MCID: OST080
MIFTS: 50

Osteogenesis Imperfecta, Type Ii malady

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases, Oral diseases

Aliases & Classifications for Osteogenesis Imperfecta, Type Ii

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Aliases & Descriptions for Osteogenesis Imperfecta, Type Ii:

Name: Osteogenesis Imperfecta, Type Ii 50 48
Osteogenesis Imperfecta Congenita Perinatal Lethal Form 46 68
Vrolik Type of Osteogenesis Imperfecta 46 68
Osteogenesis Imperfecta Congenita 46 68
Osteogenesis Imperfecta Type 2 46 52
Lethal Osteogenesis Imperfecta 46 52
Oi Type 2 46 52
Osteogenesis Imperfecta Type Ii Autosomal Dominant 68
Osteogenesis Imperfecta, Dominant Perinatal Lethal 66
Osteogenesis Imperfecta Type Iia 68
 
Osteogenesis Imperfecta Type Ii 46
Osteogenesis Imperfecta 2 68
Perinatally Lethal Oi 46
Oi, Type Ii 68
Oi Type Iia 68
Oi-Iia 68
Oi-Ii 68
Oic 68
Oi2 68

Characteristics:

Orphanet epidemiological data:

52
osteogenesis imperfecta type 2:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal; Age of death: early childhood

HPO:

62
osteogenesis imperfecta, type ii:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 166210
Orphanet52 ORPHA216804
ICD10 via Orphanet29 Q78.0
MeSH37 D010013

Summaries for Osteogenesis Imperfecta, Type Ii

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UniProtKB/Swiss-Prot:68 Osteogenesis imperfecta 2: An autosomal dominant form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI2 is characterized by bone fragility, with many perinatal fractures, severe bowing of long bones, undermineralization, and death in the perinatal period due to respiratory insufficiency.

MalaCards based summary: Osteogenesis Imperfecta, Type Ii, also known as osteogenesis imperfecta congenita perinatal lethal form, is related to osteogenesis imperfecta, type vii and osteogenesis imperfecta, type iv, and has symptoms including large fontanelles, convex nasal ridge and blue sclerae. An important gene associated with Osteogenesis Imperfecta, Type Ii is COL1A1 (Collagen Type I Alpha 1 Chain), and among its related pathways are Cell adhesion_Endothelial cell contacts by non-junctional mechanisms and Cell adhesion_ECM remodeling. Affiliated tissues include bone, skin and heart, and related mouse phenotypes are muscle and integument.

OMIM:50 Osteogenesis imperfecta type II constitutes a disorder characterized by bone fragility, with many perinatal fractures,... (166210) more...

Related Diseases for Osteogenesis Imperfecta, Type Ii

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Diseases in the Osteogenesis Imperfecta family:

Osteogenesis Imperfecta, Type Viii Osteogenesis Imperfecta, Type Vii
Osteogenesis Imperfecta, Type Xvii Osteogenesis Imperfecta, Type Iv
Osteogenesis Imperfecta, Type Iii osteogenesis imperfecta, type ii
Osteogenesis Imperfecta, Type Xiii Osteogenesis Imperfecta, Type Xiv
Osteogenesis Imperfecta, Type V Osteogenesis Imperfecta, Type Xvi
Osteogenesis Imperfecta, Type X Osteogenesis Imperfecta, Type Xv
Osteogenesis Imperfecta, Type Xii Osteogenesis Imperfecta, Type Ix
Osteogenesis Imperfecta, Type Vi Osteogenesis Imperfecta, Type Xi
Osteogenesis Imperfecta, Type I Bmp1-Related Osteogenesis Imperfecta
Crtap-Related Osteogenesis Imperfecta Fkbp10-Related Osteogenesis Imperfecta
Ifitm5-Related Osteogenesis Imperfecta Lepre1-Related Osteogenesis Imperfecta
Ppib-Related Osteogenesis Imperfecta Serpinf1-Related Osteogenesis Imperfecta
Serpinh1-Related Osteogenesis Imperfecta Sp7-Related Osteogenesis Imperfecta
Tmem38b-Related Osteogenesis Imperfecta Sparc-Related Osteogenesis Imperfecta
Wnt1-Related Osteogenesis Imperfecta

Diseases related to Osteogenesis Imperfecta, Type Ii via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 35)
idRelated DiseaseScoreTop Affiliating Genes
1osteogenesis imperfecta, type vii31.5CD36, CRTAP
2osteogenesis imperfecta, type iv30.6COL1A1, COL1A2
3osteogenesis imperfecta congenita, microcephaly, and cataracts12.1
4perinatally lethal osteogenesis imperfecta11.2
5osteogenesis imperfecta10.6
6infundibulo-neurohypophysitis10.3COL1A1, COL1A2
7contractures-webbed neck-micrognathia-hypoplastic nipples syndrome10.3COL1A1, COL1A2
8elliptocytosis 310.3COL1A1, COL1A2
9deafness, autosomal recessive 9110.3COL1A1, COL1A2
10ehlers-danlos syndrome, classic type10.2COL1A1, COL1A2
11osteogenesis imperfecta, type viii10.2
12osteogenesis imperfecta, type xiii10.2
13osteogenesis imperfecta, type xiv10.2
14osteogenesis imperfecta, type v10.2
15osteogenesis imperfecta, type xv10.2
16constipation10.1
17descending colon cancer10.1COL1A1, COL1A2
18hodgkin's lymphoma, lymphocytic-histiocytic predominance10.1COL1A1, COL1A2
19tinea profunda10.1COL1A1, COL1A2
20syphilitic myelopathy10.0COL1A1, FGFR3
21hydrocephalus10.0
22diabetic foot ulcers9.9COL1A1, COL1A2, CRTAP
23vulvovaginal candidiasis9.7COL1A1, COL1A2, FGFR3
24sclerosteosis9.7COL1A1, COL1A2, FGFR3
25pex7-related refsum disease9.6CD36, COL1A1, COL1A2
26mental retardation, autosomal recessive 359.6CD36, COL1A1, COL1A2
27ceroid lipofuscinosis, neuronal, 119.6CD36, COL1A1, COL1A2
28jackson-weiss syndrome9.6COL1A1, FGFR3
29chylomicron retention disease9.2CD36, COL1A1, COL1A2
30fetishism8.9COL1A1, COL1A2, CRTAP, P3H1, PPIB
31osteogenesis imperfecta, type iii8.6CD36, COL1A1, COL1A2, CRTAP, PPIB
32ischemic bone disease8.3COL1A1, COL1A2, CRTAP, FGFR3, P3H1, PPIB
33osteogenesis imperfecta, type ii8.2CD36, COL1A1, COL1A2, CRTAP, P3H1, PPIB
34carnitine palmitoyltransferase ii deficiency8.2CD36, COL1A1, COL1A2, CRTAP, P3H1, PPIB
35ehlers-danlos syndrome, cardiac valvular form7.6CD36, COL1A1, COL1A2, CRTAP, FGFR3, P3H1

Graphical network of the top 20 diseases related to Osteogenesis Imperfecta, Type Ii:



Diseases related to osteogenesis imperfecta, type ii

Symptoms for Osteogenesis Imperfecta, Type Ii

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Symptoms by clinical synopsis from OMIM:

166210

Clinical features from OMIM:

166210

HPO human phenotypes related to Osteogenesis Imperfecta, Type Ii:

(show all 21)
id Description Frequency HPO Source Accession
1 large fontanelles HP:0000239
2 convex nasal ridge HP:0000444
3 blue sclerae HP:0000592
4 beaded ribs HP:0000923
5 platyspondyly HP:0000926
6 thin skin HP:0000963
7 small for gestational age HP:0001518
8 premature birth HP:0001622
9 congestive heart failure HP:0001635
10 nonimmune hydrops fetalis HP:0001790
11 respiratory insufficiency HP:0002093
12 abnormality of pelvic girdle bone morphology HP:0002644
13 wormian bones HP:0002645
14 recurrent fractures HP:0002757
15 tibial bowing HP:0002982
16 broad long bones HP:0005622
17 absent ossification of calvaria HP:0005623
18 multiple prenatal fractures HP:0005855
19 crumpled long bones HP:0006367
20 disproportionate short-limb short stature HP:0008873
21 pulmonary insufficiency HP:0010444

Drugs & Therapeutics for Osteogenesis Imperfecta, Type Ii

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Drugs for Osteogenesis Imperfecta, Type Ii (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
MiconazolePhase 1357322916-47-84189
Synonyms:
(+-)-1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole
1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole
1-(2,4-dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl) imidazole
1-[2,4-Dichloro- beta-([2,4-dichloro- benzyl]oxy)phenethyl]imidazole
1-[2-(2,4-Dichloro-benzyloxy)-2-(2,4-dichloro-phenyl)-ethyl]-1H-imidazole
1-[2-(2,4-Dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]-1H-imidazole
1-[2-(2,4-dichlorobenzyloxy)-2-(2,4-dichlorophenyl)ethyl]-1H-imidazole
1-[2-(2,4-dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]imidazole
1-[2-(2,4-dichlorophenyl)-2-{[(2,4-dichlorophenyl)methyl]oxy}ethyl]-1H-imidazole
1-{2-[(2,4-dichlorobenzyl)oxy]-2-(2,4-dichlorophenyl)ethyl}-1H-imidazole
22832-87-7 (NITRATE)
22916-47-8
75319-47-0
AB00053500
AC1L1HM1
AKOS001574474
Aflorix(nitrate)
Albistat(nitrate)
Andergin(nitrate)
BPBio1_000279
BRD-A82396632-001-03-0
BRD-A82396632-008-02-7
BRN 0965511
BSPBio_000253
BSPBio_002033
CCRIS 7924
CHEBI:6923
CHEMBL91
CID4189
CPD-4501
Conofite(nitrate)
D00416
DB01110
Dactarin
Daktarin IV
Daktarin iv
DivK1c_000156
EINECS 245-324-5
Epi-Monistat(nitrate)
Femizol-M
Florid(nitrate)
Gyno-Daktar(nitrate)
HMS1568M15
HMS2090B21
I14-14342
IDI1_000156
Imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl)methoxy)ethyl)- (9CI)
KBio1_000156
KBio2_001445
KBio2_004013
KBio2_006581
KBio3_001533
KBioGR_000581
KBioSS_001445
LS-78378
Lotrimin AF(nitrate)
MCZ
MJR 1762
MLS002222203
Micantin (nitrate)
Miconasil Nitrate
 
Miconazol
Miconazol [INN-Spanish]
Miconazole
Miconazole (JP15/USP/INN)
Miconazole 3
Miconazole 3 Combination Pack
Miconazole 7 Combination Pack
Miconazole [USAN:BAN:INN:JAN]
Miconazole nitrate salt
Miconazole-7
Miconazolo
Miconazolo [DCIT]
Miconazolum
Miconazolum [INN-Latin]
Micozole
Minostate
MolPort-002-557-553
Monazole 7
Monista (nitrate)
Monistat
Monistat (TN)
Monistat 1 Combination Pack
Monistat 3 Dual-Pak
Monistat 3 Vaginal Ovules
Monistat 5 Tampon
Monistat 7 Dual-Pak
Monistat 7 Vaginal Suppositories
Monistat Dual- PAK
Monistat IV
Monistat iv (TN)
Monistat iv (tn)
Monistat-Derm
NCI60_001353
NCI60_001380
NINDS_000156
NSC 170986
NSC169434
NSC170986
Novo-Miconazole Vaginal Ovules
Oprea1_091955
Prestwick0_000067
Prestwick1_000067
Prestwick2_000067
Prestwick3_000067
Prestwick_335
R 18134
R-14,889
SMR001307249
SPBio_000976
SPBio_002174
STK834405
STOCK1S-93556
Spectrum2_001048
Spectrum3_000507
Spectrum4_000061
Spectrum5_001297
Spectrum_000965
UNII-7NNO0D7S5M
Vusion
Zimycan
imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl) methoxy)ethyl)- (9CI)
miconazole
2
CyclophosphamidePhase 1275650-18-0, 6055-19-22907
Synonyms:
(+-)-Cyclophosphamide
(-)-Cyclophosphamide
(RS)-Cyclophosphamide
1-(bis(2-chloroethyl)amino)-1-oxo-2-aza-5-oxaphosphoridine
1-Bis(2-chloroethyl)amino-1-oxo-2-aza-5-oxaphosphoridin
2-[Bis(2-chloroethylamino)]-tetrahydro-2H-1,3,2-oxazaphosphorine-2-oxide
4-Hydroxy-cyclophosphan-mamophosphatide
50-18-0
60007-95-6
6055-19-2 (monohydrate)
75526-90-8
AC1L1EQQ
AI3-26198
ASTA
ASTA B518
Anhydrous cyclophosphamide
Asta B 518
B 518
B-518
BRN 0011744
BSPBio_002099
Bis(2-chloroethyl)phosphoramide cyclic propanolamide ester
C 0768
C07888
C7H15Cl2N2O2P
CB 4564
CB-4564
CCRIS 188
CHEBI:4027
CHEMBL32520
CHEMBL88
CID2907
CP
CPA
CTX
CY
Ciclofosfamida
Ciclofosfamida [INN-Spanish]
Ciclofosfamide
Ciclophosphamide
Ciclophosphamide [INN]
Clafen
Claphene
Cycloblastin
Cyclophosphamid
Cyclophosphamide
Cyclophosphamide (INN)
Cyclophosphamide (TN)
Cyclophosphamide (anhydrous form)
Cyclophosphamide (anhydrous)
Cyclophosphamide Monohydrate
Cyclophosphamide Sterile
Cyclophosphamide anhydrous
Cyclophosphamide, (+-)-Isomer
Cyclophosphamides
Cyclophosphamidum
Cyclophosphamidum [INN-Latin]
Cyclophosphan
Cyclophosphane
Cyclophosphanum
Cyclophosphoramide
Cyclostin
Cyklofosfamid
Cyklofosfamid [Czech]
Cytophosphan
Cytophosphane
Cytoxan
Cytoxan (TN)
Cytoxan Lyoph
D,L-Cyclophosphamide
D07760
 
DB00531
DivK1c_000246
EINECS 200-015-4
EU-0100238
Endoxan
Endoxan R
Endoxan-Asta
Endoxana
Endoxanal
Endoxane
Enduxan
Genoxal
HMS2090A12
HSDB 3047
Hexadrin
IDI1_000246
KBio1_000246
KBio2_001338
KBio2_003906
KBio2_006474
KBio3_001319
KBioGR_000888
KBioSS_001338
LS-1302
LS-99787
Ledoxina
Lopac-C-0768
Lopac0_000238
Lyophilized Cytoxan
Mitoxan
MolPort-001-783-420
N,N-Bis(2-chloroethyl)-1,3,2-oxazaphosphinan-2-amine 2-oxide
N,N-Bis(2-chloroethyl)tetrahydro-2H-1,3,2-oxazaphosphorin-2-amine 2-oxide
NCGC00015209-01
NCGC00015209-03
NCGC00015209-06
NCGC00091741-02
NCGC00091741-03
NCI-C04900
NCI60_002097
NINDS_000246
NSC 26271
NSC-26271
NSC26271
NSC273033
NSC273034
Neosar
Occupation, cyclophosphamide exposure
Procytox
RCRA waste no. U058
Rcra Waste Number U058
Rcra waste number U058
Revimmune
S1217_Selleck
SK 20501
SPBio_001071
STK177249
STOCK2S-91217
Semdoxan
Sendoxan
Senduxan
Spectrum2_001146
Spectrum3_000370
Spectrum4_000304
Spectrum5_000795
Spectrum_000858
UNII-6UXW23996M
WLN: T6MPOTJ BO BN2G2G
Zyklophosphamid
Zyklophosphamid [German]
bis(2-Chloroethyl)phosphami de cyclic propanolamide
bis(2-Chloroethyl)phosphamide cyclic propanolamide ester
cyclophosphamide
3
BusulfanPhase 153255-98-12478
Synonyms:
1, 4-Dimethanesulfonoxybutane
1, 4-Dimethylsulfonoxybutane
1, {4-Bis[methanesulfonoxy]butane}
1,4-BUTANEDIOL DIMETHANESULFONATE
1,4-Bis(methanesulfonoxy)butane
1,4-Bis(methanesulfonyloxy)butane
1,4-Bis[methanesulfonoxy]butane
1,4-Butanedi yl dimethanesulfonate
1,4-Butanediol dimethanesulfonate
1,4-Butanediol dimethanesulphonate
1,4-Butanediol dimethylsulfonate
1,4-Butanediol, dimethanesulfonate
1,4-Butanediol, dimethanesulphonate
1,4-Butanediyl dimethanesulfonate
1,4-Di(methylsulfonoxy)butane
1,4-Dimesyloxybutane
1,4-Dimethane sulfonyl oxybutane
1,4-Dimethanesulfonoxybutane
1,4-Dimethanesulfonoxylbutane
1,4-Dimethanesulfonyloxybutane
1,4-Dimethanesulphonyloxybutane
1,4-Dimethylsulfonoxybutane
1,4-Dimethylsulfonyloxybutane
2041 C. B
2041 C. B.
2041 C.B
2041 C.B.
4-((Methylsulfonyl)oxy)butyl methanesulfonate
4-methylsulfonyloxybutyl methanesulfonate
55-98-1
AC-198
AC1L1DRQ
AC1Q4GRQ
AI3-25012
AKOS003614975
AN 33501
Ambap55-98-1
B1022
B2635_FLUKA
B2635_SIGMA
BRN 1791786
BSPBio_001920
BUSULFAN (1,4-BUTANEDIOL, DIMETHANESULFONATE)
Bisulfex
Busilvex
Busulfan
Busulfan (JP15/USP/INN)
Busulfan GlaxoSmithKline Brand
Busulfan Orphan Brand
Busulfan Wellcome
Busulfan Wellcome Brand
Busulfan [INN:JAN]
Busulfano
Busulfano [INN-Spanish]
Busulfanum
Busulfanum [INN-Latin]
Busulfex
Busulphan
Busulphane
Butanedioldimethanesulfonate
Buzulfan
C.B. 2041
C6H14O6S2
CB 2041
CCRIS 418
CHEBI:28901
CHEMBL820
CID2478
CPD000058613
Citosulfan
D002066
D00248
DB01008
DivK1c_000847
EINECS 200-250-2
FT-0083567
G.T. 41
GT 2041
GT 41
Glaxo Wellcome Brand of Busulfan
GlaxoSmithKline Brand of Busulfan
Glyzophrol
HMS1920I07
HMS2091O09
HMS502K09
 
HSDB 7605
I09-1371
IDI1_000847
InChI=1/C6H14O6S2/c1-13(7,8)11-5-3-4-6-12-14(2,9)10/h3-6H2,1-2H3
KBio1_000847
KBio2_000512
KBio2_003080
KBio2_005648
KBio3_001420
KBioGR_000698
KBioSS_000512
LS-1358
Leucosulfan
MLS001076666
MYLERAN (TN)
Mablin
Methanesulfonic
Methanesulfonic acid, tetram ethylene ester
Methanesulfonic acid, tetramethylene ester
Mielevcin
Mielosan
Mielucin
Milecitan
Mileran
Misulban
Mitosan
Mitostan
MolPort-001-783-406
Myeleukon
Myeloleukon
Myelosan
Myelosanum
Mylecytan
Myleran
Myleran Tablets
Myleran tablets
Myleran, Busulfex, Busulfan
Mylerlan
NCGC00090905-01
NCGC00090905-02
NCGC00090905-03
NCGC00090905-04
NCGC00090905-05
NCGC00090905-06
NCGC00090905-07
NCI-C01592
NCI60_041640
NCIMech_000192
NINDS_000847
NSC 750
NSC-750
NSC-750sulphabutin
NSC750
Orphan Brand of Busulfan
Prestwick_989
S1692_Selleck
SAM002554887
SMR000058613
SPBio_000253
SPECTRUM1500152
ST50825921
Spectrum2_000067
Spectrum3_000320
Spectrum4_000259
Spectrum5_000928
Spectrum_000092
Sulfabutin
Sulfabutin (VAN)
Sulphabutin
Tetramethylene Dimethane Sulfonate
Tetramethylene bis(methanesulfonate)
Tetramethylene bis[methanesulfonate]
Tetramethylene dimethane sulfonate
Tetramethylene {bis[methanesulfonate]}
Tetramethylenester Kyseliny Methansulfonove
Tetramethylenester kyseliny methansulfonove
Tetramethylenester kyseliny methansulfonove [Czech]
UNII-G1LN9045DK
WLN: WS1&O4OSW1
Wellcome Brand of Busulfan
Wellcome, Busulfan
X 149
acid, tetramethylene ester
alkylating agent: crosslinks guanine residues
busulfan
butane-1,4-diyl dimethanesulfonate
n-Butane-1,3-di(methylsulfonate)
4Alkylating AgentsPhase 14573

Interventional clinical trials:

idNameStatusNCT IDPhase
1Repeated Infusions of Mesenchymal Stromal Cells in Children With Osteogenesis ImperfectaCompletedNCT01061099Phase 1
2Treatment of Severe Osteogenesis Imperfecta by Allogeneic Bone Marrow TransplantationCompletedNCT00705120Phase 1
3Evaluation and Intervention for the Effects of Osteogenesis ImperfectaRecruitingNCT00001594

Search NIH Clinical Center for Osteogenesis Imperfecta, Type Ii

Genetic Tests for Osteogenesis Imperfecta, Type Ii

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Anatomical Context for Osteogenesis Imperfecta, Type Ii

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MalaCards organs/tissues related to Osteogenesis Imperfecta, Type Ii:

34
Bone, Skin, Heart, Bone marrow

Animal Models for Osteogenesis Imperfecta, Type Ii or affiliated genes

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MGI Mouse Phenotypes related to Osteogenesis Imperfecta, Type Ii:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.5CD36, COL1A1, COL1A2, P3H1
2MP:00107718.4COL1A1, COL1A2, FGFR3, P3H1, PPIB
3MP:00053758.4CD36, COL1A1, COL1A2, P3H1
4MP:00053717.7COL1A1, COL1A2, FGFR3, P3H1, PPIB
5MP:00053906.7CD36, COL1A1, COL1A2, CRTAP, FGFR3, P3H1
6MP:00053786.6CD36, COL1A1, COL1A2, CRTAP, FGFR3, P3H1

Publications for Osteogenesis Imperfecta, Type Ii

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Articles related to Osteogenesis Imperfecta, Type Ii:

(show all 16)
idTitleAuthorsYear
1
Identification of a COL1A2 mutation with a deletion spanning coding and intronic sequence in exon 19 and intron 19 in a fetus with osteogenesis imperfecta type II. (22795120)
2012
2
A case of osteogenesis imperfecta type II caused by a novel COL1A2 gene mutation: endoscopic third ventriculostomy to prevent hydrocephalus. (22911485)
2012
3
Prenatal diagnosis of osteogenesis imperfecta type II by three-dimensional computed tomography: the current state of fetal computed tomography. (23181495)
2012
4
Identification of a deletion mutation in the short flanking repeat region of exon 44 of the COL1A1 gene in a fetus with osteogenesis imperfecta type II. (22795119)
2012
5
Osteogenesis imperfecta type II: prenatal diagnosis and association with increased nuchal translucency and hypoechogenicity of the cranium. (22795121)
2012
6
Prenatal diagnosis of osteogenesis imperfecta type II by three-dimensional ultrasound and computed tomography. (21450031)
2011
7
The prevalence of thanatophoric dysplasia and lethal osteogenesis imperfecta type II in Northern Ireland - a complete population study. (22375084)
2010
8
Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships. (18996919)
2009
9
Osteogenesis imperfecta type II: fetal magnetic resonance imaging findings. (18931501)
2008
10
A case of chondrodysplasia punctata with features of osteogenesis imperfecta type II. (11400945)
2001
11
Abnormalities in central nervous system development in osteogenesis imperfecta type II. (9949218)
1999
12
Caudal block in a child with osteogenesis imperfecta, type II. (7489444)
1995
13
Osteogenesis imperfecta type II: microvascular changes in the CNS. (7671457)
1995
14
SSCP detection of a Gly565Val substitution in the pro alpha 1(I) collagen chain resulting in osteogenesis imperfecta type II. (8100209)
1993
15
First-trimester prenatal diagnosis of osteogenesis imperfecta type II by DNA analysis and sonography. (8415424)
1993
16
Midtrimester diagnosis of osteogenesis imperfecta, type II. (7126785)
1982

Variations for Osteogenesis Imperfecta, Type Ii

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UniProtKB/Swiss-Prot genetic disease variations for Osteogenesis Imperfecta, Type Ii:

68 (show all 121)
id Symbol AA change Variation ID SNP ID
1COL1A1p.Gly275AspVAR_001649
2COL1A1p.Gly389ArgVAR_001656
3COL1A1p.Gly398AspVAR_001658
4COL1A1p.Gly422CysVAR_001661
5COL1A1p.Gly425SerVAR_001662
6COL1A1p.Gly434ValVAR_001663
7COL1A1p.Gly476ArgVAR_001664rs57377812
8COL1A1p.Gly530SerVAR_001666
9COL1A1p.Gly533AspVAR_001667
10COL1A1p.Gly560ArgVAR_001670
11COL1A1p.Gly569ArgVAR_001672
12COL1A1p.Gly593SerVAR_001674
13COL1A1p.Gly656SerVAR_001676
14COL1A1p.Gly719AspVAR_001679
15COL1A1p.Gly728ArgVAR_001681
16COL1A1p.Gly737AspVAR_001682
17COL1A1p.Gly743SerVAR_001683
18COL1A1p.Gly743ValVAR_001684
19COL1A1p.Gly764ValVAR_001685
20COL1A1p.Gly776SerVAR_001687
21COL1A1p.Gly809SerVAR_001688
22COL1A1p.Gly815ValVAR_001689
23COL1A1p.Gly839SerVAR_001692
24COL1A1p.Gly842ArgVAR_001693
25COL1A1p.Gly845ArgVAR_001694
26COL1A1p.Gly851AspVAR_001695
27COL1A1p.Gly869CysVAR_001696
28COL1A1p.Gly884SerVAR_001697
29COL1A1p.Gly896CysVAR_001698
30COL1A1p.Gly926CysVAR_001699
31COL1A1p.Gly980ValVAR_001700
32COL1A1p.Gly1022ValVAR_001703
33COL1A1p.Gly1025ArgVAR_001704
34COL1A1p.Gly1040SerVAR_001705
35COL1A1p.Gly1043SerVAR_001706
36COL1A1p.Gly1061AspVAR_001710
37COL1A1p.Gly1079SerVAR_001714
38COL1A1p.Gly1082CysVAR_001715
39COL1A1p.Gly1088AlaVAR_001716
40COL1A1p.Gly1091SerVAR_001717
41COL1A1p.Gly1100AspVAR_001718
42COL1A1p.Gly1106AlaVAR_001719
43COL1A1p.Gly1124CysVAR_001720
44COL1A1p.Gly1142SerVAR_001721
45COL1A1p.Gly1151ValVAR_001723
46COL1A1p.Gly1154ArgVAR_001724
47COL1A1p.Gly1166CysVAR_001725
48COL1A1p.Gly1172AspVAR_001726
49COL1A1p.Gly1181SerVAR_001727
50COL1A1p.Gly1184ValVAR_001728
51COL1A1p.Gly1187SerVAR_001729
52COL1A1p.Gly1187ValVAR_001730
53COL1A1p.Asp1277HisVAR_001732
54COL1A1p.Trp1312CysVAR_001733
55COL1A1p.Leu1388ArgVAR_001735
56COL1A1p.Gly866SerVAR_008118
57COL1A1p.Gly22ArgVAR_063290
58COL1A1p.Gly353AspVAR_063305
59COL1A1p.Gly368ValVAR_063307
60COL1A1p.Gly455AspVAR_063309
61COL1A1p.Gly470ValVAR_063310
62COL1A1p.Gly509ValVAR_063311
63COL1A1p.Gly548AlaVAR_063312
64COL1A1p.Gly581ArgVAR_063315
65COL1A1p.Gly602ArgVAR_063316
66COL1A1p.Gly605AspVAR_063317
67COL1A1p.Gly614ArgVAR_063318
68COL1A1p.Gly734ValVAR_063322
69COL1A1p.Gly740ArgVAR_063323
70COL1A1p.Gly824ArgVAR_063324
71COL1A1p.Gly833AspVAR_063325
72COL1A1p.Gly875SerVAR_063327
73COL1A1p.Gly896AspVAR_063328
74COL1A1p.Gly947CysVAR_063330
75COL1A1p.Gly977AspVAR_063331
76COL1A1p.Gly1001CysVAR_063332
77COL1A1p.Gly1055AspVAR_063334
78COL1A1p.Gly1094SerVAR_063337
79COL1A1p.Asp1413AsnVAR_063341
80COL1A1p.Gly848ArgVAR_063342
81COL1A1p.Gly773CysVAR_074158
82COL1A2p.Gly334CysVAR_001856
83COL1A2p.Gly409ValVAR_001861
84COL1A2p.Gly433GluVAR_001862
85COL1A2p.Gly511AspVAR_001864
86COL1A2p.Gly547ArgVAR_001866
87COL1A2p.Gly562CysVAR_001868
88COL1A2p.Gly586ArgVAR_001869
89COL1A2p.Gly592SerVAR_001870
90COL1A2p.Gly637AspVAR_001872
91COL1A2p.Gly640SerVAR_001873
92COL1A2p.Gly670AspVAR_001874
93COL1A2p.Gly715AspVAR_001877
94COL1A2p.Gly730CysVAR_001878
95COL1A2p.Gly754ArgVAR_001882
96COL1A2p.Gly784ArgVAR_001885
97COL1A2p.Gly787CysVAR_001886
98COL1A2p.Gly790AspVAR_001887
99COL1A2p.Gly796SerVAR_001888
100COL1A2p.Gly877CysVAR_001891
101COL1A2p.Gly895AspVAR_001893
102COL1A2p.Gly955SerVAR_001895
103COL1A2p.Gly997AspVAR_001896
104COL1A2p.Gly1066AspVAR_001899
105COL1A2p.Gly1078CysVAR_001900
106COL1A2p.Arg234CysVAR_063345
107COL1A2p.Gly253AspVAR_063347
108COL1A2p.Gly283ArgVAR_063349
109COL1A2p.Gly397GluVAR_063353
110COL1A2p.Gly454CysVAR_063354rs72658117
111COL1A2p.Gly457LeuVAR_063355
112COL1A2p.Gly526GluVAR_063357
113COL1A2p.Gly562ValVAR_063358
114COL1A2p.Gly625AspVAR_063360rs72658145
115COL1A2p.Gly739ArgVAR_063364
116COL1A2p.Gly748ValVAR_063365
117COL1A2p.Gly856ValVAR_063373
118COL1A2p.Gly955AspVAR_063374
119COL1A2p.Gly982AspVAR_063375
120COL1A2p.Gly1003AspVAR_063378
121COL1A2p.Gly1027GluVAR_063379

Clinvar genetic disease variations for Osteogenesis Imperfecta, Type Ii:

5 (show all 47)
id Gene Variation Type Significance SNP ID Assembly Location
1COL1A2NC_000007.14: g.94418886_94423301del4416deletionPathogenicrs74315138GRCh37Chr 7, 94048198: 94052613
2COL1A2NM_000089.3(COL1A2): c.2720G> A (p.Gly907Asp)single nucleotide variantPathogenicrs121912900GRCh37Chr 7, 94054475: 94054475
3COL1A2COL1A2, EX33DELdeletionPathogenic
4COL1A2NM_000089.3(COL1A2): c.1640G> A (p.Gly547Asp)single nucleotide variantPathogenicrs121912901GRCh37Chr 7, 94043234: 94043234
5COL1A2NM_000089.3(COL1A2): c.2593G> A (p.Gly865Ser)single nucleotide variantPathogenicrs121912902GRCh37Chr 7, 94053675: 94053675
6COL1A2COL1A2, GLY976ASPundetermined variantPathogenic
7COL1A2NM_000089.3(COL1A2): c.2414G> A (p.Gly805Asp)single nucleotide variantPathogenicrs121912904GRCh37Chr 7, 94052279: 94052279
8COL1A2COL1A2, EX28DELdeletionPathogenic
9COL1A2NM_000089.3(COL1A2): c.1414G> T (p.Gly472Cys)single nucleotide variantPathogenicrs121912906GRCh37Chr 7, 94041905: 94041905
10COL1A2COL1A2, IVS33DS, G-A, +5single nucleotide variantPathogenic
11COL1A2NM_000089.3(COL1A2): c.2080G> C (p.Gly694Arg)single nucleotide variantPathogenicrs121912908GRCh37Chr 7, 94049545: 94049545
12COL1A2NM_000089.3(COL1A2): c.1739G> A (p.Gly580Asp)single nucleotide variantPathogenicrs121912909GRCh37Chr 7, 94044557: 94044557
13COL1A2NM_000089.3(COL1A2): c.1504G> A (p.Gly502Ser)single nucleotide variantPathogenicrs121912910GRCh37Chr 7, 94042395: 94042395
14COL1A2NM_000089.3(COL1A2): c.1262G> A (p.Gly421Asp)single nucleotide variantPathogenicrs267606741GRCh37Chr 7, 94040378: 94040378
15COL1A1NM_000088.3(COL1A1): c.824G> A (p.Gly275Asp)single nucleotide variantPathogenicrs72645333GRCh37Chr 17, 48274012: 48274012
16COL1A1NM_000088.3(COL1A1): c.1705G> C (p.Gly569Arg)single nucleotide variantPathogenicrs72648363GRCh37Chr 17, 48271366: 48271366
17COL1A1NM_000088.3(COL1A1): c.2210G> A (p.Gly737Asp)single nucleotide variantPathogenicrs72651651GRCh37Chr 17, 48268769: 48268769
18COL1A1NM_000088.3(COL1A1): c.2552G> A (p.Gly851Asp)single nucleotide variantPathogenicrs72653137GRCh37Chr 17, 48267369: 48267369
19COL1A1NM_000088.3(COL1A1): c.2533G> A (p.Gly845Arg)single nucleotide variantPathogenicrs72653136GRCh37Chr 17, 48267388: 48267388
20COL1A1NM_000088.3(COL1A1): c.2605G> T (p.Gly869Cys)single nucleotide variantPathogenicrs72653143GRCh37Chr 17, 48267228: 48267228
21COL1A1NM_000088.3(COL1A1): c.2686G> T (p.Gly896Cys)single nucleotide variantPathogenicrs72653152GRCh37Chr 17, 48266881: 48266881
22COL1A1NM_000088.3(COL1A1): c.2776G> T (p.Gly926Cys)single nucleotide variantPathogenicrs72653154GRCh37Chr 17, 48266791: 48266791
23COL1A1NM_000088.3(COL1A1): c.3073G> A (p.Gly1025Arg)single nucleotide variantPathogenicrs72653172GRCh37Chr 17, 48266129: 48266129
24COL1A1NM_000088.3(COL1A1): c.3182G> A (p.Gly1061Asp)single nucleotide variantPathogenicrs72654797GRCh37Chr 17, 48265916: 48265916
25COL1A1NM_000088.3(COL1A1): c.3244G> T (p.Gly1082Cys)single nucleotide variantPathogenicrs72656303GRCh37Chr 17, 48265474: 48265474
26COL1A1NM_000088.3(COL1A1): c.3271G> A (p.Gly1091Ser)single nucleotide variantPathogenicrs72656306GRCh37Chr 17, 48265335: 48265335
27COL1A1NM_000088.3(COL1A1): c.3496G> T (p.Gly1166Cys)single nucleotide variantPathogenicrs72656324GRCh37Chr 17, 48264411: 48264411
28COL1A1NM_000088.3(COL1A1): c.3559G> A (p.Gly1187Ser)single nucleotide variantPathogenicrs72656332GRCh37Chr 17, 48264256: 48264256
29COL1A1COL1A1, 9-BP DELdeletionPathogenic
30COL1A1COL1A1, 1-BP INS, 4088TinsertionPathogenic
31COL1A1NM_000088.3(COL1A1): c.2156G> A (p.Gly719Asp)single nucleotide variantPathogenicrs72651646GRCh37Chr 17, 48268823: 48268823
32COL1A1NM_000088.3(COL1A1): c.3541G> A (p.Gly1181Ser)single nucleotide variantPathogenicrs72656330GRCh37Chr 17, 48264274: 48264274
33COL1A1NM_000088.3(COL1A1): c.2444G> T (p.Gly815Val)single nucleotide variantPathogenicrs66929517GRCh37Chr 17, 48267695: 48267695
34COL1A1NM_000088.3(COL1A1): c.3452G> T (p.Gly1151Val)single nucleotide variantPathogenicrs72656321GRCh37Chr 17, 48264455: 48264455
35COL1A1NM_000088.3(COL1A1): c.1301G> T (p.Gly434Val)single nucleotide variantPathogenicrs72648333GRCh37Chr 17, 48272460: 48272460
36COL1A1COL1A1, IVS14DS, G-A, +5single nucleotide variantPathogenic
37COL1A1NM_000088.3(COL1A1): c.2939G> T (p.Gly980Val)single nucleotide variantPathogenicrs72653166GRCh37Chr 17, 48266370: 48266370
38COL1A1COL1A1, EX15-16DUPduplicationPathogenic
39COL1A1NM_000088.3(COL1A1): c.1777G> A (p.Gly593Ser)single nucleotide variantPathogenicrs66527965GRCh37Chr 17, 48270399: 48270399
40COL1A1NM_000088.3(COL1A1): c.2228G> T (p.Gly743Val)single nucleotide variantPathogenicrs72651653GRCh37Chr 17, 48268751: 48268751
41COL1A1NM_000088.3(COL1A1): c.1598G> A (p.Gly533Asp)single nucleotide variantPathogenicrs72648356GRCh37Chr 17, 48271726: 48271726
42COL1A1NM_000088.3(COL1A1): c.2291G> T (p.Gly764Val)single nucleotide variantPathogenicrs72651657GRCh37Chr 17, 48268230: 48268230
43COL1A1COL1A1, 9-BP DUPduplicationPathogenic
44COL1A2NM_000089.3(COL1A2): c.3034G> A (p.Gly1012Ser)single nucleotide variantLikely pathogenicrs72659319GRCh38Chr 7, 94426459: 94426459
45COL1A2NM_000089.3(COL1A2): c.2957C> T (p.Pro986Leu)single nucleotide variantLikely pathogenicrs768171831GRCh38Chr 7, 94426011: 94426011
46COL1A1NM_000088.3(COL1A1): c.4247delC (p.Thr1416Argfs)deletionPathogenicrs398122835GRCh37Chr 17, 48263140: 48263140
47COL1A1NM_000088.3(COL1A1): c.4160C> T (p.Ala1387Val)single nucleotide variantPathogenicrs397514672GRCh37Chr 17, 48263227: 48263227

Expression for genes affiliated with Osteogenesis Imperfecta, Type Ii

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Search GEO for disease gene expression data for Osteogenesis Imperfecta, Type Ii.

Pathways for genes affiliated with Osteogenesis Imperfecta, Type Ii

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Pathways related to Osteogenesis Imperfecta, Type Ii according to GeneCards Suite gene sharing:

(show all 13)
idSuper pathwaysScoreTop Affiliating Genes
19.7COL1A1, COL1A2
29.7COL1A1, COL1A2
39.7COL1A1, COL1A2
49.7COL1A1, COL1A2
59.7COL1A1, COL1A2
69.7COL1A1, COL1A2
79.7COL1A1, COL1A2
89.2COL1A1, COL1A2, FGFR3
98.9CD36, COL1A1, COL1A2
10
Show member pathways
8.9CD36, COL1A1, COL1A2
11
Show member pathways
8.9CD36, COL1A1, COL1A2
12
Show member pathways
8.1COL1A1, COL1A2, CRTAP, P3H1, PPIB
13
Show member pathways
8.1COL1A1, COL1A2, CRTAP, P3H1, PPIB

GO Terms for genes affiliated with Osteogenesis Imperfecta, Type Ii

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Cellular components related to Osteogenesis Imperfecta, Type Ii according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1collagen type I trimerGO:000558410.3COL1A1, COL1A2
2collagen trimerGO:000558110.2COL1A1, COL1A2
3macromolecular complexGO:00329919.5CRTAP, P3H1, PPIB
4proteinaceous extracellular matrixGO:00055789.4COL1A1, CRTAP, P3H1
5extracellular spaceGO:00056158.4CD36, COL1A1, COL1A2, CRTAP
6endoplasmic reticulum lumenGO:00057888.3COL1A1, COL1A2, CRTAP, P3H1, PPIB
7endoplasmic reticulumGO:00057837.7COL1A1, CRTAP, FGFR3, P3H1, PPIB

Biological processes related to Osteogenesis Imperfecta, Type Ii according to GeneCards Suite gene sharing:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1skin morphogenesisGO:004358910.2COL1A1, COL1A2
2protein heterotrimerizationGO:007020810.2COL1A1, COL1A2
3collagen catabolic processGO:003057410.1COL1A1, COL1A2
4blood vessel developmentGO:000156810.0COL1A1, COL1A2
5negative regulation of post-translational protein modificationGO:190187410.0CRTAP, P3H1
6bone developmentGO:00603489.9P3H1, PPIB
7collagen fibril organizationGO:00301999.9COL1A1, COL1A2
8endochondral ossificationGO:00019589.8COL1A1, FGFR3
9cellular response to amino acid stimulusGO:00712309.8COL1A1, COL1A2
10positive regulation of MAPK cascadeGO:00434109.4CD36, FGFR3
11skeletal system developmentGO:00015019.3COL1A1, COL1A2, FGFR3
12chaperone-mediated protein foldingGO:00610779.1CRTAP, P3H1, PPIB
13protein stabilizationGO:00508218.9CRTAP, P3H1, PPIB
14blood coagulationGO:00075968.9CD36, COL1A1, COL1A2

Molecular functions related to Osteogenesis Imperfecta, Type Ii according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1platelet-derived growth factor bindingGO:004840710.1COL1A1, COL1A2
2extracellular matrix structural constituentGO:000520110.0COL1A1, COL1A2
3collagen bindingGO:00055189.5P3H1, PPIB
4protein complex bindingGO:00324038.9CRTAP, P3H1, PPIB

Sources for Osteogenesis Imperfecta, Type Ii

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet