OI
MCID: OST005
MIFTS: 69

Osteogenesis Imperfecta (OI) malady

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

Aliases & Classifications for Osteogenesis Imperfecta

Aliases & Descriptions for Osteogenesis Imperfecta:

Name: Osteogenesis Imperfecta 12 71 50 24 25 56 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
Osteogenesis Imperfecta Type 29
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:



External Ids:

Disease Ontology 12 DOID:12347
ICD10 33 Q78.0
ICD9CM 35 756.51
MeSH 42 D010013
Orphanet 56 ORPHA666
MESH via Orphanet 43 D010013
ICD10 via Orphanet 34 Q78.0
UMLS via Orphanet 70 C0029434

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 iii and osteogenesis imperfecta, type ii, and has symptoms including macrocephaly, pectus excavatum and genu valgum. 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 cardiovascular system

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 : 71 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 212)
id Related Disease Score Top Affiliating Genes
1 osteogenesis imperfecta, type iii 34.3 COL1A1 COL1A2
2 osteogenesis imperfecta, type ii 32.7 CD36 COL1A1 COL1A2 CRTAP DSPP FKBP10
3 osteogenesis imperfecta, type i 12.7
4 osteogenesis imperfecta, type vi 12.6
5 osteogenesis imperfecta, type iv 12.6
6 osteogenesis imperfecta, type vii 12.6
7 osteogenesis imperfecta, type v 12.6
8 osteogenesis imperfecta, type viii 12.6
9 osteogenesis imperfecta, type ix 12.5
10 osteogenesis imperfecta, type xi 12.5
11 osteogenesis imperfecta, type xiv 12.5
12 osteogenesis imperfecta, type xv 12.5
13 osteogenesis imperfecta, type x 12.5
14 osteogenesis imperfecta, type xii 12.5
15 osteogenesis imperfecta, type xiii 12.5
16 osteogenesis imperfecta, type xvi 12.4
17 osteogenesis imperfecta, type xvii 12.4
18 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures 12.2
19 high bone mass osteogenesis imperfecta 12.1
20 perinatally lethal osteogenesis imperfecta 12.1
21 progressively deforming osteogenesis imperfecta 12.1
22 col1a1/2-related osteogenesis imperfecta 12.1
23 osteogenesis imperfecta congenita, microcephaly, and cataracts 12.1
24 bruck syndrome 12.0
25 wnt1-related osteogenesis imperfecta 12.0
26 osteogenesis imperfecta levin type 12.0
27 common variable osteogenesis imperfecta with normal sclerae 12.0
28 sparc-related osteogenesis imperfecta 11.9
29 tmem38b-related osteogenesis imperfecta 11.9
30 classic non-deforming osteogenesis imperfecta with blue sclerae 11.9
31 dentinogenesis imperfecta 11.9
32 crtap-related osteogenesis 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 dentinogenesis imperfecta, shields type ii 11.7
44 osteoporosis-pseudoglioma syndrome 11.6
45 bruck syndrome 2 11.5
46 cole-carpenter syndrome 11.4
47 gnathodiaphyseal dysplasia 11.2
48 bone fracture 10.9
49 connective tissue disease 10.9
50 cole-carpenter syndrome 1 10.9

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 54)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 56 32 Very frequent (99-80%) HP:0000256
2 pectus excavatum 56 32 Occasional (29-5%) HP:0000767
3 genu valgum 56 32 Frequent (79-30%) HP:0002857
4 osteopenia 56 32 Frequent (79-30%) HP:0000938
5 hyperhidrosis 56 32 Frequent (79-30%) HP:0000975
6 gait disturbance 56 32 Very frequent (99-80%) HP:0001288
7 scoliosis 56 32 Frequent (79-30%) HP:0002650
8 kyphosis 56 32 Occasional (29-5%) HP:0002808
9 inguinal hernia 56 32 Occasional (29-5%) HP:0000023
10 hearing impairment 56 32 Occasional (29-5%) HP:0000365
11 corneal opacity 56 32 Frequent (79-30%) HP:0007957
12 carious teeth 56 32 Very frequent (99-80%) HP:0000670
13 pectus carinatum 56 32 Very frequent (99-80%) HP:0000768
14 umbilical hernia 56 32 Occasional (29-5%) HP:0001537
15 abnormal cortical bone morphology 56 32 Frequent (79-30%) HP:0003103
16 visual impairment 56 32 Frequent (79-30%) HP:0000505
17 short stature 56 32 Occasional (29-5%) HP:0004322
18 osteoporosis 56 32 Frequent (79-30%) HP:0000939
19 brachycephaly 56 32 Very frequent (99-80%) HP:0000248
20 micrognathia 56 32 Very frequent (99-80%) HP:0000347
21 abnormality of the metaphyses 56 32 Very frequent (99-80%) HP:0000944
22 dentinogenesis imperfecta 56 32 Very frequent (99-80%) HP:0000703
23 narrow chest 56 32 Frequent (79-30%) HP:0000774
24 micromelia 56 32 Occasional (29-5%) HP:0002983
25 joint hyperflexibility 56 32 Frequent (79-30%) HP:0005692
26 wormian bones 56 32 Occasional (29-5%) HP:0002645
27 prominent occiput 56 32 Very frequent (99-80%) HP:0000269
28 diaphyseal thickening 56 32 Very frequent (99-80%) HP:0005019
29 thrombocytopenia 56 32 Occasional (29-5%) HP:0001873
30 thin ribs 56 32 Very frequent (99-80%) HP:0000883
31 intrauterine growth retardation 56 32 Very frequent (99-80%) HP:0001511
32 abnormality of the endocardium 56 32 Occasional (29-5%) HP:0004306
33 glaucoma 56 32 Frequent (79-30%) HP:0000501
34 visceral angiomatosis 56 32 Occasional (29-5%) HP:0100761
35 protrusio acetabuli 56 32 Frequent (79-30%) HP:0003179
36 abnormality of dental enamel 56 32 Very frequent (99-80%) HP:0000682
37 recurrent fractures 56 32 Occasional (29-5%) HP:0002757
38 convex nasal ridge 56 32 Very frequent (99-80%) HP:0000444
39 large fontanelles 56 32 Frequent (79-30%) HP:0000239
40 triangular face 56 32 Frequent (79-30%) HP:0000325
41 blue sclerae 56 32 Very frequent (99-80%) HP:0000592
42 abnormality of dental color 56 32 Very frequent (99-80%) HP:0011073
43 decreased skull ossification 56 32 Very frequent (99-80%) HP:0004331
44 abnormality of the tibia 56 32 Very frequent (99-80%) HP:0002992
45 femoral bowing 56 32 Frequent (79-30%) HP:0002980
46 slender long bone 56 32 Frequent (79-30%) HP:0003100
47 biconcave vertebral bodies 56 32 Frequent (79-30%) HP:0004586
48 bowing of the long bones 56 Frequent (79-30%)
49 abnormality of the teeth 56 Very frequent (99-80%)
50 malformation of the heart and great vessels 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 10.1 SPARC BMP1 CD36 COL1A1 COL1A2 CRTAP
2 cardiovascular system MP:0005385 10.06 BMP1 CD36 COL1A1 COL1A2 FKBP10 PEPD
3 craniofacial MP:0005382 10.02 BMP1 COL1A1 FGFR3 FKBP10 IFITM5 PPIB
4 limbs/digits/tail MP:0005371 10 SPARC BMP1 COL1A1 COL1A2 FGFR3 FKBP10
5 mortality/aging MP:0010768 9.97 BMP1 CD36 COL1A1 COL1A2 FGFR3 FKBP10
6 muscle MP:0005369 9.56 BMP1 CD36 COL1A1 COL1A2 P3H1 PEPD
7 skeleton MP:0005390 9.5 BMP1 CD36 COL1A1 COL1A2 CRTAP FGFR3

Drugs & Therapeutics for Osteogenesis Imperfecta

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

(show all 49)
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 Bone Density Conservation Agents Phase 4,Phase 3,Phase 2
7 Ergocalciferols Phase 4
8 Micronutrients Phase 4
9 Trace Elements Phase 4
10 vitamin d Phase 4,Phase 2
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 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
22 Calcium, Dietary Phase 3,Phase 2
23 Risedronate Sodium Phase 3 115436-72-1
24 Antibodies Phase 2,Phase 1
25 Immunoglobulins Phase 2,Phase 1
26
Busulfan Approved, Investigational Phase 1 55-98-1 2478
27
Cyclophosphamide Approved, Investigational Phase 1 50-18-0, 6055-19-2 2907
28
Cyclosporine Approved, Investigational, Vet_approved Phase 1 79217-60-0, 59865-13-3 5284373 6435893
29
Miconazole Approved, Investigational, Vet_approved Phase 1 22916-47-8 4189
30 Alkylating Agents Phase 1
31 Antifungal Agents Phase 1
32 Anti-Infective Agents Phase 1
33 Antineoplastic Agents, Alkylating Phase 1
34 Antirheumatic Agents Phase 1
35 Calcineurin Inhibitors Phase 1
36 Dermatologic Agents Phase 1
37 Immunosuppressive Agents Phase 1
38 Antibodies, Monoclonal Phase 1
39
Menthol Approved 2216-51-5 16666
40 Antidepressive Agents
41 Antimanic Agents
42 Central Nervous System Depressants
43 Lithium carbonate 554-13-2
44 Psychotropic Drugs
45 Tranquilizing Agents
46 Anabolic Agents
47 Hydroxycholecalciferols
48 Citrate Nutraceutical
49
Citric Acid Nutraceutical, Vet_approved 77-92-9 311

Interventional clinical trials:

(show all 37)
id Name Status NCT ID Phase
1 Study of Teriparatide (FORTEO) to Treat Adults With Osteogenesis Imperfecta Completed NCT00131469 Phase 4
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
4 Bisphosphonate Therapy for Osteogenesis Imperfecta Completed NCT00159419 Phase 4
5 Growth Hormone Therapy in Osteogenesis Imperfecta Completed NCT00001305 Phase 3
6 Safety and Efficacy of Risedronate in the Treatment of Osteogenesis Imperfecta in Children Completed NCT00106028 Phase 3
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
8 Pamidronate to Treat Osteogenesis Imperfecta in Children Completed NCT00005901 Phase 3
9 Multicenter,Single-arm Study to Evaluate Efficacy, Safety, & Pharmacokinetics of Denosumab in Children w/ OI Recruiting NCT02352753 Phase 3
10 Bisphosphonate Treatment of Osteogenesis Imperfecta Completed NCT00063479 Phase 2
11 Safety, Pharmacokinetics and Pharmacodynamics of BPS804 in Osteogenesis Imperfecta Completed NCT01417091 Phase 2
12 Zoledronic Acid in Children (1 -17 Years) With Severe Osteogenesis Imperfecta Completed NCT00131118 Phase 2
13 Translational Therapy in Patients With Osteogenesis Imperfecta - A Pilot Trial on Treatment With the Rankl-Antibody Denosumab Completed NCT01799798 Phase 2
14 Efficacy and Safety of Neridronate (Nerixia®)to Treat Osteoporosis in Patients With TM and TI Completed NCT01140321 Phase 2
15 The Effect of Treatment With Teriparatide and Zoledronic Acid in Patients With Osteogenesis Imperfecta Recruiting NCT01679080 Phase 2
16 A Study in Adult Patients With Type I, III or IV Osteogenesis Imperfecta Treated With BPS804 Recruiting NCT03118570 Phase 2
17 Repeated Infusions of Mesenchymal Stromal Cells in Children With Osteogenesis Imperfecta Completed NCT01061099 Phase 1
18 Treatment of Severe Osteogenesis Imperfecta by Allogeneic Bone Marrow Transplantation Completed NCT00705120 Phase 1
19 Stromal Therapy of Osteodysplasia After Allogeneic Bone Marrow Transplantation Completed NCT00186914 Phase 1
20 Mesenchymal Stem Cell Based Therapy for the Treatment of Osteogenesis Imperfecta Active, not recruiting NCT02172885 Phase 1
21 Safety of Fresolimumab in the Treatment of Osteogenesis Imperfecta Not yet recruiting NCT03064074 Phase 1
22 Marrow Mesenchymal Cell Therapy for Osteogenesis Imperfecta: A Pilot Study Completed NCT00187018
23 Osteogenesis Imperfecta (OI) Quality of Life Survey Pilot Project 2 Completed NCT02793063
24 Whole Body Vibration Training in Children With Osteogenesis Imperfecta and Limited Mobility Completed NCT03029312
25 The Influence of Bisphosphonates in the Oral Cavity in Children Completed NCT00402064
26 Prevention of Post Operative Bone Loss in Children Completed NCT00655681
27 Trial of Lithium Carbonate for Treatment of Osteoporosis-pseudoglioma Syndrome Completed NCT01108068
28 Evaluation and Intervention for the Effects of Osteogenesis Imperfecta Recruiting NCT00001594
29 BBD Longitudinal Study of Osteogenesis Imperfecta Recruiting NCT02432625
30 Preventive Fixation of Lower Limbs in Osteogenesis Imperfecta (Brittle Bone Disease) With the Highlight of the Fassier-Duval Recruiting NCT02868294
31 Urinary Biomarkers of OI Pathobiology Recruiting NCT02531087
32 Dental Malocclusion and Craniofacial Development in OI Recruiting NCT02934451
33 Development of a Non-invasive Assessment of Human Bone Quality Using Spatially Offset Raman Spectroscopy Enrolling by invitation NCT02814591
34 Pregnancy in Osteogenesis Imperfecta (OI) Registry Not yet recruiting NCT03072303
35 Diagnosis of Osteogenesis Imperfecta in Children Not yet recruiting NCT03169192
36 Effects of a Physical Rehabilitation Program Using the Nintendo Wii on Children With Osteogenesis Imperfecta (OI) Terminated NCT02542540
37 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, Breast

Publications for Osteogenesis Imperfecta

Articles related to Osteogenesis Imperfecta:

(show top 50) (show all 1028)
id Title Authors Year
1
Novel missense loss-of-function mutations of WNT1 in an autosomal recessive Osteogenesis imperfecta patient. ( 28528193 )
2017
2
The effect of whole body vibration training on bone and muscle function in children with osteogenesis imperfecta. ( 28472303 )
2017
3
Letter to the Editor: Therapies for Osteogenesis Imperfecta. ( 28527487 )
2017
4
WHOLE-BODY VIBRATION EXERCISE IMPROVES FUNCTIONAL PARAMETERS IN PATIENTS WITH OSTEOGENESIS IMPERFECTA: A SYSTEMATIC REVIEW WITH A SUITABLE APPROACH. ( 28480432 )
2017
5
Managing the patient with osteogenesis imperfecta: a multidisciplinary approach. ( 28435282 )
2017
6
Osteogenesis imperfecta type 3 in South Africa: Causative mutations in FKBP10. ( 28492130 )
2017
7
Developmental charts for children with osteogenesis imperfecta, type I (body height, body weight and BMI). ( 28058531 )
2017
8
The Spine in Patients With Osteogenesis Imperfecta. ( 28009707 )
2017
9
Clinical application of quantitative computed tomography in osteogenesis imperfecta suspected cat. ( 28057908 )
2017
10
Gene expression profiling of bone marrow mesenchymal stem cells from Osteogenesis Imperfecta patients during osteoblast differentiation. ( 28396251 )
2017
11
SURGICAL MANAGEMENT OF RETINAL DETACHMENT IN OSTEOGENESIS IMPERFECTA: CASE REPORT AND REVIEW OF THE LITERATURE. ( 28085759 )
2017
12
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
13
Combination sclerostin antibody and zoledronic acid treatment outperforms either treatment alone in a mouse model of osteogenesis imperfecta. ( 28461254 )
2017
14
Femoral and Lumbar Fractures During Rehabilitation for a Traumatic Spinal Cord Injury in Osteogenesis Imperfecta: A Case Presentation. ( 28483687 )
2017
15
The chaperone activity of 4PBA ameliorates the skeletal phenotype of Chihuahua, a zebrafish model for dominant osteogenesis imperfecta. ( 28475764 )
2017
16
[Corrigendum] Clinical characteristics and the identification of novel mutations of COL1A1 and COL1A2 in 61A Chinese patients with osteogenesis imperfecta. ( 28035422 )
2017
17
Static postural control in youth with osteogenesis imperfecta type I. ( 28433416 )
2017
18
Compound heterozygous mutations in COL1A1 associated with an atypical form of type I osteogenesis imperfecta. ( 28436160 )
2017
19
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
20
Molecular diagnosis in children with fractures but no extraskeletal signs of osteogenesis imperfecta. ( 28378289 )
2017
21
Muscle Function in Osteogenesis Imperfecta Type IV. ( 28474170 )
2017
22
Progressive Bilateral Vertebral Artery Dissection in a Case of Osteogenesis Imperfecta. ( 28089253 )
2017
23
Next-Generation Sequencing Reveals One Novel Missense Mutation in COL1A2 Gene in an Iranian Family with Osteogenesis imperfecta ( 28431466 )
2017
24
Mutations in COL1A1 and COL1A2 and dental aberrations in children and adolescents with osteogenesis imperfecta - A retrospective cohort study. ( 28498836 )
2017
25
Targeted exome sequencing identifies novel compound heterozygous mutations in P3H1 in a fetus with osteogenesis imperfecta type VIII. ( 27864101 )
2017
26
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
27
Responsiveness to pamidronate treatment is not related to the genotype of type I collagen in patients with osteogenesis imperfecta. ( 28528406 )
2017
28
Rare co-occurrence of osteogenesis imperfecta type I and autosomal dominant polycystic kidney disease. ( 27059743 )
2016
29
Dental panoramic indices and fractal dimension measurements in osteogenesis imperfecta children under pamidronate treatment. ( 26954289 )
2016
30
Diagnostic conundrums in antenatal presentation of a skeletal dysplasia with description of a heterozygous C-propeptide mutation in COL1A1 associated with a severe presentation of osteogenesis imperfecta. ( 27549894 )
2016
31
DNA sequence analysis in 598 individuals with a clinical diagnosis of osteogenesis imperfecta: diagnostic yield and mutation spectrum. ( 27509835 )
2016
32
Bone Material Properties in Osteogenesis Imperfecta. ( 26987995 )
2016
33
Pigment epithelium-derived factor (PEDF) normalizes matrix defects in iPSCs derived from Osteogenesis imperfecta Type VI. ( 27579219 )
2016
34
[Analysis of COL1A1 gene mutation in an ethnic Han Chinese family from Henan affected with osteogenesis imperfecta]. ( 27577215 )
2016
35
Craniofacial and Dental Defects in the Col1a1Jrt/+ Mouse Model of Osteogenesis Imperfecta. ( 26951553 )
2016
36
Urinary Cross-linked N-terminal Telopeptide of Type I Collagen Levels of Infants with Osteogenesis Imperfecta and Healthy Infants. ( 28003667 )
2016
37
Scoliosis in osteogenesis imperfecta caused by COL1A1/COL1A2 mutations - genotype-phenotype correlations and effect of bisphosphonate treatment. ( 26927310 )
2016
38
Bilateral papilledema in a child with osteogenesis imperfecta. ( 27833926 )
2016
39
Mutants of collagen-specific molecular chaperone Hsp47 causing osteogenesis imperfecta are structurally unstable with weak binding affinity to collagen. ( 26692483 )
2016
40
Osteogenesis imperfecta: Level of independence and of social, recreational and sports participation among adolescents and youth. ( 27164338 )
2016
41
Ultrasonographic early diagnosis of osteogenesis imperfecta type I: implications for pre and post-natal therapy. ( 27052443 )
2016
42
Decreasing maternal myostatin programs adult offspring bone strength in a mouse model of osteogenesis imperfecta. ( 27821779 )
2016
43
Osteogenesis Imperfecta Diagnosed from Mandibular and Lower Limb Fractures: A Case Report. ( 27162570 )
2016
44
Worsening of Callus Hyperplasia after Bisphosphonate Treatment in Type V Osteogenesis Imperfecta. ( 27029692 )
2016
45
Premature Atherosclerosis and Drug Eluting Stent Restenosis in an Adult with Osteogenesis Imperfecta. ( 28031688 )
2016
46
Decreased fracture rate, pharmacogenetics and BMD response in 79 Swedish children with osteogenesis imperfecta types I, III and IV treated with Pamidronate. ( 26957348 )
2016
47
Children with severe Osteogenesis imperfecta and short stature present on average with normal IGF-I and IGFBP-3 levels. ( 27089405 )
2016
48
Health-related quality of life and a cost-utility simulation of adults in the UK with osteogenesis imperfecta, X-linked hypophosphatemia and fibrous dysplasia. ( 27894323 )
2016
49
[Analysis of gross deletions of COL1A1/2 genes in Chinese families affected with osteogenesis imperfecta]. ( 27454992 )
2016
50
Safety and efficacy of denosumab in children with osteogenesis imperfecta - a first prospective trial. ( 26944820 )
2016

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 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 9.96 COL1A1 COL1A2 CRTAP FGFR3 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 collagen type I trimer GO:0005584 9.4 COL1A1 COL1A2
6 macromolecular complex GO:0032991 9.33 CRTAP P3H1 PPIB
7 endoplasmic reticulum lumen GO:0005788 9.28 BGLAP COL1A1 COL1A2 CRTAP FKBP10 P3H1
8 extracellular region GO:0005576 10.13 BGLAP BMP1 COL1A1 COL1A2 DSPP FGFR3
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 16)
id Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.78 COL1A1 COL1A2 DSPP SPARC
2 osteoblast differentiation GO:0001649 9.72 BGLAP COL1A1 SP7
3 collagen catabolic process GO:0030574 9.63 COL1A1 COL1A2 PEPD
4 collagen fibril organization GO:0030199 9.58 COL1A1 COL1A2 SERPINH1
5 regulation of bone mineralization GO:0030500 9.56 BGLAP IFITM5
6 chaperone-mediated protein folding GO:0061077 9.56 CRTAP FKBP10 P3H1 PPIB
7 ossification GO:0001503 9.55 BGLAP BMP1 COL1A1 DSPP SPARC
8 negative regulation of cell-substrate adhesion GO:0010812 9.54 COL1A1 WNT1
9 bone mineralization GO:0030282 9.54 BGLAP FGFR3 IFITM5
10 protein heterotrimerization GO:0070208 9.52 COL1A1 COL1A2
11 skin morphogenesis GO:0043589 9.51 COL1A1 COL1A2
12 response to gravity GO:0009629 9.49 BGLAP SPARC
13 collagen biosynthetic process GO:0032964 9.43 COL1A1 SERPINH1
14 skeletal system development GO:0001501 9.43 BGLAP BMP1 COL1A1 COL1A2 DSPP FGFR3
15 negative regulation of post-translational protein modification GO:1901874 9.32 CRTAP P3H1
16 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
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33 ICD10
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37 KEGG
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48 NDF-RT
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59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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