OPPG
MCID: OST024
MIFTS: 60

Osteoporosis-Pseudoglioma Syndrome (OPPG)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Osteoporosis-Pseudoglioma Syndrome

MalaCards integrated aliases for Osteoporosis-Pseudoglioma Syndrome:

Name: Osteoporosis-Pseudoglioma Syndrome 57 11 19 42 58 73 12 53 43 14 38 75
Oppg 57 11 19 42 58 73
Osteoporosis with Pseudoglioma 28 5 71
Ops 57 19 73
Ocular Form of Osteogenesis Imperfecta 11 58
Osteogenesis Imperfecta, Ocular Form 57 42
Osteogenesis Imperfecta Ocular Form 19 73
Osteoporosis Pseudoglioma Syndrome 19
Pseudoglioma with Bone Fragility 19

Characteristics:


Inheritance:

Autosomal recessive 58 57

Age Of Onset:

Childhood 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset of bone fragility in childhood


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Osteoporosis-Pseudoglioma Syndrome

MedlinePlus Genetics: 42 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).Most affected individuals have impaired vision at birth or by early infancy and are blind by young adulthood. Vision problems are usually caused by one of several eye conditions, grouped together as pseudoglioma, that affect the light-sensitive tissue at the back of the eye (the retina), although other eye conditions have been identified in affected individuals. Pseudogliomas are so named because, on examination, the conditions resemble an eye tumor known as a retinal glioma.Rarely, people with osteoporosis-pseudoglioma syndrome have additional signs or symptoms such as mild intellectual disability, weak muscle tone (hypotonia), abnormally flexible joints, or seizures.

MalaCards based summary: Osteoporosis-Pseudoglioma Syndrome, also known as oppg, is related to retinal detachment and vitreoretinopathy. An important gene associated with Osteoporosis-Pseudoglioma Syndrome is LRP5 (LDL Receptor Related Protein 5), and among its related pathways/superpathways are Signal Transduction and RAF/MAP kinase cascade. The drugs Lithium carbonate and Sodium citrate have been mentioned in the context of this disorder. Affiliated tissues include bone, eye and retina, and related phenotypes are osteoporosis and increased susceptibility to fractures

UniProtKB/Swiss-Prot: 73 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, intellectual disability and hypotonia.

Disease Ontology: 11 A syndrome characterized by congenital or infancy-onset blindness, very low bone mass, decreased trabecular bone volume, severe juvenile-onset osteoporosis and spontaneous fractures, pseudoglioma, microphthalmia that has material basis in homozygous or compound heterozygous mutation in the LRP5 gene on chromosome 11q13.

GARD: 19 Osteoporosis pseudoglioma syndrome is a very rare autosomal recessive disorder characterized by congenital or infancy-onset blindness and severe juvenile-onset osteoporosis and spontaneous fractures.

Orphanet: 58 Osteoporosis pseudoglioma syndrome is a very rare autosomal recessive disorder characterized by congenital or infancy-onset blindness and severe juvenile-onset osteoporosis and spontaneous fractures.

Wikipedia: 75 Osteoporosis-pseudoglioma syndrome or OPGG is a rare genetic condition which is characterized by... more...

More information from OMIM: 259770

Related Diseases for Osteoporosis-Pseudoglioma Syndrome

Diseases related to Osteoporosis-Pseudoglioma Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 76)
# Related Disease Score Top Affiliating Genes
1 retinal detachment 30.7 NDP LRP5 FZD4 CTNNB1
2 vitreoretinopathy 30.6 NDP LRP5 FZD4 CTNNB1
3 persistent hyperplastic primary vitreous 30.6 NDP LRP5 FZD4
4 coats disease 30.4 NDP LRP5 FZD4
5 exudative vitreoretinopathy 1 30.0 VLDLR NDP LRP5 FZD4 CTNNB1
6 sclerosteosis 1 29.9 SP7 SOST
7 norrie disease 29.8 WNT4 WNT3A WNT16 WNT10B WNT1 NDP
8 bone disease 29.7 TNFSF11 SP7 SOST LRP5 DKK1
9 osteoporosis, juvenile 29.3 WNT3A WNT1 TNFSF11 SP7 SOST LRP5
10 osteoporosis 28.6 WNT3A WNT16 WNT1 TNFSF11 SP7 SOST
11 exudative vitreoretinopathy 28.4 WNT4 WNT3A WNT16 WNT10B WNT1 NDP
12 brittle bone disorder 28.1 WNT3A WNT16 WNT10B WNT1 TNFSF11 SP7
13 sclerosteosis 27.3 WNT3A WNT16 WNT10B WNT1 TNFSF11 SP7
14 van buchem disease 27.3 WNT3A WNT16 WNT10B WNT1 TNFSF11 SP7
15 bone mineral density quantitative trait locus 8 11.0
16 bone mineral density quantitative trait locus 15 11.0
17 bone mineral density quantitative trait locus 3 10.4
18 microphthalmia 10.4
19 persistent hyperplastic primary vitreous, autosomal recessive 10.3
20 hypotonia 10.3
21 bone mineral density quantitative trait locus 16 10.2
22 blind hypotensive eye 10.2
23 cataract 10.2
24 leukocoria 10.2 NDP LRP5 FZD4
25 hyperostosis 10.2 SOST LRP5 KREMEN1
26 retinal telangiectasia 10.2 NDP LRP5 FZD4
27 sclerosteosis 2 10.2 SOST LRP5 KREMEN1
28 osteopetrosis, autosomal dominant 1 10.1 LRP6 LRP5 DKK1
29 osteopathia striata with cranial sclerosis 10.1 SOST LRP6 LRP5
30 cenani-lenz syndactyly syndrome 10.1 SOST LRP6 LRP5
31 osteogenesis imperfecta, type xv 10.1 WNT1 SOST LRP5
32 hypotrichosis simplex 10.1 WNT3A LRP5
33 osteogenesis imperfecta, type iii 10.1
34 isolated microphthalmia 10.1
35 ehlers-danlos syndrome 10.1
36 ventricular septal defect 10.1
37 heart septal defect 10.1
38 retinal vascular disease 10.1
39 connective tissue disease 10.1
40 collagen disease 10.1
41 chronic bilirubin encephalopathy 10.1
42 craniodiaphyseal dysplasia 10.1 SP7 SOST LRP5
43 polycystic liver disease 10.0 LRP6 LRP5 CTNNB1
44 cerebellar hypoplasia 10.0 WNT1 VLDLR LRP8
45 camurati-engelmann disease 10.0 SP7 SOST LRP5
46 diffuse idiopathic skeletal hyperostosis 10.0 SOST DKK1
47 androgenic alopecia 10.0 WNT10B DKK1 CTNNB1
48 spinocerebellar ataxia 37 9.9 VLDLR LRP8
49 enterobiasis 9.9 LRP6 CTNNB1 AXIN1
50 tetraamelia syndrome 9.9 WNT3A WNT10B SOST LRP5

