MCID: OST135
MIFTS: 53

Osteogenesis Imperfecta, Type I malady

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

Aliases & Classifications for Osteogenesis Imperfecta, Type I

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Aliases & Descriptions for Osteogenesis Imperfecta, Type I:

Name: Osteogenesis Imperfecta, Type I 49 11
Osteogenesis Imperfecta Type I 68 45 67
Van Der Hoeve Syndrome 68 45 51
Osteogenesis Imperfecta with Blue Sclerae 45 67
Non-Deforming Osteogenesis Imperfecta 45 51
Osteogenesis Imperfecta Tarda 45 67
Mild Osteogenesis Imperfecta 45 51
Osteogenesis Imperfecta 1 67 24
Adair-Dighton Syndrome 45 51
 
Oi Type 1 45 51
Classic Non-Deforming Oi with Blue Sclerae 45
Osteopenic Non-Fracture Syndrome 67
Osteogenesis Imperfecta Type 1 51
Trias Fragilitis Ossium 68
Lobstein's Disease 65
Oi, Type I 67
Oi-I 67
Oi1 67

Characteristics:

Orphanet epidemiological data:

51
van der hoeve syndrome:
Inheritance: Autosomal dominant; Age of onset: Childhood

HPO:

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


Classifications:



External Ids:

OMIM49 166200
Orphanet51 216796
ICD10 via Orphanet28 Q78.0
MeSH36 D010013

Summaries for Osteogenesis Imperfecta, Type I

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NIH Rare Diseases:45 Osteogenesis imperfecta (oi) is a group of genetic disorders that mainly affect the bones. osteogenesis imperfecta type 1 is the mildest form of oi and is characterized by bone fractures during childhood and adolescence that often result from minor trauma. fractures occur less frequently in adulthood. people with mild forms of the condition typically have a blue or grey tint to the part of the eye that is usually white (the sclera), and may develop hearing loss in adulthood. affected individuals are usually of normal or near normal height. most of the mutations that cause osteogenesis imperfecta type 1 occur in the col1a1 gene. these genetic changes reduce the amount of type i collagen produced in the body, which causes bones to be brittle and to fracture easily. oi type 1 exhibits an autosomal dominant pattern of inheritance. last updated: 12/2/2015

MalaCards based summary: Osteogenesis Imperfecta, Type I, also known as osteogenesis imperfecta type i, is related to classic non-deforming osteogenesis imperfecta with blue sclerae and prostate cancer, and has symptoms including biconcave flattened vertebrae, femoral bowing and recurrent fractures. An important gene associated with Osteogenesis Imperfecta, Type I is COL1A1 (Collagen Type I Alpha 1), and among its related pathways are Cell adhesion_Endothelial cell contacts by non-junctional mechanisms and Protein digestion and absorption. Affiliated tissues include bone, eye and bone marrow, and related mouse phenotype adipose tissue.

OMIM:49 Osteogenesis imperfecta type I is a dominantly inherited, generalized connective tissue disorder characterized mainly... (166200) more...

UniProtKB/Swiss-Prot:67 Osteogenesis imperfecta 1: 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. OI1 is a non-deforming form with normal height or mild short stature, and no dentinogenesis imperfecta.

Related Diseases for Osteogenesis Imperfecta, Type I

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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 I via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 77)
idRelated DiseaseScoreTop Affiliating Genes
1classic non-deforming osteogenesis imperfecta with blue sclerae11.6
2prostate cancer10.3
3brain injury10.3
4traumatic brain injury10.3
5prostatitis10.3
6cerebritis10.3
7hiv-110.2
8leukemia10.2
9malignant mesenchymal tumor10.2
10plasma cell leukemia10.2
11splenomegaly10.2
12angiomatosis10.2
13congenital trigeminal anesthesia10.2COL1A1, COL1A2
14rheumatoid arthritis10.2
15colorectal cancer10.2
16hepatocellular carcinoma10.2
17alveolar soft-part sarcoma10.2
18arthritis10.2
19myasthenia gravis10.2
20restless legs syndrome10.2
21brugada syndrome10.2
22spotted fever10.2
23sarcoma10.2
24clubfoot10.2
25hypertrophic cardiomyopathy10.2
26endogenous depression10.2
27adenocarcinoma10.2
28gingivitis10.2
29retinitis10.2
30situs inversus10.2
31neuronitis10.2
32periodic limb movement disorder10.2
33intracranial hypertension10.2
34babesiosis10.2
35esotropia10.2
36left-sided gallbladder10.2
37nephrogenic systemic fibrosis10.2
38urachal cyst10.2
39cardiomyopathy10.2
40sudden cardiac death10.2
41ataxia10.2
42cerebral hypoxia10.2
43hypoxia10.2
44subacute sclerosing leukoencephalitis10.2
45endotheliitis10.2
46renal hypoplasia10.2
47col4a1-related disorders10.2COL1A1, COL1A2
48idiopathic linear interstitial keratitis10.1COL1A1, COL1A2
49eif4g1-related parkinson disease10.1COL1A1, COL1A2
50osteogenesis imperfecta, type iv10.1COL1A1, COL1A2

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



Diseases related to osteogenesis imperfecta, type i

Symptoms for Osteogenesis Imperfecta, Type I

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Symptoms by clinical synopsis from OMIM:

166200

Clinical features from OMIM:

166200

HPO human phenotypes related to Osteogenesis Imperfecta, Type I:

(show all 16)
id Description Frequency HPO Source Accession
1 biconcave flattened vertebrae HP:0003321
2 femoral bowing HP:0002980
3 recurrent fractures HP:0002757
4 increased susceptibility to fractures HP:0002659
5 wormian bones HP:0002645
6 aortic dilatation HP:0001724
7 mitral valve prolapse HP:0001634
8 growth abnormality HP:0001507
9 joint hypermobility HP:0001382
10 bruising susceptibility HP:0000978
11 thin skin HP:0000963
12 osteopenia HP:0000938
13 dentinogenesis imperfecta HP:0000703
14 blue sclerae HP:0000592
15 hearing impairment HP:0000365
16 otosclerosis HP:0000362

Drugs & Therapeutics for Osteogenesis Imperfecta, Type I

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

(show all 6)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Hormone AntagonistsPhase 310002
2Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 39988
3HormonesPhase 311748
4
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
5
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)
6CyclosporinsPhase 1873

Interventional clinical trials:

idNameStatusNCT IDPhase
1Growth Hormone Therapy in Osteogenesis ImperfectaActive, not recruitingNCT00001305Phase 3
2Treatment of Severe Osteogenesis Imperfecta by Allogeneic Bone Marrow TransplantationCompletedNCT00705120Phase 1
3BBD Longitudinal Study of Osteogenesis ImperfectaRecruitingNCT02432625
4Urinary Biomarkers of OI PathobiologyRecruitingNCT02531087

Search NIH Clinical Center for Osteogenesis Imperfecta, Type I

Genetic Tests for Osteogenesis Imperfecta, Type I

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Anatomical Context for Osteogenesis Imperfecta, Type I

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

33
Bone, Eye, Bone marrow, Skin, Lung, Thyroid, T cells

Animal Models for Osteogenesis Imperfecta, Type I or affiliated genes

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MGI Mouse Phenotypes related to Osteogenesis Imperfecta, Type I:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053758.9CD36, COL1A1, COL1A2

Publications for Osteogenesis Imperfecta, Type I

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Articles related to Osteogenesis Imperfecta, Type I:

(show top 50)    (show all 51)
idTitleAuthorsYear
1
Discrimination of tonal and atonal music in congenital amusia: The advantage of implicit tasks. (26944873)
2016
2
How does rhinovirus cause the common cold cough? (26835135)
2016
3
Guided Growth of the Proximal Femur for Hip Displacement in Children With Cerebral Palsy. (25887815)
2015
4
Hepatic lipase deficiency produces glucose intolerance, inflammation and hepatic steatosis. (26423094)
2015
5
Polymorphism in the transcription factor 7-like 2 (TCF7L2) gene is associated with impaired proinsulin conversion--A meta-analysis. (25934528)
2015
6
5,10-Methylenetetrahydrofolate reductase single nucleotide polymorphisms and gene-environment interaction analysis in non-syndromic cleft lip/palate. (24460828)
2014
7
Critique and appraisal of a study on sex disparities in systemic lupus erythematosus. (24248805)
2013
8
Outcomes of patients with metastatic clear-cell renal cell carcinoma treated with pazopanib after disease progression with other targeted therapies. (23810246)
2013
9
Clinical treatment of myasthenia gravis with deficiency of spleen and kidney based on combination of disease with syndrome theory. (24187863)
2013
10
An intronic variant associated with systemic lupus erythematosus changes the binding affinity of Yinyang1 to downregulate WDFY4. (22972472)
2012
11
Chk1 phosphorylation of Metnase enhances DNA repair but inhibits replication fork restart. (22231448)
2012
12
New insights into Dok-4 PTB domain structure and function. (22982678)
2012
13
Romance of the three kingdoms: RORgammat allies with HIF1alpha against FoxP3 in regulating T cell metabolism and differentiation. (22058032)
2011
14
Anti-CADM-140 antibody-positive juvenile dermatomyositis with rapidly progressive interstitial lung disease and cardiac involvement. (21532064)
2011
15
Interleukin-5 and IL-5 receptor in health and diseases. (21986312)
2011
16
Vasculitis, vitiligo, thyroiditis, and altered hormone levels after anti-tumor necrosis factor therapy. (21362795)
2011
17
Depletion of Ku70/80 reduces the levels of extrachromosomal telomeric circles and inhibits proliferation of ALT cells. (21512205)
2011
18
Long-term clinical outcome and carrier phenotype in autosomal recessive hypophosphatemia caused by a novel DMP1 mutation. (20499351)
2010
19
Familial hyperaldosteronism type 1 in pregnancy. (19356193)
2009
20
The T244I variant of the interleukin-7 receptor-alpha gene and multiple sclerosis. (18721276)
2008
21
Circulating leptin and ghrelin are differentially influenced by estrogen/progestin therapy and raloxifene. (18164562)
2008
22
Eosinophilic fasciitis in a female child. (18489052)
2008
23
Protective effects of isothiocyanates alone or in combination with vitamin C towards N-nitrosodibutylamine or N-nitrosopiperidine-induced oxidative DNA damage in the single-cell gel electrophoresis (SCGE)/HepG2 assay. (17582584)
2008
24
Functional genomic studies of uropathogenic Escherichia coli and host urothelial cells when intracellular bacterial communities are assembled. (17504765)
2007
25
Influence of drotrecogin alpha (activated) infusion on the variation of Bax/Bcl-2 and Bax/Bcl-xl ratios in circulating mononuclear cells: a cohort study in septic shock patients. (17133181)
2007
26
Dissection of the hyperadhesive phenotype of airway eosinophils in asthma. (16601240)
2006
27
Human CC chemokine CCL23 enhances expression of matrix metalloproteinase-2 and invasion of vascular endothelial cells. (16378600)
2006
28
Radiologic evaluation of lacrimal and orbital disease. (16982252)
2006
29
Disseminated intravascular coagulation in an ambulatory young woman. (16131459)
2005
30
Lymphocytic pneumonitis as the manifestation of acute graft-versus-host disease of the lung. (15929116)
2005
31
Express of transforming growth factor alpha and beta1 in cholesteatoma tissue]. (16874966)
2005
32
Abnormal T-cell function in B-cell chronic lymphocytic leukaemia. (12688308)
2003
33
Cardiac disease in the antiphospholipid syndrome: recommendations for treatment. Committee consensus report. (12892391)
2003
34
Determinants of disclosure of genital herpes to partners. (12576613)
2003
35
Isolation, structural characterization, and antiviral activity of positional isomers of monopegylated interferon alpha-2a (PEGASYS). (12821324)
2003
36
Human lactoferrin: a novel therapeutic with broad spectrum potential. (11697537)
2001
37
Oral proliferative verrucous leukoplakia (PVL); open trial of surgery compared with combined therapy using surgery and methisoprinol in papillomavirus-related PVL. (11518355)
2001
38
Gln368STOP myocilin mutation in families with late-onset primary open-angle glaucoma. (9804137)
1998
39
Hydrogen peroxide as a potent activator of T lymphocyte functions. (7843227)
1995
40
Transformation of mucosal secretory elements in chronic maxillary sinusitis after endoscopic sinus surgery. (8203810)
1994
41
Costimulation with integrin ligands intercellular adhesion molecule-1 or vascular cell adhesion molecule-1 augments activation-induced death of antigen-specific CD4+ T lymphocytes. (7689606)
1993
42
Intestinal calcium transport: the cellular pathway. (2250626)
1990
43
Quantification of the relation between electrophysiologic and morphologic changes in experimental endolymphatic hydrops. (2369040)
1990
44
Effectiveness of intrathoracic chemothermotherapy for malignant pleurisy due to Ewing's sarcoma: a case report. (2286794)
1990
45
Epidermal growth factor (EGF) receptors in human chorionic gonadotropin-producing tumor: transplantation in nude mice and the effect of EGF on tumor growth. (2380332)
1990
46
Ventilation-perfusion scan in the acutely ill patient with unilateral hyperlucent lung. (3335918)
1988
47
Tinea capitis: current concepts. (3991378)
1985
48
A new operation for symptomatic aberrant right subclavian artery in the adult (dysphagia lusoria). (5764134)
1969
49
Aniseikonia and magnification in ophthalmic lenses. Problems and solutions. (5223539)
1966
50
Thyroid crisis associated with diabetic coma. (14806771)
1951

Variations for Osteogenesis Imperfecta, Type I

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

67 (show all 26)
id Symbol AA change Variation ID SNP ID
1COL1A1p.Gly221CysVAR_001644
2COL1A1p.Gly224CysVAR_001645
3COL1A1p.Gly263ArgVAR_001646
4COL1A1p.Gly263ValVAR_001647
5COL1A1p.Gly272CysVAR_001648
6COL1A1p.Gly1079SerVAR_001714
7COL1A1p.Gly1195CysVAR_001731
8COL1A1p.Gly194ArgVAR_063292
9COL1A1p.Gly200ValVAR_063294
10COL1A1p.Gly266GluVAR_063298
11COL1A1p.Gly287SerVAR_063299
12COL1A1p.Gly320ValVAR_063302
13COL1A1p.Val349PheVAR_063304
14COL1A1p.Pro555ArgVAR_063313
15COL1A1p.Gly647SerVAR_063319
16COL1A1p.Gly722SerVAR_063321
17COL1A1p.Gly1157AspVAR_063338
18COL1A1p.Asp1219GluVAR_063339
19COL1A2p.Gly211AspVAR_001852
20COL1A2p.Gly328SerVAR_001855
21COL1A2p.Gly736CysVAR_001879
22COL1A2p.Gly835SerVAR_001890
23COL1A2p.Gly247ArgVAR_063346
24COL1A2p.Gly319ArgVAR_063350
25COL1A2p.Gly733CysVAR_063363
26COL1A2p.Cys1195TyrVAR_063383

Clinvar genetic disease variations for Osteogenesis Imperfecta, Type I:

5
id Gene Variation Type Significance SNP ID Assembly Location
1COL1A1NM_000088.3(COL1A1): c.814G> T (p.Gly272Cys)single nucleotide variantPathogenicrs72645331GRCh37Chr 17, 48274022: 48274022
2COL1A1NM_000088.3(COL1A1): c.4358_4362delAATTC (p.Glu1453Glyfs)deletionPathogenicrs72656352GRCh37Chr 17, 48262896: 48262900
3COL1A1NM_000088.3(COL1A1): c.1066G> T (p.Gly356Cys)single nucleotide variantPathogenicrs72645365GRCh37Chr 17, 48273017: 48273017
4COL1A1NM_000088.3(COL1A1): c.3235G> A (p.Gly1079Ser)single nucleotide variantPathogenicrs72654802GRCh37Chr 17, 48265483: 48265483
5COL1A1COL1A1, IVS26DS, G-A, +1single nucleotide variantPathogenic
6COL1A1NM_000088.3(COL1A1): c.3421C> T (p.Arg1141Ter)single nucleotide variantPathogenicrs72656314GRCh37Chr 17, 48264847: 48264847
7COL1A1COL1A1, IVS19DS, G-C, +1single nucleotide variantPathogenic
8COL1A1NM_000088.3(COL1A1): c.91C> T (p.Gln31Ter)single nucleotide variantPathogenicrs794726873GRCh37Chr 17, 48278784: 48278784
9COL1A1NM_000088.3(COL1A1): c.2866G> A (p.Gly956Arg)single nucleotide variantLikely pathogenicrs797045033GRCh37Chr 17, 48266600: 48266600

Expression for genes affiliated with Osteogenesis Imperfecta, Type I

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

Pathways for genes affiliated with Osteogenesis Imperfecta, Type I

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GO Terms for genes affiliated with Osteogenesis Imperfecta, Type I

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

idNameGO IDScoreTop Affiliating Genes
1collagen type I trimerGO:00055849.5COL1A1, COL1A2

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1response to mechanical stimulusGO:00096129.9BGLAP, COL1A1
2ossificationGO:00015039.8BGLAP, COL1A1
3collagen catabolic processGO:00305749.7COL1A1, COL1A2
4cellular response to amino acid stimulusGO:00712309.6COL1A1, COL1A2
5extracellular matrix disassemblyGO:00226179.5COL1A1, COL1A2
6receptor-mediated endocytosisGO:00068989.4CD36, COL1A1
7leukocyte migrationGO:00509009.4COL1A1, COL1A2
8skin morphogenesisGO:00435899.2COL1A1, COL1A2
9platelet activationGO:00301689.2CD36, COL1A1, COL1A2
10blood coagulationGO:00075969.2CD36, COL1A1, COL1A2

Sources for Osteogenesis Imperfecta, Type I

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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