OI
MCID: OST005
MIFTS: 72

Osteogenesis Imperfecta (OI) malady

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

Summaries for Osteogenesis Imperfecta

About this section
Sources:
9Disease Ontology, 44NIH Rare Diseases, 35MedlinePlus, 66Wikipedia, 48OMIM, 34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
MedlinePlus:35 Osteogenesis imperfecta (oi) is a genetic disorder in which bones break easily. sometimes the bones break for no known reason. oi can also cause weak muscles, brittle teeth, a curved spine, and hearing loss. oi is caused by one of several genes that aren't working properly. when these genes don't work, it affects how you make collagen, a protein that helps make bones strong. oi can range from mild to severe, and symptoms vary from person to person. a person may have just a few or as many as several hundred fractures in a lifetime. no single test can identify oi. your doctor using your medical and family history, physical exam, and imaging and lab tests to diagnose it. your doctor may also test your collagen (from skin) or genes (from blood). there is no cure, but you can manage symptoms. treatments include exercise, pain medicine, physical therapy, wheelchairs, braces, and surgery. nih: national institute of arthritis and musculoskeletal and skin diseases

MalaCards: Osteogenesis Imperfecta, also known as brittle bone disease, is related to osteogenesis imperfecta type i and osteogenesis imperfecta type iii. An important gene associated with Osteogenesis Imperfecta is COL1A2 (collagen, type I, alpha 2), 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 nppa and carbodiimide have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and testes, and related mouse phenotypes are adipose tissue and integument.

Disease Ontology:9 An osteochondrodysplasia that has material basis in a deficiency in type-i collagen which results in brittle bones and defective connective tissue.

NIH Rare Diseases:44 Osteogenesis imperfecta (oi) is a group of genetic disorders that mainly affect the bones. people with this condition have bones that break easily, often from mild trauma or with no apparent cause. multiple fractures are common, and in severe cases, can occur even before birth. milder cases may involve only a few fractures over a person's lifetime. there are at least eight recognized forms of osteogenesis imperfecta, designated type i through type viii. the types can be distinguished by their signs and symptoms, as well as by genetic factors. depending on the genetic cause, oi may be inherited in an autosomal dominant (more commonly) or autosomal recessive pattern. last updated: 10/3/2011

Wikipedia:66 Osteogenesis imperfecta (OI and sometimes known as brittle bone disease, or \"Lobstein syndrome\") is a... more...

Description from OMIM:48 166220, 166200, 610915, 610682, 259440 610854, 166240, 166210, 259420, 610968 more

Aliases & Classifications for Osteogenesis Imperfecta

About this section
Sources:
9Disease Ontology, 66Wikipedia, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 11DISEASES, 46Novoseek, 35MedlinePlus, 63UMLS, 48OMIM, 59SNOMED-CT, 36MeSH
See all sources

Classifications:



Aliases & Descriptions:

osteogenesis imperfecta 9 66 44 21 23 22 11 46 35 63
brittle bone disease 9 66 44 22
fragilitas ossium 66 44 22
vrolik disease 66 44 22
oi 66 44 22
osteopsathyrosis 9 66
osteogenesis imperfecta, recessive perinatal lethal 63
ekman-lobstein disease 66
lobstein's syndrome 9
vrolik's disease 9


Related Diseases for Osteogenesis Imperfecta

About this section
Sources:
18GeneCards, 19GeneDecks
See all sources

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 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 160)
idRelated DiseaseScoreTop Affiliating Genes
1osteogenesis imperfecta type i31.6COL1A1, COL1A2
2osteogenesis imperfecta type iii31.5COL1A1, COL1A2
3osteogenesis imperfecta, type ii31.4COL1A1
4dentinogenesis imperfecta31.1LEPRE1, COL1A1, COL1A2, CRTAP, CD36
5osteogenesis imperfecta type 431.0COL1A1, COL1A2
6osteoporosis30.8CD36, COL1A2, COL1A1
7col1a1/2-related osteogenesis imperfecta30.8COL1A1, COL1A2
8ehlers-danlos syndrome30.8CD36, COL1A2, COL1A1
9idiopathic juvenile osteoporosis30.4COL1A2, CD36
10otosclerosis30.4CD36, COL1A2, COL1A1
11marfan syndrome30.2CD36, COL1A2
12connective tissue disease30.2COL1A1, COL1A2, CD36
13osteoarthritis30.1COL1A1, COL1A2, CD36
14osteogenesis imperfecta type 610.7
15osteogenesis imperfecta type 510.6
16osteogenesis imperfecta type 910.6
17osteogenesis imperfecta type 810.6
18osteogenesis imperfecta type xiii10.6
19osteogenesis imperfecta type 2a10.5
20osteogenesis imperfecta type 710.5
21aneurysm10.5
22perinatally lethal osteogenesis imperfecta10.5
23osteogenesis imperfecta type xi10.5
24osteogenesis imperfecta type xii10.5
25osteogenesis imperfecta levin type10.5
26osteogenesis imperfecta type 1a10.5
27osteoporosis-pseudoglioma syndrome10.5
28osteogenesis imperfecta type x10.5
29osteogenesis imperfecta, type xiv10.5
30high bone mass osteogenesis imperfecta10.5
31dentinogenesis imperfecta 110.4
32osteogenesis imperfecta type 2b10.4
33osteogenesis imperfecta, type xv10.4
34congenital osteogenesis imperfecta - microcephaly - cataracts10.4
35reflex sympathetic dystrophy10.4
36spondylolysis10.4
37osteonecrosis10.4
38cerebritis10.4
39hypophosphatasia10.4
40breast cancer10.4
41cerebellar hypoplasia10.4
42crtap-related osteogenesis imperfecta10.4
43progressively deforming osteogenesis imperfecta10.4
44postural orthostatic tachycardia syndrome10.3
45spondylolisthesis10.3
46thanatophoric dysplasia10.3
47fibrous dysplasia10.3
48hydrocephalus10.3
49aneurysm of sinus of valsalva10.3
50chondrodysplasia10.3

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



Diseases related to osteogenesis imperfecta

Symptoms for Osteogenesis Imperfecta

About this section
Sources:
48OMIM
See all sources


Clinical features from OMIM:

166220,166200,610915,610682,259440,610854,166240,166210,259420,610968

Drugs & Therapeutics for Osteogenesis Imperfecta

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Osteogenesis Imperfecta

Drug clinical trials:

Search ClinicalTrials for Osteogenesis Imperfecta

Search NIH Clinical Center for Osteogenesis Imperfecta

Search CenterWatch for Osteogenesis Imperfecta

Inferred drug relations via UMLS63/NDF-RT42:

Genetic Tests for Osteogenesis Imperfecta

About this section
Sources:
21GeneTests, 23GTR
See all sources

Genetic tests related to Osteogenesis Imperfecta:

id Genetic test Affiliating Genes
1 Osteogenesis Imperfecta21 23

Anatomical Context for Osteogenesis Imperfecta

About this section
Sources:
34MalaCards
See all sources

MalaCards organs/tissues related to Osteogenesis Imperfecta:

34
Bone, Skin, Testes, Bone marrow, Breast, Heart, Colon, Uterus, Lung, Skeletal muscle, Endothelial

Animal Models for Osteogenesis Imperfecta or affiliated genes

About this section
Sources:
38MGI
See all sources

MGI Mouse Phenotypes related to Osteogenesis Imperfecta:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053758.8CD36, COL1A1, LEPRE1
2MP:00107718.5PPIB, LEPRE1, COL1A1, COL1A2
3MP:00053698.3CD36, COL1A2, COL1A1, LEPRE1
4MP:00053907.6CD36, CRTAP, COL1A2, COL1A1, LEPRE1, PPIB
5MP:00053787.5PPIB, LEPRE1, COL1A1, COL1A2, CRTAP, CD36

Publications for Osteogenesis Imperfecta

About this section
Sources:
53PubMed
See all sources

Articles related to Osteogenesis Imperfecta:

(show top 50)    (show all 824)
idTitleAuthorsYear
1
Serum Sclerostin Levels are Decreased in Adult Patients with Different Types of Osteogenesis Imperfecta. (24203063)
2013
2
Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen. (22949511)
2013
3
Spinal deformities and Lung Function in Adults with Osteogenesis Imperfecta. (24308436)
2013
4
Evaluation of the severity of malocclusions in children affected by osteogenesis imperfecta with the peer assessment rating and discrepancy indexes. (23452967)
2013
5
Prenatal diagnosis of a missense mutation of c.2279G>A, Gly760Glu in exon 37 of COL1A2 in a fetus with familial osteogenesis imperfecta type IV and favorable outcome. (23548243)
2013
6
Phenotype and genotype analysis of Chinese patients with osteogenesis imperfecta type V. (23977282)
2013
7
Valvular and aortic diseases in osteogenesis imperfecta. (23791715)
2013
8
Intravenous pamidronate treatment in children with moderate-to-severe osteogenesis imperfecta started under three years of age. (23735642)
2013
9
Osteogenesis imperfecta type I: second-trimester diagnosis and incidental identification of a dominant COL1A1 deletion mutation in the paucisymptomatic father. (22795108)
2012
10
Assessment of quality of life of parents of children with osteogenesis imperfecta. (23214306)
2012
11
Safety and efficacy of a 1-year treatment with zoledronic acid compared with pamidronate in children with osteogenesis imperfecta. (22876543)
2012
12
Identification of a deletion mutation in the short flanking repeat region of exon 44 of the COL1A1 gene in a fetus with osteogenesis imperfecta type II. (22795119)
2012
13
Dentinogenesis imperfecta associated with osteogenesis imperfecta. (23162594)
2012
14
Intravitreal bevacizumab for treatment of choroidal neovascularization associated with osteogenesis imperfecta. (22569391)
2012
15
Osteogenesis imperfecta presenting as aneurysmal subarachnoid haemorrhage in a 53-year-old man. (22674700)
2011
16
Osteogenesis imperfecta, multiple intra-abdominal arterial dissections and a ruptured dissecting-type intracranial aneurysm. (22005702)
2011
17
Lack of cyclophilin B in osteogenesis imperfecta with normal collagen folding. (20089953)
2010
18
The potential research impact of patient reported outcomes on osteogenesis imperfecta. (20458644)
2010
19
Incomplete abortion at 13 weeks' gestation due to extreme pelvic deformity in a woman with severe osteogenesis imperfecta. (20143985)
2010
20
Metaphyseal bands in osteogenesis imperfecta. (20351992)
2010
21
Amelioration of a mouse model of osteogenesis imperfecta with hematopoietic stem cell transplantation: microcomputed tomography studies. (20417683)
2010
22
Skeletal muscle weakness in osteogenesis imperfecta mice. (20619344)
2010
23
Bone: Promising combination therapy for children with osteogenesis imperfecta. (21080546)
2010
24
Valvular heart disease in osteogenesis imperfecta: presentation of a case and review of the literature. (19725849)
2010
25
Intravenous pamidronate in osteogenesis imperfecta type VII. (19137231)
2009
26
A fracture risk assessment model of the femur in children with osteogenesis imperfecta (OI) during gait. (19683956)
2009
27
Clinical features of osteogenesis imperfecta in Taiwan. (19586831)
2009
28
A novel arginine-to-cysteine substitution in the triple helical region of the alpha1(I) collagen chain in a family with an osteogenesis imperfecta/Ehlers-Danlos phenotype. (18028452)
2008
29
Case report: endourologic treatment for a ureteral stone in a patient with osteogenesis imperfecta. (18355141)
2008
30
Cochlear implantation in 3 patients with osteogenesis imperfecta: imaging, surgery and programming issues. (18057871)
2008
31
Quantitative second harmonic generation imaging of the diseased state osteogenesis imperfecta: experiment and simulation. (18281387)
2008
32
Prospective comparative case study of uterine collagen in a woman with osteogenesis imperfecta type 1 who had previously ruptured her uterus. (17999312)
2007
33
Second-trimester diagnosis of osteogenesis imperfecta associated with schizencephaly by sonography. (17676222)
2007
34
Gene mutation analysis of a Chinese family with osteogenesis imperfecta]. (16604495)
2006
35
Osteogenesis imperfecta type VI: a form of brittle bone disease with a mineralization defect. (11771667)
2002
36
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
37
Bisphosphonate therapy for severe osteogenesis imperfecta. (11086652)
2000
38
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
39
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
40
A single amino acid deletion in the alpha 2(I) chain of type I collagen produces osteogenesis imperfecta type III. (8444468)
1993
41
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
42
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
43
Mutation in a gene for type I procollagen (COL1A2) in a woman with postmenopausal osteoporosis: evidence for phenotypic and genotypic overlap with mild osteogenesis imperfecta. (2052622)
1991
44
Osteogenesis imperfecta: translation of mutation to phenotype. (1895312)
1991
45
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
46
Variable expression of osteogenesis imperfecta in a nuclear family is explained by somatic mosaicism for a lethal point mutation in the alpha 1(I) gene (COL1A1) of type I collagen in a parent. (2339700)
1990
47
A point mutation in a type I procollagen gene converts glycine 748 of the alpha 1 chain to cysteine and destabilizes the triple helix in a lethal variant of osteogenesis imperfecta. (3667599)
1987
48
Osteogenesis imperfecta: cloning of a pro-alpha 2(I) collagen gene with a frameshift mutation. (6092353)
1984
49
Lethal forms of hereditary collagen disorders: Ehlers-Danlos syndrome type IV and congenital osteogenesis imperfecta. (7163269)
1982
50
Aortic regurgitation and aneurysm of sinus of Valsalva associated with osteogenesis imperfecta. (4698138)
1973

Variations for Osteogenesis Imperfecta

About this section
Sources:
1 National Center for Biotechnology Information (Clinvar)
See all sources

Clinvar genetic disease variations for Osteogenesis Imperfecta:

1
id Gene Name Type Significance SNP ID Assembly Location
1COL1A1NM_000088.3(COL1A1): c.994G> A (p.Gly332Arg)single nucleotide variantPathogenicrs72645357GRCh37Chr 17, 48273524: 48273524

Expression for genes affiliated with Osteogenesis Imperfecta

About this section
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Osteogenesis Imperfecta

Search GEO for disease gene expression data for Osteogenesis Imperfecta.

Pathways for genes affiliated with Osteogenesis Imperfecta

About this section
Sources:
51PathCards, 39NCBI BioSystems Database, 61Thomson Reuters, 56Reactome, 31KEGG, 13EMD Millipore, 54QIAGEN, 52PharmGKB
See all sources

Pathways related to Osteogenesis Imperfecta according to GeneCards/GeneDecks:

(show all 14)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8COL1A2, COL1A1
29.8COL1A2, COL1A1
3
Show member pathways
9.8COL1A2, COL1A1
49.8COL1A2, COL1A1
59.8COL1A1, COL1A2
6
Show member pathways
9.8COL1A1, COL1A2
79.8COL1A1, COL1A2
89.8COL1A1, COL1A2
9
Show member pathways
8.9COL1A2, COL1A1, CD36
108.9COL1A2, COL1A1, CD36
11
Show member pathways
Integrin-mediated cell adhesion39
Focal Adhesion39
8.9COL1A1, COL1A2, CD36
12
Show member pathways
8.9COL1A1, COL1A2, CD36
13
Show member pathways
8.4LEPRE1, COL1A1, CRTAP, PPIB, COL1A2
14
Show member pathways
8.4COL1A2, CRTAP, COL1A1, LEPRE1, PPIB

Compounds for genes affiliated with Osteogenesis Imperfecta

About this section
Sources:
46Novoseek, 30IUPHAR, 62Tocris Bioscience, 25HMDB, 12DrugBank
See all sources

Compounds related to Osteogenesis Imperfecta according to GeneCards/GeneDecks:

(show all 16)
idCompoundScoreTop Affiliating Genes
1nppa4610.0COL1A2, COL1A1
2carbodiimide4610.0COL1A2, COL1A1
3nppb30 46 6212.0COL1A1, COL1A2
4xbai4610.0COL1A2, COL1A1
5ecori4610.0COL1A2, COL1A1
6rsai469.9COL1A1, COL1A2
7mspi469.8COL1A1, COL1A2
8L-Proline25 1210.7PPIB, LEPRE1
9cyanogen bromide469.5CD36, COL1A2
10procollagen469.2CD36, COL1A2, COL1A1
11hydroxyproline46 25 1211.2CD36, COL1A1
12vitamin d469.0CD36, COL1A2, COL1A1
13glycosaminoglycan469.0SERPINF1, COL1A1, CD36
14cysteine468.5SERPINF1, COL1A1, COL1A2, CD36
15serine468.4CD36, COL1A2, COL1A1, SERPINF1
16heparin46 30 25 1211.4PPIB, SERPINF1, CD36

GO Terms for genes affiliated with Osteogenesis Imperfecta

About this section
Sources:
17Gene Ontology
See all sources

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

idNameGO IDScoreTop Affiliating Genes
1collagen type IGO:0055849.9COL1A2, COL1A1
2extracellular matrixGO:0310129.3COL1A2, COL1A1, SERPINF1
3macromolecular complexGO:0329919.3CRTAP, LEPRE1, PPIB
4melanosomeGO:0424709.2SERPINF1, PPIB
5endoplasmic reticulumGO:0057839.1CRTAP, LEPRE1, PPIB
6extracellular spaceGO:0056158.8SERPINF1, COL1A1, COL1A2, CRTAP
7extracellular vesicular exosomeGO:0700628.5PPIB, LEPRE1, SERPINF1, COL1A2
8endoplasmic reticulum lumenGO:0057888.5PPIB, LEPRE1, COL1A1, COL1A2, CRTAP

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

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1skin morphogenesisGO:04358910.0COL1A2, COL1A1
2protein heterotrimerizationGO:07020810.0COL1A1, COL1A2
3blood vessel developmentGO:0015689.9COL1A2, COL1A1
4cellular response to amino acid stimulusGO:0712309.8COL1A1, COL1A2
5negative regulation of post-translational protein modificationGO:19018749.8CRTAP, LEPRE1
6leukocyte migrationGO:0509009.8COL1A2, COL1A1
7collagen catabolic processGO:0305749.7COL1A1, COL1A2
8bone developmentGO:0603489.6LEPRE1, PPIB
9collagen fibril organizationGO:0301999.5LEPRE1, COL1A1, COL1A2
10extracellular matrix disassemblyGO:0226179.5COL1A2, COL1A1
11chaperone-mediated protein foldingGO:0610779.4CRTAP, LEPRE1, PPIB
12protein stabilizationGO:0508219.3CRTAP, LEPRE1, PPIB
13platelet activationGO:0301689.1CD36, COL1A2, COL1A1
14blood coagulationGO:0075968.9CD36, COL1A2, COL1A1
15extracellular matrix organizationGO:0301988.7CRTAP, COL1A2, COL1A1, LEPRE1, PPIB

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

idNameGO IDScoreTop Affiliating Genes
1platelet-derived growth factor bindingGO:0484079.8COL1A2, COL1A1
2collagen bindingGO:0055189.5LEPRE1, PPIB
3extracellular matrix structural constituentGO:0052019.5COL1A2, COL1A1
4protein complex bindingGO:0324039.0CRTAP, LEPRE1, PPIB

Products for genes affiliated with Osteogenesis Imperfecta

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Osteogenesis Imperfecta

About this section
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