MCID: OST005
MIFTS: 68

Osteogenesis Imperfecta

Categories: Rare diseases, Genetic diseases, Bone diseases, Fetal diseases, Oral diseases

Aliases & Classifications for Osteogenesis Imperfecta

MalaCards integrated aliases for Osteogenesis Imperfecta:

Name: Osteogenesis Imperfecta 12 72 50 24 25 56 29 52 41 42 14 69
Brittle Bone Disease 12 50 24 25 56
Oi 50 24 25 56
Fragilitas Ossium 12 50 25
Osteopsathyrosis 12 50 56
Porak and Durante Disease 50 56
Lobstein Disease 50 56
Vrolik Disease 50 25
Osteogenesis Imperfecta, Recessive Perinatal Lethal 69
Osteogenesis Imperfecta, Dominant Perinatal Lethal 69
Lobstein's Syndrome 12
Glass Bone Disease 56
Lobstein's Disease 69
Vrolik's Disease 12

Characteristics:

Orphanet epidemiological data:

56
osteogenesis imperfecta
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-5/10000 (Europe),1-9/100000 (France),1-9/100000 (Finland),1-9/1000000 (Latin America),1-9/100000 (Ireland),1-9/100000 (United States),1-9/100000 (Sweden); Age of onset: All ages;

Classifications:



Summaries for Osteogenesis Imperfecta

MedlinePlus : 41 osteogenesis imperfecta (oi) is a genetic disorder in which bones break easily. sometimes the bones break for no known reason. oi can also cause weak muscles, brittle teeth, a curved spine, and hearing loss. oi is caused by one of several genes that aren't working properly. when these genes don't work, it affects how you make collagen, a protein that helps make bones strong. oi can range from mild to severe, and symptoms vary from person to person. a person may have just a few or as many as several hundred fractures in a lifetime. no single test can identify oi. your doctor uses your medical and family history, physical exam, and imaging and lab tests to diagnose it. your doctor may also test your collagen (from skin) or genes (from blood). there is no cure, but you can manage symptoms. treatments include exercise, pain medicine, physical therapy, wheelchairs, braces, and surgery. nih: national institute of arthritis and musculoskeletal and skin diseases

MalaCards based summary : Osteogenesis Imperfecta, also known as brittle bone disease, is related to osteogenesis imperfecta, type iv and osteogenesis imperfecta, type viii, and has symptoms including short stature, scoliosis and visual impairment. An important gene associated with Osteogenesis Imperfecta is COL1A2 (Collagen Type I Alpha 2 Chain), and among its related pathways/superpathways are Collagen chain trimerization and Degradation of the extracellular matrix. The drugs Teriparatide and Alendronate have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and testes, and related phenotypes are growth/size/body region and craniofacial

NIH Rare Diseases : 50 osteogenesis imperfecta (oi) is a group of genetic disorders that mainly affect the bones. people with this condition have bones that break easily, often from little or no trauma. severity varies among affected people. multiple fractures are common, and in severe cases, can even occur before birth. milder cases may involve only a few fractures over a person's lifetime. people with oi also have dental problems (dentinogenesis imperfecta) and hearing loss in adulthood. other features may include muscle weakness, loose joints, and skeletal malformations. there are various recognized forms of oi which are distinguished by their features and genetic causes. depending on the genetic cause, oi may be inherited in an autosomal dominant (more commonly) or autosomal recessive manner. treatment is supportive and aims to decrease the number of fractures and disabilities. last updated: 10/6/2015

Genetics Home Reference : 25 Osteogenesis imperfecta (OI) is a group of genetic disorders that mainly affect the bones. The term "osteogenesis imperfecta" means imperfect bone formation. People with this condition have bones that break easily, often from mild trauma or with no apparent cause. Multiple fractures are common, and in severe cases, can occur even before birth. Milder cases may involve only a few fractures over a person's lifetime.

Disease Ontology : 12 An osteochondrodysplasia that has material basis in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue.

Wikipedia : 72 Osteogenesis imperfecta (OI), also known as brittle bone disease, is a group of genetic disorders that... more...

Related Diseases for Osteogenesis Imperfecta

Diseases in the Osteogenesis Imperfecta family:

Osteogenesis Imperfecta, Type Viii Osteogenesis Imperfecta, Type Vii
Osteogenesis Imperfecta, Type Xvii Osteogenesis Imperfecta, Type Iv
Osteogenesis Imperfecta, Type Iii Osteogenesis Imperfecta, Type Ii
Osteogenesis Imperfecta, Type Xiii Osteogenesis Imperfecta, Type Xiv
Osteogenesis Imperfecta, Type V Osteogenesis Imperfecta, Type Xvi
Osteogenesis Imperfecta, Type X Osteogenesis Imperfecta, Type Xv
Osteogenesis Imperfecta, Type Xii Osteogenesis Imperfecta, Type Ix
Osteogenesis Imperfecta, Type Vi Osteogenesis Imperfecta, Type Xi
Osteogenesis Imperfecta, Type I Bmp1-Related Osteogenesis Imperfecta
Crtap-Related Osteogenesis Imperfecta Fkbp10-Related Osteogenesis Imperfecta
Ifitm5-Related Osteogenesis Imperfecta P3h1-Related Osteogenesis Imperfecta
Ppib-Related Osteogenesis Imperfecta Serpinf1-Related Osteogenesis Imperfecta
Serpinh1-Related Osteogenesis Imperfecta Sp7-Related Osteogenesis Imperfecta
Tmem38b-Related Osteogenesis Imperfecta Sparc-Related Osteogenesis Imperfecta
Wnt1-Related Osteogenesis Imperfecta

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

(show top 50) (show all 215)
id Related Disease Score Top Affiliating Genes
1 osteogenesis imperfecta, type iv 35.0 COL1A1 COL1A2
2 osteogenesis imperfecta, type viii 34.6 COL1A1 COL1A2 CRTAP P3H1
3 bruck syndrome 1 33.2 CRTAP FKBP10
4 osteogenesis imperfecta, type iii 30.3 CD36 COL1A1 COL1A2 CRTAP DSPP FKBP10
5 osteogenesis imperfecta, type ii 29.6 BGLAP BMP1 CD36 COL1A1 COL1A2 CREB3L1
6 osteogenesis imperfecta, type i 12.7
7 osteogenesis imperfecta, type vi 12.6
8 osteogenesis imperfecta, type v 12.6
9 osteogenesis imperfecta, type vii 12.6
10 osteogenesis imperfecta, type ix 12.5
11 osteogenesis imperfecta, type xi 12.5
12 osteogenesis imperfecta, type xiv 12.5
13 osteogenesis imperfecta, type xv 12.5
14 osteogenesis imperfecta, type x 12.5
15 osteogenesis imperfecta, type xii 12.5
16 osteogenesis imperfecta, type xiii 12.5
17 osteogenesis imperfecta, type xvi 12.4
18 osteogenesis imperfecta, type xvii 12.4
19 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures 12.2
20 osteogenesis imperfecta levin type 12.2
21 high bone mass osteogenesis imperfecta 12.1
22 perinatally lethal osteogenesis imperfecta 12.1
23 osteogenesis imperfecta congenita, microcephaly, and cataracts 12.1
24 progressively deforming osteogenesis imperfecta 12.1
25 col1a1/2-related osteogenesis imperfecta 12.1
26 bruck syndrome 11.9
27 wnt1-related osteogenesis imperfecta 11.9
28 tmem38b-related osteogenesis imperfecta 11.9
29 classic non-deforming osteogenesis imperfecta with blue sclerae 11.9
30 common variable osteogenesis imperfecta with normal sclerae 11.9
31 sparc-related osteogenesis imperfecta 11.9
32 dentinogenesis imperfecta 11.9
33 fkbp10-related osteogenesis imperfecta 11.9
34 ifitm5-related osteogenesis imperfecta 11.9
35 p3h1-related osteogenesis imperfecta 11.9
36 ppib-related osteogenesis imperfecta 11.9
37 osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome 11.9
38 serpinf1-related osteogenesis imperfecta 11.9
39 serpinh1-related osteogenesis imperfecta 11.9
40 ehlers-danlos/osteogenesis imperfecta syndrome 11.9
41 sp7-related osteogenesis imperfecta 11.9
42 bmp1-related osteogenesis imperfecta 11.9
43 crtap-related osteogenesis imperfecta 11.9
44 dentinogenesis imperfecta, shields type ii 11.6
45 osteoporosis-pseudoglioma syndrome 11.6
46 al gazali sabrinathan nair syndrome 11.5
47 bruck syndrome 2 11.5
48 cole-carpenter syndrome 11.5
49 gracile bone dysplasia 11.3
50 idiopathic juvenile osteoporosis 11.3

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



Diseases related to Osteogenesis Imperfecta

Symptoms & Phenotypes for Osteogenesis Imperfecta

Human phenotypes related to Osteogenesis Imperfecta:

56 32 (show top 50) (show all 56)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 occasional (7.5%) Occasional (29-5%) HP:0004322
2 scoliosis 56 32 frequent (33%) Frequent (79-30%) HP:0002650
3 visual impairment 56 32 frequent (33%) Frequent (79-30%) HP:0000505
4 umbilical hernia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001537
5 thrombocytopenia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001873
6 micrognathia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000347
7 thin ribs 56 32 hallmark (90%) Very frequent (99-80%) HP:0000883
8 wormian bones 56 32 occasional (7.5%) Occasional (29-5%) HP:0002645
9 kyphosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002808
10 femoral bowing 56 32 frequent (33%) Frequent (79-30%) HP:0002980
11 intrauterine growth retardation 56 32 hallmark (90%) Very frequent (99-80%) HP:0001511
12 large fontanelles 56 32 frequent (33%) Frequent (79-30%) HP:0000239
13 glaucoma 56 32 frequent (33%) Frequent (79-30%) HP:0000501
14 osteoporosis 56 32 frequent (33%) Frequent (79-30%) HP:0000939
15 pectus carinatum 56 32 hallmark (90%) Very frequent (99-80%) HP:0000768
16 genu valgum 56 32 frequent (33%) Frequent (79-30%) HP:0002857
17 narrow chest 56 32 frequent (33%) Frequent (79-30%) HP:0000774
18 macrocephaly 56 32 hallmark (90%) Very frequent (99-80%) HP:0000256
19 inguinal hernia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000023
20 pectus excavatum 56 32 occasional (7.5%) Occasional (29-5%) HP:0000767
21 osteopenia 56 32 frequent (33%) Frequent (79-30%) HP:0000938
22 recurrent fractures 56 32 occasional (7.5%) Occasional (29-5%) HP:0002757
23 brachycephaly 56 32 hallmark (90%) Very frequent (99-80%) HP:0000248
24 triangular face 56 32 frequent (33%) Frequent (79-30%) HP:0000325
25 joint hyperflexibility 56 32 frequent (33%) Frequent (79-30%) HP:0005692
26 micromelia 56 32 occasional (7.5%) Occasional (29-5%) HP:0002983
27 prominent occiput 56 32 hallmark (90%) Very frequent (99-80%) HP:0000269
28 hyperhidrosis 56 32 frequent (33%) Frequent (79-30%) HP:0000975
29 blue sclerae 56 32 hallmark (90%) Very frequent (99-80%) HP:0000592
30 gait disturbance 56 32 hallmark (90%) Very frequent (99-80%) HP:0001288
31 dentinogenesis imperfecta 56 32 hallmark (90%) Very frequent (99-80%) HP:0000703
32 corneal opacity 56 32 frequent (33%) Frequent (79-30%) HP:0007957
33 hearing impairment 56 32 occasional (7.5%) Occasional (29-5%) HP:0000365
34 decreased skull ossification 56 32 hallmark (90%) Very frequent (99-80%) HP:0004331
35 protrusio acetabuli 56 32 frequent (33%) Frequent (79-30%) HP:0003179
36 diaphyseal thickening 56 32 hallmark (90%) Very frequent (99-80%) HP:0005019
37 carious teeth 56 32 hallmark (90%) Very frequent (99-80%) HP:0000670
38 convex nasal ridge 56 32 hallmark (90%) Very frequent (99-80%) HP:0000444
39 biconcave vertebral bodies 56 32 frequent (33%) Frequent (79-30%) HP:0004586
40 abnormal cortical bone morphology 56 32 frequent (33%) Frequent (79-30%) HP:0003103
41 abnormality of the endocardium 56 32 occasional (7.5%) Occasional (29-5%) HP:0004306
42 visceral angiomatosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0100761
43 abnormality of dental enamel 56 32 hallmark (90%) Very frequent (99-80%) HP:0000682
44 abnormality of dental color 56 32 hallmark (90%) Very frequent (99-80%) HP:0011073
45 slender long bone 56 32 frequent (33%) Frequent (79-30%) HP:0003100
46 bowing of the long bones 56 Frequent (79-30%)
47 abnormality of the teeth 56 Very frequent (99-80%)
48 abnormality of the metaphyses 56 Very frequent (99-80%)
49 malformation of the heart and great vessels 56 Frequent (79-30%)
50 abnormal form of the vertebral bodies 56 Frequent (79-30%)

UMLS symptoms related to Osteogenesis Imperfecta:


back pain, muscle cramp, sciatica

MGI Mouse Phenotypes related to Osteogenesis Imperfecta:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.06 COL1A1 COL1A2 BMP1 CD36 SERPINH1 SPARC
2 craniofacial MP:0005382 9.97 COL1A1 FKBP10 IFITM5 PPIB SERPINH1 SPARC
3 limbs/digits/tail MP:0005371 9.96 BMP1 COL1A1 COL1A2 FKBP10 IFITM5 P3H1
4 mortality/aging MP:0010768 9.93 BMP1 CD36 COL1A1 COL1A2 FKBP10 IFITM5
5 muscle MP:0005369 9.5 BMP1 CD36 COL1A1 COL1A2 P3H1 TMEM38B
6 skeleton MP:0005390 9.5 BMP1 CD36 COL1A1 COL1A2 CREB3L1 CRTAP

Drugs & Therapeutics for Osteogenesis Imperfecta

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

(show top 50) (show all 54)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Teriparatide Approved, Investigational Phase 4,Phase 2 52232-67-4 16133850
2
Alendronate Approved Phase 4 121268-17-5, 66376-36-1 2088
3
Pamidronate Approved Phase 4,Phase 3,Phase 2 40391-99-9 4674
4
Cholecalciferol Approved, Nutraceutical Phase 4 67-97-0 6221 10883523 5280795
5
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
6
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4,Phase 2 1406-16-2
7 Bone Density Conservation Agents Phase 4,Phase 3,Phase 2
8 Ergocalciferols Phase 4
9 Micronutrients Phase 4
10 Trace Elements Phase 4
11 Vitamins Phase 4,Phase 2
12 Diphosphonates Phase 4,Phase 3,Phase 2
13 Calciferol Nutraceutical Phase 4
14 Vitamin D2 Nutraceutical Phase 4
15
Etidronic acid Approved Phase 3,Phase 2 7414-83-7, 2809-21-4 3305
16
Zoledronic acid Approved Phase 3,Phase 2 118072-93-8 68740
17
Denosumab Approved Phase 3,Phase 2 615258-40-7
18 Hormone Antagonists Phase 3
19 Hormones Phase 3
20 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
21 calcium channel blockers Phase 3,Phase 2
22 Calcium, Dietary Phase 3,Phase 2
23 Risedronate Sodium Phase 3,Phase 2 115436-72-1
24
Calcium Carbonate Approved Phase 2 471-34-1
25 Antibodies Phase 2,Phase 1
26 Immunoglobulins Phase 2,Phase 1
27 Pharmaceutical Solutions Phase 2
28 Antacids Phase 2
29 Anti-Ulcer Agents Phase 2
30 Gastrointestinal Agents Phase 2
31
Busulfan Approved, Investigational Phase 1 55-98-1 2478
32
Cyclophosphamide Approved, Investigational Phase 1 50-18-0, 6055-19-2 2907
33
Miconazole Approved, Investigational, Vet_approved Phase 1 22916-47-8 4189
34 Alkylating Agents Phase 1
35 Antifungal Agents Phase 1
36 Anti-Infective Agents Phase 1
37 Antirheumatic Agents Phase 1
38 Calcineurin Inhibitors Phase 1
39 Cyclosporins Phase 1
40 Dermatologic Agents Phase 1
41 Immunosuppressive Agents Phase 1
42 Antibodies, Monoclonal Phase 1
43
Menthol Approved 2216-51-5 16666
44 Antidepressive Agents
45 Antimanic Agents
46 Central Nervous System Depressants
47 Lithium carbonate 554-13-2
48 Psychotropic Drugs
49 Tranquilizing Agents
50 Anabolic Agents

Interventional clinical trials:

(show all 39)

id Name Status NCT ID Phase Drugs
1 Study of Teriparatide (FORTEO) to Treat Adults With Osteogenesis Imperfecta Completed NCT00131469 Phase 4 Teriparatide (FORTEO)
2 Effect of High-Dose Vitamin D on Bone Density in Osteogenesis Imperfecta Completed NCT01713231 Phase 4
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 Growth Hormone Therapy in Osteogenesis Imperfecta Completed NCT00001305 Phase 3 Humatrope;Nutropin;GRH
6 Safety and Efficacy of Risedronate in the Treatment of Osteogenesis Imperfecta in Children Completed NCT00106028 Phase 3 risedronate sodium (Actonel);Placebo
7 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
8 Pamidronate to Treat Osteogenesis Imperfecta in Children Completed NCT00005901 Phase 3 Pamidronate (Aredia)
9 Multicenter,Single-arm Study to Evaluate Efficacy, Safety, & Pharmacokinetics of Denosumab in Children w/ OI Recruiting NCT02352753 Phase 3 Denosumab
10 Bisphosphonate Treatment of Osteogenesis Imperfecta Completed NCT00063479 Phase 2 Zoledronic Acid
11 Safety, Pharmacokinetics and Pharmacodynamics of BPS804 in Osteogenesis Imperfecta Completed NCT01417091 Phase 2 BPS804
12 Zoledronic Acid in Children (1 -17 Years) With Severe Osteogenesis Imperfecta Completed NCT00131118 Phase 2 Zoledronic Acid
13 Translational Therapy in Patients With Osteogenesis Imperfecta - A Pilot Trial on Treatment With the Rankl-Antibody Denosumab Completed NCT01799798 Phase 2 Denosumab
14 Efficacy and Safety of Neridronate (Nerixia®)to Treat Osteoporosis in Patients With TM and TI Completed NCT01140321 Phase 2 Neridronate
15 An Exploratory Study of BPS804 Treatment in Adult Patients With Type I, III or IV Osteogenesis Imperfecta Recruiting NCT03216486 Phase 2 BPS804
16 The Effect of Treatment With Teriparatide and Zoledronic Acid in Patients With Osteogenesis Imperfecta Recruiting NCT01679080 Phase 2 Zoledronic acid;Teriparatide
17 Do Bisphosphonates Alter the Skeletal Response to Mechanical Stimulation in Children With Osteogenesis Imperfecta? Recruiting NCT03208582 Phase 2 Risedronate Sodium
18 A Study in Adult Patients With Type I, III or IV Osteogenesis Imperfecta Treated With BPS804 Recruiting NCT03118570 Phase 2 BPS804;Placebo IV Infusion 5% Dextrose
19 Repeated Infusions of Mesenchymal Stromal Cells in Children With Osteogenesis Imperfecta Completed NCT01061099 Phase 1
20 Treatment of Severe Osteogenesis Imperfecta by Allogeneic Bone Marrow Transplantation Completed NCT00705120 Phase 1 Cyclophosphamide;Cyclosporin;Busulfan
21 Stromal Therapy of Osteodysplasia After Allogeneic Bone Marrow Transplantation Completed NCT00186914 Phase 1
22 Safety of Fresolimumab in the Treatment of Osteogenesis Imperfecta Recruiting NCT03064074 Phase 1 Fresolimumab
23 Mesenchymal Stem Cell Based Therapy for the Treatment of Osteogenesis Imperfecta Active, not recruiting NCT02172885 Phase 1
24 Marrow Mesenchymal Cell Therapy for Osteogenesis Imperfecta: A Pilot Study Completed NCT00187018
25 Osteogenesis Imperfecta (OI) Quality of Life Survey Pilot Project 2 Completed NCT02793063
26 Whole Body Vibration Training in Children With Osteogenesis Imperfecta and Limited Mobility Completed NCT03029312
27 The Influence of Bisphosphonates in the Oral Cavity in Children Completed NCT00402064
28 Prevention of Post Operative Bone Loss in Children Completed NCT00655681 pamidronate
29 Trial of Lithium Carbonate for Treatment of Osteoporosis-pseudoglioma Syndrome Completed NCT01108068 Lithium
30 Evaluation and Intervention for the Effects of Osteogenesis Imperfecta Recruiting NCT00001594
31 BBD Longitudinal Study of Osteogenesis Imperfecta Recruiting NCT02432625
32 Pregnancy in Osteogenesis Imperfecta (OI) Registry Recruiting NCT03072303
33 Preventive Fixation of Lower Limbs in Osteogenesis Imperfecta (Brittle Bone Disease) With the Highlight of the Fassier-Duval Recruiting NCT02868294
34 Urinary Biomarkers of OI Pathobiology Recruiting NCT02531087
35 Dental Malocclusion and Craniofacial Development in OI Recruiting NCT02934451
36 Development of a Non-invasive Assessment of Human Bone Quality Using Spatially Offset Raman Spectroscopy Enrolling by invitation NCT02814591
37 Diagnosis of Osteogenesis Imperfecta in Children Not yet recruiting NCT03169192 Zoledronic Acid
38 Effects of a Physical Rehabilitation Program Using the Nintendo Wii on Children With Osteogenesis Imperfecta (OI) Terminated NCT02542540
39 Growth Hormone for Osteoporosis Pseudoglioma Syndrome Withdrawn NCT01614171

Search NIH Clinical Center for Osteogenesis Imperfecta

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


Cochrane evidence based reviews: osteogenesis imperfecta

Genetic Tests for Osteogenesis Imperfecta

Genetic tests related to Osteogenesis Imperfecta:

id Genetic test Affiliating Genes
1 Osteogenesis Imperfecta 29 24

Anatomical Context for Osteogenesis Imperfecta

MalaCards organs/tissues related to Osteogenesis Imperfecta:

39
Bone, Skin, Testes, Eye, Bone Marrow, Heart, Kidney

Publications for Osteogenesis Imperfecta

Articles related to Osteogenesis Imperfecta:

(show top 50) (show all 1053)
id Title Authors Year
1
Comment on "The effect of whole body vibration training on bone and muscle function in children with osteogenesis imperfecta." ( 28938436 )
2017
2
Static postural control in youth with osteogenesis imperfecta type I. ( 28433416 )
2017
3
A novel COL1A1 mutation causing a variant of osteogenesis imperfecta. ( 28872564 )
2017
4
The chaperone activity of 4PBA ameliorates the skeletal phenotype of Chihuahua, a zebrafish model for dominant osteogenesis imperfecta. ( 28475764 )
2017
5
A Rare Case of Bilateral Morgagni's Hernia with Intestinal Obstruction and Malrotation of the Gut in an Adult Patient with Severe Osteogenesis Imperfecta Presenting as Severe Respiratory Distress. ( 28442844 )
2017
6
Progressive Bilateral Vertebral Artery Dissection in a Case of Osteogenesis Imperfecta. ( 28089253 )
2017
7
The effect of whole body vibration training on bone and muscle function in children with osteogenesis imperfecta. ( 28472303 )
2017
8
Responsiveness to pamidronate treatment is not related to the genotype of type I collagen in patients with osteogenesis imperfecta. ( 28528406 )
2017
9
Next-Generation Sequencing Reveals One Novel Missense Mutation in COL1A2 Gene in an Iranian Family with Osteogenesis imperfecta ( 28431466 )
2017
10
Managing the patient with osteogenesis imperfecta: a multidisciplinary approach. ( 28435282 )
2017
11
Osteogenesis imperfecta complicated with renal hypoplasia leads to chronic kidney disease. ( 28317307 )
2017
12
Total femur arthroplasty for revision hip failure in osteogenesis imperfecta: limits of biology. ( 28913398 )
2017
13
Osteogenesis imperfecta: diagnosis and treatment. ( 28863000 )
2017
14
Re-alignment and intramedullary rodding of the humerus and forearm in children with osteogenesis imperfecta: revision rate and effect on fracture rate. ( 28828061 )
2017
15
Osteogenesis imperfecta. ( 28820189 )
2017
16
Clinical application of quantitative computed tomography in osteogenesis imperfecta suspected cat. ( 28057908 )
2017
17
Molecular diagnosis in children with fractures but no extraskeletal signs of osteogenesis imperfecta. ( 28378289 )
2017
18
Muscle Function in Osteogenesis Imperfecta Type IV. ( 28474170 )
2017
19
Novel missense loss-of-function mutations of WNT1 in an autosomal recessive Osteogenesis imperfecta patient. ( 28528193 )
2017
20
How frequent is osteogenesis imperfecta in patients with idiopathic osteoporosis?: Case reports. ( 28858097 )
2017
21
A novel COL1A2 C-propeptide cleavage site mutation causing high bone mass osteogenesis imperfecta with a regional distribution pattern. ( 28916840 )
2017
22
Application of 3-Dimensional Printing in a Case of Osteogenesis Imperfecta for Patient Education, Anatomic Understanding, Preoperative Planning, and Intraoperative Evaluation. ( 28823657 )
2017
23
Response to letter: The effect of whole body vibration training on bone and muscle function in children with osteogenesis imperfecta. ( 28938474 )
2017
24
Compound heterozygous mutations in COL1A1 associated with an atypical form of type I osteogenesis imperfecta. ( 28436160 )
2017
25
Femoral neck fractures in osteogenesis imperfecta treated with bisphosphonates. ( 28828062 )
2017
26
Mutations in COL1A1 and COL1A2 and dental aberrations in children and adolescents with osteogenesis imperfecta - A retrospective cohort study. ( 28498836 )
2017
27
Gene expression profiling of bone marrow mesenchymal stem cells from Osteogenesis Imperfecta patients during osteoblast differentiation. ( 28396251 )
2017
28
Developmental charts for children with osteogenesis imperfecta, type I (body height, body weight and BMI). ( 28058531 )
2017
29
[Corrigendum] Clinical characteristics and the identification of novel mutations of COL1A1 and COL1A2 in 61A Chinese patients with osteogenesis imperfecta. ( 28035422 )
2017
30
Isolated olecranon fractures in children affected by osteogenesis imperfecta type I treated with single screw or tension band wiring system: Outcomes and pitfalls in relation to bone mineral density. ( 28514292 )
2017
31
Surgical Treatment With Pedicle Screws of Scoliosis Associated With Osteogenesis Imperfecta in Children. ( 28882354 )
2017
32
Combination sclerostin antibody and zoledronic acid treatment outperforms either treatment alone in a mouse model of osteogenesis imperfecta. ( 28461254 )
2017
33
Novel mutations in FKBP10 in Chinese patients with osteogenesis imperfecta and their treatment with zoledronic acid. ( 27762305 )
2017
34
An ENU-induced splice site mutation of mouse Col1a1 causing recessive osteogenesis imperfecta and revealing a novel splicing rescue. ( 28916811 )
2017
35
Targeted exome sequencing identifies novel compound heterozygous mutations in P3H1 in a fetus with osteogenesis imperfecta type VIII. ( 27864101 )
2017
36
Therapy with pamidronate in children with osteogenesis imperfecta. ( 28894358 )
2017
37
Bisphosphonate therapy and osteogenesis imperfecta: The lived experience of children and their mothers. ( 28876506 )
2017
38
Letter to the Editor: Therapies for Osteogenesis Imperfecta. ( 28527487 )
2017
39
Femoral and Lumbar Fractures During Rehabilitation for a Traumatic Spinal Cord Injury in Osteogenesis Imperfecta: A Case Presentation. ( 28483687 )
2017
40
Confirmation of the pathogenicity of a mutation p.G337C in the COL1A2 gene associated with osteogenesis imperfecta. ( 28953610 )
2017
41
Combined Spinal-Epidural Anesthesia With Dexmedetomidine-Based Sedation for Multiple Corrective Osteotomies in a Child With Osteogenesis Imperfecta Type III: A Case Report. ( 28448325 )
2017
42
Application of nexta89generation sequencing for molecular diagnosis in a large family with osteogenesis imperfecta type I. ( 28901398 )
2017
43
Evaluation of Fracture and Osteotomy Union in the Setting of Osteogenesis Imperfecta: Reliability of the Modified Radiographic Union Score for Tibial Fractures (RUST). ( 28902000 )
2017
44
Osteogenesis imperfecta type 3 in South Africa: Causative mutations in FKBP10. ( 28492130 )
2017
45
Osteogenesis imperfecta Type IV: a newly identified variant at position c.560 (G > T; p.Gly187Val) in the COL1A2 gene. ( 28904723 )
2017
46
The Spine in Patients With Osteogenesis Imperfecta. ( 28009707 )
2017
47
Long-Term Bisphosphonate Therapy in Osteogenesis Imperfecta. ( 28823022 )
2017
48
WHOLE-BODY VIBRATION EXERCISE IMPROVES FUNCTIONAL PARAMETERS IN PATIENTS WITH OSTEOGENESIS IMPERFECTA: A SYSTEMATIC REVIEW WITH A SUITABLE APPROACH. ( 28480432 )
2017
49
SURGICAL MANAGEMENT OF RETINAL DETACHMENT IN OSTEOGENESIS IMPERFECTA: CASE REPORT AND REVIEW OF THE LITERATURE. ( 28085759 )
2017
50
Splenomegaly, myeloid lineage expansion and increased osteoclastogenesis in osteogenesis imperfecta murine. ( 28600151 )
2017

Variations for Osteogenesis Imperfecta

ClinVar genetic disease variations for Osteogenesis Imperfecta:

6 (show all 35)
id Gene Variation Type Significance SNP ID Assembly Location
1 COL1A1 NM_000088.3(COL1A1): c.994G> A (p.Gly332Arg) single nucleotide variant Pathogenic rs72645357 GRCh37 Chromosome 17, 48273524: 48273524
2 COL1A1 NM_000088.3(COL1A1): c.787G> A (p.Gly263Arg) single nucleotide variant Pathogenic rs72645323 GRCh37 Chromosome 17, 48274388: 48274388
3 COL1A1 NM_000088.3(COL1A1): c.1021G> T (p.Gly341Cys) single nucleotide variant Likely pathogenic rs193922137 GRCh37 Chromosome 17, 48273319: 48273319
4 COL1A1 NM_000088.3(COL1A1): c.1200+1G> A single nucleotide variant Pathogenic rs72648320 GRCh37 Chromosome 17, 48272794: 48272794
5 COL1A1 NM_000088.3(COL1A1): c.1235C> G (p.Pro412Arg) single nucleotide variant Likely pathogenic rs193922138 GRCh37 Chromosome 17, 48272657: 48272657
6 COL1A1 NM_000088.3(COL1A1): c.1544G> C (p.Gly515Ala) single nucleotide variant Likely pathogenic rs193922140 GRCh37 Chromosome 17, 48271780: 48271780
7 COL1A1 NM_000088.3(COL1A1): c.1583G> A (p.Arg528His) single nucleotide variant Likely pathogenic rs144751329 GRCh37 Chromosome 17, 48271741: 48271741
8 COL1A1 NM_000088.3(COL1A1): c.1657delA (p.Thr553Leufs) deletion Likely pathogenic rs193922141 GRCh37 Chromosome 17, 48271502: 48271502
9 COL1A1 NM_000088.3(COL1A1): c.1812delT (p.Gly605Alafs) deletion Likely pathogenic rs193922143 GRCh37 Chromosome 17, 48270364: 48270364
10 COL1A1 NM_000088.3(COL1A1): c.2062C> T (p.Gln688Ter) single nucleotide variant Likely pathogenic rs193922144 GRCh37 Chromosome 17, 48269214: 48269214
11 COL1A1 NM_000088.3(COL1A1): c.2161C> T (p.Gln721Ter) single nucleotide variant Pathogenic/Likely pathogenic rs193922145 GRCh37 Chromosome 17, 48268818: 48268818
12 COL1A1 NM_000088.3(COL1A1): c.2398-1G> C single nucleotide variant Likely pathogenic rs193922147 GRCh37 Chromosome 17, 48267742: 48267742
13 COL1A1 NM_000088.3(COL1A1): c.2418delT (p.Gly809Alafs) deletion Likely pathogenic rs193922148 GRCh37 Chromosome 17, 48267721: 48267721
14 COL1A1 NM_000088.3(COL1A1): c.2450delC (p.Pro817Leufs) deletion Likely pathogenic rs193922149 GRCh37 Chromosome 17, 48267689: 48267689
15 COL1A1 NM_000088.3(COL1A1): c.2594G> A (p.Arg865His) single nucleotide variant Likely pathogenic rs193922150 GRCh37 Chromosome 17, 48267239: 48267239
16 COL1A1 NM_000088.3(COL1A1): c.2685delT (p.Gly896Alafs) deletion Likely pathogenic rs193922151 GRCh37 Chromosome 17, 48266882: 48266882
17 COL1A1 NM_000088.3(COL1A1): c.2897A> G (p.Gln966Arg) single nucleotide variant Likely pathogenic rs193922152 GRCh37 Chromosome 17, 48266569: 48266569
18 COL1A1 NM_000088.3(COL1A1): c.2932C> T (p.Pro978Ser) single nucleotide variant Likely pathogenic rs193922153 GRCh37 Chromosome 17, 48266534: 48266534
19 COL1A1 NM_000088.3(COL1A1): c.299_300delAG (p.Glu100Valfs) deletion Likely pathogenic rs193922154 GRCh37 Chromosome 17, 48276950: 48276951
20 COL1A1 NM_000088.3(COL1A1): c.3076C> T (p.Arg1026Ter) single nucleotide variant Pathogenic rs72653173 GRCh37 Chromosome 17, 48266126: 48266126
21 COL1A1 NM_000088.3(COL1A1): c.370-2A> G single nucleotide variant Likely pathogenic rs193922155 GRCh37 Chromosome 17, 48276690: 48276690
22 COL1A1 NM_000088.3(COL1A1): c.517G> T (p.Gly173Ter) single nucleotide variant Likely pathogenic rs193922157 GRCh37 Chromosome 17, 48275820: 48275820
23 COL1A1 NM_000088.3(COL1A1): c.579delT (p.Gly194Valfs) deletion Pathogenic/Likely pathogenic rs72667023 GRCh37 Chromosome 17, 48275531: 48275531
24 COL1A1 NM_000088.3(COL1A1): c.751-2A> G single nucleotide variant Likely pathogenic rs193922158 GRCh37 Chromosome 17, 48274426: 48274426
25 COL1A1 NM_000088.3(COL1A1): c.805G> A (p.Gly269Ser) single nucleotide variant Likely pathogenic rs72645328 GRCh37 Chromosome 17, 48274031: 48274031
26 COL1A2 NM_000089.3(COL1A2): c.1148C> A (p.Pro383His) single nucleotide variant Likely pathogenic rs193922159 GRCh37 Chromosome 7, 94039790: 94039790
27 COL1A2 NM_000089.3(COL1A2): c.1873G> A (p.Gly625Ser) single nucleotide variant Likely pathogenic rs193922162 GRCh37 Chromosome 7, 94047045: 94047045
28 COL1A2 NM_000089.3(COL1A2): c.1991G> A (p.Gly664Asp) single nucleotide variant Likely pathogenic rs72658154 GRCh37 Chromosome 7, 94047830: 94047830
29 COL1A2 NM_000089.3(COL1A2): c.2827G> A (p.Gly943Arg) single nucleotide variant Likely pathogenic rs193922165 GRCh37 Chromosome 7, 94054967: 94054967
30 COL1A2 NM_000089.3(COL1A2): c.3106-2delA deletion Likely pathogenic rs193922166 GRCh37 Chromosome 7, 94056318: 94056318
31 COL1A2 NM_000089.3(COL1A2): c.3284delC (p.Pro1095Leufs) deletion Likely pathogenic rs193922167 GRCh37 Chromosome 7, 94056955: 94056955
32 COL1A2 NM_000089.3(COL1A2): c.3355G> C (p.Ala1119Pro) single nucleotide variant Likely pathogenic rs193922168 GRCh37 Chromosome 7, 94057026: 94057026
33 COL1A2 NM_000089.3(COL1A2): c.677G> A (p.Gly226Asp) single nucleotide variant Likely pathogenic rs193922173 GRCh37 Chromosome 7, 94037532: 94037532
34 COL1A2 NM_000089.3(COL1A2): c.838G> A (p.Gly280Ser) single nucleotide variant Pathogenic rs72656387 GRCh37 Chromosome 7, 94038679: 94038679
35 COL1A2 NM_000089.3(COL1A2): c.848_850delGTG (p.Gly283del) deletion Likely pathogenic rs193922175 GRCh37 Chromosome 7, 94038689: 94038691

Expression for Osteogenesis Imperfecta

Search GEO for disease gene expression data for Osteogenesis Imperfecta.

Pathways for Osteogenesis Imperfecta

GO Terms for Osteogenesis Imperfecta

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

id Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.9 COL1A1 COL1A2 CREB3L1 CRTAP FKBP10 P3H1
2 collagen trimer GO:0005581 9.67 CD36 COL1A1 COL1A2 SERPINH1
3 proteinaceous extracellular matrix GO:0005578 9.56 BMP1 COL1A1 COL1A2 CRTAP DSPP P3H1
4 platelet alpha granule membrane GO:0031092 9.46 CD36 SPARC
5 macromolecular complex GO:0032991 9.43 CRTAP P3H1 PPIB
6 collagen type I trimer GO:0005584 9.4 COL1A1 COL1A2
7 endoplasmic reticulum lumen GO:0005788 9.28 BGLAP COL1A1 COL1A2 CRTAP FKBP10 P3H1
8 extracellular region GO:0005576 10.09 BGLAP BMP1 COL1A1 COL1A2 DSPP P3H1
9 extracellular space GO:0005615 10.02 BGLAP BMP1 CD36 COL1A1 COL1A2 CRTAP

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

(show all 14)
id Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.76 COL1A1 COL1A2 DSPP SPARC
2 osteoblast differentiation GO:0001649 9.67 BGLAP COL1A1 CREB3L1 SP7
3 skeletal system development GO:0001501 9.65 BGLAP BMP1 COL1A1 COL1A2 DSPP
4 collagen fibril organization GO:0030199 9.58 COL1A1 COL1A2 SERPINH1
5 regulation of bone mineralization GO:0030500 9.54 BGLAP IFITM5
6 negative regulation of cell-substrate adhesion GO:0010812 9.52 COL1A1 WNT1
7 protein heterotrimerization GO:0070208 9.51 COL1A1 COL1A2
8 response to gravity GO:0009629 9.49 BGLAP SPARC
9 skin morphogenesis GO:0043589 9.48 COL1A1 COL1A2
10 chaperone-mediated protein folding GO:0061077 9.46 CRTAP FKBP10 P3H1 PPIB
11 collagen biosynthetic process GO:0032964 9.43 COL1A1 SERPINH1
12 ossification GO:0001503 9.35 BGLAP BMP1 COL1A1 DSPP SPARC
13 negative regulation of post-translational protein modification GO:1901874 9.32 CRTAP P3H1
14 bone development GO:0060348 9.02 BGLAP P3H1 PPIB SPARC WNT1

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

id Name GO ID Score Top Affiliating Genes
1 L-ascorbic acid binding GO:0031418 9.26 P3H1 PLOD2
2 platelet-derived growth factor binding GO:0048407 9.16 COL1A1 COL1A2
3 extracellular matrix structural constituent GO:0005201 9.13 COL1A1 COL1A2 DSPP
4 collagen binding GO:0005518 9.02 DSPP P3H1 PPIB SERPINH1 SPARC

Sources for Osteogenesis Imperfecta

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16 ExPASy
18 FMA
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