OI3
MCID: OST122
MIFTS: 59

Osteogenesis Imperfecta, Type Iii (OI3) malady

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

Aliases & Classifications for Osteogenesis Imperfecta, Type Iii

About this section
Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 27GTR, 30ICD10, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Osteogenesis Imperfecta, Type Iii:

Name: Osteogenesis Imperfecta, Type Iii 52
Osteogenesis Imperfecta Type Iii 11 48 70 68
Osteogenesis Imperfecta Type 3 11 54 13
Progressive Deforming Osteogenesis Imperfecta 48 54
Severe Osteogenesis Imperfecta 48 54
Osteogenesis Imperfecta 3 70 27
Oi, Type Iii 70 50
Oi Type Iii 48 12
 
Oi Type 3 48 54
Oi3 11 70
Osteogenesis Imperfecta, Progressively Deforming with Normal Sclerae 48
Progressively Deforming Osteogenesis Imperfecta with Normal Sclerae 70
Progressively Deforming Osteogenesis Imperfecta with Normal Sclera 11
Progressively Deforming Oi 48
Oi-Iii 70

Characteristics:

Orphanet epidemiological data:

54
osteogenesis imperfecta type 3:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/1000000 (Sweden); Age of onset: Infancy,Neonatal

HPO:

64
osteogenesis imperfecta, type iii:
Inheritance: autosomal dominant inheritance, autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 259420
Disease Ontology11 DOID:0110339
ICD1030 Q78.0
Orphanet54 ORPHA216812
UMLS via Orphanet69 C0268362
ICD10 via Orphanet31 Q78.0
MESH via Orphanet40 C536044
MedGen37 C0268362
MeSH39 D010013

Summaries for Osteogenesis Imperfecta, Type Iii

About this section
NIH Rare Diseases:48 Osteogenesis imperfecta type iii (oi type iii) is a form of osteogenesis imperfecta, a group of genetic conditions that primarily affect the bones. in oi type iii, specifically, a diagnosis can often be made shortly after birth as fractures (broken bones) during the newborn period simply from handling the infant are common. other signs and symptoms vary significantly from person to person but may include severe bone fragility, bone malformations, short stature, dental problems (dentinogenesis imperfect), macrocephaly (unusually large head), hearing loss, and blue sclerae (whites of the eyes). most affected people are unable to walk without assistance. oi type iii is caused by changes (mutations) in the col1a1 or col1a2 genes and is inherited in an autosomal dominant manner. treatment is based on the signs and symptoms present in each person. last updated: 3/24/2016

MalaCards based summary: Osteogenesis Imperfecta, Type Iii, also known as osteogenesis imperfecta type iii, is related to progressively deforming osteogenesis imperfecta and osteogenesis imperfecta, type viii, and has symptoms including wide anterior fontanel, triangular face and micrognathia. An important gene associated with Osteogenesis Imperfecta, Type Iii is COL1A2 (Collagen Type I Alpha 2 Chain), and among its related pathways are Osteoblast Signaling and Binding and Uptake of Ligands by Scavenger Receptors. Affiliated tissues include bone, eye and skin, and related mouse phenotypes are adipose tissue and limbs/digits/tail.

Disease Ontology:11 An osteogenesis imperfecta that is characterized by progressive limb and spinal deformity and normal sclerae and has material basis in mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3.

UniProtKB/Swiss-Prot:70 Osteogenesis imperfecta 3: 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. OI3 is characterized by progressively deforming bones, very short stature, a triangular face, severe scoliosis, grayish sclera and dentinogenesis imperfecta.

Description from OMIM:52 259420

Related Diseases for Osteogenesis Imperfecta, Type Iii

About this section

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 P3h1-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 Iii via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 52)
idRelated DiseaseScoreTop Affiliating Genes
1progressively deforming osteogenesis imperfecta11.2
2osteogenesis imperfecta, type viii10.9
3osteogenesis imperfecta, type iv10.9
4osteogenesis imperfecta, type xiii10.9
5osteogenesis imperfecta, type xiv10.9
6osteogenesis imperfecta, type v10.9
7osteogenesis imperfecta, type xv10.9
8osteogenesis imperfecta, type vi10.9
9osteogenesis imperfecta10.6
10cngb3-related stargardt disease 110.3COL1A1, COL1A2
11isolated lissencephaly type 1 without known genetic defects10.3COL1A1, COL1A2
12charcot-marie-tooth neuropathy type 2a10.3COL1A1, COL1A2
1320p13 microdeletion syndrome10.3COL1A1, COL1A2
14epileptic encephalopathy, early infantile, 3610.3COL1A1, COL1A2
15phyh-related refsum disease10.3CD36, COL1A1, COL1A2
16factor xiiia deficiency10.3COL1A1, COL1A2
17inflammatory bowel disease 2210.3CRTAP, FKBP10
18long qt syndrome 110.3CD36, COL1A1, COL1A2
19muscle hypertrophy10.3CD36, COL1A1, COL1A2
20prph2-related retinitis pigmentosa10.3COL1A1, COL1A2, SERPINF1
21ceroid lipofuscinosis, neuronal, 1110.3CD36, COL1A1, COL1A2
22agraphia10.3CD36, COL1A1, COL1A2
23cerebellar ataxia, mental retardation, and dysequilibrium syndrome 210.3COL1A1, COL1A2, SERPINF1
24epilepsy, idiopathic generalized 1410.2BGLAP, CD36
25human herpesvirus 810.2CD36, COL1A1, COL1A2, CRTAP
26ehlers-danlos syndrome, type vi10.2COL1A1, PLOD2
27noonan syndrome 410.2CD36, SERPINH1
28porphyria cutanea tarda10.2COL1A1, COL1A2, CRTAP, P3H1
29diabetic neuropathy10.1COL1A1, COL1A2, CRTAP, FKBP10, P3H1
30dysbaric osteonecrosis10.1BGLAP, COL1A1, IGF1
31sohval soffer syndrome10.1IGF1, IGFBP3
32seow najjar syndrome10.0IGF1, IGFBP3
33deafness, autosomal recessive 6110.0CD36, COL1A1, COL1A2, CRTAP, P3H1, PPIB
34bone structure disease10.0COL1A1, COL1A2, CRTAP, FKBP10, P3H1, PPIB
35central nervous system leiomyoma9.9BGLAP, IGF1, IGFBP3
36extrahepatic bile duct adenocarcinoma9.9BGLAP, IGF1, IGFBP3
37clivus meningioma9.9COL1A1, COL1A2, P3H1, PLOD2, PPIB, SERPINH1
38albinism, oculocutaneous, type ib9.9IGF1, IGFBP3, SERPINF1, SERPINH1
39cerebellar hypoplasia9.9
40brachydactyly9.9
41arachnoiditis9.9
42arachnoid cysts9.9
43post-traumatic stress disorder9.9BMP1, COL1A1, IGF1, IGFBP3
44phacolytic glaucoma9.8BGLAP, COL1A1, IGF1, IGFBP3, WNT1
45osteogenesis imperfecta, type ii9.8CD36, COL1A1, COL1A2, CRTAP, FKBP10, PPIB
46edict syndrome9.7BGLAP, IGF1, IGFBP3
47carnitine deficiency, systemic primary9.7BGLAP, CD36, COL1A1, COL1A2, IGF1, IGFBP3
48autism susceptibility 169.6COL1A1, COL1A2, CRTAP, FKBP10, P3H1, PLOD2
49mental retardation, autosomal recessive 359.6BGLAP, CD36, COL1A1, COL1A2, IGF1, IGFBP3
50xanthinuria9.6CD36, COL1A1, COL1A2, CRTAP, FKBP10, P3H1

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



Diseases related to osteogenesis imperfecta, type iii

Symptoms & Phenotypes for Osteogenesis Imperfecta, Type Iii

About this section

Symptoms by clinical synopsis from OMIM:

259420

Clinical features from OMIM:

259420

Human phenotypes related to Osteogenesis Imperfecta, Type Iii:

 64 (show all 25)
id Description HPO Frequency HPO Source Accession
1 wide anterior fontanel64 HP:0000260
2 triangular face64 HP:0000325
3 micrognathia64 HP:0000347
4 hearing impairment64 HP:0000365
5 blue sclerae64 HP:0000592
6 dentinogenesis imperfecta64 HP:0000703
7 abnormality of the nervous system64 HP:0000707
8 abnormality of the thorax64 HP:0000765
9 frontal bossing64 HP:0002007
10 pulmonary arterial hypertension64 HP:0002092
11 wormian bones64 HP:0002645
12 scoliosis64 HP:0002650
13 platybasia64 HP:0002691
14 recurrent fractures64 HP:0002757
15 kyphosis64 HP:0002808
16 tibial bowing64 HP:0002982
17 bowing of limbs due to multiple fractures64 HP:0003023
18 slender long bone64 HP:0003100
19 protrusio acetabuli64 HP:0003179
20 biconcave vertebral bodies64 HP:0004586
21 decreased calvarial ossification64 HP:0005474
22 basilar impression64 HP:0005758
23 multiple prenatal fractures64 HP:0005855
24 severe generalized osteoporosis64 HP:0005897
25 neonatal short-limb short stature64 HP:0008921

MGI Mouse Phenotypes related to Osteogenesis Imperfecta, Type Iii according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053759.0BMP1, CD36, COL1A1, COL1A2, IGF1, IGFBP3
2MP:00053718.5BMP1, COL1A1, COL1A2, FKBP10, IGF1, NOTO
3MP:00053698.1BMP1, CD36, COL1A1, COL1A2, IGF1, IGFBP3
4MP:00053787.3BMP1, CD36, COL1A1, COL1A2, CREB3L1, CRTAP
5MP:00053857.2BMP1, CD36, COL1A1, COL1A2, FKBP10, IGF1
6MP:00053977.1BMP1, CD36, COL1A1, CREB3L1, FKBP10, IGF1
7MP:00053766.7BMP1, CD36, COL1A1, COL1A2, CREB3L1, FKBP10
8MP:00053906.4BMP1, CD36, COL1A1, COL1A2, CREB3L1, CRTAP

Drugs & Therapeutics for Osteogenesis Imperfecta, Type Iii

About this section

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

(show all 22)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Zoledronic acidapprovedPhase 3, Phase 2294118072-93-868740
Synonyms:
(1-Hydroxy-2-imidazol-1-ylethylidene)diphosphonic acid
(1-hydroxy-2-(1H-imidazol-1-yl)ethylidene)bisphosphonic acid
(1-hydroxy-2-imidazol-1-yl-1-phosphonoethyl)phosphonic acid
(1-hydroxy-2-imidazol-1-yl-phosphonoethyl)phosphonic acid monohydrate
(1-hydroxy-2-imidazol-1-ylethylidene)diphosphonic acid
118072-93-8
2-(imidazol-1-yl)-1-hydroxyethane-1,1-diphosphonic acid
2-(imidazol-1-yl)-1-hydroxyethylidene-1,1-bisphosphonic acid
AC-1092
AC1L2ACJ
AC1Q6RN3
AKOS005145739
Aclasta
Anhydrous Zoledronic Acid
BIDD:GT0292
BIDD:PXR0134
Bio-0112
Bisphosphonate 3
C088658
CGP 42'446
CGP 42446
CGP 42446A
CGP-42'446
CGP-42446
CHEBI:46557
CHEMBL924
CID68740
D08689
DB00399
 
FT-0082657
HMS2089O09
I06-0710
KS-1132
LS-181815
MolPort-002-885-874
MolPort-003-850-890
NCGC00159521-02
NCGC00159521-03
NSC721517
Novartis brand of zoledronic acid
Reclast
Reclast (TN)
S00092
S1314_Selleck
UNII-70HZ18PH24
ZOL
Zol
Zoledronate
Zoledronic Acid Anhydrous
Zoledronic Acid, Anhydrous
Zoledronic acid
Zoledronic acid (INN)
Zoledronic acid [USAN:INN]
Zometa
Zometa (Novartis)
Zometa (TN)
Zometa Concentrate
Zometa, Zomera, Aclasta and Reclast, Zoledronic Acid
[1-hydroxy-2-(1H-imidazol-1-yl)ethane-1,1-diyl]bis(phosphonic acid)
2
PamidronateapprovedPhase 34440391-99-94674
Synonyms:
(3-AMINO-1-HYDROXY-1-PHOSPHONO-PROPYL)PHOSPHONIC ACID
(3-Amino-1-hydroxypropylidene)bisphosphonic acid
(3-Amino-1-hydroxypropylidene)diphosphonic acid
(3-amino-1-hydroxy-1-phosphonopropyl)phosphonic acid
(3-amino-1-hydroxypropane-1,1-diyl)bis(phosphonic acid)
(3-amino-1-hydroxypropylidene)-1,1-biphosphonate
(3-amino-1-hydroxypropylidene)-1,1-bisphosphonate
1-hydroxy-3-aminopropane-1,1-diphosphonic acid
3-Amino-1-hydroxypropylidene-1,1-diphosphonate
40391-99-9
57248-88-1
57248-88-1 (di-hydrochloride salt)
AC1L1IP4
AHPrBP
AKOS003599275
APD
Acide pamidronique
Acide pamidronique [INN-French]
Acido pamidronico
Acido pamidronico [INN-Spanish]
Acidum pamidronicum
Acidum pamidronicum [INN-Latin]
Amidronate
Aminomux
Aredia
BIDD:GT0538
Bisphosphonate 6
C019248
C07395
C3H11NO7P2
 
CHEMBL834
CID4674
ChemDiv1_025240
D07281
DB00282
EINECS 254-905-2
HMS2090C13
HMS658L06
HSCI1_000312
I14-2407
LS-174826
MolPort-002-131-054
NCGC00159433-02
NCGC00159433-03
Novartis brand of pamidronate disodium salt
PAMIDRONATE DISODIUM
PAMIDRONIC ACID
Pamidronate Disodium
Pamidronic acid
Pamidronic acid (INN)
Pamidronic acid [INN:BAN]
Ribodroat
Ribodroat (TN)
STOCK1N-12562
UNII-OYY3447OMC
amino-1-hydroxypropane-1,1-diphosphonate
aminohydroxypropylidene diphosphonate
aminopropanehydroxydiphosphonate
pamidronate
pamidronate calcium
pamidronate monosodium
3Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 313168
4Hormone AntagonistsPhase 313180
5HormonesPhase 314415
6Bone Density Conservation AgentsPhase 3, Phase 23376
7DiphosphonatesPhase 3, Phase 2450
8
Cyclosporineapproved, investigational, vet_approvedPhase 192279217-60-0, 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
9
Busulfanapproved, investigationalPhase 154555-98-12478
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)
10
Miconazoleapproved, investigational, vet_approvedPhase 1370622916-47-84189
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
11
Cyclophosphamideapproved, investigationalPhase 1293550-18-0, 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
12Immunosuppressive AgentsPhase 113086
13Dermatologic AgentsPhase 15806
14Antineoplastic Agents, AlkylatingPhase 14603
15Alkylating AgentsPhase 14827
16Calcineurin InhibitorsPhase 11622
17Antifungal AgentsPhase 13696
18Anti-Infective AgentsPhase 122062
19Antirheumatic AgentsPhase 110956
20ImmunoglobulinsPhase 16394
21AntibodiesPhase 16394
22Antibodies, MonoclonalPhase 14039

Interventional clinical trials:

idNameStatusNCT IDPhase
1Growth Hormone Therapy in Osteogenesis ImperfectaCompletedNCT00001305Phase 3
2An Efficacy and Safety Trial of Intravenous Zoledronic Acid in Infants Less Than One Year of Age, With Severe Osteogenesis ImperfectaCompletedNCT00982124Phase 3
3Pamidronate to Treat Osteogenesis Imperfecta in ChildrenCompletedNCT00005901Phase 3
4Zoledronic Acid in Children (1 -17 Years) With Severe Osteogenesis ImperfectaCompletedNCT00131118Phase 2
5A Study in Adult Patients With Type I, III or IV Osteogenesis Imperfecta Treated With BPS804RecruitingNCT03118570Phase 2
6Repeated Infusions of Mesenchymal Stromal Cells in Children With Osteogenesis ImperfectaCompletedNCT01061099Phase 1
7Treatment of Severe Osteogenesis Imperfecta by Allogeneic Bone Marrow TransplantationCompletedNCT00705120Phase 1
8Safety of Fresolimumab in the Treatment of Osteogenesis ImperfectaNot yet recruitingNCT03064074Phase 1
9Evaluation and Intervention for the Effects of Osteogenesis ImperfectaRecruitingNCT00001594

Search NIH Clinical Center for Osteogenesis Imperfecta, Type Iii

Genetic Tests for Osteogenesis Imperfecta, Type Iii

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Genetic tests related to Osteogenesis Imperfecta, Type Iii:

id Genetic test Affiliating Genes
1 Osteogenesis Imperfecta Type Iii27

Anatomical Context for Osteogenesis Imperfecta, Type Iii

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

36
Bone, Eye, Skin, Colon

Publications for Osteogenesis Imperfecta, Type Iii

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Articles related to Osteogenesis Imperfecta, Type Iii:

(show all 30)
idTitleAuthorsYear
1
Combined Spinal-Epidural Anesthesia With Dexmedetomidine-Based Sedation for Multiple Corrective Osteotomies in a Child With Osteogenesis Imperfecta Type III: A Case Report. (28448325)
2017
2
Increased nuchal translucency and short femur length as possible early signs of osteogenesis imperfecta type III. (23741540)
2013
3
Identification of a missense mutation of c.3064G>A, Gly1022Ser in exon 43 of COL1A1 gene in a girl with osteogenesis imperfecta type III. (23072183)
2012
4
Osteogenesis imperfecta type III with intracranial hemorrhage and brachydactyly associated with mutations in exon 49 of COL1A2. (19208385)
2009
5
New trends in the treatment of osteogenesis imperfecta type III - own experience. (19153548)
2008
6
Severe cerebellar hypoplasia associated with osteogenesis imperfecta type III. (17719950)
2007
7
Carcinoma of left colon presenting as mechanical obstruction in a patient with osteogenesis imperfecta type III. (17171434)
2007
8
Comparison of nanoindentation measurements between osteogenesis imperfecta Type III and Type IV and between different anatomic locations (femur/tibia versus iliac crest). (17453908)
2007
9
Further safety enhancement of a specialized power assisted tricycle for a child with osteogenesis imperfecta type III and design of an adjustble hand power tricycle. (16817593)
2006
10
Safety enhancement of a specialized power assisted tricycle for a child with osteogenesis imperfecta type III. (15850131)
2005
11
Treatment of poor linear growth in a patient with osteogenesis imperfecta type III. (15598484)
2004
12
Gly511 to Ser substitution in the COL1A1 gene in osteogenesis imperfecta type III patient with increased turnover of collagen. (12870654)
2003
13
Calcium kinetics in children with osteogenesis imperfecta type III and IV: pre- and post-growth hormone therapy. (10920211)
2000
14
Effect of growth hormone treatment on calcium kinetics in patients with osteogenesis imperfecta type III and IV. (10511119)
1999
15
Parental mosaicism and autosomal dominant mutations causing structural abnormalities of collagen I are frequent in families with osteogenesis imperfecta type III/IV. (9240878)
1997
16
Histopathologic and electron-microscopic features of corneal and scleral collagen fibers in osteogenesis imperfecta type III. (9248835)
1997
17
Arachnoid cyst and chronic subdural haematoma in a child with osteogenesis imperfecta type III resulting from the substitution of glycine 1006 by alanine in the pro alpha 2(I) chain of type I procollagen. (8728690)
1996
18
A Gly238Ser substitution in the alpha 2 chain of type I collagen results in osteogenesis imperfecta type III. (7860070)
1995
19
Type 1 collagen synthesis by skin fibroblasts from 17 patients with osteogenesis imperfecta type III. (8747514)
1995
20
A novel G1006A substitution in the alpha 2(I) chain of type I collagen produces osteogenesis imperfecta type III. (7749416)
1995
21
Substitution of glycine-172 by arginine in the alpha 1 chain of type I collagen in a patient with osteogenesis imperfecta, type III. (8019571)
1994
22
A Gly859Ser substitution in the triple helical domain of the alpha 2 chain of type I collagen resulting in osteogenesis imperfecta type III in two unrelated individuals. (8081394)
1994
23
A single amino acid deletion in the alpha 2(I) chain of type I collagen produces osteogenesis imperfecta type III. (8444468)
1993
24
Osteogenesis imperfecta type III: mutations in the type I collagen structural genes, COL1A1 and COL1A2, are not necessarily responsible. (8100856)
1993
25
Collagen studies in an osteogenesis imperfecta type III family. (3214053)
1988
26
Prenatal diagnosis of osteogenesis imperfecta type III. (3547385)
1987
27
Osteogenesis imperfecta type III: an ancient mutation in Africa? (3425600)
1987
28
Osteogenesis imperfecta type III. Delineation of the phenotype with reference to genetic heterogeneity. (3953678)
1986
29
Abnormal procollagen synthesis in fibroblasts from three patients of the same family with a severe form of osteogenesis imperfecta (type III). (3768427)
1986
30
On the paradoxically high relative prevalence of osteogenesis imperfecta type III in the black population of South Africa. (3995789)
1985

Variations for Osteogenesis Imperfecta, Type Iii

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

70 (show all 41)
id Symbol AA change Variation ID SNP ID
1COL1A1p.Gly332ArgVAR_001650
2COL1A1p.Gly350ArgVAR_001651
3COL1A1p.Gly530SerVAR_001666
4COL1A1p.Gly593CysVAR_001673
5COL1A1p.Gly593SerVAR_001674
6COL1A1p.Gly704CysVAR_001678
7COL1A1p.Gly719SerVAR_001680
8COL1A1p.Gly767SerVAR_001686
9COL1A1p.Gly821SerVAR_001690
10COL1A1p.Gly884SerVAR_001697
11COL1A1p.Gly1022SerVAR_001702
12COL1A1p.Gly1040SerVAR_001705
13COL1A1p.Gly1049SerVAR_001708
14COL1A1p.Gly1058SerVAR_001709
15COL1A1p.Gly1076SerVAR_001713
16COL1A1p.Gly1151SerVAR_001722
17COL1A1p.Gly1187SerVAR_001729
18COL1A1p.Leu1464ProVAR_001737
19COL1A1p.Gly866SerVAR_008118
20COL1A1p.Gly203ValVAR_063295
21COL1A2p.Gly337CysVAR_001857rs67865220
22COL1A2p.Gly337SerVAR_001858rs67865220
23COL1A2p.Gly349CysVAR_001860rs66773001
24COL1A2p.Gly460SerVAR_001863rs72658118
25COL1A2p.Gly517ArgVAR_001865rs72658126
26COL1A2p.Gly676ValVAR_001875rs66883877
27COL1A2p.Gly778SerVAR_001884rs72658186
28COL1A2p.Gly892AspVAR_001892rs72659304
29COL1A2p.Gly949SerVAR_001894rs72659312
30COL1A2p.Gly1012SerVAR_001897rs72659319
31COL1A2p.Gly1096AlaVAR_001901rs72659337
32COL1A2p.Thr1148ProVAR_001904rs1800250
33COL1A2p.Gly331AspVAR_008119rs67729041
34COL1A2p.Gly973ValVAR_008120rs67609234
35COL1A2p.Gly358SerVAR_063352rs66619856
36COL1A2p.Gly676AspVAR_063361rs66883877
37COL1A2p.Gly820SerVAR_063370rs72658191
38COL1A2p.Gly835CysVAR_063371
39COL1A2p.Gly856ArgVAR_063372
40COL1A2p.Gly991ValVAR_063377rs72659316
41COL1A2p.Gly1087AspVAR_063381rs72659335

Clinvar genetic disease variations for Osteogenesis Imperfecta, Type Iii:

5 (show all 27)
id Gene Variation Type Significance SNP ID Assembly Location
1COL1A2NM_ 000089.3(COL1A2): c.4001_ 4004delATAA (p.Asn1334Serfs)deletionPathogenicrs72659345GRCh37Chr 7, 94059605: 94059608
2COL1A2NM_ 000089.3(COL1A2): c.775G> T (p.Gly259Cys)SNVPathogenicrs121912905GRCh37Chr 7, 94038118: 94038118
3COL1A2NM_ 000089.3(COL1A2): c.1757G> T (p.Gly586Val)SNVPathogenicrs121912907GRCh37Chr 7, 94044575: 94044575
4COL1A2COL1A2, VAL255DELdeletionPathogenic
5COL1A2NM_ 000089.3(COL1A2): c.2575G> A (p.Gly859Ser)SNVPathogenicrs72658200GRCh37Chr 7, 94053657: 94053657
6COL1A2NM_ 000089.3(COL1A2): c.3017G> C (p.Gly1006Ala)SNVPathogenicrs121912911GRCh37Chr 7, 94055754: 94055754
7COL1A2NM_ 000089.3(COL1A2): c.2251G> A (p.Gly751Ser)SNVPathogenicrs72658176GRCh37Chr 7, 94049916: 94049916
8COL1A2NM_ 000089.3(COL1A2): c.1099G> T (p.Gly367Trp)SNVPathogenicrs72656402GRCh37Chr 7, 94039741: 94039741
9COL1A2NM_ 000089.3(COL1A2): c.3269G> A (p.Gly1090Asp)SNVPathogenicrs267606742GRCh37Chr 7, 94056940: 94056940
10COL1A2NM_ 000089.3(COL1A2): c.3295G> A (p.Gly1099Arg)SNVPathogenicrs72659338GRCh37Chr 7, 94056966: 94056966
11COL1A1NM_ 000088.3(COL1A1): c.2110G> T (p.Gly704Cys)SNVPathogenicrs67368147GRCh37Chr 17, 48269166: 48269166
12COL1A1NM_ 000088.3(COL1A1): c.3064G> A (p.Gly1022Ser)SNVPathogenicrs66523073GRCh37Chr 17, 48266138: 48266138
13COL1A1COL1A1, EX22DELdeletionPathogenic
14COL1A1NM_ 000088.3(COL1A1): c.994G> A (p.Gly332Arg)SNVPathogenicrs72645357GRCh37Chr 17, 48273524: 48273524
15COL1A1NM_ 000088.3(COL1A1): c.1588G> A (p.Gly530Ser)SNVPathogenicrs67682641GRCh37Chr 17, 48271736: 48271736
16COL1A1NM_ 000088.3(COL1A1): c.3118G> A (p.Gly1040Ser)SNVPathogenicrs72653178GRCh37Chr 17, 48265980: 48265980
17COL1A1NM_ 000088.3(COL1A1): c.2515G> A (p.Gly839Ser)SNVPathogenicrs72653131GRCh37Chr 17, 48267406: 48267406
18COL1A1NM_ 000088.3(COL1A1): c.4391T> C (p.Leu1464Pro)SNVPathogenicrs72656353GRCh37Chr 17, 48262867: 48262867
19COL1A1COL1A1, 562-BP DELdeletionPathogenic
20COL1A1NM_ 000088.3(COL1A1): c.761G> A (p.Gly254Glu)SNVPathogenicrs72645320GRCh37Chr 17, 48274414: 48274414
21COL1A1NM_ 000088.3(COL1A1): c.959G> A (p.Gly320Asp)SNVLikely pathogenicrs72645353GRCh37Chr 17, 48273559: 48273559
22COL1A2NM_ 000089.3(COL1A2): c.1971+1G> ASNVPathogenicrs72658151GRCh37Chr 7, 94047144: 94047144
23COL1A2NM_ 000089.3(COL1A2): c.2099G> A (p.Gly700Asp)SNVPathogenicrs72658161GRCh37Chr 7, 94049564: 94049564
24COL1A2NM_ 000089.3(COL1A2): c.3034G> A (p.Gly1012Ser)SNVLikely pathogenicrs72659319GRCh38Chr 7, 94426459: 94426459
25COL1A2NM_ 000089.3(COL1A2): c.2957C> T (p.Pro986Leu)SNVLikely pathogenicrs768171831GRCh37Chr 7, 94055323: 94055323
26COL1A1NM_ 000088.3(COL1A1): c.472-1G> CSNVPathogenicrs72667020GRCh37Chr 17, 48275866: 48275866
27COL1A2NM_ 000089.3(COL1A2): c.1550G> A (p.Gly517Asp)SNVPathogenicrs1057516053GRCh37Chr 7, 94042441: 94042441

Expression for genes affiliated with Osteogenesis Imperfecta, Type Iii

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

Pathways for genes affiliated with Osteogenesis Imperfecta, Type Iii

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GO Terms for genes affiliated with Osteogenesis Imperfecta, Type Iii

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

idNameGO IDScoreTop Affiliating Genes
1collagen type I trimerGO:000558410.9COL1A1, COL1A2
2macromolecular complexGO:003299110.4CRTAP, P3H1, PPIB
3collagen trimerGO:000558110.4CD36, COL1A1, COL1A2, SERPINH1
4insulin-like growth factor binding protein complexGO:001694210.0IGF1, IGFBP3
5insulin-like growth factor ternary complexGO:004256710.0IGF1, IGFBP3
6endoplasmic reticulumGO:00057839.1COL1A1, COL1A2, CREB3L1, CRTAP, FKBP10, P3H1
7proteinaceous extracellular matrixGO:00055789.0BMP1, COL1A1, COL1A2, CRTAP, P3H1, WNT1
8endoplasmic reticulum lumenGO:00057888.7BGLAP, COL1A1, COL1A2, CRTAP, FKBP10, IGFBP3
9extracellular regionGO:00055768.4BGLAP, BMP1, COL1A1, COL1A2, IGF1, IGFBP3
10extracellular spaceGO:00056156.9BGLAP, BMP1, CD36, COL1A1, COL1A2, CRTAP

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

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1collagen biosynthetic processGO:003296410.8COL1A1, SERPINH1
2protein heterotrimerizationGO:007020810.7COL1A1, COL1A2
3negative regulation of cell-substrate adhesionGO:001081210.7COL1A1, WNT1
4negative regulation of post-translational protein modificationGO:190187410.6CRTAP, P3H1
5collagen fibril organizationGO:003019910.6COL1A1, COL1A2, SERPINH1
6ossificationGO:000150310.3BGLAP, BMP1, COL1A1
7collagen catabolic processGO:003057410.2COL1A1, COL1A2, PEPD
8chaperone-mediated protein foldingGO:006107710.2CRTAP, FKBP10, P3H1, PPIB
9skin morphogenesisGO:004358910.1COL1A1, COL1A2
10bone developmentGO:006034810.1BGLAP, P3H1, PPIB, WNT1
11osteoblast differentiationGO:00016499.8BGLAP, COL1A1, CREB3L1, IGFBP3
12positive regulation of insulin-like growth factor receptor signaling pathwayGO:00435689.8IGF1, IGFBP3, WNT1
13positive regulation of MAPK cascadeGO:00434109.7CD36, IGF1, IGFBP3
14protein stabilizationGO:00508219.7CRTAP, IGF1, P3H1, PPIB
15skeletal system developmentGO:00015019.0BGLAP, BMP1, COL1A1, COL1A2, IGF1

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

idNameGO IDScoreTop Affiliating Genes
1platelet-derived growth factor bindingGO:004840710.1COL1A1, COL1A2
2collagen bindingGO:000551810.0P3H1, PPIB, SERPINH1

Sources for Osteogenesis Imperfecta, Type Iii

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet