MCID: OST080
MIFTS: 49

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 49 47
Osteogenesis Imperfecta Congenita Perinatal Lethal Form 45 67
Vrolik Type of Osteogenesis Imperfecta 45 67
Osteogenesis Imperfecta Congenita 45 67
Lethal Osteogenesis Imperfecta 45 51
Osteogenesis Imperfecta Type 2 45 51
Oi Type 2 45 51
Osteogenesis Imperfecta, Dominant Perinatal Lethal 65
Osteogenesis Imperfecta Type Ii Autosomal Dominant 67
Osteogenesis Imperfecta Type Iia 67
 
Osteogenesis Imperfecta Type Ii 45
Osteogenesis Imperfecta 2 67
Perinatally Lethal Oi 45
Oi, Type Ii 67
Oi Type Iia 67
Oi Type Ii 11
Oi-Iia 67
Oi-Ii 67
Oi2 67
Oic 67

Characteristics:

Orphanet epidemiological data:

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

HPO:

61
osteogenesis imperfecta, type ii:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 166210
Orphanet51 216804
ICD10 via Orphanet28 Q78.0
MeSH36 D010013
UMLS65 C0268358

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 osteogenesis imperfecta, type iv, and has symptoms including pulmonary insufficiency, disproportionate short-limb short stature and crumpled long bones. An important gene associated with Osteogenesis Imperfecta, Type Ii is COL1A1 (Collagen Type I Alpha 1), and among its related pathways are IL4-mediated signaling events and Cell adhesion_ECM remodeling. Affiliated tissues include bone, skin and heart, and related mouse phenotypes are adipose tissue and muscle.

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 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 top 50)    (show all 51)
idRelated DiseaseScoreTop Affiliating Genes
1osteogenesis imperfecta, type vii32.5CD36, CRTAP
2osteogenesis imperfecta, type iv30.9COL1A1, COL1A2
3perinatally lethal osteogenesis imperfecta11.4
4osteogenesis imperfecta, type viii10.4
5osteogenesis imperfecta, type xiii10.4
6osteogenesis imperfecta, type xiv10.4
7osteogenesis imperfecta, type v10.4
8osteogenesis imperfecta, type xv10.4
9hepatitis10.3
10sarcoma10.3
11congenital trigeminal anesthesia10.2COL1A1, COL1A2
12col4a1-related disorders10.2COL1A1, COL1A2
13idiopathic linear interstitial keratitis10.2COL1A1, COL1A2
14eif4g1-related parkinson disease10.2COL1A1, COL1A2
15autosomal dominant microcephaly10.2COL1A1, COL1A2
16breast cancer10.2
17nail-patella syndrome10.2
18ewing sarcoma10.2
19alcoholic hepatitis10.2
20anaplastic large cell lymphoma10.2
21lymphoma10.2
22myeloma10.2
23tetanus10.2
24intestinal obstruction10.2
25influenza10.2
26myeloid sarcoma10.2
27haemophilus influenzae10.2
28mallory-weiss syndrome10.2
29endotheliitis10.2
30alk-negative anaplastic large cell lymphoma10.2
31mental retardation, autosomal recessive 3510.2COL1A1, COL1A2
32anterior cruciate ligament tears10.1COL1A1, COL1A2
33dicrocoeliasis10.1COL1A1, COL1A2
34sezary's disease10.1COL1A1, COL1A2
35depressed scar10.0COL1A1, COL1A2, CRTAP
36caffey disease9.9CD36, COL1A1, COL1A2
37lymph node adenoid cystic carcinoma9.9CD36, COL1A1, COL1A2
38ehlers-danlos syndrome, classic type9.9CD36, COL1A1, COL1A2
39jackson-weiss syndrome9.9COL1A1, FGFR3
40chronobiology disease9.9COL1A1, COL1A2
41darier disease9.8COL1A1, COL1A2, FGFR3
42ankylosis9.8COL1A1, COL1A2, FGFR3
43idiopathic scoliosis9.8COL1A2, FGFR3
44chylomicron retention disease9.7CD36, COL1A1, COL1A2
45cerebellar angioblastoma9.4COL1A1, COL1A2, P3H1, PPIB
46osteogenesis imperfecta, type iii9.1CD36, COL1A1, COL1A2, CRTAP, PPIB
47branchiootic syndrome9.1COL1A1, COL1A2, CRTAP, P3H1, PPIB
48primary eye hypotony9.1COL1A1, COL1A2, CRTAP, P3H1, PPIB
49osteogenesis imperfecta, type ii8.8CD36, COL1A1, COL1A2, CRTAP, P3H1, PPIB
50bone deterioration disease8.8COL1A1, COL1A2, CRTAP, FGFR3, P3H1, PPIB

