MCID: OST026
MIFTS: 55

Osteogenesis Imperfecta Type I malady

Bone, Fetal categories

Summaries for Osteogenesis Imperfecta Type I

Sources:
43NIH Rare Diseases, 47OMIM, 33MalaCards
See all sources

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NIH Rare Diseases:43 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: Osteogenesis Imperfecta Type I, also known as osteogenesis imperfecta type 1, is related to osteogenesis imperfecta and osteogenesis imperfecta type iii. An important gene associated with Osteogenesis Imperfecta Type I is COL1A1 (collagen, type I, alpha 1), and among its related pathways are IL4-mediated signaling events and Cell adhesion Endothelial cell contacts by non-junctional mechanisms. The drugs calcitonin and salmon calcitonin and the compounds Collagenase and nppa have been mentioned in the context of this disorder. Affiliated tissues include skin, uterus and bone marrow, and related mouse phenotypes are limbs/digits/tail and skeleton.

Description from OMIM:47 166200,166230

Aliases & Classifications for Osteogenesis Imperfecta Type I

Sources:
64Wikipedia, 43NIH Rare Diseases, 22GTR, 47OMIM, 45Novoseek, 49Orphanet, 61UMLS, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Bone


Characteristics (Orphanet epidemiological data):

49
osteogenesis imperfecta type 1:
Inheritance: Autosomal dominant; Age of onset: Childhood


Aliases & Descriptions:

osteogenesis imperfecta type i 64
osteogenesis imperfecta type 1 43 22 49
van der hoeve syndrome 64 49
oi type 1 43 49
osteogenesis imperfecta with blue sclerae 43
non-deforming osteogenesis imperfecta 49
osteogenesis imperfecta, type i 47
osteogenesis imperfecta tarda 43
mild osteogenesis imperfecta 49
osteogenesis imperfecta 61
trias fragilitis ossium 64
adair-dighton syndrome 49
lobstein's disease 61
oi, type i 45


External Ids:

ICD10 via Orphanet26 Q78.0
SNOMED-CT via Orphanet58 385482004

Related Diseases for Osteogenesis Imperfecta Type I

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the osteogenesis imperfecta family:

osteogenesis imperfecta type iii osteogenesis imperfecta type i
osteogenesis imperfecta type 9 osteogenesis imperfecta type 1a
osteogenesis imperfecta type 2a osteogenesis imperfecta type 2b
osteogenesis imperfecta type 4 osteogenesis imperfecta type 5
osteogenesis imperfecta type 6 osteogenesis imperfecta type 7
osteogenesis imperfecta type 8 sp7-related osteogenesis imperfecta
osteogenesis imperfecta type xi osteogenesis imperfecta type x
osteogenesis imperfecta type xii osteogenesis imperfecta type xiii
osteogenesis imperfecta, type ii osteogenesis imperfecta, type xiv
osteogenesis imperfecta, type xv

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

(show top 50)    (show all 140)
idRelated DiseaseScoreTop Affiliating Genes
1osteogenesis imperfecta31.6COL1A2, CD36, COL1A1
2osteogenesis imperfecta type iii31.0COL1A2, COL1A1
3osteogenesis imperfecta, type ii30.8COL1A2, COL1A1
4col1a1/2-related osteogenesis imperfecta30.6COL1A2, COL1A1
5otosclerosis30.6COL1A1, CD36, COL1A2
6dentinogenesis imperfecta30.4COL1A2, COL1A1, CD36
7idiopathic juvenile osteoporosis30.3COL1A2, CD36
8osteoporosis, postmenopausal30.3CD36, COL1A1
9osteoporosis30.3COL1A1, CD36, COL1A2
10osteogenesis imperfecta type 430.2COL1A2, COL1A1
11marfan syndrome30.1CD36, COL1A2
12osteoarthritis30.1COL1A2, CD36, COL1A1
13osteogenesis imperfecta type 610.7
14ehlers-danlos/osteogenesis imperfecta syndrome10.6
15classic non-deforming osteogenesis imperfecta with blue sclerae10.6
16osteogenesis imperfecta type 910.6
17ehlers–danlos syndrome10.6
18osteogenesis imperfecta type 710.5
19osteogenesis imperfecta type 2a10.5
20osteogenesis imperfecta type xi10.5
21osteogenesis imperfecta type xii10.5
22type i ehlers-danlos syndrome10.5
23osteogenesis imperfecta levin type10.5
24osteoporosis-pseudoglioma syndrome10.5
25osteogenesis imperfecta type x10.5
26micro syndrome10.4
27image syndrome10.4
28osteogenesis imperfecta type 2b10.4
29high bone mass osteogenesis imperfecta10.4
30reflex sympathetic dystrophy10.3
31osteonecrosis10.3
32spondylolysis10.3
33hypophosphatasia10.3
34dentinogenesis imperfecta 110.3
35cerebellar hypoplasia10.3
36crtap-related osteogenesis imperfecta10.3
37perinatally lethal osteogenesis imperfecta10.3
38progressively deforming osteogenesis imperfecta10.3
39congenital osteogenesis imperfecta - microcephaly - cataracts10.3
40bone fracture10.3
41ebstein anomaly10.3
42spondylolisthesis10.3
43thanatophoric dysplasia10.3
44fibrous dysplasia10.3
45aortic aneurysm10.3
46al gazali sabrinathan nair syndrome10.3
47chondrodysplasia10.3
48laryngomalacia10.3
49elastosis perforans serpiginosa10.3
50osteogenesis imperfecta congenita microcephaly and cataracts10.3

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



Diseases related to osteogenesis imperfecta type i

Clinical Features for Osteogenesis Imperfecta Type I

Sources:
47OMIM
See all sources

Clinical features from OMIM:

166200,166230

Clinical synopsis from OMIM:

166200

Drugs & Therapeutics for Osteogenesis Imperfecta Type I

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Osteogenesis Imperfecta Type I

Drug clinical trials:

Search ClinicalTrials for Osteogenesis Imperfecta Type I

Search NIH Clinical Center for Osteogenesis Imperfecta Type I

Search CenterWatch for Osteogenesis Imperfecta Type I

Inferred drug relations via UMLS61/NDF-RT41:

Genetic Tests for Osteogenesis Imperfecta Type I

Sources:
22GTR
See all sources

Genetic tests related to Osteogenesis Imperfecta Type I:

id Genetic test Affiliating Genes
1 Osteogenesis Imperfecta Type I22

Anatomical Context for Osteogenesis Imperfecta Type I

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Osteogenesis Imperfecta Type I:

33
Skin, Uterus, Bone marrow, Colon, T cells, B cells

Animal Models for Osteogenesis Imperfecta Type I or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Osteogenesis Imperfecta Type I:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.0GGT1, COL1A1, COL1A2
2MP:00053907.9GGT1, CD36, COL1A1, COL1A2

Publications for Osteogenesis Imperfecta Type I

Sources:
51PubMed
See all sources

Articles related to Osteogenesis Imperfecta Type I:

(show top 50)    (show all 274)
idTitleAuthorsYear
1
Allele dependent silencing of collagen type I using small interfering RNAs targeting 3'UTR Indels - a novel therapeutic approach in osteogenesis imperfecta. (23983594)
2013
2
A recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta type V. (23813632)
2013
3
Risedronate in adults with osteogenesis imperfecta type I: increased bone mineral density and decreased bone turnover, but high fracture rate persists. (21739105)
2012
4
Cesarean delivery and colon resection in a patient with type III osteogenesis imperfecta. (21813546)
2011
5
Heterozygous C-propeptide mutations in COL1A1: osteogenesis imperfecta type IIC and dense bone variant. (21834035)
2011
6
Mutations in SERPINF1 cause osteogenesis imperfecta type VI. (21826736)
2011
7
Mutation characteristics in type I collagen genes in Chinese patients with osteogenesis imperfecta. (21341209)
2011
8
Osteogenesis imperfecta type V, spot diagnosis. (22802766)
2010
9
Ankle strength and functional limitations in children and adolescents with type I osteogenesis imperfecta. (20699779)
2010
10
Intravenous pamidronate in osteogenesis imperfecta type VII. (19137231)
2009
11
Molecular diagnosis of a Chinese pedigree with osteogenesis imperfecta type I]. (19199251)
2009
12
Osteogenesis imperfecta type III with intracranial hemorrhage and brachydactyly associated with mutations in exon 49 of COL1A2. (19208385)
2009
13
In-toeing in children with type I osteogenesis imperfecta: an observational descriptive study. (19605926)
2009
14
Two novel COL1A1 mutations in patients with osteogenesis imperfecta (OI) affect the stability of the collagen type I triple-helix. (18670065)
2008
15
Defective C-propeptides of the proalpha2(I) chain of type I procollagen impede molecular assembly and result in osteogenesis imperfecta. (18375391)
2008
16
Prospective comparative case study of uterine collagen in a woman with osteogenesis imperfecta type 1 who had previously ruptured her uterus. (17999312)
2007
17
Studies of otic capsule morphology and gene expression in the Mov13 mouse--an animal model of type I osteogenesis imperfecta. (17595534)
2007
18
Prenatal diagnosis of type II osteogenesis imperfecta, describing a new mutation in the COL1A1 gene. (16566045)
2006
19
Gene symbol: COL1A1. Disease: Osteogenesis imperfecta type I. (15046069)
2004
20
Treatment of poor linear growth in a patient with osteogenesis imperfecta type III. (15598484)
2004
21
Effect of treatment with alendronate in osteogenesis imperfecta type I: a case report. (15647630)
2004
22
A novel Gly to Arg substitution at position 388 of the alpha1 chain of type I collagen in lethal form of osteogenesis imperfecta. (12362986)
2002
23
A single amino acid substitution (D1441Y) in the carboxyl-terminal propeptide of the proalpha1(I) chain of type I collagen results in a lethal variant of osteogenesis imperfecta with features of dense bone diseases. (11826020)
2002
24
Similar COL1A1 expression in fibroblasts from some patients with clinical otosclerosis and those with type I osteogenesis imperfecta. (11860074)
2002
25
Thirty-three novel COL1A1 and COL1A2 mutations in patients with osteogenesis imperfecta types I-IV. (11317364)
2001
26
Transfer of proalpha2(I) cDNA into cells of a murine model of human Osteogenesis Imperfecta restores synthesis of type I collagen comprised of alpha1(I) and alpha2(I) heterotrimers in vitro and in vivo. (11500956)
2001
27
Defects of type I procollagen metabolism correlated with decrease of prolidase activity in a case of lethal osteogenesis imperfecta. (11277941)
2001
28
Prenatal diagnosis of a novel COL1A1 mutation in osteogenesis imperfecta type I carried through full term pregnancy. (11113887)
2000
29
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
30
An alpha2(I) glycine to aspartate substitution is responsible for the presence of a kink in type I collagen in a lethal case of osteogenesis imperfecta. (9923651)
1998
31
Mutation producing alternative splicing of exon 26 in the COL1A2 gene causes type IV osteogenesis imperfecta with intrafamilial clinical variability. (9268111)
1997
32
Absence of mutations in the promoter of the COL1A1 gene of type I collagen in patients with osteogenesis imperfecta type I. (8544188)
1995
33
A Gly238Ser substitution in the alpha 2 chain of type I collagen results in osteogenesis imperfecta type III. (7860070)
1995
34
Substitution of an aspartic acid for glycine 700 in the alpha 2(I) chain of type I collagen in a recurrent lethal type II osteogenesis imperfecta dramatically affects the mineralization of bone. (8182080)
1994
35
Determination of a new collagen type I alpha 2 gene point mutation which causes a Gly640 Cys substitution in osteogenesis imperfecta and prenatal diagnosis by DNA hybridisation. (7891382)
1994
36
Osteogenesis imperfecta type I: molecular heterogeneity for COL1A1 null alleles of type I collagen. (7942841)
1994
37
Mutations in the carboxyl-terminal propeptide of the pro alpha 1(I) chain of type I collagen result in defective chain association and produce lethal osteogenesis imperfecta. (8349697)
1993
38
SSCP detection of a Gly565Val substitution in the pro alpha 1(I) collagen chain resulting in osteogenesis imperfecta type II. (8100209)
1993
39
A cysteine for glycine substitution at position 175 in an alpha 1 (I) chain of type I collagen produces a clinically heterogeneous form of osteogenesis imperfecta. (8339541)
1993
40
Defective splicing of mRNA from one COL1A1 allele of type I collagen in nondeforming (type I) osteogenesis imperfecta. (8408653)
1993
41
An RT-PCR-SSCP screening strategy for detection of mutations in the gene encoding the alpha 1 chain of type I collagen: application to four patients with osteogenesis imperfecta. (7691343)
1993
42
Expression of mutant alpha (I)-procollagen in osteoblast and fibroblast cultures from a proband with osteogenesis imperfecta type IV. (1642148)
1992
43
Substitution of cysteine for glycine at residue 415 of one allele of the alpha 1(I) chain of type I procollagen in type III/IV osteogenesis imperfecta. (1770532)
1991
44
Substitution of cysteine for glycine-alpha 1-691 in the pro alpha 1(I) chain of type I procollagen in a proband with lethal osteogenesis imperfecta destabilizes the triple helix at a site C-terminal to the substitution. (1953667)
1991
45
Clinical and genetic aspects in autosomal dominant inherited osteogenesis imperfecta type I. (1952595)
1991
46
Phenotypic heterogeneity in osteogenesis imperfecta: the mildly affected mother of a proband with a lethal variant has the same mutation substituting cysteine for alpha 1-glycine 904 in a type I procollagen gene (COL1A1). (2220807)
1990
47
A lethal variant of osteogenesis imperfecta has a single base mutation that substitutes cysteine for glycine 904 of the alpha 1(I) chain of type I procollagen. The asymptomatic mother has an unidentified mutation producing an overmodified and unstable type I procollagen. (2913053)
1989
48
Heterozygosity for a large deletion in the alpha 2(I) collagen gene has a dramatic effect on type I collagen secretion and produces perinatal lethal osteogenesis imperfecta. (3372533)
1988
49
On the paradoxically high relative prevalence of osteogenesis imperfecta type III in the black population of South Africa. (3995789)
1985
50
Collagen defect of bone in osteogenesis imperfecta (Type I). An electron microscopic study. (6697589)
1984

Genetic Variations for Osteogenesis Imperfecta Type I

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Osteogenesis Imperfecta Type I:

63 (show all 26)
id Symbol AA change Variation 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

Expression for genes affiliated with Osteogenesis Imperfecta Type I

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Osteogenesis Imperfecta Type I

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

Pathways for genes affiliated with Osteogenesis Imperfecta Type I

Sources:
38NCBI BioSystems Database, 12EMD Millipore, 54Reactome, 30KEGG, 52QIAGEN, 50PharmGKB
See all sources

Pathways related to Osteogenesis Imperfecta Type I according to GeneCards/GeneDecks:

(show all 18)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5COL1A2, COL1A1
2
Cell adhesion Endothelial cell contacts by non-junctional mechanisms
Hide members
9.5COL1A1, COL1A2
3
Hide members
9.5COL1A2, COL1A1
49.5COL1A1, COL1A2
59.5COL1A1, COL1A2
6
Cell adhesion ECM remodeling
Hide members
9.5COL1A2, COL1A1
7
Development Hedgehog and PTH signaling pathways in bone and cartilage development
Hide members
9.5COL1A2, COL1A1
89.5COL1A2, COL1A1
99.5COL1A1, COL1A2
109.5COL1A2, COL1A1
119.5COL1A2, COL1A1
129.5COL1A2, COL1A1
139.5COL1A1, COL1A2
149.5COL1A2, COL1A1
15
Hide members
8.7CD36, COL1A1, COL1A2
168.7COL1A2, COL1A1, CD36
17
Hide members
8.7COL1A2, CD36, COL1A1
188.7COL1A2, COL1A1, CD36

Compounds for genes affiliated with Osteogenesis Imperfecta Type I

Sources:
11DrugBank, 45Novoseek, 60Tocris Bioscience, 29IUPHAR, 24HMDB, 50PharmGKB
See all sources

Compounds related to Osteogenesis Imperfecta Type I according to GeneCards/GeneDecks:

(show all 23)
idCompoundScoreTop Affiliating Genes
1Collagenase119.9COL1A1, COL1A2
2nppa459.8COL1A2, COL1A1
3carbodiimide459.8COL1A1, COL1A2
4nppb45 60 2911.8COL1A1, COL1A2
5xbai459.8COL1A2, COL1A1
6ecori459.8COL1A1, COL1A2
7rsai459.8COL1A1, COL1A2
8mspi459.7COL1A1, COL1A2
9cyanogen bromide459.4CD36, COL1A2
10hydroxyproline45 11 2411.4COL1A1, CD36
11dexamethasone45 50 29 1112.4GGT1, COL1A1
12mycophenolate mofetil45 50 1111.4GGT1, CD36
13carbamazepine45 50 1111.2GGT1, CD36
14betacarotene459.2GGT1, CD36
15glycosaminoglycan459.2CD36, COL1A1
16aspartate459.2GGT1, COL1A1, COL1A2
17pioglitazone45 50 29 1112.1CD36, GGT1
18procollagen459.0CD36, COL1A1, COL1A2
19vitamin d458.9COL1A2, COL1A1, CD36
20alpha tocopherol458.8GGT1, CD36
21cysteine458.5GGT1, CD36, COL1A1, COL1A2
22estrogen458.4COL1A2, COL1A1, GLYAT, CD36
23serine458.3COL1A2, COL1A1, CD36, GGT1

GO Terms for genes affiliated with Osteogenesis Imperfecta Type I

Sources:
16Gene Ontology
See all sources

Cellular components related to Osteogenesis Imperfecta Type I according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1collagen type IGO:0055849.5COL1A1, COL1A2

Biological processes related to Osteogenesis Imperfecta Type I according to GeneCards/GeneDecks:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1skin morphogenesisGO:0435899.7COL1A1, COL1A2
2protein heterotrimerizationGO:0702089.7COL1A2, COL1A1
3cellular response to amino acid stimulusGO:0712309.6COL1A1, COL1A2
4collagen fibril organizationGO:0301999.6COL1A2, COL1A1
5blood vessel developmentGO:0015689.6COL1A1, COL1A2
6leukocyte migrationGO:0509009.5COL1A2, COL1A1
7collagen catabolic processGO:0305749.4COL1A1, COL1A2
8extracellular matrix disassemblyGO:0226179.2COL1A2, COL1A1
9platelet activationGO:0301688.9COL1A1, CD36, COL1A2
10blood coagulationGO:0075968.7COL1A2, CD36, COL1A1

Molecular functions related to Osteogenesis Imperfecta Type I according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituentGO:0052019.5COL1A1, COL1A2
2platelet-derived growth factor bindingGO:0484079.2COL1A1, COL1A2

Products for genes affiliated with Osteogenesis Imperfecta Type I

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Sources for Osteogenesis Imperfecta Type I

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet