MCID: CL1004
MIFTS: 26

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 23 24
Brittle Bone Disease 23 24
Oi 23 24
 
Osteogenesis Imperfecta 67
Col1a1/2-Related Oi 24

Characteristics:

GeneReviews:

23
Penetrance: the penetrance in individuals heterozygous for a col1a1 or col1a2 mutation is 100%, although expression may vary considerably, even in the same family. ...


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 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 UMLS67/NDF-RT45:

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 Imperfecta24 COL1A1, COL1A2

Anatomical Context for Col1a1/2-Related Osteogenesis Imperfecta

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

35
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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Clinvar genetic disease variations for Col1a1/2-Related Osteogenesis Imperfecta:

5
id Gene Variation Type Significance SNP ID Assembly Location
1COL1A1NM_000088.3(COL1A1): c.994G> A (p.Gly332Arg)SNVPathogenicrs72645357GRCh37Chr 17, 48273524: 48273524
2COL1A1NM_000088.3(COL1A1): c.787G> A (p.Gly263Arg)SNVPathogenicrs72645323GRCh37Chr 17, 48274388: 48274388
3COL1A1NM_000088.3(COL1A1): c.1200+1G> ASNVPathogenicrs72648320GRCh37Chr 17, 48272794: 48272794
4COL1A1NM_000088.3(COL1A1): c.2161C> T (p.Gln721Ter)SNVLikely pathogenic, Pathogenicrs193922145GRCh37Chr 17, 48268818: 48268818
5COL1A1NM_000088.3(COL1A1): c.3076C> T (p.Arg1026Ter)SNVPathogenicrs72653173GRCh37Chr 17, 48266126: 48266126
6COL1A2NM_000089.3(COL1A2): c.838G> A (p.Gly280Ser)SNVPathogenicrs72656387GRCh37Chr 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 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:00055819.5COL1A1, COL1A2
3extracellular matrixGO:00310129.1COL1A1, COL1A2
4endoplasmic reticulum lumenGO:00057888.8COL1A1, 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:00435899.7COL1A1, COL1A2
2protein heterotrimerizationGO:00702089.6COL1A1, COL1A2
3regulation of immune responseGO:00507769.5COL1A1, COL1A2
4collagen catabolic processGO:00305749.5COL1A1, COL1A2
5blood vessel developmentGO:00015689.5COL1A1, COL1A2
6platelet activationGO:00301689.4COL1A1, COL1A2
7skeletal system developmentGO:00015019.4COL1A1, COL1A2
8leukocyte migrationGO:00509009.2COL1A1, COL1A2
9collagen fibril organizationGO:00301999.2COL1A1, COL1A2
10blood coagulationGO:00075969.1COL1A1, COL1A2
11cellular response to amino acid stimulusGO:00712309.1COL1A1, COL1A2
12extracellular matrix organizationGO:00301988.8COL1A1, COL1A2

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

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituentGO:00052019.1COL1A1, COL1A2
2platelet-derived growth factor bindingGO:00484078.8COL1A1, COL1A2

Sources for Col1a1/2-Related Osteogenesis Imperfecta

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet