OI
MCID: BRT054
MIFTS: 72

Brittle Bone Disorder (OI)

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

Aliases & Classifications for Brittle Bone Disorder

MalaCards integrated aliases for Brittle Bone Disorder:

Name: Brittle Bone Disorder 56 29 71
Osteogenesis Imperfecta 12 74 52 25 58 36 29 54 6 42 43 15 39 71 32
Brittle Bone Disease 12 74 52 25 58
Fragilitas Ossium 12 52 25
Osteopsathyrosis 12 52 58
Lobstein Disease 74 52 58
Oi 52 25 58
Porak and Durante Disease 52 58
Vrolik Disease 52 25
Osteogenesis Imperfecta, Recessive Perinatal Lethal 71
Osteogenesis Imperfecta, Dominant Perinatal Lethal 71
Lobstein's Syndrome 12
Glass Bone Disease 58
Lobstein's Disease 71
Vrolik's Disease 12

Characteristics:

Orphanet epidemiological data:

58
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:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Brittle Bone Disorder

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 (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 v, 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 Focal Adhesion. The drugs Pamidronate and Risedronate have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and eye, and related phenotypes are macrocephaly and carious teeth

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.

NIH Rare Diseases : 52 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, however, 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.

MedlinePlus : 42 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

KEGG : 36 Osteogenesis imperfecta is characterized by an inherited bone fragility mainly caused by mutations in type I collagen. Poor teeth development, blue sclerae and hearing impairment also manifest in individuals with osteogenesis imperfecta. Mutations in the other genes have been recently identified.

Wikipedia : 74 Osteogenesis imperfecta (OI), also known as brittle bone disease, is a group of genetic disorders that... 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 537)
# Related Disease Score Top Affiliating Genes
1 osteogenesis imperfecta, type i 35.7 PEPD CRTAP COL1A2 COL1A1 CD36 BGLAP
2 osteogenesis imperfecta, type v 35.6 IFITM5 COL1A2 COL1A1 CD36
3 osteogenesis imperfecta, type vii 35.6 CRTAP CD36
4 osteogenesis imperfecta, type ii 35.6 P3H1 FKBP10 FGFR3 CRTAP COL1A2 COL1A1
5 osteogenesis imperfecta, type vi 35.6 SERPINF1 IFITM5 IBSP COL1A2 COL1A1
6 osteogenesis imperfecta, type viii 35.6 P3H1 CRTAP
7 osteogenesis imperfecta, type iii 35.4 SERPINF1 P3H1 FKBP10 CRTAP CREB3L1 COL1A2
8 osteogenesis imperfecta, type iv 35.3 SPARC SERPINF1 P3H1 FKBP10 DSPP CRTAP
9 high bone mass osteogenesis imperfecta 35.1 COL1A2 COL1A1
10 osteogenesis imperfecta, type xii 35.0 SERPINF1 FKBP10
11 col1a1/2 osteogenesis imperfecta 34.9 COL1A2 COL1A1
12 ehlers-danlos/osteogenesis imperfecta syndrome 34.6 COL1A2 COL1A1
13 bruck syndrome 34.4 SERPINF1 P3H1 IFITM5 FKBP10 CRTAP COL1A2
14 dentinogenesis imperfecta 34.4 SERPINF1 P3H1 IFITM5 FKBP10 DSPP CRTAP
15 cole-carpenter syndrome 34.1 SERPINF1 P3H1 MIA2 CRTAP CREB3L1 COL1A2
16 orthostatic intolerance 33.6 DCN COL3A1 COL1A2 COL1A1
17 coxa vara 33.5 CRTAP COL2A1
18 osteoporosis, juvenile 33.5 SPARC COL1A2 COL1A1 CD36 BGLAP
19 bone disease 33.4 SPARC PTH1R IBSP FGFR3 DCN COL2A1
20 connective tissue disease 33.3 PEPD P3H1 IBSP DSPP COL3A1 COL2A1
21 dentin dysplasia, type ii 33.1 IBSP DSPP
22 boomerang dysplasia 32.7 P3H1 CRTAP
23 scoliosis 32.3 FKBP10 FGFR3 DCN COL2A1 COL1A2 COL1A1
24 bone resorption disease 32.2 PTH1R IBSP COL1A2 COL1A1 BGLAP
25 otosclerosis 32.2 SERPINF1 PTH1R COL1A2 COL1A1 CD36
26 ehlers-danlos syndrome 32.0 DCN COL3A1 COL1A2 COL1A1 CD36
27 skeletal dysplasias 32.0 PTH1R FGFR3 COL2A1
28 rickets 31.9 IBSP DSPP CD36 BGLAP
29 osteogenic sarcoma 31.9 SPARC PTH1R IBSP DCN BGLAP
30 osteoporosis 31.9 SPARC PTH1R P3H1 IBSP CRTAP COL2A1
31 fibrous dysplasia 31.6 SPARC IBSP BGLAP
32 marfan syndrome 31.4 DCN COL3A1 COL2A1 COL1A2 COL1A1 CD36
33 achondroplasia 31.4 SPARC PTH1R FGFR3 COL2A1 COL1A1 BGLAP
34 thanatophoric dysplasia, type i 31.3 PTH1R FGFR3 COL2A1
35 collagen disease 31.2 DCN COL3A1 COL2A1 COL1A2 COL1A1
36 pseudoxanthoma elasticum 31.2 SPARC IBSP DCN
37 hypophosphatemia 31.2 PTH1R DSPP BGLAP
38 ehlers-danlos syndrome, arthrochalasia type, 2 31.1 COL1A2 COL1A1
39 myositis ossificans 31.1 SPARC COL1A1 BGLAP
40 caffey disease 31.0 COL2A1 COL1A2 COL1A1 CD36
41 stickler syndrome 31.0 COL2A1 COL1A2 COL1A1
42 dentin dysplasia 31.0 MIA2 IBSP DSPP
43 endosteal hyperostosis, autosomal dominant 31.0 IBSP CRTAP COL1A2 COL1A1
44 tooth ankylosis 31.0 PTH1R CRTAP
45 pseudohypoparathyroidism 31.0 PTH1R FGFR3 BGLAP
46 classic ehlers-danlos syndrome 30.9 COL1A2 COL1A1
47 odontochondrodysplasia 30.6 SPARC SERPINF1 PTH1R P3H1 MIA2 IFITM5
48 osteogenesis imperfecta, type ix 13.1
49 osteogenesis imperfecta, type xi 13.0
50 osteogenesis imperfecta, type x 13.0

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 31 (show top 50) (show all 111)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000256
2 carious teeth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000670
3 pectus carinatum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000768
4 gait disturbance 58 31 hallmark (90%) Very frequent (99-80%) HP:0001288
5 brachycephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000248
6 abnormality of the metaphysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000944
7 prominent occiput 58 31 hallmark (90%) Very frequent (99-80%) HP:0000269
8 diaphyseal thickening 58 31 hallmark (90%) Very frequent (99-80%) HP:0005019
9 intrauterine growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001511
10 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
11 abnormality of tibia morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0002992
12 abnormality of dental enamel 58 31 hallmark (90%) Very frequent (99-80%) HP:0000682
13 convex nasal ridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000444
14 blue sclerae 58 31 hallmark (90%) Frequent (79-30%) HP:0000592
15 abnormality of dental color 58 31 hallmark (90%) Very frequent (99-80%) HP:0011073
16 decreased skull ossification 58 31 hallmark (90%) Very frequent (99-80%) HP:0004331
17 dentinogenesis imperfecta 58 31 hallmark (90%) Frequent (79-30%) HP:0000703
18 thin ribs 58 31 hallmark (90%) Very frequent (99-80%) HP:0000883
19 corneal opacity 58 31 frequent (33%) Frequent (79-30%) HP:0007957
20 scoliosis 58 31 frequent (33%) Occasional (29-5%) HP:0002650
21 abnormal cortical bone morphology 58 31 frequent (33%) Frequent (79-30%) HP:0003103
22 visual impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000505
23 hyperhidrosis 58 31 frequent (33%) Frequent (79-30%) HP:0000975
24 genu valgum 58 31 frequent (33%) Frequent (79-30%) HP:0002857
25 osteopenia 58 31 frequent (33%) Frequent (79-30%) HP:0000938
26 osteoporosis 58 31 frequent (33%) Frequent (79-30%) HP:0000939
27 slender long bone 58 31 frequent (33%) Frequent (79-30%) HP:0003100
28 protrusio acetabuli 58 31 frequent (33%) Occasional (29-5%) HP:0003179
29 glaucoma 58 31 frequent (33%) Frequent (79-30%) HP:0000501
30 joint hyperflexibility 58 31 frequent (33%) Frequent (79-30%) HP:0005692
31 large fontanelles 58 31 frequent (33%) Frequent (79-30%) HP:0000239
32 narrow chest 58 31 frequent (33%) Frequent (79-30%) HP:0000774
33 triangular face 58 31 frequent (33%) Occasional (29-5%) HP:0000325
34 femoral bowing 58 31 frequent (33%) Frequent (79-30%) HP:0002980
35 biconcave vertebral bodies 58 31 frequent (33%) Frequent (79-30%) HP:0004586
36 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
37 inguinal hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000023
38 kyphosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002808
39 umbilical hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001537
40 short stature 58 31 occasional (7.5%) Frequent (79-30%) HP:0004322
41 pectus excavatum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000767
42 thrombocytopenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001873
43 recurrent fractures 58 31 occasional (7.5%) Frequent (79-30%) HP:0002757
44 micromelia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002983
45 wormian bones 58 31 occasional (7.5%) Occasional (29-5%) HP:0002645
46 visceral angiomatosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0100761
47 abnormal endocardium morphology 31 occasional (7.5%) HP:0004306
48 bowing of the long bones 58 Occasional (29-5%)
49 dental malocclusion 58 Frequent (79-30%)
50 abnormality of the dentition 58 Frequent (79-30%)

Clinical features from OMIM:

603828

UMLS symptoms related to Brittle Bone Disorder:


back pain, sciatica, muscle cramp

MGI Mouse Phenotypes related to Brittle Bone Disorder:

45 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.36 CD36 COL1A1 COL1A2 COL2A1 COL3A1 CREB3L1
2 hematopoietic system MP:0005397 10.31 BGLAP CD36 COL1A1 COL1A2 COL3A1 CREB3L1
3 cellular MP:0005384 10.25 BGLAP CD36 COL1A1 COL1A2 COL2A1 COL3A1
4 homeostasis/metabolism MP:0005376 10.25 BGLAP CD36 COL1A1 COL1A2 COL2A1 COL3A1
5 immune system MP:0005387 10.21 BGLAP CD36 COL1A1 COL1A2 COL2A1 COL3A1
6 digestive/alimentary MP:0005381 10.18 CD36 COL1A1 COL2A1 COL3A1 DCN FGFR3
7 craniofacial MP:0005382 10.15 COL1A1 COL2A1 DCN FGFR3 FKBP10 IBSP
8 adipose tissue MP:0005375 10.07 BGLAP CD36 COL1A1 COL1A2 COL2A1 COL3A1
9 limbs/digits/tail MP:0005371 10 COL1A1 COL1A2 COL2A1 FGFR3 FKBP10 IBSP
10 integument MP:0010771 9.92 COL1A1 COL1A2 COL3A1 DCN FGFR3 P3H1
11 skeleton MP:0005390 9.89 BGLAP CD36 COL1A1 COL1A2 COL2A1 CREB3L1
12 muscle MP:0005369 9.7 CD36 COL1A1 COL1A2 COL3A1 DCN P3H1
13 vision/eye MP:0005391 9.32 CD36 COL1A1 COL1A2 COL2A1 DCN FGFR3

Drugs & Therapeutics for Brittle Bone Disorder

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

(show top 50) (show all 54)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pamidronate Approved Phase 4 40391-99-9 4674
2
Risedronate Approved, Investigational Phase 4 105462-24-6 5245
3
Teriparatide Approved, Investigational Phase 4 52232-67-4 16133850
4
Parathyroid hormone Approved, Investigational Phase 4 9002-64-6
5
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
6
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
7
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 5280795 6221
8 Vitamins Phase 4
9 Calciferol Phase 4
10 Trace Elements Phase 4
11 Ergocalciferols Phase 4
12 Nutrients Phase 4
13 Micronutrients Phase 4
14 Vitamin D2 Phase 4
15 Hormones Phase 4
16 Calcium, Dietary Phase 4
17 calcium channel blockers Phase 4
18 Pharmaceutical Solutions Phase 4
19
Calcium Nutraceutical Phase 4 7440-70-2 271
20
Denosumab Approved Phase 3 615258-40-7
21
Peginterferon alfa-2a Approved, Investigational Phase 2, Phase 3 198153-51-4 5360545
22
Alendronate Approved Phase 3 66376-36-1, 121268-17-5 2088
23 Anti-Infective Agents Phase 2, Phase 3
24 interferons Phase 2, Phase 3
25 Antiviral Agents Phase 2, Phase 3
26 Diphosphonates Phase 3
27
Calcium carbonate Approved, Investigational Phase 2 471-34-1
28
Zoledronic Acid Approved Phase 2 118072-93-8 68740
29 Antibodies Phase 2
30 Immunoglobulins Phase 2
31 Liver Extracts Phase 1, Phase 2
32
Cyclophosphamide Approved, Investigational Phase 1 50-18-0, 6055-19-2 2907
33
Clotrimazole Approved, Vet_approved Phase 1 23593-75-1 2812
34
Miconazole Approved, Investigational, Vet_approved Phase 1 22916-47-8 4189
35
Busulfan Approved, Investigational Phase 1 55-98-1 2478
36 Immunosuppressive Agents Phase 1
37 Alkylating Agents Phase 1
38 Antifungal Agents Phase 1
39 Cyclosporins Phase 1
40 Dermatologic Agents Phase 1
41 Immunologic Factors Phase 1
42 Calcineurin Inhibitors Phase 1
43 Antirheumatic Agents Phase 1
44
Sodium citrate Approved, Investigational 68-04-2
45
Lithium carbonate Approved 554-13-2
46
tannic acid Approved 1401-55-4
47
Benzocaine Approved, Investigational 94-09-7, 1994-09-7 2337
48
Citric acid Approved, Nutraceutical, Vet_approved 77-92-9 311
49
Calcifediol Approved, Nutraceutical 19356-17-3 5283731 6433735
50 Citrate

Interventional clinical trials:

(show top 50) (show all 65)
# Name Status NCT ID Phase Drugs
1 A Study to Assess the Effectiveness of Teriparatide (FORTEO) for Increasing Bone Mass and Improving Bone Strength in Adults Affected With Osteogenesis Imperfecta (OI) Completed NCT00131469 Phase 4 Teriparatide (FORTEO);Placebos
2 Efficacy and Safety of Alendronate in Chinese Children or Adolescents With Osteogenesis Imperfecta: an Age Stratified Prospective Study Completed NCT02303873 Phase 4 Alendronate
3 Bisphosphonate Therapy for Osteogenesis Imperfecta Completed NCT00159419 Phase 4 Alendronate;Pamidronate
4 Effect of High-Dose Vitamin D on Bone Density in Osteogenesis Imperfecta Completed NCT01713231 Phase 4
5 Effects of Bisphosphonates on OI-Related Hearing Loss: A Pilot Study Recruiting NCT04152551 Phase 4 Risedronate Oral Tablet
6 Treatment of Osteogenesis Imperfecta With Parathyroid Hormone and Zoledronic Acid Recruiting NCT03735537 Phase 4 Teriparatide Pen Injector;Zoledronic Acid
7 Growth Hormone Therapy and Bone Quality in Pediatric Osteoporosis Unknown status NCT00757393 Phase 3 Vitamin D + Calcium + Exercise program + Humatrope
8 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
9 Safety and Efficacy of Risedronate in the Treatment of Osteogenesis Imperfecta in Children Completed NCT00106028 Phase 3 risedronate sodium (Actonel);Placebo
10 A Trial of Pamidronate in Children With Osteogenesis Imperfecta Completed NCT00005901 Phase 3 Pamidronate (Aredia)
11 Studies of Growth Deficiency and Growth Hormone Treatment in Children With Osteogenesis Imperfecta Types III and IV Completed NCT00001305 Phase 3 Humatrope
12 Multicenter, Single-arm Open-label Extensión Study to Assess Long-term Safety and Efficacy of Current or Prior Treatment With Denosumab in Children/Young Adults With Osteogenesis Imperfecta Recruiting NCT03638128 Phase 3 Denosumab
13 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 Active, not recruiting NCT02352753 Phase 3 Denosumab
14 Randomised Control Study for Inactive Chronic Hepatitis B Patients With Low Viral Load, With Peg-Interferon (INACTIVE) Active, not recruiting NCT02992704 Phase 2, Phase 3 Peginterferon Alfa-2A
15 Use of Oral Bisphosphonates in the Treatment of Osteoporosis of Non-walking Children With Cerebral Palsy Terminated NCT00822029 Phase 3 FOSAMAX
16 Bisphosphonate Treatment of Osteogenesis Imperfecta Completed NCT00063479 Phase 2 Zoledronic Acid
17 Efficacy and Safety of Zoledronic Acid in Children (1 -17 Years) With Severe Osteogenesis Imperfecta Completed NCT00131118 Phase 2 Zoledronic Acid
18 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
19 TRANSLATIONAL THERAPY IN PATIENTS WITH OSTEOGENESIS IMPERFECTA - A PILOT TRIAL ON TREATMENT WITH THE RANKL-ANTIBODY DENOSUMAB Completed NCT01799798 Phase 2 Denosumab
20 Do Bisphosphonates Alter the Skeletal Response to Mechanical Stimulation in Children With Osteogenesis Imperfecta? Completed NCT03208582 Phase 2 Risedronate Sodium
21 A Comparison of Casting and Splinting in Pediatric Radial Buckle Fractures Completed NCT01010347 Phase 2
22 A Randomized, Open-label Therapeutic Trial Evaluating the Efficacy and Safety of Neridronate (Nerixia®) in the Treatment of Osteoporosis in Patients With Thalassemia Major and Severe Thalassemia Intermedia. Completed NCT01140321 Phase 2 Neridronate
23 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 Recruiting NCT03706482 Phase 1, Phase 2
24 Protocol Title: A Phase 2b, Multicentre, Multinational, Double-blind, Dose-finding Study, Incorporating an Open Label Substudy, in Adult Patients With Type I, III or IV Osteogenesis Imperfecta Treated With Setrusumab (BPS804). Active, not recruiting NCT03118570 Phase 2 BPS804
25 The Effect of Treatment With Teriparatide and Zoledronic Acid in Patients With Osteogenesis Imperfecta Active, not recruiting NCT01679080 Phase 2 Zoledronic acid;Teriparatide
26 A Single-Blinded, Randomized, Controlled, Phase 2 Pilot Study to Evaluate the Safety and Efficacy of Denosumab Compared to Zoledronic Acid for the Treatment of Osteoporosis in Children Active, not recruiting NCT02632916 Phase 2 Zoledronic Acid;Denosumab
27 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
28 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
29 Treatment of Severe (Types II and III) Osteogenesis Imperfecta by Allogeneic Bone Marrow Transplantation Completed NCT00705120 Phase 1 Cyclophosphamide;Cyclosporin;Busulfan
30 Mesenchymal Stem Cell Based Therapy for the Treatment of Osteogenesis Imperfecta Completed NCT02172885 Phase 1
31 Stromal Therapy of Osteodysplasia After Allogeneic Bone Marrow Transplantation: A Phase I Study Completed NCT00186914 Phase 1
32 Multicenter Study to Evaluate Safety of Fresolimumab in Adults With Moderate-to-severe Osteogenesis Imperfecta Recruiting NCT03064074 Phase 1 Fresolimumab
33 Ex-Vivo Expanded Mesenchymal Stem Cells To Repair The Kidney And Improve Function In Cisplatin-Induced Acute Renal Failure In Patients With Solid Organ Cancers Withdrawn NCT01275612 Phase 1
34 Preventive Fixation of Lower Limbs in Osteogenesis Imperfecta (Brittle Bone Disease) With the Highlight of the Fassier-Duval Unknown status NCT02868294
35 Molecular Genetic Study of Suspected Cases of Osteogenesis Imperfecta Attending Assiut University Children Hospital Unknown status NCT03169192 Zoledronic Acid
36 TREATMENT OF SUPRACONDYLAR FRACTURES IN ADOLESCENTS: CLOSED REDUCTION AND CIRCULAR RING EXTERNAL FIXATION VERSUS OPEN REDUCTION AND INTERNAL FIXATION Unknown status NCT02196311
37 High Resolution Thermal Imaging to Identify Vertebral Fractures in Children and Young People With Osteogenesis Imperfecta Completed NCT04231916
38 Marrow Mesenchymal Cell Therapy for Osteogenesis Imperfecta: A Pilot Study Completed NCT00187018
39 Rare Diseases Clinical Research Network Brittle Bone Disorders Consortium Osteogenesis Imperfecta (OI) Quality of Life Survey Pilot Project 2 Completed NCT02793063
40 Pregnancy in Osteogenesis Imperfecta (OI) Registry Completed NCT03072303
41 Evaluation and Intervention for Ambulation, Growth, and Basilar Invagination in Osteogenesis Imperfecta Completed NCT00001594
42 Whole Body Vibration as an Osteogenic Treatment for Children With Osteogenesis Imperfecta With Limited Mobility: A Randomised Controlled Pilot Trial Completed NCT03029312
43 NGS Strategy Effectiveness in Molecular Diagnosis Completed NCT03557567
44 Calcium Intake Improvement After Nutritional Intervention in Pediatric Patients With Osteogenesis Imperfecta Completed NCT03841188
45 The Influence of Bisphosphonates in the Oral Cavity in Children Completed NCT00402064
46 Prevention of Post Operative Bone Loss in Children Completed NCT00655681 pamidronate
47 Trial of Lithium Carbonate for Treatment of Osteoporosis Pseudoglioma Syndrome Completed NCT01108068 Lithium
48 Association Between Vitamin D Receptor Polymorphism and Serum Vitamin D Levels in Children With Low-Energy Fractures Completed NCT02805647
49 Reduction of Radial Head Subluxation in Children Via a Nurse Initiated Pathway: A Randomized Control Trial Completed NCT00993954
50 Project Osteoarthritis: Recovering Quality of Life Through Education Completed NCT01572051

Search NIH Clinical Center for Brittle Bone Disorder

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


Calcitonin
salmon calcitonin

Cochrane evidence based reviews: osteogenesis imperfecta

Genetic Tests for Brittle Bone Disorder

Genetic tests related to Brittle Bone Disorder:

# Genetic test Affiliating Genes
1 Osteogenesis Imperfecta 29 COL1A1 COL1A2
2 Brittle Bone Disorder 29

Anatomical Context for Brittle Bone Disorder

MalaCards organs/tissues related to Brittle Bone Disorder:

40
Bone, Skin, Eye, Testes, Bone Marrow, Lung, Heart

Publications for Brittle Bone Disorder

Articles related to Brittle Bone Disorder:

(show top 50) (show all 4708)
# Title Authors PMID Year
1
Redefinition of exon 7 in the COL1A1 gene of type I collagen by an intron 8 splice-donor-site mutation in a form of osteogenesis imperfecta: influence of intron splice order on outcome of splice-site mutation. 61 54 6
10417276 1999
2
Two new recurrent nucleotide mutations in the COL1A1 gene in four patients with osteogenesis imperfecta: about one-fifth are recurrent. 54 6 61
9067755 1997
3
(G586V) substitutions in the alpha 1 and alpha 2 chains of collagen I: effect of alpha-chain stoichiometry on the phenotype of osteogenesis imperfecta? 61 54 6
9143923 1997
4
Alternative splicing in COL1A1 mRNA leads to a partial null allele and two In-frame forms with structural defects in non-lethal osteogenesis imperfecta. 54 61 6
8910493 1996
5
Substitution of glycine-661 by serine in the alpha1(I) and alpha2(I) chains of type I collagen results in different clinical and biochemical phenotypes. 6 61 54
8786074 1996
6
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. 61 54 6
8669434 1996
7
Splice site mutation causing deletion of exon 21 sequences from the pro alpha 2(I) chain of type I collagen in a patient with severe dentinogenesis imperfecta but very mild osteogenesis imperfecta. 61 54 6
8829655 1996
8
Mutation in the carboxy-terminal propeptide of the Pro alpha 1(I) chain of type I collagen in a child with severe osteogenesis imperfecta (OI type III): possible implications for protein folding. 6 54 61
8723681 1996
9
Recurrence of osteogenesis imperfecta because of paternal mosaicism: Gly862-->Ser substitution in a type I collagen gene (COL1A1). 54 6 61
7789952 1995
10
Defective splicing of mRNA from one COL1A1 allele of type I collagen in nondeforming (type I) osteogenesis imperfecta. 61 6 54
8408653 1993
11
A single amino acid deletion in the alpha 2(I) chain of type I collagen produces osteogenesis imperfecta type III. 6 54 61
8444468 1993
12
Moderately severe osteogenesis imperfecta associated with substitutions of serine for glycine in the alpha 1(I) chain of type I collagen. 61 54 6
8456809 1993
13
Osteogenesis imperfecta due to recurrent point mutations at CpG dinucleotides in the COL1A1 gene of type I collagen. 6 54 61
2037280 1991
14
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. 6 61 54
1988452 1991
15
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. 6 61 54
2295701 1990
16
Homozygosity for CREB3L1 premature stop codon in first case of recessive osteogenesis imperfecta associated with OASIS-deficiency to survive infancy. 6 61
29936144 2018
17
Novel variant in Sp7/Osx associated with recessive osteogenesis imperfecta with bone fragility and hearing impairment. 6 61
29382611 2018
18
Monoallelic and biallelic CREB3L1 variant causes mild and severe osteogenesis imperfecta, respectively. 61 6
28817112 2018
19
Recessive osteogenesis imperfecta caused by missense mutations in SPARC. 6 61
26027498 2015
20
HSP47 and FKBP65 cooperate in the synthesis of type I procollagen. 6 61
25510505 2015
21
Identification and in vivo functional characterization of novel compound heterozygous BMP1 variants in osteogenesis imperfecta. 6 61
25402547 2015
22
Report of a newly indentified patient with mutations in BMP1 and underlying pathogenetic aspects. 61 6
24648371 2014
23
Mutations in WNT1 are a cause of osteogenesis imperfecta. 61 6
23434763 2013
24
Mutations in WNT1 cause different forms of bone fragility. 6 61
23499309 2013
25
WNT1 mutations in families affected by moderately severe and progressive recessive osteogenesis imperfecta. 61 6
23499310 2013
26
A deletion mutation in TMEM38B associated with autosomal recessive osteogenesis imperfecta. 61 6
23316006 2013
27
Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen. 61 6
22949511 2013
28
Absence of FKBP10 in recessive type XI osteogenesis imperfecta leads to diminished collagen cross-linking and reduced collagen deposition in extracellular matrix. 6 61
22718341 2012
29
Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome--osteogenesis imperfecta phenotypic spectrum. 61 6
22689593 2012
30
Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation. 6 61
23054245 2012
31
Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta. 6 61
22052668 2012
32
Mutations in FKBP10 can cause a severe form of isolated Osteogenesis imperfecta. 6 61
22107750 2011
33
Mutations in FKBP10 cause both Bruck syndrome and isolated osteogenesis imperfecta in humans. 61 6
21567934 2011
34
Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome. 6 61
20839288 2011
35
Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta. 6 61
21353196 2011
36
Identification of a frameshift mutation in Osterix in a patient with recessive osteogenesis imperfecta. 61 6
20579626 2010
37
Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta. 61 6
20362275 2010
38
Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta. 6 61
20188343 2010
39
Osteogenesis imperfecta type III with intracranial hemorrhage and brachydactyly associated with mutations in exon 49 of COL1A2. 6 61
19208385 2009
40
COL1A1/2 Osteogenesis Imperfecta 6 61
20301472 2005
41
Three children with lower limb fractures and a mineralization defect: a novel bone fragility disorder? 6 61
15542026 2004
42
High proportion of mutant osteoblasts is compatible with normal skeletal function in mosaic carriers of osteogenesis imperfecta. 6 61
15024692 2004
43
A variant of osteogenesis imperfecta type IV with resolving kyphomelia is caused by a novel COL1A2 mutation. 6 61
11836364 2002
44
G76E substitution in type I collagen is the first nonlethal glutamic acid substitution in the alpha1(I) chain and alters folding of the N-terminal end of the helix. 61 6
11286507 2001
45
Glycine to tryptophan substitution in type I collagen in a patient with OI type III: a unique collagen mutation. 6 61
10807697 2000
46
New brittle bone disorder: report of a family with six affected individuals. 56 61
10340645 1999
47
Mutation producing alternative splicing of exon 26 in the COL1A2 gene causes type IV osteogenesis imperfecta with intrafamilial clinical variability. 61 6
9268111 1997
48
Variable clinical expression in a family with OI type IV due to deletion of three base pairs in COL1A1. 6 61
9007315 1996
49
Deletion of a Gly-Pro-Pro repeat in the pro alpha2(I) chain of procollagen I in a family with dominant osteogenesis imperfecta type IV. 61 6
8786065 1996
50
Arachnoid cyst and chronic subdural haematoma in a child with osteogenesis imperfecta type III resulting from the substitution of glycine 1006 by alanine in the pro alpha 2(I) chain of type I procollagen. 6 61
8728690 1996

Variations for Brittle Bone Disorder

ClinVar genetic disease variations for Brittle Bone Disorder:

6 (show top 50) (show all 419) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 COL1A1 NM_000088.3(COL1A1):c.3505G>A (p.Gly1169Ser)SNV Pathogenic 425589 rs67815019 17:48264402-48264402 17:50187041-50187041
2 COL1A1 NM_000088.3(COL1A1):c.1821+1G>ASNV Pathogenic 425580 rs66555264 17:48270354-48270354 17:50192993-50192993
3 COL1A1 NM_000088.3(COL1A1):c.1299+1G>ASNV Pathogenic 425599 rs66490707 17:48272592-48272592 17:50195231-50195231
4 COL1A1 NM_000088.3(COL1A1):c.1243C>T (p.Arg415Ter)SNV Pathogenic 425597 rs72648326 17:48272649-48272649 17:50195288-50195288
5 COL1A1 NM_000088.3(COL1A1):c.3270del (p.Gly1091fs)deletion Pathogenic 444000 rs1555572125 17:48265336-48265336 17:50187975-50187975
6 COL1A1 NM_000088.3(COL1A1):c.2362G>A (p.Gly788Ser)SNV Pathogenic 447141 rs67879854 17:48267939-48267939 17:50190578-50190578
7 COL1A2 NM_000089.3(COL1A2):c.982G>A (p.Gly328Ser)SNV Pathogenic 456848 rs66612022 7:94039080-94039080 7:94409768-94409768
8 COL1A1 NM_000088.3(COL1A1):c.1862_1865del (p.Pro621fs)deletion Pathogenic 456740 rs72651620 17:48270168-48270171 17:50192807-50192810
9 CREB3L1 NM_052854.4(CREB3L1):c.928_930AAG[2] (p.Lys312del)short repeat Pathogenic 559483 rs1555222973 11:46334187-46334189 11:46312636-46312638
10 COL1A2 NM_000089.3(COL1A2):c.1127G>T (p.Gly376Val)SNV Pathogenic 579070 rs67543427 7:94039769-94039769 7:94410457-94410457
11 COL1A2 NM_000089.3(COL1A2):c.2503G>A (p.Gly835Ser)SNV Pathogenic 585501 rs72658193 7:94052368-94052368 7:94423056-94423056
12 COL1A2 NM_000089.3(COL1A2):c.2684G>A (p.Gly895Asp)SNV Pathogenic 590993 rs72659305 7:94054439-94054439 7:94425127-94425127
13 COL1A1 NM_000088.3(COL1A1):c.799_800CA[1] (p.His267fs)short repeat Pathogenic 590991 rs1567762262 17:48274373-48274374 17:50197012-50197013
14 COL1A2 NM_000089.3(COL1A2):c.1216G>A (p.Gly406Ser)SNV Pathogenic 599144 rs72658108 7:94040219-94040219 7:94410907-94410907
15 COL1A1 NM_000088.3(COL1A1):c.2164G>A (p.Gly722Ser)SNV Pathogenic 590988 rs72651647 17:48268815-48268815 17:50191454-50191454
16 P3H1 NM_022356.3(P3H1):c.541C>T (p.Gln181Ter)SNV Pathogenic 635343 1:43228071-43228071 1:42762400-42762400
17 COL1A1 NM_000088.3(COL1A1):c.120C>A (p.Cys40Ter)SNV Pathogenic 635344 17:48277292-48277292 17:50199931-50199931
18 COL1A1 NM_000088.3(COL1A1):c.1821+1G>CSNV Pathogenic 649147 17:48270354-48270354 17:50192993-50192993
19 COL1A1 NM_000088.3(COL1A1):c.4171C>T (p.Gln1391Ter)SNV Pathogenic 691323 17:48263216-48263216 17:50185855-50185855
20 COL1A1 NM_000088.3(COL1A1):c.3421del (p.Arg1141fs)deletion Pathogenic 691330 17:48264847-48264847 17:50187486-50187486
21 COL1A1 NM_000088.3(COL1A1):c.1843G>T (p.Glu615Ter)SNV Pathogenic 691328 17:48270190-48270190 17:50192829-50192829
22 COL1A1 NM_000088.3(COL1A1):c.1492del (p.Ala498fs)deletion Pathogenic 691324 17:48271957-48271957 17:50194596-50194596
23 COL1A1 NM_000088.3(COL1A1):c.1001del (p.Pro334fs)deletion Pathogenic 691321 17:48273517-48273517 17:50196156-50196156
24 COL1A1 NM_000088.3(COL1A1):c.4248+1G>ASNV Pathogenic 691331 rs111953130 17:48263138-48263138 17:50185777-50185777
25 COL1A1 NM_000088.3(COL1A1):c.2667+1G>CSNV Pathogenic 691318 17:48267039-48267039 17:50189678-50189678
26 COL1A1 NM_000088.3(COL1A1):c.1516-1G>CSNV Pathogenic 691327 17:48271809-48271809 17:50194448-50194448
27 COL1A1 NM_000088.3(COL1A1):c.4003C>T (p.Gln1335Ter)SNV Pathogenic 692199 17:48263680-48263680 17:50186319-50186319
28 COL1A1 NM_000088.4(COL1A1):c.1201-1G>ASNV Pathogenic 800565 17:48272692-48272692 17:50195331-50195331
29 COL1A1 NM_000088.4(COL1A1):c.1922G>T (p.Gly641Val)SNV Pathogenic 812584 17:48270008-48270008 17:50192647-50192647
30 COL1A2 COL1A2, DEL 7EX, CODONS 586-765deletion Pathogenic 17238 7:94048198-94052613 7:94418886-94423301
31 COL1A2 NM_000089.3(COL1A2):c.2720G>A (p.Gly907Asp)SNV Pathogenic 17239 rs121912900 7:94054475-94054475 7:94425163-94425163
32 COL1A2 COL1A2, EX33DELdeletion Pathogenic 17240
33 COL1A2 NM_000089.3(COL1A2):c.1640G>A (p.Gly547Asp)SNV Pathogenic 17241 rs121912901 7:94043234-94043234 7:94413922-94413922
34 COL1A2 NM_000089.3(COL1A2):c.2593G>A (p.Gly865Ser)SNV Pathogenic 17242 rs121912902 7:94053675-94053675 7:94424363-94424363
35 COL1A2 COL1A2, GLY976ASPundetermined variant Pathogenic 17245
36 COL1A2 NM_000089.3(COL1A2):c.2414G>A (p.Gly805Asp)SNV Pathogenic 17246 rs121912904 7:94052279-94052279 7:94422967-94422967
37 COL1A2 COL1A2, EX28DELdeletion Pathogenic 17248
38 COL1A2 NM_000089.3(COL1A2):c.1414G>T (p.Gly472Cys)SNV Pathogenic 17249 rs121912906 7:94041905-94041905 7:94412593-94412593
39 COL1A2 NM_000089.4(COL1A2):c.2025+5G>ASNV Pathogenic 17252 7:94047869-94047869 7:94418557-94418557
40 COL1A2 NM_000089.3(COL1A2):c.2080G>C (p.Gly694Arg)SNV Pathogenic 17254 rs121912908 7:94049545-94049545 7:94420233-94420233
41 COL1A2 NM_000089.3(COL1A2):c.1739G>A (p.Gly580Asp)SNV Pathogenic 17257 rs121912909 7:94044557-94044557 7:94415245-94415245
42 COL1A2 NM_000089.3(COL1A2):c.1504G>A (p.Gly502Ser)SNV Pathogenic 17262 rs121912910 7:94042395-94042395 7:94413083-94413083
43 COL1A2 NM_000089.3(COL1A2):c.1262G>A (p.Gly421Asp)SNV Pathogenic 17281 rs267606741 7:94040378-94040378 7:94411066-94411066
44 COL1A1 NM_000088.3(COL1A1):c.824G>A (p.Gly275Asp)SNV Pathogenic 17284 rs72645333 17:48274012-48274012 17:50196651-50196651
45 COL1A1 NM_000088.3(COL1A1):c.1705G>C (p.Gly569Arg)SNV Pathogenic 17287 rs72648363 17:48271366-48271366 17:50194005-50194005
46 COL1A1 NM_000088.3(COL1A1):c.2210G>A (p.Gly737Asp)SNV Pathogenic 17289 rs72651651 17:48268769-48268769 17:50191408-50191408
47 COL1A1 NM_000088.3(COL1A1):c.2552G>A (p.Gly851Asp)SNV Pathogenic 17290 rs72653137 17:48267369-48267369 17:50190008-50190008
48 COL1A1 NM_000088.3(COL1A1):c.2533G>A (p.Gly845Arg)SNV Pathogenic 17291 rs72653136 17:48267388-48267388 17:50190027-50190027
49 COL1A1 NM_000088.3(COL1A1):c.2605G>T (p.Gly869Cys)SNV Pathogenic 17292 rs72653143 17:48267228-48267228 17:50189867-50189867
50 COL1A1 NM_000088.3(COL1A1):c.2686G>T (p.Gly896Cys)SNV Pathogenic 17293 rs72653152 17:48266881-48266881 17:50189520-50189520

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 22)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.85 IBSP FGFR3 CREB3L1 COL2A1 COL1A2 COL1A1
2
Show member pathways
12.75 IBSP COL3A1 COL2A1 COL1A2 COL1A1
3
Show member pathways
12.68 P3H1 CRTAP COL3A1 COL2A1 COL1A2 COL1A1
4
Show member pathways
11.99 IBSP DSPP COL2A1 COL1A2 COL1A1 CD36
5
Show member pathways
11.98 SPARC P3H1 IBSP DSPP DCN CRTAP
6 11.87 COL3A1 COL1A2 COL1A1
7 11.8 SPARC COL3A1 COL1A1
8 11.79 PTH1R CREB3L1 BGLAP
9
Show member pathways
11.78 SPARC COL3A1 COL1A2 COL1A1 CD36
10 11.76 COL3A1 COL1A2 COL1A1
11 11.74 COL3A1 COL1A2 COL1A1
12 11.74 SPARC DCN COL2A1 BGLAP
13 11.54 PTH1R FGFR3 COL2A1
14 11.49 SPARC IBSP DSPP DCN
15 11.44 SPARC COL3A1 COL2A1 COL1A2 COL1A1
16 11.41 COL3A1 COL1A2 COL1A1 CD36
17 11.35 PTH1R COL1A1 BGLAP
18 11.22 DCN COL1A2 BGLAP
19 11.19 COL3A1 COL1A2 COL1A1
20 10.94 PTH1R IBSP COL1A2 COL1A1 BGLAP
21 10.86 FGFR3 COL3A1 COL2A1 COL1A2 COL1A1
22 10.6 PTH1R IBSP COL1A1 BGLAP

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 10.11 SPARC SERPINF1 IBSP DCN CRTAP COL3A1
2 extracellular region GO:0005576 10.07 SPARC SERPINF1 P3H1 IBSP FGFR3 DSPP
3 endoplasmic reticulum GO:0005783 10.03 P3H1 MIA2 FKBP10 FGFR3 CRTAP CREB3L1
4 collagen trimer GO:0005581 9.72 COL3A1 COL2A1 COL1A2 COL1A1 CD36
5 extracellular matrix GO:0031012 9.7 SPARC DSPP DCN COL3A1 COL2A1 COL1A2
6 basement membrane GO:0005604 9.63 SPARC SERPINF1 COL2A1
7 collagen-containing extracellular matrix GO:0062023 9.56 SPARC SERPINF1 P3H1 DCN COL3A1 COL2A1
8 platelet alpha granule membrane GO:0031092 9.48 SPARC CD36
9 collagen type I trimer GO:0005584 9.4 COL1A2 COL1A1
10 endoplasmic reticulum lumen GO:0005788 9.23 P3H1 FKBP10 CRTAP COL3A1 COL2A1 COL1A2

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

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 regulation of immune response GO:0050776 9.89 COL3A1 COL2A1 COL1A2 COL1A1
2 extracellular matrix organization GO:0030198 9.86 SPARC IBSP DSPP DCN COL3A1 COL2A1
3 aging GO:0007568 9.85 SERPINF1 PTH1R DCN BGLAP
4 platelet activation GO:0030168 9.79 COL3A1 COL1A2 COL1A1
5 cellular response to growth factor stimulus GO:0071363 9.76 SPARC IBSP BGLAP
6 osteoblast differentiation GO:0001649 9.76 IBSP CREB3L1 COL1A1 BGLAP
7 blood vessel development GO:0001568 9.74 COL3A1 COL1A2 COL1A1
8 cellular response to amino acid stimulus GO:0071230 9.73 COL3A1 COL1A2 COL1A1
9 wound healing GO:0042060 9.73 SPARC DCN COL3A1 COL1A1
10 collagen fibril organization GO:0030199 9.72 CRTAP COL3A1 COL2A1 COL1A2 COL1A1
11 response to mechanical stimulus GO:0009612 9.71 DCN COL3A1 COL1A1 BGLAP
12 chondrocyte differentiation GO:0002062 9.7 PTH1R FGFR3 COL2A1
13 ossification GO:0001503 9.7 SPARC PTH1R IBSP DSPP COL2A1 COL1A1
14 biomineral tissue development GO:0031214 9.69 IBSP DSPP BGLAP
15 bone development GO:0060348 9.67 SPARC P3H1 COL2A1 BGLAP
16 endochondral ossification GO:0001958 9.65 FGFR3 COL2A1 COL1A1
17 osteoblast development GO:0002076 9.62 PTH1R BGLAP
18 collagen metabolic process GO:0032963 9.61 P3H1 COL1A2
19 skin morphogenesis GO:0043589 9.6 COL1A2 COL1A1
20 response to gravity GO:0009629 9.58 SPARC BGLAP
21 cartilage development involved in endochondral bone morphogenesis GO:0060351 9.54 COL2A1 COL1A1
22 negative regulation of post-translational protein modification GO:1901874 9.49 P3H1 CRTAP
23 bone mineralization GO:0030282 9.43 PTH1R IFITM5 IBSP FGFR3 COL1A2 BGLAP
24 skeletal system development GO:0001501 9.23 PTH1R FGFR3 DSPP COL3A1 COL2A1 COL1A2

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.56 COL3A1 COL2A1 COL1A2 COL1A1
2 collagen binding GO:0005518 9.55 SPARC P3H1 DSPP DCN CRTAP
3 protease binding GO:0002020 9.54 COL3A1 COL1A2 COL1A1
4 SMAD binding GO:0046332 9.5 CREB3L1 COL3A1 COL1A2
5 extracellular matrix structural constituent GO:0005201 9.43 SPARC DSPP COL3A1 COL2A1 COL1A2 COL1A1
6 platelet-derived growth factor binding GO:0048407 8.92 COL3A1 COL2A1 COL1A2 COL1A1

Sources for Brittle Bone Disorder

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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