OI
MCID: OST005
MIFTS: 74

Osteogenesis Imperfecta (OI) malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases, Oral diseases categories
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Summaries for Osteogenesis Imperfecta

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MedlinePlus:33 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 based summary: 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 Cell adhesion Endothelial cell contacts by non junctional mechanisms and Development Hedgehog and PTH signaling pathways in bone and cartilage development. 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 growth/size/body and muscle.

Disease Ontology:8 An osteochondrodysplasia that has material basis in a deficiency in type-i collagen which results in brittle bones and defective connective tissue.

Genetics Home Reference:21 Osteogenesis imperfecta (OI) is a group of genetic disorders that mainly affect the bones. The term "osteogenesis imperfecta" means imperfect bone formation. 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.

NIH Rare Diseases:42 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:65 Osteogenesis imperfecta (OI and sometimes known as brittle bone disease, or \"Lobstein syndrome\") is a... more...

Descriptions from OMIM:46 610915, 610682, 166240, 166210, 166200 259440, 166220, 610968, 259420, 610854 more

Aliases & Classifications for Osteogenesis Imperfecta

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Osteogenesis Imperfecta, Aliases & Descriptions:

Name: Osteogenesis Imperfecta 8 65 42 20 22 21 10 44 33 62
Brittle Bone Disease 8 65 42 21
Fragilitas Ossium 65 42 21
Vrolik Disease 65 42 21
Oi 65 42 21
 
Osteopsathyrosis 8 65
Osteogenesis Imperfecta, Recessive Perinatal Lethal 62
Ekman-Lobstein Disease 65
Lobstein's Syndrome 8
Vrolik's Disease 8


Classifications:



Related Diseases for Osteogenesis Imperfecta

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

(show top 50)    (show all 161)
idRelated DiseaseScoreTop Affiliating Genes
1osteogenesis imperfecta type i32.1COL1A2, COL1A1
2osteogenesis imperfecta type iii32.0COL1A2, COL1A1
3osteogenesis imperfecta, type ii31.7COL1A1, COL1A2
4osteogenesis imperfecta type 431.4COL1A1, COL1A2
5col1a1/2-related osteogenesis imperfecta31.2COL1A1, COL1A2
6ehlers-danlos syndrome31.1COL1A1, COL1A2, CD36
7idiopathic juvenile osteoporosis30.8CD36, COL1A2
8dentinogenesis imperfecta30.7COL1A2, COL1A1, FKBP10, LEPRE1, CRTAP, CD36
9otosclerosis30.7COL1A1, COL1A2, CD36
10osteoporosis30.6COL1A2, SP7, COL1A1, CD36
11marfan syndrome30.5COL1A2, CD36
12connective tissue disease30.4COL1A1, COL1A2, CD36
13osteoarthritis30.2COL1A2, CD36, COL1A1
14osteogenesis imperfecta type 610.7
15perinatally lethal osteogenesis imperfecta10.7
16osteogenesis imperfecta type 510.6
17osteogenesis imperfecta type 910.6
18osteogenesis imperfecta, type xv10.6
19osteogenesis imperfecta type 2a10.6
20osteogenesis imperfecta type 810.6
21osteogenesis imperfecta type 710.6
22aneurysm10.6
23osteogenesis imperfecta levin type10.5
24osteogenesis imperfecta type xiii10.5
25dentinogenesis imperfecta 110.5
26osteogenesis imperfecta type 1a10.5
27osteoporosis-pseudoglioma syndrome10.5
28progressively deforming osteogenesis imperfecta10.5
29osteogenesis imperfecta type xi10.5
30osteogenesis imperfecta type xii10.5
31caffey disease10.5COL1A1
32osteonecrosis10.4
33osteogenesis imperfecta type 2b10.4
34osteogenesis imperfecta type x10.4
35osteogenesis imperfecta, type xiv10.4
36congenital osteogenesis imperfecta - microcephaly - cataracts10.4
37high bone mass osteogenesis imperfecta10.4
38hydrocephalus10.4
39spondylolysis10.4
40hypophosphatasia10.4
41reflex sympathetic dystrophy10.4
42cerebritis10.4
43breast cancer10.4
44cerebellar hypoplasia10.4
45oi type ii10.4
46postural orthostatic tachycardia syndrome10.4
47ehlers–danlos syndrome classical type10.3COL1A2, COL1A1
48spondylolisthesis10.3
49fibrous dysplasia10.3
50respiratory failure10.3

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



Diseases related to osteogenesis imperfecta

Symptoms for Osteogenesis Imperfecta

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Clinical features from OMIM:

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

Drugs & Therapeutics for Osteogenesis Imperfecta

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Drug clinical trials:

Search ClinicalTrials for Osteogenesis Imperfecta

Search NIH Clinical Center for Osteogenesis Imperfecta

Inferred drug relations via UMLS62/NDF-RT40:

Genetic Tests for Osteogenesis Imperfecta

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Genetic tests related to Osteogenesis Imperfecta:

id Genetic test Affiliating Genes
1 Osteogenesis Imperfecta20 22

Anatomical Context for Osteogenesis Imperfecta

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MalaCards organs/tissues related to Osteogenesis Imperfecta:

32
Bone, Skin, Testes, Bone marrow, Breast, Heart, Colon, Skeletal muscle, Lung, Thyroid, Uterus, Endothelial

Animal Models for Osteogenesis Imperfecta or affiliated genes

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MGI Mouse Phenotypes related to Osteogenesis Imperfecta:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053788.4CD36, CRTAP, COL1A2, COL1A1, PPIB, LEPRE1
2MP:00053698.2LEPRE1, CD36, COL1A2, COL1A1, WNT1
3MP:00053718.0LEPRE1, FKBP10, COL1A1, COL1A2, SP7
4MP:00053907.1CD36, PPIB, SP7, LEPRE1, WNT1, COL1A1

Publications for Osteogenesis Imperfecta

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Articles related to Osteogenesis Imperfecta:

(show top 50)    (show all 864)
idTitleAuthorsYear
1
Osteogenesis imperfecta--multi-systemic and life-long disease that affects whole family. (25145021)
2014
2
Effect of intravenous pamidronate treatment in children with osteogenesis imperfecta. (25233970)
2014
3
Serum Sclerostin Levels are Decreased in Adult Patients with Different Types of Osteogenesis Imperfecta. (24203063)
2013
4
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
5
Spinal deformities and Lung Function in Adults with Osteogenesis Imperfecta. (24308436)
2013
6
Evaluation of the severity of malocclusions in children affected by osteogenesis imperfecta with the peer assessment rating and discrepancy indexes. (23452967)
2013
7
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
8
Phenotype and genotype analysis of Chinese patients with osteogenesis imperfecta type V. (23977282)
2013
9
Valvular and aortic diseases in osteogenesis imperfecta. (23791715)
2013
10
Intravenous pamidronate treatment in children with moderate-to-severe osteogenesis imperfecta started under three years of age. (23735642)
2013
11
Osteogenesis imperfecta type I: second-trimester diagnosis and incidental identification of a dominant COL1A1 deletion mutation in the paucisymptomatic father. (22795108)
2012
12
Assessment of quality of life of parents of children with osteogenesis imperfecta. (23214306)
2012
13
Safety and efficacy of a 1-year treatment with zoledronic acid compared with pamidronate in children with osteogenesis imperfecta. (22876543)
2012
14
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
15
Dentinogenesis imperfecta associated with osteogenesis imperfecta. (23162594)
2012
16
Intravitreal bevacizumab for treatment of choroidal neovascularization associated with osteogenesis imperfecta. (22569391)
2012
17
Osteogenesis imperfecta presenting as aneurysmal subarachnoid haemorrhage in a 53-year-old man. (22674700)
2011
18
Osteogenesis imperfecta, multiple intra-abdominal arterial dissections and a ruptured dissecting-type intracranial aneurysm. (22005702)
2011
19
Lack of cyclophilin B in osteogenesis imperfecta with normal collagen folding. (20089953)
2010
20
The potential research impact of patient reported outcomes on osteogenesis imperfecta. (20458644)
2010
21
Incomplete abortion at 13 weeks' gestation due to extreme pelvic deformity in a woman with severe osteogenesis imperfecta. (20143985)
2010
22
Metaphyseal bands in osteogenesis imperfecta. (20351992)
2010
23
Amelioration of a mouse model of osteogenesis imperfecta with hematopoietic stem cell transplantation: microcomputed tomography studies. (20417683)
2010
24
Skeletal muscle weakness in osteogenesis imperfecta mice. (20619344)
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
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
39
A single amino acid deletion in the alpha 2(I) chain of type I collagen produces osteogenesis imperfecta type III. (8444468)
1993
40
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
41
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
42
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
43
Osteogenesis imperfecta: translation of mutation to phenotype. (1895312)
1991
44
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
45
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
46
Hydrocephalus of intrauterine onset in perinatally lethal osteogenesis imperfecta: clinical, sonographic, and pathologic correlations. (3062601)
1988
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

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Clinvar genetic disease variations for Osteogenesis Imperfecta:

6 (show all 42)
id Gene Name Type Significance SNP ID Assembly Location
1COL1A2NM_000089.3(COL1A2): c.2720G> A (p.Gly907Asp)single nucleotide variantPathogenicrs121912900GRCh37Chr 7, 94054475: 94054475
2COL1A2NM_000089.3(COL1A2): c.1640G> A (p.Gly547Asp)single nucleotide variantPathogenicrs121912901GRCh37Chr 7, 94043234: 94043234
3COL1A2NM_000089.3(COL1A2): c.2593G> A (p.Gly865Ser)single nucleotide variantPathogenicrs121912902GRCh37Chr 7, 94053675: 94053675
4COL1A2NM_000089.3(COL1A2): c.2414G> A (p.Gly805Asp)single nucleotide variantPathogenicrs121912904GRCh37Chr 7, 94052279: 94052279
5COL1A2NM_000089.3(COL1A2): c.775G> T (p.Gly259Cys)single nucleotide variantPathogenicrs121912905GRCh37Chr 7, 94038118: 94038118
6COL1A2NM_000089.3(COL1A2): c.1414G> T (p.Gly472Cys)single nucleotide variantPathogenicrs121912906GRCh37Chr 7, 94041905: 94041905
7COL1A2NM_000089.3(COL1A2): c.2080G> C (p.Gly694Arg)single nucleotide variantPathogenicrs121912908GRCh37Chr 7, 94049545: 94049545
8COL1A2NM_000089.3(COL1A2): c.1739G> A (p.Gly580Asp)single nucleotide variantPathogenicrs121912909GRCh37Chr 7, 94044557: 94044557
9COL1A2NM_000089.3(COL1A2): c.1504G> A (p.Gly502Ser)single nucleotide variantPathogenicrs121912910GRCh37Chr 7, 94042395: 94042395
10COL1A2NM_000089.3(COL1A2): c.1262G> A (p.Gly421Asp)single nucleotide variantPathogenicrs267606741GRCh37Chr 7, 94040378: 94040378
11COL1A1NM_000088.3(COL1A1): c.824G> A (p.Gly275Asp)single nucleotide variantPathogenicrs72645333GRCh37Chr 17, 48274012: 48274012
12COL1A1NM_000088.3(COL1A1): c.1705G> C (p.Gly569Arg)single nucleotide variantPathogenicrs72648363GRCh37Chr 17, 48271366: 48271366
13COL1A1NM_000088.3(COL1A1): c.2210G> A (p.Gly737Asp)single nucleotide variantPathogenicrs72651651GRCh37Chr 17, 48268769: 48268769
14COL1A1NM_000088.3(COL1A1): c.2552G> A (p.Gly851Asp)single nucleotide variantPathogenicrs72653137GRCh37Chr 17, 48267369: 48267369
15COL1A1NM_000088.3(COL1A1): c.2533G> A (p.Gly845Arg)single nucleotide variantPathogenicrs72653136GRCh37Chr 17, 48267388: 48267388
16COL1A1NM_000088.3(COL1A1): c.2605G> T (p.Gly869Cys)single nucleotide variantPathogenicrs72653143GRCh37Chr 17, 48267228: 48267228
17COL1A1NM_000088.3(COL1A1): c.2686G> T (p.Gly896Cys)single nucleotide variantPathogenicrs72653152GRCh37Chr 17, 48266881: 48266881
18COL1A1NM_000088.3(COL1A1): c.2776G> T (p.Gly926Cys)single nucleotide variantPathogenicrs72653154GRCh37Chr 17, 48266791: 48266791
19COL1A1NM_000088.3(COL1A1): c.3073G> A (p.Gly1025Arg)single nucleotide variantPathogenicrs72653172GRCh37Chr 17, 48266129: 48266129
20COL1A1NM_000088.3(COL1A1): c.3182G> A (p.Gly1061Asp)single nucleotide variantPathogenicrs72654797GRCh37Chr 17, 48265916: 48265916
21COL1A1NM_000088.3(COL1A1): c.3244G> T (p.Gly1082Cys)single nucleotide variantPathogenicrs72656303GRCh37Chr 17, 48265474: 48265474
22COL1A1NM_000088.3(COL1A1): c.3271G> A (p.Gly1091Ser)single nucleotide variantPathogenicrs72656306GRCh37Chr 17, 48265335: 48265335
23COL1A1NM_000088.3(COL1A1): c.3496G> T (p.Gly1166Cys)single nucleotide variantPathogenicrs72656324GRCh37Chr 17, 48264411: 48264411
24COL1A1NM_000088.3(COL1A1): c.3559G> A (p.Gly1187Ser)single nucleotide variantPathogenicrs72656332GRCh37Chr 17, 48264256: 48264256
25COL1A1NM_000088.3(COL1A1): c.3583G> T (p.Gly1195Cys)single nucleotide variantPathogenicrs72656334GRCh37Chr 17, 48264232: 48264232
26COL1A1NM_000088.3(COL1A1): c.2156G> A (p.Gly719Asp)single nucleotide variantPathogenicrs72651646GRCh37Chr 17, 48268823: 48268823
27COL1A1NM_000088.3(COL1A1): c.994G> A (p.Gly332Arg)single nucleotide variantPathogenicrs72645357GRCh37Chr 17, 48273524: 48273524
28COL1A1NM_000088.3(COL1A1): c.3541G> A (p.Gly1181Ser)single nucleotide variantPathogenicrs72656330GRCh37Chr 17, 48264274: 48264274
29COL1A1NM_000088.3(COL1A1): c.2444G> T (p.Gly815Val)single nucleotide variantPathogenicrs66929517GRCh37Chr 17, 48267695: 48267695
30COL1A1NM_000088.3(COL1A1): c.787G> A (p.Gly263Arg)single nucleotide variantPathogenicrs72645323GRCh37Chr 17, 48274388: 48274388
31COL1A1NM_000088.3(COL1A1): c.3452G> T (p.Gly1151Val)single nucleotide variantPathogenicrs72656321GRCh37Chr 17, 48264455: 48264455
32COL1A1NM_000088.3(COL1A1): c.1301G> T (p.Gly434Val)single nucleotide variantPathogenicrs72648333GRCh37Chr 17, 48272460: 48272460
33COL1A1NM_000088.3(COL1A1): c.2939G> T (p.Gly980Val)single nucleotide variantPathogenicrs72653166GRCh37Chr 17, 48266370: 48266370
34COL1A1NM_000088.3(COL1A1): c.1777G> A (p.Gly593Ser)single nucleotide variantPathogenicrs66527965GRCh37Chr 17, 48270399: 48270399
35COL1A1NM_000088.3(COL1A1): c.2228G> T (p.Gly743Val)single nucleotide variantPathogenicrs72651653GRCh37Chr 17, 48268751: 48268751
36COL1A1NM_000088.3(COL1A1): c.1598G> A (p.Gly533Asp)single nucleotide variantPathogenicrs72648356GRCh37Chr 17, 48271726: 48271726
37COL1A1NM_000088.3(COL1A1): c.2291G> T (p.Gly764Val)single nucleotide variantPathogenicrs72651657GRCh37Chr 17, 48268230: 48268230
38COL1A1NM_000088.3(COL1A1): c.1200+1G> Asingle nucleotide variantPathogenicrs72648320GRCh37Chr 17, 48272794: 48272794
39COL1A1NM_000088.3(COL1A1): c.3076C> T (p.Arg1026Ter)single nucleotide variantPathogenicrs72653173GRCh37Chr 17, 48266126: 48266126
40COL1A2NM_000089.3(COL1A2): c.838G> A (p.Gly280Ser)single nucleotide variantPathogenicrs72656387GRCh37Chr 7, 94038679: 94038679
41COL1A1NM_000088.3(COL1A1): c.4247delC (p.Thr1416Argfs)deletionPathogenicrs398122835GRCh37Chr 17, 48263140: 48263140
42COL1A1NM_000088.3(COL1A1): c.4160C> T (p.Ala1387Val)single nucleotide variantPathogenicrs397514672GRCh37Chr 17, 48263227: 48263227

Expression for genes affiliated with Osteogenesis Imperfecta

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Expression patterns in normal tissues for genes affiliated with Osteogenesis Imperfecta

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Pathways for genes affiliated with Osteogenesis Imperfecta

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Pathways related to Osteogenesis Imperfecta according to GeneCards/GeneDecks:

(show all 11)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9COL1A2, COL1A1
29.9COL1A1, COL1A2
39.9COL1A1, COL1A2
4
Show member pathways
9.9COL1A2, COL1A1
59.9COL1A1, COL1A2
69.7WNT1, COL1A2
79.4CD36, COL1A1, COL1A2
8
Show member pathways
9.4COL1A2, CD36, COL1A1
9
Show member pathways
Integrin-mediated cell adhesion37
Focal Adhesion37
9.4COL1A2, CD36, COL1A1
10
Show member pathways
8.9COL1A2, COL1A1, LEPRE1, PPIB, CRTAP
11
Show member pathways
8.9CRTAP, PPIB, LEPRE1, COL1A1, COL1A2

Compounds for genes affiliated with Osteogenesis Imperfecta

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Compounds related to Osteogenesis Imperfecta according to GeneCards/GeneDecks:

(show all 21)
idCompoundScoreTop Affiliating Genes
1nppa4410.2COL1A1, COL1A2
2carbodiimide4410.2COL1A1, COL1A2
3nppb28 44 6112.2COL1A1, COL1A2
4xbai4410.2COL1A1, COL1A2
5ecori4410.2COL1A1, COL1A2
6rsai4410.1COL1A1, COL1A2
7mspi4410.0COL1A2, COL1A1
8cyanogen bromide4410.0COL1A2, CD36
9L-Proline24 1111.0PPIB, LEPRE1
10procollagen449.8COL1A2, CD36, COL1A1
11vitamin d449.5CD36, COL1A1, COL1A2
12glycosaminoglycan449.5SERPINF1, CD36, COL1A1
13alizarin449.5CD36, SP7
14hydroxyproline44 24 1111.4COL1A1, CD36
15ascorbic acid44 2410.0SP7, LEPRE1, CD36
16estrogen449.0WNT1, CD36, COL1A2, COL1A1
17cysteine448.8CD36, SERPINF1, COL1A1, COL1A2
18retinoic acid44 249.7WNT1, SERPINF1, CD36, COL1A1
19dexamethasone44 50 28 1111.6SERPINF1, COL1A1, CD36, SP7
20vegf448.6SERPINF1, SP7, CD36, COL1A1
21calcium44 50 24 1111.1COL1A2, CD36, COL1A1, SERPINF1, SP7

GO Terms for genes affiliated with Osteogenesis Imperfecta

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

idNameGO IDScoreTop Affiliating Genes
1collagen type IGO:0055849.9COL1A1, COL1A2
2macromolecular complexGO:0329919.5CRTAP, LEPRE1, PPIB
3proteinaceous extracellular matrixGO:0055789.3CRTAP, WNT1, LEPRE1
4extracellular matrixGO:0310129.1SERPINF1, COL1A1, COL1A2
5extracellular spaceGO:0056158.4CRTAP, COL1A2, COL1A1, WNT1, SERPINF1
6endoplasmic reticulum lumenGO:0057887.8CRTAP, PPIB, LEPRE1, FKBP10, WNT1, COL1A1

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

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1skin morphogenesisGO:04358910.1COL1A1, COL1A2
2protein heterotrimerizationGO:07020810.1COL1A2, COL1A1
3negative regulation of post-translational protein modificationGO:190187410.0CRTAP, LEPRE1
4blood vessel developmentGO:0015689.9COL1A2, COL1A1
5collagen catabolic processGO:0305749.9COL1A2, COL1A1
6negative regulation of cell-substrate adhesionGO:0108129.8COL1A1, WNT1
7cellular response to amino acid stimulusGO:0712309.8COL1A2, COL1A1
8collagen fibril organizationGO:0301999.8LEPRE1, COL1A1, COL1A2
9chaperone-mediated protein foldingGO:0610779.7CRTAP, LEPRE1, PPIB
10protein stabilizationGO:0508219.7CRTAP, LEPRE1, PPIB
11protein peptidyl-prolyl isomerizationGO:0004139.6FKBP10, PPIB
12bone developmentGO:0603489.5PPIB, LEPRE1, WNT1
13platelet activationGO:0301689.5COL1A1, COL1A2, CD36
14extracellular matrix organizationGO:0301989.1CRTAP, COL1A2, COL1A1, LEPRE1, PPIB
15osteoblast differentiationGO:0016499.1COL1A1, SP7

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

idNameGO IDScoreTop Affiliating Genes
1platelet-derived growth factor bindingGO:04840710.0COL1A2, COL1A1
2collagen bindingGO:0055189.8LEPRE1, PPIB
3extracellular matrix structural constituentGO:0052019.6COL1A2, COL1A1
4protein complex bindingGO:0324039.4CRTAP, LEPRE1, PPIB
5peptidyl-prolyl cis-trans isomerase activityGO:0037559.4PPIB, FKBP10

Products for genes affiliated with Osteogenesis Imperfecta

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Sources for Osteogenesis Imperfecta

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet