OPPG
MCID: OST024
MIFTS: 60

Osteoporosis-Pseudoglioma Syndrome (OPPG)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Osteoporosis-Pseudoglioma Syndrome

MalaCards integrated aliases for Osteoporosis-Pseudoglioma Syndrome:

Name: Osteoporosis-Pseudoglioma Syndrome 57 12 20 43 58 72 36 13 54 44 15 39
Oppg 57 12 20 43 58 72
Osteoporosis with Pseudoglioma 29 6 70
Ops 57 20 72
Ocular Form of Osteogenesis Imperfecta 12 58
Osteogenesis Imperfecta, Ocular Form 57 43
Osteogenesis Imperfecta Ocular Form 20 72
Osteoporosis Pseudoglioma Syndrome 20
Pseudoglioma with Bone Fragility 20

Characteristics:

Orphanet epidemiological data:

58
osteoporosis-pseudoglioma syndrome
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset of bone fragility in childhood


HPO:

31
osteoporosis-pseudoglioma syndrome:
Inheritance autosomal recessive inheritance


Classifications:

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


Summaries for Osteoporosis-Pseudoglioma Syndrome

MedlinePlus Genetics : 43 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 Wnt signaling pathway and Signaling by GPCR. The drugs Sodium citrate and Lithium carbonate have been mentioned in the context of this disorder. Affiliated tissues include eye, bone and retina, and related phenotypes are osteoporosis and increased susceptibility to fractures

Disease Ontology : 12 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 : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2788 Definition 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. Epidemiology The estimated prevalence is 1/2 000 000. Clinical description Additional clinical manifestations may include microphthalmos, abnormalities of the iris, lens or vitreous, cataracts, short stature, microcephaly, ligamental laxity, mental retardation and hypotonia. Etiology The disease is caused by mutations in the low-density lipoprotein receptor related protein 5 gene ( LRP5 ).

KEGG : 36 Osteoporosis-pseudoglioma syndrome (OPPG) is inherited as an autosomal recessive condition and is characterized by severe congenital osteoporosis with blindness. Mutations in LRP5 causes OPPG.

UniProtKB/Swiss-Prot : 72 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.

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 63)
# Related Disease Score Top Affiliating Genes
1 retinal detachment 30.7 NDP LRP5 FZD4 CTNNB1
2 vitreoretinopathy 30.5 NDP LRP5 FZD4 CTNNB1
3 coats disease 30.4 NDP LRP5 FZD4
4 persistent hyperplastic primary vitreous 30.0 WNT1 NDP LRP5 FZD4
5 microphthalmia 29.9 WNT3A NDP LRP6 LRP5 DKK1 CTNNB1
6 bone disease 29.7 WNT3A SOST RUNX2 LRP5 DKK1
7 exudative vitreoretinopathy 29.6 WNT3A WNT16 WNT10B NDP MESD LRP6
8 osteoporosis, juvenile 29.1 WNT3A WNT1 SOST RUNX2 LRP5 DKK1
9 osteoporosis 29.1 WNT3A WNT16 WNT1 SOST RUNX2 NDP
10 norrie disease 28.9 WNT3A WNT16 WNT10B WNT1 NDP LRP5
11 sclerosteosis 28.7 WNT3A SOST RUNX2 LRP6 LRP5 KREMEN1
12 brittle bone disorder 28.6 WNT3A WNT16 WNT10B WNT1 SOST RUNX2
13 bone mineral density quantitative trait locus 8 10.9
14 bone mineral density quantitative trait locus 15 10.9
15 yemenite deaf-blind hypopigmentation syndrome 10.7
16 autosomal recessive disease 10.6
17 bone mineral density quantitative trait locus 3 10.4
18 juvenile primary osteoporosis 10.4
19 persistent hyperplastic primary vitreous, autosomal recessive 10.3
20 hypotonia 10.3
21 exudative vitreoretinopathy 3 10.2 NDP LRP5 FZD4
22 leukocoria 10.2 NDP LRP5 FZD4
23 exudative vitreoretinopathy 2, x-linked 10.2 NDP LRP5 FZD4
24 blind hypotensive eye 10.2
25 cataract 10.2
26 lissencephaly with cerebellar hypoplasia 10.2 VLDLR LRP8
27 sclerosteosis 2 10.2 SOST LRP5 KREMEN1
28 kummell's disease 10.2 SOST DKK1
29 retinal vascular disease 10.2 NDP LRP5 FZD4
30 retinal telangiectasia 10.1 NDP FZD4
31 cenani-lenz syndactyly syndrome 10.1 SOST LRP6 LRP5
32 sclerosteosis 1 10.1 SOST LRP5 DKK1
33 craniodiaphyseal dysplasia 10.1 SOST LRP5 DKK1
34 hyperostosis 10.1 SOST LRP5 KREMEN1
35 alacrima, achalasia, and mental retardation syndrome 10.1
36 isolated microphthalmia 10.1
37 ehlers-danlos syndrome 10.1
38 ventricular septal defect 10.1
39 heart septal defect 10.1
40 chronic pain 10.1
41 exudative vitreoretinopathy 4 10.0 WNT16 NDP LRP5 FZD4
42 osteogenesis imperfecta, type xx 10.0 MESD LRP6
43 osteonecrosis 9.9 RUNX2 LRP5 DKK1
44 ischemic bone disease 9.9 SOST RUNX2 DKK1
45 osteogenesis imperfecta, type xv 9.9 WNT10B WNT1
46 lissencephaly 2 9.9 VLDLR LRP8
47 cerebellar hypoplasia 9.9 WNT1 VLDLR LRP8
48 osteopathia striata with cranial sclerosis 9.8 LRP6 LRP5 AXIN1
49 enterobiasis 9.8 LRP6 AXIN1
50 embryonal sarcoma 9.8 CTNNB1 AXIN1

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 31 (show top 50) (show all 52)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 osteoporosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000939
2 increased susceptibility to fractures 58 31 hallmark (90%) Very frequent (99-80%) HP:0002659
3 osteopenia 58 31 frequent (33%) Frequent (79-30%) HP:0000938
4 corneal opacity 58 31 frequent (33%) Frequent (79-30%) HP:0007957
5 waddling gait 58 31 frequent (33%) Frequent (79-30%) HP:0002515
6 joint laxity 58 31 frequent (33%) Frequent (79-30%) HP:0001388
7 retinal detachment 58 31 frequent (33%) Frequent (79-30%) HP:0000541
8 loss of ability to walk 58 31 frequent (33%) Frequent (79-30%) HP:0006957
9 crumpled long bones 58 31 frequent (33%) Frequent (79-30%) HP:0006367
10 metaphyseal widening 58 31 frequent (33%) Frequent (79-30%) HP:0003016
11 severely reduced visual acuity 58 31 frequent (33%) Frequent (79-30%) HP:0001141
12 infantile muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0008947
13 congenital blindness 58 31 frequent (33%) Frequent (79-30%) HP:0007875
14 low serum calcitriol 58 31 frequent (33%) Frequent (79-30%) HP:0012052
15 exudative retinopathy 58 31 frequent (33%) Frequent (79-30%) HP:0007898
16 angle closure glaucoma 58 31 frequent (33%) Frequent (79-30%) HP:0012109
17 exudative vitreoretinopathy 58 31 frequent (33%) Frequent (79-30%) HP:0030490
18 frontal bossing 58 31 occasional (7.5%) Occasional (29-5%) HP:0002007
19 global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001263
20 delayed speech and language development 58 31 occasional (7.5%) Occasional (29-5%) HP:0000750
21 short stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0004322
22 microphthalmia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000568
23 wormian bones 58 31 occasional (7.5%) Occasional (29-5%) HP:0002645
24 delayed gross motor development 58 31 occasional (7.5%) Occasional (29-5%) HP:0002194
25 congenital nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0006934
26 visual acuity light perception with projection 58 31 occasional (7.5%) Occasional (29-5%) HP:0030551
27 abnormal femoral neck/head morphology 31 occasional (7.5%) HP:0003366
28 preauricular skin tag 58 31 very rare (1%) Very rare (<4-1%) HP:0000384
29 blue sclerae 58 31 very rare (1%) Very rare (<4-1%) HP:0000592
30 abnormality of cardiovascular system morphology 58 31 very rare (1%) Very rare (<4-1%) HP:0030680
31 isosexual precocious puberty 58 31 very rare (1%) Very rare (<4-1%) HP:0008236
32 moderately reduced visual acuity 58 31 very rare (1%) Very rare (<4-1%) HP:0030515
33 cataract 31 HP:0000518
34 microcephaly 31 HP:0000252
35 blindness 31 HP:0000618
36 intellectual disability, mild 31 HP:0001256
37 kyphoscoliosis 31 HP:0002751
38 joint hypermobility 31 HP:0001382
39 platyspondyly 31 HP:0000926
40 glioma 31 HP:0009733
41 ventricular septal defect 31 HP:0001629
42 abnormal vitreous humor morphology 58 Frequent (79-30%)
43 phthisis bulbi 31 HP:0000667
44 generalized hypotonia 31 HP:0001290
45 abnormality of the femoral neck or head region 58 Occasional (29-5%)
46 pathologic fracture 31 HP:0002756
47 barrel-shaped chest 31 HP:0001552
48 vitreoretinopathy 31 HP:0007773
49 iris atrophy 31 HP:0001089
50 abnormal lower limb bone morphology 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
cataract
microphthalmia
phthisis bulbi
iris atrophy
pseudoglioma
more
Growth Height:
short stature

Cardiovascular Heart:
ventricular septal defect

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

Skeletal:
spontaneous fracture
osteoporosis (onset in childhood)

Head And Neck Head:
microcephaly

Skeletal Spine:
kyphoscoliosis
platyspondyly

Neurologic Central Nervous System:
hypotonia
mental retardation, mild
normal intelligence in most cases

Chest External Features:
barrel chest

Skeletal Skull:
intraocular calcification

Clinical features from OMIM®:

259770 (Updated 20-May-2021)

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

26
# 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:

46 (show all 18)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.35 AXIN1 CTNNB1 FZD4 LDLR LRP5 LRP6
2 cellular MP:0005384 10.35 AXIN1 CTNNB1 DKK1 FZD4 LDLR LRP5
3 growth/size/body region MP:0005378 10.3 AXIN1 CTNNB1 DKK1 FZD4 LDLR LRP5
4 nervous system MP:0003631 10.28 AXIN1 CTNNB1 DKK1 FZD4 LDLR LRP5
5 mortality/aging MP:0010768 10.26 AXIN1 CTNNB1 DKK1 FZD4 LDLR LRP5
6 embryo MP:0005380 10.19 AXIN1 CTNNB1 DKK1 FZD4 LRP5 LRP6
7 craniofacial MP:0005382 10.16 AXIN1 CTNNB1 DKK1 LRP5 LRP6 RUNX2
8 digestive/alimentary MP:0005381 10.15 AXIN1 CTNNB1 FZD4 LDLR LRP6 RUNX2
9 limbs/digits/tail MP:0005371 10.15 AXIN1 CTNNB1 DKK1 KREMEN1 LRP5 LRP6
10 hearing/vestibular/ear MP:0005377 10.11 AXIN1 CTNNB1 FZD4 LDLR LRP6 NDP
11 normal MP:0002873 10.02 AXIN1 CTNNB1 FZD4 KREMEN1 LDLR LRP5
12 no phenotypic analysis MP:0003012 10.01 CTNNB1 FZD4 LDLR LRP6 NDP RUNX2
13 muscle MP:0005369 10 CTNNB1 FZD4 LDLR RUNX2 WNT1 WNT10B
14 reproductive system MP:0005389 9.96 AXIN1 CTNNB1 FZD4 KREMEN1 LRP6 LRP8
15 pigmentation MP:0001186 9.8 CTNNB1 FZD4 LDLR LRP5 NDP VLDLR
16 skeleton MP:0005390 9.77 AXIN1 CTNNB1 DKK1 KREMEN1 LRP5 LRP6
17 respiratory system MP:0005388 9.7 AXIN1 CTNNB1 DKK1 LRP6 RUNX2 WNT1
18 vision/eye MP:0005391 9.28 CTNNB1 DKK1 FZD4 LDLR LRP5 LRP6

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
Sodium citrate Approved, Investigational 68-04-2
2
Lithium carbonate Approved 554-13-2
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 29 LRP5

Anatomical Context for Osteoporosis-Pseudoglioma Syndrome

MalaCards organs/tissues related to Osteoporosis-Pseudoglioma Syndrome:

40
Eye, Bone, Retina, Endothelial, Heart

Publications for Osteoporosis-Pseudoglioma Syndrome

Articles related to Osteoporosis-Pseudoglioma Syndrome:

(show top 50) (show all 125)
# Title Authors PMID Year
1
Various types of LRP5 mutations in four patients with osteoporosis-pseudoglioma syndrome: identification of a 7.2-kb microdeletion using oligonucleotide tiling microarray. 54 57 6 61
20034086 2010
2
LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development. 61 57 6
11719191 2001
3
Clinical and molecular findings in osteoporosis-pseudoglioma syndrome. 61 54 6
16252235 2005
4
Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13. 57 61
8659519 1996
5
Osteoporosis-pseudoglioma syndrome. 61 57
8418655 1993
6
Osteoporosis-pseudoglioma syndrome: clinical, morphological, and biochemical studies. 61 57
3172149 1988
7
Osteoporosis-pseudoglioma syndrome with congenital heart disease: a new association. 61 57
3351889 1988
8
Osteoporosis-pseudoglioma syndrome. 61 57
3698336 1986
9
Osteoporosis-pseudoglioma syndrome and the ocular form of osteogenesis imperfecta. 61 57
3698335 1986
10
Osteoporosis-pseudoglioma syndrome: report of three affected sibs and an overview. 61 57
3931475 1985
11
Autosomal recessive syndrome of pseudogliomantous blindness, osteoporosis and mild mental retardation. 61 57
1261071 1976
12
Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes. 6
15981244 2005
13
Osteoporosis-pseudoglioma or osteogenesis imperfecta? 57
3955875 1986
14
Ocular osteogenesis imperfecta. 57
3955877 1986
15
The ocular form of osteogenesis imperfecta: a new autosomal recessive syndrome. 57
4028503 1985
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. 54 61
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. 54 61
19177549 2009
20
Osteoporosis-pseudoglioma syndrome: description of 9 new cases and beneficial response to bisphosphonates. 61 54
18602879 2008
21
Three years follow-up of pamidronate therapy in two brothers with osteoporosis-pseudoglioma syndrome (OPPG) carrying an LRP5 mutation. 54 61
18825883 2008
22
The binding between sclerostin and LRP5 is altered by DKK1 and by high-bone mass LRP5 mutations. 54 61
18521528 2008
23
A novel mutation in the LRP5 gene is associated with osteoporosis-pseudoglioma syndrome. 54 61
17437160 2007
24
Familial exudative vitreoretinopathy and osteoporosis-pseudoglioma syndrome caused by a mutation in the LRP5 gene. 61 54
17353424 2007
25
The Wnt co-receptor LRP5 is essential for skeletal mechanotransduction but not for the anabolic bone response to parathyroid hormone treatment. 61 54
16790443 2006
26
[Wnt-beta-catenin signaling in bone metabolism]. 54 61
16397351 2006
27
LRP5 mutations in osteoporosis-pseudoglioma syndrome and high-bone-mass disorders. 61 54
15850991 2005
28
Heterozygous mutations in the LDL receptor-related protein 5 (LRP5) gene are associated with primary osteoporosis in children. 61 54
15824851 2005
29
Association between bone mineral density and LDL receptor-related protein 5 gene polymorphisms in young Korean men. 54 61
15201508 2004
30
[Osteoporosis associated with gene mutation]. 54 61
15775238 2003
31
Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density. 54 61
12579474 2003
32
Cloning and expression of Xenopus Lrp5 and Lrp6 genes. 61 54
12204281 2002
33
Cbfa1-independent decrease in osteoblast proliferation, osteopenia, and persistent embryonic eye vascularization in mice deficient in Lrp5, a Wnt coreceptor. 54 61
11956231 2002
34
Clinical Phenotype and Relevance of LRP5 and LRP6 Variants in Patients With Early-Onset Osteoporosis (EOOP). 61
33118644 2021
35
Role of the fibroblast growth factor 19 in the skeletal system. 61
33245964 2021
36
Osteoporosis Pseudoglioma Syndrome. 61
33531964 2020
37
[Osteoporosis-pseudoglioma Syndrome: a pediatric case of primary osteoporosis]. 61
32470270 2020
38
The evolving therapeutic landscape of genetic skeletal disorders. 61
31888683 2019
39
Osteoporosis-pseudoglioma syndrome: clinical, genetic, and treatment-response study of 10 new cases in Greece. 61
30499050 2019
40
A novel dominant COL11A1 mutation in a child with Stickler syndrome type II is associated with recurrent fractures. 61
28971234 2018
41
Genetic Risk Factors for Atypical Femoral Fractures (AFFs): A Systematic Review. 61
30283886 2018
42
Novel Homozygous LRP5 Mutations in Mexican Patients with Osteoporosis-Pseudoglioma Syndrome. 61
29131652 2017
43
Novel mutations in the LRP5 gene in patients with Osteoporosis-pseudoglioma syndrome. 61
29055141 2017
44
Clinical and biochemical response to neridronate treatment in a patient with osteoporosis-pseudoglioma syndrome (OPPG). 61
28866852 2017
45
Osteoporosis-pseudoglioma syndrome: Report of two cases and a manifesting carrier. 61
28145787 2017
46
Variable Expressivity and Response to Bisphosphonate Therapy in a Family with Osteoporosis Pseudoglioma Syndrome. 61
28891484 2017
47
Exploiting the WNT Signaling Pathway for Clinical Purposes. 61
28432596 2017
48
LRP5-linked osteoporosis-pseudoglioma syndrome mimicking isolated microphthalmia. 61
28111184 2017
49
Application of anti-Sclerostin therapy in non-osteoporosis disease models. 61
27780792 2017
50
Osteoporosis-pseudoglioma syndrome in South Africa. 61
27245540 2016

Variations for Osteoporosis-Pseudoglioma Syndrome

ClinVar genetic disease variations for Osteoporosis-Pseudoglioma Syndrome:

6 (show all 31)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LRP5 NM_002335.4(LRP5):c.29G>A (p.Trp10Ter) SNV Pathogenic 6268 rs121908660 GRCh37: 11:68080211-68080211
GRCh38: 11:68312743-68312743
2 LRP5 NM_002335.4(LRP5):c.1282C>T (p.Arg428Ter) SNV Pathogenic 6269 rs121908661 GRCh37: 11:68154050-68154050
GRCh38: 11:68386582-68386582
3 LRP5 NM_002335.4(LRP5):c.1468del (p.Asp490fs) Deletion Pathogenic 6270 rs1554967141 GRCh37: 11:68157403-68157403
GRCh38: 11:68389935-68389935
4 LRP5 NM_002335.4(LRP5):c.2557C>T (p.Gln853Ter) SNV Pathogenic 6272 rs121908663 GRCh37: 11:68181210-68181210
GRCh38: 11:68413742-68413742
5 LRP5 NM_002335.4(LRP5):c.3804del (p.Glu1270fs) Deletion Pathogenic 6273 rs80358319 GRCh37: 11:68201110-68201110
GRCh38: 11:68433642-68433642
6 LRP5 NM_002335.4(LRP5):c.1708C>T (p.Arg570Trp) SNV Pathogenic 6275 rs121908665 GRCh37: 11:68171074-68171074
GRCh38: 11:68403606-68403606
7 LRP5 NM_002335.4(LRP5):c.1453G>T (p.Glu485Ter) SNV Pathogenic 6277 rs121908666 GRCh37: 11:68157389-68157389
GRCh38: 11:68389921-68389921
8 LRP5 NM_002335.4(LRP5):c.2202G>A (p.Trp734Ter) SNV Pathogenic 6278 rs121908667 GRCh37: 11:68177492-68177492
GRCh38: 11:68410024-68410024
9 LRP5 NM_002335.4(LRP5):c.2305del (p.Asp769fs) Deletion Pathogenic 6279 rs1554971145 GRCh37: 11:68177594-68177594
GRCh38: 11:68410126-68410126
10 LRP5 NM_002335.4(LRP5):c.433C>T (p.Leu145Phe) SNV Pathogenic 6292 rs80358305 GRCh37: 11:68115656-68115656
GRCh38: 11:68348188-68348188
11 LRP5 NM_002335.4(LRP5):c.1655C>T (p.Thr552Met) SNV Pathogenic 40287 rs397514663 GRCh37: 11:68171021-68171021
GRCh38: 11:68403553-68403553
12 LRP5 NM_002335.4(LRP5):c.1145C>T (p.Pro382Leu) SNV Pathogenic 40288 rs397514664 GRCh37: 11:68153913-68153913
GRCh38: 11:68386445-68386445
13 LRP5 NM_002335.4(LRP5):c.731C>T (p.Thr244Met) SNV Pathogenic 40289 rs397514665 GRCh37: 11:68131259-68131259
GRCh38: 11:68363791-68363791
14 LRP5 NM_002335.4(LRP5):c.4600C>T (p.Arg1534Ter) SNV Pathogenic 40290 rs149645175 GRCh37: 11:68216290-68216290
GRCh38: 11:68448822-68448822
15 LRP5 NM_002335.4(LRP5):c.1584+1G>A SNV Pathogenic 40291 rs1554967176 GRCh37: 11:68157521-68157521
GRCh38: 11:68390053-68390053
16 LRP5 NC_000011.8:g.(67967534_67967551)_(67974756_67974774)del Deletion Pathogenic 40292 GRCh37:
GRCh38:
17 LRP5 NM_002335.4(LRP5):c.1481G>A (p.Arg494Gln) SNV Pathogenic 6274 rs121908664 GRCh37: 11:68157417-68157417
GRCh38: 11:68389949-68389949
18 LRP5 NM_002335.4(LRP5):c.2151dup (p.Asp718Ter) Duplication Pathogenic 6271 rs121908662 GRCh37: 11:68177439-68177440
GRCh38: 11:68409971-68409972
19 LRP5 NM_002335.4(LRP5):c.1348C>T (p.Arg450Cys) SNV Likely pathogenic 870119 rs765695793 GRCh37: 11:68154116-68154116
GRCh38: 11:68386648-68386648
20 LRP5 NM_002335.4(LRP5):c.3005G>A (p.Arg1002Gln) SNV Likely pathogenic 870120 rs779935967 GRCh37: 11:68183973-68183973
GRCh38: 11:68416505-68416505
21 LRP5 NM_002335.4(LRP5):c.1142A>G (p.Asp381Gly) SNV Likely pathogenic 267412 rs886040977 GRCh37: 11:68153910-68153910
GRCh38: 11:68386442-68386442
22 LRP5 NM_002335.4(LRP5):c.205G>T (p.Asp69Tyr) SNV Likely pathogenic 375569 rs1057519574 GRCh37: 11:68115428-68115428
GRCh38: 11:68347960-68347960
23 LRP5 NM_002335.4(LRP5):c.4489-2A>G SNV Likely pathogenic 375570 rs1057519575 GRCh37: 11:68213902-68213902
GRCh38: 11:68446434-68446434
24 LRP5 NM_002335.4(LRP5):c.3857G>A (p.Cys1286Tyr) SNV Likely pathogenic 802696 rs1326459816 GRCh37: 11:68201163-68201163
GRCh38: 11:68433695-68433695
25 LRP5 NM_002335.4(LRP5):c.1199C>T (p.Ala400Val) SNV Uncertain significance 520692 rs201320326 GRCh37: 11:68153967-68153967
GRCh38: 11:68386499-68386499
26 LRP5 NM_002335.4(LRP5):c.3107G>A (p.Arg1036Gln) SNV Uncertain significance 183255 rs61889560 GRCh37: 11:68191036-68191036
GRCh38: 11:68423568-68423568
27 LRP5 NM_002335.4(LRP5):c.1413-7T>A SNV Uncertain significance 488970 rs141889567 GRCh37: 11:68157342-68157342
GRCh38: 11:68389874-68389874
28 LRP5 NM_002335.4(LRP5):c.4001-15G>A SNV Uncertain significance 1033502 GRCh37: 11:68204342-68204342
GRCh38: 11:68436874-68436874
29 LRP5 NM_002335.4(LRP5):c.4619C>T (p.Thr1540Met) SNV Uncertain significance 813613 GRCh37: 11:68216309-68216309
GRCh38: 11:68448841-68448841
30 LRP5 NM_002335.4(LRP5):c.1999G>A (p.Val667Met) SNV Likely benign 6276 rs4988321 GRCh37: 11:68174189-68174189
GRCh38: 11:68406721-68406721
31 LRP5 NM_002335.4(LRP5):c.3989C>T (p.Ala1330Val) SNV Benign 258640 rs3736228 GRCh37: 11:68201295-68201295
GRCh38: 11:68433827-68433827

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

72 (show all 24)
# 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 rs121910140
6 LRP5 p.Arg348Trp VAR_063948 rs132006503
7 LRP5 p.Arg353Gln VAR_063949
8 LRP5 p.Ser356Leu VAR_063950 rs115874567
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 rs127356706
13 LRP5 p.Asp434Asn VAR_063955 rs757888034
14 LRP5 p.Glu460Lys VAR_063959 rs866606166
15 LRP5 p.Trp478Arg VAR_063960 rs131890645
16 LRP5 p.Trp504Cys VAR_063961 rs545508982
17 LRP5 p.Gly520Val VAR_063963
18 LRP5 p.Asn531Ile VAR_063965
19 LRP5 p.Gly610Arg VAR_063968 rs80358313
20 LRP5 p.Asp683Asn VAR_063970 rs147053077
21 LRP5 p.Tyr733His VAR_063971 rs746701187
22 LRP5 p.Asp1099Tyr VAR_063975
23 LRP5 p.Arg1113Cys VAR_063976 rs377258285
24 LRP5 p.Gly1401Asp VAR_063979

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 KEGG:

36
# Name Kegg Source Accession
1 Wnt signaling pathway hsa04310

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

(show all 47)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.18 WNT3A WNT16 WNT10B WNT1 SOST LRP8
2
Show member pathways
13.67 WNT3A LRP6 LRP5 KREMEN1 FZD4 DKK1
3
Show member pathways
13.51 WNT3A WNT16 WNT10B WNT1 LRP6 LRP5
4
Show member pathways
13.28 WNT3A WNT16 WNT10B WNT1 FZD4 CTNNB1
5
Show member pathways
13.03 WNT3A WNT16 WNT10B WNT1 FZD4 CTNNB1
6
Show member pathways
12.99 WNT3A WNT16 WNT10B WNT1 LDLR FZD4
7 12.95 WNT3A WNT16 WNT10B WNT1 LRP6 LRP5
8
Show member pathways
12.86 WNT3A WNT16 WNT10B WNT1 LRP6 LRP5
9
Show member pathways
12.86 WNT3A WNT16 WNT10B WNT1 SOST LRP6
10
Show member pathways
12.63 WNT3A WNT16 WNT10B WNT1 LRP6 LRP5
11
Show member pathways
12.6 WNT3A WNT1 LRP6 LRP5 KREMEN1 FZD4
12
Show member pathways
12.57 WNT3A WNT16 WNT10B WNT1 FZD4 DKK1
13
Show member pathways
12.56 WNT3A FZD4 DKK1 CTNNB1 AXIN1
14
Show member pathways
12.46 WNT3A WNT16 WNT10B WNT1 FZD4
15
Show member pathways
12.45 WNT3A WNT16 WNT10B WNT1 FZD4 CTNNB1
16 12.41 WNT3A WNT16 WNT10B WNT1 FZD4 CTNNB1
17 12.38 WNT3A MESD LRP6 LRP5 DKK1 CTNNB1
18 12.29 WNT3A WNT16 WNT10B WNT1 FZD4 CTNNB1
19 12.25 WNT3A WNT16 WNT10B WNT1 LRP6 LRP5
20 12.23 WNT3A WNT10B WNT1 FZD4 CTNNB1 AXIN1
21 12.19 WNT3A WNT16 WNT10B WNT1 FZD4 CTNNB1
22
Show member pathways
12.18 WNT3A LRP6 LRP5 CTNNB1
23
Show member pathways
12.15 WNT3A WNT16 WNT10B WNT1 LRP6 LRP5
24 12.08 WNT3A WNT16 WNT10B WNT1 LDLR CTNNB1
25 12.06 WNT1 FZD4 CTNNB1 AXIN1
26 12.03 WNT1 VLDLR LRP8 LRP6 LRP5 FZD4
27 12 WNT10B WNT1 CTNNB1
28 11.99 SOST RUNX2 LRP6 LRP5
29 11.97 WNT3A WNT1 CTNNB1 AXIN1
30 11.92 FZD4 CTNNB1 AXIN1
31 11.92 WNT3A WNT16 WNT10B WNT1 SOST LRP6
32 11.88 WNT1 LRP6 LRP5 DKK1 CTNNB1
33 11.78 WNT16 FZD4 CTNNB1 AXIN1
34 11.76 WNT3A WNT16 WNT10B WNT1 LRP6 LRP5
35
Show member pathways
11.74 WNT3A WNT16 WNT10B WNT1 CTNNB1
36 11.66 LRP6 LRP5 CTNNB1 AXIN1
37 11.65 WNT1 LRP6 DKK1 CTNNB1 AXIN1
38 11.63 WNT1 RUNX2 CTNNB1
39 11.54 WNT3A WNT1 DKK1
40
Show member pathways
11.42 WNT3A LRP6 LRP5 FZD4
41 11.37 LRP5 CTNNB1 AXIN1
42 11.32 WNT3A CTNNB1 AXIN1
43 11.29 WNT1 LRP6 LRP5 DKK1 CTNNB1
44 11.25 WNT3A WNT1 LRP6 LRP5 KREMEN1 FZD4
45
Show member pathways
11.2 WNT3A SOST LRP6 LRP5 KREMEN1 DKK1
46 11.09 WNT1 CTNNB1 AXIN1
47 10.81 DKK1 CTNNB1

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 plasma membrane GO:0005886 10.13 WNT3A WNT1 VLDLR MESD LRP8 LRP6
2 extracellular region GO:0005576 10.06 WNT3A WNT16 WNT10B WNT1 SOST NDP
3 extracellular space GO:0005615 9.96 WNT3A WNT16 WNT10B WNT1 VLDLR SOST
4 cell surface GO:0009986 9.7 WNT3A WNT1 NDP LRP8 LRP6 LDLR
5 receptor complex GO:0043235 9.67 VLDLR LRP8 LRP5 LDLR
6 beta-catenin destruction complex GO:0030877 9.43 CTNNB1 AXIN1
7 Wnt signalosome GO:1990909 9.13 LRP6 LRP5 CTNNB1
8 Wnt-Frizzled-LRP5/6 complex GO:1990851 8.8 WNT3A LRP6 LRP5

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

(show top 50) (show all 61)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.19 WNT3A WNT10B WNT1 RUNX2 LRP6 LRP5
2 multicellular organism development GO:0007275 10.16 WNT3A WNT16 WNT10B WNT1 LRP6 LRP5
3 positive regulation of cell proliferation GO:0008284 10.08 WNT3A WNT10B WNT1 RUNX2 LRP5 CTNNB1
4 positive regulation of gene expression GO:0010628 10.06 WNT3A WNT16 RUNX2 LDLR DKK1 CTNNB1
5 positive regulation of transcription, DNA-templated GO:0045893 10.02 WNT3A WNT1 SOST RUNX2 NDP LRP6
6 endocytosis GO:0006897 9.97 VLDLR LRP8 LRP6 LRP5 LDLR
7 neuron differentiation GO:0030182 9.91 WNT3A WNT16 WNT10B WNT1 RUNX2 FZD4
8 ossification GO:0001503 9.89 SOST RUNX2 MESD
9 cholesterol metabolic process GO:0008203 9.89 VLDLR LRP5 LDLR
10 negative regulation of canonical Wnt signaling pathway GO:0090090 9.88 SOST LRP6 KREMEN1 FZD4 DKK1 AXIN1
11 hemopoiesis GO:0030097 9.86 WNT3A RUNX2 CTNNB1
12 cellular response to retinoic acid GO:0071300 9.85 WNT3A WNT10B FZD4
13 positive regulation of protein kinase activity GO:0045860 9.85 WNT3A VLDLR LRP8
14 positive regulation of osteoblast differentiation GO:0045669 9.85 WNT10B RUNX2 LRP5 CTNNB1
15 odontogenesis of dentin-containing tooth GO:0042475 9.84 RUNX2 LRP6 CTNNB1
16 cell fate commitment GO:0045165 9.84 WNT3A WNT16 WNT10B WNT1
17 negative regulation of fat cell differentiation GO:0045599 9.83 WNT3A WNT10B WNT1
18 regulation of cell differentiation GO:0045595 9.81 WNT3A RUNX2 CTNNB1
19 limb development GO:0060173 9.8 KREMEN1 DKK1 CTNNB1
20 midbrain development GO:0030901 9.76 WNT3A WNT1 LRP6 CTNNB1
21 positive regulation of DNA-binding transcription factor activity GO:0051091 9.76 WNT3A WNT10B WNT1 NDP LRP6 LRP5
22 negative regulation of ossification GO:0030279 9.74 SOST KREMEN1 DKK1
23 positive regulation of neural precursor cell proliferation GO:2000179 9.73 WNT3A CTNNB1
24 positive regulation of mesenchymal cell proliferation GO:0002053 9.73 LRP5 CTNNB1
25 cellular response to cholesterol GO:0071397 9.73 LRP8 LRP6
26 bone remodeling GO:0046849 9.73 WNT16 LRP6 LRP5
27 negative regulation of cell-substrate adhesion GO:0010812 9.72 WNT1 FZD4
28 osteoblast development GO:0002076 9.72 RUNX2 LRP5
29 positive regulation of dendrite development GO:1900006 9.72 VLDLR LRP8
30 regulation of osteoblast differentiation GO:0045667 9.72 RUNX2 CTNNB1
31 gastrulation with mouth forming second GO:0001702 9.72 LRP5 CTNNB1
32 hematopoietic stem cell proliferation GO:0071425 9.71 WNT10B WNT1
33 embryonic brain development GO:1990403 9.71 WNT1 CTNNB1
34 negative regulation of oxidative stress-induced neuron death GO:1903204 9.71 WNT1 CTNNB1
35 regulation of ossification GO:0030278 9.7 RUNX2 LRP6
36 layer formation in cerebral cortex GO:0021819 9.7 LRP8 CTNNB1
37 branching involved in mammary gland duct morphogenesis GO:0060444 9.7 LRP6 LRP5
38 spinal cord association neuron differentiation GO:0021527 9.7 WNT3A WNT1
39 midbrain dopaminergic neuron differentiation GO:1904948 9.7 WNT1 LRP6 CTNNB1
40 regulation of protein metabolic process GO:0051246 9.69 WNT10B LDLR
41 cellular response to parathyroid hormone stimulus GO:0071374 9.69 WNT10B SOST
42 reelin-mediated signaling pathway GO:0038026 9.69 VLDLR LRP8
43 ventral spinal cord development GO:0021517 9.68 VLDLR LRP8
44 positive regulation of skeletal muscle tissue development GO:0048643 9.68 WNT3A CTNNB1
45 positive regulation of core promoter binding GO:1904798 9.67 WNT3A CTNNB1
46 embryonic axis specification GO:0000578 9.67 WNT1 CTNNB1
47 retina vasculature morphogenesis in camera-type eye GO:0061299 9.67 NDP LRP5 FZD4
48 retinal blood vessel morphogenesis GO:0061304 9.66 LRP5 FZD4
49 cell proliferation in midbrain GO:0033278 9.65 WNT3A WNT1
50 Wnt signaling pathway involved in midbrain dopaminergic neuron differentiation GO:1904953 9.65 WNT3A WNT1 LRP6

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 signaling receptor binding GO:0005102 9.91 WNT3A WNT16 WNT10B WNT1 LRP6
2 cytokine activity GO:0005125 9.77 WNT3A WNT16 WNT10B WNT1 NDP
3 amyloid-beta binding GO:0001540 9.71 LRP8 LDLR FZD4
4 receptor ligand activity GO:0048018 9.67 WNT3A WNT10B WNT1
5 Wnt-protein binding GO:0017147 9.63 LRP6 LRP5 FZD4
6 cargo receptor activity GO:0038024 9.57 VLDLR LRP8
7 I-SMAD binding GO:0070411 9.56 CTNNB1 AXIN1
8 co-receptor binding GO:0039706 9.55 WNT3A DKK1
9 toxin transmembrane transporter activity GO:0019534 9.52 LRP6 LRP5
10 apolipoprotein binding GO:0034185 9.5 VLDLR LRP8 LRP6
11 coreceptor activity involved in canonical Wnt signaling pathway GO:1904928 9.48 LRP6 LRP5
12 coreceptor activity involved in Wnt signaling pathway GO:0071936 9.43 LRP6 LRP5
13 Wnt-activated receptor activity GO:0042813 9.43 LRP6 LRP5 FZD4
14 reelin receptor activity GO:0038025 9.4 VLDLR LRP8
15 very-low-density lipoprotein particle receptor activity GO:0030229 9.33 VLDLR LRP8 LDLR
16 low-density lipoprotein particle receptor activity GO:0005041 9.26 VLDLR LRP8 LRP6 LDLR
17 frizzled binding GO:0005109 9.1 WNT3A WNT16 WNT10B WNT1 NDP LRP6

Sources for Osteoporosis-Pseudoglioma Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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