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Hello! Guest! Please Login or Register! Clinician Mode

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 3 (C536044)
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:

8396

Name:

Osteogenesis imperfecta, type 3

Definition:

Alternative IDs:

OMIM:259420

ParentIDs:

MESH:D010013

TreeNumbers:

C05.116.099.708.685/C536044 |C16.320.737/C536044 |C17.300.200.540/C536044

Synonyms:

OI3 |OI, TYPE III |Osteogenesis imperfecta, progressively deforming, with normal sclerae |Osteogenesis Imperfecta, Type III

Slim Mappings:

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

Reference:

MedGen: C536044
MeSH: C536044
OMIM: 259420;

Genes: COL1A1; COL1A2;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000007	Autosomal recessive inheritance
3	HP:0000765	Abnormal thorax morphology
4	HP:0000707	Abnormality of the nervous system
5	HP:0005758	Basilar impression
6	HP:0004586	Biconcave vertebral bodies
7	HP:0000592	Blue sclerae
8	HP:0003023	Bowing of limbs due to multiple fractures
9	HP:0005474	Decreased calvarial ossification
10	HP:0000703	Dentinogenesis imperfecta
11	HP:0002007	Frontal bossing
12	HP:0000365	Hearing impairment
13	HP:0002808	Kyphosis
14	HP:0000347	Micrognathia
15	HP:0005855	Multiple prenatal fractures
16	HP:0008921	Neonatal short-limb short stature
17	HP:0002691	Platybasia
18	HP:0003179	Protrusio acetabuli
19	HP:0002092	Pulmonary arterial hypertension
20	HP:0002757	Recurrent fractures
21	HP:0002650	Scoliosis
22	HP:0005897	Severe generalized osteoporosis
23	HP:0003100	Slender long bone
24	HP:0002982	Tibial bowing
25	HP:0000325	Triangular face
26	HP:0000260	Wide anterior fontanel
27	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.4391T>C (p.Leu1464Pro)	1277	COL1A1	Pathogenic	72656353	RCV000018873;	N	MedGen:C0268362,OMIM:259420,ORPHA:216812,SNOMED CT:385483009	17	48262867	48262867	NM_000088.3:c.4391T>C	NP_000079.2:p.Leu1464Pro	NC_000017.10:g.48262867A>G	OMIM Allelic Variant:120150.0050	C0268362 259420 Osteogenesis imperfecta type III
NM_000088.3(COL1A1):c.3118G>A (p.Gly1040Ser)	1277	COL1A1	Pathogenic	72653178	RCV000018871;	N	MedGen:C0268362,OMIM:259420,ORPHA:216812,SNOMED CT:385483009	17	48265980	48265980	NM_000088.3:c.3118G>A	NP_000079.2:p.Gly1040Ser	NC_000017.10:g.48265980C>T	OMIM Allelic Variant:120150.0048	C0268362 259420 Osteogenesis imperfecta type III
NM_000088.3(COL1A1):c.3064G>A (p.Gly1022Ser)	1277	COL1A1	Pathogenic	66523073	RCV000018837;	N	MedGen:C0268362,OMIM:259420,ORPHA:216812,SNOMED CT:385483009	17	48266138	48266138	NM_000088.3:c.3064G>A	NP_000079.2:p.Gly1022Ser	NC_000017.10:g.48266138C>T	OMIM Allelic Variant:120150.0013	C0268362 259420 Osteogenesis imperfecta type III
NM_000088.3(COL1A1):c.2515G>A (p.Gly839Ser)	1277	COL1A1	Pathogenic	72653131	RCV000018872;	N	MedGen:C0268362,OMIM:259420,ORPHA:216812,SNOMED CT:385483009	17	48267406	48267406	NM_000088.3:c.2515G>A	NP_000079.2:p.Gly839Ser	NC_000017.10:g.48267406C>T	OMIM Allelic Variant:120150.0049	C0268362 259420 Osteogenesis imperfecta type III
NM_000088.3(COL1A1):c.2110G>T (p.Gly704Cys)	1277	COL1A1	Pathogenic	67368147	RCV000018829;	N	MedGen:C0268362,OMIM:259420,ORPHA:216812,SNOMED CT:385483009	17	48269166	48269166	NM_000088.3:c.2110G>T	NP_000079.2:p.Gly704Cys	NC_000017.10:g.48269166C>A	OMIM Allelic Variant:120150.0005	C0268362 259420 Osteogenesis imperfecta type III
NM_000088.3(COL1A1):c.1588G>A (p.Gly530Ser)	1277	COL1A1	Pathogenic	67682641	RCV000018865;	N	MedGen:C0268362,OMIM:259420,ORPHA:216812,SNOMED CT:385483009	17	48271736	48271736	NM_000088.3:c.1588G>A	NP_000079.2:p.Gly530Ser	NC_000017.10:g.48271736C>T	OMIM Allelic Variant:120150.0042	C0268362 259420 Osteogenesis imperfecta type III
NM_000088.3(COL1A1):c.994G>A (p.Gly332Arg)	1277	COL1A1	Pathogenic	72645357	RCV000018853; RCV000029586;	N	MedGen:C0029434,ORPHA:666,SNOMED CT:78314001; MedGen:C0268362,OMIM:259420,ORPHA:216812,SNOMED CT:385483009	17	48273524	48273524	NM_000088.3:c.994G>A	NP_000079.2:p.Gly332Arg	NC_000017.10:g.48273524C>T	OMIM Allelic Variant:120150.0030	C0029434 Osteogenesis imperfecta; C0268362 259420 Osteogenesis imperfecta type III
NM_000088.3(COL1A1):c.959G>A (p.Gly320Asp)	1277	COL1A1	Likely pathogenic	72645353	RCV000174826;	N	MedGen:C0268362,OMIM:259420,ORPHA:216812,SNOMED CT:385483009	17	48273559	48273559	NM_000088.3:c.959G>A	NP_000079.2:p.Gly320Asp	NC_000017.10:g.48273559C>T	-	C0268362 259420 Osteogenesis imperfecta type III
NM_000088.3(COL1A1):c.761G>A (p.Gly254Glu)	1277	COL1A1	Pathogenic	72645320	RCV000018892;	N	MedGen:C0268362,OMIM:259420,ORPHA:216812,SNOMED CT:385483009	17	48274414	48274414	NM_000088.3:c.761G>A	NP_000079.2:p.Gly254Glu	NC_000017.10:g.48274414C>T	OMIM Allelic Variant:120150.0065	C0268362 259420 Osteogenesis imperfecta type III
NM_000089.3(COL1A2):c.775G>T (p.Gly259Cys)	1278	COL1A2	Pathogenic	121912905	RCV000018787;	N	MedGen:C0268362,OMIM:259420,ORPHA:216812,SNOMED CT:385483009	7	94038118	94038118	NM_000089.3:c.775G>T	NP_000080.2:p.Gly259Cys	NC_000007.13:g.94038118G>T	OMIM Allelic Variant:120160.0017	C0268362 259420 Osteogenesis imperfecta type III
NM_000089.3(COL1A2):c.1099G>T (p.Gly367Trp)	1278	COL1A2	Pathogenic	72656402	RCV000018813;	N	MedGen:C0268362,OMIM:259420,ORPHA:216812,SNOMED CT:385483009	7	94039741	94039741	NM_000089.3:c.1099G>T	NP_000080.2:p.Gly367Trp	NC_000007.13:g.94039741G>T	OMIM Allelic Variant:120160.0044	C0268362 259420 Osteogenesis imperfecta type III
NM_000089.3(COL1A2):c.1757G>T (p.Gly586Val)	1278	COL1A2	Pathogenic	121912907	RCV000018794; RCV000018793;	N	MedGen:C0268362,OMIM:259420,ORPHA:216812,SNOMED CT:385483009; MedGen:C0268363,OMIM:166220,SNOMED CT:205497004	7	94044575	94044575	NM_000089.3:c.1757G>T	NP_000080.2:p.Gly586Val	NC_000007.13:g.94044575G>T	OMIM Allelic Variant:120160.0023,OMIM Allelic Variant:120160.0038	C0268362 259420 Osteogenesis imperfecta type III; C0268363 166220 Osteogenesis imperfecta with normal sclerae, dominant form
NM_000089.3(COL1A2):c.1971+1G>A	1278	COL1A2	Pathogenic	72658151	RCV000177588; RCV000177589;	N	MedGen:C0268362,OMIM:259420,ORPHA:216812,SNOMED CT:385483009; MedGen:C0268363,OMIM:166220,SNOMED CT:205497004	7	94047144	94047144	NM_000089.3:c.1971+1G>A		NC_000007.13:g.94047144G>A	-	C0268362 259420 Osteogenesis imperfecta type III; C0268363 166220 Osteogenesis imperfecta with normal sclerae, dominant form
NM_000089.3(COL1A2):c.2099G>A (p.Gly700Asp)	1278	COL1A2	Pathogenic	72658161	RCV000177822; RCV000177823;	N	MedGen:C0268362,OMIM:259420,ORPHA:216812,SNOMED CT:385483009; MedGen:C0268363,OMIM:166220,SNOMED CT:205497004	7	94049564	94049564	NM_000089.3:c.2099G>A	NP_000080.2:p.Gly700Asp	NC_000007.13:g.94049564G>A	-	C0268362 259420 Osteogenesis imperfecta type III; C0268363 166220 Osteogenesis imperfecta with normal sclerae, dominant form
NM_000089.3(COL1A2):c.2251G>A (p.Gly751Ser)	1278	COL1A2	Pathogenic	72658176	RCV000018808;	N	MedGen:C0268362,OMIM:259420,ORPHA:216812,SNOMED CT:385483009	7	94049916	94049916	NM_000089.3:c.2251G>A	NP_000080.2:p.Gly751Ser	NC_000007.13:g.94049916G>A	OMIM Allelic Variant:120160.0039	C0268362 259420 Osteogenesis imperfecta type III
NM_000089.3(COL1A2):c.2575G>A (p.Gly859Ser)	1278	COL1A2	Pathogenic	72658200	RCV000018802;	N	MedGen:C0268362,OMIM:259420,ORPHA:216812,SNOMED CT:385483009	7	94053657	94053657	NM_000089.3:c.2575G>A	NP_000080.2:p.Gly859Ser	NC_000007.13:g.94053657G>A	OMIM Allelic Variant:120160.0033	C0268362 259420 Osteogenesis imperfecta type III
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.3017G>C (p.Gly1006Ala)	1278	COL1A2	Pathogenic	121912911	RCV000018806;	N	MedGen:C0268362,OMIM:259420,ORPHA:216812,SNOMED CT:385483009	7	94055754	94055754	NM_000089.3:c.3017G>C	NP_000080.2:p.Gly1006Ala	NC_000007.13:g.94055754G>C	OMIM Allelic Variant:120160.0037	C0268362 259420 Osteogenesis imperfecta type III
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
NM_000089.3(COL1A2):c.3269G>A (p.Gly1090Asp)	1278	COL1A2	Pathogenic	267606742	RCV000018823;	N	MedGen:C0268362,OMIM:259420,ORPHA:216812,SNOMED CT:385483009	7	94056940	94056940	NM_000089.3:c.3269G>A	NP_000080.2:p.Gly1090Asp	NC_000007.13:g.94056940G>A	OMIM Allelic Variant:120160.0054	C0268362 259420 Osteogenesis imperfecta type III
NM_000089.3(COL1A2):c.3295G>A (p.Gly1099Arg)	1278	COL1A2	Pathogenic	72659338	RCV000018824;	N	MedGen:C0268362,OMIM:259420,ORPHA:216812,SNOMED CT:385483009	7	94056966	94056966	NM_000089.3:c.3295G>A	NP_000080.2:p.Gly1099Arg	NC_000007.13:g.94056966G>A	OMIM Allelic Variant:120160.0055	C0268362 259420 Osteogenesis imperfecta type III
NM_000089.3(COL1A2):c.4001_4004delATAA (p.Asn1334Serfs)	1278	COL1A2	Pathogenic	72659345	RCV000018776;	N	MedGen:C0268362,OMIM:259420,ORPHA:216812,SNOMED CT:385483009	7	94059605	94059608	NM_000089.3:c.4001_4004delATAA	NP_000080.2:p.Asn1334Serfs	NC_000007.13:g.94059605_94059608delATAA	OMIM Allelic Variant:120160.0005	C0268362 259420 Osteogenesis imperfecta type III