OI
MCID: BRT054
MIFTS: 73

Brittle Bone Disorder (OI)

Categories: Bone diseases, Fetal diseases, Rare diseases
Data Licensing
For inquiries, contact:

Aliases & Classifications for Brittle Bone Disorder

MalaCards integrated aliases for Brittle Bone Disorder:

Name: Brittle Bone Disorder 57 71
Osteogenesis Imperfecta 11 19 42 58 75 28 53 5 41 14 38 71 31 33
Brittle Bone Disease 11 19 42 58 75 33
Fragilitas Ossium 11 19 42 33
Osteopsathyrosis 11 19 33
Lobstein Disease 19 58 75
Oi 19 42 58
Lobstein's Disease 5 71
Vrolik Disease 19 42
Osteogenesis Imperfecta, Recessive Perinatal Lethal 71
Osteogenesis Imperfecta, Dominant Perinatal Lethal 71
White Blue Sclera - Fragility of Bone - Deafness 33
Blue Sclera with Fragility of Bone and Deafness 33
Oi - [osteogenesis Imperfecta] 33
Porak and Durante Disease 19
Brittle Bone Syndrome 33
Osteitis Fragilitans 33
Lobstein's Syndrome 11
Glass Bone Disease 58
Vrolik's Disease 11
Ossium Fragility 33
Bony Fragility 33

Characteristics:


Inheritance:

Osteogenesis Imperfecta: Autosomal dominant,Autosomal recessive,X-linked recessive 58

Prevelance:

Osteogenesis Imperfecta: 1-5/10000 (Worldwide) 1-9/100000 (France, Ireland, United States, Sweden) 1-9/1000000 (Latin America, China) 58

Age Of Onset:

Osteogenesis Imperfecta: All ages 58

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Brittle Bone Disorder

MedlinePlus Genetics: 42 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 (fracture) 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.There are at least 19 recognized forms of osteogenesis imperfecta, designated type I through type XIX. Several types are distinguished by their signs and symptoms, although their characteristic features overlap. Increasingly, genetic causes are used to define rarer forms of osteogenesis imperfecta. Type I (also known as classic non-deforming osteogenesis imperfecta with blue sclerae) is the mildest form of osteogenesis imperfecta. Type II (also known as perinatally lethal osteogenesis imperfecta) is the most severe. Other types of this condition, including types III (progressively deforming osteogenesis imperfecta) and IV (common variable osteogenesis imperfecta with normal sclerae), have signs and symptoms that fall somewhere between these two extremes.The milder forms of osteogenesis imperfecta, including type I, are characterized by bone fractures during childhood and adolescence that often result from minor trauma, such as falling while learning to walk. Fractures occur less frequently in adulthood. People with mild forms of the condition typically have a blue or grey tint to the part of the eye that is usually white (the sclera), and about half develop hearing loss in adulthood. Unlike more severely affected individuals, people with type I are usually of normal or near normal height.Other types of osteogenesis imperfecta are more severe, causing frequent bone fractures that are present at birth and result from little or no trauma. Additional features of these types can include blue sclerae of the eyes, short stature, curvature of the spine (scoliosis), joint deformities (contractures), hearing loss, respiratory problems, and a disorder of tooth development called dentinogenesis imperfecta. Mobility can be reduced in affected individuals, and some may use a walker or wheelchair. The most severe forms of osteogenesis imperfecta, particularly type II, can include an abnormally small, fragile rib cage and underdeveloped lungs. Infants with these abnormalities may have life-threatening problems with breathing and can die shortly after birth.

MalaCards based summary: Brittle Bone Disorder, also known as osteogenesis imperfecta, is related to osteogenesis imperfecta, type i and osteogenesis imperfecta, type ii, and has symptoms including back pain, sciatica and muscle cramp. An important gene associated with Brittle Bone Disorder is COL1A2 (Collagen Type I Alpha 2 Chain), and among its related pathways/superpathways are PI3K-Akt signaling pathway and Collagen chain trimerization. The drugs Alendronic acid and Teriparatide have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and eye, and related phenotypes are carious teeth and pectus carinatum

MedlinePlus: 41 Osteogenesis imperfecta (OI) is a genetic disorder in which bones fracture (break) easily. Sometimes the fractures happen 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. There is no specific test for 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

GARD: 19 Osteogenesis imperfecta (OI) is a group of genetic disorders that mainly affect the development of the bones. People with this condition have bones that break easily, often from little or no trauma. However, the severity is different from person to person. 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 may 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 pattern. Diagnosis is based on the symptoms, clinical exam, imaging studies, and may be confirmed by the results of genetic testing.

Orphanet: 58 A rare, genetic, primary bone dysplasias characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures. The clinical severity is heterogeneous.

Disease Ontology: 11 An osteochondrodysplasia that has material basis in a deficiency in type-I collagen which results in brittle bones and defective connective tissue.

Wikipedia: 75 Osteogenesis imperfecta (IPA: /ˌɒstioʊˈdʒɛnəsɪs ˌɪmpɜːrˈfɛktə/; OI), colloquially known as brittle bone... more...

More information from OMIM: 603828

Related Diseases for Brittle Bone Disorder

Diseases related to Brittle Bone Disorder via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 640)
# Related Disease Score Top Affiliating Genes
1 osteogenesis imperfecta, type i 34.2 TMEM38B SERPINF1 P3H1 IFITM5 FKBP10 CRTAP
2 osteogenesis imperfecta, type ii 34.1 TMEM38B PPIB P3H1 IFITM5 FKBP10 CRTAP
3 osteogenesis imperfecta, type iii 34.1 WNT1 SERPINF1 PPIB PLOD2 P3H1 IFITM5
4 osteogenesis imperfecta, type iv 34.0 WNT1 TMEM38B SERPINF1 PPIB P3H1 IFITM5
5 osteogenesis imperfecta, type vi 33.9 SERPINF1 IFITM5 COL1A2 COL1A1
6 osteogenesis imperfecta, type vii 33.9 PPIB P3H1 IFITM5 CRTAP COL1A1
7 osteogenesis imperfecta, type v 33.8 IFITM5 COL1A2 COL1A1
8 osteogenesis imperfecta, type ix 33.8 SNX22 PPIB P3H1 CRTAP
9 osteogenesis imperfecta, type xiv 33.7 TMEM38B P3H1 FKBP10 CRTAP CREB3L1 COL1A2
10 dentinogenesis imperfecta 33.7 WNT1 TMEM38B SERPINF1 PPIB PLOD2 P3H1
11 osteogenesis imperfecta, type xi 33.7 PLOD2 FKBP10 CRTAP COL1A2 COL1A1
12 osteogenesis imperfecta, type xv 33.7 WNT1 TMEM38B P3H1 LRP5
13 osteogenesis imperfecta, type xix 33.6 P3H1 FKBP10 CRTAP CREB3L1
14 bruck syndrome 33.6 TMEM38B SERPINF1 PPIB PLOD2 P3H1 IFITM5
15 osteogenesis imperfecta, type viii 33.6 P3H1 CRTAP
16 cole-carpenter syndrome 33.2 TMEM38B SERPINF1 PLOD2 P3H1 IFITM5 FKBP10
17 high bone mass osteogenesis imperfecta 33.1 COL1A2 COL1A1
18 ehlers-danlos/osteogenesis imperfecta syndrome 33.1 COL1A2 COL1A1
19 ehlers-danlos syndrome 33.1 PPIB PLOD2 P3H1 FKBP10 DSPP CRTAP
20 connective tissue disease 33.0 PLOD2 DSPP COL3A1 COL2A1 COL1A2 COL1A1
21 bone disease 33.0 LRP5 IBSP COL2A1 COL1A1 BGLAP ALPL
22 osteoporosis, juvenile 32.8 WNT1 TMEM38B P3H1 LRP5 IFITM5 FKBP10
23 coxa vara 32.5 CRTAP COL2A1
24 scoliosis 32.3 PLOD2 FKBP10 COL2A1 COL1A2 COL1A1 BGLAP
25 osteochondrodysplasia 32.3 WNT1 TMEM38B SERPINF1 PPIB PLOD2 P3H1
26 ehlers-danlos syndrome, classic type, 1 32.1 PPIB P3H1 FKBP10 DSPP CRTAP COL3A1
27 osteoporosis 32.1 WNT1 P3H1 LRP5 IFITM5 IBSP CRTAP
28 otosclerosis 31.9 SERPINF1 COL1A2 COL1A1
29 rickets 31.8 IBSP DSPP BGLAP ALPL
30 tooth agenesis 31.6 WNT1 LRP5 DSPP CREB3L1 COL1A2 COL1A1
31 marfan syndrome 31.6 COL3A1 COL2A1 COL1A2 COL1A1
32 osteonecrosis 31.5 LRP5 COL2A1 BGLAP
33 collagen disease 31.5 COL3A1 COL2A1 COL1A2 COL1A1
34 hypermobile ehlers-danlos syndrome 31.4 COL3A1 COL1A1
35 orthostatic intolerance 31.4 COL3A1 COL1A2 COL1A1
36 hyperostosis 31.3 LRP5 COL1A1 ALPL
37 sclerosteosis 31.3 WNT1 LRP5 COL1A1 BGLAP
38 achondroplasia 31.3 COL2A1 COL1A1 BGLAP
39 ankylosis 31.2 IBSP BGLAP ALPL
40 hypophosphatasia 31.1 DSPP BGLAP ALPL
41 hypophosphatemic rickets, x-linked dominant 31.1 IBSP DSPP BGLAP ALPL
42 cleidocranial dysplasia 1 31.0 IBSP DSPP COL2A1 COL1A1 BGLAP ALPL
43 hypophosphatasia, adult 31.0 COL1A2 ALPL
44 stickler syndrome 31.0 COL3A1 COL2A1 COL1A2 COL1A1
45 classic ehlers-danlos syndrome 31.0 COL1A2 COL1A1
46 craniosynostosis 31.0 LRP5 IBSP COL2A1 BGLAP ALPL
47 aortic valve disease 1 31.0 LRP5 IBSP COL3A1 COL1A1 BGLAP
48 caffey disease 30.8 TMEM38B P3H1 IFITM5 FKBP10 CRTAP COL1A2
49 hypermobility syndrome 30.8 COL3A1 COL1A2 COL1A1
50 ehlers-danlos syndrome, arthrochalasia type, 2 30.8 TMEM38B IFITM5 CRTAP COL1A2 COL1A1

Graphical network of the top 20 diseases related to Brittle Bone Disorder:



Diseases related to Brittle Bone Disorder

Symptoms & Phenotypes for Brittle Bone Disorder

Human phenotypes related to Brittle Bone Disorder:

58 30 (show top 50) (show all 115)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 carious teeth 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000670
2 pectus carinatum 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000768
3 brachycephaly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000248
4 prominent occiput 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000269
5 diaphyseal thickening 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0005019
6 intrauterine growth retardation 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001511
7 micrognathia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000347
8 abnormality of tibia morphology 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002992
9 convex nasal ridge 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000444
10 abnormality of dental color 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0011073
11 decreased skull ossification 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0004331
12 thin ribs 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000883
13 mixed hearing impairment 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000410
14 abnormal dental enamel morphology 30 Hallmark (90%) HP:0000682
15 abnormal metaphysis morphology 30 Hallmark (90%) HP:0000944
16 hyperhidrosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0000975
17 osteopenia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000938
18 corneal opacity 58 30 Frequent (33%) Frequent (79-30%)
HP:0007957
19 dental malocclusion 58 30 Frequent (33%) Frequent (79-30%)
HP:0000689
20 abnormal cortical bone morphology 58 30 Frequent (33%) Frequent (79-30%)
HP:0003103
21 visual impairment 58 30 Frequent (33%) Frequent (79-30%)
HP:0000505
22 genu valgum 58 30 Frequent (33%) Frequent (79-30%)
HP:0002857
23 osteoporosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0000939
24 slender long bone 58 30 Frequent (33%) Frequent (79-30%)
HP:0003100
25 glaucoma 58 30 Frequent (33%) Frequent (79-30%)
HP:0000501
26 hypercalciuria 58 30 Frequent (33%) Frequent (79-30%)
HP:0002150
27 joint hyperflexibility 58 30 Frequent (33%) Frequent (79-30%)
HP:0005692
28 large fontanelles 58 30 Frequent (33%) Frequent (79-30%)
HP:0000239
29 narrow chest 58 30 Frequent (33%) Frequent (79-30%)
HP:0000774
30 blue sclerae 58 30 Frequent (33%) Frequent (79-30%)
HP:0000592
31 bone pain 58 30 Frequent (33%) Frequent (79-30%)
HP:0002653
32 dentinogenesis imperfecta 58 30 Frequent (33%) Frequent (79-30%)
HP:0000703
33 femoral bowing 58 30 Frequent (33%) Frequent (79-30%)
HP:0002980
34 biconcave vertebral bodies 58 30 Frequent (33%) Frequent (79-30%)
HP:0004586
35 cutis laxa 58 30 Frequent (33%) Frequent (79-30%)
HP:0000973
36 enlarged vertebral pedicles 58 30 Frequent (33%) Frequent (79-30%)
HP:0004621
37 fractures of the long bones 58 30 Frequent (33%) Frequent (79-30%)
HP:0003084
38 multiple rib fractures 58 30 Frequent (33%) Frequent (79-30%)
HP:0006640
39 progressive hearing impairment 58 30 Frequent (33%) Frequent (79-30%)
HP:0001730
40 vertebral compression fracture 30 Frequent (33%) HP:0002953
41 loss of ambulation 30 Frequent (33%) HP:0002505
42 scoliosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002650
43 dysphagia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002015
44 constipation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002019
45 inguinal hernia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000023
46 umbilical hernia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001537
47 flexion contracture 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001371
48 pectus excavatum 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000767
49 thrombocytopenia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001873
50 nephrolithiasis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000787

Clinical features from OMIM®:

603828 (Updated 08-Dec-2022)

UMLS symptoms related to Brittle Bone Disorder:


back pain; sciatica; muscle cramp

MGI Mouse Phenotypes related to Brittle Bone Disorder:

45 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.36 ALPL BGLAP COL1A1 COL1A2 COL2A1 COL3A1
2 growth/size/body region MP:0005378 10.31 ALPL COL1A1 COL1A2 COL2A1 COL3A1 CREB3L1
3 limbs/digits/tail MP:0005371 10.19 ALPL COL1A1 COL1A2 COL2A1 FKBP10 IBSP
4 cellular MP:0005384 10.18 ALPL BGLAP COL1A1 COL1A2 COL2A1 COL3A1
5 craniofacial MP:0005382 10.1 ALPL COL1A1 COL2A1 DSPP FKBP10 IBSP
6 cardiovascular system MP:0005385 10.06 ALPL COL1A1 COL1A2 COL2A1 COL3A1 FKBP10
7 immune system MP:0005387 10.03 ALPL BGLAP COL1A1 COL1A2 COL2A1 COL3A1
8 adipose tissue MP:0005375 10.02 ALPL BGLAP COL1A1 COL1A2 COL2A1 COL3A1
9 skeleton MP:0005390 9.86 ALPL BGLAP COL1A1 COL1A2 COL2A1 CREB3L1
10 respiratory system MP:0005388 9.7 ALPL COL1A1 COL2A1 COL3A1 DSPP TMEM38B
11 hematopoietic system MP:0005397 9.4 ALPL BGLAP COL1A1 COL1A2 COL3A1 CREB3L1

Drugs & Therapeutics for Brittle Bone Disorder

Drugs for Brittle Bone Disorder (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 53)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Alendronic acid Approved Phase 4 121268-17-5, 66376-36-1 2088
2
Teriparatide Approved, Investigational Phase 4 52232-67-4 16133850 155817470
3
Pamidronic acid Approved Phase 4 40391-99-9 4674
4
Parathyroid hormone Approved, Investigational Phase 4 9002-64-6
5
Risedronic acid Approved, Investigational Phase 4 105462-24-6 5245
6
Cholecalciferol Approved, Nutraceutical, Vet_approved Phase 4 67-97-0, 1406-16-2 5280795 10883523
7
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
8 Vitamins Phase 4
9 Trace Elements Phase 4
10 Calciferol Phase 4
11 Micronutrients Phase 4
12
Vitamin D2 Phase 4 3249
13 Ergocalciferols Phase 4
14 Calcium, Dietary Phase 4
15 calcium channel blockers Phase 4
16
Calcium Nutraceutical Phase 4 7440-70-2 271
17
Denosumab Approved Phase 3 615258-40-7
18 Pharmaceutical Solutions Phase 2, Phase 3
19 Immunoglobulins Phase 2, Phase 3
20 Antibodies, Monoclonal Phase 2, Phase 3
21 Antibodies Phase 2, Phase 3
22
Calcium carbonate Approved, Investigational Phase 2 471-34-1
23
Zoledronic acid Approved Phase 2 118072-93-8 68740
24 Liver Extracts Phase 1, Phase 2
25
Busulfan Approved, Investigational Phase 1 55-98-1 2478
26
Cyclophosphamide Approved, Investigational Phase 1 50-18-0, 6055-19-2 2907
27
Miconazole Approved, Investigational, Vet_approved Phase 1 22916-47-8 4189
28
Clotrimazole Approved, Vet_approved Phase 1 23593-75-1 2812
29 Antirheumatic Agents Phase 1
30 Alkylating Agents Phase 1
31 Antineoplastic Agents, Alkylating Phase 1
32 Anti-Infective Agents Phase 1
33 Calcineurin Inhibitors Phase 1
34 Cyclosporins Phase 1
35 Antifungal Agents Phase 1
36 Immunosuppressive Agents Phase 1
37 Dermatologic Agents Phase 1
38 Immunologic Factors Phase 1
39
Lithium carbonate Approved 554-13-2
40
Sodium citrate Approved, Investigational 68-04-2 23431961
41
Tranexamic acid Approved 1197-18-8 5526
42
Citric acid Approved, Nutraceutical, Vet_approved 77-92-9 311
43
Calcifediol Approved, Nutraceutical 19356-17-3 5283731
44 Psychotropic Drugs
45 Antidepressive Agents
46 Citrate
47 Diphosphonates
48 Anabolic Agents
49 Hydroxycholecalciferols
50 Antifibrinolytic Agents

Interventional clinical trials:

(show top 50) (show all 64)
# Name Status NCT ID Phase Drugs
1 Efficacy and Safety of Alendronate in Chinese Children or Adolescents With Osteogenesis Imperfecta: an Age Stratified Prospective Study Completed NCT02303873 Phase 4 Alendronate
2 Bisphosphonate Therapy for Osteogenesis Imperfecta Completed NCT00159419 Phase 4 Alendronate;Pamidronate
3 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
4 Effect of High-Dose Vitamin D on Bone Density in Osteogenesis Imperfecta Completed NCT01713231 Phase 4
5 Treatment of Osteogenesis Imperfecta With Parathyroid Hormone and Zoledronic Acid Recruiting NCT03735537 Phase 4 Teriparatide Pen Injector;Zoledronic Acid
6 Effects of Bisphosphonates on OI-Related Hearing Loss: A Pilot Study Recruiting NCT04152551 Phase 4 Risedronate Oral Tablet
7 Safety and Efficacy of Risedronate in the Treatment of Osteogenesis Imperfecta in Children Completed NCT00106028 Phase 3 risedronate sodium (Actonel);Placebo
8 A Trial of Pamidronate in Children With Osteogenesis Imperfecta Completed NCT00005901 Phase 3 Pamidronate (Aredia)
9 An International, Multicenter, Open-label, 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
10 Multicenter, Single-arm Open-label Extension Study to Assess Long-term Safety and Efficacy of Current or Prior Treatment With Denosumab in Children/Young Adults With Osteogenesis Imperfecta Completed NCT03638128 Phase 3 Denosumab;Alternative osteoporosis medications
11 Studies of Growth Deficiency and Growth Hormone Treatment in Children With Osteogenesis Imperfecta Types III and IV Completed NCT00001305 Phase 3 Humatrope
12 To Evaluate the Effect of Denosumab in Lumbar Spine Bone Mineral Density (BMD) Z-score at 12 Months, as Assessed by Dual-energy X-ray Absorptiometry (DXA), in Children 2 to 17 Years of Age (at the Time of Screening) on a 3-Month Dosing Regimen With OI Completed NCT02352753 Phase 3 Denosumab
13 An Operationally Seamless, Randomized Phase 2/3 Study Consisting of a Phase 2 Single-Blind, Dose-Evaluation Phase and a Phase 3 Double-Blind, Placebo-Controlled Phase to Assess the Efficacy and Safety of Setrusumab in Subjects With Osteogenesis Imperfecta Recruiting NCT05125809 Phase 2, Phase 3
14 Exploratory, Open Label, Multiple Dose, Phase I/II Trial Evaluating Safety, Efficacy of Intravenous and Intraosseous Infusion of Allogeneic Fetal Mesenchymal Stem In Treatment of Severe Osteogenesis Imperfecta Compared With Historical and Untreated Prospective Controls Unknown status NCT04623606 Phase 1, Phase 2
15 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) Completed NCT03118570 Phase 2 setrusumab;zoledronic acid (optional)
16 Efficacy and Safety of Zoledronic Acid in Children (1 -17 Years) With Severe Osteogenesis Imperfecta Completed NCT00131118 Phase 2 Zoledronic Acid
17 Do Bisphosphonates Alter the Skeletal Response to Mechanical Stimulation in Children With Osteogenesis Imperfecta? Completed NCT03208582 Phase 2 Risedronate Sodium
18 Bisphosphonate Treatment of Osteogenesis Imperfecta Completed NCT00063479 Phase 2 Zoledronic Acid
19 TRANSLATIONAL THERAPY IN PATIENTS WITH OSTEOGENESIS IMPERFECTA - A PILOT TRIAL ON TREATMENT WITH THE RANKL-ANTIBODY DENOSUMAB Completed NCT01799798 Phase 2 Denosumab
20 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
21 An Exploratory, Open Label, Multiple Dose, Multicentre Phase I/II Trial Evaluating Safety and Efficacy of Postnatal or Prenatal and Postnatal Intravenous Administration of Allogeneic Expanded Fetal Mesenchymal Stem Cells for the Treatment of Severe Osteogenesis Imperfecta Compared With a Combination of Historical and Untreated Prospective Controls Active, not recruiting NCT03706482 Phase 1, Phase 2
22 A Phase 1/2 Study to Examine the Safety and Preliminary Efficacy of Mesenchymal Stromal Cells on Linear Growth and Bone Health Parameters in Children With Type 3 Osteogenesis Imperfecta (OI) Not yet recruiting NCT05559801 Phase 1, Phase 2 Bone marrow-derived mesenchymal stromal cells (MSCs)
23 A Phase 2b, Multicenter, Long-term Extension Study of Setrusumab in Adults With Type I, III, or IV Osteogenesis Imperfecta Terminated NCT05312697 Phase 2
24 The Effect of Treatment With Teriparatide and Zoledronic Acid in Patients With Osteogenesis Imperfecta Terminated NCT01679080 Phase 2 Zoledronic acid;Teriparatide
25 A Phase 2, Non-controlled, Open-Label, Exploratory Study of BPS804 Treatment in Adult Patients With Type I, III or IV Osteogenesis Imperfecta Withdrawn NCT03216486 Phase 2 BPS804
26 A Pilot Study to Assess the Safety and Feasibility of Repeated Infusions of Mesenchymal Stromal Cells (MSC) in Children With Osteogenesis Imperfecta Completed NCT01061099 Phase 1
27 Multicenter Study to Evaluate Safety of Fresolimumab in Adults With Moderate-to-severe Osteogenesis Imperfecta Completed NCT03064074 Phase 1 Fresolimumab
28 Treatment of Severe (Types II and III) Osteogenesis Imperfecta by Allogeneic Bone Marrow Transplantation Completed NCT00705120 Phase 1 Cyclophosphamide;Cyclosporin;Busulfan
29 Mesenchymal Stem Cell Based Therapy for the Treatment of Osteogenesis Imperfecta Completed NCT02172885 Phase 1
30 A Phase 1b, Single Ascending Dose, Randomized, Double-blind Study to Evaluate the Safety, Tolerability, and Activity of SAR439459 in Adults With Osteogenesis Imperfecta Recruiting NCT05231668 Phase 1 SAR439459;Placebo
31 An Open-label, Ascending Multiple-dose Study to Evaluate Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of Romosozumab in Children and Adolescents With Osteogenesis Imperfecta Active, not recruiting NCT04545554 Phase 1 Romosozumab
32 Evaluation of the Benefits of Adaptive Physical Activity in Children and Adolescents With Osteogenesis Imperfecta Unknown status NCT04119388
33 Molecular Genetic Study of Suspected Cases of Osteogenesis Imperfecta Attending Assiut University Children Hospital Unknown status NCT03169192 Zoledronic Acid
34 Preventive Fixation of Lower Limbs in Osteogenesis Imperfecta (Brittle Bone Disease) With the Highlight of the Fassier-Duval Unknown status NCT02868294
35 Rare Diseases Clinical Research Network Brittle Bone Disorders Consortium Osteogenesis Imperfecta (OI) Quality of Life Survey Pilot Project 2 Completed NCT02793063
36 Pregnancy in Osteogenesis Imperfecta (OI) Registry Completed NCT03072303
37 Calcium Intake Improvement After Nutritional Intervention in Pediatric Patients With Osteogenesis Imperfecta Completed NCT03841188
38 High Resolution Thermal Imaging to Identify Vertebral Fractures in Children and Young People With Osteogenesis Imperfecta Completed NCT04231916
39 Whole Body Vibration as an Osteogenic Treatment for Children With Osteogenesis Imperfecta With Limited Mobility: A Randomised Controlled Pilot Trial Completed NCT03029312
40 Evaluation and Intervention for Ambulation, Growth, and Basilar Invagination in Osteogenesis Imperfecta Completed NCT00001594
41 Marrow Mesenchymal Cell Therapy for Osteogenesis Imperfecta: A Pilot Study Completed NCT00187018
42 Prevention of Post Operative Bone Loss in Children Completed NCT00655681 pamidronate
43 Experimental Evaluation of Back Braces for the Treatment of Spinal Deformity Produced With 3D Printing Technology Completed NCT04282408
44 NGS Strategy Effectiveness in Molecular Diagnosis Completed NCT03557567
45 Trial of Lithium Carbonate for Treatment of Osteoporosis Pseudoglioma Syndrome Completed NCT01108068 Lithium
46 Non-invasive Blood Pressuring Monitoring in Patients With Osteogenesis Imperfecta: Does Circumferential Cuff Pressure Result in Fractures? Recruiting NCT04169568
47 Registry of Osteogenesis Imperfecta That Collects Clinical, Functional, Genetic, Genealogical, Imaging, Surgical, Quality of Life Data. Data Are Linked to Patients Biological Sample Recruiting NCT04115774 bisphosphonates
48 A Natural History of the Collagen-Related Disorder Osteogenesis Imperfecta and the Genotype-Phenotype Correlation Recruiting NCT03575221
49 Rare Diseases Clinical Research Network Brittle Bone Disease Consortium Longitudinal Study of Osteogenesis Imperfecta Recruiting NCT02432625
50 Use of Clear Aligners for the Treatment of Dental Malocclusion in Individuals With Osteogenesis Imperfecta Types III and IV Recruiting NCT04815564

Search NIH Clinical Center for Brittle Bone Disorder

Inferred drug relations via UMLS 71 / NDF-RT 50 :


Calcitonin
salmon calcitonin

Genetic Tests for Brittle Bone Disorder

Genetic tests related to Brittle Bone Disorder:

# Genetic test Affiliating Genes
1 Osteogenesis Imperfecta 28 COL1A1 COL1A2

Anatomical Context for Brittle Bone Disorder

Organs/tissues related to Brittle Bone Disorder:

MalaCards : Bone, Bone Marrow, Eye, Skin, Brain, Heart, Liver

Publications for Brittle Bone Disorder

Articles related to Brittle Bone Disorder:

(show top 50) (show all 5561)
# Title Authors PMID Year
1
Variable bone fragility associated with an Amish COL1A2 variant and a knock-in mouse model. 53 62 5
19594296 2010
2
Genetic skeletal disorders of the fetus and infant: pathologic and molecular findings in a series of 41 cases. 53 62 5
19637253 2009
3
Mutations in COL1A1 of type I collagen genes in Chinese patients with osteogenesis imperfecta. 53 62 5
19491628 2009
4
Two novel COL1A1 mutations in patients with osteogenesis imperfecta (OI) affect the stability of the collagen type I triple-helix. 53 62 5
18670065 2008
5
A novel COL1A1 nonsense mutation causing osteogenesis imperfecta in a Chinese family. 53 62 5
17392686 2007
6
Osteogenesis imperfecta: clinical, biochemical and molecular findings. 53 62 5
16879195 2006
7
Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV. 53 62 5
16786509 2006
8
Total absence of the alpha2(I) chain of collagen type I causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problems. 53 62 5
16816023 2006
9
Mutational spectrum of type I collagen genes in Korean patients with osteogenesis imperfecta. 53 62 5
16705691 2006
10
[A new mutation in COL1A1 gene in a family with osteogenesis imperfecta]. 53 62 5
16638323 2006
11
[Mutation detection of COL1A1 gene in a pedigree with osteogenesis imperfecta]. 53 62 5
15931785 2005
12
Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients. 53 62 5
15241796 2004
13
Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway. 53 62 5
15077201 2004
14
Genetic and biochemical analyses of Israeli osteogenesis imperfecta patients. 53 62 5
15024745 2004
15
COL1A1 mutation analysis in Lithuanian patients with osteogenesis imperfecta. 53 62 5
12590186 2003
16
Thirty-three novel COL1A1 and COL1A2 mutations in patients with osteogenesis imperfecta types I-IV. 53 62 5
11317364 2001
17
Prenatal diagnosis of a novel COL1A1 mutation in osteogenesis imperfecta type I carried through full term pregnancy. 53 62 5
11113887 2000
18
Tracking COL1A1 RNA in osteogenesis imperfecta. splice-defective transcripts initiate transport from the gene but are retained within the SC35 domain. 53 62 5
10931857 2000
19
Dental manifestations of osteogenesis imperfecta and abnormalities of collagen I metabolism. 53 62 5
9594376 1998
20
Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: identification of common sequences of null-allele mutations. 53 62 5
9443882 1998
21
Homozygosity by descent for a COL1A2 mutation in two sibs with severe osteogenesis imperfecta and mild clinical expression in the heterozygotes. 53 62 5
9099837 1997
22
Two new recurrent nucleotide mutations in the COL1A1 gene in four patients with osteogenesis imperfecta: about one-fifth are recurrent. 53 62 5
9067755 1997
23
Nuclear retention of COL1A1 messenger RNA identifies null alleles causing mild osteogenesis imperfecta. 53 62 5
8613526 1996
24
Substitution of arginine for glycine at position 154 of the alpha 1 chain of type I collagen in a variant of osteogenesis imperfecta: comparison to previous cases with the same mutation. 53 62 5
8669434 1996
25
Recurrence of osteogenesis imperfecta because of paternal mosaicism: Gly862-->Ser substitution in a type I collagen gene (COL1A1). 53 62 5
7789952 1995
26
A Gly238Ser substitution in the alpha 2 chain of type I collagen results in osteogenesis imperfecta type III. 53 62 5
7860070 1995
27
Defective splicing of mRNA from one COL1A1 allele of type I collagen in nondeforming (type I) osteogenesis imperfecta. 53 62 5
8408653 1993
28
Moderately severe osteogenesis imperfecta associated with substitutions of serine for glycine in the alpha 1(I) chain of type I collagen. 53 62 5
8456809 1993
29
Substitution of cysteine for glycine at residue 415 of one allele of the alpha 1(I) chain of type I procollagen in type III/IV osteogenesis imperfecta. 53 62 5
1770532 1991
30
Osteogenesis imperfecta due to recurrent point mutations at CpG dinucleotides in the COL1A1 gene of type I collagen. 53 62 5
2037280 1991
31
The effects of different cysteine for glycine substitutions within alpha 2(I) chains. Evidence of distinct structural domains within the type I collagen triple helix. 53 62 5
1990009 1991
32
A de novo G to T transversion in a pro-alpha 1 (I) collagen gene for a moderate case of osteogenesis imperfecta. Substitution of cysteine for glycine 178 in the triple helical domain. 53 62 5
1988452 1991
33
Frameshift mutation near the 3' end of the COL1A1 gene of type I collagen predicts an elongated Pro alpha 1(I) chain and results in osteogenesis imperfecta type I. 53 62 5
2295701 1990
34
Genetic analysis in Japanese patients with osteogenesis imperfecta: Genotype and phenotype spectra in 96 probands. 62 5
33939306 2021
35
Diagnostic utility of next-generation sequence genetic panel testing in children presenting with a clinically significant fracture history. 62 5
34091789 2021
36
Clinical and genetic analysis in 185 Chinese probands of osteogenesis imperfecta. 62 5
33070251 2021
37
Abnormal corneal properties in osteogenesis imperfecta and glaucoma: a case series. 62 5
33928192 2021
38
Case Report: A Novel COL1A1 Missense Mutation Associated With Dentineogenesis Imperfecta Type I. 62 5
34249109 2021
39
Osteogenesis imperfecta: Novel genetic variants and clinical observations from a clinical exome study of 54 Indian patients. 62 5
32770541 2021
40
RNA sequencing analysis reveals increased expression of interferon signaling genes and dysregulation of bone metabolism affecting pathways in the whole blood of patients with osteogenesis imperfecta. 62 5
33228694 2020
41
Inter- and Intrafamilial Phenotypic Variability in Individuals with Collagen-Related Osteogenesis Imperfecta. 62 5
32166892 2020
42
Biallelic variants in four genes underlying recessive osteogenesis imperfecta. 62 5
32413570 2020
43
The molecular landscape of osteogenesis imperfecta in a Brazilian tertiary service cohort. 62 5
32123938 2020
44
COL1-related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlap. 62 5
31794058 2020
45
Mutation spectrum of COL1A1/COL1A2 screening by high-resolution melting analysis of Chinese patients with osteogenesis imperfecta. 62 5
31414283 2020
46
Genotypic and Phenotypic Analysis in Chinese Cohort With Autosomal Recessive Osteogenesis Imperfecta. 62 5
33093841 2020
47
Comprehensive genetic analyses using targeted next-generation sequencing and genotype-phenotype correlations in 53 Japanese patients with osteogenesis imperfecta. 62 5
31363794 2019
48
COL1A1 C-propeptide mutations cause ER mislocalization of procollagen and impair C-terminal procollagen processing. 62 5
31055083 2019
49
Genotype-phenotype correlation study in 364 osteogenesis imperfecta Italian patients. 62 5
30886339 2019
50
Ventricular Septal Defect Closure in a Neonate with Osteogenesis Imperfecta. 62 5
31236376 2019

