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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

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Osteogenesis Imperfecta (D010013)
..Starting node ..Osteogenesis imperfecta, type 2A (C536042)
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 VI (C567041)
..Osteogenesis imperfecta, type VIII (C536049)
..Osteopenic Nonfracture Syndrome (C567172)
..Osteoporosis-pseudoglioma syndrome (C536063)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

8394

Name:

Osteogenesis imperfecta, type 2A

Definition:

Alternative IDs:

OMIM:166210

ParentIDs:

MESH:D010013

TreeNumbers:

C05.116.099.708.685/C536042 |C16.320.737/C536042 |C17.300.200.540/C536042

Synonyms:

Slim Mappings:

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

Reference:

MedGen: C536042
MeSH: C536042
OMIM: 166210;

Genes: COL1A1; COL1A2;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0002644	Abnormality of pelvic girdle bone morphology
3	HP:0005623	Absent ossification of calvaria
4	HP:0000923	Beaded ribs
5	HP:0000592	Blue sclerae
6	HP:0005622	Broad long bones
7	HP:0001635	Congestive heart failure
8	HP:0000444	Convex nasal ridge
9	HP:0006367	Crumpled long bones
10	HP:0008873	Disproportionate short-limb short stature
11	HP:0000239	Large fontanelles
12	HP:0005855	Multiple prenatal fractures
13	HP:0001790	Nonimmune hydrops fetalis
14	HP:0000926	Platyspondyly
15	HP:0001622	Premature birth
16	HP:0010444	Pulmonary insufficiency
17	HP:0002757	Recurrent fractures
18	HP:0002093	Respiratory insufficiency
19	HP:0001518	Small for gestational age
20	HP:0000963	Thin skin
21	HP:0002982	Tibial bowing
22	HP:0002645	Wormian bones

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_000088.3(COL1A1):c.4247delC (p.Thr1416Argfs)	1277	COL1A1	Pathogenic	398122835	RCV000034354;	N	MedGen:C0268360,OMIM:166210,SNOMED CT:86470003	17	48263140	48263140	NM_000088.3:c.4247delC	NP_000079.2:p.Thr1416Argfs	NC_000017.10:g.48263140delG	OMIM Allelic Variant:120150.0069	C0268360 166210 Osteogenesis imperfecta, recessive perinatal lethal
NM_000088.3(COL1A1):c.4160C>T (p.Ala1387Val)	1277	COL1A1	Pathogenic	397514672	RCV000034355;	N	MedGen:C0268360,OMIM:166210,SNOMED CT:86470003	17	48263227	48263227	NM_000088.3:c.4160C>T	NP_000079.2:p.Ala1387Val	NC_000017.10:g.48263227G>A	OMIM Allelic Variant:120150.0070	C0268360 166210 Osteogenesis imperfecta, recessive perinatal lethal
NM_000088.3(COL1A1):c.3559G>A (p.Gly1187Ser)	1277	COL1A1	Pathogenic	72656332	RCV000018843;	N	MedGen:C0268360,OMIM:166210,SNOMED CT:86470003	17	48264256	48264256	NM_000088.3:c.3559G>A	NP_000079.2:p.Gly1187Ser	NC_000017.10:g.48264256C>T	OMIM Allelic Variant:120150.0019	C0268360 166210 Osteogenesis imperfecta, recessive perinatal lethal
NM_000088.3(COL1A1):c.3541G>A (p.Gly1181Ser)	1277	COL1A1	Pathogenic	72656330	RCV000018854;	N	MedGen:C0268360,OMIM:166210,SNOMED CT:86470003	17	48264274	48264274	NM_000088.3:c.3541G>A	NP_000079.2:p.Gly1181Ser	NC_000017.10:g.48264274C>T	OMIM Allelic Variant:120150.0031	C0268360 166210 Osteogenesis imperfecta, recessive perinatal lethal
NM_000088.3(COL1A1):c.3496G>T (p.Gly1166Cys)	1277	COL1A1	Pathogenic	72656324	RCV000018842;	N	MedGen:C0268360,OMIM:166210,SNOMED CT:86470003	17	48264411	48264411	NM_000088.3:c.3496G>T	NP_000079.2:p.Gly1166Cys	NC_000017.10:g.48264411C>A	OMIM Allelic Variant:120150.0018	C0268360 166210 Osteogenesis imperfecta, recessive perinatal lethal
NM_000088.3(COL1A1):c.3452G>T (p.Gly1151Val)	1277	COL1A1	Pathogenic	72656321	RCV000018859;	N	MedGen:C0268360,OMIM:166210,SNOMED CT:86470003	17	48264455	48264455	NM_000088.3:c.3452G>T	NP_000079.2:p.Gly1151Val	NC_000017.10:g.48264455C>A	OMIM Allelic Variant:120150.0036	C0268360 166210 Osteogenesis imperfecta, recessive perinatal lethal
NM_000088.3(COL1A1):c.3271G>A (p.Gly1091Ser)	1277	COL1A1	Pathogenic	72656306	RCV000018841;	N	MedGen:C0268360,OMIM:166210,SNOMED CT:86470003	17	48265335	48265335	NM_000088.3:c.3271G>A	NP_000079.2:p.Gly1091Ser	NC_000017.10:g.48265335C>T	OMIM Allelic Variant:120150.0017	C0268360 166210 Osteogenesis imperfecta, recessive perinatal lethal
NM_000088.3(COL1A1):c.3244G>T (p.Gly1082Cys)	1277	COL1A1	Pathogenic	72656303	RCV000018840;	N	MedGen:C0268360,OMIM:166210,SNOMED CT:86470003	17	48265474	48265474	NM_000088.3:c.3244G>T	NP_000079.2:p.Gly1082Cys	NC_000017.10:g.48265474C>A	OMIM Allelic Variant:120150.0016	C0268360 166210 Osteogenesis imperfecta, recessive perinatal lethal
NM_000088.3(COL1A1):c.3182G>A (p.Gly1061Asp)	1277	COL1A1	Pathogenic	72654797	RCV000018839;	N	MedGen:C0268360,OMIM:166210,SNOMED CT:86470003	17	48265916	48265916	NM_000088.3:c.3182G>A	NP_000079.2:p.Gly1061Asp	NC_000017.10:g.48265916C>T	OMIM Allelic Variant:120150.0015	C0268360 166210 Osteogenesis imperfecta, recessive perinatal lethal
NM_000088.3(COL1A1):c.3073G>A (p.Gly1025Arg)	1277	COL1A1	Pathogenic	72653172	RCV000018838;	N	MedGen:C0268360,OMIM:166210,SNOMED CT:86470003	17	48266129	48266129	NM_000088.3:c.3073G>A	NP_000079.2:p.Gly1025Arg	NC_000017.10:g.48266129C>T	OMIM Allelic Variant:120150.0014	C0268360 166210 Osteogenesis imperfecta, recessive perinatal lethal
NM_000088.3(COL1A1):c.2939G>T (p.Gly980Val)	1277	COL1A1	Pathogenic	72653166	RCV000018864;	N	MedGen:C0268360,OMIM:166210,SNOMED CT:86470003	17	48266370	48266370	NM_000088.3:c.2939G>T	NP_000079.2:p.Gly980Val	NC_000017.10:g.48266370C>A	OMIM Allelic Variant:120150.0041	C0268360 166210 Osteogenesis imperfecta, recessive perinatal lethal
NM_000088.3(COL1A1):c.2776G>T (p.Gly926Cys)	1277	COL1A1	Pathogenic	72653154	RCV000018835;	N	MedGen:C0268360,OMIM:166210,SNOMED CT:86470003	17	48266791	48266791	NM_000088.3:c.2776G>T	NP_000079.2:p.Gly926Cys	NC_000017.10:g.48266791C>A	OMIM Allelic Variant:120150.0011	C0268360 166210 Osteogenesis imperfecta, recessive perinatal lethal
NM_000088.3(COL1A1):c.2686G>T (p.Gly896Cys)	1277	COL1A1	Pathogenic	72653152	RCV000018834;	N	MedGen:C0268360,OMIM:166210,SNOMED CT:86470003	17	48266881	48266881	NM_000088.3:c.2686G>T	NP_000079.2:p.Gly896Cys	NC_000017.10:g.48266881C>A	OMIM Allelic Variant:120150.0010	C0268360 166210 Osteogenesis imperfecta, recessive perinatal lethal
NM_000088.3(COL1A1):c.2605G>T (p.Gly869Cys)	1277	COL1A1	Pathogenic	72653143	RCV000018833;	N	MedGen:C0268360,OMIM:166210,SNOMED CT:86470003	17	48267228	48267228	NM_000088.3:c.2605G>T	NP_000079.2:p.Gly869Cys	NC_000017.10:g.48267228C>A	OMIM Allelic Variant:120150.0009	C0268360 166210 Osteogenesis imperfecta, recessive perinatal lethal
NM_000088.3(COL1A1):c.2552G>A (p.Gly851Asp)	1277	COL1A1	Pathogenic	72653137	RCV000018831;	N	MedGen:C0268360,OMIM:166210,SNOMED CT:86470003	17	48267369	48267369	NM_000088.3:c.2552G>A	NP_000079.2:p.Gly851Asp	NC_000017.10:g.48267369C>T	OMIM Allelic Variant:120150.0007	C0268360 166210 Osteogenesis imperfecta, recessive perinatal lethal
NM_000088.3(COL1A1):c.2533G>A (p.Gly845Arg)	1277	COL1A1	Pathogenic	72653136	RCV000018832;	N	MedGen:C0268360,OMIM:166210,SNOMED CT:86470003	17	48267388	48267388	NM_000088.3:c.2533G>A	NP_000079.2:p.Gly845Arg	NC_000017.10:g.48267388C>T	OMIM Allelic Variant:120150.0008	C0268360 166210 Osteogenesis imperfecta, recessive perinatal lethal
NM_000088.3(COL1A1):c.2444G>T (p.Gly815Val)	1277	COL1A1	Pathogenic	66929517	RCV000018855;	N	MedGen:C0268360,OMIM:166210,SNOMED CT:86470003	17	48267695	48267695	NM_000088.3:c.2444G>T	NP_000079.2:p.Gly815Val	NC_000017.10:g.48267695C>A	OMIM Allelic Variant:120150.0032	C0268360 166210 Osteogenesis imperfecta, recessive perinatal lethal
NM_000088.3(COL1A1):c.2291G>T (p.Gly764Val)	1277	COL1A1	Pathogenic	72651657	RCV000018879;	N	MedGen:C0268360,OMIM:166210,SNOMED CT:86470003	17	48268230	48268230	NM_000088.3:c.2291G>T	NP_000079.2:p.Gly764Val	NC_000017.10:g.48268230C>A	OMIM Allelic Variant:120150.0056	C0268360 166210 Osteogenesis imperfecta, recessive perinatal lethal
NM_000088.3(COL1A1):c.2228G>T (p.Gly743Val)	1277	COL1A1	Pathogenic	72651653	RCV000018868;	N	MedGen:C0268360,OMIM:166210,SNOMED CT:86470003	17	48268751	48268751	NM_000088.3:c.2228G>T	NP_000079.2:p.Gly743Val	NC_000017.10:g.48268751C>A	OMIM Allelic Variant:120150.0045	C0268360 166210 Osteogenesis imperfecta, recessive perinatal lethal
NM_000088.3(COL1A1):c.2210G>A (p.Gly737Asp)	1277	COL1A1	Pathogenic	72651651	RCV000018830;	N	MedGen:C0268360,OMIM:166210,SNOMED CT:86470003	17	48268769	48268769	NM_000088.3:c.2210G>A	NP_000079.2:p.Gly737Asp	NC_000017.10:g.48268769C>T	OMIM Allelic Variant:120150.0006	C0268360 166210 Osteogenesis imperfecta, recessive perinatal lethal
NM_000088.3(COL1A1):c.2156G>A (p.Gly719Asp)	1277	COL1A1	Pathogenic	72651646	RCV000018851;	N	MedGen:C0268360,OMIM:166210,SNOMED CT:86470003	17	48268823	48268823	NM_000088.3:c.2156G>A	NP_000079.2:p.Gly719Asp	NC_000017.10:g.48268823C>T	OMIM Allelic Variant:120150.0029	C0268360 166210 Osteogenesis imperfecta, recessive perinatal lethal
NM_000088.3(COL1A1):c.1777G>A (p.Gly593Ser)	1277	COL1A1	Pathogenic	66527965	RCV000018867;	N	MedGen:C0268360,OMIM:166210,SNOMED CT:86470003	17	48270399	48270399	NM_000088.3:c.1777G>A	NP_000079.2:p.Gly593Ser	NC_000017.10:g.48270399C>A,NC_000017.10:g.48270399C>T	OMIM Allelic Variant:120150.0044	C0268360 166210 Osteogenesis imperfecta, recessive perinatal lethal
NM_000088.3(COL1A1):c.1705G>C (p.Gly569Arg)	1277	COL1A1	Pathogenic	72648363	RCV000018828;	N	MedGen:C0268360,OMIM:166210,SNOMED CT:86470003	17	48271366	48271366	NM_000088.3:c.1705G>C	NP_000079.2:p.Gly569Arg	NC_000017.10:g.48271366C>G	OMIM Allelic Variant:120150.0004	C0268360 166210 Osteogenesis imperfecta, recessive perinatal lethal
NM_000088.3(COL1A1):c.1598G>A (p.Gly533Asp)	1277	COL1A1	Pathogenic	72648356	RCV000018870;	N	MedGen:C0268360,OMIM:166210,SNOMED CT:86470003	17	48271726	48271726	NM_000088.3:c.1598G>A	NP_000079.2:p.Gly533Asp	NC_000017.10:g.48271726C>T	OMIM Allelic Variant:120150.0047	C0268360 166210 Osteogenesis imperfecta, recessive perinatal lethal
NM_000088.3(COL1A1):c.1301G>T (p.Gly434Val)	1277	COL1A1	Pathogenic	72648333	RCV000018860;	N	MedGen:C0268360,OMIM:166210,SNOMED CT:86470003	17	48272460	48272460	NM_000088.3:c.1301G>T	NP_000079.2:p.Gly434Val	NC_000017.10:g.48272460C>A	OMIM Allelic Variant:120150.0037	C0268360 166210 Osteogenesis imperfecta, recessive perinatal lethal
NM_000088.3(COL1A1):c.824G>A (p.Gly275Asp)	1277	COL1A1	Pathogenic	72645333	RCV000018825;	N	MedGen:C0268360,OMIM:166210,SNOMED CT:86470003	17	48274012	48274012	NM_000088.3:c.824G>A	NP_000079.2:p.Gly275Asp	NC_000017.10:g.48274012C>T	OMIM Allelic Variant:120150.0001	C0268360 166210 Osteogenesis imperfecta, recessive perinatal lethal
NM_000089.3(COL1A2):c.1262G>A (p.Gly421Asp)	1278	COL1A2	Pathogenic	267606741	RCV000018822;	N	MedGen:C0268360,OMIM:166210,SNOMED CT:86470003	7	94040378	94040378	NM_000089.3:c.1262G>A	NP_000080.2:p.Gly421Asp	NC_000007.13:g.94040378G>A	OMIM Allelic Variant:120160.0053	C0268360 166210 Osteogenesis imperfecta, recessive perinatal lethal
NM_000089.3(COL1A2):c.1414G>T (p.Gly472Cys)	1278	COL1A2	Pathogenic	121912906	RCV000018789;	N	MedGen:C0268360,OMIM:166210,SNOMED CT:86470003	7	94041905	94041905	NM_000089.3:c.1414G>T	NP_000080.2:p.Gly472Cys	NC_000007.13:g.94041905G>T	OMIM Allelic Variant:120160.0019	C0268360 166210 Osteogenesis imperfecta, recessive perinatal lethal
NM_000089.3(COL1A2):c.1504G>A (p.Gly502Ser)	1278	COL1A2	Pathogenic	121912910	RCV000018803;	N	MedGen:C0268360,OMIM:166210,SNOMED CT:86470003	7	94042395	94042395	NM_000089.3:c.1504G>A	NP_000080.2:p.Gly502Ser	NC_000007.13:g.94042395G>A	OMIM Allelic Variant:120160.0034	C0268360 166210 Osteogenesis imperfecta, recessive perinatal lethal
NM_000089.3(COL1A2):c.1640G>A (p.Gly547Asp)	1278	COL1A2	Pathogenic	121912901	RCV000018781;	N	MedGen:C0268360,OMIM:166210,SNOMED CT:86470003	7	94043234	94043234	NM_000089.3:c.1640G>A	NP_000080.2:p.Gly547Asp	NC_000007.13:g.94043234G>A	OMIM Allelic Variant:120160.0010	C0268360 166210 Osteogenesis imperfecta, recessive perinatal lethal
NM_000089.3(COL1A2):c.1739G>A (p.Gly580Asp)	1278	COL1A2	Pathogenic	121912909	RCV000018798;	N	MedGen:C0268360,OMIM:166210,SNOMED CT:86470003	7	94044557	94044557	NM_000089.3:c.1739G>A	NP_000080.2:p.Gly580Asp	NC_000007.13:g.94044557G>A	OMIM Allelic Variant:120160.0029	C0268360 166210 Osteogenesis imperfecta, recessive perinatal lethal
NC_000007.14:g.94418886_94423301del4416	1278	COL1A2	Pathogenic	74315138	RCV000018778;	N	MedGen:C0268360,OMIM:166210,SNOMED CT:86470003	7	94048198	94052613	-	-		OMIM Allelic Variant:120160.0007,Osteogenesis Imperfecta Mutation Database COL1A2:COL1A2_00214	C0268360 166210 Osteogenesis imperfecta, recessive perinatal lethal
NM_000089.3(COL1A2):c.2080G>C (p.Gly694Arg)	1278	COL1A2	Pathogenic	121912908	RCV000018795;	N	MedGen:C0268360,OMIM:166210,SNOMED CT:86470003	7	94049545	94049545	NM_000089.3:c.2080G>C	NP_000080.2:p.Gly694Arg	NC_000007.13:g.94049545G>C	OMIM Allelic Variant:120160.0025	C0268360 166210 Osteogenesis imperfecta, recessive perinatal lethal
NM_000089.3(COL1A2):c.2414G>A (p.Gly805Asp)	1278	COL1A2	Pathogenic	121912904	RCV000018786;	N	MedGen:C0268360,OMIM:166210,SNOMED CT:86470003	7	94052279	94052279	NM_000089.3:c.2414G>A	NP_000080.2:p.Gly805Asp	NC_000007.13:g.94052279G>A	OMIM Allelic Variant:120160.0016	C0268360 166210 Osteogenesis imperfecta, recessive perinatal lethal
NM_000089.3(COL1A2):c.2593G>A (p.Gly865Ser)	1278	COL1A2	Pathogenic	121912902	RCV000018782;	N	MedGen:C0268360,OMIM:166210,SNOMED CT:86470003	7	94053675	94053675	NM_000089.3:c.2593G>A	NP_000080.2:p.Gly865Ser	NC_000007.13:g.94053675G>A	OMIM Allelic Variant:120160.0011	C0268360 166210 Osteogenesis imperfecta, recessive perinatal lethal
NM_000089.3(COL1A2):c.2720G>A (p.Gly907Asp)	1278	COL1A2	Pathogenic	121912900	RCV000018779;	N	MedGen:C0268360,OMIM:166210,SNOMED CT:86470003	7	94054475	94054475	NM_000089.3:c.2720G>A	NP_000080.2:p.Gly907Asp	NC_000007.13:g.94054475G>A	OMIM Allelic Variant:120160.0008	C0268360 166210 Osteogenesis imperfecta, recessive perinatal lethal
NM_000089.3(COL1A2):c.2957C>T (p.Pro986Leu)	1278	COL1A2	Likely pathogenic	768171831	RCV000199225;	N	MedGen:C0268360,OMIM:166210,SNOMED CT:86470003; MedGen:C0268362,OMIM:259420,ORPHA:216812,SNOMED CT:385483009; MedGen:C0268363,OMIM:166220,SNOMED CT:205497004	7	94055323	94055323	NM_000089.3:c.2957C>T	NP_000080.2:p.Pro986Leu	NC_000007.13:g.94055323C>T	-	C0268362 259420 Osteogenesis imperfecta type III; C0268363 166220 Osteogenesis imperfecta with normal sclerae, dominant form; C0268360 166210 Osteogenesis imperfecta, recessive perinatal lethal
NM_000089.3(COL1A2):c.3034G>A (p.Gly1012Ser)	1278	COL1A2	Likely pathogenic	72659319	RCV000197038;	N	MedGen:C0268360,OMIM:166210,SNOMED CT:86470003; MedGen:C0268362,OMIM:259420,ORPHA:216812,SNOMED CT:385483009; MedGen:C0268363,OMIM:166220,SNOMED CT:205497004	7	94055771	94055771	NM_000089.3:c.3034G>A	NP_000080.2:p.Gly1012Ser	NC_000007.13:g.94055771G>A,NC_000007.13:g.94055771G>C	-	C0268362 259420 Osteogenesis imperfecta type III; C0268363 166220 Osteogenesis imperfecta with normal sclerae, dominant form; C0268360 166210 Osteogenesis imperfecta, recessive perinatal lethal