Graphical network of the top 20 diseases related to Osteoporosis-Pseudoglioma Syndrome:



Diseases related to Osteoporosis-Pseudoglioma Syndrome

Symptoms & Phenotypes for Osteoporosis-Pseudoglioma Syndrome

Human phenotypes related to Osteoporosis-Pseudoglioma Syndrome:

58 30 (show top 50) (show all 54)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 osteoporosis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000939
2 increased susceptibility to fractures 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002659
3 osteopenia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000938
4 corneal opacity 58 30 Frequent (33%) Frequent (79-30%)
HP:0007957
5 waddling gait 58 30 Frequent (33%) Frequent (79-30%)
HP:0002515
6 joint laxity 58 30 Frequent (33%) Frequent (79-30%)
HP:0001388
7 retinal detachment 58 30 Frequent (33%) Frequent (79-30%)
HP:0000541
8 crumpled long bones 58 30 Frequent (33%) Frequent (79-30%)
HP:0006367
9 metaphyseal widening 58 30 Frequent (33%) Frequent (79-30%)
HP:0003016
10 severely reduced visual acuity 58 30 Frequent (33%) Frequent (79-30%)
HP:0001141
11 infantile muscular hypotonia 58 30 Frequent (33%) Frequent (79-30%)
HP:0008947
12 congenital blindness 58 30 Frequent (33%) Frequent (79-30%)
HP:0007875
13 exudative retinopathy 58 30 Frequent (33%) Frequent (79-30%)
HP:0007898
14 angle closure glaucoma 58 30 Frequent (33%) Frequent (79-30%)
HP:0012109
15 exudative vitreoretinopathy 58 30 Frequent (33%) Frequent (79-30%)
HP:0030490
16 loss of ambulation 30 Frequent (33%) HP:0002505
17 low serum calcitriol 30 Frequent (33%) HP:0012052
18 frontal bossing 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002007
19 global developmental delay 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001263
20 delayed speech and language development 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000750
21 short stature 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0004322
22 microphthalmia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000568
23 wormian bones 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002645
24 delayed gross motor development 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002194
25 congenital nystagmus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0006934
26 visual acuity light perception with projection 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0030551
27 abnormal femoral neck/head morphology 30 Occasional (7.5%) HP:0003366
28 preauricular skin tag 58 30 Very rare (1%) Very rare (<4-1%)
HP:0000384
29 blue sclerae 58 30 Very rare (1%) Very rare (<4-1%)
HP:0000592
30 abnormality of cardiovascular system morphology 58 30 Very rare (1%) Very rare (<4-1%)
HP:0030680
31 isosexual precocious puberty 58 30 Very rare (1%) Very rare (<4-1%)
HP:0008236
32 moderately reduced visual acuity 58 30 Very rare (1%) Very rare (<4-1%)
HP:0030515
33 hypotonia 30 HP:0001252
34 cataract 30 HP:0000518
35 microcephaly 30 HP:0000252
36 blindness 30 HP:0000618
37 intellectual disability, mild 30 HP:0001256
38 kyphoscoliosis 30 HP:0002751
39 joint hypermobility 30 HP:0001382
40 platyspondyly 30 HP:0000926
41 glioma 30 HP:0009733
42 ventricular septal defect 30 HP:0001629
43 abnormal vitreous humor morphology 58 Frequent (79-30%)
44 phthisis bulbi 30 HP:0000667
45 loss of ability to walk 58 Frequent (79-30%)
46 generalized hypotonia 30 HP:0001290
47 abnormality of the femoral neck or head region 58 Occasional (29-5%)
48 pathologic fracture 30 HP:0002756
49 vitreoretinopathy 30 HP:0007773
50 iris atrophy 30 HP:0001089

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Neurologic Central Nervous System:
hypotonia
mental retardation, mild
normal intelligence in most cases

Head And Neck Head:
microcephaly

Skeletal Spine:
kyphoscoliosis
platyspondyly

Skeletal Limbs:
hyperextensible joints
wide metaphyses
narrow diaphyses
long bone deformities

Skeletal:
spontaneous fracture
osteoporosis (onset in childhood)

Head And Neck Eyes:
cataract
microphthalmia
phthisis bulbi
iris atrophy
pseudoglioma
more
Growth Height:
short stature

Cardiovascular Heart:
ventricular septal defect

Chest External Features:
barrel chest

Skeletal Skull:
intraocular calcification

Clinical features from OMIM®:

259770 (Updated 08-Dec-2022)

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 9.17 FZD4 KREMEN1 LDLR LRP5 LRP6 VLDLR

MGI Mouse Phenotypes related to Osteoporosis-Pseudoglioma Syndrome:

45 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.37 AXIN1 CTNNB1 DKK1 FZD4 LDLR LRP5
2 normal MP:0002873 10.33 AXIN1 CTNNB1 FZD4 KREMEN1 LDLR LRP5
3 limbs/digits/tail MP:0005371 10.29 AXIN1 CTNNB1 DKK1 KREMEN1 LRP5 LRP6
4 growth/size/body region MP:0005378 10.29 AXIN1 CTNNB1 DKK1 FZD4 LDLR LRP5
5 cellular MP:0005384 10.22 AXIN1 CTNNB1 DKK1 FZD4 LDLR LRP5
6 no phenotypic analysis MP:0003012 10.19 CTNNB1 FZD4 LDLR LRP6 NDP TNFSF11
7 embryo MP:0005380 10.16 AXIN1 CTNNB1 DKK1 FZD4 LRP5 LRP6
8 behavior/neurological MP:0005386 10.15 AXIN1 CTNNB1 FZD4 LDLR LRP5 LRP6
9 hearing/vestibular/ear MP:0005377 10.04 AXIN1 CTNNB1 FZD4 LRP6 NDP WNT1
10 pigmentation MP:0001186 10.03 CTNNB1 FZD4 LDLR LRP5 NDP VLDLR
11 craniofacial MP:0005382 10.03 AXIN1 CTNNB1 DKK1 LRP5 LRP6 TNFSF11
12 skeleton MP:0005390 10.03 AXIN1 CTNNB1 DKK1 KREMEN1 LRP5 LRP6
13 reproductive system MP:0005389 10 AXIN1 CTNNB1 FZD4 KREMEN1 LRP6 LRP8
14 respiratory system MP:0005388 9.92 AXIN1 CTNNB1 DKK1 LRP6 SP7 TNFSF11
15 vision/eye MP:0005391 9.61 CTNNB1 DKK1 FZD4 LDLR LRP5 LRP6
16 mortality/aging MP:0010768 9.47 AXIN1 CTNNB1 DKK1 FZD4 LDLR LRP5

Drugs & Therapeutics for Osteoporosis-Pseudoglioma Syndrome

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

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lithium carbonate Approved 554-13-2
2
Sodium citrate Approved, Investigational 68-04-2 23431961
3
Citric acid Approved, Nutraceutical, Vet_approved 77-92-9 311
4 Psychotropic Drugs
5 Antidepressive Agents
6 Citrate

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Trial of Lithium Carbonate for Treatment of Osteoporosis Pseudoglioma Syndrome Completed NCT01108068 Lithium
2 Trial of Growth Hormone for Osteoporosis Pseudoglioma Syndrome Withdrawn NCT01614171

Search NIH Clinical Center for Osteoporosis-Pseudoglioma Syndrome

Cochrane evidence based reviews: osteoporosis-pseudoglioma syndrome

Genetic Tests for Osteoporosis-Pseudoglioma Syndrome

Genetic tests related to Osteoporosis-Pseudoglioma Syndrome:

# Genetic test Affiliating Genes
1 Osteoporosis with Pseudoglioma 28 LRP5

Anatomical Context for Osteoporosis-Pseudoglioma Syndrome

Organs/tissues related to Osteoporosis-Pseudoglioma Syndrome:

MalaCards : Bone, Eye, Retina, Skin, Endothelial, Heart

Publications for Osteoporosis-Pseudoglioma Syndrome

Articles related to Osteoporosis-Pseudoglioma Syndrome:

