MCID: OST026
MIFTS: 64

Osteogenesis Imperfecta Type I malady

Bone diseases, Fetal diseases categories

Summaries for Osteogenesis Imperfecta Type I

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42NIH Rare Diseases, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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 bone, eye and skin, and related mouse phenotypes are limbs/digits/tail and skeleton.

Description from OMIM:46 166200,166230

Aliases & Classifications for Osteogenesis Imperfecta Type I

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60UMLS, 63Wikipedia, 48Orphanet, 42NIH Rare Diseases, 22GTR, 46OMIM, 44Novoseek, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
osteogenesis imperfecta type 1:
Inheritance: Autosomal dominant; Age of onset: Childhood


Aliases & Descriptions:

osteogenesis imperfecta type i 63
osteogenesis imperfecta type 1 42 22 48
van der hoeve syndrome 63 48
oi type 1 42 48
osteogenesis imperfecta with blue sclerae 42
non-deforming osteogenesis imperfecta 48
osteogenesis imperfecta, type i 46
osteogenesis imperfecta tarda 42
mild osteogenesis imperfecta 48
trias fragilitis ossium 63
osteogenesis imperfecta 60
adair-dighton syndrome 48
lobstein's disease 60
oi, type i 44


External Ids:

ICD10 via Orphanet26 Q78.0
SNOMED-CT via Orphanet57 385482004

Related Diseases for Osteogenesis Imperfecta Type I

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Sources:
17GeneCards, 18GeneDecks
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Diseases in the Osteogenesis Imperfecta Type Iii family:

Osteogenesis Imperfecta 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 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 top 50)    (show all 136)
idRelated DiseaseScoreTop Affiliating Genes
1osteogenesis imperfecta31.6COL1A2, CD36, COL1A1
2osteogenesis imperfecta type iii31.4COL1A2, COL1A1
3dentinogenesis imperfecta31.2COL1A2, COL1A1, CD36
4osteogenesis imperfecta type 430.8COL1A2, COL1A1
5osteogenesis imperfecta, type ii30.8COL1A2, COL1A1
6ehlers-danlos syndrome30.8COL1A2, COL1A1, CD36
7osteoporosis30.8COL1A1, CD36, COL1A2
8col1a1/2-related osteogenesis imperfecta30.6COL1A2, COL1A1
9collagen disease30.6COL1A1, CD36
10idiopathic juvenile osteoporosis30.3COL1A2, CD36
11otosclerosis30.3COL1A1, CD36, COL1A2
12marfan syndrome30.1CD36, COL1A2
13connective tissue disease30.1COL1A1, CD36, COL1A2
14osteoarthritis30.1COL1A2, CD36, COL1A1
15osteogenesis imperfecta type 610.7
16osteogenesis imperfecta type 510.6
17osteogenesis imperfecta type 910.6
18osteogenesis imperfecta type 810.5
19osteogenesis imperfecta type xiii10.5
20osteogenesis imperfecta type 710.5
21osteogenesis imperfecta type 2a10.5
22osteogenesis imperfecta type xi10.5
23osteogenesis imperfecta type xii10.5
24osteogenesis imperfecta levin type10.4
25osteogenesis imperfecta type 1a10.4
26osteogenesis imperfecta type x10.4
27osteogenesis imperfecta, type xiv10.4
28image syndrome10.4
29osteogenesis imperfecta type 2b10.4
30osteogenesis imperfecta, type xv10.4
31congenital osteogenesis imperfecta - microcephaly - cataracts10.4
32high bone mass osteogenesis imperfecta10.4
33reflex sympathetic dystrophy10.3
34osteonecrosis10.3
35type i ehlers-danlos syndrome10.3
36cerebritis10.3
37spondylolysis10.3
38hypophosphatasia10.3
39breast cancer10.3
40dentinogenesis imperfecta 110.3
41osteoporosis-pseudoglioma syndrome10.3
42crtap-related osteogenesis imperfecta10.3
43ehlers-danlos/osteogenesis imperfecta syndrome10.3
44bone fracture10.3
45vaginitis10.3
46spondylolisthesis10.2
47thanatophoric dysplasia10.2
48fibrous dysplasia10.2
49n syndrome10.2
50aortic aneurysm10.2

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

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46OMIM
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Clinical features from OMIM:

166200,166230

Clinical synopsis from OMIM:

166200

Drugs & Therapeutics for Osteogenesis Imperfecta Type I

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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 UMLS60/NDF-RT40:

Genetic Tests for Osteogenesis Imperfecta Type I

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22GTR
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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

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32MalaCards
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MalaCards organs/tissues related to Osteogenesis Imperfecta Type I:

32
Bone, Eye, Skin, Testes

Animal Models for Osteogenesis Imperfecta Type I or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Osteogenesis Imperfecta Type I:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.0GGT1, COL1A1, COL1A2
2MP:00053907.9GGT1, CD36, COL1A1, COL1A2

Publications for Osteogenesis Imperfecta Type I

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50PubMed
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Articles related to Osteogenesis Imperfecta Type I:

(show top 50)    (show all 182)
idTitleAuthorsYear
1
Novel COL1A1 gene mutation (R1026X) of type I osteogenesis imperfecta: A first case report. (23682531)
2013
2
Eleven years of experience with bisphosphonate plus alfacalcidol treatment in a man with osteogenesis imperfecta type I. (23293527)
2013
3
Allele dependent silencing of collagen type I using small interfering RNAs targeting 3'UTR Indels - a novel therapeutic approach in osteogenesis imperfecta. (23983594)
2013
4
Muscle Anatomy and Dynamic Muscle Function in Osteogenesis Imperfecta Type I. (24248189)
2013
5
Studies of type I collagen (COL1A1) alpha1 chain in patients with osteogenesis imperfecta]. (22679784)
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
Effects of tissue hydration on nanoscale structural morphology and mechanics of individual Type I collagen fibrils in the Brtl mouse model of Osteogenesis Imperfecta. (23041293)
2012
8
Increased cartilage type II collagen degradation in patients with osteogenesis imperfecta used as a human model of bone type I collagen alterations. (20005316)
2010
9
Mutations in COL1A1 of type I collagen genes in Chinese patients with osteogenesis imperfecta. (19491628)
2009
10
A G560S mutation in alpha1 (I) collagen causes familial osteogenesis imperfecta type IV. (19751715)
2009
11
Y-position cysteine substitution in type I collagen (alpha1(I) R888C/p.R1066C) is associated with osteogenesis imperfecta/Ehlers- Danlos syndrome phenotype. (17206620)
2007
12
Mutations in type I collagen genes in Japanese osteogenesis imperfecta patients. (17875077)
2007
13
Single-dose pharmacokinetics and tolerability of alendronate 35- and 70-milligram tablets in children and adolescents with osteogenesis imperfecta type I. (15827104)
2005
14
Cardiopulmonary fitness and muscle strength in patients with osteogenesis imperfecta type I. (15580207)
2004
15
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
16
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
17
Similar COL1A1 expression in fibroblasts from some patients with clinical otosclerosis and those with type I osteogenesis imperfecta. (11860074)
2002
18
Strategy for prenatal diagnosis of osteogenesis imperfecta by linkage analysis to the type I collagen loci COL1A1 and COL1A2. (11208313)
2000
19
Bone density measurements by computed tomography in osteogenesis imperfecta type I. (10550462)
1999
20
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
21
Familial tarda type osteogenesis imperfecta with dentinogenesis imperfecta Type I. Case report. (9241928)
1997
22
Parental mosaicism and autosomal dominant mutations causing structural abnormalities of collagen I are frequent in families with osteogenesis imperfecta type III/IV. (9240878)
1997
23
Osteogenesis imperfecta: clinical, cephalometric, and biochemical investigations of OI types I, III, and IV. (9338855)
1997
24
Mutation in the carboxy-terminal propeptide of the Pro alpha 1(I) chain of type I collagen in a child with severe osteogenesis imperfecta (OI type III): possible implications for protein folding. (8723681)
1996
25
Arachnoid cyst and chronic subdural haematoma in a child with osteogenesis imperfecta type III resulting from the substitution of glycine 1006 by alanine in the pro alpha 2(I) chain of type I procollagen. (8728690)
1996
26
A novel G1006A substitution in the alpha 2(I) chain of type I collagen produces osteogenesis imperfecta type III. (7749416)
1995
27
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
28
A Gly859Ser substitution in the triple helical domain of the alpha 2 chain of type I collagen resulting in osteogenesis imperfecta type III in two unrelated individuals. (8081394)
1994
29
A single amino acid deletion in the alpha 2(I) chain of type I collagen produces osteogenesis imperfecta type III. (8444468)
1993
30
A novel glycine to glutamic acid substitution at position 343 in the alpha 2 chain of type I collagen in an individual with lethal osteogenesis imperfecta. (7906591)
1993
31
Homology-mediated recombination between type I collagen gene exons results in an internal tandem duplication and lethal osteogenesis imperfecta. (8097422)
1993
32
Deletion of 19 base pairs in intron 13 of the gene for the pro alpha 2(I) chain of type-I procollagen (COL1A2) causes exon skipping in a proband with type-I osteogenesis imperfecta. (7916744)
1993
33
Moderately severe osteogenesis imperfecta associated with substitutions of serine for glycine in the alpha 1(I) chain of type I collagen. (8456809)
1993
34
Lethal perinatal osteogenesis imperfecta due to a type I collagen alpha 2(I) Gly to Arg substitution detected by chemical cleavage of an mRNA:cDNA sequence mismatch. (1284475)
1992
35
Osteogenesis imperfecta type I is commonly due to a COL1A1 null allele of type I collagen. (1353940)
1992
36
Substitutions for glycine alpha 1-637 and glycine alpha 2-694 of type I procollagen in lethal osteogenesis imperfecta. The conformational strain on the triple helix introduced by a glycine substitution can be transmitted along the helix. (1874719)
1991
37
A single base mutation in type I procollagen (COL1A1) that converts glycine alpha 1-541 to aspartate in a lethal variant of osteogenesis imperfecta: detection of the mutation with a carbodiimide reaction of DNA heteroduplexes and direct sequencing of products of the PCR. (2035536)
1991
38
Characterization of a type I collagen alpha 2(I) glycine-586 to valine substitution in osteogenesis imperfecta type IV. Detection of the mutation and prenatal diagnosis by a chemical cleavage method. (2064612)
1991
39
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
40
Osteogenesis imperfecta due to recurrent point mutations at CpG dinucleotides in the COL1A1 gene of type I collagen. (2037280)
1991
41
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
42
Consistent linkage of dominantly inherited osteogenesis imperfecta to the type I collagen loci: COL1A1 and COL1A2. (1967900)
1990
43
Moderately severe osteogenesis imperfecta: biochemical studies showing variable defect localization in the triple-helical domain of type I collagen. (2215359)
1990
44
Osteogenesis imperfecta type IV. Detection of a point mutation in one alpha 1(I) collagen allele (COL1A1) by RNA/RNA hybrid analysis. (2745420)
1989
45
Substitution of cysteine for glycine within the carboxyl-terminal telopeptide of the alpha 1 chain of type I collagen produces mild osteogenesis imperfecta. (3170557)
1988
46
Lethal perinatal osteogenesis imperfecta due to the substitution of arginine for glycine at residue 391 of the alpha 1(I) chain of type I collagen. (3108247)
1987
47
Dental findings in osteogenesis imperfecta: I. Occurrence and expression of type I dentinogenesis imperfecta. (3624417)
1987
48
Collagen defect of bone in osteogenesis imperfecta (Type I). An electron microscopic study. (6697589)
1984
49
Restriction fragment length polymorphism associated with the pro alpha 2(I) gene of human type I procollagen. Application to a family with an autosomal dominant form of osteogenesis imperfecta. (6313757)
1983
50
Heterogeneity of osteogenesis imperfecta type I. (6876111)
1983

Genetic Variations for Osteogenesis Imperfecta Type I

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Osteogenesis Imperfecta Type I:

62 (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

Expression for genes affiliated with Osteogenesis Imperfecta Type I

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1BioGPS, 15Gene 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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37NCBI BioSystems Database, 12EMD Millipore, 53Reactome, 29KEGG, 51QIAGEN, 49PharmGKB
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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
9.5COL1A1, COL1A2
49.5COL1A1, COL1A2
59.5COL1A1, COL1A2
6
Cell adhesion ECM remodeling
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9.5COL1A1, COL1A2
7
Development Hedgehog and PTH signaling pathways in bone and cartilage development
Hide members
9.5COL1A1, COL1A2
89.5COL1A1, COL1A2
99.5COL1A1, COL1A2
109.5COL1A1, COL1A2
119.5COL1A2, COL1A1
129.5COL1A1, COL1A2
139.5COL1A2, COL1A1
149.5COL1A2, COL1A1
15
Hide members
8.7COL1A2, COL1A1, CD36
168.7COL1A2, COL1A1, CD36
17
Hide members
8.7COL1A2, COL1A1, CD36
188.7CD36, COL1A1, COL1A2

Compounds for genes affiliated with Osteogenesis Imperfecta Type I

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11DrugBank, 44Novoseek, 59Tocris Bioscience, 28IUPHAR, 24HMDB, 49PharmGKB
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Compounds related to Osteogenesis Imperfecta Type I according to GeneCards/GeneDecks:

(show all 23)
idCompoundScoreTop Affiliating Genes
1Collagenase119.9COL1A1, COL1A2
2nppa449.8COL1A2, COL1A1
3carbodiimide449.8COL1A1, COL1A2
4nppb44 59 2811.8COL1A1, COL1A2
5xbai449.8COL1A2, COL1A1
6ecori449.8COL1A1, COL1A2
7rsai449.8COL1A1, COL1A2
8mspi449.7COL1A1, COL1A2
9cyanogen bromide449.4CD36, COL1A2
10hydroxyproline44 11 2411.4COL1A1, CD36
11dexamethasone44 49 28 1112.4GGT1, COL1A1
12mycophenolate mofetil44 49 1111.4GGT1, CD36
13carbamazepine44 49 1111.2GGT1, CD36
14betacarotene449.2GGT1, CD36
15glycosaminoglycan449.2CD36, COL1A1
16aspartate449.2GGT1, COL1A1, COL1A2
17pioglitazone44 49 28 1112.1CD36, GGT1
18procollagen449.0CD36, COL1A1, COL1A2
19vitamin d448.9COL1A2, COL1A1, CD36
20alpha tocopherol448.8GGT1, CD36
21cysteine448.5GGT1, CD36, COL1A1, COL1A2
22estrogen448.4COL1A2, COL1A1, GLYAT, CD36
23serine448.3COL1A2, COL1A1, CD36, GGT1

GO Terms for genes affiliated with Osteogenesis Imperfecta Type I

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16Gene Ontology
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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:0702089.7COL1A1, COL1A2
3cellular response to amino acid stimulusGO:0712309.6COL1A1, COL1A2
4collagen fibril organizationGO:0301999.6COL1A1, COL1A2
5blood vessel developmentGO:0015689.6COL1A2, COL1A1
6leukocyte migrationGO:0509009.5COL1A1, COL1A2
7collagen catabolic processGO:0305749.4COL1A2, COL1A1
8extracellular matrix disassemblyGO:0226179.2COL1A1, COL1A2
9platelet activationGO:0301688.9COL1A2, COL1A1, CD36
10blood coagulationGO:0075968.7CD36, COL1A1, COL1A2

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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  • Antibodies
  • Proteins
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  • Antibodies

Sources for Osteogenesis Imperfecta Type I

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet