OI
MCID: CL1004
MIFTS: 25

Col1a1/2-Related Osteogenesis Imperfecta (OI) malady

Categories: Genetic diseases, Bone diseases

Aliases & Classifications for Col1a1/2-Related Osteogenesis Imperfecta

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 69
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

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/superpathways are Collagen chain trimerization and Development Endothelin-1/EDNRA signaling. Affiliated tissues include bone.

GeneReviews: NBK1295

Related Diseases for Col1a1/2-Related Osteogenesis Imperfecta

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

(show all 33)
id Related Disease Score Top Affiliating Genes
1 osteogenesis imperfecta 10.1
2 cngb3-related stargardt disease 1 10.0 COL1A1 COL1A2
3 isolated lissencephaly type 1 without known genetic defects 10.0 COL1A1 COL1A2
4 charcot-marie-tooth neuropathy type 2a 10.0 COL1A1 COL1A2
5 prph2-related retinitis pigmentosa 10.0 COL1A1 COL1A2
6 20p13 microdeletion syndrome 10.0 COL1A1 COL1A2
7 phyh-related refsum disease 10.0 COL1A1 COL1A2
8 epileptic encephalopathy, early infantile, 36 10.0 COL1A1 COL1A2
9 porphyria cutanea tarda 10.0 COL1A1 COL1A2
10 factor xiiia deficiency 10.0 COL1A1 COL1A2
11 human herpesvirus 8 10.0 COL1A1 COL1A2
12 osteogenesis imperfecta, type iii 10.0 COL1A1 COL1A2
13 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 10.0 COL1A1 COL1A2
14 autism susceptibility 16 10.0 COL1A1 COL1A2
15 long qt syndrome 1 10.0 COL1A1 COL1A2
16 muscle hypertrophy 10.0 COL1A1 COL1A2
17 diabetic neuropathy 10.0 COL1A1 COL1A2
18 ceroid lipofuscinosis, neuronal, 11 10.0 COL1A1 COL1A2
19 agraphia 10.0 COL1A1 COL1A2
20 neuropathy, distal hereditary motor, type iia 9.9 COL1A1 COL1A2
21 xanthinuria 9.9 COL1A1 COL1A2
22 deafness, autosomal recessive 61 9.9 COL1A1 COL1A2
23 splenic flexure cancer 9.9 COL1A1 COL1A2
24 mental retardation, autosomal recessive 35 9.9 COL1A1 COL1A2
25 osteogenesis imperfecta, type ii 9.9 COL1A1 COL1A2
26 ehlers-danlos syndrome, cardiac valvular form 9.9 COL1A1 COL1A2
27 bone structure disease 9.9 COL1A1 COL1A2
28 herpes simplex 9.9 COL1A1 COL1A2
29 sclerocornea 9.9 COL1A1 COL1A2
30 tinea manuum 9.8 COL1A1 COL1A2
31 carnitine deficiency, systemic primary 9.8 COL1A1 COL1A2
32 prostatocystitis 9.8 COL1A1 COL1A2
33 clivus meningioma 9.7 COL1A1 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

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


back pain, muscle cramp, sciatica

Drugs & Therapeutics for Col1a1/2-Related Osteogenesis Imperfecta

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

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Genetic Tests for Col1a1/2-Related Osteogenesis Imperfecta

Genetic tests related to Col1a1/2-Related Osteogenesis Imperfecta:

id Genetic test Affiliating Genes
1 Col1a1/2-Related Osteogenesis Imperfecta 24 COL1A1 COL1A2

Anatomical Context for Col1a1/2-Related Osteogenesis Imperfecta

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

39
Bone

Publications for Col1a1/2-Related Osteogenesis Imperfecta

Articles related to Col1a1/2-Related Osteogenesis Imperfecta:

id Title Authors Year
1
COL1A1/2-Related Osteogenesis Imperfecta ( 20301472 )
1993

Variations for Col1a1/2-Related Osteogenesis Imperfecta

Expression for Col1a1/2-Related Osteogenesis Imperfecta

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

Pathways for Col1a1/2-Related Osteogenesis Imperfecta

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

(show all 17)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.29 COL1A1 COL1A2
2
Show member pathways
12.24 COL1A1 COL1A2
3
Show member pathways
12.2 COL1A1 COL1A2
4
Show member pathways
12.09 COL1A1 COL1A2
5 12.06 COL1A1 COL1A2
6
Show member pathways
11.69 COL1A1 COL1A2
7 11.58 COL1A1 COL1A2
8
Show member pathways
11.49 COL1A1 COL1A2
9 11.45 COL1A1 COL1A2
10 11.42 COL1A1 COL1A2
11 11.2 COL1A1 COL1A2
12 11.15 COL1A1 COL1A2
13 11.03 COL1A1 COL1A2
14 10.86 COL1A1 COL1A2
15 10.75 COL1A1 COL1A2
16 10.47 COL1A1 COL1A2
17 9.98 COL1A1 COL1A2

GO Terms for Col1a1/2-Related Osteogenesis Imperfecta

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

id Name GO ID Score Top Affiliating Genes
1 proteinaceous extracellular matrix GO:0005578 9.32 COL1A1 COL1A2
2 extracellular matrix GO:0031012 9.26 COL1A1 COL1A2
3 endoplasmic reticulum lumen GO:0005788 9.16 COL1A1 COL1A2
4 collagen trimer GO:0005581 8.96 COL1A1 COL1A2
5 collagen type I trimer GO:0005584 8.62 COL1A1 COL1A2

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

(show all 12)
id Name GO ID Score Top Affiliating Genes
1 leukocyte migration GO:0050900 9.51 COL1A1 COL1A2
2 extracellular matrix organization GO:0030198 9.49 COL1A1 COL1A2
3 regulation of immune response GO:0050776 9.48 COL1A1 COL1A2
4 blood coagulation GO:0007596 9.46 COL1A1 COL1A2
5 skeletal system development GO:0001501 9.43 COL1A1 COL1A2
6 platelet activation GO:0030168 9.4 COL1A1 COL1A2
7 collagen catabolic process GO:0030574 9.37 COL1A1 COL1A2
8 cellular response to amino acid stimulus GO:0071230 9.32 COL1A1 COL1A2
9 blood vessel development GO:0001568 9.26 COL1A1 COL1A2
10 collagen fibril organization GO:0030199 9.16 COL1A1 COL1A2
11 protein heterotrimerization GO:0070208 8.96 COL1A1 COL1A2
12 skin morphogenesis GO:0043589 8.62 COL1A1 COL1A2

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

id Name GO ID Score Top Affiliating Genes
1 protease binding GO:0002020 9.16 COL1A1 COL1A2
2 extracellular matrix structural constituent GO:0005201 8.96 COL1A1 COL1A2
3 platelet-derived growth factor binding GO:0048407 8.62 COL1A1 COL1A2

Sources for Col1a1/2-Related Osteogenesis Imperfecta

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....