Variations for Brittle Bone Disorder

ClinVar genetic disease variations for Brittle Bone Disorder:

5 (show top 50) (show all 2564)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 COL1A1 NM_000088.4(COL1A1):c.4332dup (p.Asp1446fs) DUP Pathogenic
425631 rs1114167405 GRCh37: 17:48262925-48262926
GRCh38: 17:50185564-50185565
2 COL1A1 NM_000088.4(COL1A1):c.1127dup (p.Gly377fs) DUP Pathogenic
425581 rs72645369 GRCh37: 17:48272955-48272956
GRCh38: 17:50195594-50195595
3 COL1A1 NM_000088.4(COL1A1):c.1269del (p.Gly424fs) DEL Pathogenic
425578 rs1114167374 GRCh37: 17:48272623-48272623
GRCh38: 17:50195262-50195262
4 COL1A1 NM_000088.4(COL1A1):c.2934del (p.Ser979fs) DEL Pathogenic
425615 rs1114167395 GRCh37: 17:48266532-48266532
GRCh38: 17:50189171-50189171
5 COL1A1 NM_000088.4(COL1A1):c.2668-1G>A SNV Pathogenic
425614 rs1114167394 GRCh37: 17:48266900-48266900
GRCh38: 17:50189539-50189539
6 COL1A1 NM_000088.4(COL1A1):c.3748_3752dup (p.Ser1251fs) DUP Pathogenic
425623 rs1114167400 GRCh37: 17:48264062-48264063
GRCh38: 17:50186701-50186702
7 COL1A1 NM_000088.4(COL1A1):c.2881del (p.Val961fs) DEL Pathogenic
425586 rs1114167381 GRCh37: 17:48266585-48266585
GRCh38: 17:50189224-50189224
8 COL1A1 NM_000088.4(COL1A1):c.977G>A (p.Gly326Asp) SNV Pathogenic
425642 rs72645356 GRCh37: 17:48273541-48273541
GRCh38: 17:50196180-50196180
9 COL1A1 NM_000088.4(COL1A1):c.2091_2092del (p.Ala699fs) DEL Pathogenic
425605 rs1114167389 GRCh37: 17:48269184-48269185
GRCh38: 17:50191823-50191824
10 COL1A1 NM_000088.4(COL1A1):c.3233_3236del (p.Val1078fs) DEL Pathogenic
425619 rs1114167398 GRCh37: 17:48265482-48265485
GRCh38: 17:50188121-50188124
11 COL1A1 NM_000088.4(COL1A1):c.1086_1102del (p.Ser363fs) DEL Pathogenic
425594 rs1555574154 GRCh37: 17:48272981-48272997
GRCh38: 17:50195620-50195636
12 COL1A2 NM_000089.4(COL1A2):c.856G>A (p.Gly286Ser) SNV Pathogenic
425662 rs1114167418 GRCh37: 7:94038697-94038697
GRCh38: 7:94409385-94409385
13 COL1A2 NM_000089.4(COL1A2):c.875G>T (p.Gly292Val) SNV Pathogenic
430639 rs1131692167 GRCh37: 7:94038716-94038716
GRCh38: 7:94409404-94409404
14 COL1A1 NM_000088.4(COL1A1):c.2641G>A (p.Gly881Ser) SNV Pathogenic
430640 rs765659555 GRCh37: 17:48267066-48267066
GRCh38: 17:50189705-50189705
15 COL1A1 NM_000088.4(COL1A1):c.1247G>A (p.Gly416Asp) SNV Pathogenic
431382 rs1135401953 GRCh37: 17:48272645-48272645
GRCh38: 17:50195284-50195284
16 COL1A1 NM_000088.4(COL1A1):c.1929+1G>A SNV Pathogenic
438658 rs1555573313 GRCh37: 17:48270000-48270000
GRCh38: 17:50192639-50192639
17 COL1A1 NC_000017.10:g.(?_48271508)_(48278605_?)dup DUP Pathogenic
456722 GRCh37: 17:48271508-48278605
GRCh38: 17:50194147-50201244
18 COL1A1 NM_000088.4(COL1A1):c.2424_2425insCG (p.Gly809fs) INSERT Pathogenic
577741 rs1567756357 GRCh37: 17:48267714-48267715
GRCh38: 17:50190353-50190354
19 COL1A1 NM_000088.4(COL1A1):c.3593del (p.Phe1198fs) DEL Pathogenic
578747 rs1567752998 GRCh37: 17:48264222-48264222
GRCh38: 17:50186861-50186861
20 COL1A1 NM_000088.4(COL1A1):c.697-1G>C SNV Pathogenic
580224 rs67163049 GRCh37: 17:48274595-48274595
GRCh38: 17:50197234-50197234
21 COL1A1 NM_000088.3(COL1A1):c.920_926delinsTGAGAGGT (p.Pro307fs) INDEL Pathogenic
583231 rs1567761649 GRCh37: 17:48273706-48273712
GRCh38: 17:50196345-50196351
22 COL1A1 NM_000088.3(COL1A1):c.3124_3160del (p.Ala1042fs) DEL Pathogenic
623484 rs1567754589 GRCh37: 17:48265938-48265974
GRCh38: 17:50188577-50188613
23 COL1A1 NM_000088.4(COL1A1):c.1865_1866delinsG (p.Pro622fs) INDEL Pathogenic
643462 rs1598293885 GRCh37: 17:48270167-48270168
GRCh38: 17:50192806-50192807
24 COL1A1 NM_000088.4(COL1A1):c.3055G>T (p.Gly1019Cys) SNV Pathogenic
626346 rs1598288342 GRCh37: 17:48266147-48266147
GRCh38: 17:50188786-50188786
25 COL1A2 NM_000089.4(COL1A2):c.1315G>T (p.Gly439Cys) SNV Pathogenic
800487 rs1584320553 GRCh37: 7:94040431-94040431
GRCh38: 7:94411119-94411119
26 COL1A1 NM_000088.4(COL1A1):c.805-1G>A SNV Pathogenic
800488 rs1598298699 GRCh37: 17:48274032-48274032
GRCh38: 17:50196671-50196671
27 COL1A1 NM_000088.4(COL1A1):c.2915del (p.Phe972fs) DEL Pathogenic
803433 rs1598288967 GRCh37: 17:48266551-48266551
GRCh38: 17:50189190-50189190
28 COL1A1 NM_000088.4(COL1A1):c.938del (p.Pro313fs) DEL Pathogenic
803436 rs1598298292 GRCh37: 17:48273694-48273694
GRCh38: 17:50196333-50196333
29 COL1A1 NM_000088.4(COL1A1):c.725G>T (p.Gly242Val) SNV Pathogenic
803437 rs72645315 GRCh37: 17:48274566-48274566
GRCh38: 17:50197205-50197205
30 COL1A1 NM_000088.4(COL1A1):c.3494del (p.Pro1165fs) DEL Pathogenic
804337 rs1598286050 GRCh37: 17:48264413-48264413
GRCh38: 17:50187052-50187052
31 COL1A1 NC_000017.11:g.(?_50185482)_(50192870_?)del DEL Pathogenic
830737 GRCh37: 17:48262843-48270231
GRCh38:
32 COL1A1 NC_000017.11:g.(?_50194701)_(50203629_?)del DEL Pathogenic
833294 GRCh37: 17:48272062-48280990
GRCh38:
33 COL1A1 NM_000088.4(COL1A1):c.2182G>T (p.Gly728Ter) SNV Pathogenic
917882 rs72651648 GRCh37: 17:48268797-48268797
GRCh38: 17:50191436-50191436
34 COL1A1 NM_000088.4(COL1A1):c.3399del (p.Ala1134fs) DEL Pathogenic
952864 rs1906658881 GRCh37: 17:48264869-48264869
GRCh38: 17:50187508-50187508
35 COL1A1 NC_000017.10:g.(?_48268803)_48269354del DEL Pathogenic
1072817 GRCh37:
GRCh38:
36 COL1A1 NM_000088.4(COL1A1):c.1920del (p.Gly641fs) DEL Pathogenic
1299522 GRCh37: 17:48270010-48270010
GRCh38: 17:50192649-50192649
37 COL1A1 NM_000088.4(COL1A1):c.3711_3712delinsG (p.Ser1237fs) INDEL Pathogenic
1332735 GRCh37: 17:48264103-48264104
GRCh38: 17:50186742-50186743
38 COL1A1 NM_000088.4(COL1A1):c.2793del (p.Gly932fs) DEL Pathogenic
976213 rs1906866028 GRCh37: 17:48266774-48266774
GRCh38: 17:50189413-50189413
39 COL1A1 NM_000088.4(COL1A1):c.3157_3170del (p.Ala1053fs) DEL Pathogenic
419190 rs1555572249 GRCh37: 17:48265928-48265941
GRCh38: 17:50188567-50188580
40 COL1A1 NM_000088.4(COL1A1):c.91C>T (p.Gln31Ter) SNV Pathogenic
193044 rs794726873 GRCh37: 17:48278784-48278784
GRCh38: 17:50201423-50201423
41 COL1A1 NM_000088.4(COL1A1):c.3123del (p.Ala1042fs) DEL Pathogenic
265644 rs886039693 GRCh37: 17:48265975-48265975
GRCh38: 17:50188614-50188614
42 COL1A1 NM_000088.4(COL1A1):c.3135del (p.Gly1046fs) DEL Pathogenic
817616 rs1598288002 GRCh37: 17:48265963-48265963
GRCh38: 17:50188602-50188602
43 COL1A1 NC_000017.10:g.(?_48272388)_(48278874_?)del DEL Pathogenic
1359506 GRCh37: 17:48272388-48278874
GRCh38:
44 COL1A1 NM_000088.4(COL1A1):c.1200+2T>A SNV Pathogenic
1360253 GRCh37: 17:48272793-48272793
GRCh38: 17:50195432-50195432
45 COL1A1 NM_000088.4(COL1A1):c.3045+1del DEL Pathogenic
1394032 GRCh37: 17:48266263-48266263
GRCh38: 17:50188902-50188902
46 COL1A1 NM_000088.4(COL1A1):c.2444G>C (p.Gly815Ala) SNV Pathogenic
1400106 GRCh37: 17:48267695-48267695
GRCh38: 17:50190334-50190334
47 COL1A1 NM_000088.4(COL1A1):c.154_163del (p.Val52fs) DEL Pathogenic
1407583 GRCh37: 17:48277249-48277258
GRCh38: 17:50199888-50199897
48 COL1A1 NM_000088.4(COL1A1):c.2530dup (p.Ala844fs) DUP Pathogenic
1424452 GRCh37: 17:48267390-48267391
GRCh38: 17:50190029-50190030
49 COL1A1 NM_000088.4(COL1A1):c.1284_1291dup (p.Gly431fs) DUP Pathogenic
1416419 GRCh37: 17:48272600-48272601
GRCh38: 17:50195239-50195240
50 COL1A1 NM_000088.4(COL1A1):c.3638del (p.Gly1213fs) DEL Pathogenic
1430891 GRCh37: 17:48264177-48264177
GRCh38: 17:50186816-50186816

Expression for Brittle Bone Disorder

Search GEO for disease gene expression data for Brittle Bone Disorder.

Pathways for Brittle Bone Disorder

Pathways related to Brittle Bone Disorder according to GeneCards Suite gene sharing:

(show all 19)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.79 COL1A1 COL1A2 COL2A1 COL3A1 CREB3L1 IBSP
2
Show member pathways
12.56 PPIB PLOD2 P3H1 CRTAP COL3A1 COL2A1
3
Show member pathways
12.3 COL1A1 COL1A2 COL2A1 COL3A1 CRTAP DSPP
4
Show member pathways
12.27 COL3A1 COL2A1 COL1A2 COL1A1
5 12.14 IBSP COL2A1 COL1A2 COL1A1
6
Show member pathways
12.05 COL3A1 COL2A1 COL1A2 COL1A1
7
Show member pathways
12.02 IBSP DSPP COL3A1 COL2A1 COL1A2 COL1A1
8 11.91 COL3A1 COL2A1 COL1A2 COL1A1
9
Show member pathways
11.71 COL3A1 COL1A2 COL1A1
10 11.52 COL3A1 COL2A1 COL1A2 COL1A1
11 11.46 COL3A1 COL2A1 COL1A2 COL1A1
12 11.42 COL3A1 COL1A2 COL1A1
13 11.26 IBSP COL1A2 COL1A1
14 11.26 BGLAP COL1A1 COL1A2 IBSP
15 11.15 COL3A1 COL1A2 COL1A1
16 11.03 PPIB COL3A1 COL2A1 COL1A2 COL1A1
17 10.95 WNT1 TMEM38B SERPINF1 PPIB PLOD2 P3H1
18 10.81 COL3A1 COL1A1
19 10.51 PPIB P3H1

GO Terms for Brittle Bone Disorder

Cellular components related to Brittle Bone Disorder according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 10.41 WNT1 SERPINF1 IBSP CRTAP COL3A1 COL2A1
2 extracellular region GO:0005576 10.41 ALPL BGLAP COL1A1 COL1A2 COL2A1 COL3A1
3 endoplasmic reticulum GO:0005783 10.28 COL1A1 COL1A2 CREB3L1 CRTAP FKBP10 LRP5
4 collagen-containing extracellular matrix GO:0062023 10.18 COL1A1 COL1A2 COL2A1 COL3A1 P3H1 SERPINF1
5 extracellular matrix GO:0031012 9.73 ALPL COL1A1 COL1A2 COL2A1 COL3A1 DSPP
6 endoplasmic reticulum lumen GO:0005788 9.62 WNT1 PPIB P3H1 FKBP10 CRTAP COL3A1
7 collagen type I trimer GO:0005584 9.56 COL1A2 COL1A1
8 collagen trimer GO:0005581 9.55 COL3A1 COL2A1 COL1A2 COL1A1

Biological processes related to Brittle Bone Disorder according to GeneCards Suite gene sharing:

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 10.13 IBSP COL3A1 COL2A1 COL1A2 COL1A1
2 skeletal system development GO:0001501 10.1 ALPL BGLAP COL1A1 COL1A2 COL2A1
3 osteoblast differentiation GO:0001649 10.07 IBSP CREB3L1 COL1A1 BGLAP ALPL
4 cellular response to amino acid stimulus GO:0071230 10.05 COL3A1 COL1A2 COL1A1
5 chaperone-mediated protein folding GO:0061077 10.01 PPIB P3H1 CRTAP
6 blood vessel development GO:0001568 9.95 COL3A1 COL1A2 COL1A1
7 endochondral ossification GO:0001958 9.95 COL2A1 COL1A1 ALPL
8 collagen fibril organization GO:0030199 9.93 COL1A1 COL1A2 COL2A1 COL3A1 CRTAP FKBP10
9 cartilage development involved in endochondral bone morphogenesis GO:0060351 9.87 COL2A1 COL1A1
10 peptidyl-lysine hydroxylation GO:0017185 9.86 PLOD2 FKBP10
11 response to macrophage colony-stimulating factor GO:0036005 9.83 ALPL BGLAP
12 extracellular matrix constituent secretion GO:0070278 9.81 CREB3L1 TMEM38B
13 negative regulation of post-translational protein modification GO:1901874 9.8 CRTAP P3H1
14 ossification GO:0001503 9.8 TMEM38B IBSP COL2A1 COL1A1 BGLAP
15 anatomical structure development GO:0048856 9.76 COL3A1 COL2A1 COL1A1
16 response to organic cyclic compound GO:0014070 9.76 SERPINF1 COL1A1 BGLAP ALPL
17 bone mineralization GO:0030282 9.73 TMEM38B IFITM5 IBSP COL1A2 BGLAP ALPL
18 biomineral tissue development GO:0031214 9.65 IBSP DSPP BGLAP ALPL
19 bone development GO:0060348 9.4 WNT1 TMEM38B PPIB P3H1 LRP5 COL2A1

Molecular functions related to Brittle Bone Disorder according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 collagen binding GO:0005518 9.86 PPIB P3H1 DSPP CRTAP
2 extracellular matrix structural constituent GO:0005201 9.85 DSPP COL3A1 COL2A1 COL1A2 COL1A1
3 SMAD binding GO:0046332 9.8 CREB3L1 COL3A1 COL1A2
4 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.56 COL3A1 COL2A1 COL1A2 COL1A1
5 platelet-derived growth factor binding GO:0048407 9.23 COL3A1 COL2A1 COL1A2 COL1A1

Sources for Brittle Bone Disorder

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....