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MCID: BRT054
MIFTS: 70

Brittle Bone Disorder

Categories: Bone diseases, Fetal diseases, Oral diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Brittle Bone Disorder

About this section

MalaCards integrated aliases for Brittle Bone Disorder:

Name: Brittle Bone Disorder 58 74
Osteogenesis Imperfecta 12 77 54 26 60 38 30 56 6 44 45 15 41 74
Brittle Bone Disease 12 77 54 26 60
Fragilitas Ossium 12 54 26
Osteopsathyrosis 12 54 60
Lobstein Disease 77 54 60
Oi 54 26 60
Porak and Durante Disease 54 60
Vrolik Disease 54 26
Osteogenesis Imperfecta, Recessive Perinatal Lethal 74
Osteogenesis Imperfecta, Dominant Perinatal Lethal 74
Lobstein's Syndrome 12
Glass Bone Disease 60
Lobstein's Disease 74
Vrolik's Disease 12

Characteristics:

Orphanet epidemiological data:

60
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:

MalaCards categories:
Global: Rare diseases Fetal diseases
Anatomical: Bone diseases Oral diseases
See all MalaCards categories (disease lists)
ICD10: 34 35
Orphanet: 60  
Rare bone diseases
Developmental anomalies during embryogenesis


Sources

Summaries for Brittle Bone Disorder

About this section
MedlinePlus : 44 Osteogenesis imperfecta (OI) is a genetic disorder in which bones break easily. Sometimes the bones break for no known reason. OI can also cause weak muscles, brittle teeth, a curved spine, and hearing loss. OI is caused by one of several genes that aren't working properly. When these genes don't work, it affects how you make collagen, a protein that helps make bones strong. OI can range from mild to severe, and symptoms vary from person to person. A person may have just a few or as many as several hundred fractures in a lifetime. No single test can identify OI. Your doctor uses your medical and family history, physical exam, and imaging and lab tests to diagnose it. Your doctor may also test your collagen (from skin) or genes (from blood). There is no cure, but you can manage symptoms. Treatments include exercise, pain medicine, physical therapy, wheelchairs, braces, and surgery. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases

MalaCards based summary : Brittle Bone Disorder, also known as osteogenesis imperfecta, is related to osteogenesis imperfecta, type xi and osteogenesis imperfecta, type viii, 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 Zoledronic Acid and Teriparatide have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and testes, and related phenotypes are macrocephaly and gait disturbance

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.

Genetics Home Reference : 26 Osteogenesis imperfecta (OI) is a group of genetic disorders that mainly affect the bones. The term "osteogenesis imperfecta" means imperfect bone formation. People with this condition have bones that break easily, often from mild trauma or with no apparent cause. Multiple fractures are common, and in severe cases, can occur even before birth. Milder cases may involve only a few fractures over a person's lifetime.

NIH Rare Diseases : 54 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.

Wikipedia : 77 Osteogenesis imperfecta (OI), also known as brittle bone disease, is a group of genetic disorders that... more...

Description from OMIM: 603828
Sources

Related Diseases for Brittle Bone Disorder

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

(show top 50) (show all 291)
# Related Disease Score Top Affiliating Genes
1 osteogenesis imperfecta, type xi 34.7 CRTAP FKBP10
2 osteogenesis imperfecta, type viii 34.7 COL1A1 COL1A2 CRTAP P3H1
3 osteogenesis imperfecta, type vi 34.5 COL1A1 IFITM5 TMEM38B
4 osteogenesis imperfecta, type v 34.4 CD36 COL1A1 COL1A2 IBSP IFITM5
5 high bone mass osteogenesis imperfecta 34.4 COL1A1 COL1A2
6 osteogenesis imperfecta, type i 34.3 BGLAP CD36 COL1A1 COL1A2 FGFR3 PEPD
7 osteogenesis imperfecta, type vii 34.3 CD36 COL1A1 COL1A2 CRTAP PTH1R
8 ehlers-danlos/osteogenesis imperfecta syndrome 34.0 COL1A1 COL1A2
9 osteogenesis imperfecta, type ii 33.8 CD36 COL1A1 COL1A2 CRTAP FGFR3 P3H1
10 osteogenesis imperfecta, type iii 33.5 BGLAP CD36 COL1A1 COL1A2 CREB3L1 CRTAP
11 osteogenesis imperfecta, type iv 33.0 CD36 COL1A1 COL1A2 CRTAP DSPP FKBP10
12 dentinogenesis imperfecta 32.9 COL1A1 COL1A2 CRTAP DSPP FKBP10 IFITM5
13 osteoporosis, juvenile 32.8 BGLAP CD36 COL1A1
14 coxa vara 32.6 COL2A1 CRTAP
15 bruck syndrome 32.4 CD36 COL1A1 COL1A2 CRTAP FKBP10 IFITM5
16 dentin dysplasia, type ii 32.4 DSPP IBSP
17 connective tissue disease 32.0 COL1A1 COL1A2 COL3A1 IBSP P3H1 PPIB
18 bone disease 31.5 BGLAP CD36 COL1A1 COL2A1 FGFR3 IBSP
19 ehlers-danlos syndrome 31.3 COL1A1 COL1A2 COL3A1
20 scoliosis 31.1 COL1A1 COL1A2 COL2A1 FGFR3
21 fibrous dysplasia 30.8 BGLAP IBSP SPARC
22 bone resorption disease 30.8 BGLAP COL1A1 IBSP
23 primary hyperparathyroidism 30.5 BGLAP CD36 PTH1R
24 osteoporosis 30.4 BGLAP CD36 COL1A1 COL1A2 IBSP PTH1R
25 skeletal dysplasias 30.4 COL2A1 FGFR3 PTH1R
26 marfan syndrome 30.3 COL1A2 COL3A1 DCN
27 osteogenesis imperfecta, type ix 12.9
28 osteogenesis imperfecta, type x 12.9
29 osteogenesis imperfecta, type xii 12.9
30 osteogenesis imperfecta, type xiv 12.9
31 osteogenesis imperfecta, type xv 12.9
32 osteogenesis imperfecta, type xiii 12.9
33 osteogenesis imperfecta, type xvi 12.9
34 osteogenesis imperfecta, type xvii 12.8
35 osteogenesis imperfecta, type xix 12.7
36 osteogenesis imperfecta, type xviii 12.7
37 col1a1/2-related osteogenesis imperfecta 12.6
38 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones, but without fractures 12.6
39 osteogenesis imperfecta levin type 12.4
40 osteogenesis imperfecta congenita, microcephaly, and cataracts 12.4
41 dentinogenesis imperfecta 1 12.2
42 osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome 12.2
43 bruck syndrome 2 12.1
44 bruck syndrome 1 12.0
45 osteoporosis-pseudoglioma syndrome 11.9
46 al gazali sabrinathan nair syndrome 11.8
47 cole-carpenter syndrome 11.8
48 gnathodiaphyseal dysplasia 11.6
49 gracile bone dysplasia 11.6
50 cole-carpenter syndrome 2 11.5

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



Diseases related to Brittle Bone Disorder
Sources

Symptoms & Phenotypes for Brittle Bone Disorder

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Human phenotypes related to Brittle Bone Disorder:

60 33 (show top 50) (show all 55)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000256
2 gait disturbance 60 33 hallmark (90%) Very frequent (99-80%) HP:0001288
3 carious teeth 60 33 hallmark (90%) Very frequent (99-80%) HP:0000670
4 pectus carinatum 60 33 hallmark (90%) Very frequent (99-80%) HP:0000768
5 brachycephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000248
6 micrognathia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000347
7 abnormality of the metaphysis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000944
8 dentinogenesis imperfecta 60 33 hallmark (90%) Very frequent (99-80%) HP:0000703
9 prominent occiput 60 33 hallmark (90%) Very frequent (99-80%) HP:0000269
10 diaphyseal thickening 60 33 hallmark (90%) Very frequent (99-80%) HP:0005019
11 intrauterine growth retardation 60 33 hallmark (90%) Very frequent (99-80%) HP:0001511
12 thin ribs 60 33 hallmark (90%) Very frequent (99-80%) HP:0000883
13 abnormality of dental enamel 60 33 hallmark (90%) Very frequent (99-80%) HP:0000682
14 convex nasal ridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0000444
15 blue sclerae 60 33 hallmark (90%) Very frequent (99-80%) HP:0000592
16 abnormality of dental color 60 33 hallmark (90%) Very frequent (99-80%) HP:0011073
17 decreased skull ossification 60 33 hallmark (90%) Very frequent (99-80%) HP:0004331
18 abnormality of tibia morphology 60 33 hallmark (90%) Very frequent (99-80%) HP:0002992
19 genu valgum 60 33 frequent (33%) Frequent (79-30%) HP:0002857
20 osteopenia 60 33 frequent (33%) Frequent (79-30%) HP:0000938
21 hyperhidrosis 60 33 frequent (33%) Frequent (79-30%) HP:0000975
22 scoliosis 60 33 frequent (33%) Frequent (79-30%) HP:0002650
23 corneal opacity 60 33 frequent (33%) Frequent (79-30%) HP:0007957
24 abnormal cortical bone morphology 60 33 frequent (33%) Frequent (79-30%) HP:0003103
25 visual impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000505
26 osteoporosis 60 33 frequent (33%) Frequent (79-30%) HP:0000939
27 narrow chest 60 33 frequent (33%) Frequent (79-30%) HP:0000774
28 joint hyperflexibility 60 33 frequent (33%) Frequent (79-30%) HP:0005692
29 glaucoma 60 33 frequent (33%) Frequent (79-30%) HP:0000501
30 protrusio acetabuli 60 33 frequent (33%) Frequent (79-30%) HP:0003179
31 large fontanelles 60 33 frequent (33%) Frequent (79-30%) HP:0000239
32 triangular face 60 33 frequent (33%) Frequent (79-30%) HP:0000325
33 femoral bowing 60 33 frequent (33%) Frequent (79-30%) HP:0002980
34 slender long bone 60 33 frequent (33%) Frequent (79-30%) HP:0003100
35 biconcave vertebral bodies 60 33 frequent (33%) Frequent (79-30%) HP:0004586
36 pectus excavatum 60 33 occasional (7.5%) Occasional (29-5%) HP:0000767
37 kyphosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002808
38 inguinal hernia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000023
39 hearing impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000365
40 umbilical hernia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001537
41 short stature 60 33 occasional (7.5%) Occasional (29-5%) HP:0004322
42 micromelia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002983
43 wormian bones 60 33 occasional (7.5%) Occasional (29-5%) HP:0002645
44 thrombocytopenia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001873
45 visceral angiomatosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0100761
46 recurrent fractures 60 33 occasional (7.5%) Occasional (29-5%) HP:0002757
47 abnormal endocardium morphology 33 occasional (7.5%) HP:0004306
48 bowing of the long bones 60 Frequent (79-30%)
49 abnormality of the dentition 60 Very frequent (99-80%)
50 malformation of the heart and great vessels 60 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:

47 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.41 CD36 COL1A1 COL1A2 COL2A1 COL3A1 CREB3L1
2 homeostasis/metabolism MP:0005376 10.31 CD36 COL1A1 COL1A2 COL2A1 COL3A1 CREB3L1
3 cellular MP:0005384 10.22 CD36 COL1A1 COL1A2 COL2A1 COL3A1 CREB3L1
4 craniofacial MP:0005382 10.21 COL1A1 COL2A1 DCN FGFR3 FKBP10 IBSP
5 hematopoietic system MP:0005397 10.2 CD36 COL1A1 CREB3L1 DCN FGFR3 FKBP10
6 cardiovascular system MP:0005385 10.19 CD36 COL1A1 COL1A2 COL2A1 COL3A1 FKBP10
7 immune system MP:0005387 10.14 CD36 COL1A1 COL2A1 COL3A1 DCN FGFR3
8 digestive/alimentary MP:0005381 10.1 CD36 COL1A1 COL2A1 COL3A1 DCN FGFR3
9 mortality/aging MP:0010768 10.07 CD36 COL1A1 COL1A2 COL2A1 COL3A1 DCN
10 limbs/digits/tail MP:0005371 10.06 COL1A1 COL1A2 COL2A1 FGFR3 FKBP10 IBSP
11 adipose tissue MP:0005375 10.02 CD36 COL1A1 COL1A2 COL2A1 COL3A1 P3H1
12 integument MP:0010771 10.02 COL1A1 COL1A2 COL3A1 DCN FGFR3 P3H1
13 muscle MP:0005369 9.76 CD36 COL1A1 COL1A2 COL3A1 DCN P3H1
14 respiratory system MP:0005388 9.5 COL1A1 COL2A1 COL3A1 DCN FGFR3 PTH1R
15 skeleton MP:0005390 9.5 CD36 COL1A1 COL1A2 COL2A1 CREB3L1 CRTAP
Sources

Drugs & Therapeutics for Brittle Bone Disorder

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

(show top 50) (show all 63)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Zoledronic Acid Approved Phase 4,Phase 3,Phase 2 118072-93-8 68740
2
Teriparatide Approved, Investigational Phase 4,Phase 2 52232-67-4 16133850
3
Parathyroid hormone Approved, Investigational Phase 4 9002-64-6
4
Alendronate Approved Phase 4 66376-36-1, 121268-17-5 2088
5
Pamidronate Approved Phase 4,Phase 3,Phase 2,Not Applicable 40391-99-9 4674
6
Calcium Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Not Applicable 7440-70-2 271
7
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 5280795 6221
8
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4,Phase 2 1406-16-2
9
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
10 Diphosphonates Phase 4,Phase 3,Phase 2
11 Bone Density Conservation Agents Phase 4,Phase 3,Phase 2,Not Applicable
12 Calcium, Dietary Phase 4,Phase 3,Phase 2,Not Applicable
13 Pharmaceutical Solutions Phase 4,Phase 3,Phase 2
14 Hormones Phase 4,Phase 3,Phase 2,Not Applicable
15 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Not Applicable
16 Hormone Antagonists Phase 4,Phase 3,Not Applicable
17 Vitamins Phase 4,Phase 2
18 Calciferol Phase 4,Phase 2
19 Ergocalciferols Phase 4
20 Nutrients Phase 4
21 Trace Elements Phase 4
22 Vitamin D2 Phase 4
23 Micronutrients Phase 4
24
Denosumab Approved Phase 3,Phase 2 615258-40-7
25
Risedronate Approved, Investigational Phase 3,Phase 2 105462-24-6 5245
26
Etidronic acid Approved Phase 3,Phase 2 7414-83-7, 2809-21-4 3305
27 calcium channel blockers Phase 3,Phase 2
28
Calcium Carbonate Approved, Investigational Phase 2 471-34-1
29 Antacids Phase 2
30 Gastrointestinal Agents Phase 2
31 Anti-Ulcer Agents Phase 2
32 Immunologic Factors Phase 2,Phase 1
33 Antibodies Phase 2,Phase 1
34 Immunoglobulins Phase 2,Phase 1
35 Liver Extracts Phase 1, Phase 2
36
Busulfan Approved, Investigational Phase 1 55-98-1 2478
37
Miconazole Approved, Investigational, Vet_approved Phase 1 22916-47-8 4189
38
Cyclophosphamide Approved, Investigational Phase 1 50-18-0, 6055-19-2 2907
39
Melatonin Approved, Nutraceutical, Vet_approved Phase 1 73-31-4 896
40 Antibodies, Monoclonal Phase 1
41 Immunosuppressive Agents Phase 1
42 Antineoplastic Agents, Alkylating Phase 1
43 Cyclosporins Phase 1
44 Antirheumatic Agents Phase 1
45 Dermatologic Agents Phase 1
46 Anti-Infective Agents Phase 1
47 Calcineurin Inhibitors Phase 1
48 Alkylating Agents Phase 1
49 Antifungal Agents Phase 1
50 Antioxidants Phase 1

Interventional clinical trials:

(show all 47)
# Name Status NCT ID Phase Drugs
1 Treatment of Osteogenesis Imperfecta With Parathyroid Hormone and Zoledronic Acid Recruiting NCT03735537 Phase 4 Teriparatide Pen Injector;Zoledronic Acid
2 Effect of High-Dose Vitamin D on Bone Density in Osteogenesis Imperfecta Completed NCT01713231 Phase 4
3 Study of Teriparatide (FORTEO) to Treat Adults With Osteogenesis Imperfecta Completed NCT00131469 Phase 4 Teriparatide (FORTEO);Placebos
4 Efficacy and Safety of Alendronate in Chinese Children or Adolescents With Osteogenesis Imperfecta Completed NCT02303873 Phase 4 Alendronate
5 Bisphosphonate Therapy for Osteogenesis Imperfecta Completed NCT00159419 Phase 4 Alendronate;Pamidronate
6 An Efficacy and Safety Trial of Intravenous Zoledronic Acid in Infants Less Than One Year of Age, With Severe Osteogenesis Imperfecta Completed NCT00982124 Phase 3 Zoledronic Acid
7 Open-label Extension Denosumab Study in Children and Young Adults With Osteogenesis Imperfecta Recruiting NCT03638128 Phase 3 Denosumab
8 Growth Hormone Therapy in Osteogenesis Imperfecta Completed NCT00001305 Phase 3 Humatrope
9 Safety and Efficacy of Risedronate in the Treatment of Osteogenesis Imperfecta in Children Completed NCT00106028 Phase 3 risedronate sodium (Actonel);Placebo
10 Pamidronate to Treat Osteogenesis Imperfecta in Children Completed NCT00005901 Phase 3 Pamidronate (Aredia)
11 Multicenter,Single-arm Study to Evaluate Efficacy, Safety, & Pharmacokinetics of Denosumab in Children w/ OI Active, not recruiting NCT02352753 Phase 3 Denosumab
12 An Exploratory Study of BPS804 Treatment in Adult Patients With Type I, III or IV Osteogenesis Imperfecta Withdrawn NCT03216486 Phase 2 BPS804
13 Do Bisphosphonates Alter the Skeletal Response to Mechanical Stimulation in Children With Osteogenesis Imperfecta? Completed NCT03208582 Phase 2 Risedronate Sodium
14 Translational Therapy in Patients With Osteogenesis Imperfecta - A Pilot Trial on Treatment With the Rankl-Antibody Denosumab Completed NCT01799798 Phase 2 Denosumab
15 Safety, Pharmacokinetics and Pharmacodynamics of BPS804 in Osteogenesis Imperfecta Completed NCT01417091 Phase 2 BPS804
16 The Effect of Treatment With Teriparatide and Zoledronic Acid in Patients With Osteogenesis Imperfecta Active, not recruiting NCT01679080 Phase 2 Zoledronic acid;Teriparatide
17 A Study in Adult Patients With Type I, III or IV Osteogenesis Imperfecta Treated With BPS804 Active, not recruiting NCT03118570 Phase 2 BPS804
18 Bisphosphonate Treatment of Osteogenesis Imperfecta Completed NCT00063479 Phase 2 Zoledronic Acid
19 Zoledronic Acid in Children (1 -17 Years) With Severe Osteogenesis Imperfecta Completed NCT00131118 Phase 2 Zoledronic Acid
20 Boost Brittle Bones Before Birth Not yet recruiting NCT03706482 Phase 1, Phase 2
21 Efficacy and Safety of Neridronate (Nerixia®)to Treat Osteoporosis in Patients With TM and TI Completed NCT01140321 Phase 2 Neridronate
22 Repeated Infusions of Mesenchymal Stromal Cells in Children With Osteogenesis Imperfecta Completed NCT01061099 Phase 1
23 Safety of Fresolimumab in the Treatment of Osteogenesis Imperfecta Recruiting NCT03064074 Phase 1 Fresolimumab
24 Treatment of Severe Osteogenesis Imperfecta by Allogeneic Bone Marrow Transplantation Completed NCT00705120 Phase 1 Cyclophosphamide;Cyclosporin;Busulfan
25 Mesenchymal Stem Cell Based Therapy for the Treatment of Osteogenesis Imperfecta Completed NCT02172885 Phase 1
26 Melatonin Osteoporosis Prevention Study Completed NCT01152580 Phase 1
27 Stromal Therapy of Osteodysplasia After Allogeneic Bone Marrow Transplantation Completed NCT00186914 Phase 1
28 Diagnosis of Osteogenesis Imperfecta in Children Unknown status NCT03169192 Zoledronic Acid
29 Preventive Fixation of Lower Limbs in Osteogenesis Imperfecta (Brittle Bone Disease) With the Highlight of the Fassier-Duval Unknown status NCT02868294 Not Applicable
30 Development of a Non-invasive Assessment of Human Bone Quality Using Spatially Offset Raman Spectroscopy Unknown status NCT02814591
31 Osteogenesis Imperfecta (OI) Quality of Life Survey Pilot Project 2 Completed NCT02793063
32 Pregnancy in Osteogenesis Imperfecta (OI) Registry Active, not recruiting NCT03072303
33 BBD Longitudinal Study of Osteogenesis Imperfecta Recruiting NCT02432625
34 Nutritional Interventional in Pediatric Patients With Osteogenesis Imperfecta Completed NCT03841188 Not Applicable
35 Effects of a Physical Rehabilitation Program Using the Nintendo Wii on Children With Osteogenesis Imperfecta (OI) Terminated NCT02542540 Not Applicable
36 Natural History of the Collagen-Related Disorder Osteogenesis Imperfecta and Genotype Phenotype Correlation Recruiting NCT03575221
37 Whole Body Vibration Training in Children With Osteogenesis Imperfecta and Limited Mobility Completed NCT03029312 Not Applicable
38 Marrow Mesenchymal Cell Therapy for Osteogenesis Imperfecta: A Pilot Study Completed NCT00187018 Not Applicable
39 Evaluation and Intervention for the Effects of Osteogenesis Imperfecta Completed NCT00001594
40 Urinary Biomarkers of OI Pathobiology Recruiting NCT02531087
41 Dental Malocclusion and Craniofacial Development in OI Recruiting NCT02934451
42 NGS Strategy Effectiveness in Molecular Diagnosis Completed NCT03557567
43 Evaluation and Treatment of Patients With Connective Tissue Disease Recruiting NCT00076830
44 The Influence of Bisphosphonates in the Oral Cavity in Children Completed NCT00402064
45 Prevention of Post Operative Bone Loss in Children Completed NCT00655681 Not Applicable pamidronate
46 Trial of Lithium Carbonate for Treatment of Osteoporosis-pseudoglioma Syndrome Completed NCT01108068 Not Applicable Lithium
47 Growth Hormone for Osteoporosis Pseudoglioma Syndrome Withdrawn NCT01614171 Not Applicable

Search NIH Clinical Center for Brittle Bone Disorder

Inferred drug relations via UMLS 74 / NDF-RT 52 :


Cochrane evidence based reviews: osteogenesis imperfecta

Sources

Genetic Tests for Brittle Bone Disorder

About this section

Genetic tests related to Brittle Bone Disorder:

# Genetic test Affiliating Genes
1 Osteogenesis Imperfecta 30 COL1A1 COL1A2
Sources

Anatomical Context for Brittle Bone Disorder

About this section

MalaCards organs/tissues related to Brittle Bone Disorder:

42
Bone, Skin, Testes, Heart, Eye, Bone Marrow, Kidney
Sources

Publications for Brittle Bone Disorder

About this section

Articles related to Brittle Bone Disorder:

(show top 50) (show all 2882)
# Title Authors Year
1
Aortic aneurysm/dissection and osteogenesis imperfecta: Four new families and review of the literature. ( 30684648 )
2019
2
WNT1-associated osteogenesis imperfecta with atrophic frontal lobes and arachnoid cysts. ( 30692598 )
2019
3
Incorporating the patient perspective in the study of rare bone disease: insights from the osteogenesis imperfecta community. ( 30191258 )
2019
4
Dentinogenesis imperfecta in Osteogenesis imperfecta type XI in South Africa: a genotype-phenotype correlation. ( 30993005 )
2019
5
Stress, Depression, and Quality of Life Among Caregivers of Children With Osteogenesis Imperfecta. ( 30827754 )
2019
6
Osteogenesis Imperfecta Due to Combined Heterozygous Mutations in Both COL1A1 and COL1A2, Coexisting With Pituitary Stalk Interruption Syndrome. ( 30984112 )
2019
7
Ptosis as a unique hallmark for autosomal recessive WNT1-associated osteogenesis imperfecta. ( 30896082 )
2019
8
SURGICAL MANAGEMENT OF RETINAL DETACHMENT IN OSTEOGENESIS IMPERFECTA: CASE REPORT AND REVIEW OF THE LITERATURE. ( 28085759 )
2019
9
Development of scoliosis in young children with osteogenesis imperfecta undergoing intravenous bisphosphonate therapy. ( 30187275 )
2019
10
COL1A2 p.Gly1066Val variant identified in a Han Chinese family with osteogenesis imperfecta type I. ( 30829463 )
2019
11
Otoscopic Manifestations of Osteogenesis Imperfecta Type I. ( 31072201 )
2019
12
17q21.32-q22 Deletion in a girl with osteogenesis imperfecta, tricho-dento-osseous syndrome, and intellectual disability. ( 29896840 )
2019
13
Treatment of tibial deformities with the Fassier-Duval telescopic nail and minimally invasive percutaneous osteotomies in patients with osteogenesis imperfecta type III. ( 30212425 )
2019
14
Personalized surgery approach in severe form of osteogenesis imperfecta type III: point of view. ( 30720562 )
2019
15
Using a corkscrew-tipped telescopic nail in the treatment of osteogenesis imperfecta: a biomechanical study and preliminary results of 17 consecutive cases. ( 30216208 )
2019
16
Longitudinal growth curves for children with classical osteogenesis imperfecta (types III and IV) caused by structural pathogenic variants in type I collagen. ( 30270360 )
2019
17
Osteogenesis imperfecta type VIII: Association with increased nuchal translucency and prenatal diagnosis by targeted exome sequencing. ( 30322678 )
2019
18
Effect of Anti-TGF-β Treatment in a Mouse Model of Severe Osteogenesis Imperfecta. ( 30357929 )
2019
19
A Non-Lethal Osteogenesis Imperfecta Type II Mutation. ( 30408804 )
2019
20
Do femoral fractures in adult patients with osteogenesis imperfecta imitate atypical femoral fractures? A case series. ( 30448959 )
2019
21
Bone Marrow Transplantation for Treatment of the Col1a2+/G610C Osteogenesis Imperfecta Mouse Model. ( 30535573 )
2019
22
Effect of rapamycin on bone mass and strength in the α2(I)-G610C mouse model of osteogenesis imperfecta. ( 30597759 )
2019
23
Genotype-phenotype relationship in a large cohort of osteogenesis imperfecta patients with COL1A1 mutations revealed by a new scoring system. ( 30614853 )
2019
24
Olecranon Fractures in Pediatric Patients With Osteogenesis Imperfecta. ( 30628974 )
2019
25
Osteogenesis Imperfecta: A Need to Understand Divergent Treatment Outcomes in a Disorder Rich in Heterogeneity. ( 30645778 )
2019
26
A homozygous pathogenic missense variant broadens the phenotypic and mutational spectrum of CREB3L1-related osteogenesis imperfecta. ( 30657919 )
2019
27
De novo and inherited pathogenic variants in collagen-related osteogenesis imperfecta. ( 30675999 )
2019
28
Supraglottic Airway Rescue After Failed Fiberoptic Intubation in a Patient With Osteogenesis Imperfecta: A Case Report. ( 30694815 )
2019
29
Assessing disease experience across the life span for individuals with osteogenesis imperfecta: challenges and opportunities for patient-reported outcomes (PROs) measurement: a pilot study. ( 30696467 )
2019
30
Genotypic and phenotypic characterization of Chinese patients with osteogenesis imperfecta. ( 30715774 )
2019
31
The management of osteogenesis imperfecta in adults: state of the art. ( 30742929 )
2019
32
Caries prevalence and experience in individuals with osteogenesis imperfecta: A cross-sectional multicenter study. ( 30758072 )
2019
33
Evidence for a de novo, dominant germ-line mutation causative of osteogenesis imperfecta in two Red Angus calves. ( 30788588 )
2019
34
Bladder and bowel symptoms experienced by children with osteogenesis imperfecta. ( 30802423 )
2019
35
Elastic intramedullary nailing of the femur fracture in patients affected by osteogenesis imperfecta type 3: Indications, limits and pitfalls. ( 30827706 )
2019
36
Current concepts in osteogenesis imperfecta: bone structure, biomechanics and medical management. ( 30838070 )
2019
37
Complex spine deformities in young patients with severe osteogenesis imperfecta: current concepts review. ( 30838072 )
2019
38
Osteogenesis Imperfecta: A Pediatric Orthopedic Perspective. ( 30850078 )
2019
39
Challenges of delivery of dental care and dental pathologies in children and young people with osteogenesis imperfecta. ( 30868445 )
2019
40
Genotype-phenotype correlation study in 364 osteogenesis imperfecta Italian patients. ( 30886339 )
2019
41
Compromised Exercise Capacity and Mitochondrial Dysfunction in the Osteogenesis Imperfecta Murine (oim) Mouse Model. ( 30908713 )
2019
42
NOVEL MUTATIONS IN THE WNT1, TMEM38B, P4HB, AND PLS3 GENES IN FOUR UNRELATED CHINESE FAMILIES WITH OSTEOGENESIS IMPERFECTA. ( 30913006 )
2019
43
Mobility in osteogenesis imperfecta: a multicenter North American study. ( 30918359 )
2019
44
Stakeholder views and attitudes towards prenatal and postnatal transplantation of fetal mesenchymal stem cells to treat Osteogenesis Imperfecta. ( 30918362 )
2019
45
A Case of Osteogenesis Imperfecta Type II With Additional Balanced Translocation t(1;20)(p13;p11.2). ( 30942118 )
2019
46
A novel missense mutation in P4HB causes mild osteogenesis imperfecta. ( 30948499 )
2019
47
Radiation exposure in adult and pediatric patients with osteogenesis imperfecta. ( 30976147 )
2019
48
A novel Ser40Trp variant in IFITM5 in a family with osteogenesis imperfecta and review of the literature. ( 30985308 )
2019
49
Results of stapedotomy in otosurgical treatment of adult patients with osteogenesis imperfecta. ( 31006558 )
2019
50
Use of sliding transphyseal flexible intramedullary nailing in pediatric osteogenesis imperfecta patients. ( 31023194 )
2019
Sources

Variations for Brittle Bone Disorder

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ClinVar genetic disease variations for Brittle Bone Disorder:

6 (show top 50) (show all 311)
# Gene Variation Type Significance SNP ID Assembly Location
1 COL1A2 NC_000007.14: g.94418886_94423301del4416 deletion Pathogenic GRCh37 Chromosome 7, 94048198: 94052613
2 COL1A2 NC_000007.14: g.94418886_94423301del4416 deletion Pathogenic GRCh38 Chromosome 7, 94418886: 94423301
3 COL1A2 NM_000089.3(COL1A2): c.2720G> A (p.Gly907Asp) single nucleotide variant Pathogenic rs121912900 GRCh37 Chromosome 7, 94054475: 94054475
4 COL1A2 NM_000089.3(COL1A2): c.2720G> A (p.Gly907Asp) single nucleotide variant Pathogenic rs121912900 GRCh38 Chromosome 7, 94425163: 94425163
5 COL1A2 COL1A2, EX33DEL deletion Pathogenic
6 COL1A2 NM_000089.3(COL1A2): c.1640G> A (p.Gly547Asp) single nucleotide variant Pathogenic rs121912901 GRCh37 Chromosome 7, 94043234: 94043234
7 COL1A2 NM_000089.3(COL1A2): c.1640G> A (p.Gly547Asp) single nucleotide variant Pathogenic rs121912901 GRCh38 Chromosome 7, 94413922: 94413922
8 COL1A2 NM_000089.3(COL1A2): c.2593G> A (p.Gly865Ser) single nucleotide variant Pathogenic rs121912902 GRCh37 Chromosome 7, 94053675: 94053675
9 COL1A2 NM_000089.3(COL1A2): c.2593G> A (p.Gly865Ser) single nucleotide variant Pathogenic rs121912902 GRCh38 Chromosome 7, 94424363: 94424363
10 COL1A2 COL1A2, GLY976ASP undetermined variant Pathogenic
11 COL1A2 NM_000089.3(COL1A2): c.2414G> A (p.Gly805Asp) single nucleotide variant Pathogenic rs121912904 GRCh37 Chromosome 7, 94052279: 94052279
12 COL1A2 NM_000089.3(COL1A2): c.2414G> A (p.Gly805Asp) single nucleotide variant Pathogenic rs121912904 GRCh38 Chromosome 7, 94422967: 94422967
13 COL1A2 COL1A2, EX28DEL deletion Pathogenic
14 COL1A2 NM_000089.3(COL1A2): c.1414G> T (p.Gly472Cys) single nucleotide variant Pathogenic rs121912906 GRCh37 Chromosome 7, 94041905: 94041905
15 COL1A2 NM_000089.3(COL1A2): c.1414G> T (p.Gly472Cys) single nucleotide variant Pathogenic rs121912906 GRCh38 Chromosome 7, 94412593: 94412593
16 COL1A2 COL1A2, IVS33DS, G-A, +5 single nucleotide variant Pathogenic
17 COL1A2 NM_000089.3(COL1A2): c.2080G> C (p.Gly694Arg) single nucleotide variant Pathogenic rs121912908 GRCh37 Chromosome 7, 94049545: 94049545
18 COL1A2 NM_000089.3(COL1A2): c.2080G> C (p.Gly694Arg) single nucleotide variant Pathogenic rs121912908 GRCh38 Chromosome 7, 94420233: 94420233
19 COL1A2 NM_000089.3(COL1A2): c.1739G> A (p.Gly580Asp) single nucleotide variant Pathogenic rs121912909 GRCh37 Chromosome 7, 94044557: 94044557
20 COL1A2 NM_000089.3(COL1A2): c.1739G> A (p.Gly580Asp) single nucleotide variant Pathogenic rs121912909 GRCh38 Chromosome 7, 94415245: 94415245
21 COL1A2 NM_000089.3(COL1A2): c.1504G> A (p.Gly502Ser) single nucleotide variant Pathogenic rs121912910 GRCh37 Chromosome 7, 94042395: 94042395
22 COL1A2 NM_000089.3(COL1A2): c.1504G> A (p.Gly502Ser) single nucleotide variant Pathogenic rs121912910 GRCh38 Chromosome 7, 94413083: 94413083
23 COL1A2 NM_000089.3(COL1A2): c.1262G> A (p.Gly421Asp) single nucleotide variant Pathogenic rs267606741 GRCh37 Chromosome 7, 94040378: 94040378
24 COL1A2 NM_000089.3(COL1A2): c.1262G> A (p.Gly421Asp) single nucleotide variant Pathogenic rs267606741 GRCh38 Chromosome 7, 94411066: 94411066
25 COL1A1 NM_000088.3(COL1A1): c.824G> A (p.Gly275Asp) single nucleotide variant Pathogenic rs72645333 GRCh37 Chromosome 17, 48274012: 48274012
26 COL1A1 NM_000088.3(COL1A1): c.824G> A (p.Gly275Asp) single nucleotide variant Pathogenic rs72645333 GRCh38 Chromosome 17, 50196651: 50196651
27 COL1A1 NM_000088.3(COL1A1): c.1705G> C (p.Gly569Arg) single nucleotide variant Pathogenic rs72648363 GRCh37 Chromosome 17, 48271366: 48271366
28 COL1A1 NM_000088.3(COL1A1): c.1705G> C (p.Gly569Arg) single nucleotide variant Pathogenic rs72648363 GRCh38 Chromosome 17, 50194005: 50194005
29 COL1A1 NM_000088.3(COL1A1): c.2210G> A (p.Gly737Asp) single nucleotide variant Pathogenic rs72651651 GRCh37 Chromosome 17, 48268769: 48268769
30 COL1A1 NM_000088.3(COL1A1): c.2210G> A (p.Gly737Asp) single nucleotide variant Pathogenic rs72651651 GRCh38 Chromosome 17, 50191408: 50191408
31 COL1A1 NM_000088.3(COL1A1): c.2552G> A (p.Gly851Asp) single nucleotide variant Pathogenic rs72653137 GRCh37 Chromosome 17, 48267369: 48267369
32 COL1A1 NM_000088.3(COL1A1): c.2552G> A (p.Gly851Asp) single nucleotide variant Pathogenic rs72653137 GRCh38 Chromosome 17, 50190008: 50190008
33 COL1A1 NM_000088.3(COL1A1): c.2533G> A (p.Gly845Arg) single nucleotide variant Pathogenic rs72653136 GRCh37 Chromosome 17, 48267388: 48267388
34 COL1A1 NM_000088.3(COL1A1): c.2533G> A (p.Gly845Arg) single nucleotide variant Pathogenic rs72653136 GRCh38 Chromosome 17, 50190027: 50190027
35 COL1A1 NM_000088.3(COL1A1): c.2605G> T (p.Gly869Cys) single nucleotide variant Pathogenic rs72653143 GRCh37 Chromosome 17, 48267228: 48267228
36 COL1A1 NM_000088.3(COL1A1): c.2605G> T (p.Gly869Cys) single nucleotide variant Pathogenic rs72653143 GRCh38 Chromosome 17, 50189867: 50189867
37 COL1A1 NM_000088.3(COL1A1): c.2686G> T (p.Gly896Cys) single nucleotide variant Pathogenic rs72653152 GRCh37 Chromosome 17, 48266881: 48266881
38 COL1A1 NM_000088.3(COL1A1): c.2686G> T (p.Gly896Cys) single nucleotide variant Pathogenic rs72653152 GRCh38 Chromosome 17, 50189520: 50189520
39 COL1A1 NM_000088.3(COL1A1): c.2776G> T (p.Gly926Cys) single nucleotide variant Pathogenic rs72653154 GRCh37 Chromosome 17, 48266791: 48266791
40 COL1A1 NM_000088.3(COL1A1): c.2776G> T (p.Gly926Cys) single nucleotide variant Pathogenic rs72653154 GRCh38 Chromosome 17, 50189430: 50189430
41 COL1A1 NM_000088.3(COL1A1): c.3073G> A (p.Gly1025Arg) single nucleotide variant Pathogenic rs72653172 GRCh37 Chromosome 17, 48266129: 48266129
42 COL1A1 NM_000088.3(COL1A1): c.3073G> A (p.Gly1025Arg) single nucleotide variant Pathogenic rs72653172 GRCh38 Chromosome 17, 50188768: 50188768
43 COL1A1 NM_000088.3(COL1A1): c.3182G> A (p.Gly1061Asp) single nucleotide variant Pathogenic rs72654797 GRCh37 Chromosome 17, 48265916: 48265916
44 COL1A1 NM_000088.3(COL1A1): c.3182G> A (p.Gly1061Asp) single nucleotide variant Pathogenic rs72654797 GRCh38 Chromosome 17, 50188555: 50188555
45 COL1A1 NM_000088.3(COL1A1): c.3244G> T (p.Gly1082Cys) single nucleotide variant Pathogenic rs72656303 GRCh37 Chromosome 17, 48265474: 48265474
46 COL1A1 NM_000088.3(COL1A1): c.3244G> T (p.Gly1082Cys) single nucleotide variant Pathogenic rs72656303 GRCh38 Chromosome 17, 50188113: 50188113
47 COL1A1 NM_000088.3(COL1A1): c.3271G> A (p.Gly1091Ser) single nucleotide variant Pathogenic rs72656306 GRCh37 Chromosome 17, 48265335: 48265335
48 COL1A1 NM_000088.3(COL1A1): c.3271G> A (p.Gly1091Ser) single nucleotide variant Pathogenic rs72656306 GRCh38 Chromosome 17, 50187974: 50187974
49 COL1A1 NM_000088.3(COL1A1): c.3496G> T (p.Gly1166Cys) single nucleotide variant Pathogenic rs72656324 GRCh37 Chromosome 17, 48264411: 48264411
50 COL1A1 NM_000088.3(COL1A1): c.3496G> T (p.Gly1166Cys) single nucleotide variant Pathogenic rs72656324 GRCh38 Chromosome 17, 50187050: 50187050
Sources

Expression for Brittle Bone Disorder

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

Pathways for Brittle Bone Disorder

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

(show all 22)
# Super pathways Score Top Affiliating Genes
1
PI3K-Akt signaling pathway 38
Show member pathways
 12.84 COL1A1 COL1A2 COL2A1 CREB3L1 FGFR3 IBSP
2
Focal Adhesion 1 38
Show member pathways
 12.74 COL1A1 COL1A2 COL2A1 COL3A1 IBSP
3
Collagen chain trimerization 67
Show member pathways
 12.67 COL1A1 COL1A2 COL2A1 COL3A1 CRTAP P3H1
4
ECM-receptor interaction 38
Show member pathways
 12.02 CD36 COL1A1 COL1A2 COL2A1 IBSP
5
Degradation of the extracellular matrix 67
Show member pathways
 12.02 COL1A1 COL1A2 COL2A1 COL3A1 CRTAP DCN
6
Platelet activation 38
11.87 COL1A1 COL1A2 COL3A1
7
Parathyroid hormone synthesis, secretion and action 38
11.79 BGLAP CREB3L1 PTH1R
8
Senescence and Autophagy in Cancer 1
11.79 COL1A1 COL3A1 SPARC
9
AGE-RAGE signaling pathway in diabetic complications 38
11.74 COL1A1 COL1A2 COL3A1
10
Binding and Uptake of Ligands by Scavenger Receptors 67
Show member pathways
 11.74 CD36 COL1A1 COL1A2 COL3A1 SPARC
11
Amoebiasis 38
11.72 COL1A1 COL1A2 COL3A1
12
Endochondral Ossification 1
11.53 COL2A1 FGFR3 PTH1R
13
ECM proteoglycans 67
11.51 DCN DSPP IBSP SPARC
14
Cell adhesion_ECM remodeling 23
11.44 COL1A1 COL1A2 COL2A1 COL3A1 SPARC
15
Platelet Aggregation Inhibitor Pathway, Pharmacodynamics 62
11.38 CD36 COL1A1 COL1A2 COL3A1
16
Transcription_Role of VDR in regulation of genes involved in osteoporosis 23
11.34 BGLAP COL1A1 PTH1R
17
Validated transcriptional targets of AP1 family members Fra1 and Fra2 1
11.2 BGLAP COL1A2 DCN
18
Inflammatory Response Pathway 1
11.17 COL1A1 COL1A2 COL3A1
19
VEGFR3 signaling in lymphatic endothelium 1
10.97 COL1A1 COL1A2
20
Development_Hedgehog and PTH signaling pathways in bone and cartilage development 23
10.94 BGLAP COL1A1 COL1A2 IBSP PTH1R
21
G-protein signaling_Rap2B regulation pathway 23
10.85 COL1A1 COL1A2 COL2A1 COL3A1 FGFR3
22
Osteoblast Signaling 1
10.6 BGLAP COL1A1 IBSP PTH1R
Sources

GO Terms for Brittle Bone Disorder

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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 9.96 BGLAP CD36 COL1A1 COL1A2 COL2A1 COL3A1
2 collagen trimer GO:0005581 9.71 COL1A1 COL1A2 COL2A1 COL3A1
3 collagen-containing extracellular matrix GO:0062023 9.63 COL1A1 COL1A2 COL2A1 COL3A1 DCN SPARC
4 extracellular matrix GO:0031012 9.5 COL1A1 COL1A2 COL2A1 COL3A1 DCN DSPP
5 platelet alpha granule membrane GO:0031092 9.46 CD36 SPARC
6 collagen type I trimer GO:0005584 9.43 COL1A1 COL1A2
7 endoplasmic reticulum lumen GO:0005788 9.28 BGLAP COL1A1 COL1A2 COL2A1 COL3A1 CRTAP
8 extracellular region GO:0005576 10.06 BGLAP COL1A1 COL1A2 COL2A1 COL3A1 DCN
9 endoplasmic reticulum GO:0005783 10.02 COL1A1 COL1A2 CREB3L1 CRTAP FGFR3 FKBP10

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

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 regulation of immune response GO:0050776 9.88 COL1A1 COL1A2 COL2A1 COL3A1
2 osteoblast differentiation GO:0001649 9.8 BGLAP COL1A1 CREB3L1 IBSP
3 platelet activation GO:0030168 9.79 COL1A1 COL1A2 COL3A1
4 response to mechanical stimulus GO:0009612 9.77 BGLAP COL1A1 COL3A1 DCN DSPP
5 cellular response to growth factor stimulus GO:0071363 9.75 BGLAP IBSP SPARC
6 cellular response to amino acid stimulus GO:0071230 9.74 COL1A1 COL1A2 COL3A1
7 wound healing GO:0042060 9.73 COL1A1 COL3A1 DCN SPARC
8 blood vessel development GO:0001568 9.72 COL1A1 COL1A2 COL3A1
9 bone development GO:0060348 9.72 BGLAP COL2A1 P3H1 PPIB SPARC
10 chondrocyte differentiation GO:0002062 9.71 COL2A1 FGFR3 PTH1R
11 collagen fibril organization GO:0030199 9.71 COL1A1 COL1A2 COL2A1 COL3A1
12 biomineral tissue development GO:0031214 9.7 BGLAP DSPP IBSP
13 chaperone-mediated protein folding GO:0061077 9.69 CRTAP P3H1 PPIB
14 endochondral ossification GO:0001958 9.65 COL1A1 COL2A1 FGFR3
15 bone mineralization GO:0030282 9.65 BGLAP FGFR3 IBSP IFITM5 PTH1R
16 ossification GO:0001503 9.63 BGLAP COL1A1 COL2A1 DSPP PTH1R SPARC
17 regulation of bone mineralization GO:0030500 9.62 BGLAP IFITM5
18 osteoblast development GO:0002076 9.62 BGLAP PTH1R
19 protein heterotrimerization GO:0070208 9.61 COL1A1 COL1A2
20 response to gravity GO:0009629 9.6 BGLAP SPARC
21 skin morphogenesis GO:0043589 9.59 COL1A1 COL1A2
22 cartilage development involved in endochondral bone morphogenesis GO:0060351 9.56 COL1A1 COL2A1
23 extracellular matrix organization GO:0030198 9.56 COL1A1 COL1A2 COL2A1 COL3A1 DCN DSPP
24 negative regulation of post-translational protein modification GO:1901874 9.46 CRTAP P3H1
25 skeletal system development GO:0001501 9.23 BGLAP COL1A1 COL1A2 COL2A1 COL3A1 DSPP

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 GO:0005201 9.65 COL1A1 COL1A2 COL2A1 COL3A1 DSPP
2 protease binding GO:0002020 9.54 COL1A1 COL1A2 COL3A1
3 SMAD binding GO:0046332 9.5 COL1A2 COL3A1 CREB3L1
4 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.46 COL1A1 COL1A2 COL2A1 COL3A1
5 collagen binding GO:0005518 9.35 DCN DSPP P3H1 PPIB SPARC
6 platelet-derived growth factor binding GO:0048407 8.92 COL1A1 COL1A2 COL2A1 COL3A1
Sources

Sources for Brittle Bone Disorder

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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