OPPG
MCID: OST024
MIFTS: 56

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 58 12 54 26 60 76 38 13 56 45 15 41
Oppg 58 12 54 26 60 76
Osteoporosis with Pseudoglioma 30 6 74
Ops 58 54 76
Ocular Form of Osteogenesis Imperfecta 12 60
Osteogenesis Imperfecta, Ocular Form 58 26
Osteogenesis Imperfecta Ocular Form 54 76
Osteoporosis Pseudoglioma Syndrome 54
Pseudoglioma with Bone Fragility 54

Characteristics:

Orphanet epidemiological data:

60
osteoporosis-pseudoglioma syndrome
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset of bone fragility in childhood


HPO:

33
osteoporosis-pseudoglioma syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Osteoporosis-Pseudoglioma Syndrome

Genetics Home Reference : 26 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 persistent hyperplastic primary vitreous and exudative 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 Wnt. The drugs Lithium carbonate and Sodium Citrate have been mentioned in the context of this disorder. Affiliated tissues include bone, eye and skin, and related phenotypes are osteoporosis and increased susceptibility to fractures

Disease Ontology : 12 An autosomal recessive disease 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.

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2788Disease definitionOsteoporosis pseudoglioma syndrome is a very rare autosomal recessive disorder characterized by congenital or infancy-onset blindness and severe juvenile-onset osteoporosis and spontaneous fractures.EpidemiologyThe estimated prevalence is 1/2 000 000.Clinical descriptionAdditional clinical manifestations may include microphthalmos, abnormalities of the iris, lens or vitreous, cataracts, short stature, microcephaly, ligamental laxity, mental retardation and hypotonia.EtiologyThe disease is caused by mutations in the low-density lipoprotein receptor related protein 5 gene (LRP5).Visit the Orphanet disease page for more resources.

UniProtKB/Swiss-Prot : 76 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: 259770

Related Diseases for Osteoporosis-Pseudoglioma Syndrome

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:

60 33 (show top 50) (show all 51)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 osteoporosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000939
2 increased susceptibility to fractures 60 33 hallmark (90%) Very frequent (99-80%) HP:0002659
3 osteopenia 60 33 frequent (33%) Frequent (79-30%) HP:0000938
4 corneal opacity 60 33 frequent (33%) Frequent (79-30%) HP:0007957
5 waddling gait 60 33 frequent (33%) Frequent (79-30%) HP:0002515
6 joint laxity 60 33 frequent (33%) Frequent (79-30%) HP:0001388
7 retinal detachment 60 33 frequent (33%) Frequent (79-30%) HP:0000541
8 crumpled long bones 60 33 frequent (33%) Frequent (79-30%) HP:0006367
9 congenital blindness 60 33 frequent (33%) Frequent (79-30%) HP:0007875
10 loss of ability to walk 60 33 frequent (33%) Frequent (79-30%) HP:0006957
11 infantile muscular hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0008947
12 severely reduced visual acuity 60 33 frequent (33%) Frequent (79-30%) HP:0001141
13 metaphyseal widening 60 33 frequent (33%) Frequent (79-30%) HP:0003016
14 exudative retinopathy 60 33 frequent (33%) Frequent (79-30%) HP:0007898
15 low serum calcitriol 60 33 frequent (33%) Frequent (79-30%) HP:0012052
16 angle closure glaucoma 60 33 frequent (33%) Frequent (79-30%) HP:0012109
17 exudative vitreoretinopathy 60 33 frequent (33%) Frequent (79-30%) HP:0030490
18 frontal bossing 60 33 occasional (7.5%) Occasional (29-5%) HP:0002007
19 global developmental delay 60 33 occasional (7.5%) Occasional (29-5%) HP:0001263
20 delayed speech and language development 60 33 occasional (7.5%) Occasional (29-5%) HP:0000750
21 short stature 60 33 occasional (7.5%) Occasional (29-5%) HP:0004322
22 wormian bones 60 33 occasional (7.5%) Occasional (29-5%) HP:0002645
23 microphthalmia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000568
24 abnormality of the femoral neck or head region 60 33 occasional (7.5%) Occasional (29-5%) HP:0003366
25 delayed gross motor development 60 33 occasional (7.5%) Occasional (29-5%) HP:0002194
26 congenital nystagmus 60 33 occasional (7.5%) Occasional (29-5%) HP:0006934
27 visual acuity light perception with projection 60 33 occasional (7.5%) Occasional (29-5%) HP:0030551
28 preauricular skin tag 60 33 very rare (1%) Very rare (<4-1%) HP:0000384
29 blue sclerae 60 33 very rare (1%) Very rare (<4-1%) HP:0000592
30 abnormality of cardiovascular system morphology 60 33 very rare (1%) Very rare (<4-1%) HP:0030680
31 isosexual precocious puberty 60 33 very rare (1%) Very rare (<4-1%) HP:0008236
32 moderately reduced visual acuity 60 33 very rare (1%) Very rare (<4-1%) HP:0030515
33 muscular hypotonia 33 HP:0001252
34 cataract 33 HP:0000518
35 microcephaly 33 HP:0000252
36 blindness 33 HP:0000618
37 intellectual disability, mild 33 HP:0001256
38 platyspondyly 33 HP:0000926
39 pathologic fracture 33 HP:0002756
40 kyphoscoliosis 33 HP:0002751
41 joint hypermobility 33 HP:0001382
42 ventricular septal defect 33 HP:0001629
43 abnormality of the vitreous humor 60 Frequent (79-30%)
44 generalized hypotonia 33 HP:0001290
45 phthisis bulbi 33 HP:0000667
46 barrel-shaped chest 33 HP:0001552
47 abnormality of lower limb bone 60 Frequent (79-30%)
48 glioma 33 HP:0009733
49 vitreoretinopathy 33 HP:0007773
50 iris atrophy 33 HP:0001089

Symptoms via clinical synopsis from OMIM:

58
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:
platyspondyly
kyphoscoliosis

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

MGI Mouse Phenotypes related to Osteoporosis-Pseudoglioma Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.91 CTNNB1 FZD4 LDLR LRP5 LRP8 NDP
2 cardiovascular system MP:0005385 9.8 CTNNB1 FZD4 LDLR LRP5 NDP
3 nervous system MP:0003631 9.8 CTNNB1 FZD4 LDLR LRP5 LRP8 NDP
4 cellular MP:0005384 9.77 CTNNB1 FZD4 LDLR LRP5 LRP8
5 no phenotypic analysis MP:0003012 9.56 CTNNB1 FZD4 LDLR NDP
6 normal MP:0002873 9.55 CTNNB1 FZD4 LDLR LRP5 LRP8
7 pigmentation MP:0001186 9.35 CTNNB1 FZD4 LDLR LRP5 NDP
8 vision/eye MP:0005391 9.02 CTNNB1 FZD4 LDLR LRP5 NDP

Drugs & Therapeutics for Osteoporosis-Pseudoglioma Syndrome

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

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lithium carbonate Approved Not Applicable 554-13-2
2
Sodium Citrate Approved, Investigational Not Applicable 68-04-2
3
Citric Acid Approved, Nutraceutical, Vet_approved Not Applicable 77-92-9 311
4 Citrate Not Applicable
5 Antidepressive Agents Not Applicable
6 Tranquilizing Agents Not Applicable
7 Antimanic Agents Not Applicable
8 Psychotropic Drugs Not Applicable
9 Central Nervous System Depressants Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Trial of Lithium Carbonate for Treatment of Osteoporosis-pseudoglioma Syndrome Completed NCT01108068 Not Applicable Lithium
2 Growth Hormone for Osteoporosis Pseudoglioma Syndrome Withdrawn NCT01614171 Not Applicable

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 30 LRP5

Anatomical Context for Osteoporosis-Pseudoglioma Syndrome

MalaCards organs/tissues related to Osteoporosis-Pseudoglioma Syndrome:

42
Bone, Eye, Skin, Heart

Publications for Osteoporosis-Pseudoglioma Syndrome

Articles related to Osteoporosis-Pseudoglioma Syndrome:

(show top 50) (show all 51)
# Title Authors Year
1
Osteoporosis-pseudoglioma syndrome: clinical, genetic, and treatment-response study of 10 new cases in Greece. ( 30499050 )
2019
2
LRP5-linked osteoporosis-pseudoglioma syndrome mimicking isolated microphthalmia. ( 28111184 )
2017
3
Novel mutations in the LRP5 gene in patients with Osteoporosis-pseudoglioma syndrome. ( 29055141 )
2017
4
Novel Homozygous LRP5 Mutations in Mexican Patients with Osteoporosis-Pseudoglioma Syndrome. ( 29131652 )
2017
5
Clinical and biochemical response to neridronate treatment in a patient with osteoporosis-pseudoglioma syndrome (OPPG). ( 28866852 )
2017
6
Variable Expressivity and Response to Bisphosphonate Therapy in a Family with Osteoporosis Pseudoglioma Syndrome. ( 28891484 )
2017
7
Osteoporosis-pseudoglioma syndrome: Report of two cases and a manifesting carrier. ( 28145787 )
2017
8
Osteoporosis-pseudoglioma syndrome in South Africa. ( 27245540 )
2016
9
Atypical femoral fracture in osteoporosis pseudoglioma syndrome associated with two novel compound heterozygous mutations in LRP5. ( 25384351 )
2015
10
Fractures on bisphosphonates in osteoporosis pseudoglioma syndrome (OPPG): pQCT shows poor bone density and structure. ( 25892485 )
2015
11
Congenital Bilateral Retinal Detachment in Two Siblings with Osteoporosis-Pseudoglioma Syndrome. ( 25945592 )
2015
12
Bone diseases: Sclerostin neutralization--a viable pathway for OPPG? ( 24296680 )
2014
13
Sclerostin inhibition reverses skeletal fragility in an Lrp5-deficient mouse model of OPPG syndrome. ( 24225945 )
2013
14
Osteoporosis-pseudoglioma syndrome: three novel mutations in the LRP5 gene and response to bisphosphonate treatment. ( 22456437 )
2012
15
Novel mutations affecting LRP5 splicing in patients with osteoporosis-pseudoglioma syndrome (OPPG). ( 21407258 )
2011
16
Various types of LRP5 mutations in four patients with osteoporosis-pseudoglioma syndrome: identification of a 7.2-kb microdeletion using oligonucleotide tiling microarray. ( 20034086 )
2010
17
Novel LRP5 gene mutation in a patient with osteoporosis-pseudoglioma syndrome. ( 20096619 )
2010
18
A mutation in the signal sequence of LRP5 in a family with an osteoporosis-pseudoglioma syndrome (OPPG)-like phenotype indicates a novel disease mechanism for trinucleotide repeats. ( 19177549 )
2009
19
Osteoporosis-pseudoglioma syndrome: description of 9 new cases and beneficial response to bisphosphonates. ( 18602879 )
2008
20
Three years follow-up of pamidronate therapy in two brothers with osteoporosis-pseudoglioma syndrome (OPPG) carrying an LRP5 mutation. ( 18825883 )
2008
21
Treatment and management of osteoporosis-pseudoglioma syndrome. ( 30754200 )
2008
22
Familial exudative vitreoretinopathy and osteoporosis-pseudoglioma syndrome caused by a mutation in the LRP5 gene. ( 17353424 )
2007
23
Osteoporosis-pseudoglioma syndrome may not be caused by persistent fetal vasculature. ( 17353427 )
2007
24
A novel mutation in the LRP5 gene is associated with osteoporosis-pseudoglioma syndrome. ( 17437160 )
2007
25
Asymmetrical ocular involvement and persistent fetal vasculature in an adult with osteoporosis-pseudoglioma syndrome. ( 16534066 )
2006
26
Effects of 3 years of intravenous pamidronate treatment on bone markers and bone mineral density in a patient with osteoporosis-pseudoglioma syndrome (OPPG). ( 16607930 )
2006
27
A family with osteoporosis pseudoglioma syndrome due to compound heterozygosity of two novel mutations in the LRP5 gene. ( 16679074 )
2006
28
Motor function improvement after intravenous pamidronate in osteoporosis pseudoglioma syndrome. ( 17095368 )
2006
29
Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes. ( 15981244 )
2005
30
LRP5 mutations in osteoporosis-pseudoglioma syndrome and high-bone-mass disorders. ( 15850991 )
2005
31
Clinical and molecular findings in osteoporosis-pseudoglioma syndrome. ( 16252235 )
2005
32
Congenital blindness and osteoporosis-pseudoglioma syndrome. ( 12690376 )
2003
33
Failure of operative treatment in a child with osteoporosis-pseudoglioma syndrome. ( 12771838 )
2003
34
Decreased bone density in carriers and patients of an Israeli family with the osteoporosis-pseudoglioma syndrome. ( 12841014 )
2003
35
Bilateral retinal detachments at birth: the osteoporosis pseudoglioma syndrome. ( 11561553 )
2001
36
LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development. ( 11719191 )
2001
37
Osteoporosis pseudoglioma syndrome: treatment of spinal osteoporosis with intravenous bisphosphonates. ( 10969269 )
2000
38
Osteoporosis pseudoglioma syndrome. ( 10713847 )
1999
39
Persistent hyperplastic primary vitreous in a family with osteoporosis-pseudoglioma syndrome. ( 9134299 )
1997
40
Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13. ( 8659519 )
1996
41
The osteoporosis pseudoglioma syndrome. ( 8294375 )
1993
42
Osteoporosis-pseudoglioma syndrome. ( 8418655 )
1993
43
Multiple fractures in a child: the osteoporosis pseudoglioma syndrome. A case report. ( 1400555 )
1992
44
Case report 613: Osteoporosis pseudoglioma syndrome. ( 2353218 )
1990
45
Osteoporosis-pseudoglioma syndrome: clinical, morphological, and biochemical studies. ( 3172149 )
1988
46
The osteoporosis pseudoglioma syndrome. Update and report on two affected siblings. ( 3174281 )
1988
47
Osteoporosis-pseudoglioma syndrome with congenital heart disease: a new association. ( 3351889 )
1988
48
Osteoporosis-pseudoglioma syndrome and the ocular form of osteogenesis imperfecta. ( 3698335 )
1986
49
Osteoporosis-pseudoglioma syndrome. ( 3698336 )
1986
50
Osteogenesis imperfecta or osteoporosis-pseudoglioma syndrome. ( 3802564 )
1986

Variations for Osteoporosis-Pseudoglioma Syndrome

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

76 (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

ClinVar genetic disease variations for Osteoporosis-Pseudoglioma Syndrome:

6 (show all 49)
# Gene Variation Type Significance SNP ID Assembly Location
1 LRP5 NM_002335.3(LRP5): c.29G> A (p.Trp10Ter) single nucleotide variant Pathogenic rs121908660 GRCh37 Chromosome 11, 68080211: 68080211
2 LRP5 NM_002335.3(LRP5): c.29G> A (p.Trp10Ter) single nucleotide variant Pathogenic rs121908660 GRCh38 Chromosome 11, 68312743: 68312743
3 LRP5 NM_002335.3(LRP5): c.1282C> T (p.Arg428Ter) single nucleotide variant Pathogenic rs121908661 GRCh37 Chromosome 11, 68154050: 68154050
4 LRP5 NM_002335.3(LRP5): c.1282C> T (p.Arg428Ter) single nucleotide variant Pathogenic rs121908661 GRCh38 Chromosome 11, 68386582: 68386582
5 LRP5 NM_002335.3(LRP5): c.1468del (p.Asp490Metfs) deletion Pathogenic rs1554967141 GRCh37 Chromosome 11, 68157404: 68157404
6 LRP5 NM_002335.3(LRP5): c.1468del (p.Asp490Metfs) deletion Pathogenic rs1554967141 GRCh38 Chromosome 11, 68389936: 68389936
7 LRP5 NM_002335.3(LRP5): c.2151dup (p.Asp718Terfs) duplication Pathogenic rs121908662 GRCh37 Chromosome 11, 68177441: 68177441
8 LRP5 NM_002335.3(LRP5): c.2151dup (p.Asp718Terfs) duplication Pathogenic rs121908662 GRCh38 Chromosome 11, 68409973: 68409973
9 LRP5 NM_002335.3(LRP5): c.2557C> T (p.Gln853Ter) single nucleotide variant Pathogenic rs121908663 GRCh37 Chromosome 11, 68181210: 68181210
10 LRP5 NM_002335.3(LRP5): c.2557C> T (p.Gln853Ter) single nucleotide variant Pathogenic rs121908663 GRCh38 Chromosome 11, 68413742: 68413742
11 LRP5 NM_002335.3(LRP5): c.3804del (p.Glu1270Argfs) deletion Pathogenic rs80358319 GRCh37 Chromosome 11, 68201110: 68201110
12 LRP5 NM_002335.3(LRP5): c.3804del (p.Glu1270Argfs) deletion Pathogenic rs80358319 GRCh38 Chromosome 11, 68433642: 68433642
13 LRP5 NM_002335.2(LRP5): c.1481G> A (p.Arg494Gln) single nucleotide variant Likely pathogenic rs121908664 GRCh37 Chromosome 11, 68157417: 68157417
14 LRP5 NM_002335.2(LRP5): c.1481G> A (p.Arg494Gln) single nucleotide variant Likely pathogenic rs121908664 GRCh38 Chromosome 11, 68389949: 68389949
15 LRP5 NM_002335.3(LRP5): c.1708C> T (p.Arg570Trp) single nucleotide variant Pathogenic rs121908665 GRCh37 Chromosome 11, 68171074: 68171074
16 LRP5 NM_002335.3(LRP5): c.1708C> T (p.Arg570Trp) single nucleotide variant Pathogenic rs121908665 GRCh38 Chromosome 11, 68403606: 68403606
17 LRP5 NM_002335.3(LRP5): c.1999G> A (p.Val667Met) single nucleotide variant Likely benign rs4988321 GRCh37 Chromosome 11, 68174189: 68174189
18 LRP5 NM_002335.3(LRP5): c.1999G> A (p.Val667Met) single nucleotide variant Likely benign rs4988321 GRCh38 Chromosome 11, 68406721: 68406721
19 LRP5 NM_002335.3(LRP5): c.1453G> T (p.Glu485Ter) single nucleotide variant Pathogenic rs121908666 GRCh37 Chromosome 11, 68157389: 68157389
20 LRP5 NM_002335.3(LRP5): c.1453G> T (p.Glu485Ter) single nucleotide variant Pathogenic rs121908666 GRCh38 Chromosome 11, 68389921: 68389921
21 LRP5 NM_002335.3(LRP5): c.2202G> A (p.Trp734Ter) single nucleotide variant Pathogenic rs121908667 GRCh37 Chromosome 11, 68177492: 68177492
22 LRP5 NM_002335.3(LRP5): c.2202G> A (p.Trp734Ter) single nucleotide variant Pathogenic rs121908667 GRCh38 Chromosome 11, 68410024: 68410024
23 LRP5 NM_002335.3(LRP5): c.2305del (p.Asp769Ilefs) deletion Pathogenic rs1554971145 GRCh37 Chromosome 11, 68177595: 68177595
24 LRP5 NM_002335.3(LRP5): c.2305del (p.Asp769Ilefs) deletion Pathogenic rs1554971145 GRCh38 Chromosome 11, 68410127: 68410127
25 LRP5 NM_002335.3(LRP5): c.433C> T (p.Leu145Phe) single nucleotide variant Pathogenic rs80358305 GRCh37 Chromosome 11, 68115656: 68115656
26 LRP5 NM_002335.3(LRP5): c.433C> T (p.Leu145Phe) single nucleotide variant Pathogenic rs80358305 GRCh38 Chromosome 11, 68348188: 68348188
27 LRP5 NM_002335.3(LRP5): c.1655C> T (p.Thr552Met) single nucleotide variant Pathogenic rs397514663 GRCh37 Chromosome 11, 68171021: 68171021
28 LRP5 NM_002335.3(LRP5): c.1655C> T (p.Thr552Met) single nucleotide variant Pathogenic rs397514663 GRCh38 Chromosome 11, 68403553: 68403553
29 LRP5 NM_002335.3(LRP5): c.1145C> T (p.Pro382Leu) single nucleotide variant Pathogenic rs397514664 GRCh37 Chromosome 11, 68153913: 68153913
30 LRP5 NM_002335.3(LRP5): c.1145C> T (p.Pro382Leu) single nucleotide variant Pathogenic rs397514664 GRCh38 Chromosome 11, 68386445: 68386445
31 LRP5 NM_002335.3(LRP5): c.731C> T (p.Thr244Met) single nucleotide variant Pathogenic rs397514665 GRCh37 Chromosome 11, 68131259: 68131259
32 LRP5 NM_002335.3(LRP5): c.731C> T (p.Thr244Met) single nucleotide variant Pathogenic rs397514665 GRCh38 Chromosome 11, 68363791: 68363791
33 LRP5 NM_002335.3(LRP5): c.4600C> T (p.Arg1534Ter) single nucleotide variant Pathogenic rs149645175 GRCh37 Chromosome 11, 68216290: 68216290
34 LRP5 NM_002335.3(LRP5): c.4600C> T (p.Arg1534Ter) single nucleotide variant Pathogenic rs149645175 GRCh38 Chromosome 11, 68448822: 68448822
35 LRP5 NM_002335.3(LRP5): c.1584+1G> A single nucleotide variant Pathogenic rs1554967176 GRCh37 Chromosome 11, 68157521: 68157521
36 LRP5 NM_002335.3(LRP5): c.1584+1G> A single nucleotide variant Pathogenic rs1554967176 GRCh38 Chromosome 11, 68390053: 68390053
37 LRP5 NC_000011.8 deletion Pathogenic NCBI36 Chromosome 11, 67967534: 67974774
38 LRP5 NM_002335.2(LRP5): c.3107G> A (p.Arg1036Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs61889560 GRCh37 Chromosome 11, 68191036: 68191036
39 LRP5 NM_002335.2(LRP5): c.3107G> A (p.Arg1036Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs61889560 GRCh38 Chromosome 11, 68423568: 68423568
40 LRP5 NM_002335.3(LRP5): c.1142A> G (p.Asp381Gly) single nucleotide variant Likely pathogenic rs886040977 GRCh38 Chromosome 11, 68386442: 68386442
41 LRP5 NM_002335.3(LRP5): c.1142A> G (p.Asp381Gly) single nucleotide variant Likely pathogenic rs886040977 GRCh37 Chromosome 11, 68153910: 68153910
42 LRP5 NM_002335.2(LRP5): c.2737_2738insT (p.Cys913Leufs) duplication Pathogenic rs886043590 GRCh37 Chromosome 11, 68181390: 68181390
43 LRP5 NM_002335.2(LRP5): c.2737_2738insT (p.Cys913Leufs) duplication Pathogenic rs886043590 GRCh38 Chromosome 11, 68413922: 68413922
44 LRP5 NM_002335.3(LRP5): c.205G> T (p.Asp69Tyr) single nucleotide variant Likely pathogenic rs1057519574 GRCh37 Chromosome 11, 68115428: 68115428
45 LRP5 NM_002335.3(LRP5): c.205G> T (p.Asp69Tyr) single nucleotide variant Likely pathogenic rs1057519574 GRCh38 Chromosome 11, 68347960: 68347960
46 LRP5 NM_002335.3(LRP5): c.4489-2A> G single nucleotide variant Likely pathogenic rs1057519575 GRCh38 Chromosome 11, 68446434: 68446434
47 LRP5 NM_002335.3(LRP5): c.4489-2A> G single nucleotide variant Likely pathogenic rs1057519575 GRCh37 Chromosome 11, 68213902: 68213902
48 LRP5 NM_002335.3(LRP5): c.1199C> T (p.Ala400Val) single nucleotide variant Uncertain significance rs201320326 GRCh38 Chromosome 11, 68386499: 68386499
49 LRP5 NM_002335.3(LRP5): c.1199C> T (p.Ala400Val) single nucleotide variant Uncertain significance rs201320326 GRCh37 Chromosome 11, 68153967: 68153967

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:

38
# Name Kegg Source Accession
1 Wnt signaling pathway hsa04310

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

(show all 20)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.51 CTNNB1 FZD4 LRP5
2 12.47 CTNNB1 FZD4 LRP5
3
Show member pathways
12.39 CTNNB1 FZD4 LRP5
4 12.03 CTNNB1 FZD4 LRP5
5
Show member pathways
11.92 CTNNB1 FZD4 LRP5
6 11.72 CTNNB1 FZD4 LRP5
7
Show member pathways
11.71 CTNNB1 FZD4 LDLR LRP5
8 11.65 CTNNB1 LDLR
9 11.63 CTNNB1 FZD4
10
Show member pathways
11.6 CTNNB1 FZD4 LRP5
11 11.43 CTNNB1 LRP5
12 11.37 CTNNB1 FZD4
13 11.3 CTNNB1 FZD4
14 11.23 CTNNB1 LRP5
15 11 CTNNB1 LRP5
16 10.94 CTNNB1 FZD4 LRP5 LRP8
17 10.93 CTNNB1 FZD4 LRP5 LRP8
18
Show member pathways
10.92 FZD4 LRP5
19 10.85 FZD4 LRP5
20 10.75 CTNNB1 LRP5

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 cell surface GO:0009986 9.5 FZD4 LDLR NDP
2 apical part of cell GO:0045177 9.26 CTNNB1 LDLR
3 clathrin-coated endocytic vesicle membrane GO:0030669 9.16 FZD4 LDLR
4 receptor complex GO:0043235 9.13 LDLR LRP5 LRP8
5 Wnt signalosome GO:1990909 8.62 CTNNB1 LRP5

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.71 CTNNB1 FZD4 LRP5 NDP
2 endocytosis GO:0006897 9.61 LDLR LRP5 LRP8
3 cholesterol homeostasis GO:0042632 9.55 LDLR LRP5
4 positive regulation of osteoblast differentiation GO:0045669 9.54 CTNNB1 LRP5
5 positive regulation of DNA-binding transcription factor activity GO:0051091 9.54 CTNNB1 FZD4 NDP
6 vasculogenesis GO:0001570 9.52 CTNNB1 FZD4
7 cellular response to growth factor stimulus GO:0071363 9.51 CTNNB1 LRP8
8 Wnt signaling pathway, calcium modulating pathway GO:0007223 9.49 CTNNB1 FZD4
9 positive regulation of mesenchymal cell proliferation GO:0002053 9.48 CTNNB1 LRP5
10 gastrulation with mouth forming second GO:0001702 9.46 CTNNB1 LRP5
11 retina vasculature morphogenesis in camera-type eye GO:0061299 9.32 FZD4 NDP
12 retinal blood vessel morphogenesis GO:0061304 9.26 FZD4 LRP5
13 Wnt signaling pathway GO:0016055 9.26 CTNNB1 FZD4 LRP5 NDP
14 extracellular matrix-cell signaling GO:0035426 9.16 FZD4 NDP
15 canonical Wnt signaling pathway GO:0060070 8.92 CTNNB1 FZD4 LRP5 NDP

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

# Name GO ID Score Top Affiliating Genes
1 amyloid-beta binding GO:0001540 9.32 FZD4 LDLR
2 Wnt-protein binding GO:0017147 9.26 FZD4 LRP5
3 Wnt-activated receptor activity GO:0042813 9.16 FZD4 LRP5
4 low-density lipoprotein particle receptor activity GO:0005041 8.96 LDLR LRP8
5 very-low-density lipoprotein particle receptor activity GO:0030229 8.62 LDLR LRP8

Sources for Osteoporosis-Pseudoglioma Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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