MCID: OST080
MIFTS: 50

Osteogenesis Imperfecta, Type Ii malady

Genetic diseases, Bone diseases, Fetal diseases, Rare diseases, Oral diseases categories

Aliases & Classifications for Osteogenesis Imperfecta, Type Ii

About this section
Sources:
49OMIM, 47Novoseek, 11diseasecard, 67UniProtKB/Swiss-Prot, 51Orphanet, 65UMLS, 28ICD10 via Orphanet, 34MedGen, 36MeSH
See all sources

Aliases & Descriptions for Osteogenesis Imperfecta, Type Ii:

Name: Osteogenesis Imperfecta, Type Ii 49 47
Osteogenesis Imperfecta Congenita Perinatal Lethal Form 67
Osteogenesis Imperfecta, Dominant Perinatal Lethal 65
Osteogenesis Imperfecta Type Ii Autosomal Dominant 67
Vrolik Type of Osteogenesis Imperfecta 67
Osteogenesis Imperfecta Congenita 67
Osteogenesis Imperfecta Type Iia 67
Osteogenesis Imperfecta Type 2 51
Lethal Osteogenesis Imperfecta 51
 
Osteogenesis Imperfecta 2 67
Oi Type Iia 67
Oi Type Ii 11
Oi Type 2 51
Oi-Iia 67
Oi-Ii 67
Oic 67
Oi2 67


Classifications:



Characteristics (Orphanet epidemiological data):

51
osteogenesis imperfecta type 2:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal; Age of death: early childhood


External Ids:

OMIM49 166210
Orphanet51 216804
ICD10 via Orphanet28 Q78.0
MeSH36 D010013

Summaries for Osteogenesis Imperfecta, Type Ii

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UniProtKB/Swiss-Prot:67 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 constipation, and has symptoms including autosomal dominant inheritance, large fontanelles and convex nasal ridge. An important gene associated with Osteogenesis Imperfecta, Type Ii is COL1A1 (Collagen, Type I, Alpha 1), and among its related pathways are Cell adhesion_Endothelial cell contacts by non-junctional mechanisms and VEGFR3 signaling in lymphatic endothelium. Affiliated tissues include bone, skin and heart, and related mouse phenotypes are limbs/digits/tail and integument.

OMIM:49 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 Osteogenesis Imperfecta Type 1a
Osteogenesis Imperfecta Type 2a Osteogenesis Imperfecta Type 2b
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
Wnt1-Related Osteogenesis Imperfecta Sparc-Related Osteogenesis Imperfecta

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

(show top 50)    (show all 65)
idRelated DiseaseScoreTop Affiliating Genes
1osteogenesis imperfecta, type vii30.6CD36, CRTAP
2constipation29.7COL1A1, COL1A2, COL5A1, FGFR3, P3H1, PPIB
3osteogenesis imperfecta, type iv29.2CD36, COL1A1, COL1A2, COL5A1, CRTAP, PPIB
4osteogenesis imperfecta10.9
5osteogenesis imperfecta congenita microcephaly and cataracts10.5
6chronic pain10.4
7perinatally lethal osteogenesis imperfecta10.3
8hydrocephalus10.3
9chondrodysplasia punctata10.3
10insulin-like growth factor i10.3
11hypophosphatasia10.3
12cutis laxa10.3
13pain disorder10.3
14movement disease10.3
15back pain10.3
16osteogenesis imperfecta type 2a10.2
17osteolysis syndrome recessive10.2COL1A1, COL1A2
18classic rett syndrome10.2COL1A1, COL1A2
19congenital trigeminal anesthesia10.2COL1A1, COL1A2
20spastic diplegia10.2
21idiopathic linear interstitial keratitis10.2COL1A1, COL1A2
22col4a1-related disorders10.2COL1A1, COL1A2
23osteogenesis imperfecta, type viii10.2
24osteogenesis imperfecta, type xiii10.2
25osteogenesis imperfecta, type xiv10.2
26osteogenesis imperfecta, type v10.2
27osteogenesis imperfecta, type xv10.2
28eif4g1-related parkinson disease10.2COL1A1, COL1A2
29larsen-like syndrome10.2COL1A1, COL1A2
30splenic flexure cancer10.1COL1A1, COL1A2
31anterior cruciate ligament tears10.1COL1A1, COL1A2
32sclerosing hemangioma10.1COL1A1, COL1A2
33wilms tumor susceptibility-510.0
34wilms tumor 210.0
35diarrhea 610.0
36cervical wilms' tumor10.0
37diarrhea10.0
38intestinal benign neoplasm10.0
39intestinal disease10.0
40opiate dependence10.0
41withdrawal disorder10.0
42synovial chondromatosis, familial with dwarfism10.0COL1A1, FGFR3
43depressed scar10.0COL1A1, COL1A2, CRTAP
44pervasive developmental disorder not otherwise specified10.0CD36, COL1A1, COL1A2
45cogan-reese syndrome10.0CD36, COL1A1, COL1A2
46saethre-chotzen syndrome9.9COL1A2, FGFR3
47ectopia lentis, familial9.9CD36, COL1A2
48ehlers-danlos syndrome, type vi9.9COL1A1, COL5A1
49scrotal carcinoma9.9COL1A1, COL1A2, FGFR3
50oral mucosa leukoplakia9.9COL5A1, CRTAP

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 22)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 large fontanelles HP:0000239
3 convex nasal ridge HP:0000444
4 blue sclerae HP:0000592
5 beaded ribs HP:0000923
6 platyspondyly HP:0000926
7 thin skin HP:0000963
8 small for gestational age HP:0001518
9 premature birth HP:0001622
10 congestive heart failure HP:0001635
11 nonimmune hydrops fetalis HP:0001790
12 respiratory insufficiency HP:0002093
13 abnormality of pelvic girdle bone morphology HP:0002644
14 wormian bones HP:0002645
15 recurrent fractures HP:0002757
16 tibial bowing HP:0002982
17 broad long bones HP:0005622
18 absent ossification of calvaria HP:0005623
19 multiple prenatal fractures HP:0005855
20 crumpled long bones HP:0006367
21 disproportionate short-limb short stature HP:0008873
22 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
Busulfanapproved, investigationalPhase 148655-98-12478
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)
2
Cyclophosphamideapproved, investigationalPhase 1252550-18-0, 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
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
3CyclosporinsPhase 1849

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:

33
Bone, Skin, Heart

Animal Models for Osteogenesis Imperfecta, Type Ii or affiliated genes

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MGI Mouse Phenotypes related to Osteogenesis Imperfecta, Type Ii:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.9COL1A1, COL1A2, FGFR3, P3H1
2MP:00107717.7COL1A1, COL1A2, COL5A1, FGFR3, P3H1, PPIB
3MP:00053907.0CD36, COL1A1, COL1A2, CRTAP, FGFR3, P3H1
4MP:00053786.5CD36, 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 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
2
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
3
A case of osteogenesis imperfecta type II caused by a novel COL1A2 gene mutation: endoscopic third ventriculostomy to prevent hydrocephalus. (22911485)
2012
4
Prenatal diagnosis of osteogenesis imperfecta type II by three-dimensional computed tomography: the current state of fetal computed tomography. (23181495)
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
Osteogenesis imperfecta type II: microvascular changes in the CNS. (7671457)
1995
13
Caudal block in a child with osteogenesis imperfecta, type II. (7489444)
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:

67 (show all 120)
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
81COL1A2p.Gly334CysVAR_001856
82COL1A2p.Gly409ValVAR_001861
83COL1A2p.Gly433GluVAR_001862
84COL1A2p.Gly511AspVAR_001864
85COL1A2p.Gly547ArgVAR_001866
86COL1A2p.Gly562CysVAR_001868
87COL1A2p.Gly586ArgVAR_001869
88COL1A2p.Gly592SerVAR_001870
89COL1A2p.Gly637AspVAR_001872
90COL1A2p.Gly640SerVAR_001873
91COL1A2p.Gly670AspVAR_001874
92COL1A2p.Gly715AspVAR_001877
93COL1A2p.Gly730CysVAR_001878
94COL1A2p.Gly754ArgVAR_001882
95COL1A2p.Gly784ArgVAR_001885
96COL1A2p.Gly787CysVAR_001886
97COL1A2p.Gly790AspVAR_001887
98COL1A2p.Gly796SerVAR_001888
99COL1A2p.Gly877CysVAR_001891
100COL1A2p.Gly895AspVAR_001893
101COL1A2p.Gly955SerVAR_001895
102COL1A2p.Gly997AspVAR_001896
103COL1A2p.Gly1066AspVAR_001899
104COL1A2p.Gly1078CysVAR_001900
105COL1A2p.Arg234CysVAR_063345
106COL1A2p.Gly253AspVAR_063347
107COL1A2p.Gly283ArgVAR_063349
108COL1A2p.Gly397GluVAR_063353
109COL1A2p.Gly454CysVAR_063354
110COL1A2p.Gly457LeuVAR_063355
111COL1A2p.Gly526GluVAR_063357
112COL1A2p.Gly562ValVAR_063358
113COL1A2p.Gly625AspVAR_063360
114COL1A2p.Gly739ArgVAR_063364
115COL1A2p.Gly748ValVAR_063365
116COL1A2p.Gly856ValVAR_063373
117COL1A2p.Gly955AspVAR_063374
118COL1A2p.Gly982AspVAR_063375
119COL1A2p.Gly1003AspVAR_063378
120COL1A2p.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 pathogenicrs72659319GRCh37Chr 7, 94055771: 94055771
45COL1A2NM_000089.3(COL1A2): c.2957C> T (p.Pro986Leu)single nucleotide variantLikely pathogenicrs768171831GRCh37Chr 7, 94055323: 94055323
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 16)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8COL1A1, COL1A2
29.8COL1A1, COL1A2
39.8COL1A1, COL1A2
49.8COL1A1, COL1A2
59.8COL1A1, COL1A2
69.8COL1A1, COL1A2
79.3COL1A1, COL1A2, COL5A1
89.3COL1A1, COL1A2, COL5A1
99.3COL1A1, COL1A2, COL5A1
10
Show member pathways
8.9CD36, COL1A1, COL1A2
118.9CD36, COL1A1, COL1A2
12
Show member pathways
8.8COL1A1, COL1A2, COL5A1, FGFR3
138.8COL1A1, COL1A2, COL5A1, FGFR3
14
Show member pathways
8.5CD36, COL1A1, COL1A2, COL5A1
15
Show member pathways
7.7COL1A1, COL1A2, COL5A1, CRTAP, P3H1, PPIB
16
Show member pathways
7.7COL1A1, COL1A2, COL5A1, 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:000558410.4COL1A1, COL1A2
2macromolecular complexGO:00329919.4CRTAP, P3H1, PPIB
3extracellular matrixGO:00310129.3COL1A1, COL1A2, COL5A1
4collagen trimerGO:00055819.2COL1A1, COL1A2, COL5A1
5proteinaceous extracellular matrixGO:00055788.9COL1A1, COL5A1, CRTAP, P3H1
6endoplasmic reticulumGO:00057838.3COL1A1, CRTAP, FGFR3, P3H1, PPIB
7endoplasmic reticulum lumenGO:00057887.4COL1A1, COL1A2, COL5A1, CRTAP, P3H1, PPIB

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

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1skin morphogenesisGO:004358910.4COL1A1, COL1A2
2collagen biosynthetic processGO:003296410.3COL1A1, COL5A1
3protein heterotrimerizationGO:007020810.3COL1A1, COL1A2
4skin developmentGO:004358810.0COL1A1, COL5A1
5endochondral ossificationGO:000195810.0COL1A1, FGFR3
6negative regulation of post-translational protein modificationGO:190187410.0CRTAP, P3H1
7cellular response to amino acid stimulusGO:00712309.9COL1A1, COL1A2
8blood vessel developmentGO:00015689.7COL1A1, COL1A2, COL5A1
9bone developmentGO:00603489.7P3H1, PPIB
10extracellular matrix disassemblyGO:00226179.6COL1A1, COL1A2, COL5A1
11skeletal system developmentGO:00015019.6COL1A1, COL1A2, FGFR3
12collagen catabolic processGO:00305749.5COL1A1, COL1A2, COL5A1
13chaperone-mediated protein foldingGO:00610779.4CRTAP, P3H1, PPIB
14protein stabilizationGO:00508219.3CRTAP, P3H1, PPIB
15receptor-mediated endocytosisGO:00068989.2CD36, COL1A1, COL1A2
16collagen fibril organizationGO:00301999.1COL1A1, COL1A2, COL5A1, P3H1
17platelet activationGO:00301688.6CD36, COL1A1, COL1A2
18extracellular matrix organizationGO:00301987.7COL1A1, COL1A2, COL5A1, CRTAP, P3H1, PPIB

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

idNameGO IDScoreTop Affiliating Genes
1collagen bindingGO:00055189.5P3H1, PPIB
2platelet-derived growth factor bindingGO:00484079.3COL1A1, COL1A2, COL5A1
3protein complex bindingGO:00324039.1CRTAP, P3H1, PPIB
4extracellular matrix structural constituentGO:00052019.0COL1A1, COL1A2, COL5A1

Sources for Osteogenesis Imperfecta, Type Ii

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet