MSeqDR Mitochondrial Disease Portal


 
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Parent Node:
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Osteogenesis Imperfecta (D010013)
..Starting node
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Osteoporosis-pseudoglioma syndrome (C536063)

       Child Nodes:



 Sister Nodes: 
..expandAl Gazali Sabrinathan Nair syndrome (C535617)
..expandAstley-Kendall syndrome (C535392)
..expandBruck syndrome 1 (C537406)
..expandBruck syndrome 2 (C537407)
..expandCole Carpenter syndrome (C535963)
..expandGNATHODIAPHYSEAL DYSPLASIA (OMIM:166260)
..expandGrant syndrome (C537293)
..expandLowry Maclean syndrome (C537037)
..expandOI-EDS Combined Syndrome (C565178)
..expandOsteogenesis imperfecta congenita, microcephaly, and cataracts (C537558)
..expandOsteogenesis Imperfecta Type VII (C565200)
..expandOsteogenesis Imperfecta with Opalescent Teeth, Blue Sclerae and Wormian Bones, but Without Fractures (C563487)
..expandOsteogenesis imperfecta, Levin type (C536039)
..expandOsteogenesis imperfecta, type 1A (C536041)
..expandOsteogenesis imperfecta, type 2A (C536042)
..expandOsteogenesis imperfecta, type 2B (C536043)
..expandOsteogenesis imperfecta, type 3 (C536044)
..expandOsteogenesis imperfecta, type 4 (C536045)
..expandOsteogenesis imperfecta, type 5 (C536046)
..expandOsteogenesis imperfecta, type 6 (C536047)
..expandOsteogenesis imperfecta, type 7 (C536048)
..expandOsteogenesis Imperfecta, Type IX (C564921)
..expandOsteogenesis Imperfecta, Type V (C567042)
..expandOsteogenesis imperfecta, type VIII (C536049)
..expandOSTEOGENESIS IMPERFECTA, TYPE X (OMIM:613848)
..expandOSTEOGENESIS IMPERFECTA, TYPE XI (OMIM:610968)
..expandOSTEOGENESIS IMPERFECTA, TYPE XII (OMIM:613849)
..expandOSTEOGENESIS IMPERFECTA, TYPE XIII (OMIM:614856)
..expandOSTEOGENESIS IMPERFECTA, TYPE XIV (OMIM:615066)
..expandOSTEOGENESIS IMPERFECTA, TYPE XV (OMIM:615220)
..expandOSTEOGENESIS IMPERFECTA, TYPE XVII (OMIM:616507)
..expandOsteopenic Nonfracture Syndrome (C567172)
..expandOsteoporosis-pseudoglioma syndrome (C536063)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:9323
Name:Osteoporosis-pseudoglioma syndrome
Definition:
Alternative IDs:DO:DOID:0060849|OMIM:259770
ParentIDs:MESH:D010013
TreeNumbers:C05.116.099.708.685/C536063 |C16.320.737/C536063 |C17.300.200.540/C536063
Synonyms:OPPG |OPS |Osteogenesis imperfecta, ocular form |Pseudoglioma with bone fragility
Slim Mappings:Connective tissue disease|Genetic disease (inborn)|Musculoskeletal disease
Reference: MedGen: C536063
MeSH: C536063
OMIM: 259770;
MSeqDR LSDB:  
Genes: LRP5;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0008037Absent anterior chamber of the eye
3 HP:0001552Barrel-shaped chest
4 HP:0000618Blindness
5 HP:0000518Cataract
NAMDC:  Cataracts
6 HP:0001290Generalized hypotonia
7 HP:0009733Glioma
8 HP:0002659Increased susceptibility to fractures
9 HP:0001256Intellectual disability, mild
10 HP:0001089Iris atrophy
11 HP:0001382Joint hypermobility
12 HP:0002751Kyphoscoliosis
13 HP:0003016Metaphyseal widening
14 HP:0000252Microcephaly
15 HP:0000568Microphthalmia
16 HP:0001252Muscular hypotonia
NAMDC:  Hypotonia
17 HP:0000939Osteoporosis
18 HP:0002756Pathologic fracture
19 HP:0000667Phthisis bulbi
20 HP:0000926Platyspondyly
21 HP:0004322Short stature
NAMDC:  Short stature (patient¡¯s height is below the 3rd percentile)
22 HP:0001629Ventricular septal defect
23 HP:0007773Vitreoretinopathy
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_002335.4(LRP5):c.29G>A (p.Trp10Ter)4041LRP5Pathogenicrs121908660RCV000006646; NMONDO:MONDO:0009820,MedGen:C0432252,OMIM:259770, Orphanet:2788116808021168080211GA11:g.68080211G>AClinGen:CA118082,OMIM:603506.0001C0432252 259770 Osteoporosis with pseudoglioma;
NM_002335.4(LRP5):c.205G>T (p.Asp69Tyr)4041LRP5Likely pathogenicrs1057519574RCV000417043; NMONDO:MONDO:0009820,MedGen:C0432252,OMIM:259770, Orphanet:2788116811542868115428GT11:g.68115428G>TClinGen:CA16044353C0432252 259770 Osteoporosis with pseudoglioma;
NM_002335.4(LRP5):c.433C>T (p.Leu145Phe)4041LRP5Pathogenicrs80358305RCV000006672|RCV000033256; NMedGen:C4016838|MONDO:MONDO:0009820,MedGen:C0432252,OMIM:259770, Orphanet:2788116811565668115656CT11:g.68115656C>TClinGen:CA118107,UniProtKB:O75197#VAR_063943,OMIM:603506.0025C4016838 Exudative vitreoretinopathy 4, autosomal dominant;
NM_002335.4(LRP5):c.731C>T (p.Thr244Met)4041LRP5Pathogenicrs397514665RCV000033259; NMONDO:MONDO:0009820,MedGen:C0432252,OMIM:259770, Orphanet:2788116813125968131259CT11:g.68131259C>TClinGen:CA130818,UniProtKB:O75197#VAR_063946,OMIM:603506.0031C0432252 259770 Osteoporosis with pseudoglioma;
NM_002335.4(LRP5):c.1142A>G (p.Asp381Gly)4041LRP5Likely pathogenicrs886040977RCV000258126; NMONDO:MONDO:0009820,MedGen:C0432252,OMIM:259770, Orphanet:2788116815391068153910AG11:g.68153910A>GClinGen:CA10602481
NM_002335.4(LRP5):c.1145C>T (p.Pro382Leu)4041LRP5Pathogenicrs397514664RCV000033258; NMONDO:MONDO:0009820,MedGen:C0432252,OMIM:259770, Orphanet:2788116815391368153913CT11:g.68153913C>TClinGen:CA130816,OMIM:603506.0030C0432252 259770 Osteoporosis with pseudoglioma;
NM_002335.4(LRP5):c.1282C>T (p.Arg428Ter)4041LRP5Pathogenicrs121908661RCV000006647; NMONDO:MONDO:0009820,MedGen:C0432252,OMIM:259770, Orphanet:2788116815405068154050CT11:g.68154050C>TOMIM:603506.0002,ClinGen:CA118084C0432252 259770 Osteoporosis with pseudoglioma;
NM_002335.4(LRP5):c.1348C>T (p.Arg450Cys)4041LRP5Conflicting interpretations of pathogenicityrs765695793RCV001202577|RCV001260286; NMedGen:CN517202|MONDO:MONDO:0009820,MedGen:C0432252,OMIM:259770, Orphanet:2788116815411668154116CT11:g.68154116C>T-
NM_002335.4(LRP5):c.1453G>T (p.Glu485Ter)4041LRP5Pathogenicrs121908666RCV000006655; NMONDO:MONDO:0009820,MedGen:C0432252,OMIM:259770, Orphanet:2788116815738968157389GT11:g.68157389G>TClinGen:CA118091,OMIM:603506.0010C0432252 259770 Osteoporosis with pseudoglioma;
NM_002335.4(LRP5):c.1468del (p.Asp490fs)4041LRP5Pathogenicrs1554967141RCV000006648; NMONDO:MONDO:0009820,MedGen:C0432252,OMIM:259770, Orphanet:2788116815740368157403TGT11:g.68157403_68157403delClinGen:CA658683690,OMIM:603506.0003C0432252 259770 Osteoporosis with pseudoglioma;
NM_002335.4(LRP5):c.1481G>A (p.Arg494Gln)4041LRP5Likely pathogenicrs121908664RCV000006652|RCV000414333; NMONDO:MONDO:0009820,MedGen:C0432252,OMIM:259770, Orphanet:2788|MedGen:CN517202116815741768157417GA11:g.68157417G>AClinGen:CA118089,UniProtKB:O75197#VAR_021814,OMIM:603506.0007
NM_002335.4(LRP5):c.1584+1G>A4041LRP5Pathogenicrs1554967176RCV000033261; NMONDO:MONDO:0009820,MedGen:C0432252,OMIM:259770, Orphanet:2788116815752168157521GA11:g.68157521G>AClinGen:CA381613557,OMIM:603506.0033C0432252 259770 Osteoporosis with pseudoglioma;
NM_002335.4(LRP5):c.1655C>T (p.Thr552Met)4041LRP5Pathogenicrs397514663RCV000033257; NMONDO:MONDO:0009820,MedGen:C0432252,OMIM:259770, Orphanet:2788116817102168171021CT11:g.68171021C>TClinGen:CA130814,OMIM:603506.0029C0432252 259770 Osteoporosis with pseudoglioma;
NM_002335.4(LRP5):c.1708C>T (p.Arg570Trp)4041LRP5Pathogenicrs121908665RCV000006653; NMONDO:MONDO:0009820,MedGen:C0432252,OMIM:259770, Orphanet:2788116817107468171074CT11:g.68171074C>TClinGen:CA118090,UniProtKB:O75197#VAR_021815,OMIM:603506.0008C0432252 259770 Osteoporosis with pseudoglioma;
NM_002335.4(LRP5):c.1999G>A (p.Val667Met)4041LRP5Benign/Likely benignrs4988321RCV000006654|RCV000086953|RCV000250939; NMONDO:MONDO:0009820,MedGen:C0432252,OMIM:259770, Orphanet:2788|MedGen:CN517202|MedGen:CN169374116817418968174189GA11:g.68174189G>AClinGen:CA213422,UniProtKB:O75197#VAR_021816,OMIM:603506.0009CN517202 not provided;
NM_002335.4(LRP5):c.2151dup (p.Asp718Ter)4041LRP5Pathogenicrs121908662RCV000006649; NMONDO:MONDO:0009820,MedGen:C0432252,OMIM:259770, Orphanet:2788116817743968177440CCT11:g.68177439_68177440insTClinGen:CA118086,OMIM:603506.0004C0432252 259770 Osteoporosis with pseudoglioma;
NM_002335.4(LRP5):c.2202G>A (p.Trp734Ter)4041LRP5Pathogenicrs121908667RCV000006656; NMONDO:MONDO:0009820,MedGen:C0432252,OMIM:259770, Orphanet:2788116817749268177492GA11:g.68177492G>AOMIM:603506.0011,ClinGen:CA118093C0432252 259770 Osteoporosis with pseudoglioma;
NM_002335.4(LRP5):c.2305del (p.Asp769fs)4041LRP5Pathogenicrs1554971145RCV000006657; NMONDO:MONDO:0009820,MedGen:C0432252,OMIM:259770, Orphanet:2788116817759468177594TGT11:g.68177594_68177594delClinGen:CA658683691,OMIM:603506.0012C0432252 259770 Osteoporosis with pseudoglioma;
NM_002335.4(LRP5):c.2557C>T (p.Gln853Ter)4041LRP5Pathogenicrs121908663RCV000006650; NMONDO:MONDO:0009820,MedGen:C0432252,OMIM:259770, Orphanet:2788116818121068181210CT11:g.68181210C>TClinGen:CA118087,OMIM:603506.0005C0432252 259770 Osteoporosis with pseudoglioma;
NM_002335.4(LRP5):c.3005G>A (p.Arg1002Gln)4041LRP5Conflicting interpretations of pathogenicityrs779935967RCV001243546|RCV001260287; NMedGen:CN517202|MONDO:MONDO:0009820,MedGen:C0432252,OMIM:259770, Orphanet:2788116818397368183973GA11:g.68183973G>A-
NM_002335.4(LRP5):c.3804del (p.Glu1270fs)4041LRP5Pathogenicrs80358319RCV000006651; NMONDO:MONDO:0009820,MedGen:C0432252,OMIM:259770, Orphanet:2788116820111068201110CAC11:g.68201110_68201110delClinGen:CA224250766,OMIM:603506.0006C0432252 259770 Osteoporosis with pseudoglioma;
NM_002335.4(LRP5):c.3857G>A (p.Cys1286Tyr)4041LRP5Likely pathogenicrs1326459816RCV000988588; NMONDO:MONDO:0009820,MedGen:C0432252,OMIM:259770, Orphanet:2788116820116368201163GA11:g.68201163G>A-
NM_002335.4(LRP5):c.3989C>T (p.Ala1330Val)4041LRP5Benignrs3736228RCV000242123|RCV000712234|RCV000988589; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0009820,MedGen:C0432252,OMIM:259770, Orphanet:2788116820129568201295CT11:g.68201295C>TClinGen:CA6150180,UniProtKB:O75197#VAR_021817CN169374 not specified;
NM_002335.4(LRP5):c.4489-2A>G4041LRP5Likely pathogenicrs1057519575RCV000417056; NMONDO:MONDO:0009820,MedGen:C0432252,OMIM:259770, Orphanet:2788116821390268213902AG11:g.68213902A>GClinGen:CA16044354
NM_002335.4(LRP5):c.4600C>T (p.Arg1534Ter)4041LRP5Pathogenicrs149645175RCV000033260; NMONDO:MONDO:0009820,MedGen:C0432252,OMIM:259770, Orphanet:2788116821629068216290CT11:g.68216290C>TClinGen:CA130819,OMIM:603506.0032C0432252 259770 Osteoporosis with pseudoglioma;
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