MCID: OST024
MIFTS: 55

Osteoporosis-Pseudoglioma Syndrome

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

Aliases & Classifications for Osteoporosis-Pseudoglioma Syndrome

MalaCards integrated aliases for Osteoporosis-Pseudoglioma Syndrome:

Name: Osteoporosis-Pseudoglioma Syndrome 57 12 53 25 59 75 37 13 55 44 15 40
Oppg 57 12 53 25 59 75
Osteoporosis with Pseudoglioma 29 6 73
Ops 57 53 75
Ocular Form of Osteogenesis Imperfecta 12 59
Osteogenesis Imperfecta, Ocular Form 57 25
Osteogenesis Imperfecta Ocular Form 53 75
Osteoporosis Pseudoglioma Syndrome 53
Pseudoglioma with Bone Fragility 53

Characteristics:

Orphanet epidemiological data:

59
osteoporosis-pseudoglioma syndrome
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset of bone fragility in childhood


HPO:

32
osteoporosis-pseudoglioma syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Osteoporosis-Pseudoglioma Syndrome

Genetics Home Reference : 25 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 retinal detachment. 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 Citric Acid and Antidepressive Agents have been mentioned in the context of this disorder. Affiliated tissues include bone, eye and heart, and related phenotypes are muscular hypotonia and cataract

UniProtKB/Swiss-Prot : 75 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.

NIH Rare Diseases : 53 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.

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.

Description 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 all 17)
# Related Disease Score Top Affiliating Genes
1 persistent hyperplastic primary vitreous 29.2 FZD4 NDP
2 retinal detachment 28.5 CTNNB1 FZD4 LRP5 NDP
3 exudative vitreoretinopathy 28.3 CTNNB1 FZD4 LRP5 NDP
4 osteoporosis 10.9
5 persistent hyperplastic primary vitreous, autosomal recessive 10.2
6 brittle bone disorder 10.2
7 retinitis 10.2
8 microphthalmia 10.0
9 heart disease 10.0
10 retinal telangiectasia 9.8 FZD4 NDP
11 sclerosteosis 2 9.6 CTNNB1 LRP5
12 leukocoria 9.5 FZD4 LRP5 NDP
13 coats disease 9.5 FZD4 LRP5 NDP
14 retinal vascular disease 9.4 FZD4 LRP5 NDP
15 norrie disease 9.4 FZD4 LRP5 NDP
16 craniodiaphyseal dysplasia 8.9 CTNNB1 LDLR LRP5
17 exudative vitreoretinopathy 1 8.9 CTNNB1 FZD4 LRP5 NDP

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



Diseases related to Osteoporosis-Pseudoglioma Syndrome

Symptoms & Phenotypes for Osteoporosis-Pseudoglioma Syndrome

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Osteoporosis-Pseudoglioma Syndrome:

32 (show all 22)
# Description HPO Frequency HPO Source Accession
1 muscular hypotonia 32 HP:0001252
2 cataract 32 HP:0000518
3 microcephaly 32 HP:0000252
4 short stature 32 HP:0004322
5 blindness 32 HP:0000618
6 intellectual disability, mild 32 HP:0001256
7 osteoporosis 32 HP:0000939
8 platyspondyly 32 HP:0000926
9 pathologic fracture 32 HP:0002756
10 microphthalmia 32 HP:0000568
11 joint hypermobility 32 HP:0001382
12 ventricular septal defect 32 HP:0001629
13 phthisis bulbi 32 HP:0000667
14 kyphoscoliosis 32 HP:0002751
15 generalized hypotonia 32 HP:0001290
16 barrel-shaped chest 32 HP:0001552
17 increased susceptibility to fractures 32 HP:0002659
18 metaphyseal widening 32 HP:0003016
19 glioma 32 HP:0009733
20 vitreoretinopathy 32 HP:0007773
21 iris atrophy 32 HP:0001089
22 absent anterior chamber of the eye 32 HP:0008037

MGI Mouse Phenotypes related to Osteoporosis-Pseudoglioma Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.88 CTNNB1 FZD4 LDLR LRP5 LRP8 NDP
2 nervous system MP:0003631 9.8 LRP8 NDP CTNNB1 FZD4 LDLR LRP5
3 cardiovascular system MP:0005385 9.77 CTNNB1 FZD4 LDLR LRP5 NDP
4 no phenotypic analysis MP:0003012 9.56 CTNNB1 FZD4 LDLR NDP
5 normal MP:0002873 9.55 CTNNB1 FZD4 LDLR LRP5 LRP8
6 pigmentation MP:0001186 9.35 CTNNB1 FZD4 LDLR LRP5 NDP
7 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 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Citric Acid Approved, Nutraceutical, Vet_approved Not Applicable 77-92-9 311
2 Antidepressive Agents Not Applicable
3 Antimanic Agents Not Applicable
4 Central Nervous System Depressants Not Applicable
5 Lithium carbonate Not Applicable 554-13-2
6 Psychotropic Drugs Not Applicable
7 Tranquilizing Agents Not Applicable
8 Citrate Nutraceutical 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 29 LRP5

Anatomical Context for Osteoporosis-Pseudoglioma Syndrome

MalaCards organs/tissues related to Osteoporosis-Pseudoglioma Syndrome:

41
Bone, Eye, Heart

Publications for Osteoporosis-Pseudoglioma Syndrome

Articles related to Osteoporosis-Pseudoglioma Syndrome:

(show all 45)
# Title Authors Year
1
Osteoporosis-pseudoglioma syndrome: Report of two cases and a manifesting carrier. ( 28145787 )
2017
2
LRP5-linked osteoporosis-pseudoglioma syndrome mimicking isolated microphthalmia. ( 28111184 )
2017
3
Clinical and biochemical response to neridronate treatment in a patient with osteoporosis-pseudoglioma syndrome (OPPG). ( 28866852 )
2017
4
Variable Expressivity and Response to Bisphosphonate Therapy in a Family with Osteoporosis Pseudoglioma Syndrome. ( 28891484 )
2017
5
Novel mutations in the LRP5 gene in patients with Osteoporosis-pseudoglioma syndrome. ( 29055141 )
2017
6
Novel Homozygous LRP5 Mutations in Mexican Patients with Osteoporosis-Pseudoglioma Syndrome. ( 29131652 )
2017
7
Osteoporosis-pseudoglioma syndrome in South Africa. ( 27245540 )
2016
8
Fractures on bisphosphonates in osteoporosis pseudoglioma syndrome (OPPG): pQCT shows poor bone density and structure. ( 25892485 )
2015
9
Congenital Bilateral Retinal Detachment in Two Siblings with Osteoporosis-Pseudoglioma Syndrome. ( 25945592 )
2015
10
Atypical Femoral Fracture in Osteoporosis Pseudoglioma Syndrome Associated With Two Novel Compound Heterozygous Mutations in LRP5. ( 25384351 )
2014
11
Osteoporosis-pseudoglioma syndrome: three novel mutations in the LRP5 gene and response to bisphosphonate treatment. ( 22456437 )
2012
12
Novel mutations affecting LRP5 splicing in patients with osteoporosis-pseudoglioma syndrome (OPPG). ( 21407258 )
2011
13
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
14
Novel LRP5 gene mutation in a patient with osteoporosis-pseudoglioma syndrome. ( 20096619 )
2010
15
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
16
Three years follow-up of pamidronate therapy in two brothers with osteoporosis-pseudoglioma syndrome (OPPG) carrying an LRP5 mutation. ( 18825883 )
2008
17
Osteoporosis-pseudoglioma syndrome: description of 9 new cases and beneficial response to bisphosphonates. ( 18602879 )
2008
18
A novel mutation in the LRP5 gene is associated with osteoporosis- pseudoglioma syndrome. ( 17437160 )
2007
19
Osteoporosis-pseudoglioma syndrome may not be caused by persistent fetal vasculature. ( 17353427 )
2007
20
Familial exudative vitreoretinopathy and osteoporosis-pseudoglioma syndrome caused by a mutation in the LRP5 gene. ( 17353424 )
2007
21
Motor function improvement after intravenous pamidronate in osteoporosis pseudoglioma syndrome. ( 17095368 )
2006
22
A family with osteoporosis pseudoglioma syndrome due to compound heterozygosity of two novel mutations in the LRP5 gene. ( 16679074 )
2006
23
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
24
Asymmetrical ocular involvement and persistent fetal vasculature in an adult with osteoporosis-pseudoglioma syndrome. ( 16534066 )
2006
25
LRP5 mutations in osteoporosis-pseudoglioma syndrome and high-bone-mass disorders. ( 15850991 )
2005
26
Clinical and molecular findings in osteoporosis-pseudoglioma syndrome. ( 16252235 )
2005
27
Decreased bone density in carriers and patients of an Israeli family with the osteoporosis-pseudoglioma syndrome. ( 12841014 )
2003
28
Congenital blindness and osteoporosis-pseudoglioma syndrome. ( 12690376 )
2003
29
Failure of operative treatment in a child with osteoporosis-pseudoglioma syndrome. ( 12771838 )
2003
30
Bilateral retinal detachments at birth: the osteoporosis pseudoglioma syndrome. ( 11561553 )
2001
31
Osteoporosis pseudoglioma syndrome: treatment of spinal osteoporosis with intravenous bisphosphonates. ( 10969269 )
2000
32
Osteoporosis pseudoglioma syndrome. ( 10713847 )
1999
33
Persistent hyperplastic primary vitreous in a family with osteoporosis-pseudoglioma syndrome. ( 9134299 )
1997
34
Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13. ( 8659519 )
1996
35
The osteoporosis pseudoglioma syndrome. ( 8294375 )
1993
36
Osteoporosis-pseudoglioma syndrome. ( 8418655 )
1993
37
Multiple fractures in a child: the osteoporosis pseudoglioma syndrome. A case report. ( 1400555 )
1992
38
Case report 613: Osteoporosis pseudoglioma syndrome. ( 2353218 )
1990
39
The osteoporosis pseudoglioma syndrome. Update and report on two affected siblings. ( 3174281 )
1988
40
Osteoporosis-pseudoglioma syndrome with congenital heart disease: a new association. ( 3351889 )
1988
41
Osteoporosis-pseudoglioma syndrome: clinical, morphological, and biochemical studies. ( 3172149 )
1988
42
Osteoporosis-pseudoglioma syndrome. ( 3698336 )
1986
43
Osteogenesis imperfecta or osteoporosis-pseudoglioma syndrome. ( 3802564 )
1986
44
Osteoporosis-pseudoglioma syndrome and the ocular form of osteogenesis imperfecta. ( 3698335 )
1986
45
Osteoporosis-pseudoglioma syndrome: report of three affected sibs and an overview. ( 3931475 )
1985

Variations for Osteoporosis-Pseudoglioma Syndrome

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

75 (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
6 LRP5 p.Arg348Trp VAR_063948
7 LRP5 p.Arg353Gln VAR_063949
8 LRP5 p.Ser356Leu VAR_063950
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
13 LRP5 p.Asp434Asn VAR_063955 rs757888034
14 LRP5 p.Glu460Lys VAR_063959 rs866606166
15 LRP5 p.Trp478Arg VAR_063960
16 LRP5 p.Trp504Cys VAR_063961
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
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 43)
# 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.1468delG (p.Asp490Metfs) deletion Pathogenic GRCh37 Chromosome 11, 68157404: 68157404
6 LRP5 NM_002335.3(LRP5): c.1468delG (p.Asp490Metfs) deletion Pathogenic GRCh38 Chromosome 11, 68389936: 68389936
7 LRP5 NM_002335.3(LRP5): c.2151dupT (p.Asp718Terfs) duplication Pathogenic rs121908662 GRCh37 Chromosome 11, 68177441: 68177441
8 LRP5 NM_002335.3(LRP5): c.2151dupT (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.3804delA (p.Glu1270Argfs) deletion Pathogenic rs80358319 GRCh37 Chromosome 11, 68201110: 68201110
12 LRP5 NM_002335.3(LRP5): c.3804delA (p.Glu1270Argfs) deletion Pathogenic rs80358319 GRCh38 Chromosome 11, 68433642: 68433642
13 LRP5 NM_002335.3(LRP5): c.1481G> A (p.Arg494Gln) single nucleotide variant Likely pathogenic rs121908664 GRCh37 Chromosome 11, 68157417: 68157417
14 LRP5 NM_002335.3(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.1453G> T (p.Glu485Ter) single nucleotide variant Pathogenic rs121908666 GRCh37 Chromosome 11, 68157389: 68157389
18 LRP5 NM_002335.3(LRP5): c.1453G> T (p.Glu485Ter) single nucleotide variant Pathogenic rs121908666 GRCh38 Chromosome 11, 68389921: 68389921
19 LRP5 NM_002335.3(LRP5): c.2202G> A (p.Trp734Ter) single nucleotide variant Pathogenic rs121908667 GRCh37 Chromosome 11, 68177492: 68177492
20 LRP5 NM_002335.3(LRP5): c.2202G> A (p.Trp734Ter) single nucleotide variant Pathogenic rs121908667 GRCh38 Chromosome 11, 68410024: 68410024
21 LRP5 NM_002335.3(LRP5): c.2305delG (p.Asp769Ilefs) deletion Pathogenic GRCh37 Chromosome 11, 68177595: 68177595
22 LRP5 NM_002335.3(LRP5): c.2305delG (p.Asp769Ilefs) deletion Pathogenic GRCh38 Chromosome 11, 68410127: 68410127
23 LRP5 NM_002335.3(LRP5): c.433C> T (p.Leu145Phe) single nucleotide variant Pathogenic rs80358305 GRCh37 Chromosome 11, 68115656: 68115656
24 LRP5 NM_002335.3(LRP5): c.433C> T (p.Leu145Phe) single nucleotide variant Pathogenic rs80358305 GRCh38 Chromosome 11, 68348188: 68348188
25 LRP5 NM_002335.3(LRP5): c.1655C> T (p.Thr552Met) single nucleotide variant Pathogenic rs397514663 GRCh37 Chromosome 11, 68171021: 68171021
26 LRP5 NM_002335.3(LRP5): c.1655C> T (p.Thr552Met) single nucleotide variant Pathogenic rs397514663 GRCh38 Chromosome 11, 68403553: 68403553
27 LRP5 NM_002335.3(LRP5): c.1145C> T (p.Pro382Leu) single nucleotide variant Pathogenic rs397514664 GRCh37 Chromosome 11, 68153913: 68153913
28 LRP5 NM_002335.3(LRP5): c.1145C> T (p.Pro382Leu) single nucleotide variant Pathogenic rs397514664 GRCh38 Chromosome 11, 68386445: 68386445
29 LRP5 NM_002335.3(LRP5): c.731C> T (p.Thr244Met) single nucleotide variant Pathogenic rs397514665 GRCh37 Chromosome 11, 68131259: 68131259
30 LRP5 NM_002335.3(LRP5): c.731C> T (p.Thr244Met) single nucleotide variant Pathogenic rs397514665 GRCh38 Chromosome 11, 68363791: 68363791
31 LRP5 NM_002335.3(LRP5): c.4600C> T (p.Arg1534Ter) single nucleotide variant Pathogenic rs149645175 GRCh37 Chromosome 11, 68216290: 68216290
32 LRP5 NM_002335.3(LRP5): c.4600C> T (p.Arg1534Ter) single nucleotide variant Pathogenic rs149645175 GRCh38 Chromosome 11, 68448822: 68448822
33 LRP5 NM_002335.3(LRP5): c.1584+1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 11, 68157521: 68157521
34 LRP5 NM_002335.3(LRP5): c.1584+1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 11, 68390053: 68390053
35 LRP5 NC_000011.8 deletion Pathogenic
36 LRP5 NM_002335.3(LRP5): c.1142A> G (p.Asp381Gly) single nucleotide variant Likely pathogenic rs886040977 GRCh38 Chromosome 11, 68386442: 68386442
37 LRP5 NM_002335.3(LRP5): c.1142A> G (p.Asp381Gly) single nucleotide variant Likely pathogenic rs886040977 GRCh37 Chromosome 11, 68153910: 68153910
38 LRP5 NM_002335.3(LRP5): c.2737dupT (p.Cys913Leufs) duplication Pathogenic rs886043590 GRCh37 Chromosome 11, 68181390: 68181390
39 LRP5 NM_002335.3(LRP5): c.2737dupT (p.Cys913Leufs) duplication Pathogenic rs886043590 GRCh38 Chromosome 11, 68413922: 68413922
40 LRP5 NM_002335.3(LRP5): c.205G> T (p.Asp69Tyr) single nucleotide variant Likely pathogenic rs1057519574 GRCh37 Chromosome 11, 68115428: 68115428
41 LRP5 NM_002335.3(LRP5): c.205G> T (p.Asp69Tyr) single nucleotide variant Likely pathogenic rs1057519574 GRCh38 Chromosome 11, 68347960: 68347960
42 LRP5 NM_002335.3(LRP5): c.4489-2A> G single nucleotide variant Likely pathogenic rs1057519575 GRCh38 Chromosome 11, 68446434: 68446434
43 LRP5 NM_002335.3(LRP5): c.4489-2A> G single nucleotide variant Likely pathogenic rs1057519575 GRCh37 Chromosome 11, 68213902: 68213902

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:

37
# Name Kegg Source Accession
1 Wnt signaling pathway hsa04310

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

(show all 19)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.51 CTNNB1 FZD4 LRP5
2 12.45 CTNNB1 FZD4 LRP5
3
Show member pathways
12.38 CTNNB1 FZD4 LRP5
4
Show member pathways
12.13 CTNNB1 FZD4 LRP5
5
Show member pathways
11.77 CTNNB1 FZD4 LDLR LRP5
6 11.65 CTNNB1 FZD4 LRP5
7 11.64 CTNNB1 LDLR
8 11.62 CTNNB1 FZD4
9
Show member pathways
11.58 CTNNB1 FZD4 LRP5
10
Show member pathways
11.51 CTNNB1 FZD4 LRP5
11 11.42 CTNNB1 LRP5
12 11.36 CTNNB1 FZD4
13 11.29 CTNNB1 FZD4
14 11.22 CTNNB1 LRP5
15 10.95 CTNNB1 LRP5
16
Show member pathways
10.9 FZD4 LRP5
17 10.82 FZD4 LRP5
18 10.7 CTNNB1 LRP5
19 10.61 CTNNB1 FZD4 LRP5 LRP8

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 18)
# 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 9.63 LDLR LRP5 LRP8
3 Wnt signaling pathway GO:0016055 9.62 CTNNB1 FZD4 LRP5 NDP
4 cholesterol metabolic process GO:0008203 9.58 LDLR LRP5
5 cholesterol homeostasis GO:0042632 9.57 LDLR LRP5
6 vasculogenesis GO:0001570 9.56 CTNNB1 FZD4
7 positive regulation of DNA binding transcription factor activity GO:0051091 9.56 CTNNB1 FZD4 LRP5 NDP
8 embryonic digit morphogenesis GO:0042733 9.55 CTNNB1 LRP5
9 cellular response to growth factor stimulus GO:0071363 9.54 CTNNB1 LRP8
10 Wnt signaling pathway, calcium modulating pathway GO:0007223 9.52 CTNNB1 FZD4
11 positive regulation of mesenchymal cell proliferation GO:0002053 9.51 CTNNB1 LRP5
12 vasculature development GO:0001944 9.49 CTNNB1 LRP5
13 beta-catenin destruction complex disassembly GO:1904886 9.48 CTNNB1 LRP5
14 canonical Wnt signaling pathway GO:0060070 9.46 CTNNB1 FZD4 LRP5 NDP
15 gastrulation with mouth forming second GO:0001702 9.43 CTNNB1 LRP5
16 retinal blood vessel morphogenesis GO:0061304 9.37 FZD4 LRP5
17 retina vasculature morphogenesis in camera-type eye GO:0061299 9.13 FZD4 LRP5 NDP
18 extracellular matrix-cell signaling GO:0035426 8.8 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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