MCID: CL1004
MIFTS: 26

Col1a1/2-Related Osteogenesis Imperfecta malady

Genetic diseases (common), Bone diseases categories

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 21 22
Brittle Bone Disease 21 22
Oi 21 22
 
Osteogenesis Imperfecta 65
Col1a1/2-Related Oi 22


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, type iv and osteogenesis imperfecta, type iii. An important gene associated with Col1a1/2-Related Osteogenesis Imperfecta is COL1A1 (Collagen, Type I, Alpha 1), and among its related pathways are PI3K-Akt signaling pathway and Binding and Uptake of Ligands by Scavenger Receptors. The drugs calcitonin and salmon calcitonin have been mentioned in the context of this disorder. Affiliated tissues include bone.

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 top 50)    (show all 110)
idRelated DiseaseScoreTop Affiliating Genes
1osteogenesis imperfecta, type iv30.7COL1A1, COL1A2
2osteogenesis imperfecta, type iii30.5COL1A1, COL1A2
3osteogenesis imperfecta, type ii30.4COL1A1, COL1A2
4osteoporosis29.6COL1A1, COL1A2
5osteogenesis imperfecta, type v10.6
6osteogenesis imperfecta, type viii10.5
7osteogenesis imperfecta, type xiii10.4
8osteogenesis imperfecta, type xiv10.4
9osteogenesis imperfecta, type xv10.4
10osteogenesis imperfecta10.4
11osteogenesis imperfecta, type vii10.4
12osteogenesis imperfecta, type i10.4
13osteogenesis imperfecta, type xi10.3
14postural orthostatic tachycardia syndrome10.3
15osteogenesis imperfecta, type x10.2
16osteogenesis imperfecta, type xii10.2
17osteogenesis imperfecta, type ix10.2
18orthostatic intolerance10.2
19perinatally lethal osteogenesis imperfecta10.2
20mucopolysaccharidosis iva10.2
21mucopolysaccharidosis iv10.2
22secondary syphilis10.2
23bone development disease10.2
24collagen disease10.2
25connective tissue disease10.2
26osteochondrodysplasia10.2
27osteogenesis imperfecta congenita microcephaly and cataracts10.2
28skeletal dysplasias10.2
29skeletal dysplasia10.2
30chronic orthostatic intolerance10.2
31osteogenesis imperfecta, type vi10.1
32osteogenesis imperfecta type 2a10.1
33osteogenesis imperfecta type 2b10.1
34classic non-deforming osteogenesis imperfecta with blue sclerae10.1
35common variable osteogenesis imperfecta with normal sclerae10.1
36progressively deforming osteogenesis imperfecta10.1
37drug rash with eosinophilia and systemic symptoms10.1
38osteolysis syndrome recessive10.0COL1A1, COL1A2
39classic rett syndrome10.0COL1A1, COL1A2
40congenital trigeminal anesthesia10.0COL1A1, COL1A2
41idiopathic linear interstitial keratitis10.0COL1A1, COL1A2
42pervasive developmental disorder not otherwise specified10.0COL1A1, COL1A2
43col4a1-related disorders10.0COL1A1, COL1A2
44eif4g1-related parkinson disease10.0COL1A1, COL1A2
45larsen-like syndrome10.0COL1A1, COL1A2
46ehlers-danlos syndrome, type viib10.0COL1A1, COL1A2
47autosomal dominant microcephaly9.9COL1A1, COL1A2
48caffey disease9.9COL1A1, COL1A2
49thrombocytopenic purpura, autoimmune9.9
50anemia, sideroblastic, pyridoxine-refractory, autosomal recessive9.9

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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Interventional clinical trials:

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

Inferred drug relations via UMLS65/NDF-RT43:

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 Imperfecta22 COL1A1, COL1A2

Anatomical Context for Col1a1/2-Related Osteogenesis Imperfecta

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

33
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)single nucleotide variantPathogenicrs72645357GRCh37Chr 17, 48273524: 48273524
2COL1A1NM_000088.3(COL1A1): c.787G> A (p.Gly263Arg)single nucleotide variantPathogenicrs72645323GRCh37Chr 17, 48274388: 48274388
3COL1A1NM_000088.3(COL1A1): c.1200+1G> Asingle nucleotide variantPathogenicrs72648320GRCh37Chr 17, 48272794: 48272794
4COL1A1NM_000088.3(COL1A1): c.3076C> T (p.Arg1026Ter)single nucleotide variantPathogenicrs72653173GRCh37Chr 17, 48266126: 48266126
5COL1A2NM_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 16)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1COL1A1, COL1A2
2
Show member pathways
9.1COL1A1, COL1A2
39.1COL1A1, 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
89.1COL1A1, 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

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:00055849.7COL1A1, COL1A2
2extracellular matrixGO:00310129.1COL1A1, COL1A2
3collagen trimerGO:00055819.0COL1A1, COL1A2
4endoplasmic reticulum lumenGO:00057888.8COL1A1, COL1A2

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1skin morphogenesisGO:00435899.8COL1A1, COL1A2
2protein heterotrimerizationGO:00702089.6COL1A1, COL1A2
3leukocyte migrationGO:00509009.6COL1A1, COL1A2
4skeletal system developmentGO:00015019.5COL1A1, COL1A2
5blood vessel developmentGO:00015689.5COL1A1, COL1A2
6collagen fibril organizationGO:00301999.5COL1A1, COL1A2
7regulation of immune responseGO:00507769.5COL1A1, COL1A2
8receptor-mediated endocytosisGO:00068989.5COL1A1, COL1A2
9extracellular matrix disassemblyGO:00226179.5COL1A1, COL1A2
10collagen catabolic processGO:00305749.4COL1A1, COL1A2
11cellular response to amino acid stimulusGO:00712309.4COL1A1, COL1A2
12extracellular matrix organizationGO:00301989.1COL1A1, COL1A2
13blood coagulationGO:00075969.0COL1A1, COL1A2
14platelet activationGO:00301688.8COL1A1, 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:00052018.8COL1A1, COL1A2

Sources for Col1a1/2-Related Osteogenesis Imperfecta

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet