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OI
MCID: CL1007
MIFTS: 29

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 24
Brittle Bone Disease 24
Oi 24

Characteristics:

GeneReviews:

24
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 high bone mass osteogenesis imperfecta and cole-carpenter syndrome. An important gene associated with Col1a1/2 Osteogenesis Imperfecta is COL1A1 (Collagen Type I Alpha 1 Chain), and among its related pathways/superpathways are Development Angiotensin activation of ERK and Collagen chain trimerization. The drugs Teriparatide and Calcium have been mentioned in the context of this disorder. Affiliated tissues include bone, heart 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 85)
# Related Disease Score Top Affiliating Genes
1 high bone mass osteogenesis imperfecta 31.8 COL1A2 COL1A1
2 cole-carpenter syndrome 31.4 COL1A2 COL1A1
3 ehlers-danlos/osteogenesis imperfecta syndrome 31.3 COL1A2 COL1A1
4 osteogenesis imperfecta, type v 30.1 COL1A2 COL1A1
5 osteogenesis imperfecta, type vi 30.1 COL1A2 COL1A1
6 osteogenesis imperfecta, type vii 30.1 COL1A2 COL1A1
7 osteogenesis imperfecta, type i 30.1 COL1A2 COL1A1
8 dentinogenesis imperfecta 30.0 COL1A2 COL1A1
9 osteogenesis imperfecta, type ii 30.0 COL1A2 COL1A1
10 osteogenesis imperfecta, type iv 30.0 COL1A2 COL1A1
11 osteogenesis imperfecta, type iii 30.0 COL1A2 COL1A1
12 brittle bone disorder 29.9 COL1A2 COL1A1
13 ehlers-danlos syndrome 29.8 COL1A2 COL1A1
14 bone resorption disease 29.4 COL1A2 COL1A1
15 scoliosis 29.3 COL1A2 COL1A1
16 orthostatic intolerance 11.4
17 postural orthostatic tachycardia syndrome 11.4
18 chronic orthostatic intolerance 11.4
19 ovarian hyperstimulation syndrome 11.3
20 bone disease 10.8
21 osteogenesis imperfecta, type ix 10.3
22 osteogenesis imperfecta, type xix 10.3
23 osteogenesis imperfecta, type viii 10.3
24 osteogenesis imperfecta, type xi 10.3
25 osteogenesis imperfecta, type x 10.3
26 osteogenesis imperfecta, type xii 10.3
27 osteogenesis imperfecta, type xiii 10.3
28 osteogenesis imperfecta, type xiv 10.3
29 osteogenesis imperfecta, type xv 10.3
30 osteogenesis imperfecta, type xvi 10.3
31 osteogenesis imperfecta, type xvii 10.3
32 osteogenesis imperfecta, type xviii 10.3
33 osteogenesis imperfecta, type xx 10.3
34 sensorineural hearing loss 10.3
35 rickets 10.1
36 human immunodeficiency virus type 1 10.1
37 tooth agenesis 10.1
38 cryptococcal meningitis 10.1
39 respiratory failure 10.1
40 cholera 10.1
41 progressive multifocal leukoencephalopathy 10.1
42 dentin dysplasia 10.1
43 speech disorder 10.1
44 meningitis 10.1
45 tuberculous meningitis 10.1
46 spinal cord injury 10.1
47 swallowing disorders 10.1
48 coxa vara 10.0
49 osteoporosis 10.0
50 osteogenic sarcoma 10.0

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):

(show all 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Teriparatide Approved, Investigational Phase 4 52232-67-4 16133850
2
Calcium Approved, Nutraceutical Phase 4 7440-70-2 271
3 Hormones Phase 4
4 Calcium, Dietary Phase 4
5
Zoledronic Acid Approved Phase 2 118072-93-8 68740
6
Pamidronate Approved Phase 2 40391-99-9 4674
7 Antibodies, Monoclonal Phase 2
8 Immunologic Factors Phase 2
9 Antibodies Phase 2
10 Immunoglobulins Phase 2
11 Diphosphonates

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Study to Assess the Effectiveness of Teriparatide (FORTEO) for Increasing Bone Mass and Improving Bone Strength in Adults Affected With Osteogenesis Imperfecta (OI) Completed NCT00131469 Phase 4 Teriparatide (FORTEO);Placebos
2 Efficacy and Safety of Zoledronic Acid in Children (1 -17 Years) With Severe Osteogenesis Imperfecta Completed NCT00131118 Phase 2 Zoledronic Acid
3 Bisphosphonate Treatment of Osteogenesis Imperfecta Completed NCT00063479 Phase 2 Zoledronic Acid
4 A Randomized, Open Label Intra-patient Dose Escalation Study With an Untreated Reference Group to Evaluate Safety and Tolerability, Pharmacokinetics, and Pharmacodynamics of Multiple Infusions of BPS804 in Adults With Moderate Osteogenesis Imperfecta Completed NCT01417091 Phase 2 BPS804
5 Protocol Title: A Phase 2b, Multicentre, Multinational, Double-blind, Dose-finding Study, Incorporating an Open Label Substudy, in Adult Patients With Type I, III or IV Osteogenesis Imperfecta Treated With Setrusumab (BPS804). Active, not recruiting NCT03118570 Phase 2 BPS804
6 Preventive Fixation of Lower Limbs in Osteogenesis Imperfecta (Brittle Bone Disease) With the Highlight of the Fassier-Duval Unknown status NCT02868294
7 Rare Diseases Clinical Research Network Brittle Bone Disease Consortium Longitudinal Study of Osteogenesis Imperfecta Recruiting NCT02432625
8 Registry of Osteogenesis Imperfecta That Collects Clinical, Functional, Genetic, Genealogical, Imaging, Surgical, Quality of Life Data. Data Are Linked to Patients Biological Sample Enrolling by invitation NCT04115774 bisphosphonates

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, Heart, Bone Marrow, Testes, Spinal Cord
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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 177)
# Title Authors PMID Year
1
Non-accidental injury: confusion with temporary brittle bone disease and mild osteogenesis imperfecta. 61 24
9028840 1997
2
Osteogenesis imperfecta. 61 24
1580589 1992
3
Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta. 24
31564437 2019
4
Mendelian bone fragility disorders. 24
31039433 2019
5
Genotype-phenotype correlation study in 364 osteogenesis imperfecta Italian patients. 24
30886339 2019
6
A novel mutation in COL1A2 leads to osteogenesis imperfecta/Ehlers-Danlos overlap syndrome with brachydactyly. 24
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. 24
31131341 2019
8
Aortic aneurysm/dissection and osteogenesis imperfecta: Four new families and review of the literature. 24
30684648 2019
9
The Forteo Patient Registry linkage to multiple state cancer registries: study design and results from the first 8 years. 24
29978254 2018
10
ZOLEDRONIC ACID VERSUS ALENDRONATE IN THE TREATMENT OF CHILDREN WITH OSTEOGENESIS IMPERFECTA: A 2-YEAR CLINICAL STUDY. 24
29466057 2018
11
Denosumab: an Emerging Therapy in Pediatric Bone Disorders. 24
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. 24
28349240 2017
13
Asymptomatic parental mosaicism for osteogenesis imperfecta associated with a new splice site mutation in COL1A2. 24
27761249 2016
14
Safety and efficacy of denosumab in children with osteogenesis imperfect--a first prospective trial. 24
26944820 2016
15
Nosology and classification of genetic skeletal disorders: 2015 revision. 24
26394607 2015
16
Heart disease in patients with osteogenesis imperfecta - A systematic review. 24
26100571 2015
17
Two years' experience with denosumab for children with osteogenesis imperfecta type VI. 24
25257953 2014
18
Bisphosphonate therapy for osteogenesis imperfecta. 24
25054949 2014
19
Evaluation of teriparatide treatment in adults with osteogenesis imperfecta. 24
24463451 2014
20
Transplanted bone marrow mononuclear cells and MSCs impart clinical benefit to children with osteogenesis imperfecta through different mechanisms. 24
22829629 2012
21
EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta. 24
21829228 2012
22
Recurrence of perinatal lethal osteogenesis imperfecta in sibships: parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance. 24
21239989 2011
23
Alendronate for the treatment of pediatric osteogenesis imperfecta: a randomized placebo-controlled study. 24
21106710 2011
24
Genotype-phenotype correlations in autosomal dominant osteogenesis imperfecta. 24
21912751 2011
25
Complete COL1A1 allele deletions in osteogenesis imperfecta. 24
21113976 2010
26
GH in combination with bisphosphonate treatment in osteogenesis imperfecta. 24
20592128 2010
27
A randomized, controlled dose-ranging study of risedronate in children with moderate and severe osteogenesis imperfecta. 24
19580461 2010
28
Osteogenesis imperfecta: recent findings shed new light on this once well-understood condition. 24
19533842 2009
29
Osteogenesis imperfecta type III with intracranial hemorrhage and brachydactyly associated with mutations in exon 49 of COL1A2. 24
19208385 2009
30
Connective tissue and vascular phenotype in patients with cervical artery dissection. 24
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. 24
17211858 2007
32
Stapes surgery in Japanese patients with osteogenesis imperfecta. 24
17245052 2007
33
Syndromes with congenital brittle bones. 24
15339338 2004
34
Stapes surgery in osteogenesis imperfecta in Finland. 24
15053199 2004
35
Stapes surgery in osteogenesis imperfecta: results of a new series. 24
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. 24
12568401 2003
37
Intravenous neridronate in adults with osteogenesis imperfecta. 24
12510813 2003
38
Pamidronate treatment of severe osteogenesis imperfecta in a newborn infant. 24
12638943 2002
39
Testing for osteogenesis imperfecta in cases of suspected non-accidental injury. 24
12070242 2002
40
Osteogenesis imperfecta: mode of delivery and neonatal outcome. 24
11152910 2001
41
Pamidronate treatment of severe osteogenesis imperfecta in children under 3 years of age. 24
10843163 2000
42
Bone mineral content and collagen defects in osteogenesis imperfecta. 24
10565454 1999
43
Osteogenesis imperfecta: bone turnover, bone density, and ultrasound parameters. 24
10430645 1999
44
Basilar impression complicating osteogenesis imperfecta type IV: the clinical and neuroradiological findings in four cases. 24
10084535 1999
45
Osteogenesis imperfecta. Rehabilitation and prospects for gene therapy. 24
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. 24
8757037 1996
47
Studies of collagen synthesis and structure in the differentiation of child abuse from osteogenesis imperfecta. 24
8618190 1996
48
Gastrointestinal problems in patients who have type-III osteogenesis imperfecta. 24
7673285 1995
49
Perinatal lethal osteogenesis imperfecta. 24
7643358 1995
50
Bone density measurement in osteogenesis imperfecta may well be important. 24
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
Development Angiotensin activation of ERK 22
Show member pathways
 12.32 COL1A2 COL1A1
2
Collagen chain trimerization 65
Show member pathways
 12.31 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 22
Show member pathways
 12.14 COL1A2 COL1A1
6
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases 22
Show member pathways
 12.09 COL1A2 COL1A1
7
Proteoglycans in cancer 36
11.83 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 22
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 22
10.86 COL1A2 COL1A1
17
Development_Hedgehog and PTH signaling pathways in bone and cartilage development 22
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 cellular response to amino acid stimulus GO:0071230 9.26 COL1A2 COL1A1
8 blood vessel development GO:0001568 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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