OI
MCID: CL1004
MIFTS: 25

Col1a1/2-Related Osteogenesis Imperfecta (OI) malady

Categories: Genetic diseases (common), Bone diseases

Aliases & Classifications for Col1a1/2-Related Osteogenesis Imperfecta

About this section

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 68
Col1a1/2-Related Oi 24

Characteristics:

GeneReviews:

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


Classifications:



Summaries for Col1a1/2-Related Osteogenesis Imperfecta

About this section
MalaCards based summary: Col1a1/2-Related Osteogenesis Imperfecta, also known as brittle bone disease, is related to osteogenesis imperfecta and cngb3-related stargardt disease 1, 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

About this section

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

(show all 33)
idRelated DiseaseScoreTop Affiliating Genes
1osteogenesis imperfecta10.1
2cngb3-related stargardt disease 110.0COL1A1, COL1A2
3isolated lissencephaly type 1 without known genetic defects10.0COL1A1, COL1A2
4charcot-marie-tooth neuropathy type 2a10.0COL1A1, COL1A2
5prph2-related retinitis pigmentosa10.0COL1A1, COL1A2
620p13 microdeletion syndrome10.0COL1A1, COL1A2
7phyh-related refsum disease10.0COL1A1, COL1A2
8epileptic encephalopathy, early infantile, 3610.0COL1A1, COL1A2
9porphyria cutanea tarda10.0COL1A1, COL1A2
10factor xiiia deficiency10.0COL1A1, COL1A2
11human herpesvirus 810.0COL1A1, COL1A2
12osteogenesis imperfecta, type iii10.0COL1A1, COL1A2
13cerebellar ataxia, mental retardation, and dysequilibrium syndrome 210.0COL1A1, COL1A2
14autism susceptibility 1610.0COL1A1, COL1A2
15long qt syndrome 110.0COL1A1, COL1A2
16muscle hypertrophy10.0COL1A1, COL1A2
17diabetic neuropathy10.0COL1A1, COL1A2
18ceroid lipofuscinosis, neuronal, 1110.0COL1A1, COL1A2
19agraphia10.0COL1A1, COL1A2
20neuropathy, distal hereditary motor, type iia9.9COL1A1, COL1A2
21xanthinuria9.9COL1A1, COL1A2
22deafness, autosomal recessive 619.9COL1A1, COL1A2
23splenic flexure cancer9.9COL1A1, COL1A2
24mental retardation, autosomal recessive 359.9COL1A1, COL1A2
25osteogenesis imperfecta, type ii9.9COL1A1, COL1A2
26ehlers-danlos syndrome, cardiac valvular form9.9COL1A1, COL1A2
27bone structure disease9.9COL1A1, COL1A2
28herpes simplex9.9COL1A1, COL1A2
29sclerocornea9.9COL1A1, COL1A2
30tinea manuum9.8COL1A1, COL1A2
31carnitine deficiency, systemic primary9.8COL1A1, COL1A2
32prostatocystitis9.8COL1A1, COL1A2
33clivus meningioma9.7COL1A1, COL1A2

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



Diseases related to col1a1/2-related osteogenesis imperfecta

Symptoms & Phenotypes for Col1a1/2-Related Osteogenesis Imperfecta

About this section

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


back pain, muscle cramp, sciatica

Drugs & Therapeutics for Col1a1/2-Related Osteogenesis Imperfecta

About this section

Interventional clinical trials:

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

Inferred drug relations via UMLS68/NDF-RT46:

Genetic Tests for Col1a1/2-Related Osteogenesis Imperfecta

About this section

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

About this section

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

36
Bone

Publications for Col1a1/2-Related Osteogenesis Imperfecta

About this section

Articles related to Col1a1/2-Related Osteogenesis Imperfecta:

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

Variations for Col1a1/2-Related Osteogenesis Imperfecta

About this section

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

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

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

About this section

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

(show all 17)
idSuper pathwaysScoreTop 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
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

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

About this section

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

idNameGO IDScoreTop Affiliating Genes
1collagen trimerGO:00055819.8COL1A1, COL1A2
2collagen type I trimerGO:00055849.8COL1A1, COL1A2
3endoplasmic reticulum lumenGO:00057889.8COL1A1, COL1A2
4extracellular matrixGO:00310129.8COL1A1, COL1A2
5proteinaceous extracellular matrixGO:00055789.1COL1A1, COL1A2

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1blood coagulationGO:00075969.8COL1A1, COL1A2
2blood vessel developmentGO:00015689.8COL1A1, COL1A2
3cellular response to amino acid stimulusGO:00712309.8COL1A1, COL1A2
4collagen catabolic processGO:00305749.8COL1A1, COL1A2
5collagen fibril organizationGO:00301999.8COL1A1, COL1A2
6extracellular matrix organizationGO:00301989.8COL1A1, COL1A2
7leukocyte migrationGO:00509009.8COL1A1, COL1A2
8platelet activationGO:00301689.8COL1A1, COL1A2
9protein heterotrimerizationGO:00702089.8COL1A1, COL1A2
10regulation of immune responseGO:00507769.7COL1A1, COL1A2
11skeletal system developmentGO:00015019.4COL1A1, COL1A2
12skin morphogenesisGO:00435899.1COL1A1, COL1A2

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

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituentGO:00052019.7COL1A1, COL1A2
2platelet-derived growth factor bindingGO:00484079.6COL1A1, COL1A2
3protease bindingGO:00020209.1COL1A1, COL1A2

Sources for Col1a1/2-Related Osteogenesis Imperfecta

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet