovascular and selected ECG variables of cervical spondylosis patients using various weights. (16794641)
2006
19
Prenatal gene diagnosis of oculocutaneous albinism type I]. (16767664)
2006
20
Extensive nodular cutaneous amyloidosis: an unusual presentation. (15987299)
2005
21
Do we have any good reason to suggest restricting the use of oral contraceptives in women with pre-existing Vitamin B12 deficiency? (15262365)
2004
22
Retinoids assist the cellular folding of the autosomal dominant retinitis pigmentosa opsin mutant P23H. (14769795)
2004
23
Impaired blockade of insulin-like growth factor I (IGF-I)-induced hypoglycemia by IGF binding protein-3 analog with reduced ternary complex-forming ability. (11956148)
2002
24
Study on a downstream signal molecule of human CASK/LIN-2]. (11110977)
2000
25
1-Cys peroxiredoxin, a bifunctional enzyme with glutathione peroxidase and phospholipase A2 activities. (10893423)
2000
26
Development of ideas on renovascular hypertension. (11022890)
2000
27
Changes in the cytokine concentration during immunotherapy of superficial bladder tumors]. (9451905)
1998
28
Characterization of hepatic-specific regulatory elements in the promoter region of the human cholesterol 7alpha-hydroxylase gene. (9013589)
1997
29
Determinants of apamin and d-tubocurarine block in SK potassium channels. (9287325)
1997
30
Noise-free chemiluminescent detection of human T cell receptor and interleukin-2 receptor genes after optimization of digoxigenin labeled probe concentration. (7601486)
1995
31
A central role for IL-1 beta in the in vitro and in vivo regulation of hepatic inducible nitric oxide synthase. IL-1 beta induces hepatic nitric oxide synthesis. (7594493)
1995
32
Proton ATPases and urinary acidification. (7873748)
1994
33
The mapping of seven intron-containing ribosomal protein genes shows they are unlinked in the human genome. (1577483)
1992
34
ELAM-1 mediates cell adhesion by recognition of a carbohydrate ligand, sialyl-Lex. (1701274)
1990
35
Antagonism of the enhanced susceptibility to audiogenic seizures during alcohol withdrawal in the rat by gamma-aminobutyric acid (GABA) and "GABA-mimetic" agents. (220408)
1979
36
Hepatic ascariasis. A case report and review of the literature. (4829790)
1974
37
Melkersson-Rosenthal syndrome. Report of two cases. (5265877)
1970
38
Tuberculous empyema of the pleura; recent experience. (13196852)
1954

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