(show top 50) (show all 136)
# Title Authors PMID Year
1
LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development. 62 57 5
11719191 2001
2
Various types of LRP5 mutations in four patients with osteoporosis-pseudoglioma syndrome: identification of a 7.2-kb microdeletion using oligonucleotide tiling microarray. 53 62 57
20034086 2010
3
Clinical and molecular findings in osteoporosis-pseudoglioma syndrome. 53 62 5
16252235 2005
4
Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13. 62 57
8659519 1996
5
Osteoporosis-pseudoglioma syndrome. 62 57
8418655 1993
6
Osteoporosis-pseudoglioma syndrome: clinical, morphological, and biochemical studies. 62 57
3172149 1988
7
Osteoporosis-pseudoglioma syndrome with congenital heart disease: a new association. 62 57
3351889 1988
8
Osteoporosis-pseudoglioma syndrome. 62 57
3698336 1986
9
Osteoporosis-pseudoglioma syndrome and the ocular form of osteogenesis imperfecta. 62 57
3698335 1986
10
Osteoporosis-pseudoglioma syndrome: report of three affected sibs and an overview. 62 57
3931475 1985
11
The ocular form of osteogenesis imperfecta: a new autosomal recessive syndrome. 62 57
4028503 1985
12
Autosomal recessive syndrome of pseudogliomantous blindness, osteoporosis and mild mental retardation. 62 57
1261071 1976
13
Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes. 5
15981244 2005
14
Ocular osteogenesis imperfecta. 57
3955877 1986
15
Osteoporosis-pseudoglioma or osteogenesis imperfecta? 57
3955875 1986
16
[Bilateral pseudo-glioma with generalized osteoporosis: an autosomal recessive disease]. 57
1025282 1976
17
Atypical osteogenesis imperfecta: Lobstein's disease. 57
13249697 1955
18
Low density lipoprotein receptor-related protein 5 (LRP5) mutations and osteoporosis, impaired glucose metabolism and hypercholesterolaemia. 53 62
19673927 2010
19
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. 53 62
19177549 2009
20
Osteoporosis-pseudoglioma syndrome: description of 9 new cases and beneficial response to bisphosphonates. 53 62
18602879 2008
21
Three years follow-up of pamidronate therapy in two brothers with osteoporosis-pseudoglioma syndrome (OPPG) carrying an LRP5 mutation. 53 62
18825883 2008
22
The binding between sclerostin and LRP5 is altered by DKK1 and by high-bone mass LRP5 mutations. 53 62
18521528 2008
23
A novel mutation in the LRP5 gene is associated with osteoporosis-pseudoglioma syndrome. 53 62
17437160 2007
24
Familial exudative vitreoretinopathy and osteoporosis-pseudoglioma syndrome caused by a mutation in the LRP5 gene. 53 62
17353424 2007
25
The Wnt co-receptor LRP5 is essential for skeletal mechanotransduction but not for the anabolic bone response to parathyroid hormone treatment. 53 62
16790443 2006
26
[Wnt-beta-catenin signaling in bone metabolism]. 53 62
16397351 2006
27
LRP5 mutations in osteoporosis-pseudoglioma syndrome and high-bone-mass disorders. 53 62
15850991 2005
28
Heterozygous mutations in the LDL receptor-related protein 5 (LRP5) gene are associated with primary osteoporosis in children. 53 62
15824851 2005
29
Association between bone mineral density and LDL receptor-related protein 5 gene polymorphisms in young Korean men. 53 62
15201508 2004
30
[Osteoporosis associated with gene mutation]. 53 62
15775238 2003
31
Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density. 53 62
12579474 2003
32
Cloning and expression of Xenopus Lrp5 and Lrp6 genes. 53 62
12204281 2002
33
Cbfa1-independent decrease in osteoblast proliferation, osteopenia, and persistent embryonic eye vascularization in mice deficient in Lrp5, a Wnt coreceptor. 53 62
11956231 2002
34
Osteoporosis-pseudoglioma syndrome in four new patients: identification of two novel LRP5 variants and insights on patients' management using bisphosphonates therapy. 62
35106624 2022
35
Evaluation of growth, puberty, osteoporosis, and the response to long-term bisphosphonate therapy in four patients with osteoporosis-pseudoglioma syndrome. 62
35393770 2022
36
Clinical Response to Treatment with Teriparatide in an Adolescent with Osteoporosis-Pseudoglioma Syndrome (OPPG): A Case Report. 62
35993038 2022
37
Structure and function of the retina of low-density lipoprotein receptor-related protein 5 (Lrp5)-deficient rats. 62
35139333 2022
38
Planned Preterm Delivery and Treatment of Severe Infantile FEVR With Osteoporosis-Pseudoglioma Syndrome. 62
35417292 2022
39
[Analysis of LRP5 gene variants in a Chinese pedigree affected with Osteoporosis-pseudoglioma syndrome]. 62
35076916 2022
40
Zebrafish mutants reveal unexpected role of Lrp5 in osteoclast regulation. 62
36120446 2022
41
Novel Homozygous Nonsense Mutation in LRP5 Gene in Two Siblings with Osteoporosis-pseudoglioma Syndrome. 62
34965700 2021
42
Lrp5 Mutant and Crispant Zebrafish Faithfully Model Human Osteoporosis, Establishing the Zebrafish as a Platform for CRISPR-Based Functional Screening of Osteoporosis Candidate Genes. 62
33957005 2021
43
Clinical Phenotype and Relevance of LRP5 and LRP6 Variants in Patients With Early-Onset Osteoporosis (EOOP). 62
33118644 2021
44
Role of the fibroblast growth factor 19 in the skeletal system. 62
33245964 2021
45
Osteoporosis Pseudoglioma Syndrome. 62
33531964 2020
46
[Osteoporosis-pseudoglioma Syndrome: a pediatric case of primary osteoporosis]. 62
32470270 2020
47
The evolving therapeutic landscape of genetic skeletal disorders. 62
31888683 2019
48
Osteoporosis-pseudoglioma syndrome: clinical, genetic, and treatment-response study of 10 new cases in Greece. 62
30499050 2019
49
A novel dominant COL11A1 mutation in a child with Stickler syndrome type II is associated with recurrent fractures. 62
28971234 2018
50
Genetic Risk Factors for Atypical Femoral Fractures (AFFs): A Systematic Review. 62
30283886 2018

Variations for Osteoporosis-Pseudoglioma Syndrome

ClinVar genetic disease variations for Osteoporosis-Pseudoglioma Syndrome:

5 (show all 38)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LRP5 NM_002335.4(LRP5):c.433C>T (p.Leu145Phe) SNV Pathogenic
6292 rs80358305 GRCh37: 11:68115656-68115656
GRCh38: 11:68348188-68348188
2 LRP5 NM_002335.4(LRP5):c.1655C>T (p.Thr552Met) SNV Pathogenic
40287 rs397514663 GRCh37: 11:68171021-68171021
GRCh38: 11:68403553-68403553
3 LRP5 NM_002335.4(LRP5):c.731C>T (p.Thr244Met) SNV Pathogenic
40289 rs397514665 GRCh37: 11:68131259-68131259
GRCh38: 11:68363791-68363791
4 LRP5 NM_002335.4(LRP5):c.4600C>T (p.Arg1534Ter) SNV Pathogenic
40290 rs149645175 GRCh37: 11:68216290-68216290
GRCh38: 11:68448822-68448822
5 LRP5 NM_002335.4(LRP5):c.1584+1G>A SNV Pathogenic
40291 rs1554967176 GRCh37: 11:68157521-68157521
GRCh38: 11:68390053-68390053
6 LRP5 NC_000011.8:g.(67967534_67967551)_(67974756_67974774)del DEL Pathogenic
40292 GRCh37:
GRCh38:
7 LRP5 NM_002335.4(LRP5):c.1512G>A (p.Trp504Ter) SNV Pathogenic
1526039 GRCh37: 11:68157448-68157448
GRCh38: 11:68389980-68389980
8 LRP5 NM_002335.4(LRP5):c.1145C>T (p.Pro382Leu) SNV Pathogenic
40288 rs397514664 GRCh37: 11:68153913-68153913
GRCh38: 11:68386445-68386445
9 LRP5 NM_002335.4(LRP5):c.1481G>A (p.Arg494Gln) SNV Pathogenic
6274 rs121908664 GRCh37: 11:68157417-68157417
GRCh38: 11:68389949-68389949
10 LRP5 NM_002335.4(LRP5):c.1708C>T (p.Arg570Trp) SNV Pathogenic
6275 rs121908665 GRCh37: 11:68171074-68171074
GRCh38: 11:68403606-68403606
11 LRP5 NM_002335.4(LRP5):c.2305del (p.Asp769fs) DEL Pathogenic
6279 rs1554971145 GRCh37: 11:68177594-68177594
GRCh38: 11:68410126-68410126
12 LRP5 NM_002335.4(LRP5):c.2202G>A (p.Trp734Ter) SNV Pathogenic
6278 rs121908667 GRCh37: 11:68177492-68177492
GRCh38: 11:68410024-68410024
13 LRP5 NM_002335.4(LRP5):c.1453G>T (p.Glu485Ter) SNV Pathogenic
6277 rs121908666 GRCh37: 11:68157389-68157389
GRCh38: 11:68389921-68389921
14 LRP5 NM_002335.4(LRP5):c.3804del (p.Glu1270fs) DEL Pathogenic
6273 rs80358319 GRCh37: 11:68201110-68201110
GRCh38: 11:68433642-68433642
15 LRP5 NM_002335.4(LRP5):c.2557C>T (p.Gln853Ter) SNV Pathogenic
6272 rs121908663 GRCh37: 11:68181210-68181210
GRCh38: 11:68413742-68413742
16 LRP5 NM_002335.4(LRP5):c.2151dup (p.Asp718Ter) DUP Pathogenic
6271 rs121908662 GRCh37: 11:68177439-68177440
GRCh38: 11:68409971-68409972
17 LRP5 NM_002335.4(LRP5):c.1468del (p.Asp490fs) DEL Pathogenic
6270 rs1554967141 GRCh37: 11:68157403-68157403
GRCh38: 11:68389935-68389935
18 LRP5 NM_002335.4(LRP5):c.1282C>T (p.Arg428Ter) SNV Pathogenic
6269 rs121908661 GRCh37: 11:68154050-68154050
GRCh38: 11:68386582-68386582
19 LRP5 NM_002335.4(LRP5):c.29G>A (p.Trp10Ter) SNV Pathogenic
6268 rs121908660 GRCh37: 11:68080211-68080211
GRCh38: 11:68312743-68312743
20 LRP5 NM_002335.4(LRP5):c.4489-2A>G SNV Likely Pathogenic
375570 rs1057519575 GRCh37: 11:68213902-68213902
GRCh38: 11:68446434-68446434
21 LRP5 NM_002335.4(LRP5):c.205G>T (p.Asp69Tyr) SNV Likely Pathogenic
375569 rs1057519574 GRCh37: 11:68115428-68115428
GRCh38: 11:68347960-68347960
22 LRP5 NM_002335.4(LRP5):c.1058G>A (p.Arg353Gln) SNV Likely Pathogenic
1299476 GRCh37: 11:68153826-68153826
GRCh38: 11:68386358-68386358
23 LRP5 NM_002335.4(LRP5):c.2555C>T (p.Thr852Met) SNV Likely Pathogenic
1179140 GRCh37: 11:68181208-68181208
GRCh38: 11:68413740-68413740
24 LRP5 NM_002335.4(LRP5):c.1142A>G (p.Asp381Gly) SNV Likely Pathogenic
267412 rs886040977 GRCh37: 11:68153910-68153910
GRCh38: 11:68386442-68386442
25 LRP5 NM_002335.4(LRP5):c.3005G>A (p.Arg1002Gln) SNV Likely Pathogenic
870120 rs779935967 GRCh37: 11:68183973-68183973
GRCh38: 11:68416505-68416505
26 LRP5 NM_002335.4(LRP5):c.1348C>T (p.Arg450Cys) SNV Likely Pathogenic
870119 rs765695793 GRCh37: 11:68154116-68154116
GRCh38: 11:68386648-68386648
27 LRP5 NM_002335.4(LRP5):c.3857G>A (p.Cys1286Tyr) SNV Likely Pathogenic
802696 rs1326459816 GRCh37: 11:68201163-68201163
GRCh38: 11:68433695-68433695
28 LRP5 NM_002335.4(LRP5):c.4001-15G>A SNV Uncertain Significance
1033502 rs2098675288 GRCh37: 11:68204342-68204342
GRCh38: 11:68436874-68436874
29 LRP5 NM_002335.4(LRP5):c.4619C>T (p.Thr1540Met) SNV Uncertain Significance
813613 rs141407040 GRCh37: 11:68216309-68216309
GRCh38: 11:68448841-68448841
30 LRP5 NM_002335.4(LRP5):c.1199C>T (p.Ala400Val) SNV Uncertain Significance
520692 rs201320326 GRCh37: 11:68153967-68153967
GRCh38: 11:68386499-68386499
31 LRP5 NM_002335.4(LRP5):c.1480C>T (p.Arg494Trp) SNV Uncertain Significance
1683590 GRCh37: 11:68157416-68157416
GRCh38: 11:68389948-68389948
32 LRP5 NM_002335.4(LRP5):c.787T>C (p.Cys263Arg) SNV Uncertain Significance
1683592 GRCh37: 11:68131315-68131315
GRCh38: 11:68363847-68363847
33 LRP5 NM_002335.4(LRP5):c.1413-7T>A SNV Uncertain Significance
488970 rs141889567 GRCh37: 11:68157342-68157342
GRCh38: 11:68389874-68389874
34 LRP5 NM_002335.4(LRP5):c.3107G>A (p.Arg1036Gln) SNV Uncertain Significance
183255 rs61889560 GRCh37: 11:68191036-68191036
GRCh38: 11:68423568-68423568
35 LRP5 NM_002335.4(LRP5):c.1999G>A (p.Val667Met) SNV Likely Benign
6276 rs4988321 GRCh37: 11:68174189-68174189
GRCh38: 11:68406721-68406721
36 LRP5 NM_002335.4(LRP5):c.3989C>T (p.Ala1330Val) SNV Benign
258640 rs3736228 GRCh37: 11:68201295-68201295
GRCh38: 11:68433827-68433827
37 LRP5 NM_002335.4(LRP5):c.4583A>C (p.Tyr1528Ser) SNV Not Provided
1019709 rs1182722973 GRCh37: 11:68213998-68213998
GRCh38: 11:68446530-68446530
38 LRP5 NM_002335.4(LRP5):c.4349-8C>A SNV Not Provided
1339809 GRCh37: 11:68207237-68207237
GRCh38: 11:68439769-68439769

UniProtKB/Swiss-Prot genetic disease variations for Osteoporosis-Pseudoglioma Syndrome:

73 (show all 21)
# Symbol AA change Variation ID SNP ID
1 LRP5 p.Arg494Gln VAR_021814 rs121908664
2 LRP5 p.Arg570Trp VAR_021815 rs121908665
3 LRP5 p.Asp203Asn VAR_063945 rs760548029
4 LRP5 p.Thr244Met VAR_063946 rs397514665
5 LRP5 p.Ser307Phe VAR_063947 rs1219101402
6 LRP5 p.Arg348Trp VAR_063948 rs1320065036
7 LRP5 p.Arg353Gln VAR_063949
8 LRP5 p.Ser356Leu VAR_063950 rs1158745675
9 LRP5 p.Thr390Lys VAR_063951
10 LRP5 p.Ala400Glu VAR_063952 rs201320326
11 LRP5 p.Gly404Arg VAR_063953 rs750791263
12 LRP5 p.Thr409Ala VAR_063954 rs1273567061
13 LRP5 p.Glu460Lys VAR_063959 rs866606166
14 LRP5 p.Trp478Arg VAR_063960 rs1318906451
15 LRP5 p.Trp504Cys VAR_063961 rs545508982
16 LRP5 p.Gly520Val VAR_063963
17 LRP5 p.Asn531Ile VAR_063965
18 LRP5 p.Asp683Asn VAR_063970 rs1470530779
19 LRP5 p.Tyr733His VAR_063971 rs746701187
20 LRP5 p.Asp1099Tyr VAR_063975
21 LRP5 p.Arg1113Cys VAR_063976 rs377258285

Expression for Osteoporosis-Pseudoglioma Syndrome

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

Pathways for Osteoporosis-Pseudoglioma Syndrome

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

(show all 45)
# Super pathways Score Top Affiliating Genes
1 13.85 WNT4 WNT3A WNT16 WNT10B WNT1 SOST
2
Show member pathways
13.4 AXIN1 CTNNB1 DKK1 FZD4 KREMEN1 LRP5
3
Show member pathways
13.32 AXIN1 CTNNB1 FZD4 WNT1 WNT10B WNT16
4
Show member pathways
12.98 AXIN1 CTNNB1 DKK1 LRP5 LRP6 WNT1
5
Show member pathways
12.89 WNT4 WNT3A WNT16 WNT10B WNT1 SOST
6
Show member pathways
12.81 WNT4 WNT3A WNT16 WNT10B WNT1 SOST
7 12.76 WNT4 WNT3A WNT16 WNT10B WNT1 SOST
8
Show member pathways
12.64 WNT4 WNT3A WNT16 WNT10B WNT1 FZD4
9
Show member pathways
12.63 WNT3A WNT1 LRP6 LRP5 KREMEN1 FZD4
10 12.58 AXIN1 CTNNB1 DKK1 FZD4 KREMEN1 LRP5
11
Show member pathways
12.54 WNT4 WNT3A WNT16 WNT10B WNT1 FZD4
12 12.41 WNT3A MESD LRP6 LRP5 DKK1 CTNNB1
13 12.35 WNT4 WNT3A WNT16 WNT10B WNT1 LRP6
14
Show member pathways
12.33 AXIN1 CTNNB1 FZD4 LRP5 LRP6 TNFSF11
15 12.32 CTNNB1 FZD4 LRP5 LRP6 WNT1 WNT10B
16
Show member pathways
12.31 CTNNB1 FZD4 WNT1 WNT10B WNT16 WNT3A
17 12.29 WNT4 WNT3A WNT10B WNT1 FZD4 CTNNB1
18 12.26 WNT4 WNT3A WNT10B WNT1 LRP6 LRP5
19
Show member pathways
12.16 WNT3A LRP6 LRP5 CTNNB1
20 12.15 WNT3A FZD4 DKK1 AXIN1
21 12.11 WNT4 WNT3A WNT16 WNT10B WNT1 LDLR
22 12.09 WNT1 VLDLR LRP8 LRP6 LRP5 FZD4
23 12.07 WNT1 FZD4 CTNNB1 AXIN1
24 11.97 WNT3A WNT1 CTNNB1 AXIN1
25 11.97 DKK1 LRP5 SOST SP7 TNFSF11 WNT10B
26 11.88 WNT1 LRP6 LRP5 DKK1 CTNNB1
28 11.85 WNT4 WNT10B SP7
29
Show member pathways
11.83 WNT10B CTNNB1 AXIN1
30 11.82 WNT4 WNT3A WNT16 WNT1 FZD4 CTNNB1
31 11.77 WNT16 FZD4 CTNNB1 AXIN1
32
Show member pathways
11.76 CTNNB1 DKK1 FZD4 LRP5 LRP6 SOST
33 11.73 WNT4 WNT3A WNT16 WNT1 DKK1 CTNNB1
34 11.68 WNT1 LRP6 DKK1 CTNNB1 AXIN1
35 11.64 WNT3A WNT1 TNFSF11 DKK1
36 11.53 WNT1 TNFSF11 SP7 LRP6 LRP5
37 11.47 SP7 SOST DKK1 CTNNB1
38
Show member pathways
11.41 WNT3A LRP6 LRP5 FZD4
39
Show member pathways
11.4 WNT3A LRP6 CTNNB1 AXIN1
40 11.33 LRP5 CTNNB1 AXIN1
41 11.31 DKK1 LRP5 LRP6 WNT1
42 11.3 WNT3A CTNNB1 AXIN1
43 11.04 WNT1 CTNNB1 AXIN1
44 10.9 WNT4 AXIN1
45
Show member pathways
10.49 DKK1 KREMEN1 LRP5 LRP6 SOST WNT3A

GO Terms for Osteoporosis-Pseudoglioma Syndrome

Cellular components related to Osteoporosis-Pseudoglioma Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 10.32 WNT4 WNT3A WNT16 WNT10B WNT1 TNFSF11
2 extracellular space GO:0005615 10.22 DKK1 FZD4 LRP8 NDP SOST TNFSF11
3 cell surface GO:0009986 10.16 FZD4 LDLR LRP6 LRP8 NDP WNT1
4 Wnt-Frizzled-LRP5/6 complex GO:1990851 9.43 WNT3A LRP6 LRP5
5 Wnt signalosome GO:1990909 9.23 LRP6 LRP5 CTNNB1 AXIN1

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

(show all 48)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.58 WNT3A WNT10B WNT1 TNFSF11 SP7 LRP6
2 positive regulation of gene expression GO:0010628 10.44 WNT3A WNT16 TNFSF11 LDLR DKK1 CTNNB1
3 positive regulation of DNA-templated transcription GO:0045893 10.43 WNT4 WNT3A WNT1 SOST NDP LRP6
4 endocytosis GO:0006897 10.21 VLDLR LRP8 LRP6 LRP5 LDLR
5 negative regulation of canonical Wnt signaling pathway GO:0090090 10.2 SOST KREMEN1 FZD4 DKK1 CTNNB1 AXIN1
6 cell fate commitment GO:0045165 10.19 WNT4 WNT3A WNT16 WNT10B WNT1
7 negative regulation of BMP signaling pathway GO:0030514 10.18 WNT1 SOST DKK1
8 osteoblast differentiation GO:0001649 10.17 WNT3A WNT10B SP7 CTNNB1
9 positive regulation of osteoblast differentiation GO:0045669 10.17 WNT4 WNT10B LRP5 CTNNB1
10 negative regulation of fat cell differentiation GO:0045599 10.15 WNT3A WNT10B WNT1 AXIN1
11 branching involved in ureteric bud morphogenesis GO:0001658 10.13 WNT4 WNT1 CTNNB1
12 neuron differentiation GO:0030182 10.13 WNT4 WNT3A WNT16 WNT10B WNT1 FZD4
13 positive regulation of JUN kinase activity GO:0043507 10.12 FZD4 DKK1 AXIN1
14 positive regulation of DNA-binding transcription factor activity GO:0051091 10.11 CTNNB1 FZD4 LRP5 LRP6 NDP TNFSF11
15 negative regulation of Wnt signaling pathway GO:0030178 10.07 SOST DKK1 AXIN1
16 negative regulation of ossification GO:0030279 10.05 SOST KREMEN1 DKK1
17 limb development GO:0060173 10.04 CTNNB1 DKK1 KREMEN1
18 T cell differentiation in thymus GO:0033077 10.03 WNT4 WNT1 CTNNB1
19 positive regulation of protein kinase activity GO:0045860 10.03 AXIN1 LRP8 VLDLR WNT3A
20 bone development GO:0060348 10 WNT1 TNFSF11 LRP5
21 negative regulation of protein metabolic process GO:0051248 10 LDLR AXIN1
22 dorsal/ventral axis specification GO:0009950 9.99 AXIN1 CTNNB1
23 ventral spinal cord development GO:0021517 9.99 LRP8 VLDLR
24 positive regulation of hematopoietic stem cell proliferation GO:1902035 9.99 WNT1 WNT10B
25 Wnt signaling pathway involved in midbrain dopaminergic neuron differentiation GO:1904953 9.99 WNT3A WNT1 LRP6
26 negative regulation of cell differentiation GO:0045596 9.98 WNT4 WNT1 CTNNB1
27 reelin-mediated signaling pathway GO:0038026 9.98 VLDLR LRP8
28 neuron fate determination GO:0048664 9.98 WNT1 CTNNB1
29 embryonic axis specification GO:0000578 9.97 CTNNB1 WNT1
30 positive regulation of skeletal muscle tissue development GO:0048643 9.97 CTNNB1 WNT3A
31 cell morphogenesis involved in differentiation GO:0000904 9.96 CTNNB1 DKK1
32 cell proliferation in midbrain GO:0033278 9.96 WNT1 WNT3A
33 Wnt signaling pathway GO:0016055 9.96 AXIN1 CTNNB1 DKK1 FZD4 KREMEN1 LRP5
34 extracellular matrix-cell signaling GO:0035426 9.95 FZD4 LRP5 NDP
35 retinal blood vessel morphogenesis GO:0061304 9.94 LRP5 FZD4
36 midbrain dopaminergic neuron differentiation GO:1904948 9.93 WNT1 LRP6 CTNNB1
37 Wnt signaling pathway involved in somitogenesis GO:0090244 9.92 LRP6 DKK1
38 canonical Wnt signaling pathway involved in midbrain dopaminergic neuron differentiation GO:1904954 9.92 CTNNB1 WNT1
39 retina vasculature morphogenesis in camera-type eye GO:0061299 9.92 NDP LRP5 FZD4
40 midbrain development GO:0030901 9.91 WNT3A WNT1 CTNNB1
41 astrocyte-dopaminergic neuron signaling GO:0036520 9.9 CTNNB1 WNT1
42 receptor-mediated endocytosis involved in cholesterol transport GO:0090118 9.89 LDLR LRP6
43 renal vesicle formation GO:0072033 9.88 WNT4 CTNNB1
44 positive regulation of dermatome development GO:0061184 9.88 WNT1 WNT3A WNT4
45 positive regulation of epithelial cell differentiation GO:0030858 9.87 WNT10B CTNNB1
46 Norrin signaling pathway GO:0110135 9.85 FZD4 LRP5 NDP
47 multicellular organism development GO:0007275 9.8 WNT4 WNT3A WNT16 WNT10B WNT1 KREMEN1
48 canonical Wnt signaling pathway GO:0060070 9.7 AXIN1 CTNNB1 DKK1 FZD4 LRP5 LRP6

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 signaling receptor binding GO:0005102 10.02 LRP6 NDP TNFSF11 WNT1 WNT10B WNT16
2 cytokine activity GO:0005125 10 NDP TNFSF11 WNT1 WNT10B WNT16 WNT3A
3 Wnt-protein binding GO:0017147 9.97 LRP6 LRP5 FZD4
4 receptor ligand activity GO:0048018 9.97 WNT4 WNT3A WNT10B WNT1
5 Wnt receptor activity GO:0042813 9.88 LRP6 LRP5 FZD4
6 coreceptor activity involved in canonical Wnt signaling pathway GO:1904928 9.78 LRP6 LRP5
7 coreceptor activity involved in Wnt signaling pathway GO:0071936 9.76 LRP6 LRP5
8 reelin receptor activity GO:0038025 9.73 VLDLR LRP8
9 very-low-density lipoprotein particle receptor activity GO:0030229 9.73 VLDLR LRP8 LDLR
10 toxin transmembrane transporter activity GO:0019534 9.69 LRP6 LRP5
11 low-density lipoprotein particle receptor activity GO:0005041 9.56 VLDLR LRP8 LRP6 LDLR
12 frizzled binding GO:0005109 9.47 WNT4 WNT3A WNT16 WNT10B WNT1 NDP

Sources for Osteoporosis-Pseudoglioma Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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