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

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 150655-98-12478
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 1264350-18-0, 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 1873

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, Bone marrow, Endothelial, Kidney, B cells

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:00053758.5CD36, COL1A1, COL1A2, P3H1
2MP:00053698.4CD36, COL1A1, COL1A2, P3H1
3MP:00107718.3COL1A1, COL1A2, FGFR3, P3H1, PPIB
4MP:00053718.3COL1A1, COL1A2, FGFR3, P3H1, PPIB
5MP:00053906.7CD36, COL1A1, COL1A2, CRTAP, FGFR3, P3H1
6MP:00053786.4CD36, 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
Peroxiredoxin 4 improves insulin biosynthesis and glucose-induced insulin secretion in insulin-secreting INS-1E cells. (25122762)
2014
2
II_I9I+ inhibits apoptosis at the outer mitochondrial membrane independently of NF-I_B retention. (25361605)
2014
3
The different morphologies of urachal adenocarcinoma do not discriminate genomically by micro-RNA expression profiling. (23528864)
2013
4
Pulmonary arterial systolic pressure and susceptibility to high altitude pulmonary edema. (21964625)
2011
5
Dyspnea and large bowel obstruction: a misleading Chilaiditi syndrome. (21861981)
2011
6
Recognizing a mother's voice in the persistent vegetative state. (17844939)
2007
7
Transient down-regulation of beta1 integrin subtypes on kidney carcinoma cells is induced by mechanical contact with endothelial cell membranes. (17760843)
2007
8
Association between leptin, metabolic factors and liver histology in patients with chronic hepatitis C. (17505564)
2007
9
Role of PDZK1 in membrane expression of renal brush border ion exchangers. (16141316)
2005
10
The diminishing role of surgery in the treatment of gastric lymphoma. (15213615)
2004
11
A novel alternative splicing isoform of vascular endothelial growth factor gene in human beings]. (12133520)
2002
12
Identification of GFAT1-L, a novel splice variant of human glutamine: fructose-6-phosphate amidotransferase (GFAT1) that is expressed abundantly in skeletal muscle. (11587069)
2001
13
Hairy cell leukemia, a B-cell neoplasm that is particularly sensitive to the cytotoxic effect of anti-Tac(Fv)-PE38 (LMB-2). (10690555)
2000
14
A special cyst puncture catheter for use in thick-walled or mobile intracranial cysts. (8121560)
1994
15
The thymidylate synthase inhibitor, ICI D1694, overcomes translational detainment of the enzyme. (8325888)
1993
16
Intact epithelial barrier function is critical for the resolution of alveolar edema in humans. (2252240)
1990

Variations for Osteogenesis Imperfecta, Type Ii

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

67 (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_063354
111COL1A2p.Gly457LeuVAR_063355
112COL1A2p.Gly526GluVAR_063357
113COL1A2p.Gly562ValVAR_063358
114COL1A2p.Gly625AspVAR_063360
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 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 15)
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
89.7COL1A1, COL1A2
99.7COL1A1, COL1A2
109.2COL1A1, COL1A2, FGFR3
118.9CD36, COL1A1, COL1A2
12
Show member pathways
8.9CD36, COL1A1, COL1A2
13
Show member pathways
8.9CD36, COL1A1, COL1A2
14
Show member pathways
8.1COL1A1, COL1A2, CRTAP, P3H1, PPIB
15
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:00055849.7COL1A1, COL1A2
2cell surfaceGO:00099868.8CD36, FGFR3

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1endochondral ossificationGO:000195810.1COL1A1, FGFR3
2collagen catabolic processGO:00305749.8COL1A1, COL1A2
3cellular response to amino acid stimulusGO:00712309.8COL1A1, COL1A2
4skin morphogenesisGO:00435899.7COL1A1, COL1A2
5positive regulation of MAPK cascadeGO:00434109.5CD36, FGFR3
6leukocyte migrationGO:00509009.4COL1A1, COL1A2
7positive regulation of ERK1 and ERK2 cascadeGO:00703749.4CD36, FGFR3
8receptor-mediated endocytosisGO:00068989.2CD36, COL1A1
9platelet activationGO:00301689.1CD36, COL1A1, COL1A2
10blood coagulationGO:00075969.0CD36, COL1A1, COL1A2

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