OPS
MCID: OST024
MIFTS: 53

Osteoporosis-Pseudoglioma Syndrome (OPS) malady

Neuronal diseases, Eye diseases, Bone diseases, Fetal diseases categories

Summaries for Osteoporosis-Pseudoglioma Syndrome

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21Genetics Home Reference, 46OMIM, 32MalaCards
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Genetics Home Reference:21 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: Osteoporosis-Pseudoglioma Syndrome, also known as osteoporosis pseudoglioma syndrome, is related to retinal detachment and exudative vitreoretinopathy, and has symptoms including short stature/dwarfism/nanism, micrognathia/retrognathia/micrognathism/retrognathism and optic nerve anomaly/optic atrophy/anomaly of the papilla. An important gene associated with Osteoporosis-Pseudoglioma Syndrome is LRP5 (low density lipoprotein receptor-related protein 5), and among its related pathways are MicroRNAs in cardiomyocyte hypertrophy and N-cadherin signaling events. The compound phosphotyrosine have been mentioned in the context of this disorder. Affiliated tissues include bone and eye, and related mouse phenotypes are hearing/vestibular/ear and pigmentation.

Description from OMIM:46 259770

Aliases & Classifications for Osteoporosis-Pseudoglioma Syndrome

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Sources:
42NIH Rare Diseases, 21Genetics Home Reference, 46OMIM, 44Novoseek, 48Orphanet, 20GeneTests, 22GTR, 60UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet, 25ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases
Anatomical: Neuronal diseases, Eye diseases, Bone diseases


Characteristics (Orphanet epidemiological data):

48
oppg:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Childhood


Aliases & Descriptions:

osteoporosis-pseudoglioma syndrome 42 21 46 44
osteoporosis pseudoglioma syndrome 42 20 22
oppg 42 21 48
ocular form of osteogenesis imperfecta 48
osteogenesis imperfecta, ocular form 21
osteogenesis imperfecta ocular form 42
pseudoglioma with bone fragility 42
osteoporosis with pseudoglioma 60
osteoporosis - pseudoglioma 48
ops 42


External Ids:

OMIM46 259770
MESH via Orphanet35 C536063
ICD10 via Orphanet26 Q87.5
SNOMED-CT via Orphanet57 254112001
UMLS via Orphanet61 C0432252

Related Diseases for Osteoporosis-Pseudoglioma Syndrome

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Sources:
17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Osteoporosis-Pseudoglioma Syndrome:



Diseases related to osteoporosis-pseudoglioma syndrome

Clinical Features for Osteoporosis-Pseudoglioma Syndrome

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46OMIM, 48Orphanet
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Clinical features from OMIM:

259770

Clinical synopsis from OMIM:

259770

Symptoms:

48 (show all 21)
  • 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
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • pupillary anomalies/mydriasis/myosis/tonic pupil
  • autosomal recessive inheritance
  • 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
  • anophthalmos/anophthalmia/microphthalmos/microphthalmia

Drugs & Therapeutics for Osteoporosis-Pseudoglioma Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Osteoporosis-Pseudoglioma Syndrome

Drug clinical trials:

Search ClinicalTrials for Osteoporosis-Pseudoglioma Syndrome

Search NIH Clinical Center for Osteoporosis-Pseudoglioma Syndrome

Search CenterWatch for Osteoporosis-Pseudoglioma Syndrome

Genetic Tests for Osteoporosis-Pseudoglioma Syndrome

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Sources:
20GeneTests, 22GTR
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Genetic tests related to Osteoporosis-Pseudoglioma Syndrome:

id Genetic test Affiliating Genes
1 Osteoporosis Pseudoglioma Syndrome20 LRP5
2 Osteoporosis with Pseudoglioma22

Anatomical Context for Osteoporosis-Pseudoglioma Syndrome

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32MalaCards
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MalaCards organs/tissues related to Osteoporosis-Pseudoglioma Syndrome:

32
Bone, Eye

Animal Models for Osteoporosis-Pseudoglioma Syndrome or affiliated genes

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Sources:
36MGI
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MGI Mouse Phenotypes related to Osteoporosis-Pseudoglioma Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.8FZD4, CTNNB1, NDP
2MP:00011868.6LRP5, FZD4, CTNNB1, NDP
3MP:00053918.4LRP5, FZD4, CTNNB1, NDP
4MP:00053908.0KREMEN1, LRP5, CTNNB1, NDP
5MP:00053867.9NDP, CTNNB1, FZD4, LRP8, LRP5
6MP:00028737.8CTNNB1, FZD4, LRP8, LRP5, KREMEN1
7MP:00053897.8KREMEN1, LRP8, FZD4, CTNNB1, NDP
8MP:00036317.7NDP, CTNNB1, FZD4, LRP8, LRP5

Publications for Osteoporosis-Pseudoglioma Syndrome

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Genetic Variations for Osteoporosis-Pseudoglioma Syndrome

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Osteoporosis-Pseudoglioma Syndrome:

62 (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

Expression for genes affiliated with Osteoporosis-Pseudoglioma Syndrome

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Osteoporosis-Pseudoglioma Syndrome

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

Pathways for genes affiliated with Osteoporosis-Pseudoglioma Syndrome

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Sources:
37NCBI BioSystems Database, 55SinoBiological, 12EMD Millipore, 51QIAGEN, 53Reactome, 29KEGG, 52R&D Systems
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Compounds for genes affiliated with Osteoporosis-Pseudoglioma Syndrome

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44Novoseek
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Compounds related to Osteoporosis-Pseudoglioma Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1phosphotyrosine448.6LRP8, FZD4, CTNNB1

GO Terms for genes affiliated with Osteoporosis-Pseudoglioma Syndrome

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Sources:
16Gene Ontology
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Cellular components related to Osteoporosis-Pseudoglioma Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cell-cell junctionGO:0059119.2FZD4, CTNNB1

Biological processes related to Osteoporosis-Pseudoglioma Syndrome according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1retinal blood vessel morphogenesisGO:0613049.8LRP5, FZD4
2extracellular matrix-cell signalingGO:0354269.8FZD4, NDP
3retina vasculature morphogenesis in camera-type eyeGO:0612999.8NDP, FZD4
4regulation of canonical Wnt receptor signaling pathwayGO:0608289.7KREMEN1, LRP5
5positive regulation of sequence-specific DNA binding transcription factor activityGO:0510919.6FZD4, NDP
6gastrulation with mouth forming secondGO:0017029.3CTNNB1, LRP5
7positive regulation of mesenchymal cell proliferationGO:0020539.2LRP5, CTNNB1
8embryonic limb morphogenesisGO:0303269.0LRP5, CTNNB1
9canonical Wnt receptor signaling pathwayGO:0600708.6NDP, CTNNB1, FZD4, LRP5
10positive regulation of transcription, DNA-dependentGO:0458938.5LRP5, FZD4, CTNNB1, NDP
11Wnt receptor signaling pathwayGO:0160558.1KREMEN1, LRP5, FZD4, CTNNB1, NDP

Molecular functions related to Osteoporosis-Pseudoglioma Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1Wnt-protein bindingGO:0171479.6LRP5, FZD4
2Wnt-activated receptor activityGO:0428139.3LRP5, FZD4

Products for genes affiliated with Osteoporosis-Pseudoglioma Syndrome

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  • Antibodies
  • Proteins
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Sources for Osteoporosis-Pseudoglioma Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet