OI
MCID: BRT054
MIFTS: 74

Brittle Bone Disorder (OI)

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Brittle Bone Disorder

MalaCards integrated aliases for Brittle Bone Disorder:

Name: Brittle Bone Disorder 57 29 71
Osteogenesis Imperfecta 12 74 20 43 58 36 29 54 6 42 44 15 39 71 32
Brittle Bone Disease 12 74 20 43 58
Fragilitas Ossium 12 20 43
Osteopsathyrosis 12 20 58
Lobstein Disease 74 20 58
Oi 20 43 58
Porak and Durante Disease 20 58
Lobstein's Disease 6 71
Vrolik Disease 20 43
Osteogenesis Imperfecta, Recessive Perinatal Lethal 71
Osteogenesis Imperfecta, Dominant Perinatal Lethal 71
Lobstein's Syndrome 12
Glass Bone Disease 58
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

MedlinePlus Genetics : 43 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 ii and osteogenesis imperfecta, type i, 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 Alendronate have been mentioned in the context of this disorder. Affiliated tissues include bone, eye and skin, and related phenotypes are carious teeth and pectus carinatum

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.

GARD : 20 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 529)
# Related Disease Score Top Affiliating Genes
1 osteogenesis imperfecta, type ii 34.1 P3H1 FKBP10 COL1A2 COL1A1
2 osteogenesis imperfecta, type i 34.0 COL1A2 COL1A1 BGLAP
3 osteogenesis imperfecta, type iii 34.0 WNT1 SLC34A1 SERPINH1 SERPINF1 P3H1 FKBP10
4 osteogenesis imperfecta, type iv 33.9 WNT1 TMEM38B SPARC SP7 SERPINF1 P3H1
5 osteogenesis imperfecta, type vi 33.9 SERPINF1 IBSP COL1A1
6 osteogenesis imperfecta, type vii 33.8 P3H1 COL1A2 COL1A1 BGLAP
7 osteogenesis imperfecta, type v 33.8 COL1A2 COL1A1
8 osteogenesis imperfecta, type xii 33.7 SP7 SERPINF1 FKBP10
9 osteogenesis imperfecta, type x 33.7 SERPINH1 LOC116216154
10 dentinogenesis imperfecta 33.6 WNT1 TMEM38B SPARC SP7 SERPINH1 SERPINF1
11 osteogenesis imperfecta, type xv 33.6 WNT10B WNT1
12 bruck syndrome 33.5 TMEM38B SERPINH1 SERPINF1 P3H1 FKBP10 COL1A2
13 cole-carpenter syndrome 33.1 TMEM38B SERPINF1 P3H1 CREB3L1 COL1A2
14 high bone mass osteogenesis imperfecta 32.9 COL1A2 COL1A1 BMP1
15 col1a1/2 osteogenesis imperfecta 32.9 COL1A2 COL1A1
16 bone disease 32.9 SPARC SP7 IBSP COL2A1 COL1A1 BGLAP
17 connective tissue disease 32.8 SERPINH1 P3H1 IBSP DSPP COL3A1 COL2A1
18 osteoporosis, juvenile 32.7 WNT1 SPARC SP7 COL1A2 COL1A1 BGLAP
19 ehlers-danlos/osteogenesis imperfecta syndrome 32.6 COL1A2 COL1A1
20 dentin dysplasia, type ii 32.4 IBSP DSPP
21 scoliosis 32.3 FKBP10 COL2A1 COL1A2 COL1A1 BGLAP
22 bone resorption disease 32.1 SP7 IBSP COL1A2 COL1A1 BGLAP
23 otosclerosis 31.9 SERPINF1 COL1A2 COL1A1
24 osteoporosis 31.9 WNT1 SPARC SP7 SLC34A1 P3H1 IBSP
25 osteogenic sarcoma 31.8 SPARC SP7 IBSP BMP1 BGLAP
26 rickets 31.7 SLC34A1 IBSP DSPP BGLAP
27 odontochondrodysplasia 31.3 WNT1 TMEM38B SPARC SP7 SERPINH1 SERPINF1
28 fibrous dysplasia 31.3 SPARC IBSP BGLAP
29 hyperostosis 31.3 COL1A2 COL1A1 BMP1
30 marfan syndrome 31.3 COL3A1 COL2A1 COL1A2 COL1A1
31 sclerosteosis 31.3 SP7 COL1A1 BGLAP
32 achondroplasia 31.2 COL2A1 COL1A1 BGLAP
33 ankylosis 31.2 SP7 IBSP BGLAP
34 paget's disease of bone 31.1 SPARC IBSP BGLAP
35 collagen disease 31.0 COL3A1 COL2A1 COL1A2 COL1A1
36 cleidocranial dysplasia 30.9 SP7 IBSP BGLAP
37 hypophosphatemia 30.9 SLC34A1 DSPP BGLAP
38 stickler syndrome 30.9 COL2A1 COL1A2 COL1A1
39 myositis ossificans 30.8 SPARC COL1A1 BMP1 BGLAP
40 van buchem disease 30.8 WNT10B WNT1 SP7 COL1A1 BGLAP
41 hypophosphatemic rickets, x-linked dominant 30.7 SLC34A1 IBSP DSPP BGLAP
42 ehlers-danlos syndrome, arthrochalasia type, 2 30.7 COL1A2 COL1A1
43 osteogenesis imperfecta, type ix 11.9
44 osteogenesis imperfecta, type viii 11.9
45 osteogenesis imperfecta, type xi 11.9
46 osteogenesis imperfecta, type xiii 11.9
47 osteogenesis imperfecta, type xiv 11.9
48 osteogenesis imperfecta, type xx 11.8
49 osteogenesis imperfecta, type xvi 11.8
50 osteogenesis imperfecta, type xvii 11.8

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 carious teeth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000670
2 pectus carinatum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000768
3 brachycephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000248
4 abnormality of the metaphysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000944
5 prominent occiput 58 31 hallmark (90%) Very frequent (99-80%) HP:0000269
6 diaphyseal thickening 58 31 hallmark (90%) Very frequent (99-80%) HP:0005019
7 intrauterine growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001511
8 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
9 abnormality of tibia morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0002992
10 abnormality of dental enamel 58 31 hallmark (90%) Very frequent (99-80%) HP:0000682
11 convex nasal ridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000444
12 abnormality of dental color 58 31 hallmark (90%) Very frequent (99-80%) HP:0011073
13 decreased skull ossification 58 31 hallmark (90%) Very frequent (99-80%) HP:0004331
14 thin ribs 58 31 hallmark (90%) Very frequent (99-80%) HP:0000883
15 mixed hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000410
16 hyperhidrosis 58 31 frequent (33%) Frequent (79-30%) HP:0000975
17 osteopenia 58 31 frequent (33%) Frequent (79-30%) HP:0000938
18 corneal opacity 58 31 frequent (33%) Frequent (79-30%) HP:0007957
19 dental malocclusion 58 31 frequent (33%) Frequent (79-30%) HP:0000689
20 abnormal cortical bone morphology 58 31 frequent (33%) Frequent (79-30%) HP:0003103
21 visual impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000505
22 genu valgum 58 31 frequent (33%) Frequent (79-30%) HP:0002857
23 osteoporosis 58 31 frequent (33%) Frequent (79-30%) HP:0000939
24 slender long bone 58 31 frequent (33%) Frequent (79-30%) HP:0003100
25 glaucoma 58 31 frequent (33%) Frequent (79-30%) HP:0000501
26 hypercalciuria 58 31 frequent (33%) Frequent (79-30%) HP:0002150
27 joint hyperflexibility 58 31 frequent (33%) Frequent (79-30%) HP:0005692
28 large fontanelles 58 31 frequent (33%) Frequent (79-30%) HP:0000239
29 narrow chest 58 31 frequent (33%) Frequent (79-30%) HP:0000774
30 blue sclerae 58 31 frequent (33%) Frequent (79-30%) HP:0000592
31 bone pain 58 31 frequent (33%) Frequent (79-30%) HP:0002653
32 dentinogenesis imperfecta 58 31 frequent (33%) Frequent (79-30%) HP:0000703
33 femoral bowing 58 31 frequent (33%) Frequent (79-30%) HP:0002980
34 biconcave vertebral bodies 58 31 frequent (33%) Frequent (79-30%) HP:0004586
35 cutis laxa 58 31 frequent (33%) Frequent (79-30%) HP:0000973
36 enlarged vertebral pedicles 58 31 frequent (33%) Frequent (79-30%) HP:0004621
37 fractures of the long bones 58 31 frequent (33%) Frequent (79-30%) HP:0003084
38 loss of ability to walk 58 31 frequent (33%) Frequent (79-30%) HP:0006957
39 multiple rib fractures 58 31 frequent (33%) Frequent (79-30%) HP:0006640
40 progressive hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0001730
41 vertebral compression fractures 58 31 frequent (33%) Frequent (79-30%) HP:0002953
42 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
43 dysphagia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002015
44 constipation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002019
45 inguinal hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000023
46 umbilical hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001537
47 flexion contracture 58 31 occasional (7.5%) Occasional (29-5%) HP:0001371
48 pectus excavatum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000767
49 thrombocytopenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001873
50 arthralgia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002829

Clinical features from OMIM®:

603828 (Updated 05-Mar-2021)

UMLS symptoms related to Brittle Bone Disorder:


back pain, sciatica, muscle cramp

MGI Mouse Phenotypes related to Brittle Bone Disorder:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.2 BGLAP BMP1 COL1A1 COL1A2 COL2A1 COL3A1
2 cardiovascular system MP:0005385 10.16 BMP1 COL1A1 COL1A2 COL2A1 COL3A1 FKBP10
3 hematopoietic system MP:0005397 10.11 BGLAP BMP1 COL1A1 COL1A2 COL3A1 CREB3L1
4 adipose tissue MP:0005375 10.08 BGLAP BMP1 COL1A1 COL1A2 COL2A1 COL3A1
5 craniofacial MP:0005382 10.03 BMP1 COL1A1 COL2A1 FKBP10 IBSP SERPINH1
6 digestive/alimentary MP:0005381 10.01 BMP1 COL1A1 COL2A1 COL3A1 IBSP SERPINF1
7 limbs/digits/tail MP:0005371 9.96 BMP1 COL1A1 COL1A2 COL2A1 FKBP10 IBSP
8 muscle MP:0005369 9.81 BMP1 COL1A1 COL1A2 COL3A1 P3H1 SLC34A1
9 skeleton MP:0005390 9.53 BGLAP BMP1 COL1A1 COL1A2 COL2A1 CREB3L1
10 respiratory system MP:0005388 9.5 COL1A1 COL2A1 COL3A1 SERPINH1 SP7 TMEM38B

Drugs & Therapeutics for Brittle Bone Disorder

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

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

Interventional clinical trials:

(show top 50) (show all 54)
# Name Status NCT ID Phase Drugs
1 Effect of High-Dose Vitamin D on Bone Density in Osteogenesis Imperfecta Completed NCT01713231 Phase 4
2 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
3 Bisphosphonate Therapy for Osteogenesis Imperfecta Completed NCT00159419 Phase 4 Alendronate;Pamidronate
4 Efficacy and Safety of Alendronate in Chinese Children or Adolescents With Osteogenesis Imperfecta: an Age Stratified Prospective Study Completed NCT02303873 Phase 4 Alendronate
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 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 Studies of Growth Deficiency and Growth Hormone Treatment in Children With Osteogenesis Imperfecta Types III and IV Completed NCT00001305 Phase 3 Humatrope
10 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
11 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 Recruiting NCT03638128 Phase 3 Denosumab
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 Active, not recruiting NCT02352753 Phase 3 Denosumab
13 Bisphosphonate Treatment of Osteogenesis Imperfecta Completed NCT00063479 Phase 2 Zoledronic Acid
14 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
15 TRANSLATIONAL THERAPY IN PATIENTS WITH OSTEOGENESIS IMPERFECTA - A PILOT TRIAL ON TREATMENT WITH THE RANKL-ANTIBODY DENOSUMAB Completed NCT01799798 Phase 2 Denosumab
16 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
17 Efficacy and Safety of Zoledronic Acid in Children (1 -17 Years) With Severe Osteogenesis Imperfecta Completed NCT00131118 Phase 2 Zoledronic Acid
18 Do Bisphosphonates Alter the Skeletal Response to Mechanical Stimulation in Children With Osteogenesis Imperfecta? Completed NCT03208582 Phase 2 Risedronate Sodium
19 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 Recruiting NCT04623606 Phase 1, Phase 2
20 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
21 The Effect of Treatment With Teriparatide and Zoledronic Acid in Patients With Osteogenesis Imperfecta Active, not recruiting NCT01679080 Phase 2 Zoledronic acid;Teriparatide
22 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
23 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
24 Mesenchymal Stem Cell Based Therapy for the Treatment of Osteogenesis Imperfecta Completed NCT02172885 Phase 1
25 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
26 Treatment of Severe (Types II and III) Osteogenesis Imperfecta by Allogeneic Bone Marrow Transplantation Completed NCT00705120 Phase 1 Cyclophosphamide;Cyclosporin;Busulfan
27 An Open-label, Ascending Multiple-dose Study to Evaluate Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of Romosozumab in Children and Adolescents With Osteogenesis Imperfecta Recruiting NCT04545554 Phase 1 Romosozumab
28 Multicenter Study to Evaluate Safety of Fresolimumab in Adults With Moderate-to-severe Osteogenesis Imperfecta Recruiting NCT03064074 Phase 1 Fresolimumab
29 Preventive Fixation of Lower Limbs in Osteogenesis Imperfecta (Brittle Bone Disease) With the Highlight of the Fassier-Duval Unknown status NCT02868294
30 Molecular Genetic Study of Suspected Cases of Osteogenesis Imperfecta Attending Assiut University Children Hospital Unknown status NCT03169192 Zoledronic Acid
31 Calcium Intake Improvement After Nutritional Intervention in Pediatric Patients With Osteogenesis Imperfecta Completed NCT03841188
32 Rare Diseases Clinical Research Network Brittle Bone Disorders Consortium Osteogenesis Imperfecta (OI) Quality of Life Survey Pilot Project 2 Completed NCT02793063
33 High Resolution Thermal Imaging to Identify Vertebral Fractures in Children and Young People With Osteogenesis Imperfecta Completed NCT04231916
34 Marrow Mesenchymal Cell Therapy for Osteogenesis Imperfecta: A Pilot Study Completed NCT00187018
35 Evaluation and Intervention for Ambulation, Growth, and Basilar Invagination in Osteogenesis Imperfecta Completed NCT00001594
36 Pregnancy in Osteogenesis Imperfecta (OI) Registry Completed NCT03072303
37 Whole Body Vibration as an Osteogenic Treatment for Children With Osteogenesis Imperfecta With Limited Mobility: A Randomised Controlled Pilot Trial Completed NCT03029312
38 NGS Strategy Effectiveness in Molecular Diagnosis Completed NCT03557567
39 Trial of Lithium Carbonate for Treatment of Osteoporosis Pseudoglioma Syndrome Completed NCT01108068 Lithium
40 Prevention of Post Operative Bone Loss in Children Completed NCT00655681 pamidronate
41 Evaluation of the Benefits of Adaptive Physical Activity in Children and Adolescents With Osteogenesis Imperfecta Recruiting NCT04119388
42 Rare Diseases Clinical Research Network Brittle Bone Disease Consortium Longitudinal Study of Osteogenesis Imperfecta Recruiting NCT02432625
43 Results of A Surgical Technique for Additional Proximal and Distal Locking for Fassier-Duval Telescoping Nail; A Comparative Study Recruiting NCT04694144
44 A Natural History of the Collagen-Related Disorder Osteogenesis Imperfecta and the Genotype-Phenotype Correlation Recruiting NCT03575221
45 Non-invasive Blood Pressuring Monitoring in Patients With Osteogenesis Imperfecta: Does Circumferential Cuff Pressure Result in Fractures? Recruiting NCT04169568
46 Epigenetic Regulation of Osteogenesis Imperfecta Severity : miROI Study Recruiting NCT04009733
47 Investigations of Bone-Related Connective Tissue Disorders Recruiting NCT00076830
48 Experimental Evaluation of Back Braces for the Treatment of Spinal Deformity Produced With 3D Printing Technology Recruiting NCT04282408
49 Cross-Linked Collagen Peptides as a Urinary Biomarker of OI Pathobiology Active, not recruiting NCT02531087
50 Dental Malocclusion and Craniofacial Development in OI Active, not recruiting NCT02934451

Search NIH Clinical Center for Brittle Bone Disorder

Inferred drug relations via UMLS 71 / NDF-RT 51 :


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

Publications for Brittle Bone Disorder

Articles related to Brittle Bone Disorder:

(show top 50) (show all 4859)
# Title Authors PMID Year
1
Osteogenesis imperfecta: clinical, biochemical and molecular findings. 61 54 6
16879195 2006
2
Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients. 54 61 6
15241796 2004
3
Genetic and biochemical analyses of Israeli osteogenesis imperfecta patients. 6 54 61
15024745 2004
4
Thirty-three novel COL1A1 and COL1A2 mutations in patients with osteogenesis imperfecta types I-IV. 6 54 61
11317364 2001
5
Prenatal diagnosis of a novel COL1A1 mutation in osteogenesis imperfecta type I carried through full term pregnancy. 61 6 54
11113887 2000
6
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 6 54
10417276 1999
7
An alpha2(I) glycine to aspartate substitution is responsible for the presence of a kink in type I collagen in a lethal case of osteogenesis imperfecta. 61 54 6
9923651 1998
8
(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
9
Two new recurrent nucleotide mutations in the COL1A1 gene in four patients with osteogenesis imperfecta: about one-fifth are recurrent. 54 61 6
9067755 1997
10
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
11
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. 54 61 6
8786074 1996
12
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. 54 61 6
8829655 1996
13
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. 54 6 61
8723681 1996
14
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
15
Recurrence of osteogenesis imperfecta because of paternal mosaicism: Gly862-->Ser substitution in a type I collagen gene (COL1A1). 61 54 6
7789952 1995
16
Three unrelated individuals with perinatally lethal osteogenesis imperfecta resulting from identical Gly502Ser substitutions in the alpha 2-chain of type I collagen. 61 6 54
7959683 1994
17
Defective splicing of mRNA from one COL1A1 allele of type I collagen in nondeforming (type I) osteogenesis imperfecta. 6 54 61
8408653 1993
18
Osteogenesis imperfecta type III: mutations in the type I collagen structural genes, COL1A1 and COL1A2, are not necessarily responsible. 54 61 6
8100856 1993
19
A single amino acid deletion in the alpha 2(I) chain of type I collagen produces osteogenesis imperfecta type III. 61 54 6
8444468 1993
20
Paternal mosaicism for a COL1A1 dominant mutation (alpha 1 Ser-415) causes recurrent osteogenesis imperfecta. 6 61 54
8364588 1993
21
Homology-mediated recombination between type I collagen gene exons results in an internal tandem duplication and lethal osteogenesis imperfecta. 54 61 6
8097422 1993
22
Moderately severe osteogenesis imperfecta associated with substitutions of serine for glycine in the alpha 1(I) chain of type I collagen. 54 61 6
8456809 1993
23
A dominant mutation in the COL1A1 gene that substitutes glycine for valine causes recurrent lethal osteogenesis imperfecta. 54 61 6
1511982 1992
24
The clinicopathological features of three babies with osteogenesis imperfecta resulting from the substitution of glycine by valine in the pro alpha 1 (I) chain of type I procollagen. 6 54 61
1613761 1992
25
Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a mutation in the COL1A2 gene of type I collagen. The mosaic parent exhibits phenotypic features of a mild form of the disease. 6 54 61
1301191 1992
26
A 9-base pair deletion in COL1A1 in a lethal variant of osteogenesis imperfecta. 6 54 61
1939261 1991
27
A single base mutation in type I procollagen (COL1A1) that converts glycine alpha 1-541 to aspartate in a lethal variant of osteogenesis imperfecta: detection of the mutation with a carbodiimide reaction of DNA heteroduplexes and direct sequencing of products of the PCR. 6 54 61
2035536 1991
28
Heterozygous mutation in the G+5 position of intron 33 of the pro-alpha 2(I) gene (COL1A2) that causes aberrant RNA splicing and lethal osteogenesis imperfecta. Use of carbodiimide methods that decrease the extent of DNA sequencing necessary to define an unusual mutation. 6 54 61
1711048 1991
29
Osteogenesis imperfecta due to recurrent point mutations at CpG dinucleotides in the COL1A1 gene of type I collagen. 6 61 54
2037280 1991
30
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. 61 54 6
1988452 1991
31
Phenotypic heterogeneity in osteogenesis imperfecta: the mildly affected mother of a proband with a lethal variant has the same mutation substituting cysteine for alpha 1-glycine 904 in a type I procollagen gene (COL1A1). 61 54 6
2220807 1990
32
Variable expression of osteogenesis imperfecta in a nuclear family is explained by somatic mosaicism for a lethal point mutation in the alpha 1(I) gene (COL1A1) of type I collagen in a parent. 54 6 61
2339700 1990
33
Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a dominant mutation in a human type I collagen gene (COL1A1). 6 61 54
2309707 1990
34
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 54 61
2295701 1990
35
A homozygous pathogenic missense variant broadens the phenotypic and mutational spectrum of CREB3L1-related osteogenesis imperfecta. 6 61
30657919 2019
36
Homozygosity for CREB3L1 premature stop codon in first case of recessive osteogenesis imperfecta associated with OASIS-deficiency to survive infancy. 61 6
29936144 2018
37
Novel variant in Sp7/Osx associated with recessive osteogenesis imperfecta with bone fragility and hearing impairment. 61 6
29382611 2018
38
Monoallelic and biallelic CREB3L1 variant causes mild and severe osteogenesis imperfecta, respectively. 6 61
28817112 2018
39
Tissue-specific mosaicism for a lethal osteogenesis imperfecta COL1A1 mutation causes mild OI/EDS overlap syndrome. 6 61
28261977 2017
40
Recessive osteogenesis imperfecta caused by missense mutations in SPARC. 61 6
26027498 2015
41
HSP47 and FKBP65 cooperate in the synthesis of type I procollagen. 61 6
25510505 2015
42
Identification and in vivo functional characterization of novel compound heterozygous BMP1 variants in osteogenesis imperfecta. 61 6
25402547 2015
43
Novel Deletion of SERPINF1 Causes Autosomal Recessive Osteogenesis Imperfecta Type VI in Two Brazilian Families. 61 6
25565926 2014
44
Report of a newly indentified patient with mutations in BMP1 and underlying pathogenetic aspects. 6 61
24648371 2014
45
Mutations in WNT1 are a cause of osteogenesis imperfecta. 61 6
23434763 2013
46
Mutations in WNT1 cause different forms of bone fragility. 61 6
23499309 2013
47
WNT1 mutations in families affected by moderately severe and progressive recessive osteogenesis imperfecta. 6 61
23499310 2013
48
A deletion mutation in TMEM38B associated with autosomal recessive osteogenesis imperfecta. 61 6
23316006 2013
49
Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen. 6 61
22949511 2013
50
Absence of FKBP10 in recessive type XI osteogenesis imperfecta leads to diminished collagen cross-linking and reduced collagen deposition in extracellular matrix. 61 6
22718341 2012

Variations for Brittle Bone Disorder

ClinVar genetic disease variations for Brittle Bone Disorder:

6 (show top 50) (show all 1749)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 WNT1 NM_005430.4(WNT1):c.624+4A>G SNV Pathogenic 50258 rs387907354 12:49374476-49374476 12:48980693-48980693
2 WNT1 NM_005430.4(WNT1):c.565G>T (p.Glu189Ter) SNV Pathogenic 50259 rs387907355 12:49374413-49374413 12:48980630-48980630
3 WNT1 NM_005430.4(WNT1):c.1063G>T (p.Val355Phe) SNV Pathogenic 50262 rs387907358 12:49375373-49375373 12:48981590-48981590
4 WNT1 NM_005430.4(WNT1):c.1026del (p.Glu343fs) Deletion Pathogenic 180210 rs727505392 12:49375335-49375335 12:48981552-48981552
5 SPARC NM_003118.4(SPARC):c.787G>A (p.Glu263Lys) SNV Pathogenic 372141 rs1057517663 5:151043744-151043744 5:151664183-151664183
6 SPARC NM_003118.4(SPARC):c.497G>A (p.Arg166His) SNV Pathogenic 372140 rs1057517662 5:151047116-151047116 5:151667555-151667555
7 CREB3L1 NM_052854.4(CREB3L1):c.1284C>A (p.Tyr428Ter) SNV Pathogenic 559484 rs779809838 11:46341840-46341840 11:46320289-46320289
8 FKBP10 NM_021939.3(FKBP10):c.976del (p.Met326fs) Deletion Pathogenic 222952 rs869025223 17:39975840-39975840 17:41819588-41819588
9 BMP1 NM_006129.5(BMP1):c.747C>G (p.Phe249Leu) SNV Pathogenic 37306 rs398122891 8:22035381-22035381 8:22177868-22177868
10 BMP1 NM_006129.5(BMP1):c.34G>C (p.Gly12Arg) SNV Pathogenic 37307 rs318240762 8:22022952-22022952 8:22165439-22165439
11 WNT1 NM_005430.4(WNT1):c.859dup (p.His287fs) Duplication Pathogenic 50257 rs387907353 12:49375163-49375164 12:48981380-48981381
12 WNT1 NM_005430.4(WNT1):c.946_949dup (p.Ser317fs) Duplication Pathogenic 50261 rs387907357 12:49375255-49375256 12:48981472-48981473
13 BMP1 NM_006129.5(BMP1):c.2108-359T>C SNV Pathogenic 190231 rs786205217 8:22058957-22058957 8:22201444-22201444
14 BMP1 NM_006129.5(BMP1):c.2107G>C (p.Asp703His) SNV Pathogenic 190232 rs786205218 8:22054933-22054933 8:22197420-22197420
15 BMP1 NM_006129.5(BMP1):c.808A>G (p.Met270Val) SNV Pathogenic 190233 rs786205219 8:22035442-22035442 8:22177929-22177929
16 BMP1 NM_006129.5(BMP1):c.1297G>T (p.Ala433Ser) SNV Pathogenic 190234 rs786205220 8:22051687-22051687 8:22194174-22194174
17 COL1A2 NM_000089.3(COL1A2):c.2720G>A (p.Gly907Asp) SNV Pathogenic 17239 rs121912900 7:94054475-94054475 7:94425163-94425163
18 COL1A2 COL1A2, EX33DEL Deletion Pathogenic 17240
19 COL1A2 NM_000089.3(COL1A2):c.1640G>A (p.Gly547Asp) SNV Pathogenic 17241 rs121912901 7:94043234-94043234 7:94413922-94413922
20 COL1A2 NM_000089.3(COL1A2):c.2593G>A (p.Gly865Ser) SNV Pathogenic 17242 rs121912902 7:94053675-94053675 7:94424363-94424363
21 COL1A2 COL1A2, GLY976ASP Variation Pathogenic 17245
22 COL1A2 NM_000089.3(COL1A2):c.2414G>A (p.Gly805Asp) SNV Pathogenic 17246 rs121912904 7:94052279-94052279 7:94422967-94422967
23 COL1A2 COL1A2, EX28DEL Deletion Pathogenic 17248
24 COL1A2 NM_000089.3(COL1A2):c.1414G>T (p.Gly472Cys) SNV Pathogenic 17249 rs121912906 7:94041905-94041905 7:94412593-94412593
25 COL1A2 NM_000089.4(COL1A2):c.2025+5G>A SNV Pathogenic 17252 rs72658157 7:94047869-94047869 7:94418557-94418557
26 COL1A2 NM_000089.3(COL1A2):c.2080G>C (p.Gly694Arg) SNV Pathogenic 17254 rs121912908 7:94049545-94049545 7:94420233-94420233
27 COL1A2 NM_000089.3(COL1A2):c.1739G>A (p.Gly580Asp) SNV Pathogenic 17257 rs121912909 7:94044557-94044557 7:94415245-94415245
28 COL1A2 NM_000089.3(COL1A2):c.1504G>A (p.Gly502Ser) SNV Pathogenic 17262 rs121912910 7:94042395-94042395 7:94413083-94413083
29 COL1A1 COL1A1, EX15-16DUP Duplication Pathogenic 17325
30 COL1A1 NM_000088.3(COL1A1):c.2228G>T (p.Gly743Val) SNV Pathogenic 17327 rs72651653 17:48268751-48268751 17:50191390-50191390
31 COL1A1 NM_000088.3(COL1A1):c.1598G>A (p.Gly533Asp) SNV Pathogenic 17329 rs72648356 17:48271726-48271726 17:50194365-50194365
32 COL1A1 NM_000088.3(COL1A1):c.2291G>T (p.Gly764Val) SNV Pathogenic 17338 rs72651657 17:48268230-48268230 17:50190869-50190869
33 COL1A1 COL1A1, 9-BP DUP Duplication Pathogenic 17344
34 COL1A1 NM_000088.3(COL1A1):c.4247del (p.Thr1416fs) Deletion Pathogenic 41469 rs398122835 17:48263140-48263140 17:50185779-50185779
35 COL1A1 NM_000088.3(COL1A1):c.4160C>T (p.Ala1387Val) SNV Pathogenic 41470 rs397514672 17:48263227-48263227 17:50185866-50185866
36 CREB3L1 NM_052854.4(CREB3L1):c.911C>T (p.Ala304Val) SNV Pathogenic 982569 11:46334170-46334170 11:46312619-46312619
37 WNT1 NM_005430.4(WNT1):c.884C>A (p.Ser295Ter) SNV Pathogenic 50260 rs387907356 12:49375194-49375194 12:48981411-48981411
38 COL1A2 NM_000089.3(COL1A2):c.1216G>A (p.Gly406Ser) SNV Pathogenic 599144 rs72658108 7:94040219-94040219 7:94410907-94410907
39 COL1A1 NM_000088.4(COL1A1):c.1922G>T (p.Gly641Val) SNV Pathogenic 812584 rs1598293646 17:48270008-48270008 17:50192647-50192647
40 FKBP10 FKBP10, 33-BP DEL, NT321 Deletion Pathogenic 3532
41 FKBP10 NM_021939.3(FKBP10):c.831dup (p.Gly278fs) Duplication Pathogenic 438659 rs137853883 17:39975558-39975559 17:41819306-41819307
42 COL1A2 NM_000089.3(COL1A2):c.3034G>C (p.Gly1012Arg) SNV Pathogenic 17235 rs72659319 7:94055771-94055771 7:94426459-94426459
43 COL1A2 NM_000089.3(COL1A2):c.4001_4004del Deletion Pathogenic 17236 rs72659345 7:94059603-94059606 7:94430291-94430294
44 COL1A2 NM_000089.3(COL1A2):c.1936G>T (p.Gly646Cys) SNV Pathogenic 17243 rs121912903 7:94047108-94047108 7:94417796-94417796
45 COL1A2 COL1A2, EX26DEL Deletion Pathogenic 17244
46 COL1A2 NM_000089.3(COL1A2):c.775G>T (p.Gly259Cys) SNV Pathogenic 17247 rs121912905 7:94038118-94038118 7:94408806-94408806
47 COL1A2 NM_000089.3(COL1A2):c.1757G>T (p.Gly586Val) SNV Pathogenic 17253 rs121912907 7:94044575-94044575 7:94415263-94415263
48 COL1A2 NM_000089.3(COL1A2):c.1757G>T (p.Gly586Val) SNV Pathogenic 17253 rs121912907 7:94044575-94044575 7:94415263-94415263
49 COL1A2 COL1A2, VAL255DEL Deletion Pathogenic 17259
50 COL1A2 NM_000089.3(COL1A2):c.2575G>A (p.Gly859Ser) SNV Pathogenic 17261 rs72658200 7:94053657-94053657 7:94424345-94424345

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 20)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.81 WNT10B WNT1 IBSP CREB3L1 COL2A1 COL1A2
2
Show member pathways
12.73 IBSP COL3A1 COL2A1 COL1A2 COL1A1
3
Show member pathways
12.6 SERPINH1 P3H1 COL3A1 COL2A1 COL1A2 COL1A1
4 12.14 WNT10B WNT1 COL1A2 COL1A1
5
Show member pathways
11.98 SPARC SERPINH1 P3H1 IBSP DSPP COL3A1
6
Show member pathways
11.96 IBSP DSPP COL2A1 COL1A2 COL1A1
7 11.86 COL3A1 COL1A2 COL1A1
8 11.79 SPARC COL3A1 COL1A1
9 11.78 SLC34A1 CREB3L1 BGLAP
10
Show member pathways
11.77 SPARC COL3A1 COL1A2 COL1A1
11 11.74 COL3A1 COL1A2 COL1A1
12 11.72 COL3A1 COL1A2 COL1A1
13 11.53 WNT10B SPARC SP7 COL2A1 BGLAP
14 11.44 SPARC IBSP DSPP
15 11.38 COL3A1 COL1A2 COL1A1
16 11.17 COL3A1 COL1A2 COL1A1
17 11.15 IBSP COL1A2 COL1A1 BGLAP
18 11.14 SPARC COL3A1 COL2A1 COL1A2 COL1A1
19 10.84 COL3A1 COL2A1 COL1A2 COL1A1 BMP1
20 10.73 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 region GO:0005576 10.07 WNT10B WNT1 SPARC SERPINF1 P3H1 IBSP
2 endoplasmic reticulum GO:0005783 10.02 TMEM38B SERPINH1 P3H1 FKBP10 CREB3L1 COL1A2
3 extracellular space GO:0005615 9.93 WNT10B WNT1 SPARC SERPINH1 SERPINF1 IBSP
4 extracellular matrix GO:0031012 9.83 DSPP COL3A1 COL2A1 COL1A2 COL1A1
5 vesicle GO:0031982 9.77 SPARC SLC34A1 IBSP BMP1 BGLAP
6 collagen trimer GO:0005581 9.72 SERPINH1 COL3A1 COL2A1 COL1A2 COL1A1
7 basement membrane GO:0005604 9.63 SPARC SERPINF1 COL2A1
8 collagen-containing extracellular matrix GO:0062023 9.56 SPARC SERPINH1 SERPINF1 P3H1 COL3A1 COL2A1
9 collagen type I trimer GO:0005584 9.4 COL1A2 COL1A1
10 endoplasmic reticulum lumen GO:0005788 9.28 WNT1 SERPINH1 P3H1 FKBP10 COL3A1 COL2A1

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

(show all 28)
# Name GO ID Score Top Affiliating Genes
1 regulation of immune response GO:0050776 9.88 COL3A1 COL2A1 COL1A2 COL1A1
2 platelet activation GO:0030168 9.8 COL3A1 COL1A2 COL1A1
3 extracellular matrix organization GO:0030198 9.8 SPARC IBSP DSPP COL3A1 COL2A1 COL1A2
4 osteoblast differentiation GO:0001649 9.77 SP7 IBSP CREB3L1 COL1A1 BGLAP
5 cellular response to retinoic acid GO:0071300 9.74 WNT10B SERPINF1 COL1A1
6 response to mechanical stimulus GO:0009612 9.73 COL3A1 COL1A1 BGLAP
7 wound healing GO:0042060 9.73 SPARC FKBP10 COL3A1 COL1A1
8 response to peptide hormone GO:0043434 9.72 SPARC SLC34A1 COL1A1
9 bone development GO:0060348 9.72 WNT1 TMEM38B P3H1 COL2A1 BGLAP
10 bone mineralization GO:0030282 9.71 TMEM38B IBSP COL1A2 BGLAP
11 skeletal system development GO:0001501 9.7 DSPP COL3A1 COL2A1 COL1A2 COL1A1 BMP1
12 cartilage condensation GO:0001502 9.64 COL2A1 BMP1
13 negative regulation of cell-substrate adhesion GO:0010812 9.63 WNT1 COL1A1
14 biomineral tissue development GO:0031214 9.63 IBSP DSPP BGLAP
15 hematopoietic stem cell proliferation GO:0071425 9.62 WNT10B WNT1
16 collagen metabolic process GO:0032963 9.62 P3H1 COL1A2
17 extracellular matrix assembly GO:0085029 9.61 FKBP10 COL1A2
18 skin morphogenesis GO:0043589 9.61 COL1A2 COL1A1
19 cellular response to parathyroid hormone stimulus GO:0071374 9.6 WNT10B SLC34A1
20 collagen biosynthetic process GO:0032964 9.59 SERPINH1 COL1A1
21 response to gravity GO:0009629 9.58 SPARC BGLAP
22 response to peptide GO:1901652 9.54 SLC34A1 SERPINF1
23 cartilage development involved in endochondral bone morphogenesis GO:0060351 9.52 COL2A1 COL1A1
24 bone trabecula formation GO:0060346 9.51 WNT10B COL1A1
25 dentinogenesis GO:0097187 9.49 SLC34A1 DSPP
26 extracellular matrix constituent secretion GO:0070278 9.48 TMEM38B CREB3L1
27 collagen fibril organization GO:0030199 9.43 SERPINH1 FKBP10 COL3A1 COL2A1 COL1A2 COL1A1
28 ossification GO:0001503 9.28 TMEM38B SPARC SLC34A1 IBSP DSPP 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 9.56 SPARC SERPINH1 P3H1 DSPP
2 protease binding GO:0002020 9.5 COL3A1 COL1A2 COL1A1
3 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.46 COL3A1 COL2A1 COL1A2 COL1A1
4 extracellular matrix structural constituent GO:0005201 9.43 SPARC DSPP COL3A1 COL2A1 COL1A2 COL1A1
5 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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