MCID: OST080
MIFTS: 51

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 51 49
Vrolik Type of Osteogenesis Imperfecta 11 47 69
Osteogenesis Imperfecta Type 2 11 47 53
Osteogenesis Imperfecta Congenita Perinatal Lethal Form 47 69
Osteogenesis Imperfecta Congenita 47 69
Osteogenesis Imperfecta Type Ii 11 47
Lethal Osteogenesis Imperfecta 47 53
Oi Type 2 47 53
Oi2 11 69
Perinatal Lethal Osteogenesis Imperfecta Congenita 11
 
Osteogenesis Imperfecta, Dominant Perinatal Lethal 67
Osteogenesis Imperfecta Type Ii Autosomal Dominant 69
Osteogenesis Imperfecta Type Iia 69
Osteogenesis Imperfecta 2 69
Perinatally Lethal Oi 47
Oi, Type Ii 69
Oi Type Iia 69
Oi-Iia 69
Oi-Ii 69
Oic 69

Characteristics:

Orphanet epidemiological data:

53
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:

63
osteogenesis imperfecta, type ii:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM51 166210
Disease Ontology11 DOID:0110341
ICD1029 Q78.0
Orphanet53 ORPHA216804
ICD10 via Orphanet30 Q78.0
MeSH38 D010013

Summaries for Osteogenesis Imperfecta, Type Ii

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UniProtKB/Swiss-Prot:69 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 vrolik type of osteogenesis imperfecta, is related to osteogenesis imperfecta, type vii and perinatally lethal osteogenesis imperfecta, 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 adipose tissue and muscle.

Disease Ontology:11 An osteogenesis imperfecta that is characterized by bone fragility and perinatal lethality and has material basis in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3.

OMIM:51 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 27)
idRelated DiseaseScoreTop Affiliating Genes
1osteogenesis imperfecta, type vii31.5CD36, CRTAP
2perinatally lethal osteogenesis imperfecta12.2
3osteogenesis imperfecta congenita, microcephaly, and cataracts12.0
4osteogenesis imperfecta10.5
5infundibulo-neurohypophysitis10.3COL1A1, COL1A2
6contractures-webbed neck-micrognathia-hypoplastic nipples syndrome10.3COL1A1, COL1A2
7elliptocytosis 310.2COL1A1, COL1A2
8deafness, autosomal recessive 9110.2COL1A1, COL1A2
9osteogenesis imperfecta, type iv10.2COL1A1, COL1A2
10ehlers-danlos syndrome, classic type10.1COL1A1, COL1A2
11descending colon cancer10.1COL1A1, COL1A2
12hodgkin's lymphoma, lymphocytic-histiocytic predominance10.0COL1A1, COL1A2
13constipation10.0
14diabetic foot ulcers9.9COL1A1, COL1A2, CRTAP
15hydrocephalus9.9
16syphilitic myelopathy9.8COL1A1, FGFR3
17pex7-related refsum disease9.8CD36, COL1A1, COL1A2
18mental retardation, autosomal recessive 359.8CD36, COL1A1, COL1A2
19ceroid lipofuscinosis, neuronal, 119.8CD36, COL1A1, COL1A2
20vulvovaginal candidiasis9.6COL1A1, COL1A2, FGFR3
21sclerosteosis9.5COL1A1, COL1A2, FGFR3
22jackson-weiss syndrome9.4COL1A1, FGFR3
23chylomicron retention disease9.4CD36, COL1A1, COL1A2
24fetishism9.0COL1A1, COL1A2, CRTAP, P3H1, PPIB
25osteogenesis imperfecta, type iii8.9CD36, COL1A1, COL1A2, CRTAP, PPIB
26ischemic bone disease8.3COL1A1, COL1A2, CRTAP, FGFR3, P3H1, PPIB
27ehlers-danlos syndrome, cardiac valvular form7.8CD36, 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

Human phenotypes related to Osteogenesis Imperfecta, Type Ii:

 63 (show all 21)
id Description HPO Frequency HPO Source Accession
1 large fontanelles63 HP:0000239
2 convex nasal ridge63 HP:0000444
3 blue sclerae63 HP:0000592
4 beaded ribs63 HP:0000923
5 platyspondyly63 HP:0000926
6 thin skin63 HP:0000963
7 small for gestational age63 HP:0001518
8 premature birth63 HP:0001622
9 congestive heart failure63 HP:0001635
10 nonimmune hydrops fetalis63 HP:0001790
11 respiratory insufficiency63 HP:0002093
12 abnormality of pelvic girdle bone morphology63 HP:0002644
13 wormian bones63 HP:0002645
14 recurrent fractures63 HP:0002757
15 tibial bowing63 HP:0002982
16 broad long bones63 HP:0005622
17 absent ossification of calvaria63 HP:0005623
18 multiple prenatal fractures63 HP:0005855
19 crumpled long bones63 HP:0006367
20 disproportionate short-limb short stature63 HP:0008873
21 pulmonary insufficiency63 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):

(show all 12)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Cyclosporineapproved, investigational, vet_approvedPhase 191579217-60-0, 59865-13-35284373, 6435893
Synonyms:
1c5f
1cyn
30024_FLUKA
30024_SIGMA
59865-13-3
79217-60-0
AC1L1EQW
AC1NQXJE
AC1NR4C4
AC1NUQK3
AC1NUZNC
AC1O5KOG
AC1Q2UDG
Ambap59865-13-3
Ambotz59865-13-3
Antibiotic S 7481F1
BMT-ABA-SAR-MLE-VAL-MLE-ALA-ALA-MLE-MLE-MVA
BMT-ABA-SAR-MLE-VAL-MLE-ALA-DAL-MLE-MLE-MVA
BPBio1_000496
BRD-A64290322-001-01-6
BRD-A69815203-001-04-3
BRD-K13533483-001-03-0
BSPBio_000450
BSPBio_001596
BSPBio_003186
C 3662
C05086
C1832_SIGMA
C3662_SIGMA
C62H111N11O12
CB-01-09 MMX
CHEBI:106343
CHEBI:328305
CHEBI:4031
CHEMBL160
CHEMBL386389
CHEMBL532318
CID2909
CID5280754
CID5284373
CID5458585
CID5497195
CID6435893
CSA
CYCLOSPORIN A (SEE ALSO TRANSGENIC MODEL EVALUATION (CYCLOSPORIN A))
CYCLOSPORIN A, USP
Ciclosporin
Ciclosporin (JP15)
Ciclosporina
Ciclosporine
Ciclosporinum
Cipol N
Cipol-N
Consupren
Consupren S
CsA
CsA & IFN.alpha.
CyA
Cyclokat
Cyclosporin
Cyclosporin A
Cyclosporin A & IFN.alpha.
Cyclosporin A Implant
Cyclosporin A, Tolypocladium inflatum
Cyclosporine (USP)
Cyclosporine A
Cyclosporine [USAN]
D00184
DE-076
DivK1c_000871
EU-0100242
Equoral
GNF-Pf-2808
Gengraf
Gengraf (TN)
HMS1569G12
HMS1791P18
HMS1921L20
HMS1989P18
HMS2089A09
HMS2092F06
HMS502L13
Helv Chim Acta 60: 1568 (1977)
 
I06-0379
I06-0966
IDI1_000871
KBio1_000871
KBio2_000780
KBio2_003348
KBio2_005916
KBio3_002686
KBioGR_001898
KBioSS_000780
LMPK14000003
LS-257
LS-58836
Lopac0_000242
MLS000028376
MLS001333756
MLS002153454
MLS002207033
Mitogard
Modusik-A
MolPort-000-760-988
MolPort-005-934-008
MolPort-006-705-994
NCGC00093704-01
NCGC00093704-02
NCGC00093704-03
NCGC00093704-04
NCGC00093704-05
NCGC00093704-06
NCGC00093704-07
NCGC00093704-08
NCGC00164258-01
NCGC00164258-02
NINDS_000871
NSC290193
Neoplanta
Neoral
Neoral (TN)
NeuroSTAT
Nova-22007
OL 27-400
OL-27400
OLO-400
Papilock
Prestwick2_000435
Prestwick3_000435
Prestwick_731
Pulminiq
Ramihyphin A
Restasis
Restasis (TN)
S-Neoral
S1514_Selleck
SDZ-OXL 400
SMR000058578
SPBio_001467
SPECTRUM1502202
ST-603
Sandimmun
Sandimmun Neoral
Sandimmune
Sandimmune (TN)
Sandimmune, Gengraf, Restasis, Atopica, Sangcya, Cyclosporine
Sang-2000
Sang-35
SangCyA
Sangcya
Sigmasporin
Sigmasporin Microoral
Spectrum2_001484
Spectrum3_001593
Spectrum4_001279
Spectrum5_001628
Spectrum_000300
TRANSGENIC MODEL EVALUATION (CYCLOSPORIN A)
Vekacia
Zyclorin
cyclophorine
cyclosporin A
cyclosporine
from Tolypocladium inflatum (Trichoderma polysporin)
nchembio.184-comp6
nchembio.301-comp5
nchembio.342-comp1
2
Miconazoleapproved, investigational, vet_approvedPhase 1362422916-47-84189
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
3
Cyclophosphamideapproved, investigationalPhase 1282950-18-0, 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
4
Busulfanapproved, investigationalPhase 154055-98-12478
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)
5Dermatologic AgentsPhase 15674
6Immunosuppressive AgentsPhase 112770
7Antifungal AgentsPhase 13615
8Anti-Infective AgentsPhase 121402
9Antineoplastic Agents, AlkylatingPhase 14474
10Alkylating AgentsPhase 14694
11Calcineurin InhibitorsPhase 11597
12Antirheumatic AgentsPhase 110627

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:

35
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:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053759.2CD36, COL1A1, COL1A2, P3H1
2MP:00053699.1CD36, COL1A1, COL1A2, P3H1
3MP:00107718.8COL1A1, COL1A2, FGFR3, P3H1, PPIB
4MP:00053718.8COL1A1, COL1A2, FGFR3, P3H1, PPIB
5MP:00053787.5CD36, COL1A1, COL1A2, CRTAP, FGFR3, P3H1
6MP:00053906.7CD36, 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:

69 (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_001861rs72658109
84COL1A2p.Gly433GluVAR_001862rs72658114
85COL1A2p.Gly511AspVAR_001864rs66999265
86COL1A2p.Gly547ArgVAR_001866rs72658136
87COL1A2p.Gly562CysVAR_001868rs72658138
88COL1A2p.Gly586ArgVAR_001869rs72658139
89COL1A2p.Gly592SerVAR_001870rs72658141
90COL1A2p.Gly637AspVAR_001872rs72658148
91COL1A2p.Gly640SerVAR_001873
92COL1A2p.Gly670AspVAR_001874rs72658155
93COL1A2p.Gly715AspVAR_001877rs72658167
94COL1A2p.Gly730CysVAR_001878rs72658171
95COL1A2p.Gly754ArgVAR_001882
96COL1A2p.Gly784ArgVAR_001885rs66592844
97COL1A2p.Gly787CysVAR_001886rs72658187
98COL1A2p.Gly790AspVAR_001887rs72658188
99COL1A2p.Gly796SerVAR_001888rs66716547
100COL1A2p.Gly877CysVAR_001891rs72658201
101COL1A2p.Gly895AspVAR_001893rs72659305
102COL1A2p.Gly955SerVAR_001895rs66507857
103COL1A2p.Gly997AspVAR_001896rs72659317
104COL1A2p.Gly1066AspVAR_001899rs72659331
105COL1A2p.Gly1078CysVAR_001900
106COL1A2p.Arg234CysVAR_063345
107COL1A2p.Gly253AspVAR_063347rs72656385
108COL1A2p.Gly283ArgVAR_063349
109COL1A2p.Gly397GluVAR_063353
110COL1A2p.Gly454CysVAR_063354rs72658117
111COL1A2p.Gly457LeuVAR_063355
112COL1A2p.Gly526GluVAR_063357rs72658130
113COL1A2p.Gly562ValVAR_063358
114COL1A2p.Gly625AspVAR_063360rs72658145
115COL1A2p.Gly739ArgVAR_063364rs72658174
116COL1A2p.Gly748ValVAR_063365
117COL1A2p.Gly856ValVAR_063373
118COL1A2p.Gly955AspVAR_063374
119COL1A2p.Gly982AspVAR_063375rs67422093
120COL1A2p.Gly1003AspVAR_063378
121COL1A2p.Gly1027GluVAR_063379rs72659323

Clinvar genetic disease variations for Osteogenesis Imperfecta, Type Ii:

5 (show all 61)
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)SNVPathogenicrs121912900GRCh37Chr 7, 94054475: 94054475
3COL1A2COL1A2, EX33DELdeletionPathogenicChr na, -1: -1
4COL1A2NM_000089.3(COL1A2): c.1640G> A (p.Gly547Asp)SNVPathogenicrs121912901GRCh37Chr 7, 94043234: 94043234
5COL1A2NM_000089.3(COL1A2): c.2593G> A (p.Gly865Ser)SNVPathogenicrs121912902GRCh37Chr 7, 94053675: 94053675
6COL1A2COL1A2, GLY976ASPundetermined variantPathogenicChr na, -1: -1
7COL1A2NM_000089.3(COL1A2): c.2414G> A (p.Gly805Asp)SNVPathogenicrs121912904GRCh37Chr 7, 94052279: 94052279
8COL1A2COL1A2, EX28DELdeletionPathogenicChr na, -1: -1
9COL1A2NM_000089.3(COL1A2): c.1414G> T (p.Gly472Cys)SNVPathogenicrs121912906GRCh37Chr 7, 94041905: 94041905
10COL1A2COL1A2, IVS33DS, G-A, +5SNVPathogenicChr na, -1: -1
11COL1A2NM_000089.3(COL1A2): c.2080G> C (p.Gly694Arg)SNVPathogenicrs121912908GRCh37Chr 7, 94049545: 94049545
12COL1A2NM_000089.3(COL1A2): c.1739G> A (p.Gly580Asp)SNVPathogenicrs121912909GRCh37Chr 7, 94044557: 94044557
13COL1A2NM_000089.3(COL1A2): c.1504G> A (p.Gly502Ser)SNVPathogenicrs121912910GRCh37Chr 7, 94042395: 94042395
14COL1A2NM_000089.3(COL1A2): c.1262G> A (p.Gly421Asp)SNVPathogenicrs267606741GRCh37Chr 7, 94040378: 94040378
15COL1A1NM_000088.3(COL1A1): c.824G> A (p.Gly275Asp)SNVPathogenicrs72645333GRCh37Chr 17, 48274012: 48274012
16COL1A1NM_000088.3(COL1A1): c.1705G> C (p.Gly569Arg)SNVPathogenicrs72648363GRCh37Chr 17, 48271366: 48271366
17COL1A1NM_000088.3(COL1A1): c.2210G> A (p.Gly737Asp)SNVPathogenicrs72651651GRCh37Chr 17, 48268769: 48268769
18COL1A1NM_000088.3(COL1A1): c.2552G> A (p.Gly851Asp)SNVPathogenicrs72653137GRCh37Chr 17, 48267369: 48267369
19COL1A1NM_000088.3(COL1A1): c.2533G> A (p.Gly845Arg)SNVPathogenicrs72653136GRCh37Chr 17, 48267388: 48267388
20COL1A1NM_000088.3(COL1A1): c.2605G> T (p.Gly869Cys)SNVPathogenicrs72653143GRCh37Chr 17, 48267228: 48267228
21COL1A1NM_000088.3(COL1A1): c.2686G> T (p.Gly896Cys)SNVPathogenicrs72653152GRCh37Chr 17, 48266881: 48266881
22COL1A1NM_000088.3(COL1A1): c.2776G> T (p.Gly926Cys)SNVPathogenicrs72653154GRCh37Chr 17, 48266791: 48266791
23COL1A1NM_000088.3(COL1A1): c.3073G> A (p.Gly1025Arg)SNVPathogenicrs72653172GRCh37Chr 17, 48266129: 48266129
24COL1A1NM_000088.3(COL1A1): c.3182G> A (p.Gly1061Asp)SNVPathogenicrs72654797GRCh37Chr 17, 48265916: 48265916
25COL1A1NM_000088.3(COL1A1): c.3244G> T (p.Gly1082Cys)SNVPathogenicrs72656303GRCh37Chr 17, 48265474: 48265474
26COL1A1NM_000088.3(COL1A1): c.3271G> A (p.Gly1091Ser)SNVPathogenicrs72656306GRCh37Chr 17, 48265335: 48265335
27COL1A1NM_000088.3(COL1A1): c.3496G> T (p.Gly1166Cys)SNVPathogenicrs72656324GRCh37Chr 17, 48264411: 48264411
28COL1A1NM_000088.3(COL1A1): c.3559G> A (p.Gly1187Ser)SNVPathogenicrs72656332GRCh37Chr 17, 48264256: 48264256
29COL1A1COL1A1, 9-BP DELdeletionPathogenicChr na, -1: -1
30COL1A1COL1A1, 1-BP INS, 4088TinsertionPathogenicChr na, -1: -1
31COL1A1NM_000088.3(COL1A1): c.2156G> A (p.Gly719Asp)SNVPathogenicrs72651646GRCh37Chr 17, 48268823: 48268823
32COL1A1NM_000088.3(COL1A1): c.3541G> A (p.Gly1181Ser)SNVPathogenicrs72656330GRCh37Chr 17, 48264274: 48264274
33COL1A1NM_000088.3(COL1A1): c.2444G> T (p.Gly815Val)SNVPathogenicrs66929517GRCh37Chr 17, 48267695: 48267695
34COL1A1NM_000088.3(COL1A1): c.3452G> T (p.Gly1151Val)SNVPathogenicrs72656321GRCh37Chr 17, 48264455: 48264455
35COL1A1NM_000088.3(COL1A1): c.1301G> T (p.Gly434Val)SNVPathogenicrs72648333GRCh37Chr 17, 48272460: 48272460
36COL1A1COL1A1, IVS14DS, G-A, +5SNVPathogenicChr na, -1: -1
37COL1A1NM_000088.3(COL1A1): c.2939G> T (p.Gly980Val)SNVPathogenicrs72653166GRCh37Chr 17, 48266370: 48266370
38COL1A1COL1A1, EX15-16DUPduplicationPathogenicChr na, -1: -1
39COL1A1NM_000088.3(COL1A1): c.1777G> A (p.Gly593Ser)SNVPathogenicrs66527965GRCh37Chr 17, 48270399: 48270399
40COL1A1NM_000088.3(COL1A1): c.2228G> T (p.Gly743Val)SNVPathogenicrs72651653GRCh37Chr 17, 48268751: 48268751
41COL1A1NM_000088.3(COL1A1): c.1598G> A (p.Gly533Asp)SNVPathogenicrs72648356GRCh37Chr 17, 48271726: 48271726
42COL1A1NM_000088.3(COL1A1): c.2291G> T (p.Gly764Val)SNVPathogenicrs72651657GRCh37Chr 17, 48268230: 48268230
43COL1A1COL1A1, 9-BP DUPduplicationPathogenicChr na, -1: -1
44COL1A1NM_000088.3(COL1A1): c.91C> T (p.Gln31Ter)SNVPathogenicrs794726873GRCh37Chr 17, 48278784: 48278784
45COL1A1NM_000088.3(COL1A1): c.959G> A (p.Gly320Asp)SNVLikely pathogenicrs72645353GRCh37Chr 17, 48273559: 48273559
46COL1A1NM_000088.3(COL1A1): c.1318G> A (p.Gly440Ser)SNVLikely pathogenicrs794727319GRCh37Chr 17, 48272443: 48272443
47COL1A1NM_000088.3(COL1A1): c.1767+2T> GSNVPathogenicrs794727394GRCh37Chr 17, 48271302: 48271302
48COL1A2NM_000089.3(COL1A2): c.3034G> A (p.Gly1012Ser)SNVLikely pathogenicrs72659319GRCh38Chr 7, 94426459: 94426459
49COL1A2NM_000089.3(COL1A2): c.2957C> T (p.Pro986Leu)SNVLikely pathogenicrs768171831GRCh37Chr 7, 94055323: 94055323
50COL1A1NM_000088.3(COL1A1): c.1678G> A (p.Gly560Ser)SNVPathogenicrs67507747GRCh37Chr 17, 48271393: 48271393
51COL1A1NM_000088.3(COL1A1): c.1875+1G> CSNVPathogenicrs72651622GRCh37Chr 17, 48270157: 48270157
52COL1A1NM_000088.3(COL1A1): c.2434G> A (p.Gly812Ser)SNVLikely pathogenicrs886042260GRCh37Chr 17, 48267705: 48267705
53COL1A1NM_000088.3(COL1A1): c.3567delT (p.Gly1190Valfs)deletionPathogenicrs886042286GRCh37Chr 17, 48264248: 48264248
54COL1A1NM_000088.3(COL1A1): c.2930G> T (p.Gly977Val)SNVLikely pathogenicrs886042308GRCh37Chr 17, 48266536: 48266536
55COL1A1NM_000088.3(COL1A1): c.472-1G> CSNVPathogenicrs72667020GRCh37Chr 17, 48275866: 48275866
56COL1A1NM_000088.3(COL1A1): c.896delG (p.Gly299Valfs)deletionPathogenicrs886042473GRCh37Chr 17, 48273852: 48273852
57COL1A2NM_000089.3(COL1A2): c.2656G> A (p.Gly886Ser)SNVLikely pathogenicrs886043796GRCh37Chr 7, 94053738: 94053738
58COL1A1NM_000088.3(COL1A1): c.3127G> A (p.Gly1043Arg)SNVLikely pathogenicrs886044125GRCh37Chr 17, 48265971: 48265971
59COL1A2NM_000089.3(COL1A2): c.2512G> A (p.Gly838Ser)SNVLikely pathogenicGRCh37Chr 7, 94052377: 94052377
60COL1A1NM_000088.3(COL1A1): c.4247delC (p.Thr1416Argfs)deletionPathogenicrs398122835GRCh37Chr 17, 48263140: 48263140
61COL1A1NM_000088.3(COL1A1): c.4160C> T (p.Ala1387Val)SNVPathogenicrs397514672GRCh37Chr 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:000558110.3COL1A1, COL1A2
3macromolecular complexGO:00329919.5CRTAP, P3H1, PPIB
4proteinaceous extracellular matrixGO:00055789.3COL1A1, CRTAP, P3H1
5extracellular spaceGO:00056158.4CD36, COL1A1, COL1A2, CRTAP
6endoplasmic reticulum lumenGO:00057888.4COL1A1, 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:007020810.1COL1A1, COL1A2
3collagen catabolic processGO:003057410.0COL1A1, COL1A2
4blood vessel developmentGO:000156810.0COL1A1, COL1A2
5negative regulation of post-translational protein modificationGO:190187410.0CRTAP, P3H1
6endochondral ossificationGO:00019589.9COL1A1, FGFR3
7bone developmentGO:00603489.8P3H1, PPIB
8collagen fibril organizationGO:00301999.8COL1A1, COL1A2
9cellular response to amino acid stimulusGO:00712309.7COL1A1, COL1A2
10skeletal system developmentGO:00015019.4COL1A1, COL1A2, FGFR3
11positive regulation of MAPK cascadeGO:00434109.3CD36, FGFR3
12protein stabilizationGO:00508219.0CRTAP, P3H1, PPIB
13chaperone-mediated protein foldingGO:00610778.9CRTAP, P3H1, PPIB
14blood coagulationGO:00075968.8CD36, 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:004840710.0COL1A1, 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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet