MCID: CL1004
MIFTS: 27

Col1a1/2-Related Osteogenesis Imperfecta malady

Categories: Genetic diseases (common), Bone diseases

Aliases & Classifications for Col1a1/2-Related Osteogenesis Imperfecta

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

Name: Col1a1/2-Related Osteogenesis Imperfecta 22 23
Brittle Bone Disease 22 23
Oi 22 23
 
Osteogenesis Imperfecta 66
Col1a1/2-Related Oi 23

Classifications:



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 and infundibulo-neurohypophysitis, and has symptoms including back pain, muscle cramp and sciatica. An important gene associated with Col1a1/2-Related Osteogenesis Imperfecta is COL1A1 (Collagen Type I Alpha 1 Chain), and among its related pathways are PI3K-Akt signaling pathway and ECM-receptor interaction. The drugs calcitonin and salmon calcitonin have been mentioned in the context of this disorder. Affiliated tissues include bone.

GeneReviews summary for NBK1295

Related Diseases for Col1a1/2-Related Osteogenesis Imperfecta

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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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UMLS symptoms related to Col1a1/2-Related Osteogenesis Imperfecta:


back pain, muscle cramp, sciatica

Drugs & Therapeutics for Col1a1/2-Related Osteogenesis Imperfecta

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Interventional clinical trials:

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

Inferred drug relations via UMLS66/NDF-RT44:

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 Imperfecta23 COL1A1, COL1A2

Anatomical Context for Col1a1/2-Related Osteogenesis Imperfecta

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

34
Bone

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

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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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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 pathwaysScoreTop Affiliating Genes
19.1COL1A1, COL1A2
2
Show member pathways
9.1COL1A1, COL1A2
3
Show member pathways
9.1COL1A1, COL1A2
4
Show member pathways
9.1COL1A1, COL1A2
5
Show member pathways
9.1COL1A1, COL1A2
6
Show member pathways
9.1COL1A1, COL1A2
7
Show member pathways
9.1COL1A1, COL1A2
8
Show member pathways
9.1COL1A1, COL1A2
99.1COL1A1, COL1A2
109.1COL1A1, COL1A2
119.1COL1A1, COL1A2
129.1COL1A1, COL1A2
139.1COL1A1, COL1A2
149.1COL1A1, COL1A2
159.1COL1A1, COL1A2
169.1COL1A1, COL1A2
179.1COL1A1, COL1A2
189.1COL1A1, COL1A2
199.1COL1A1, COL1A2

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
1collagen type I trimerGO:00055849.6COL1A1, COL1A2
2collagen trimerGO:00055819.4COL1A1, COL1A2
3endoplasmic reticulum lumenGO:00057889.1COL1A1, COL1A2
4extracellular matrixGO:00310129.0COL1A1, COL1A2

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1skin morphogenesisGO:00435899.6COL1A1, COL1A2
2protein heterotrimerizationGO:00702089.6COL1A1, COL1A2
3collagen catabolic processGO:00305749.5COL1A1, COL1A2
4regulation of immune responseGO:00507769.5COL1A1, COL1A2
5platelet activationGO:00301689.4COL1A1, COL1A2
6blood vessel developmentGO:00015689.4COL1A1, COL1A2
7collagen fibril organizationGO:00301999.3COL1A1, COL1A2
8skeletal system developmentGO:00015019.3COL1A1, COL1A2
9extracellular matrix organizationGO:00301989.3COL1A1, COL1A2
10cellular response to amino acid stimulusGO:00712309.2COL1A1, COL1A2
11blood coagulationGO:00075969.1COL1A1, COL1A2
12leukocyte migrationGO:00509008.8COL1A1, COL1A2

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

idNameGO IDScoreTop Affiliating Genes
1platelet-derived growth factor bindingGO:00484079.1COL1A1, COL1A2
2extracellular matrix structural constituentGO:00052019.1COL1A1, COL1A2

Sources for Col1a1/2-Related Osteogenesis Imperfecta

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet