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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 4 (C536045)
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:

8397

Name:

Osteogenesis imperfecta, type 4

Definition:

Alternative IDs:

OMIM:166220

ParentIDs:

MESH:D010013

TreeNumbers:

C05.116.099.708.685/C536045 |C16.320.737/C536045 |C17.300.200.540/C536045

Synonyms:

OI4 |OI, TYPE IV |Osteogenesis Imperfecta, Type IV |Osteogenesis imperfecta with normal sclerae

Slim Mappings:

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

Reference:

MedGen: C536045
MeSH: C536045
OMIM: 166220;

Genes: COL1A1; COL1A2;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0003321	Biconcave flattened vertebrae
3	HP:0000592	Blue sclerae	HP:0040284
4	HP:0003023	Bowing of limbs due to multiple fractures
5	HP:0000703	Dentinogenesis imperfecta
6	HP:0005005	Femoral bowing present at birth, straightening with time
7	HP:0000365	Hearing impairment
8	HP:0002808	Kyphosis
9	HP:0000362	Otosclerosis
10	HP:0002757	Recurrent fractures
11	HP:0004349	Reduced bone mineral density
12	HP:0002650	Scoliosis
13	HP:0004322	Short stature
14	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.3028G>A (p.Gly1010Ser)	1277	COL1A1	Pathogenic	72653169	RCV000018836;	N	MedGen:C0268363,OMIM:166220,SNOMED CT:205497004	17	48266281	48266281	NM_000088.3:c.3028G>A	NP_000079.2:p.Gly1010Ser	NC_000017.10:g.48266281C>T	OMIM Allelic Variant:120150.0012	C0268363 166220 Osteogenesis imperfecta with normal sclerae, dominant form
NM_000088.3(COL1A1):c.1057G>T (p.Gly353Cys)	1277	COL1A1	Pathogenic	66721653	RCV000018827;	N	MedGen:C0268363,OMIM:166220,SNOMED CT:205497004	17	48273026	48273026	NM_000088.3:c.1057G>T	NP_000079.2:p.Gly353Cys	NC_000017.10:g.48273026C>A	OMIM Allelic Variant:120150.0003	C0268363 166220 Osteogenesis imperfecta with normal sclerae, dominant form
NM_000088.3(COL1A1):c.91C>T (p.Gln31Ter)	1277	COL1A1	Pathogenic	794726873	RCV000173063; RCV000173062;	N	MedGen:C0023931,OMIM:166200,SNOMED CT:385482004; MedGen:C0268363,OMIM:166220,SNOMED CT:205497004	17	48278784	48278784	NM_000088.3:c.91C>T	NP_000079.2:p.Gln31Ter	NC_000017.10:g.48278784G>A	-	C0023931 166200 Osteogenesis imperfecta type I; C0268363 166220 Osteogenesis imperfecta with normal sclerae, dominant form
NM_000089.3(COL1A2):c.1136G>C (p.Gly379Ala)	1278	COL1A2	Pathogenic	121912912	RCV000018819;	N	MedGen:C0268363,OMIM:166220,SNOMED CT:205497004	7	94039778	94039778	NM_000089.3:c.1136G>C	NP_000080.2:p.Gly379Ala	NC_000007.13:g.94039778G>C	OMIM Allelic Variant:120160.0050	C0268363 166220 Osteogenesis imperfecta with normal sclerae, dominant form
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.1936G>T (p.Gly646Cys)	1278	COL1A2	Pathogenic	121912903	RCV000018783;	N	MedGen:C0268363,OMIM:166220,SNOMED CT:205497004	7	94047108	94047108	NM_000089.3:c.1936G>T	NP_000080.2:p.Gly646Cys	NC_000007.13:g.94047108G>T	OMIM Allelic Variant:120160.0013	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.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>C (p.Gly1012Arg)	1278	COL1A2	Pathogenic	72659319	RCV000018775;	N	MedGen:C0268363,OMIM:166220,SNOMED CT:205497004	7	94055771	94055771	NM_000089.3:c.3034G>C	NP_000080.2:p.Gly1012Arg	NC_000007.13:g.94055771G>A,NC_000007.13:g.94055771G>C	OMIM Allelic Variant:120160.0004	C0268363 166220 Osteogenesis imperfecta with normal sclerae, dominant form
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.3279_3287delTCCCCCTGG (p.Pro1100_Gly1102del)	1278	COL1A2	Pathogenic	74315103	RCV000018804;	N	MedGen:C0268363,OMIM:166220,SNOMED CT:205497004	7	94056950	94056958	NM_000089.3:c.3279_3287delTCCCCCTGG	NP_000080.2:p.Pro1100_Gly1102del	NC_000007.13:g.94056950_94056958delTCCCCCTGG	OMIM Allelic Variant:120160.0035	C0268363 166220 Osteogenesis imperfecta with normal sclerae, dominant form