MCID: CL1004
MIFTS: 31

Col1a1/2-Related Osteogenesis Imperfecta

Categories: Bone diseases

Aliases & Classifications for Col1a1/2-Related Osteogenesis Imperfecta

MalaCards integrated aliases for Col1a1/2-Related Osteogenesis Imperfecta:

Name: Col1a1/2-Related Osteogenesis Imperfecta 25
Osteogenesis Imperfecta 74
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:



External Ids:

UMLS 74 C0029434

Summaries for Col1a1/2-Related Osteogenesis Imperfecta

MalaCards based summary : Col1a1/2-Related Osteogenesis Imperfecta, also known as osteogenesis imperfecta, is related to osteogenesis imperfecta, type v and osteogenesis imperfecta, type iv, and has symptoms including back pain, sciatica and muscle cramp. The drugs Zoledronic Acid and Teriparatide have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and bone marrow.

GeneReviews: NBK1295

Related Diseases for Col1a1/2-Related Osteogenesis Imperfecta

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, sciatica, muscle cramp

Drugs & Therapeutics for Col1a1/2-Related Osteogenesis Imperfecta

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

(show top 50) (show all 63)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Zoledronic Acid Approved Phase 4,Phase 3,Phase 2 118072-93-8 68740
2
Teriparatide Approved, Investigational Phase 4,Phase 2 52232-67-4 16133850
3
Alendronate Approved Phase 4 66376-36-1, 121268-17-5 2088
4
Pamidronate Approved Phase 4,Phase 3,Phase 2,Not Applicable 40391-99-9 4674
5
Parathyroid hormone Approved, Investigational Phase 4 9002-64-6
6
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 5280795 6221
7
Calcium Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Not Applicable 7440-70-2 271
8
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4,Phase 2 1406-16-2
9
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
10 Bone Density Conservation Agents Phase 4,Phase 3,Phase 2,Not Applicable
11 Diphosphonates Phase 4,Phase 3,Phase 2
12 Vitamins Phase 4,Phase 2
13 Calciferol Phase 4,Phase 2
14 Hormones Phase 4,Phase 3,Phase 2,Not Applicable
15 Calcium, Dietary Phase 4,Phase 3,Phase 2,Not Applicable
16 Ergocalciferols Phase 4
17 Nutrients Phase 4
18 Trace Elements Phase 4
19 Vitamin D2 Phase 4
20 Micronutrients Phase 4
21 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Not Applicable
22 Hormone Antagonists Phase 4,Phase 3,Not Applicable
23 Pharmaceutical Solutions Phase 4,Phase 3,Phase 2
24
Risedronate Approved, Investigational Phase 3,Phase 2 105462-24-6 5245
25
Etidronic acid Approved Phase 3,Phase 2 7414-83-7, 2809-21-4 3305
26
Denosumab Approved Phase 3,Phase 2 615258-40-7
27 calcium channel blockers Phase 3,Phase 2
28
Calcium Carbonate Approved, Investigational Phase 2 471-34-1
29 Antacids Phase 2
30 Gastrointestinal Agents Phase 2
31 Anti-Ulcer Agents Phase 2
32 Immunologic Factors Phase 2,Phase 1
33 Antibodies Phase 2,Phase 1
34 Immunoglobulins Phase 2,Phase 1
35 Liver Extracts Phase 1, Phase 2
36
Busulfan Approved, Investigational Phase 1 55-98-1 2478
37
Miconazole Approved, Investigational, Vet_approved Phase 1 22916-47-8 4189
38
Cyclophosphamide Approved, Investigational Phase 1 50-18-0, 6055-19-2 2907
39
Melatonin Approved, Nutraceutical, Vet_approved Phase 1 73-31-4 896
40 Immunosuppressive Agents Phase 1
41 Antineoplastic Agents, Alkylating Phase 1
42 Cyclosporins Phase 1
43 Antirheumatic Agents Phase 1
44 Dermatologic Agents Phase 1
45 Anti-Infective Agents Phase 1
46 Calcineurin Inhibitors Phase 1
47 Alkylating Agents Phase 1
48 Antifungal Agents Phase 1
49 Antioxidants Phase 1
50 Protective Agents Phase 1

Interventional clinical trials:

(show all 47)
# Name Status NCT ID Phase Drugs
1 Effect of High-Dose Vitamin D on Bone Density in Osteogenesis Imperfecta Completed NCT01713231 Phase 4
2 Study of Teriparatide (FORTEO) to Treat Adults With Osteogenesis Imperfecta Completed NCT00131469 Phase 4 Teriparatide (FORTEO);Placebos
3 Efficacy and Safety of Alendronate in Chinese Children or Adolescents With Osteogenesis Imperfecta Completed NCT02303873 Phase 4 Alendronate
4 Bisphosphonate Therapy for Osteogenesis Imperfecta Completed NCT00159419 Phase 4 Alendronate;Pamidronate
5 Treatment of Osteogenesis Imperfecta With Parathyroid Hormone and Zoledronic Acid Recruiting NCT03735537 Phase 4 Teriparatide Pen Injector;Zoledronic Acid
6 An Efficacy and Safety Trial of Intravenous Zoledronic Acid in Infants Less Than One Year of Age, With Severe Osteogenesis Imperfecta Completed NCT00982124 Phase 3 Zoledronic Acid
7 Growth Hormone Therapy in Osteogenesis Imperfecta Completed NCT00001305 Phase 3 Humatrope
8 Safety and Efficacy of Risedronate in the Treatment of Osteogenesis Imperfecta in Children Completed NCT00106028 Phase 3 risedronate sodium (Actonel);Placebo
9 Pamidronate to Treat Osteogenesis Imperfecta in Children Completed NCT00005901 Phase 3 Pamidronate (Aredia)
10 Open-label Extension Denosumab Study in Children and Young Adults With Osteogenesis Imperfecta Recruiting NCT03638128 Phase 3 Denosumab
11 Multicenter,Single-arm Study to Evaluate Efficacy, Safety, & Pharmacokinetics of Denosumab in Children w/ OI Active, not recruiting NCT02352753 Phase 3 Denosumab
12 Do Bisphosphonates Alter the Skeletal Response to Mechanical Stimulation in Children With Osteogenesis Imperfecta? Completed NCT03208582 Phase 2 Risedronate Sodium
13 Translational Therapy in Patients With Osteogenesis Imperfecta - A Pilot Trial on Treatment With the Rankl-Antibody Denosumab Completed NCT01799798 Phase 2 Denosumab
14 Safety, Pharmacokinetics and Pharmacodynamics of BPS804 in Osteogenesis Imperfecta Completed NCT01417091 Phase 2 BPS804
15 Bisphosphonate Treatment of Osteogenesis Imperfecta Completed NCT00063479 Phase 2 Zoledronic Acid
16 Zoledronic Acid in Children (1 -17 Years) With Severe Osteogenesis Imperfecta Completed NCT00131118 Phase 2 Zoledronic Acid
17 Efficacy and Safety of Neridronate (Nerixia®)to Treat Osteoporosis in Patients With TM and TI Completed NCT01140321 Phase 2 Neridronate
18 The Effect of Treatment With Teriparatide and Zoledronic Acid in Patients With Osteogenesis Imperfecta Active, not recruiting NCT01679080 Phase 2 Zoledronic acid;Teriparatide
19 A Study in Adult Patients With Type I, III or IV Osteogenesis Imperfecta Treated With BPS804 Active, not recruiting NCT03118570 Phase 2 BPS804
20 Boost Brittle Bones Before Birth Not yet recruiting NCT03706482 Phase 1, Phase 2
21 An Exploratory Study of BPS804 Treatment in Adult Patients With Type I, III or IV Osteogenesis Imperfecta Withdrawn NCT03216486 Phase 2 BPS804
22 Repeated Infusions of Mesenchymal Stromal Cells in Children With Osteogenesis Imperfecta Completed NCT01061099 Phase 1
23 Treatment of Severe Osteogenesis Imperfecta by Allogeneic Bone Marrow Transplantation Completed NCT00705120 Phase 1 Cyclophosphamide;Cyclosporin;Busulfan
24 Mesenchymal Stem Cell Based Therapy for the Treatment of Osteogenesis Imperfecta Completed NCT02172885 Phase 1
25 Melatonin Osteoporosis Prevention Study Completed NCT01152580 Phase 1
26 Stromal Therapy of Osteodysplasia After Allogeneic Bone Marrow Transplantation Completed NCT00186914 Phase 1
27 Safety of Fresolimumab in the Treatment of Osteogenesis Imperfecta Recruiting NCT03064074 Phase 1 Fresolimumab
28 Diagnosis of Osteogenesis Imperfecta in Children Unknown status NCT03169192 Zoledronic Acid
29 Preventive Fixation of Lower Limbs in Osteogenesis Imperfecta (Brittle Bone Disease) With the Highlight of the Fassier-Duval Unknown status NCT02868294 Not Applicable
30 Development of a Non-invasive Assessment of Human Bone Quality Using Spatially Offset Raman Spectroscopy Unknown status NCT02814591
31 Nutritional Interventional in Pediatric Patients With Osteogenesis Imperfecta Completed NCT03841188 Not Applicable
32 Osteogenesis Imperfecta (OI) Quality of Life Survey Pilot Project 2 Completed NCT02793063
33 Whole Body Vibration Training in Children With Osteogenesis Imperfecta and Limited Mobility Completed NCT03029312 Not Applicable
34 Marrow Mesenchymal Cell Therapy for Osteogenesis Imperfecta: A Pilot Study Completed NCT00187018 Not Applicable
35 Evaluation and Intervention for the Effects of Osteogenesis Imperfecta Completed NCT00001594
36 NGS Strategy Effectiveness in Molecular Diagnosis Completed NCT03557567
37 The Influence of Bisphosphonates in the Oral Cavity in Children Completed NCT00402064
38 Prevention of Post Operative Bone Loss in Children Completed NCT00655681 Not Applicable pamidronate
39 Trial of Lithium Carbonate for Treatment of Osteoporosis-pseudoglioma Syndrome Completed NCT01108068 Not Applicable Lithium
40 BBD Longitudinal Study of Osteogenesis Imperfecta Recruiting NCT02432625
41 Natural History of the Collagen-Related Disorder Osteogenesis Imperfecta and Genotype Phenotype Correlation Recruiting NCT03575221
42 Urinary Biomarkers of OI Pathobiology Recruiting NCT02531087
43 Dental Malocclusion and Craniofacial Development in OI Recruiting NCT02934451
44 Evaluation and Treatment of Patients With Connective Tissue Disease Recruiting NCT00076830
45 Pregnancy in Osteogenesis Imperfecta (OI) Registry Active, not recruiting NCT03072303
46 Effects of a Physical Rehabilitation Program Using the Nintendo Wii on Children With Osteogenesis Imperfecta (OI) Terminated NCT02542540 Not Applicable
47 Growth Hormone for Osteoporosis Pseudoglioma Syndrome Withdrawn NCT01614171 Not Applicable

