MCID: CL1004
MIFTS: 30

Col1a1/2-Related Osteogenesis Imperfecta malady

Genetic diseases (common), Bone diseases categories

Aliases & Classifications for Col1a1/2-Related Osteogenesis Imperfecta

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Col1a1/2-Related Osteogenesis Imperfecta, Aliases & Descriptions:

Name: Col1a1/2-Related Osteogenesis Imperfecta 19 20
Osteogenesis Imperfecta 60
 
Brittle Bone Disease 19
Oi 19


Classifications:

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


Summaries for Col1a1/2-Related Osteogenesis Imperfecta

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MalaCards based summary: Col1a1/2-Related Osteogenesis Imperfecta, also known as osteogenesis imperfecta, is related to osteogenesis imperfecta, type iv and osteogenesis imperfecta, type iii. An important gene associated with Col1a1/2-Related Osteogenesis Imperfecta is COL1A2 (collagen, type I, alpha 2), and among its related pathways are Development Endothelin 1 EDNRA signaling and Development Angiotensin activation of ERK. 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, and related mouse phenotype limbs/digits/tail.

GeneReviews summary for oi

Related Diseases for Col1a1/2-Related Osteogenesis Imperfecta

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Diseases related to Col1a1/2-Related Osteogenesis Imperfecta via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 37)
idRelated DiseaseScoreTop Affiliating Genes
1osteogenesis imperfecta, type iv30.8COL1A2, COL1A1
2osteogenesis imperfecta, type iii30.5COL1A1, COL1A2
3osteogenesis imperfecta, type i30.5COL1A2, COL1A1
4osteogenesis imperfecta30.5COL1A2, COL1A1
5osteogenesis imperfecta, type ii30.4COL1A1, COL1A2
6dentinogenesis imperfecta29.9COL1A2, COL1A1
7osteoporosis29.6COL1A1, COL1A2
8osteogenesis imperfecta, type v10.6
9osteogenesis imperfecta, type viii10.5
10osteogenesis imperfecta, type xiii10.4
11osteogenesis imperfecta, type xiv10.4
12osteogenesis imperfecta, type xv10.4
13postural orthostatic tachycardia syndrome10.4
14osteogenesis imperfecta, type vii10.3
15osteogenesis imperfecta, type xi10.2
16chronic orthostatic intolerance10.2
17osteogenesis imperfecta, type x10.1
18osteogenesis imperfecta, type xii10.1
19osteogenesis imperfecta, type ix10.1
20orthostatic intolerance10.1
21dentinogenesis imperfecta, shields type ii10.1
22osteogenesis imperfecta type 2a10.1
23osteogenesis imperfecta, type vi10.1
24cole carpenter syndrome10.1
25osteogenesis imperfecta type 2b10.1
26ehlers-danlos syndrome, type i10.0COL1A2, COL1A1
27otosclerosis10.0COL1A1, COL1A2
28tooth agenesis10.0
29osteogenesis imperfecta type 1a10.0
30perinatally lethal osteogenesis imperfecta10.0
31ehlers-danlos/osteogenesis imperfecta syndrome10.0
32high bone mass osteogenesis imperfecta10.0
33ehlers-danlos syndrome9.9COL1A1, COL1A2
34connective tissue disease9.9COL1A1, COL1A2
35pulmonary fibrosis9.9COL1A2, COL1A1
36osteoarthritis9.9COL1A2, COL1A1
37systemic scleroderma9.8COL1A2, COL1A1

Graphical network of the top 20 diseases related to Col1a1/2-Related Osteogenesis Imperfecta:



Diseases related to col1a1/2-related osteogenesis imperfecta

Symptoms for Col1a1/2-Related Osteogenesis Imperfecta

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Drugs & Therapeutics for Col1a1/2-Related Osteogenesis Imperfecta

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Drug clinical trials:

Search ClinicalTrials for Col1a1/2-Related Osteogenesis Imperfecta

Search NIH Clinical Center for Col1a1/2-Related Osteogenesis Imperfecta

Inferred drug relations via UMLS60/NDF-RT39:

Genetic Tests for Col1a1/2-Related Osteogenesis Imperfecta

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Genetic tests related to Col1a1/2-Related Osteogenesis Imperfecta:

id Genetic test Affiliating Genes
1 Col1a1/2-Related Osteogenesis Imperfecta20 COL1A1, COL1A2

Anatomical Context for Col1a1/2-Related Osteogenesis Imperfecta

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MalaCards organs/tissues related to Col1a1/2-Related Osteogenesis Imperfecta:

31
Bone

Animal Models for Col1a1/2-Related Osteogenesis Imperfecta or affiliated genes

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MGI Mouse Phenotypes related to Col1a1/2-Related Osteogenesis Imperfecta:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.1COL1A2, COL1A1

Publications for Col1a1/2-Related Osteogenesis Imperfecta

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Articles related to Col1a1/2-Related Osteogenesis Imperfecta:

idTitleAuthorsYear
1
COL1A1/2-Related Osteogenesis Imperfecta (20301472)
1993

Variations for Col1a1/2-Related Osteogenesis Imperfecta

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Clinvar genetic disease variations for Col1a1/2-Related Osteogenesis Imperfecta:

6
id Gene Variation Type Significance SNP ID Assembly Location
1COL1A1NM_000088.3(COL1A1): c.3583G> T (p.Gly1195Cys)single nucleotide variantPathogenicrs72656334GRCh37Chr 17, 48264232: 48264232
2COL1A1NM_000088.3(COL1A1): c.994G> A (p.Gly332Arg)single nucleotide variantPathogenicrs72645357GRCh37Chr 17, 48273524: 48273524
3COL1A1NM_000088.3(COL1A1): c.787G> A (p.Gly263Arg)single nucleotide variantPathogenicrs72645323GRCh37Chr 17, 48274388: 48274388
4COL1A1NM_000088.3(COL1A1): c.1200+1G> Asingle nucleotide variantPathogenicrs72648320GRCh37Chr 17, 48272794: 48272794
5COL1A1NM_000088.3(COL1A1): c.3076C> T (p.Arg1026Ter)single nucleotide variantPathogenicrs72653173GRCh37Chr 17, 48266126: 48266126
6COL1A2NM_000089.3(COL1A2): c.838G> A (p.Gly280Ser)single nucleotide variantPathogenicrs72656387GRCh37Chr 7, 94038679: 94038679

Expression for genes affiliated with Col1a1/2-Related Osteogenesis Imperfecta

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Search GEO for disease gene expression data for Col1a1/2-Related Osteogenesis Imperfecta.

Pathways for genes affiliated with Col1a1/2-Related Osteogenesis Imperfecta

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Pathways related to Col1a1/2-Related Osteogenesis Imperfecta according to GeneCards Suite gene sharing:

(show all 19)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Cytoskeleton remodeling FAK signaling58
Development Endothelin 1 EDNRA transactivation of EGFR58
9.1COL1A2, COL1A1
2
Show member pathways
Development EDNRB signaling58
Development ACM2 and ACM4 activation of ERK58
Cell adhesion Integrin inside out signaling58
Development G Proteins mediated regulation MARK ERK signaling58
Signal transduction IP3 signaling58
Development Angiotensin signaling via PYK258
Development EPO induced MAPK pathway58
9.1COL1A1, COL1A2
3
Show member pathways
Cytoskeleton remodeling Fibronectin binding integrins in cell motility58
Cytoskeleton remodeling Integrin outside in signaling58
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases58
Cell adhesion Tight junctions58
Development MAG dependent inhibition of neurite outgrowth58
9.1COL1A2, COL1A1
4
Show member pathways
9.1COL1A1, COL1A2
5
Show member pathways
Integrin-mediated cell adhesion36
Focal Adhesion36
9.1COL1A2, COL1A1
6
Show member pathways
9.1COL1A2, COL1A1
7
Show member pathways
9.1COL1A2, COL1A1
89.1COL1A2, COL1A1
9
Show member pathways
9.1COL1A2, COL1A1
109.1COL1A1, COL1A2
119.1COL1A2, COL1A1
129.1COL1A2, COL1A1
139.1COL1A2, COL1A1
149.1COL1A1, COL1A2
15
Show member pathways
9.1COL1A2, COL1A1
16
Show member pathways
Metalloproteases in connective tissue degradation
9.1COL1A2, COL1A1
179.1COL1A1, COL1A2
189.1COL1A2, COL1A1
19
Show member pathways
9.1COL1A2, COL1A1

Compounds for genes affiliated with Col1a1/2-Related Osteogenesis Imperfecta

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Compounds related to Col1a1/2-Related Osteogenesis Imperfecta according to GeneCards Suite gene sharing:

(show all 15)
idCompoundScoreTop Affiliating Genes
1nppa439.4COL1A2, COL1A1
2carbodiimide439.4COL1A2, COL1A1
3nppb28 43 5911.4COL1A2, COL1A1
4xbai439.4COL1A1, COL1A2
5ecori439.4COL1A2, COL1A1
6rsai439.4COL1A2, COL1A1
7mspi439.3COL1A2, COL1A1
8procollagen439.3COL1A1, COL1A2
9simvastatin43 49 59 28 24 1214.3COL1A2, COL1A1
10chloramphenicol43 2 49 1212.2COL1A2, COL1A1
11ribonucleic acid439.2COL1A2, COL1A1
12vitamin d439.1COL1A1, COL1A2
13oligonucleotide439.1COL1A2, COL1A1
14thymidine43 2410.0COL1A2, COL1A1
15aspartate438.8COL1A2, COL1A1

GO Terms for genes affiliated with Col1a1/2-Related Osteogenesis Imperfecta

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Cellular components related to Col1a1/2-Related Osteogenesis Imperfecta according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulum lumenGO:00057889.1COL1A2, COL1A1
2collagen type IGO:00055849.0COL1A2, COL1A1
3extracellular matrixGO:00310128.8COL1A2, COL1A1

Biological processes related to Col1a1/2-Related Osteogenesis Imperfecta according to GeneCards Suite gene sharing:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1skin morphogenesisGO:00435899.4COL1A2, COL1A1
2protein heterotrimerizationGO:00702089.4COL1A2, COL1A1
3collagen fibril organizationGO:00301999.4COL1A1, COL1A2
4blood vessel developmentGO:00015689.3COL1A1, COL1A2
5cellular response to amino acid stimulusGO:00712309.3COL1A2, COL1A1
6collagen catabolic processGO:00305749.3COL1A2, COL1A1
7extracellular matrix disassemblyGO:00226179.2COL1A1, COL1A2
8leukocyte migrationGO:00509009.2COL1A2, COL1A1
9skeletal system developmentGO:00015019.1COL1A2, COL1A1
10blood coagulationGO:00075969.1COL1A2, COL1A1
11platelet activationGO:00301689.0COL1A1, COL1A2
12extracellular matrix organizationGO:00301988.8COL1A2, COL1A1

Molecular functions related to Col1a1/2-Related Osteogenesis Imperfecta according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1identical protein bindingGO:00428029.1COL1A2, COL1A1
2platelet-derived growth factor bindingGO:00484079.0COL1A2, COL1A1
3extracellular matrix structural constituentGO:00052018.8COL1A2, COL1A1

Products for genes affiliated with Col1a1/2-Related Osteogenesis Imperfecta

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Sources for Col1a1/2-Related Osteogenesis Imperfecta

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet