MCID: OST026
MIFTS: 60

Osteogenesis Imperfecta Type I malady

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

Summaries for Osteogenesis Imperfecta Type I

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44NIH Rare Diseases, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 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 otosclerosis. An important gene associated with Osteogenesis Imperfecta Type I is COL1A1 (collagen, type I, alpha 1), and among its related pathways are Cell adhesion ECM remodeling and Protein digestion and absorption. The drugs calcitonin and salmon calcitonin and the compounds nppa and carbodiimide have been mentioned in the context of this disorder. Affiliated tissues include bone, eye and testes, and related mouse phenotypes are limbs/digits/tail and growth/size/body.

Description from OMIM:48 166200,166230

Aliases & Classifications for Osteogenesis Imperfecta Type I

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66Wikipedia, 44NIH Rare Diseases, 23GTR, 48OMIM, 46Novoseek, 50Orphanet, 63UMLS, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
osteogenesis imperfecta type 1:
Inheritance: Autosomal dominant; Age of onset: Childhood


Aliases & Descriptions:

osteogenesis imperfecta type i 66
osteogenesis imperfecta type 1 44 23 50
van der hoeve syndrome 66 50
oi type 1 44 50
osteogenesis imperfecta with blue sclerae 44
non-deforming osteogenesis imperfecta 50
osteogenesis imperfecta, type i 48
osteogenesis imperfecta tarda 44
mild osteogenesis imperfecta 50
osteogenesis imperfecta 63
trias fragilitis ossium 66
adair-dighton syndrome 50
lobstein's disease 63
oi, type i 46


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ICD10 via Orphanet27 Q78.0
SNOMED-CT via Orphanet60 385482004

Related Diseases for Osteogenesis Imperfecta Type I

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18GeneCards, 19GeneDecks
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Diseases in the Osteogenesis Imperfecta Type Iii family:

Osteogenesis Imperfecta osteogenesis imperfecta type i
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
Osteogenesis Imperfecta Type 9 Crtap-Related Osteogenesis Imperfecta
Lepre1-Related Osteogenesis Imperfecta Ppib-Related Osteogenesis Imperfecta
Fkbp10-Related Osteogenesis Imperfecta Serpinf1-Related Osteogenesis Imperfecta
Serpinh1-Related Osteogenesis Imperfecta Sp7-Related Osteogenesis Imperfecta
Ifitm5-Related Osteogenesis Imperfecta Bmp1-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 all 31)
idRelated DiseaseScoreTop Affiliating Genes
1osteogenesis imperfecta31.6CD36, COL1A2, COL1A1
2otosclerosis30.6COL1A1, COL1A2, CD36
3dentinogenesis imperfecta30.4CD36, COL1A2, COL1A1
4osteogenesis imperfecta type 430.3COL1A1, COL1A2
5osteoporosis30.3COL1A1, COL1A2, CD36
6classic non-deforming osteogenesis imperfecta with blue sclerae10.6
7hyper ige syndrome10.3
8vaginitis10.3
9osteogenesis imperfecta type 1a10.3
10osteogenesis imperfecta type 510.2
11osteogenesis imperfecta type 810.2
12osteogenesis imperfecta type xiii10.2
13osteogenesis imperfecta, type xiv10.2
14osteogenesis imperfecta, type xv10.2
15osteogenesis imperfecta, type ii10.1COL1A1
16caffey disease10.1COL1A1
17osteogenesis imperfecta type iii10.0COL1A1, COL1A2
18col1a1/2-related osteogenesis imperfecta10.0COL1A1, COL1A2
19ehlers–danlos syndrome classical type10.0COL1A1, COL1A2
20systemic scleroderma10.0COL1A2, COL1A1
21collagen disease10.0CD36, COL1A1
22idiopathic juvenile osteoporosis10.0COL1A2, CD36
23gingival overgrowth10.0CD36, COL1A1
24marfan syndrome10.0COL1A2, CD36
25osteoporosis, postmenopausal10.0CD36, COL1A1
26short stature10.0COL1A2, CD36
27ehlers-danlos syndrome9.9COL1A1, COL1A2, CD36
28connective tissue disease9.9COL1A1, COL1A2, CD36
29pulmonary fibrosis9.9CD36, COL1A2, COL1A1
30glomerulosclerosis9.9CD36, COL1A2
31osteoarthritis9.9CD36, COL1A2, COL1A1

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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48OMIM
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Symptoms by clinical synopsis from OMIM:

166200

Clinical features from OMIM:

166200,166230

Drugs & Therapeutics for Osteogenesis Imperfecta Type I

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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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 UMLS63/NDF-RT42:

Genetic Tests for Osteogenesis Imperfecta Type I

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23GTR
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Genetic tests related to Osteogenesis Imperfecta Type I:

id Genetic test Affiliating Genes
1 Osteogenesis Imperfecta Type I23

Anatomical Context for Osteogenesis Imperfecta Type I

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34MalaCards
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MalaCards organs/tissues related to Osteogenesis Imperfecta Type I:

34
Bone, Eye, Testes, Skin

Animal Models for Osteogenesis Imperfecta Type I or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Osteogenesis Imperfecta Type I:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.7COL1A1, COL1A2, GGT1
2MP:00053788.2CD36, GGT1, COL1A2, COL1A1
3MP:00053908.1CD36, GGT1, COL1A2, COL1A1

Publications for Osteogenesis Imperfecta Type I

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53PubMed
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Articles related to Osteogenesis Imperfecta Type I:

(show all 45)
idTitleAuthorsYear
1
Teriparatide treatment in adult patients with osteogenesis imperfecta type I. (23907723)
2013
2
Mineral particle size in children with osteogenesis imperfecta type I is not increased independently of specific collagen mutations. (24296239)
2013
3
Eleven years of experience with bisphosphonate plus alfacalcidol treatment in a man with osteogenesis imperfecta type I. (23293527)
2013
4
Muscle Anatomy and Dynamic Muscle Function in Osteogenesis Imperfecta Type I. (24248189)
2013
5
Osteogenesis imperfecta type I: second-trimester diagnosis and incidental identification of a dominant COL1A1 deletion mutation in the paucisymptomatic father. (22795108)
2012
6
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
7
Risedronate in adults with osteogenesis imperfecta type I: increased bone mineral density and decreased bone turnover, but high fracture rate persists. (21739105)
2012
8
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
9
An unusual presentation of osteogenesis imperfecta type I. (23754901)
2011
10
Ebstein's anomaly in a child with osteogenesis imperfecta type I. (22461818)
2011
11
Molecular diagnosis of a Chinese pedigree with osteogenesis imperfecta type I]. (19199251)
2009
12
Femoral artery thrombosis after internal fixation of a transverse acetabular fracture in a patient with osteogenesis imperfecta type I. (18271949)
2008
13
Molecular diagnosis of osteogenesis imperfecta type I]. (19145934)
2008
14
A novel RNA-splicing mutation in COL1A1 gene causing osteogenesis imperfecta type I in a Chinese family. (18755172)
2008
15
Stimulation of collagen biosynthesis by flavonoid glycosides in skin fibroblasts of osteogenesis imperfecta type I and the potential mechanism of their action. (17982699)
2007
16
Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV. (16786509)
2006
17
Single-dose pharmacokinetics and tolerability of alendronate 35- and 70-milligram tablets in children and adolescents with osteogenesis imperfecta type I. (15827104)
2005
18
Gene symbol: COL1A1. Disease: Osteogenesis imperfecta type I. (15046069)
2004
19
Cardiopulmonary fitness and muscle strength in patients with osteogenesis imperfecta type I. (15580207)
2004
20
Effect of treatment with alendronate in osteogenesis imperfecta type I: a case report. (15647630)
2004
21
Effects of treatment with etidronate and alfacalcidol for osteogenesis imperfecta type I: a case report. (12665966)
2003
22
Hypercalciuria in osteogenesis imperfecta type I. (14520592)
2003
23
Increased bone resorption with decreased activity and increased recruitment of osteoblasts in osteogenesis imperfecta type I. (11984701)
2002
24
Thirty-three novel COL1A1 and COL1A2 mutations in patients with osteogenesis imperfecta types I-IV. (11317364)
2001
25
Two pregnancies after preimplantation genetic diagnosis for osteogenesis imperfecta type I and type IV. (10942108)
2000
26
Nonsense mutations in the COL1A1 gene preferentially reduce nuclear levels of mRNA but not hnRNA in osteogenesis imperfecta type I cell strains. (10686420)
2000
27
Prenatal diagnosis of a novel COL1A1 mutation in osteogenesis imperfecta type I carried through full term pregnancy. (11113887)
2000
28
MRI-visible pericochlear lesions in osteogenesis imperfecta type I. (11044947)
2000
29
Bone density measurements by computed tomography in osteogenesis imperfecta type I. (10550462)
1999
30
Prenatal diagnosis of osteogenesis imperfecta type I by COL1A1 null-allele testing. (10521849)
1999
31
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
32
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
33
Hearing loss (in nonoperated ears) in relation to age in osteogenesis imperfecta type I. (9228859)
1997
34
Premature chain termination is a unifying mechanism for COL1A1 null alleles in osteogenesis imperfecta type I cell strains. (8808594)
1996
35
Scanning electron microscopy of teeth in osteogenesis imperfecta type I. (8734703)
1996
36
Absence of mutations in the promoter of the COL1A1 gene of type I collagen in patients with osteogenesis imperfecta type I. (8544188)
1995
37
Osteogenesis imperfecta type I: molecular heterogeneity for COL1A1 null alleles of type I collagen. (7942841)
1994
38
Molecular heterogeneity in osteogenesis imperfecta type I. (8456806)
1993
39
Osteogenesis imperfecta type I is commonly due to a COL1A1 null allele of type I collagen. (1353940)
1992
40
Clinical and genetic aspects in autosomal dominant inherited osteogenesis imperfecta type I. (1952595)
1991
41
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
42
Osteogenesis imperfecta type I with unusual dental abnormalities. (3239581)
1988
43
Mutations linked to the pro alpha 2(I) collagen gene are responsible for several cases of osteogenesis imperfecta type I. (3023615)
1986
44
Collagen defect of bone in osteogenesis imperfecta (Type I). An electron microscopic study. (6697589)
1984
45
Heterogeneity of osteogenesis imperfecta type I. (6876111)
1983

Variations for Osteogenesis Imperfecta Type I

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Osteogenesis Imperfecta Type I:

65 (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:

1
id Gene Name 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.994G> A (p.Gly332Arg)single nucleotide variantPathogenicrs72645357GRCh37Chr 17, 48273524: 48273524
5COL1A1NM_000088.3(COL1A1): c.3235G> A (p.Gly1079Ser)single nucleotide variantPathogenicrs72654802GRCh37Chr 17, 48265483: 48265483
6COL1A1COL1A1, IVS26DS, G-A, +1single nucleotide variantPathogenic
7COL1A1NM_000088.3(COL1A1): c.3421C> T (p.Arg1141Ter)single nucleotide variantPathogenicrs72656314GRCh37Chr 17, 48264847: 48264847
8COL1A1COL1A1, IVS19DS, G-C, +1single nucleotide variantPathogenic

Expression for genes affiliated with Osteogenesis Imperfecta Type I

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2BioGPS, 16Gene Expression Omnibus DataSets
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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

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51PathCards, 61Thomson Reuters, 13EMD Millipore, 31KEGG, 56Reactome, 54QIAGEN, 39NCBI BioSystems Database, 52PharmGKB
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Pathways related to Osteogenesis Imperfecta Type I according to GeneCards/GeneDecks:

(show all 14)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.5COL1A2, COL1A1
29.5COL1A1, COL1A2
39.5COL1A2, COL1A1
4
Show member pathways
9.5COL1A2, COL1A1
5
Show member pathways
Cytoskeleton remodeling Fibronectin binding integrins in cell motility61
Cytoskeleton remodeling Integrin outside in signaling61
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases61
Cell adhesion Tight junctions61
Development MAG dependent inhibition of neurite outgrowth61
9.5COL1A2, COL1A1
69.5COL1A2, COL1A1
79.5COL1A1, COL1A2
8
Show member pathways
9.5COL1A1, COL1A2
99.5COL1A1, COL1A2
109.5COL1A2, COL1A1
11
Show member pathways
8.7CD36, COL1A2, COL1A1
128.7CD36, COL1A2, COL1A1
13
Show member pathways
Integrin-mediated cell adhesion39
Focal Adhesion39
8.7CD36, COL1A2, COL1A1
14
Show member pathways
8.7CD36, COL1A2, COL1A1

Compounds for genes affiliated with Osteogenesis Imperfecta Type I

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46Novoseek, 30IUPHAR, 62Tocris Bioscience, 52PharmGKB, 25HMDB, 12DrugBank
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Compounds related to Osteogenesis Imperfecta Type I according to GeneCards/GeneDecks:

(show all 26)
idCompoundScoreTop Affiliating Genes
1nppa469.9COL1A2, COL1A1
2carbodiimide469.9COL1A2, COL1A1
3nppb30 46 6211.8COL1A1, COL1A2
4xbai469.8COL1A2, COL1A1
5ecori469.8COL1A1, COL1A2
6rsai469.8COL1A2, COL1A1
7mspi469.8COL1A2, COL1A1
8simvastatin46 52 62 30 25 1214.5COL1A1, COL1A2
9cyanogen bromide469.5CD36, COL1A2
10hydroxyproline46 25 1211.4COL1A1, CD36
11mycophenolate mofetil46 52 1211.4CD36, GGT1
12carbamazepine46 52 1211.4CD36, GGT1
13betacarotene469.3CD36, GGT1
14pioglitazone30 46 52 1212.3CD36, GGT1
15glycosaminoglycan469.3CD36, COL1A1
16aspartate469.2GGT1, COL1A2, COL1A1
17alpha tocopherol469.2CD36, GGT1
18valine469.2GGT1, COL1A1
19tacrolimus46 52 1211.1CD36, GGT1
20procollagen469.0CD36, COL1A2, COL1A1
21hyaluronic acid46 2510.0CD36, GGT1
22vitamin d469.0CD36, COL1A2, COL1A1
23dexamethasone46 52 30 1211.8COL1A1, GGT1, CD36
24cysteine468.5CD36, GGT1, COL1A2, COL1A1
25serine468.4COL1A1, COL1A2, GGT1, CD36
26estrogen468.4COL1A1, COL1A2, GLYAT, CD36

GO Terms for genes affiliated with Osteogenesis Imperfecta Type I

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17Gene Ontology
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Cellular components related to Osteogenesis Imperfecta Type I according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulum lumenGO:0057889.5COL1A2, COL1A1
2collagen type IGO:0055849.4COL1A2, COL1A1
3extracellular matrixGO:0310129.2COL1A2, COL1A1

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1skin morphogenesisGO:0435899.8COL1A2, COL1A1
2protein heterotrimerizationGO:0702089.7COL1A2, COL1A1
3collagen fibril organizationGO:0301999.7COL1A1, COL1A2
4blood vessel developmentGO:0015689.7COL1A1, COL1A2
5cellular response to amino acid stimulusGO:0712309.6COL1A2, COL1A1
6collagen catabolic processGO:0305749.6COL1A2, COL1A1
7extracellular matrix disassemblyGO:0226179.5COL1A2, COL1A1
8leukocyte migrationGO:0509009.4COL1A1, COL1A2
9xenobiotic metabolic processGO:0068059.3GGT1, GLYAT
10skeletal system developmentGO:0015019.2COL1A2, COL1A1
11platelet activationGO:0301688.9CD36, COL1A2, COL1A1
12blood coagulationGO:0075968.8COL1A1, COL1A2, CD36

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

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

Products for genes affiliated with Osteogenesis Imperfecta Type I

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  • Antibodies
  • Proteins
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  • Antibodies

Sources for Osteogenesis Imperfecta Type I

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet