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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Osteogenesis Imperfecta (D010013)
..Starting node ..Osteoporosis-pseudoglioma syndrome (C536063)
Child Nodes:
Sister Nodes:
..Al Gazali Sabrinathan Nair syndrome (C535617)
..Astley-Kendall syndrome (C535392)
..Bruck syndrome 1 (C537406)
..Bruck syndrome 2 (C537407)
..Cole Carpenter syndrome (C535963)
..GNATHODIAPHYSEAL DYSPLASIA (OMIM:166260)
..Grant syndrome (C537293)
..Lowry Maclean syndrome (C537037)
..OI-EDS Combined Syndrome (C565178)
..Osteogenesis imperfecta congenita, microcephaly, and cataracts (C537558)
..Osteogenesis Imperfecta Type VII (C565200)
..Osteogenesis Imperfecta with Opalescent Teeth, Blue Sclerae and Wormian Bones, but Without Fractures (C563487)
..Osteogenesis imperfecta, Levin type (C536039)
..Osteogenesis imperfecta, type 1A (C536041)
..Osteogenesis imperfecta, type 2A (C536042)
..Osteogenesis imperfecta, type 2B (C536043)
..Osteogenesis imperfecta, type 3 (C536044)
..Osteogenesis imperfecta, type 4 (C536045)
..Osteogenesis imperfecta, type 5 (C536046)
..Osteogenesis imperfecta, type 6 (C536047)
..Osteogenesis imperfecta, type 7 (C536048)
..Osteogenesis Imperfecta, Type IX (C564921)
..Osteogenesis Imperfecta, Type V (C567042)
..Osteogenesis imperfecta, type VIII (C536049)
..OSTEOGENESIS IMPERFECTA, TYPE X (OMIM:613848)
..OSTEOGENESIS IMPERFECTA, TYPE XI (OMIM:610968)
..OSTEOGENESIS IMPERFECTA, TYPE XII (OMIM:613849)
..OSTEOGENESIS IMPERFECTA, TYPE XIII (OMIM:614856)
..OSTEOGENESIS IMPERFECTA, TYPE XIV (OMIM:615066)
..OSTEOGENESIS IMPERFECTA, TYPE XV (OMIM:615220)
..OSTEOGENESIS IMPERFECTA, TYPE XVII (OMIM:616507)
..Osteopenic Nonfracture Syndrome (C567172)
..Osteoporosis-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 :
Genes: LRP5;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0008037	Absent anterior chamber of the eye
3	HP:0001552	Barrel-shaped chest
4	HP:0000618	Blindness
5	HP:0000518	Cataract NAMDC: Cataracts
6	HP:0001290	Generalized hypotonia
7	HP:0009733	Glioma
8	HP:0002659	Increased susceptibility to fractures
9	HP:0001256	Intellectual disability, mild
10	HP:0001089	Iris atrophy
11	HP:0001382	Joint hypermobility
12	HP:0002751	Kyphoscoliosis
13	HP:0003016	Metaphyseal widening
14	HP:0000252	Microcephaly
15	HP:0000568	Microphthalmia
16	HP:0001252	Muscular hypotonia NAMDC: Hypotonia
17	HP:0000939	Osteoporosis
18	HP:0002756	Pathologic fracture
19	HP:0000667	Phthisis bulbi
20	HP:0000926	Platyspondyly
21	HP:0004322	Short stature NAMDC: Short stature (patient��s height is below the 3rd percentile)
22	HP:0001629	Ventricular septal defect
23	HP:0007773	Vitreoretinopathy

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_002335.4(LRP5):c.29G>A (p.Trp10Ter)	4041	LRP5	Pathogenic	rs121908660	RCV000006646;	N	MONDO:MONDO:0009820,MedGen:C0432252,OMIM:259770, Orphanet:2788	11	68080211	68080211	11:g.68080211G>A	ClinGen:CA118082,OMIM:603506.0001	C0432252 259770 Osteoporosis with pseudoglioma;
NM_002335.4(LRP5):c.205G>T (p.Asp69Tyr)	4041	LRP5	Likely pathogenic	rs1057519574	RCV000417043;	N	MONDO:MONDO:0009820,MedGen:C0432252,OMIM:259770, Orphanet:2788	11	68115428	68115428	11:g.68115428G>T	ClinGen:CA16044353	C0432252 259770 Osteoporosis with pseudoglioma;
NM_002335.4(LRP5):c.433C>T (p.Leu145Phe)	4041	LRP5	Pathogenic	rs80358305	RCV000006672\|RCV000033256;	N	MedGen:C4016838\|MONDO:MONDO:0009820,MedGen:C0432252,OMIM:259770, Orphanet:2788	11	68115656	68115656	11:g.68115656C>T	OMIM:603506.0025,ClinGen:CA118107,UniProtKB:O75197#VAR_063943	C4016838 Exudative vitreoretinopathy 4, autosomal dominant;
NM_002335.4(LRP5):c.731C>T (p.Thr244Met)	4041	LRP5	Pathogenic	rs397514665	RCV000033259;	N	MONDO:MONDO:0009820,MedGen:C0432252,OMIM:259770, Orphanet:2788	11	68131259	68131259	11:g.68131259C>T	ClinGen:CA130818,UniProtKB:O75197#VAR_063946,OMIM:603506.0031	C0432252 259770 Osteoporosis with pseudoglioma;
NM_002335.4(LRP5):c.787T>C (p.Cys263Arg)	4041	LRP5	Uncertain significance	-1	RCV002244113;	N	MONDO:MONDO:0009820,MedGen:C0432252,OMIM:259770, Orphanet:2788	11	68131315	68131315	68131315	-
NM_002335.4(LRP5):c.1058G>A (p.Arg353Gln)	4041	LRP5	Likely pathogenic	-1	RCV001728176;	N	MONDO:MONDO:0009820,MedGen:C0432252,OMIM:259770, Orphanet:2788	11	68153826	68153826	68153826	-
NM_002335.4(LRP5):c.1142A>G (p.Asp381Gly)	4041	LRP5	Likely pathogenic	rs886040977	RCV000258126;	N	MONDO:MONDO:0009820,MedGen:C0432252,OMIM:259770, Orphanet:2788	11	68153910	68153910	NC_000011.9:g.68153910A>G	ClinGen:CA10602481	C0432252 259770 Osteoporosis with pseudoglioma;
NM_002335.4(LRP5):c.1145C>T (p.Pro382Leu)	4041	LRP5	Pathogenic	rs397514664	RCV000033258\|RCV001380061;	N	MONDO:MONDO:0009820,MedGen:C0432252,OMIM:259770, Orphanet:2788\|MedGen:CN517202	11	68153913	68153913	11:g.68153913C>T	ClinGen:CA130816,OMIM:603506.0030	C0432252 259770 Osteoporosis with pseudoglioma;
NM_002335.4(LRP5):c.1282C>T (p.Arg428Ter)	4041	LRP5	Pathogenic	rs121908661	RCV000006647\|RCV001781193\|RCV002496285;	N	MONDO:MONDO:0009820,MedGen:C0432252,OMIM:259770, Orphanet:2788\|MedGen:CN517202\|8 conditions	11	68154050	68154050	11:g.68154050C>T	ClinGen:CA118084,OMIM:603506.0002	C0432252 259770 Osteoporosis with pseudoglioma;
NM_002335.4(LRP5):c.1348C>T (p.Arg450Cys)	4041	LRP5	Conflicting interpretations of pathogenicity	rs765695793	RCV001202577\|RCV001260286;	N	MedGen:CN517202\|MONDO:MONDO:0009820,MedGen:C0432252,OMIM:259770, Orphanet:2788	11	68154116	68154116	11:g.68154116C>T	-
NM_002335.4(LRP5):c.1413-7T>A	4041	LRP5	Conflicting interpretations of pathogenicity	rs141889567	RCV000579350\|RCV001335928\|RCV001701094;	N	MedGen:CN517202\|MONDO:MONDO:0009820,MedGen:C0432252,OMIM:259770, Orphanet:2788\|MedGen:CN169374	11	68157342	68157342	NC_000011.9:g.68157342T>A	ClinGen:CA6149342
NM_002335.4(LRP5):c.1453G>T (p.Glu485Ter)	4041	LRP5	Pathogenic	rs121908666	RCV000006655;	N	MONDO:MONDO:0009820,MedGen:C0432252,OMIM:259770, Orphanet:2788	11	68157389	68157389	11:g.68157389G>T	ClinGen:CA118091,OMIM:603506.0010	C0432252 259770 Osteoporosis with pseudoglioma;
NM_002335.4(LRP5):c.1468del (p.Asp490fs)	4041	LRP5	Pathogenic	rs1554967141	RCV000006648;	N	MONDO:MONDO:0009820,MedGen:C0432252,OMIM:259770, Orphanet:2788	11	68157403	68157403	11:g.68157403_68157403del	ClinGen:CA658683690,OMIM:603506.0003	C0432252 259770 Osteoporosis with pseudoglioma;
NM_002335.4(LRP5):c.1480C>T (p.Arg494Trp)	4041	LRP5	Conflicting interpretations of pathogenicity	-1	RCV002244111\|RCV003093935;	N	MONDO:MONDO:0009820,MedGen:C0432252,OMIM:259770, Orphanet:2788\|MedGen:CN517202	11	68157416	68157416	68157416	-
NM_002335.4(LRP5):c.1481G>A (p.Arg494Gln)	4041	LRP5	Pathogenic/Likely pathogenic	rs121908664	RCV000006652\|RCV000414333\|RCV002247255\|RCV002482834;	N	MONDO:MONDO:0009820,MedGen:C0432252,OMIM:259770, Orphanet:2788\|MedGen:CN517202\|MONDO:MONDO:0007589,MedGen:C1851402,OMIM:133780, Orphanet:891, Orphanet:90050\|8 conditions	11	68157417	68157417	NC_000011.9:g.68157417G>A	ClinGen:CA118089,UniProtKB:O75197#VAR_021814,OMIM:603506.0007
NM_002335.4(LRP5):c.1512G>A (p.Trp504Ter)	4041	LRP5	Pathogenic	-1	RCV002052059;	N	MONDO:MONDO:0009820,MedGen:C0432252,OMIM:259770, Orphanet:2788	11	68157448	68157448	68157448	-
NM_002335.4(LRP5):c.1584+1G>A	4041	LRP5	Pathogenic	rs1554967176	RCV000033261;	N	MONDO:MONDO:0009820,MedGen:C0432252,OMIM:259770, Orphanet:2788	11	68157521	68157521	11:g.68157521G>A	OMIM:603506.0033,ClinGen:CA381613557	C0432252 259770 Osteoporosis with pseudoglioma;
NM_002335.4(LRP5):c.1655C>T (p.Thr552Met)	4041	LRP5	Pathogenic	rs397514663	RCV000033257;	N	MONDO:MONDO:0009820,MedGen:C0432252,OMIM:259770, Orphanet:2788	11	68171021	68171021	11:g.68171021C>T	ClinGen:CA130814,OMIM:603506.0029	C0432252 259770 Osteoporosis with pseudoglioma;
NM_002335.4(LRP5):c.1708C>T (p.Arg570Trp)	4041	LRP5	Conflicting interpretations of pathogenicity	rs121908665	RCV000006653\|RCV001851703\|RCV002276534;	N	MONDO:MONDO:0009820,MedGen:C0432252,OMIM:259770, Orphanet:2788\|MedGen:CN517202\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666	11	68171074	68171074	11:g.68171074C>T	OMIM:603506.0008,ClinGen:CA118090,UniProtKB:O75197#VAR_021815	C0432252 259770 Osteoporosis with pseudoglioma;
NM_002335.4(LRP5):c.1999G>A (p.Val667Met)	4041	LRP5	Benign/Likely benign	rs4988321	RCV000006654\|RCV000086953\|RCV000250939\|RCV002276536\|RCV002276535\|RCV002496286;	N	MONDO:MONDO:0009820,MedGen:C0432252,OMIM:259770, Orphanet:2788\|MedGen:CN517202\|MedGen:CN169374\|Human Phenotype Ontology:HP:0002796,Human Phenotype Ontology:HP:0004350,Human Phenotype Ontology:HP:0005711,Human Phenotype Ontology:HP:0005741,Human Phenotype	11	68174189	68174189	11:g.68174189G>A	ClinGen:CA213422,UniProtKB:O75197#VAR_021816,OMIM:603506.0009	CN517202 not provided;
NM_002335.4(LRP5):c.2151dup (p.Asp718Ter)	4041	LRP5	Pathogenic	rs121908662	RCV000006649;	N	MONDO:MONDO:0009820,MedGen:C0432252,OMIM:259770, Orphanet:2788	11	68177439	68177440	11:g.68177439_68177440insT	ClinGen:CA118086,OMIM:603506.0004	C0432252 259770 Osteoporosis with pseudoglioma;
NM_002335.4(LRP5):c.2202G>A (p.Trp734Ter)	4041	LRP5	Pathogenic	rs121908667	RCV000006656;	N	MONDO:MONDO:0009820,MedGen:C0432252,OMIM:259770, Orphanet:2788	11	68177492	68177492	11:g.68177492G>A	ClinGen:CA118093,OMIM:603506.0011	C0432252 259770 Osteoporosis with pseudoglioma;
NM_002335.4(LRP5):c.2305del (p.Asp769fs)	4041	LRP5	Pathogenic	rs1554971145	RCV000006657;	N	MONDO:MONDO:0009820,MedGen:C0432252,OMIM:259770, Orphanet:2788	11	68177594	68177594	11:g.68177594_68177594del	OMIM:603506.0012,ClinGen:CA658683691	C0432252 259770 Osteoporosis with pseudoglioma;
NM_002335.4(LRP5):c.2557C>T (p.Gln853Ter)	4041	LRP5	Pathogenic	rs121908663	RCV000006650;	N	MONDO:MONDO:0009820,MedGen:C0432252,OMIM:259770, Orphanet:2788	11	68181210	68181210	11:g.68181210C>T	ClinGen:CA118087,OMIM:603506.0005	C0432252 259770 Osteoporosis with pseudoglioma;
NM_002335.4(LRP5):c.3005G>A (p.Arg1002Gln)	4041	LRP5	Conflicting interpretations of pathogenicity	rs779935967	RCV001260287\|RCV001243546;	N	MONDO:MONDO:0009820,MedGen:C0432252,OMIM:259770, Orphanet:2788\|MedGen:CN517202	11	68183973	68183973	11:g.68183973G>A	-
NM_002335.4(LRP5):c.3804del (p.Glu1270fs)	4041	LRP5	Pathogenic	rs80358319	RCV000006651;	N	MONDO:MONDO:0009820,MedGen:C0432252,OMIM:259770, Orphanet:2788	11	68201110	68201110	11:g.68201110_68201110del	OMIM:603506.0006,ClinGen:CA224250766	C0432252 259770 Osteoporosis with pseudoglioma;
NM_002335.4(LRP5):c.3857G>A (p.Cys1286Tyr)	4041	LRP5	Conflicting interpretations of pathogenicity	rs1326459816	RCV000988588\|RCV002549716;	N	MONDO:MONDO:0009820,MedGen:C0432252,OMIM:259770, Orphanet:2788\|MedGen:CN517202	11	68201163	68201163	11:g.68201163G>A	-
NM_002335.4(LRP5):c.3989C>T (p.Ala1330Val)	4041	LRP5	Benign	rs3736228	RCV000242123\|RCV000712234\|RCV000988589\|RCV002278174\|RCV002278173;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0009820,MedGen:C0432252,OMIM:259770, Orphanet:2788\|Human Phenotype Ontology:HP:0002796,Human Phenotype Ontology:HP:0004350,Human Phenotype Ontology:HP:0005711,Human Phenotype Ontology:HP:0005741,Human Phenotype	11	68201295	68201295	11:g.68201295C>T	ClinGen:CA6150180,UniProtKB:O75197#VAR_021817	CN169374 not specified;
NM_002335.4(LRP5):c.4001-15G>A	4041	LRP5	Uncertain significance	rs2098675288	RCV001335930;	N	MONDO:MONDO:0009820,MedGen:C0432252,OMIM:259770, Orphanet:2788	11	68204342	68204342	68204342	-
NM_002335.4(LRP5):c.4489-2A>G	4041	LRP5	Likely pathogenic	rs1057519575	RCV000417056;	N	MONDO:MONDO:0009820,MedGen:C0432252,OMIM:259770, Orphanet:2788	11	68213902	68213902	NC_000011.9:g.68213902A>G	ClinGen:CA16044354	C0432252 259770 Osteoporosis with pseudoglioma;
NM_002335.4(LRP5):c.4583A>C (p.Tyr1528Ser)	4041	LRP5	Uncertain significance	rs1182722973	RCV001319184\|RCV001535737;	N	MedGen:CN517202\|MONDO:MONDO:0008265,MedGen:C0887850,OMIM:174050, Orphanet:2924; MONDO:MONDO:0009820,MedGen:C0432252,OMIM:259770, Orphanet:2788; MONDO:MONDO:0011877,MedGen:C1843330,OMIM:607634, Orphanet:2783; MONDO:MONDO:0011151,MedGen:C1866176,OMIM:601813,Orp	11	68213998	68213998	68213998	-
NM_002335.4(LRP5):c.4600C>T (p.Arg1534Ter)	4041	LRP5	Pathogenic	rs149645175	RCV000033260;	N	MONDO:MONDO:0009820,MedGen:C0432252,OMIM:259770, Orphanet:2788	11	68216290	68216290	11:g.68216290C>T	ClinGen:CA130819,OMIM:603506.0032	C0432252 259770 Osteoporosis with pseudoglioma;

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