MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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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 ..Osteogenesis Imperfecta, Type IX (C564921)
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:

9274

Name:

Osteogenesis Imperfecta, Type IX

Definition:

Alternative IDs:

OMIM:259440

ParentIDs:

MESH:D010013

TreeNumbers:

C05.116.099.708.685/C564921 |C16.320.737/C564921 |C17.300.200.540/C564921

Synonyms:

OI9 |OI, Type IX |Osteogenesis Imperfecta, Sillence Type II-III, Without Abnormality of Type I Collagen

Slim Mappings:

Connective tissue disease|Genetic disease (inborn)|Musculoskeletal disease

Reference:

MedGen: C564921
MeSH: C564921
OMIM: 259440;
MSeqDR :
Genes: PPIB;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0000592	Blue sclerae
3	HP:0003023	Bowing of limbs due to multiple fractures
4	HP:0000703	Dentinogenesis imperfecta
5	HP:0008873	Disproportionate short-limb short stature
6	HP:0002808	Kyphosis
7	HP:0005855	Multiple prenatal fractures
8	HP:0000768	Pectus carinatum
9	HP:0000767	Pectus excavatum
10	HP:0002757	Recurrent fractures
11	HP:0002650	Scoliosis
12	HP:0002645	Wormian bones

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_000942.5(PPIB):c.*190T>G	5479	PPIB	Uncertain significance	113626158	RCV000360020;	N	MONDO:MONDO:0009805,MedGen:C1850169,OMIM:259440	15	64448032	64448032	NC_000015.9:g.64448032A>C	ClinGen:CA10636325	CN239451 Osteogenesis Imperfecta, Recessive;
NM_000942.5(PPIB):c.*154C>T	5479	PPIB	Uncertain significance	574102477	RCV001116833;	N	MONDO:MONDO:0009805,MedGen:C1850169,OMIM:259440	15	64448068	64448068	15:g.64448068G>A	-
NM_000942.5(PPIB):c.*80C>T	5479	PPIB	Uncertain significance	540855873	RCV001116834;	N	MONDO:MONDO:0009805,MedGen:C1850169,OMIM:259440	15	64448142	64448142	15:g.64448142G>A	-
NM_000942.5(PPIB):c.*65G>C	5479	PPIB	Uncertain significance	2230223	RCV001116835;	N	MONDO:MONDO:0009805,MedGen:C1850169,OMIM:259440	15	64448157	64448157	15:g.64448157C>G	-
NM_000942.5(PPIB):c.*21T>A	5479	PPIB	Benign	2307248	RCV001118288;	N	MONDO:MONDO:0009805,MedGen:C1850169,OMIM:259440	15	64448201	64448201	15:g.64448201A>T	-
NM_000942.5(PPIB):c.*14C>A	5479	PPIB	Uncertain significance	201974607	RCV001118289;	N	MONDO:MONDO:0009805,MedGen:C1850169,OMIM:259440	15	64448208	64448208	15:g.64448208G>T	-
NM_000942.5(PPIB):c.*12A>G	5479	PPIB	Uncertain significance	763342854	RCV000267538;	N	MONDO:MONDO:0009805,MedGen:C1850169,OMIM:259440	15	64448210	64448210	15:g.64448210T>C	ClinGen:CA7608419	CN239451 Osteogenesis Imperfecta, Recessive;
NM_000942.5(PPIB):c.597C>T (p.Ile199=)	5479	PPIB	Conflicting interpretations of pathogenicity	369889089	RCV000296866\|RCV000930750;	N	MONDO:MONDO:0009805,MedGen:C1850169,OMIM:259440\|MedGen:C3661900	15	64448276	64448276	NC_000015.9:g.64448276G>A	ClinGen:CA7608430	CN169374 not specified;
NM_000942.5(PPIB):c.563_566del (p.Asp188fs)	5479	PPIB	Pathogenic	398122834	RCV000034321;	N	MONDO:MONDO:0009805,MedGen:C1850169,OMIM:259440	15	64448307	64448310	15:g.64448307_64448310del	ClinGen:CA210835,OMIM:123841.0004	C1850169 259440 Osteogenesis imperfecta type 9;
NM_000942.5(PPIB):c.556_559del (p.Lys186fs)	5479	PPIB	Pathogenic	137853869	RCV000018433\|RCV000024535\|RCV002307366;	N	MONDO:MONDO:0009805,MedGen:C1850169,OMIM:259440\|MedGen:CN517202\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666	15	64448314	64448317	15:g.64448314_64448317del	ClinGen:CA212991,OMIM:123841.0001	CN517202 not provided;
NM_000942.5(PPIB):c.529-21G>A	5479	PPIB	Benign	2253557	RCV000834263\|RCV001789386;	N	MedGen:C3661900\|MONDO:MONDO:0009805,MedGen:C1850169,OMIM:259440	15	64448365	64448365	15:g.64448365C>T	-
NM_000942.5(PPIB):c.528+14G>A	5479	PPIB	Conflicting interpretations of pathogenicity	776724565	RCV001118290\|RCV002558170;	N	MONDO:MONDO:0009805,MedGen:C1850169,OMIM:259440\|MedGen:CN517202	15	64448910	64448910	15:g.64448910C>T	-
NM_000942.5(PPIB):c.451C>T (p.Gln151Ter)	5479	PPIB	Pathogenic	121434559	RCV000018434\|RCV000024534;	N	MONDO:MONDO:0009805,MedGen:C1850169,OMIM:259440\|MedGen:C3661900	15	64449001	64449001	15:g.64449001G>A	ClinGen:CA210846,OMIM:123841.0002	CN517202 not provided;
NM_000942.5(PPIB):c.444C>T (p.Asn148=)	5479	PPIB	Uncertain significance	549542551	RCV001118291;	N	MONDO:MONDO:0009805,MedGen:C1850169,OMIM:259440	15	64449008	64449008	15:g.64449008G>A	-
NM_000942.5(PPIB):c.434_435del (p.Lys145fs)	5479	PPIB	Pathogenic/Likely pathogenic	1211592084	RCV001849895\|RCV003120724;	N	MONDO:MONDO:0009805,MedGen:C1850169,OMIM:259440\|MedGen:C3661900	15	64449017	64449018	64449016	-
NM_000942.5(PPIB):c.426C>T (p.Asn142=)	5479	PPIB	Uncertain significance	766129397	RCV000354164;	N	MONDO:MONDO:0009805,MedGen:C1850169,OMIM:259440	15	64449026	64449026	NC_000015.9:g.64449026G>A	ClinGen:CA7608484	CN239451 Osteogenesis Imperfecta, Recessive;
NM_000942.5(PPIB):c.364C>T (p.Arg122Cys)	5479	PPIB	Uncertain significance	886051322	RCV000261682\|RCV002522804;	N	MONDO:MONDO:0009805,MedGen:C1850169,OMIM:259440\|MedGen:CN517202	15	64449088	64449088	NC_000015.9:g.64449088G>A	ClinGen:CA10647209	CN239451 Osteogenesis Imperfecta, Recessive;
NM_000942.5(PPIB):c.359G>A (p.Gly120Asp)	5479	PPIB	Uncertain significance	568378169	RCV001119816\|RCV001856571\|RCV003353166;	N	MONDO:MONDO:0009805,MedGen:C1850169,OMIM:259440\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	15	64449093	64449093	15:g.64449093C>T	-
NM_000942.5(PPIB):c.344-61C>T	5479	PPIB	Benign/Likely benign	2241995	RCV001001652\|RCV001585907;	N	MONDO:MONDO:0009805,MedGen:C1850169,OMIM:259440\|MedGen:C3661900	15	64449169	64449169	15:g.64449169G>A	-
NM_000942.5(PPIB):c.324C>T (p.Thr108=)	5479	PPIB	Benign	2307247	RCV000024541\|RCV000427559\|RCV001001603\|RCV002276572;	N	MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0009805,MedGen:C1850169,OMIM:259440\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666	15	64452322	64452322	15:g.64452322G>A	ClinGen:CA215399	CN517202 not provided;
NM_000942.5(PPIB):c.313G>A (p.Gly105Arg)	5479	PPIB	Pathogenic/Likely pathogenic	137853866	RCV000024538\|RCV000202406\|RCV003114203;	N	MedGen:C3661900\|MONDO:MONDO:0009805,MedGen:C1850169,OMIM:259440\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666	15	64452333	64452333	15:g.64452333C>T	ClinGen:CA210932,OMIM:123841.0006	CN517202 not provided;
NM_000942.5(PPIB):c.300C>A (p.Phe100Leu)	5479	PPIB	Uncertain significance	1420928651	RCV001119817\|RCV002276627;	N	MONDO:MONDO:0009805,MedGen:C1850169,OMIM:259440\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666	15	64452346	64452346	15:g.64452346G>T	-
NM_000942.5(PPIB):c.279C>T (p.Phe93=)	5479	PPIB	Uncertain significance	886051323	RCV000319530;	N	MONDO:MONDO:0009805,MedGen:C1850169,OMIM:259440	15	64452367	64452367	NC_000015.9:g.64452367G>A	ClinGen:CA10636329	CN239451 Osteogenesis Imperfecta, Recessive;
NM_000942.5(PPIB):c.250-1G>A	5479	PPIB	Uncertain significance	1219861826	RCV000779171;	N	MONDO:MONDO:0009805,MedGen:C1850169,OMIM:259440	15	64452397	64452397	NC_000015.9:g.64452397C>T	-
NM_000942.5(PPIB):c.249+19G>T	5479	PPIB	Benign/Likely benign	150590633	RCV000423946\|RCV002062328\|RCV003114546;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0009805,MedGen:C1850169,OMIM:259440	15	64454221	64454221	15:g.64454221C>A	ClinGen:CA7608556	CN169374 not specified;
NM_000942.5(PPIB):c.249+12G>A	5479	PPIB	Conflicting interpretations of pathogenicity	202059751	RCV001119818\|RCV002069945;	N	MONDO:MONDO:0009805,MedGen:C1850169,OMIM:259440\|MedGen:C3661900	15	64454228	64454228	15:g.64454228C>T	-
NM_000942.5(PPIB):c.135+14C>T	5479	PPIB	Likely benign	779741523	RCV002227357\|RCV003093896;	N	MONDO:MONDO:0009805,MedGen:C1850169,OMIM:259440\|MedGen:C3661900	15	64455037	64455037	64455037	-
NM_000942.5(PPIB):c.120del (p.Val42fs)	5479	PPIB	Pathogenic	137853865	RCV000024537\|RCV000202411;	N	MedGen:CN517202\|MONDO:MONDO:0009805,MedGen:C1850169,OMIM:259440	15	64455066	64455066	15:g.64455066_64455066del	ClinGen:CA210935,OMIM:123841.0005	CN517202 not provided;
NM_000942.5(PPIB):c.85G>A (p.Gly29Arg)	5479	PPIB	Benign/Likely benign	200307684	RCV000828158\|RCV001119819;	N	MedGen:C3661900\|MONDO:MONDO:0009805,MedGen:C1850169,OMIM:259440	15	64455101	64455101	15:g.64455101C>T	-
NM_000942.5(PPIB):c.63C>A (p.Ser21=)	5479	PPIB	Benign	4904	RCV000024543\|RCV000367242\|RCV000438388;	N	MedGen:C3661900\|MONDO:MONDO:0009805,MedGen:C1850169,OMIM:259440\|MedGen:CN169374	15	64455123	64455123	15:g.64455123G>T	ClinGen:CA215405	CN517202 not provided;
NM_000942.5(PPIB):c.58G>T (p.Gly20Trp)	5479	PPIB	Uncertain significance	886051324	RCV000274835;	N	MONDO:MONDO:0009805,MedGen:C1850169,OMIM:259440	15	64455128	64455128	NC_000015.9:g.64455128C>A	ClinGen:CA10636331	CN239451 Osteogenesis Imperfecta, Recessive;
NM_000942.5(PPIB):c.57G>T (p.Ala19=)	5479	PPIB	Uncertain significance	2081570846	RCV001121802;	N	MONDO:MONDO:0009805,MedGen:C1850169,OMIM:259440	15	64455129	64455129	15:g.64455129C>A	-
NM_000942.5(PPIB):c.26T>G (p.Met9Arg)	5479	PPIB	Pathogenic	137853864	RCV000018435\|RCV000024544;	N	MONDO:MONDO:0009805,MedGen:C1850169,OMIM:259440\|MedGen:CN517202	15	64455160	64455160	15:g.64455160A>C	ClinGen:CA210830,UniProtKB:P23284#VAR_063436,OMIM:123841.0003	CN517202 not provided;
NM_000942.5(PPIB):c.-9C>G	5479	PPIB	Uncertain significance	367616150	RCV001121803\|RCV002276628;	N	MONDO:MONDO:0009805,MedGen:C1850169,OMIM:259440\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666	15	64455194	64455194	15:g.64455194G>C	-
NM_000942.5(PPIB):c.-12C>G	5479	PPIB	Uncertain significance	572092561	RCV001121804;	N	MONDO:MONDO:0009805,MedGen:C1850169,OMIM:259440	15	64455197	64455197	15:g.64455197G>C	-
NM_000942.4(PPIB):c.-56C>A	5479	PPIB	Uncertain significance	886051325	RCV000332218;	N	MONDO:MONDO:0009805,MedGen:C1850169,OMIM:259440	15	64455241	64455241	NC_000015.9:g.64455241G>T	ClinGen:CA10642329	CN239451 Osteogenesis Imperfecta, Recessive;
NM_000942.4(PPIB):c.-57G>A	5479	PPIB	Uncertain significance	886051326	RCV000389337;	N	MONDO:MONDO:0009805,MedGen:C1850169,OMIM:259440	15	64455242	64455242	NC_000015.9:g.64455242C>T	ClinGen:CA10646404	CN239451 Osteogenesis Imperfecta, Recessive;
NM_000942.4(PPIB):c.-91A>C	5479	PPIB	Uncertain significance	544474028	RCV000287987;	N	MONDO:MONDO:0009805,MedGen:C1850169,OMIM:259440	15	64455276	64455276	NC_000015.9:g.64455276T>G	ClinGen:CA10647211	CN239451 Osteogenesis Imperfecta, Recessive;
NM_000942.4(PPIB):c.-92C>T	5479	PPIB	Uncertain significance	376643972	RCV001121805;	N	MONDO:MONDO:0009805,MedGen:C1850169,OMIM:259440	15	64455277	64455277	15:g.64455277G>A	-
NM_000942.4(PPIB):c.-92C>G	5479	PPIB	Uncertain significance	376643972	RCV001121806;	N	MONDO:MONDO:0009805,MedGen:C1850169,OMIM:259440	15	64455277	64455277	15:g.64455277G>C	-
NM_000942.4(PPIB):c.-92C>A	5479	PPIB	Uncertain significance	376643972	RCV001115235;	N	MONDO:MONDO:0009805,MedGen:C1850169,OMIM:259440	15	64455277	64455277	15:g.64455277G>T	-
NM_000942.4(PPIB):c.-94C>G	5479	PPIB	Uncertain significance	369957382	RCV000326511;	N	MONDO:MONDO:0009805,MedGen:C1850169,OMIM:259440	15	64455279	64455279	15:g.64455279G>C	ClinGen:CA10647218	CN239451 Osteogenesis Imperfecta, Recessive;
NM_000942.4(PPIB):c.-98C>A	5479	PPIB	Uncertain significance	527689470	RCV000383462;	N	MONDO:MONDO:0009805,MedGen:C1850169,OMIM:259440	15	64455283	64455283	15:g.64455283G>T	ClinGen:CA10647221	CN239451 Osteogenesis Imperfecta, Recessive;
NM_000942.4(PPIB):c.-118A>G	5479	PPIB	Uncertain significance	886051327	RCV000291583;	N	MONDO:MONDO:0009805,MedGen:C1850169,OMIM:259440	15	64455303	64455303	15:g.64455303T>C	ClinGen:CA10646410	CN239451 Osteogenesis Imperfecta, Recessive;
NM_000942.4(PPIB):c.-136C>T	5479	PPIB	Uncertain significance	886051328	RCV000339546;	N	MONDO:MONDO:0009805,MedGen:C1850169,OMIM:259440	15	64455321	64455321	NC_000015.9:g.64455321G>A	ClinGen:CA10646419	CN239451 Osteogenesis Imperfecta, Recessive;
NM_000942.4(PPIB):c.-139C>T	5479	PPIB	Uncertain significance	886051329	RCV000404289;	N	MONDO:MONDO:0009805,MedGen:C1850169,OMIM:259440	15	64455324	64455324	NC_000015.9:g.64455324G>A	ClinGen:CA10636332	CN239451 Osteogenesis Imperfecta, Recessive;
NM_000942.5(PPIB):c.615C>T (p.Ile205=)	-1	PPIB;SNX22	Likely benign	1596027267	RCV001002183;	N	MONDO:MONDO:0009805,MedGen:C1850169,OMIM:259440	15	64448258	64448258	15:g.64448258G>A	-

MSeqDR Portal

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