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

Inferred drug relations via UMLS 74 / NDF-RT 52 :


Genetic Tests for Col1a1/2-Related Osteogenesis Imperfecta

Anatomical Context for Col1a1/2-Related Osteogenesis Imperfecta

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

42
Bone, Skin, Bone Marrow, Testes, Heart, Liver, Brain

Publications for Col1a1/2-Related Osteogenesis Imperfecta

Articles related to Col1a1/2-Related Osteogenesis Imperfecta:

(show top 50) (show all 2877)
# Title Authors Year
1
Aortic aneurysm/dissection and osteogenesis imperfecta: Four new families and review of the literature. ( 30684648 )
2019
2
WNT1-associated osteogenesis imperfecta with atrophic frontal lobes and arachnoid cysts. ( 30692598 )
2019
3
Incorporating the patient perspective in the study of rare bone disease: insights from the osteogenesis imperfecta community. ( 30191258 )
2019
4
Dentinogenesis imperfecta in Osteogenesis imperfecta type XI in South Africa: a genotype-phenotype correlation. ( 30993005 )
2019
5
Stress, Depression, and Quality of Life Among Caregivers of Children With Osteogenesis Imperfecta. ( 30827754 )
2019
6
Osteogenesis Imperfecta Due to Combined Heterozygous Mutations in Both COL1A1 and COL1A2, Coexisting With Pituitary Stalk Interruption Syndrome. ( 30984112 )
2019
7
Ptosis as a unique hallmark for autosomal recessive WNT1-associated osteogenesis imperfecta. ( 30896082 )
2019
8
SURGICAL MANAGEMENT OF RETINAL DETACHMENT IN OSTEOGENESIS IMPERFECTA: CASE REPORT AND REVIEW OF THE LITERATURE. ( 28085759 )
2019
9
Development of scoliosis in young children with osteogenesis imperfecta undergoing intravenous bisphosphonate therapy. ( 30187275 )
2019
10
COL1A2 p.Gly1066Val variant identified in a Han Chinese family with osteogenesis imperfecta type I. ( 30829463 )
2019
11
Otoscopic Manifestations of Osteogenesis Imperfecta Type I. ( 31072201 )
2019
12
17q21.32-q22 Deletion in a girl with osteogenesis imperfecta, tricho-dento-osseous syndrome, and intellectual disability. ( 29896840 )
2019
13
Treatment of tibial deformities with the Fassier-Duval telescopic nail and minimally invasive percutaneous osteotomies in patients with osteogenesis imperfecta type III. ( 30212425 )
2019
14
Personalized surgery approach in severe form of osteogenesis imperfecta type III: point of view. ( 30720562 )
2019
15
Using a corkscrew-tipped telescopic nail in the treatment of osteogenesis imperfecta: a biomechanical study and preliminary results of 17 consecutive cases. ( 30216208 )
2019
16
Longitudinal growth curves for children with classical osteogenesis imperfecta (types III and IV) caused by structural pathogenic variants in type I collagen. ( 30270360 )
2019
17
Osteogenesis imperfecta type VIII: Association with increased nuchal translucency and prenatal diagnosis by targeted exome sequencing. ( 30322678 )
2019
18
Effect of Anti-TGF-β Treatment in a Mouse Model of Severe Osteogenesis Imperfecta. ( 30357929 )
2019
19
A Non-Lethal Osteogenesis Imperfecta Type II Mutation. ( 30408804 )
2019
20
Do femoral fractures in adult patients with osteogenesis imperfecta imitate atypical femoral fractures? A case series. ( 30448959 )
2019
21
Bone Marrow Transplantation for Treatment of the Col1a2+/G610C Osteogenesis Imperfecta Mouse Model. ( 30535573 )
2019
22
Effect of rapamycin on bone mass and strength in the α2(I)-G610C mouse model of osteogenesis imperfecta. ( 30597759 )
2019
23
Genotype-phenotype relationship in a large cohort of osteogenesis imperfecta patients with COL1A1 mutations revealed by a new scoring system. ( 30614853 )
2019
24
Olecranon Fractures in Pediatric Patients With Osteogenesis Imperfecta. ( 30628974 )
2019
25
Osteogenesis Imperfecta: A Need to Understand Divergent Treatment Outcomes in a Disorder Rich in Heterogeneity. ( 30645778 )
2019
26
A homozygous pathogenic missense variant broadens the phenotypic and mutational spectrum of CREB3L1-related osteogenesis imperfecta. ( 30657919 )
2019
27
De novo and inherited pathogenic variants in collagen-related osteogenesis imperfecta. ( 30675999 )
2019
28
Supraglottic Airway Rescue After Failed Fiberoptic Intubation in a Patient With Osteogenesis Imperfecta: A Case Report. ( 30694815 )
2019
29
Assessing disease experience across the life span for individuals with osteogenesis imperfecta: challenges and opportunities for patient-reported outcomes (PROs) measurement: a pilot study. ( 30696467 )
2019
30
Genotypic and phenotypic characterization of Chinese patients with osteogenesis imperfecta. ( 30715774 )
2019
31
The management of osteogenesis imperfecta in adults: state of the art. ( 30742929 )
2019
32
Caries prevalence and experience in individuals with osteogenesis imperfecta: A cross-sectional multicenter study. ( 30758072 )
2019
33
Evidence for a de novo, dominant germ-line mutation causative of osteogenesis imperfecta in two Red Angus calves. ( 30788588 )
2019
34
Bladder and bowel symptoms experienced by children with osteogenesis imperfecta. ( 30802423 )
2019
35
Elastic intramedullary nailing of the femur fracture in patients affected by osteogenesis imperfecta type 3: Indications, limits and pitfalls. ( 30827706 )
2019
36
Current concepts in osteogenesis imperfecta: bone structure, biomechanics and medical management. ( 30838070 )
2019
37
Complex spine deformities in young patients with severe osteogenesis imperfecta: current concepts review. ( 30838072 )
2019
38
Osteogenesis Imperfecta: A Pediatric Orthopedic Perspective. ( 30850078 )
2019
39
Challenges of delivery of dental care and dental pathologies in children and young people with osteogenesis imperfecta. ( 30868445 )
2019
40
Genotype-phenotype correlation study in 364 osteogenesis imperfecta Italian patients. ( 30886339 )
2019
41
Compromised Exercise Capacity and Mitochondrial Dysfunction in the Osteogenesis Imperfecta Murine (oim) Mouse Model. ( 30908713 )
2019
42
NOVEL MUTATIONS IN THE WNT1, TMEM38B, P4HB, AND PLS3 GENES IN FOUR UNRELATED CHINESE FAMILIES WITH OSTEOGENESIS IMPERFECTA. ( 30913006 )
2019
43
Mobility in osteogenesis imperfecta: a multicenter North American study. ( 30918359 )
2019
44
Stakeholder views and attitudes towards prenatal and postnatal transplantation of fetal mesenchymal stem cells to treat Osteogenesis Imperfecta. ( 30918362 )
2019
45
A Case of Osteogenesis Imperfecta Type II With Additional Balanced Translocation t(1;20)(p13;p11.2). ( 30942118 )
2019
46
A novel missense mutation in P4HB causes mild osteogenesis imperfecta. ( 30948499 )
2019
47
Radiation exposure in adult and pediatric patients with osteogenesis imperfecta. ( 30976147 )
2019
48
A novel Ser40Trp variant in IFITM5 in a family with osteogenesis imperfecta and review of the literature. ( 30985308 )
2019
49
Results of stapedotomy in otosurgical treatment of adult patients with osteogenesis imperfecta. ( 31006558 )
2019
50
Use of sliding transphyseal flexible intramedullary nailing in pediatric osteogenesis imperfecta patients. ( 31023194 )
2019

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

GO Terms for Col1a1/2-Related Osteogenesis Imperfecta

Sources for Col1a1/2-Related Osteogenesis Imperfecta

3 CDC
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10 dbSNP
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35 ICD10 via Orphanet
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50 NCI
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52 NDF-RT
55 NINDS
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58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
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75 UMLS via Orphanet
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