OI
MCID: CL1004
MIFTS: 33

Col1a1/2-Related Osteogenesis Imperfecta (OI) malady

Genetic diseases (common), Bone diseases categories
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Summaries for Col1a1/2-Related Osteogenesis Imperfecta

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MalaCards based summary: Col1a1/2-Related Osteogenesis Imperfecta, also known as brittle bone disease, is related to osteogenesis imperfecta type 4 and osteogenesis imperfecta type i. 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

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
Brittle Bone Disease 19 62
 
Oi 19 62


Classifications:

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


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/GeneDecks gene sharing:

(show all 37)
idRelated DiseaseScoreTop Affiliating Genes
1osteogenesis imperfecta type 430.7COL1A1, COL1A2
2osteogenesis imperfecta type i30.5COL1A1, COL1A2
3osteogenesis imperfecta30.5COL1A2, COL1A1
4osteogenesis imperfecta type iii30.5COL1A2, COL1A1
5osteogenesis imperfecta, type ii30.2COL1A2, COL1A1
6dentinogenesis imperfecta29.9COL1A1, COL1A2
7osteoporosis29.6COL1A1, COL1A2
8osteogenesis imperfecta type 510.6
9osteogenesis imperfecta type 810.5
10osteogenesis imperfecta type xiii10.4
11osteogenesis imperfecta, type xiv10.4
12postural orthostatic tachycardia syndrome10.4
13osteogenesis imperfecta type 710.3
14oi type ii10.3
15osteogenesis imperfecta, type xv10.3
16osteogenesis imperfecta type 610.2
17osteogenesis imperfecta type xi10.2
18chronic orthostatic intolerance10.2
19osteogenesis imperfecta type 2a10.1
20osteogenesis imperfecta type 2b10.1
21osteogenesis imperfecta type 910.1
22osteogenesis imperfecta type x10.1
23osteogenesis imperfecta type xii10.1
24orthostatic intolerance10.1
25cole carpenter syndrome10.1
26ehlers–danlos syndrome classical type10.0COL1A1, COL1A2
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 syndrome9.9COL1A2, COL1A1
34connective tissue disease9.9COL1A2, COL1A1
35pulmonary fibrosis9.9COL1A2, COL1A1
36osteoarthritis9.9COL1A2, COL1A1
37systemic scleroderma9.8COL1A1, COL1A2

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 UMLS62/NDF-RT40:

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:

32
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:

36
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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Expression for genes affiliated with Col1a1/2-Related Osteogenesis Imperfecta

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Expression patterns in normal tissues for genes affiliated with Col1a1/2-Related Osteogenesis Imperfecta

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/GeneDecks:

(show all 19)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Cytoskeleton remodeling FAK signaling60
Development Endothelin 1 EDNRA transactivation of EGFR60
9.1COL1A2, COL1A1
2
Show member pathways
Development EDNRB signaling60
Development ACM2 and ACM4 activation of ERK60
Cell adhesion Integrin inside out signaling60
Development G Proteins mediated regulation MARK ERK signaling60
Signal transduction IP3 signaling60
Development Angiotensin signaling via PYK260
Development EPO induced MAPK pathway60
9.1COL1A1, COL1A2
3
Show member pathways
Cytoskeleton remodeling Fibronectin binding integrins in cell motility60
Cytoskeleton remodeling Integrin outside in signaling60
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases60
Cell adhesion Tight junctions60
Development MAG dependent inhibition of neurite outgrowth60
9.1COL1A2, COL1A1
4
Show member pathways
9.1COL1A1, COL1A2
5
Show member pathways
Integrin-mediated cell adhesion37
Focal Adhesion37
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
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/GeneDecks:

(show all 15)
idCompoundScoreTop Affiliating Genes
1nppa449.4COL1A2, COL1A1
2carbodiimide449.4COL1A2, COL1A1
3nppb28 44 6111.4COL1A2, COL1A1
4xbai449.4COL1A1, COL1A2
5ecori449.4COL1A2, COL1A1
6rsai449.4COL1A2, COL1A1
7mspi449.3COL1A2, COL1A1
8procollagen449.3COL1A1, COL1A2
9simvastatin44 50 61 28 24 1114.3COL1A2, COL1A1
10chloramphenicol44 2 50 1112.2COL1A2, COL1A1
11ribonucleic acid449.2COL1A2, COL1A1
12vitamin d449.1COL1A1, COL1A2
13oligonucleotide449.1COL1A2, COL1A1
14thymidine44 2410.0COL1A2, COL1A1
15aspartate448.8COL1A2, 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/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulum lumenGO:0057889.1COL1A2, COL1A1
2collagen type IGO:0055849.0COL1A2, COL1A1
3extracellular matrixGO:0310128.8COL1A2, COL1A1

Biological processes related to Col1a1/2-Related Osteogenesis Imperfecta according to GeneCards/GeneDecks:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1skin morphogenesisGO:0435899.4COL1A2, COL1A1
2protein heterotrimerizationGO:0702089.4COL1A2, COL1A1
3collagen fibril organizationGO:0301999.4COL1A1, COL1A2
4blood vessel developmentGO:0015689.3COL1A1, COL1A2
5cellular response to amino acid stimulusGO:0712309.3COL1A2, COL1A1
6collagen catabolic processGO:0305749.3COL1A2, COL1A1
7extracellular matrix disassemblyGO:0226179.2COL1A1, COL1A2
8leukocyte migrationGO:0509009.2COL1A2, COL1A1
9skeletal system developmentGO:0015019.1COL1A2, COL1A1
10blood coagulationGO:0075969.1COL1A2, COL1A1
11platelet activationGO:0301689.0COL1A1, COL1A2
12extracellular matrix organizationGO:0301988.8COL1A2, COL1A1

Molecular functions related to Col1a1/2-Related Osteogenesis Imperfecta according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1identical protein bindingGO:0428029.1COL1A2, COL1A1
2platelet-derived growth factor bindingGO:0484079.0COL1A2, COL1A1
3extracellular matrix structural constituentGO:0052018.8COL1A2, COL1A1

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

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  • Antibodies
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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
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet