MCID: OST135
MIFTS: 51

Osteogenesis Imperfecta, Type I malady

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

Aliases & Classifications for Osteogenesis Imperfecta, Type I

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Sources:
49OMIM, 11diseasecard, 68Wikipedia, 67UniProtKB/Swiss-Prot, 51Orphanet, 45NIH Rare Diseases, 24GTR, 47Novoseek, 65UMLS, 28ICD10 via Orphanet, 34MedGen, 36MeSH
See all sources

Aliases & Descriptions for Osteogenesis Imperfecta, Type I:

Name: Osteogenesis Imperfecta, Type I 49 11
Osteogenesis Imperfecta Type 1 45 51 24
Osteogenesis Imperfecta with Blue Sclerae 45 67
Osteogenesis Imperfecta Type I 68 67
Osteogenesis Imperfecta Tarda 45 67
Van Der Hoeve Syndrome 68 51
Oi Type 1 45 51
Non-Deforming Osteogenesis Imperfecta 51
Osteopenic Non-Fracture Syndrome 67
 
Mild Osteogenesis Imperfecta 51
Osteogenesis Imperfecta 1 67
Trias Fragilitis Ossium 68
Adair-Dighton Syndrome 51
Lobstein's Disease 65
Oi, Type I 47
Oi-I 67
Oi1 67


Classifications:



Characteristics (Orphanet epidemiological data):

51
osteogenesis imperfecta type 1:
Inheritance: Autosomal dominant; Age of onset: Childhood


External Ids:

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

Summaries for Osteogenesis Imperfecta, Type I

About this section
NIH Rare Diseases:45 Osteogenesis imperfecta (oi) is a genetic disorder that mainly affects 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: 11/11/2011

MalaCards based summary: Osteogenesis Imperfecta, Type I, also known as osteogenesis imperfecta type 1, is related to osteogenesis imperfecta, type iv and osteoporosis, and has symptoms including autosomal dominant inheritance, otosclerosis and hearing impairment. 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 Cell adhesion_ECM remodeling. Affiliated tissues include bone, eye and skin.

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 Osteogenesis Imperfecta Type 1a
Osteogenesis Imperfecta Type 2a Osteogenesis Imperfecta Type 2b
Bmp1-Related Osteogenesis Imperfecta Crtap-Related Osteogenesis Imperfecta
Fkbp10-Related Osteogenesis Imperfecta Ifitm5-Related Osteogenesis Imperfecta
Lepre1-Related Osteogenesis Imperfecta Ppib-Related Osteogenesis Imperfecta
Serpinf1-Related Osteogenesis Imperfecta Serpinh1-Related Osteogenesis Imperfecta
Sp7-Related Osteogenesis Imperfecta Tmem38b-Related Osteogenesis Imperfecta
Wnt1-Related Osteogenesis Imperfecta Sparc-Related Osteogenesis Imperfecta

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

(show top 50)    (show all 55)
idRelated DiseaseScoreTop Affiliating Genes
1osteogenesis imperfecta, type iv29.8CD36, COL1A1, COL1A2, COL5A1
2osteoporosis29.6BGLAP, CD36, COL1A1, COL1A2, COL5A1
3osteogenesis imperfecta11.2
4otosclerosis10.5
5dentinogenesis imperfecta10.3
6hyper ige syndrome10.3
7vaginitis10.3
8osteogenesis imperfecta type 1a10.3
9classic non-deforming osteogenesis imperfecta with blue sclerae10.3
10ehlers-danlos syndrome10.3
11bone structure disease10.2
12osteolysis syndrome recessive10.2COL1A1, COL1A2
13classic rett syndrome10.2COL1A1, COL1A2
14congenital trigeminal anesthesia10.2COL1A1, COL1A2
15idiopathic linear interstitial keratitis10.2COL1A1, COL1A2
16col4a1-related disorders10.2COL1A1, COL1A2
17osteogenesis imperfecta, type viii10.2
18osteogenesis imperfecta, type xiii10.2
19osteogenesis imperfecta, type xiv10.2
20osteogenesis imperfecta, type v10.2
21osteogenesis imperfecta, type xv10.2
22eif4g1-related parkinson disease10.2COL1A1, COL1A2
23larsen-like syndrome10.2COL1A1, COL1A2
24splenic flexure cancer10.1COL1A1, COL1A2
25depressed scar10.1COL1A1, COL1A2
26duane retraction syndrome10.1BGLAP, COL1A1
27anodontia10.1BGLAP, COL1A2
28ectopia lentis, familial10.1CD36, COL1A2
29osteogenesis imperfecta congenita microcephaly and cataracts10.1BGLAP, CD36
30sclerosing hemangioma10.1COL1A1, COL1A2
31marcus gunn phenomenon10.1BGLAP, CD36
32scrotal carcinoma10.0COL1A1, COL1A2
33pfeiffer syndrome10.0BGLAP, COL1A1
34deafness, x-linked 610.0COL1A1, COL1A2
35familial abdominal aortic aneurysm10.0BGLAP, CD36
36pervasive developmental disorder not otherwise specified10.0CD36, COL1A1, COL1A2
37cogan-reese syndrome10.0CD36, COL1A1, COL1A2
38xanthinuria10.0CD36, COL1A1, COL1A2
39ehlers-danlos syndrome, type vi10.0COL1A1, COL5A1
40anterior cruciate ligament tears10.0BGLAP, COL1A1, COL1A2
41osteomyelitis10.0BGLAP, COL1A1, COL1A2
42lung cancer susceptibility 29.9BGLAP, CD36
43bone ewing's sarcoma9.9COL1A1, COL1A2
44pulpitis9.9COL5A1, PEPD
45ehlers-danlos syndrome, type viib9.9COL1A1, COL1A2, COL5A1
46autosomal dominant microcephaly9.9COL1A1, COL1A2, COL5A1
47colon adenocarcinoma9.8COL1A1, COL1A2, COL5A1
48ehrlichiosis9.8COL1A1, COL1A2, COL5A1
49constipation9.8COL1A1, COL1A2, COL5A1
50osteogenesis imperfecta, type ii9.7CD36, COL1A1, COL1A2, COL5A1

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 17)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 otosclerosis HP:0000362
3 hearing impairment HP:0000365
4 blue sclerae HP:0000592
5 dentinogenesis imperfecta HP:0000703
6 osteopenia HP:0000938
7 thin skin HP:0000963
8 bruising susceptibility HP:0000978
9 joint hypermobility HP:0001382
10 growth abnormality HP:0001507
11 mitral valve prolapse HP:0001634
12 aortic dilatation HP:0001724
13 wormian bones HP:0002645
14 increased susceptibility to fractures HP:0002659
15 recurrent fractures HP:0002757
16 femoral bowing HP:0002980
17 biconcave flattened vertebrae HP:0003321

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):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Busulfanapproved, investigationalPhase 148655-98-12478
Synonyms:
1, 4-Dimethanesulfonoxybutane
1, 4-Dimethylsulfonoxybutane
1, {4-Bis[methanesulfonoxy]butane}
1,4-BUTANEDIOL DIMETHANESULFONATE
1,4-Bis(methanesulfonoxy)butane
1,4-Bis(methanesulfonyloxy)butane
1,4-Bis[methanesulfonoxy]butane
1,4-Butanedi yl dimethanesulfonate
1,4-Butanediol dimethanesulfonate
1,4-Butanediol dimethanesulphonate
1,4-Butanediol dimethylsulfonate
1,4-Butanediol, dimethanesulfonate
1,4-Butanediol, dimethanesulphonate
1,4-Butanediyl dimethanesulfonate
1,4-Di(methylsulfonoxy)butane
1,4-Dimesyloxybutane
1,4-Dimethane sulfonyl oxybutane
1,4-Dimethanesulfonoxybutane
1,4-Dimethanesulfonoxylbutane
1,4-Dimethanesulfonyloxybutane
1,4-Dimethanesulphonyloxybutane
1,4-Dimethylsulfonoxybutane
1,4-Dimethylsulfonyloxybutane
2041 C. B
2041 C. B.
2041 C.B
2041 C.B.
4-((Methylsulfonyl)oxy)butyl methanesulfonate
4-methylsulfonyloxybutyl methanesulfonate
55-98-1
AC-198
AC1L1DRQ
AC1Q4GRQ
AI3-25012
AKOS003614975
AN 33501
Ambap55-98-1
B1022
B2635_FLUKA
B2635_SIGMA
BRN 1791786
BSPBio_001920
BUSULFAN (1,4-BUTANEDIOL, DIMETHANESULFONATE)
Bisulfex
Busilvex
Busulfan
Busulfan (JP15/USP/INN)
Busulfan GlaxoSmithKline Brand
Busulfan Orphan Brand
Busulfan Wellcome
Busulfan Wellcome Brand
Busulfan [INN:JAN]
Busulfano
Busulfano [INN-Spanish]
Busulfanum
Busulfanum [INN-Latin]
Busulfex
Busulphan
Busulphane
Butanedioldimethanesulfonate
Buzulfan
C.B. 2041
C6H14O6S2
CB 2041
CCRIS 418
CHEBI:28901
CHEMBL820
CID2478
CPD000058613
Citosulfan
D002066
D00248
DB01008
DivK1c_000847
EINECS 200-250-2
FT-0083567
G.T. 41
GT 2041
GT 41
Glaxo Wellcome Brand of Busulfan
GlaxoSmithKline Brand of Busulfan
Glyzophrol
HMS1920I07
HMS2091O09
HMS502K09
 
HSDB 7605
I09-1371
IDI1_000847
InChI=1/C6H14O6S2/c1-13(7,8)11-5-3-4-6-12-14(2,9)10/h3-6H2,1-2H3
KBio1_000847
KBio2_000512
KBio2_003080
KBio2_005648
KBio3_001420
KBioGR_000698
KBioSS_000512
LS-1358
Leucosulfan
MLS001076666
MYLERAN (TN)
Mablin
Methanesulfonic
Methanesulfonic acid, tetram ethylene ester
Methanesulfonic acid, tetramethylene ester
Mielevcin
Mielosan
Mielucin
Milecitan
Mileran
Misulban
Mitosan
Mitostan
MolPort-001-783-406
Myeleukon
Myeloleukon
Myelosan
Myelosanum
Mylecytan
Myleran
Myleran Tablets
Myleran tablets
Myleran, Busulfex, Busulfan
Mylerlan
NCGC00090905-01
NCGC00090905-02
NCGC00090905-03
NCGC00090905-04
NCGC00090905-05
NCGC00090905-06
NCGC00090905-07
NCI-C01592
NCI60_041640
NCIMech_000192
NINDS_000847
NSC 750
NSC-750
NSC-750sulphabutin
NSC750
Orphan Brand of Busulfan
Prestwick_989
S1692_Selleck
SAM002554887
SMR000058613
SPBio_000253
SPECTRUM1500152
ST50825921
Spectrum2_000067
Spectrum3_000320
Spectrum4_000259
Spectrum5_000928
Spectrum_000092
Sulfabutin
Sulfabutin (VAN)
Sulphabutin
Tetramethylene Dimethane Sulfonate
Tetramethylene bis(methanesulfonate)
Tetramethylene bis[methanesulfonate]
Tetramethylene dimethane sulfonate
Tetramethylene {bis[methanesulfonate]}
Tetramethylenester Kyseliny Methansulfonove
Tetramethylenester kyseliny methansulfonove
Tetramethylenester kyseliny methansulfonove [Czech]
UNII-G1LN9045DK
WLN: WS1&O4OSW1
Wellcome Brand of Busulfan
Wellcome, Busulfan
X 149
acid, tetramethylene ester
alkylating agent: crosslinks guanine residues
busulfan
butane-1,4-diyl dimethanesulfonate
n-Butane-1,3-di(methylsulfonate)
2
Cyclophosphamideapproved, investigationalPhase 1252550-18-0, 6055-19-22907
Synonyms:
(+-)-Cyclophosphamide
(-)-Cyclophosphamide
(RS)-Cyclophosphamide
1-(bis(2-chloroethyl)amino)-1-oxo-2-aza-5-oxaphosphoridine
1-Bis(2-chloroethyl)amino-1-oxo-2-aza-5-oxaphosphoridin
2-[Bis(2-chloroethylamino)]-tetrahydro-2H-1,3,2-oxazaphosphorine-2-oxide
4-Hydroxy-cyclophosphan-mamophosphatide
50-18-0
60007-95-6
6055-19-2 (monohydrate)
75526-90-8
AC1L1EQQ
AI3-26198
ASTA
ASTA B518
Asta B 518
B 518
B-518
BRN 0011744
BSPBio_002099
Bis(2-chloroethyl)phosphoramide cyclic propanolamide ester
C 0768
C07888
C7H15Cl2N2O2P
CB 4564
CB-4564
CCRIS 188
CHEBI:4027
CHEMBL32520
CHEMBL88
CID2907
CP
CPA
CTX
CY
Ciclofosfamida
Ciclofosfamida [INN-Spanish]
Ciclofosfamide
Ciclophosphamide
Ciclophosphamide [INN]
Clafen
Claphene
Cycloblastin
Cyclophosphamid
Cyclophosphamide
Cyclophosphamide (INN)
Cyclophosphamide (TN)
Cyclophosphamide (anhydrous form)
Cyclophosphamide (anhydrous)
Cyclophosphamide Monohydrate
Cyclophosphamide Sterile
Cyclophosphamide anhydrous
Cyclophosphamide, (+-)-Isomer
Cyclophosphamides
Cyclophosphamidum
Cyclophosphamidum [INN-Latin]
Cyclophosphan
Cyclophosphane
Cyclophosphanum
Cyclophosphoramide
Cyclostin
Cyklofosfamid
Cyklofosfamid [Czech]
Cytophosphan
Cytophosphane
Cytoxan
Cytoxan (TN)
Cytoxan Lyoph
D,L-Cyclophosphamide
D07760
DB00531
 
DivK1c_000246
EINECS 200-015-4
EU-0100238
Endoxan
Endoxan R
Endoxan-Asta
Endoxana
Endoxanal
Endoxane
Enduxan
Genoxal
HMS2090A12
HSDB 3047
Hexadrin
IDI1_000246
KBio1_000246
KBio2_001338
KBio2_003906
KBio2_006474
KBio3_001319
KBioGR_000888
KBioSS_001338
LS-1302
LS-99787
Ledoxina
Lopac-C-0768
Lopac0_000238
Lyophilized Cytoxan
Mitoxan
MolPort-001-783-420
N,N-Bis(2-chloroethyl)-1,3,2-oxazaphosphinan-2-amine 2-oxide
N,N-Bis(2-chloroethyl)tetrahydro-2H-1,3,2-oxazaphosphorin-2-amine 2-oxide
NCGC00015209-01
NCGC00015209-03
NCGC00015209-06
NCGC00091741-02
NCGC00091741-03
NCI-C04900
NCI60_002097
NINDS_000246
NSC 26271
NSC-26271
NSC26271
NSC273033
NSC273034
Neosar
Occupation, cyclophosphamide exposure
Procytox
RCRA waste no. U058
Rcra Waste Number U058
Rcra waste number U058
Revimmune
S1217_Selleck
SK 20501
SPBio_001071
STK177249
STOCK2S-91217
Semdoxan
Sendoxan
Senduxan
Spectrum2_001146
Spectrum3_000370
Spectrum4_000304
Spectrum5_000795
Spectrum_000858
UNII-6UXW23996M
WLN: T6MPOTJ BO BN2G2G
Zyklophosphamid
Zyklophosphamid [German]
bis(2-Chloroethyl)phosphami de cyclic propanolamide
bis(2-Chloroethyl)phosphamide cyclic propanolamide ester
cyclophosphamide
3CyclosporinsPhase 1849

Interventional clinical trials:

idNameStatusNCT IDPhase
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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Genetic tests related to Osteogenesis Imperfecta, Type I:

id Genetic test Affiliating Genes
1 Osteogenesis Imperfecta Type I24

Anatomical Context for Osteogenesis Imperfecta, Type I

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

33
Bone, Eye, Skin, Testes, Bone marrow

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

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
Osteogenesis imperfecta Type I caused by a novel mutation in the start codon of the COL1A1 gene in a Korean family. (25696019)
2015
2
Osteogenesis Imperfecta Type I Caused by COL1A1 Deletions. (26478226)
2015
3
Validity of an accelerometer as a vertical ground reaction force measuring device in healthy children and adolescents and in children and adolescents with osteogenesis imperfecta type I. (24879019)
2014
4
Osteogenesis imperfecta type I: A case report. (24926339)
2014
5
A novel mild variant of osteogenesis imperfecta type I caused by a Gly1088Glu mutation in COL1A1. (24682174)
2014
6
Teriparatide treatment in adult patients with osteogenesis imperfecta type I. (23907723)
2013
7
Mineral particle size in children with osteogenesis imperfecta type I is not increased independently of specific collagen mutations. (24296239)
2013
8
Eleven years of experience with bisphosphonate plus alfacalcidol treatment in a man with osteogenesis imperfecta type I. (23293527)
2013
9
Muscle Anatomy and Dynamic Muscle Function in Osteogenesis Imperfecta Type I. (24248189)
2013
10
Osteogenesis imperfecta type I: second-trimester diagnosis and incidental identification of a dominant COL1A1 deletion mutation in the paucisymptomatic father. (22795108)
2012
11
Uncomplicated vaginal delivery in two consecutive pregnancies carried to term in a woman with osteogenesis imperfecta type I and bisphosphonate treatment before conception. (22795118)
2012
12
Risedronate in adults with osteogenesis imperfecta type I: increased bone mineral density and decreased bone turnover, but high fracture rate persists. (21739105)
2012
13
Bone geometry, density, and microarchitecture in the distal radius and tibia in adults with osteogenesis imperfecta type I assessed by high-resolution pQCT. (22407910)
2012
14
An unusual presentation of osteogenesis imperfecta type I. (23754901)
2011
15
Ebstein's anomaly in a child with osteogenesis imperfecta type I. (22461818)
2011
16
25-gauge sutureless vitrectomy in osteogenesis imperfecta type I. (25389586)
2009
17
Molecular diagnosis of a Chinese pedigree with osteogenesis imperfecta type I]. (19199251)
2009
18
Femoral artery thrombosis after internal fixation of a transverse acetabular fracture in a patient with osteogenesis imperfecta type I. (18271949)
2008
19
Molecular diagnosis of osteogenesis imperfecta type I]. (19145934)
2008
20
A novel RNA-splicing mutation in COL1A1 gene causing osteogenesis imperfecta type I in a Chinese family. (18755172)
2008
21
Stimulation of collagen biosynthesis by flavonoid glycosides in skin fibroblasts of osteogenesis imperfecta type I and the potential mechanism of their action. (17982699)
2007
22
Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV. (16786509)
2006
23
Single-dose pharmacokinetics and tolerability of alendronate 35- and 70-milligram tablets in children and adolescents with osteogenesis imperfecta type I. (15827104)
2005
24
Gene symbol: COL1A1. Disease: Osteogenesis imperfecta type I. (15046069)
2004
25
Cardiopulmonary fitness and muscle strength in patients with osteogenesis imperfecta type I. (15580207)
2004
26
Effect of treatment with alendronate in osteogenesis imperfecta type I: a case report. (15647630)
2004
27
Effects of treatment with etidronate and alfacalcidol for osteogenesis imperfecta type I: a case report. (12665966)
2003
28
Hypercalciuria in osteogenesis imperfecta type I. (14520592)
2003
29
Increased bone resorption with decreased activity and increased recruitment of osteoblasts in osteogenesis imperfecta type I. (11984701)
2002
30
Thirty-three novel COL1A1 and COL1A2 mutations in patients with osteogenesis imperfecta types I-IV. (11317364)
2001
31
Two pregnancies after preimplantation genetic diagnosis for osteogenesis imperfecta type I and type IV. (10942108)
2000
32
Nonsense mutations in the COL1A1 gene preferentially reduce nuclear levels of mRNA but not hnRNA in osteogenesis imperfecta type I cell strains. (10686420)
2000
33
Prenatal diagnosis of a novel COL1A1 mutation in osteogenesis imperfecta type I carried through full term pregnancy. (11113887)
2000
34
Bone density measurements by computed tomography in osteogenesis imperfecta type I. (10550462)
1999
35
Prenatal diagnosis of osteogenesis imperfecta type I by COL1A1 null-allele testing. (10521849)
1999
36
Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: identification of common sequences of null-allele mutations. (9443882)
1998
37
A four base pair insertion polymorphism in the 3' untranslated region of the COL1A1 gene is highly informative for null-allele testing in patients with osteogenesis imperfecta type I. (9503369)
1998
38
Hearing loss (in nonoperated ears) in relation to age in osteogenesis imperfecta type I. (9228859)
1997
39
Premature chain termination is a unifying mechanism for COL1A1 null alleles in osteogenesis imperfecta type I cell strains. (8808594)
1996
40
Scanning electron microscopy of teeth in osteogenesis imperfecta type I. (8734703)
1996
41
Absence of mutations in the promoter of the COL1A1 gene of type I collagen in patients with osteogenesis imperfecta type I. (8544188)
1995
42
Osteogenesis imperfecta type I: molecular heterogeneity for COL1A1 null alleles of type I collagen. (7942841)
1994
43
Molecular heterogeneity in osteogenesis imperfecta type I. (8456806)
1993
44
Osteogenesis imperfecta type I is commonly due to a COL1A1 null allele of type I collagen. (1353940)
1992
45
Clinical and genetic aspects in autosomal dominant inherited osteogenesis imperfecta type I. (1952595)
1991
46
Frameshift mutation near the 3' end of the COL1A1 gene of type I collagen predicts an elongated Pro alpha 1(I) chain and results in osteogenesis imperfecta type I. (2295701)
1990
47
Osteogenesis imperfecta type I with unusual dental abnormalities. (3239581)
1988
48
Mutations linked to the pro alpha 2(I) collagen gene are responsible for several cases of osteogenesis imperfecta type I. (3023615)
1986
49
Collagen defect of bone in osteogenesis imperfecta (Type I). An electron microscopic study. (6697589)
1984
50
Heterogeneity of osteogenesis imperfecta type I. (6876111)
1983

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 pathogenicrs797045033GRCh38Chr 17, 50189239: 50189239

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

(show all 17)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7COL1A1, COL1A2
29.7COL1A1, COL1A2
39.7COL1A1, COL1A2
49.7COL1A1, COL1A2
59.7COL1A1, COL1A2
69.6BGLAP, COL1A1
79.5BGLAP, COL1A2
89.2COL1A1, COL1A2, COL5A1
9
Show member pathways
9.2COL1A1, COL1A2, COL5A1
10
Show member pathways
9.2COL1A1, COL1A2, COL5A1
119.2COL1A1, COL1A2, COL5A1
129.2COL1A1, COL1A2, COL5A1
139.2COL1A1, COL1A2, COL5A1
149.2CD36, COL1A1, COL1A2
15
Show member pathways
9.2CD36, COL1A1, COL1A2
169.2BGLAP, COL1A1, COL1A2
17
Show member pathways
8.7CD36, COL1A1, COL1A2, COL5A1

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:000558410.4COL1A1, COL1A2
2collagen trimerGO:00055819.2COL1A1, COL1A2, COL5A1
3endoplasmic reticulum lumenGO:00057889.1COL1A1, COL1A2, COL5A1
4extracellular matrixGO:00310128.9COL1A1, COL1A2, COL5A1
5extracellular spaceGO:00056158.6BGLAP, CD36, COL1A1, COL1A2

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

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1skin morphogenesisGO:004358910.4COL1A1, COL1A2
2collagen biosynthetic processGO:003296410.2COL1A1, COL5A1
3protein heterotrimerizationGO:007020810.2COL1A1, COL1A2
4odontogenesisGO:004247610.1BGLAP, COL1A2
5response to nutrient levelsGO:003166710.0BGLAP, COL1A1
6skin developmentGO:004358810.0COL1A1, COL5A1
7cellular response to amino acid stimulusGO:007123010.0COL1A1, COL1A2
8ossificationGO:000150310.0BGLAP, COL1A1
9response to mechanical stimulusGO:000961210.0BGLAP, COL1A1
10blood vessel developmentGO:00015689.6COL1A1, COL1A2, COL5A1
11collagen fibril organizationGO:00301999.6COL1A1, COL1A2, COL5A1
12skeletal system developmentGO:00015019.6BGLAP, COL1A1, COL1A2
13extracellular matrix disassemblyGO:00226179.6COL1A1, COL1A2, COL5A1
14receptor-mediated endocytosisGO:00068989.5CD36, COL1A1, COL1A2
15extracellular matrix organizationGO:00301989.2COL1A1, COL1A2, COL5A1
16blood coagulationGO:00075969.1CD36, COL1A1, COL1A2
17platelet activationGO:00301688.9CD36, COL1A1, COL1A2
18collagen catabolic processGO:00305748.7COL1A1, COL1A2, COL5A1, PEPD

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

idNameGO IDScoreTop Affiliating Genes
1platelet-derived growth factor bindingGO:00484079.2COL1A1, COL1A2, COL5A1
2extracellular matrix structural constituentGO:00052018.9COL1A1, COL1A2, COL5A1

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