MCID: OST024
MIFTS: 55

Osteoporosis-Pseudoglioma Syndrome malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Bone diseases, Fetal diseases categories

Aliases & Classifications for Osteoporosis-Pseudoglioma Syndrome

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Sources:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 51Orphanet, 24GTR, 65UMLS, 67UniProtKB/Swiss-Prot, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 27ICD10, 34MedGen, 36MeSH
See all sources

Aliases & Descriptions for Osteoporosis-Pseudoglioma Syndrome:

Name: Osteoporosis-Pseudoglioma Syndrome 49 11 45 23 47 67
Oppg 45 23 51 67
Osteogenesis Imperfecta Ocular Form 45 22 67
Osteoporosis Pseudoglioma Syndrome 45 22
Osteoporosis - Pseudoglioma 51 24
 
Ops 45 67
Ocular Form of Osteogenesis Imperfecta 51
Osteogenesis Imperfecta, Ocular Form 23
Pseudoglioma with Bone Fragility 45
Osteoporosis with Pseudoglioma 65


Classifications:



Characteristics (Orphanet epidemiological data):

51
oppg:
Inheritance: Autosomal recessive; Age of onset: Childhood


External Ids:

OMIM49 259770
Orphanet51 2788
ICD10 via Orphanet28 Q87.5
MESH via Orphanet37 C536063
UMLS via Orphanet66 C0432252
MedGen34 C0432252
MeSH36 D010013

Summaries for Osteoporosis-Pseudoglioma Syndrome

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Genetics Home Reference:23 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 bone structure disease and osteoporosis, and has symptoms including visual impairment, cataract and muscular hypotonia. An important gene associated with Osteoporosis-Pseudoglioma Syndrome is LRP5 (Low Density Lipoprotein Receptor-Related Protein 5), and among its related pathways are Regulation of FZD by ubiquitination and N-cadherin signaling events. Affiliated tissues include bone, eye and heart, and related mouse phenotypes are reproductive system and normal.

UniProtKB/Swiss-Prot:67 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:49 259770

Related Diseases for Osteoporosis-Pseudoglioma Syndrome

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

(show top 50)    (show all 58)
idRelated DiseaseScoreTop Affiliating Genes
1bone structure disease30.3CTNNB1, LRP5
2osteoporosis11.0
3osteogenesis imperfecta10.5
4mucopolysaccharidosis iva10.4
5norrie disease10.4
6child syndrome10.4
7mucopolysaccharidosis iv10.4
8foster-kennedy syndrome10.4
9infantile epileptic encephalopathy10.4
10spiradenoma10.4
11secondary syphilis10.4
12bone development disease10.4
13collagen disease10.4
14connective tissue disease10.4
15epilepsy syndrome10.4
16eye disease10.4
17idiopathic generalized epilepsy10.4
18optic nerve disease10.4
19osteochondrodysplasia10.4
20retinal detachment10.4
21retinitis10.4
22genetic brain disorders10.4
23neurologic diseases10.4
24kid syndrome10.4
25marchiafava bignami disease10.4
26osteogenesis imperfecta congenita microcephaly and cataracts10.4
27skeletal dysplasias10.4
28skeletal dysplasia10.4
29seizure disorder10.4
30amish infantile epilepsy syndrome10.2
31anemia, sideroblastic, pyridoxine-refractory, autosomal recessive10.2
32adult syndrome10.2
33mass syndrome10.2
34n syndrome10.2
35bone fracture10.2
36muscle disorders10.2
37exudative vitreoretinopathy10.2
38persistent hyperplastic primary vitreous10.2
39autosomal genetic disease10.2
40autosomal recessive disease10.2
41congenital heart disease10.2
42globe disease10.2
43muscle tissue disease10.2
44myopathy10.2
45muscle eye brain disease10.2
46retinal vascular disease10.1FZD4, NDP
47villous adenoma10.1FZD4, NDP
48hypopyon ulcer10.0FZD4, LRP5, NDP
49primary pigmented nodular adrenocortical disease10.0FZD4, NDP
50exudative vitreoretinopathy 2, x-linked10.0FZD4, LRP5, NDP

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



Diseases related to osteoporosis-pseudoglioma syndrome

Symptoms for Osteoporosis-Pseudoglioma Syndrome

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Symptoms by clinical synopsis from OMIM:

259770

Clinical features from OMIM:

259770

Symptoms:

 51 (show all 21)
  • anophthalmos/anophthalmia/microphthalmos/microphthalmia
  • cataract/lens opacification
  • visual loss/blindness/amblyopia
  • abnormal vertebral size/shape
  • hypotonia
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • mutiple fractures/bone fragility
  • delayed bone age
  • bowed diaphysis/diaphyses/long bones
  • hyperextensible joints/articular hyperlaxity
  • autosomal recessive inheritance
  • pupillary anomalies/mydriasis/myosis/tonic pupil
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • short stature/dwarfism/nanism
  • micrognathia/retrognathia/micrognathism/retrognathism
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • depressed nasal bridge
  • kyphosis
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • low hair line (back)
  • generalized obesity

HPO human phenotypes related to Osteoporosis-Pseudoglioma Syndrome:

(show all 41)
id Description Frequency HPO Source Accession
1 visual impairment hallmark (90%) HP:0000505
2 cataract hallmark (90%) HP:0000518
3 muscular hypotonia hallmark (90%) HP:0001252
4 joint hypermobility hallmark (90%) HP:0001382
5 delayed skeletal maturation hallmark (90%) HP:0002750
6 recurrent fractures hallmark (90%) HP:0002757
7 abnormal form of the vertebral bodies hallmark (90%) HP:0003312
8 reduced bone mineral density hallmark (90%) HP:0004349
9 bowing of the long bones hallmark (90%) HP:0006487
10 aplasia/hypoplasia affecting the eye hallmark (90%) HP:0008056
11 abnormality of the pupil typical (50%) HP:0000615
12 short stature typical (50%) HP:0004322
13 cognitive impairment typical (50%) HP:0100543
14 micrognathia occasional (7.5%) HP:0000347
15 optic atrophy occasional (7.5%) HP:0000648
16 obesity occasional (7.5%) HP:0001513
17 low posterior hairline occasional (7.5%) HP:0002162
18 kyphosis occasional (7.5%) HP:0002808
19 depressed nasal bridge occasional (7.5%) HP:0005280
20 abnormal hair quantity occasional (7.5%) HP:0011362
21 autosomal recessive inheritance HP:0000007
22 microcephaly HP:0000252
23 cataract HP:0000518
24 microphthalmos HP:0000568
25 blindness HP:0000618
26 phthisis bulbi HP:0000667
27 platyspondyly HP:0000926
28 osteoporosis HP:0000939
29 iris atrophy HP:0001089
30 muscular hypotonia HP:0001252
31 intellectual disability, mild HP:0001256
32 joint hypermobility HP:0001382
33 barrel-shaped chest HP:0001552
34 ventricular septal defect HP:0001629
35 kyphoscoliosis HP:0002751
36 pathologic fracture HP:0002756
37 metaphyseal widening HP:0003016
38 short stature HP:0004322
39 vitreoretinopathy HP:0007773
40 absent anterior eye chamber HP:0008037
41 glioma HP:0009733

Drugs & Therapeutics for Osteoporosis-Pseudoglioma Syndrome

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Lithiumapproved2067439-93-228486
Synonyms:
159577-72-7
201049_ALDRICH
207241_ALDRICH
207241_FLUKA
220914_ALDRICH
248827_ALDRICH
265969_ALDRICH
265977_ALDRICH
265985_ALDRICH
265993_ALDRICH
266000_ALDRICH
278327_ALDRICH
320080_ALDRICH
340421_ALDRICH
3Li
444456_ALDRICH
499811_ALDRICH
62500_FLUKA
64975-42-4
7439-93-2
7580-67-8
AB1003835
AC1MHL68
C15473
CHEBI:30145
CID3028194
D008094
D08133
EINECS 231-102-5
EINECS 231-484-3
Eskalith
HSD690000
HSDB 549
HSDB 647
HSDB 6900
Hydrure de lithium [French]
LITHIUM
LITHIUM HYDRIDE
 
LITHIUM HYDRIDE, 98.6%
LITHIUM ion
LS-88055
LS-88066
LTBB002851
Li
Li(+)
Li(+) cation
Li(+) ion
Lithium
Lithium Carbonate
Lithium [UN1415] [Dangerous when wet]
Lithium [UN1415] [Dangerous when wet]
Lithium atom
Lithium atomic absorption standard solution
Lithium carbonate
Lithium cation
Lithium compounds
Lithium element
Lithium hydride (LiH)
Lithium hydride [UN1414] [Dangerous when wet]
Lithium hydride [UN1414] [Dangerous when wet]
Lithium hydride, fused solid [UN2805] [Dangerous when wet]
Lithium hydride, fused solid [UN2805] [Dangerous when wet]
Lithium monohydride
Lithium, elemental
Lithium, ion
Lithium, ion (li1+)
Lithium, metallic
Lithium-6Li
LithoTab
Lithobid
MolPort-003-926-239
MolPort-003-927-072
Normothymin-E
Normothymin-E (TN)
UN1414
UN1415
UN2805
litio
2Lithium Carbonate206
3
Citric Acidnutraceutical78477-92-9311
Synonyms:
2-Hydroxy-1,2,3-propanetricarboxylate
2-Hydroxy-1,2,3-propanetricarboxylic acid
2-Hydroxytricarballylic acid
3-Carboxy-3-hydroxypentane-1,5-dioate
3-Carboxy-3-hydroxypentane-1,5-dioic acid
Aciletten
Anhydrous citrate
Anhydrous citric acid
Chemfill
Citraclean
 
Citrate
Citretten
Citric acid
Citro
Citronensäure
E 330
Hydrocerol A
Kyselina citronova
Suby G
Uro-trainer
beta-Hydroxytricarballylate
beta-Hydroxytricarballylic acid
4CitrateNutraceutical784

Interventional clinical trials:

idNameStatusNCT IDPhase
1Trial of Lithium Carbonate for Treatment of Osteoporosis-pseudoglioma SyndromeCompletedNCT01108068
2Growth Hormone for Osteoporosis Pseudoglioma SyndromeNot yet recruitingNCT01614171

Search NIH Clinical Center for Osteoporosis-Pseudoglioma Syndrome

Genetic Tests for Osteoporosis-Pseudoglioma Syndrome

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Genetic tests related to Osteoporosis-Pseudoglioma Syndrome:

id Genetic test Affiliating Genes
1 Osteoporosis Pseudoglioma Syndrome22 LRP5
2 Osteoporosis with Pseudoglioma24

Anatomical Context for Osteoporosis-Pseudoglioma Syndrome

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MalaCards organs/tissues related to Osteoporosis-Pseudoglioma Syndrome:

33
Bone, Eye, Heart

Animal Models for Osteoporosis-Pseudoglioma Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Osteoporosis-Pseudoglioma Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053898.2CTNNB1, FZD4, KREMEN1, LRP8, NDP
2MP:00028738.0CTNNB1, FZD4, KREMEN1, LDLR, LRP5, LRP8
3MP:00011867.9CTNNB1, FZD4, LDLR, LRP5, NDP, VLDLR
4MP:00053857.6CTNNB1, FZD4, LDLR, LRP5, NDP, VLDLR
5MP:00053847.6CTNNB1, FZD4, LDLR, LRP5, LRP8, VLDLR
6MP:00053917.5CTNNB1, FZD4, LDLR, LRP5, NDP, VLDLR
7MP:00053787.4CTNNB1, FZD4, LDLR, LRP5, LRP8, VLDLR
8MP:00053866.8CTNNB1, FZD4, LDLR, LRP5, LRP8, NDP
9MP:00036316.6CTNNB1, FZD4, LDLR, LRP5, LRP8, NDP

Publications for Osteoporosis-Pseudoglioma Syndrome

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Articles related to Osteoporosis-Pseudoglioma Syndrome:

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

Variations for Osteoporosis-Pseudoglioma Syndrome

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

67 (show all 24)
id Symbol AA change Variation ID SNP ID
1LRP5p.Arg494GlnVAR_021814
2LRP5p.Arg570TrpVAR_021815
3LRP5p.Asp203AsnVAR_063945
4LRP5p.Thr244MetVAR_063946
5LRP5p.Ser307PheVAR_063947
6LRP5p.Arg348TrpVAR_063948
7LRP5p.Arg353GlnVAR_063949
8LRP5p.Ser356LeuVAR_063950
9LRP5p.Thr390LysVAR_063951
10LRP5p.Ala400GluVAR_063952
11LRP5p.Gly404ArgVAR_063953
12LRP5p.Thr409AlaVAR_063954
13LRP5p.Asp434AsnVAR_063955
14LRP5p.Glu460LysVAR_063959
15LRP5p.Trp478ArgVAR_063960
16LRP5p.Trp504CysVAR_063961
17LRP5p.Gly520ValVAR_063963
18LRP5p.Asn531IleVAR_063965
19LRP5p.Gly610ArgVAR_063968
20LRP5p.Asp683AsnVAR_063970
21LRP5p.Tyr733HisVAR_063971
22LRP5p.Asp1099TyrVAR_063975
23LRP5p.Arg1113CysVAR_063976
24LRP5p.Gly1401AspVAR_063979

Clinvar genetic disease variations for Osteoporosis-Pseudoglioma Syndrome:

5 (show all 19)
id Gene Variation Type Significance SNP ID Assembly Location
1LRP5NM_002335.3(LRP5): c.1655C> T (p.Thr552Met)single nucleotide variantPathogenicrs397514663GRCh37Chr 11, 68171021: 68171021
2LRP5NM_002335.3(LRP5): c.1145C> T (p.Pro382Leu)single nucleotide variantPathogenicrs397514664GRCh37Chr 11, 68153913: 68153913
3LRP5NM_002335.3(LRP5): c.731C> T (p.Thr244Met)single nucleotide variantPathogenicrs397514665GRCh37Chr 11, 68131259: 68131259
4LRP5NM_002335.3(LRP5): c.4600C> T (p.Arg1534Ter)single nucleotide variantPathogenicrs149645175GRCh37Chr 11, 68216290: 68216290
5LRP5LRP5, IVS7, G-A, +1single nucleotide variantPathogenic
6LRP5LRP5, 7.2-KB DEL, EXONS 22-23deletionPathogenic
7LRP5NM_002335.3(LRP5): c.29G> A (p.Trp10Ter)single nucleotide variantPathogenicrs121908660GRCh37Chr 11, 68080211: 68080211
8LRP5NM_002335.3(LRP5): c.1282C> T (p.Arg428Ter)single nucleotide variantPathogenicrs121908661GRCh37Chr 11, 68154050: 68154050
9LRP5LRP5, 1-BP DEL, 1467GdeletionPathogenic
10LRP5NM_002335.3(LRP5): c.2151dupT (p.Asp718Terfs)duplicationPathogenicrs121908662GRCh37Chr 11, 68177441: 68177441
11LRP5NM_002335.3(LRP5): c.2557C> T (p.Gln853Ter)single nucleotide variantPathogenicrs121908663GRCh37Chr 11, 68181210: 68181210
12LRP5LRP5, 1-BP DEL, 3804AdeletionPathogenic
13LRP5NM_002335.3(LRP5): c.1481G> A (p.Arg494Gln)single nucleotide variantPathogenicrs121908664GRCh37Chr 11, 68157417: 68157417
14LRP5NM_002335.3(LRP5): c.1708C> T (p.Arg570Trp)single nucleotide variantPathogenicrs121908665GRCh37Chr 11, 68171074: 68171074
15LRP5NM_002335.3(LRP5): c.1999G> A (p.Val667Met)single nucleotide variantPathogenicrs4988321GRCh37Chr 11, 68174189: 68174189
16LRP5NM_002335.3(LRP5): c.1453G> T (p.Glu485Ter)single nucleotide variantPathogenicrs121908666GRCh37Chr 11, 68157389: 68157389
17LRP5NM_002335.3(LRP5): c.2202G> A (p.Trp734Ter)single nucleotide variantPathogenicrs121908667GRCh37Chr 11, 68177492: 68177492
18LRP5LRP5, 1-BP DEL, 2305GdeletionPathogenic
19LRP5NM_002335.3(LRP5): c.433C> T (p.Leu145Phe)single nucleotide variantPathogenicrs80358305GRCh37Chr 11, 68115656: 68115656

Expression for genes affiliated with Osteoporosis-Pseudoglioma Syndrome

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

Pathways for genes affiliated with Osteoporosis-Pseudoglioma Syndrome

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

(show all 16)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.7FZD4, LRP5
29.6CTNNB1, LRP5
3
Show member pathways
9.6KREMEN1, LRP5
4
Wnt signaling pathway (KEGG)
Show member pathways
9.2KREMEN1, LRP5
59.2CTNNB1, FZD4, LRP5
69.2FZD4, KREMEN1, LRP5
79.2LRP8, VLDLR
89.2LRP8, VLDLR
9
Show member pathways
9.2CTNNB1, FZD4, NDP
108.9CTNNB1, FZD4, LDLR
118.7CTNNB1, FZD4, KREMEN1, LRP5
12
Show member pathways
8.7CTNNB1, FZD4, KREMEN1, LRP5
13
Show member pathways
8.7CTNNB1, FZD4, KREMEN1, LRP5
14
Show member pathways
8.7CTNNB1, FZD4, KREMEN1, LRP5
15
Wnt Signaling Pathway (WikiPathways)
Show member pathways
8.6CTNNB1, FZD4, KREMEN1, LRP5
167.9CTNNB1, FZD4, LRP5, LRP8, VLDLR

GO Terms for genes affiliated with Osteoporosis-Pseudoglioma Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1clathrin-coated endocytic vesicle membraneGO:00306699.9FZD4, LDLR
2coated pitGO:00059059.6LDLR, VLDLR
3apical part of cellGO:00451778.7CTNNB1, LDLR, VLDLR
4receptor complexGO:00432358.6LDLR, LRP5, LRP8, VLDLR
5cell surfaceGO:00099868.2FZD4, LDLR, NDP, VLDLR
6membraneGO:00160206.8CTNNB1, FZD4, KREMEN1, LDLR, LRP8, VLDLR

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

(show all 26)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of mesenchymal cell proliferationGO:000205310.2CTNNB1, LRP5
2gastrulation with mouth forming secondGO:000170210.2CTNNB1, LRP5
3vasculature developmentGO:000194410.1CTNNB1, LRP5
4regulation of canonical Wnt signaling pathwayGO:006082810.1KREMEN1, LRP5
5extracellular matrix-cell signalingGO:003542610.1FZD4, LRP5, NDP
6embryonic digit morphogenesisGO:004273310.1CTNNB1, LRP5
7cholesterol homeostasisGO:004263210.1LDLR, LRP5
8retina vasculature morphogenesis in camera-type eyeGO:006129910.0FZD4, LRP5, NDP
9layer formation in cerebral cortexGO:002181910.0CTNNB1, LRP8
10vasculogenesisGO:000157010.0CTNNB1, FZD4
11positive regulation of sequence-specific DNA binding transcription factor activityGO:00510919.9FZD4, LRP5, NDP
12reelin-mediated signaling pathwayGO:00380269.8LRP8, VLDLR
13retinal blood vessel morphogenesisGO:00613049.8FZD4, LRP5
14cellular response to growth factor stimulusGO:00713639.8CTNNB1, LRP8
15retinoid metabolic processGO:00015239.7LDLR, LRP8
16positive regulation of dendrite developmentGO:19000069.7LRP8, VLDLR
17positive regulation of protein kinase activityGO:00458609.6LRP8, VLDLR
18canonical Wnt signaling pathwayGO:00600709.4CTNNB1, FZD4, LRP5, NDP
19cerebral cortex developmentGO:00219879.3LRP8, VLDLR
20positive regulation of transcription, DNA-templatedGO:00458939.1CTNNB1, FZD4, LRP5, NDP
21endocytosisGO:00068979.1LDLR, LRP5, LRP8
22cholesterol metabolic processGO:00082039.0LDLR, LRP5, VLDLR
23response to drugGO:00424938.9CTNNB1, LRP8, VLDLR
24receptor-mediated endocytosisGO:00068988.7LDLR, LRP8, VLDLR
25Wnt signaling pathwayGO:00160558.6CTNNB1, FZD4, KREMEN1, LRP5, NDP
26signal transductionGO:00071658.0CTNNB1, LRP5, LRP8, NDP, VLDLR

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1Wnt-activated receptor activityGO:004281310.0FZD4, LRP5
2Wnt-protein bindingGO:00171479.4FZD4, LRP5
3apolipoprotein bindingGO:00341859.4LRP8, VLDLR
4reelin receptor activityGO:00380259.4LRP8, VLDLR
5low-density lipoprotein receptor activityGO:00050419.0LDLR, VLDLR
6glycoprotein bindingGO:00019488.9LDLR, VLDLR
7very-low-density lipoprotein particle receptor activityGO:00302298.8LDLR, LRP8, VLDLR

Sources for Osteoporosis-Pseudoglioma Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet