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OI
MCID: CL1007
MIFTS: 26

Col1a1/2 Osteogenesis Imperfecta (OI)

Categories: Bone diseases
Genes Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Col1a1/2 Osteogenesis Imperfecta

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MalaCards integrated aliases for Col1a1/2 Osteogenesis Imperfecta:

Name: Col1a1/2 Osteogenesis Imperfecta 25
Brittle Bone Disease 25
Oi 25

Characteristics:

GeneReviews:

25
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:

MalaCards categories:
Anatomical: Bone diseases
See all MalaCards categories (disease lists)


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Summaries for Col1a1/2 Osteogenesis Imperfecta

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MalaCards based summary : Col1a1/2 Osteogenesis Imperfecta, also known as brittle bone disease, is related to dentinogenesis imperfecta and brittle bone disorder. An important gene associated with Col1a1/2 Osteogenesis Imperfecta is COL1A1 (Collagen Type I Alpha 1 Chain), and among its related pathways/superpathways are Collagen chain trimerization and Development Angiotensin activation of ERK. The drugs Pamidronate and Zoledronic Acid have been mentioned in the context of this disorder. Affiliated tissues include bone and bone marrow.

GeneReviews: NBK1295
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Related Diseases for Col1a1/2 Osteogenesis Imperfecta

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

(show top 50) (show all 64)
# Related Disease Score Top Affiliating Genes
1 dentinogenesis imperfecta 30.0 COL1A2 COL1A1
2 brittle bone disorder 29.8 COL1A2 COL1A1
3 osteogenesis imperfecta, type v 29.7 COL1A2 COL1A1
4 osteogenesis imperfecta, type vii 29.7 COL1A2 COL1A1
5 osteogenesis imperfecta, type iv 29.7 COL1A2 COL1A1
6 osteogenesis imperfecta, type iii 29.6 COL1A2 COL1A1
7 scoliosis 29.6 COL1A2 COL1A1
8 bone resorption disease 29.6 COL1A2 COL1A1
9 cole-carpenter syndrome 11.0
10 bone disease 10.7
11 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
12 sensorineural hearing loss 10.2
13 rickets 10.1
14 coxa vara 10.0
15 osteoporosis 10.0
16 osteogenic sarcoma 10.0
17 bone mineral density quantitative trait locus 8 10.0
18 bone mineral density quantitative trait locus 15 10.0
19 osteogenesis imperfecta, type vi 10.0
20 helix syndrome 10.0
21 autosomal recessive disease 10.0
22 inguinal hernia 10.0
23 neutropenia 10.0
24 hypermobility syndrome 10.0
25 tenosynovitis 10.0
26 dwarfism 10.0
27 posttransplant acute limbic encephalitis 10.0
28 ehlers-danlos/osteogenesis imperfecta syndrome 9.9 COL1A2 COL1A1
29 high bone mass osteogenesis imperfecta 9.9 COL1A2 COL1A1
30 larsen-like syndrome 9.9 COL1A2 COL1A1
31 arthrochalasia ehlers-danlos syndrome 9.9 COL1A2 COL1A1
32 ehlers-danlos syndrome 9.9 COL1A2 COL1A1
33 fibrogenesis imperfecta ossium 9.9 COL1A2 COL1A1
34 ehlers-danlos syndrome, arthrochalasia type, 2 9.9 COL1A2 COL1A1
35 scleroderma, familial progressive 9.9 COL1A2 COL1A1
36 syndromic x-linked intellectual disability cabezas type 9.9 COL1A2 COL1A1
37 diffuse scleroderma 9.9 COL1A2 COL1A1
38 ehlers-danlos syndrome, cardiac valvular type 9.9 COL1A2 COL1A1
39 classic ehlers-danlos syndrome 9.9 COL1A2 COL1A1
40 x-linked alport syndrome 9.8 COL1A2 COL1A1
41 alport syndrome 9.8 COL1A2 COL1A1
42 osteogenesis imperfecta, type i 9.8 COL1A2 COL1A1
43 osteogenesis imperfecta, type ix 9.8 COL1A2 COL1A1
44 bruck syndrome 9.8 COL1A2 COL1A1
45 ehlers-danlos syndrome, classic type, 1 9.8 COL1A2 COL1A1
46 caffey disease 9.8 COL1A2 COL1A1
47 osteoporosis, juvenile 9.8 COL1A2 COL1A1
48 spinal stenosis 9.8 COL1A2 COL1A1
49 oral submucous fibrosis 9.8 COL1A2 COL1A1
50 collagen disease 9.8 COL1A2 COL1A1

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



Diseases related to Col1a1/2 Osteogenesis Imperfecta
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Symptoms & Phenotypes for Col1a1/2 Osteogenesis Imperfecta

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Drugs & Therapeutics for Col1a1/2 Osteogenesis Imperfecta

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Drugs for Col1a1/2 Osteogenesis Imperfecta (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pamidronate Approved Phase 2 40391-99-9 4674
2
Zoledronic Acid Approved Phase 2 118072-93-8 68740
3 Diphosphonates Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Bisphosphonate Treatment of Osteogenesis Imperfecta Completed NCT00063479 Phase 2 Zoledronic Acid
2 Preventive Fixation of Lower Limbs in Osteogenesis Imperfecta (Brittle Bone Disease) With the Highlight of the Fassier-Duval Unknown status NCT02868294
3 Rare Diseases Clinical Research Network Brittle Bone Disease Consortium Longitudinal Study of Osteogenesis Imperfecta Recruiting NCT02432625

Search NIH Clinical Center for Col1a1/2 Osteogenesis Imperfecta

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Genetic Tests for Col1a1/2 Osteogenesis Imperfecta

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Anatomical Context for Col1a1/2 Osteogenesis Imperfecta

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

40
Bone, Bone Marrow
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Publications for Col1a1/2 Osteogenesis Imperfecta

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Articles related to Col1a1/2 Osteogenesis Imperfecta:

(show top 50) (show all 190)
# Title Authors PMID Year
1
Non-accidental injury: confusion with temporary brittle bone disease and mild osteogenesis imperfecta. 61 25
9028840 1997
2
Osteogenesis imperfecta. 61 25
1580589 1992
3
Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta. 25
31564437 2019
4
Mendelian bone fragility disorders. 25
31039433 2019
5
Genotype-phenotype correlation study in 364 osteogenesis imperfecta Italian patients. 25
30886339 2019
6
A novel mutation in COL1A2 leads to osteogenesis imperfecta/Ehlers-Danlos overlap syndrome with brachydactyly. 25
31193991 2019
7
A Multicenter Observational Cohort Study to Evaluate the Effects of Bisphosphonate Exposure on Bone Mineral Density and Other Health Outcomes in Osteogenesis Imperfecta. 25
31131341 2019
8
Aortic aneurysm/dissection and osteogenesis imperfecta: Four new families and review of the literature. 25
30684648 2019
9
The Forteo Patient Registry linkage to multiple state cancer registries: study design and results from the first 8 years. 25
29978254 2018
10
ZOLEDRONIC ACID VERSUS ALENDRONATE IN THE TREATMENT OF CHILDREN WITH OSTEOGENESIS IMPERFECTA: A 2-YEAR CLINICAL STUDY. 25
29466057 2018
11
Denosumab: an Emerging Therapy in Pediatric Bone Disorders. 25
28643220 2017
12
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. 25
28349240 2017
13
Asymptomatic parental mosaicism for osteogenesis imperfecta associated with a new splice site mutation in COL1A2. 25
27761249 2016
14
Safety and efficacy of denosumab in children with osteogenesis imperfect--a first prospective trial. 25
26944820 2016
15
Nosology and classification of genetic skeletal disorders: 2015 revision. 25
26394607 2015
16
Heart disease in patients with osteogenesis imperfecta - A systematic review. 25
26100571 2015
17
Two years' experience with denosumab for children with osteogenesis imperfecta type VI. 25
25257953 2014
18
Bisphosphonate therapy for osteogenesis imperfecta. 25
25054949 2014
19
Evaluation of teriparatide treatment in adults with osteogenesis imperfecta. 25
24463451 2014
20
Transplanted bone marrow mononuclear cells and MSCs impart clinical benefit to children with osteogenesis imperfecta through different mechanisms. 25
22829629 2012
21
EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta. 25
21829228 2012
22
Alendronate for the treatment of pediatric osteogenesis imperfecta: a randomized placebo-controlled study. 25
21106710 2011
23
Recurrence of perinatal lethal osteogenesis imperfecta in sibships: parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance. 25
21239989 2011
24
Genotype-phenotype correlations in autosomal dominant osteogenesis imperfecta. 25
21912751 2011
25
Complete COL1A1 allele deletions in osteogenesis imperfecta. 25
21113976 2010
26
GH in combination with bisphosphonate treatment in osteogenesis imperfecta. 25
20592128 2010
27
A randomized, controlled dose-ranging study of risedronate in children with moderate and severe osteogenesis imperfecta. 25
19580461 2010
28
Osteogenesis imperfecta: recent findings shed new light on this once well-understood condition. 25
19533842 2009
29
Osteogenesis imperfecta type III with intracranial hemorrhage and brachydactyly associated with mutations in exon 49 of COL1A2. 25
19208385 2009
30
Connective tissue and vascular phenotype in patients with cervical artery dissection. 25
17562832 2007
31
Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood. 25
17211858 2007
32
Stapes surgery in Japanese patients with osteogenesis imperfecta. 25
17245052 2007
33
Syndromes with congenital brittle bones. 25
15339338 2004
34
Stapes surgery in osteogenesis imperfecta in Finland. 25
15053199 2004
35
Stapes surgery in osteogenesis imperfecta: results of a new series. 25
14501445 2003
36
Positive linear growth and bone responses to growth hormone treatment in children with types III and IV osteogenesis imperfecta: high predictive value of the carboxyterminal propeptide of type I procollagen. 25
12568401 2003
37
Intravenous neridronate in adults with osteogenesis imperfecta. 25
12510813 2003
38
Pamidronate treatment of severe osteogenesis imperfecta in a newborn infant. 25
12638943 2002
39
Testing for osteogenesis imperfecta in cases of suspected non-accidental injury. 25
12070242 2002
40
Osteogenesis imperfecta: mode of delivery and neonatal outcome. 25
11152910 2001
41
Pamidronate treatment of severe osteogenesis imperfecta in children under 3 years of age. 25
10843163 2000
42
Bone mineral content and collagen defects in osteogenesis imperfecta. 25
10565454 1999
43
Osteogenesis imperfecta: bone turnover, bone density, and ultrasound parameters. 25
10430645 1999
44
Basilar impression complicating osteogenesis imperfecta type IV: the clinical and neuroradiological findings in four cases. 25
10084535 1999
45
Osteogenesis imperfecta. Rehabilitation and prospects for gene therapy. 25
9042848 1997
46
Spontaneous multivessel cervical artery dissection in a patient with a substitution of alanine for glycine (G13A) in the alpha 1 (I) chain of type I collagen. 25
8757037 1996
47
Studies of collagen synthesis and structure in the differentiation of child abuse from osteogenesis imperfecta. 25
8618190 1996
48
Gastrointestinal problems in patients who have type-III osteogenesis imperfecta. 25
7673285 1995
49
Perinatal lethal osteogenesis imperfecta. 25
7643358 1995
50
Bone density measurement in osteogenesis imperfecta may well be important. 25
8029175 1994
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Variations for Col1a1/2 Osteogenesis Imperfecta

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Expression for Col1a1/2 Osteogenesis Imperfecta

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

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

(show all 19)
# Super pathways Score Top Affiliating Genes
1
Collagen chain trimerization 65
Show member pathways
 12.32 COL1A2 COL1A1
2
Development Angiotensin activation of ERK 23
Show member pathways
 12.32 COL1A2 COL1A1
3
Degradation of the extracellular matrix 65
Show member pathways
 12.23 COL1A2 COL1A1
4
Relaxin signaling pathway 36
Show member pathways
 12.16 COL1A2 COL1A1
5
Development Endothelin-1/EDNRA signaling 23
Show member pathways
 12.13 COL1A2 COL1A1
6
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases 23
Show member pathways
 12.09 COL1A2 COL1A1
7
Proteoglycans in cancer 36
11.84 COL1A2 COL1A1
8
ECM-receptor interaction 36
Show member pathways
 11.7 COL1A2 COL1A1
9
Platelet activation 36
11.59 COL1A2 COL1A1
10
Binding and Uptake of Ligands by Scavenger Receptors 65
Show member pathways
 11.49 COL1A2 COL1A1
11
Amoebiasis 36
11.47 COL1A2 COL1A1
12
AGE-RAGE signaling pathway in diabetic complications 36
11.43 COL1A2 COL1A1
13
IL4-mediated signaling events 1
11.2 COL1A2 COL1A1
14
Cell adhesion_ECM remodeling 23
11.15 COL1A2 COL1A1
15
Platelet Aggregation Inhibitor Pathway, Pharmacodynamics 60
11.03 COL1A2 COL1A1
16
Cell adhesion_Endothelial cell contacts by non-junctional mechanisms 23
10.86 COL1A2 COL1A1
17
Development_Hedgehog and PTH signaling pathways in bone and cartilage development 23
10.75 COL1A2 COL1A1
18
Inflammatory Response Pathway 1
10.47 COL1A2 COL1A1
19
VEGFR3 signaling in lymphatic endothelium 1
9.98 COL1A2 COL1A1
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GO Terms for Col1a1/2 Osteogenesis Imperfecta

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

# Name GO ID Score Top Affiliating Genes
1 collagen-containing extracellular matrix GO:0062023 9.32 COL1A2 COL1A1
2 endoplasmic reticulum lumen GO:0005788 9.26 COL1A2 COL1A1
3 extracellular matrix GO:0031012 9.16 COL1A2 COL1A1
4 collagen trimer GO:0005581 8.96 COL1A2 COL1A1
5 collagen type I trimer GO:0005584 8.62 COL1A2 COL1A1

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

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

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 9.26 COL1A2 COL1A1
2 protease binding GO:0002020 9.16 COL1A2 COL1A1
3 extracellular matrix structural constituent conferring tensile strength GO:0030020 8.96 COL1A2 COL1A1
4 platelet-derived growth factor binding GO:0048407 8.62 COL1A2 COL1A1
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Sources for Col1a1/2 Osteogenesis Imperfecta

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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