MCID: BRT054
MIFTS: 67

Brittle Bone Disorder

Categories: Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Brittle Bone Disorder

MalaCards integrated aliases for Brittle Bone Disorder:

Name: Brittle Bone Disorder 53 69
Osteogenesis Imperfecta 12 72 49 24 55 36 28 51 40 41 14 69
Brittle Bone Disease 12 72 49 24 55
Fragilitas Ossium 12 49 24
Osteopsathyrosis 12 49 55
Lobstein Disease 72 49 55
Oi 49 24 55
Osteogenesis Imperfecta, Recessive Perinatal Lethal 69 28
Porak and Durante Disease 49 55
Vrolik Disease 49 24
Osteogenesis Imperfecta, Dominant Perinatal Lethal 69
Lobstein's Syndrome 12
Glass Bone Disease 55
Lobstein's Disease 69
Vrolik's Disease 12

Characteristics:

Orphanet epidemiological data:

55
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:



Summaries for Brittle Bone Disorder

MedlinePlus : 40 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 viii and osteogenesis imperfecta, type xi, and has symptoms including macrocephaly, pectus excavatum and genu valgum. An important gene associated with Brittle Bone Disorder is COL1A1 (Collagen Type I Alpha 1 Chain), and among its related pathways/superpathways are PI3K-Akt signaling pathway and Focal Adhesion. The drugs Teriparatide and Alendronate have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and testes, and related phenotypes are growth/size/body region and homeostasis/metabolism

NIH Rare Diseases : 49 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. Last updated: 2/16/2018

Genetics Home Reference : 24 Osteogenesis imperfecta (OI) is a group of genetic disorders that mainly affect the bones. The term "osteogenesis imperfecta" means imperfect bone formation. People with this condition have bones that break easily, often from mild trauma or with no apparent cause. Multiple fractures are common, and in severe cases, can occur even before birth. Milder cases may involve only a few fractures over a person's lifetime.

Disease Ontology : 12 An osteochondrodysplasia that has material basis in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue.

Description 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 216)
# Related Disease Score Top Affiliating Genes
1 osteogenesis imperfecta, type viii 34.3 COL1A1 COL1A2 CRTAP P3H1
2 osteogenesis imperfecta, type xi 34.3 CRTAP FKBP10
3 high bone mass osteogenesis imperfecta 34.2 COL1A1 COL1A2
4 ehlers-danlos/osteogenesis imperfecta syndrome 33.9 COL1A1 COL1A2
5 osteogenesis imperfecta, type vii 33.8 CD36 COL1A1 COL1A2 CRTAP PTH1R
6 osteogenesis imperfecta, type v 33.8 CD36 COL1A1 COL1A2 IBSP IFITM5
7 osteogenesis imperfecta, type vi 33.6 COL1A1 COL1A2 IBSP IFITM5 TMEM38B
8 osteogenesis imperfecta, type i 33.6 BGLAP CD36 COL1A1 COL1A2 FGFR3 PEPD
9 osteogenesis imperfecta, type ii 32.6 CD36 COL1A1 COL1A2 CRTAP FGFR3 P3H1
10 osteoporosis, juvenile 32.5 BGLAP COL1A1
11 dentin dysplasia, type ii 32.2 DSPP IBSP
12 osteogenesis imperfecta, type iii 32.2 BGLAP CD36 COL1A1 COL1A2 CRTAP FKBP10
13 dentinogenesis imperfecta 32.0 COL1A1 COL1A2 CRTAP DSPP FKBP10 IFITM5
14 osteogenesis imperfecta, type iv 31.7 CD36 COL1A1 COL1A2 CRTAP DSPP FKBP10
15 bruck syndrome 31.6 CD36 COL1A1 COL1A2 CRTAP FKBP10 P3H1
16 ehlers-danlos syndrome 30.9 COL1A1 COL1A2 COL3A1
17 connective tissue disease 30.7 COL1A1 COL1A2 COL3A1 IBSP P3H1 PPIB
18 cohen-gibson syndrome 30.6 BGLAP CD36
19 fibrous dysplasia 30.5 BGLAP IBSP SPARC
20 otosclerosis 30.1 CD36 COL1A1 COL1A2 PTH1R
21 marfan syndrome 30.1 CD36 COL1A2 DCN
22 scoliosis 30.0 COL1A1 COL1A2 COL2A1 FGFR3
23 skeletal dysplasias 30.0 COL2A1 FGFR3 PTH1R
24 osteochondrodysplasia 29.4 BGLAP COL2A1 FGFR3 PTH1R
25 osteoporosis 29.4 BGLAP CD36 COL1A1 COL1A2 COL2A1 IBSP
26 osteogenesis imperfecta, type ix 12.7
27 osteogenesis imperfecta, type x 12.7
28 osteogenesis imperfecta, type xiv 12.6
29 osteogenesis imperfecta, type xv 12.6
30 osteogenesis imperfecta, type xii 12.6
31 osteogenesis imperfecta, type xiii 12.6
32 osteogenesis imperfecta, type xvi 12.5
33 osteogenesis imperfecta, type xvii 12.5
34 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones, but without fractures 12.4
35 osteogenesis imperfecta levin type 12.3
36 osteogenesis imperfecta congenita, microcephaly, and cataracts 12.2
37 col1a1/2-related osteogenesis imperfecta 12.2
38 osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome 12.0
39 dentinogenesis imperfecta 1 11.8
40 osteoporosis-pseudoglioma syndrome 11.7
41 bruck syndrome 2 11.7
42 bruck syndrome 1 11.6
43 al gazali sabrinathan nair syndrome 11.6
44 cole-carpenter syndrome 11.6
45 gnathodiaphyseal dysplasia 11.4
46 gracile bone dysplasia 11.4
47 bone fracture 11.4
48 dentinogenesis imperfecta type 2 11.0
49 atelosteogenesis, type i 11.0
50 basilar impression, primary 11.0

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



Diseases related to Brittle Bone Disorder

Symptoms & Phenotypes for Brittle Bone Disorder

Clinical features from OMIM:

603828

Human phenotypes related to Brittle Bone Disorder:

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

UMLS symptoms related to Brittle Bone Disorder:


sciatica, muscle cramp, back pain

MGI Mouse Phenotypes related to Brittle Bone Disorder:

43 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.33 CRTAP CD36 COL2A1 COL1A1 COL3A1 COL1A2
2 homeostasis/metabolism MP:0005376 10.25 COL1A2 CD36 COL2A1 COL1A1 COL3A1 PPIB
3 craniofacial MP:0005382 10.19 DCN COL2A1 COL1A1 IBSP IFITM5 FGFR3
4 cardiovascular system MP:0005385 10.16 COL1A2 CD36 COL2A1 COL1A1 COL3A1 PEPD
5 immune system MP:0005387 10.1 CD36 COL2A1 COL1A1 COL3A1 IBSP DCN
6 digestive/alimentary MP:0005381 10.08 CD36 COL2A1 COL1A1 COL3A1 IBSP DCN
7 mortality/aging MP:0010768 10.07 COL1A2 CD36 COL2A1 COL1A1 COL3A1 PPIB
8 limbs/digits/tail MP:0005371 10.06 COL2A1 COL1A1 COL1A2 IBSP IFITM5 P3H1
9 integument MP:0010771 10.02 COL1A2 COL1A1 COL3A1 DCN P3H1 FGFR3
10 adipose tissue MP:0005375 10 COL1A2 CD36 COL2A1 COL1A1 COL3A1 P3H1
11 muscle MP:0005369 9.76 COL1A2 CD36 COL1A1 COL3A1 DCN P3H1
12 respiratory system MP:0005388 9.5 COL2A1 COL1A1 COL3A1 DCN FGFR3 PTH1R
13 skeleton MP:0005390 9.47 DCN CD36 COL2A1 COL1A1 COL1A2 CRTAP

Drugs & Therapeutics for Brittle Bone Disorder

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

(show top 50) (show all 53)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Teriparatide Approved, Investigational Phase 4,Phase 2 52232-67-4 16133850
2
Alendronate Approved Phase 4 121268-17-5, 66376-36-1 2088
3
Pamidronate Approved Phase 4,Phase 3,Phase 2,Not Applicable 40391-99-9 4674
4
Cholecalciferol Approved, Nutraceutical Phase 4 67-97-0 10883523 5280795 6221
5
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
6
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4,Phase 2 1406-16-2
7 Bone Density Conservation Agents Phase 4,Phase 3,Phase 2,Not Applicable
8 Ergocalciferols Phase 4
9 Micronutrients Phase 4
10 Trace Elements Phase 4
11 Vitamins Phase 4,Phase 2
12 Diphosphonates Phase 4,Phase 3,Phase 2,Not Applicable
13 Calciferol Nutraceutical Phase 4
14 Vitamin D2 Nutraceutical Phase 4
15
Zoledronic acid Approved Phase 3,Phase 2 118072-93-8 68740
16
Etidronic acid Approved Phase 3,Phase 2 2809-21-4, 7414-83-7 3305
17
Denosumab Approved Phase 3,Phase 2 615258-40-7
18 calcium channel blockers Phase 3,Phase 2
19 Calcium, Dietary Phase 3,Phase 2
20 Risedronate Sodium Phase 3,Phase 2 115436-72-1
21 Hormone Antagonists Phase 3,Not Applicable
22 Hormones Phase 3,Not Applicable
23 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Not Applicable
24
Calcium Carbonate Approved, Investigational Phase 2 471-34-1
25 Antibodies Phase 2,Phase 1
26 Immunoglobulins Phase 2,Phase 1
27 Antacids Phase 2
28 Anti-Ulcer Agents Phase 2
29 Gastrointestinal Agents Phase 2
30
Busulfan Approved, Investigational Phase 1 55-98-1 2478
31
Cyclophosphamide Approved, Investigational Phase 1 50-18-0, 6055-19-2 2907
32
Miconazole Approved, Investigational, Vet_approved Phase 1 22916-47-8 4189
33 Alkylating Agents Phase 1
34 Antifungal Agents Phase 1
35 Anti-Infective Agents Phase 1
36 Antirheumatic Agents Phase 1
37 Calcineurin Inhibitors Phase 1
38 Cyclosporins Phase 1
39 Dermatologic Agents Phase 1
40 Immunosuppressive Agents Phase 1
41 Antibodies, Monoclonal Phase 1
42
Menthol Approved Not Applicable 2216-51-5 16666
43
Citric Acid Approved, Nutraceutical, Vet_approved Not Applicable 77-92-9 311
44 Antidepressive Agents Not Applicable
45 Antimanic Agents Not Applicable
46 Central Nervous System Depressants Not Applicable
47 Lithium carbonate Not Applicable 554-13-2
48 Psychotropic Drugs Not Applicable
49 Tranquilizing Agents Not Applicable
50 Anabolic Agents

Interventional clinical trials:

(show all 39)

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

Search NIH Clinical Center for Brittle Bone Disorder

Inferred drug relations via UMLS 69 / NDF-RT 47 :


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 28 COL1A1 COL1A2
2 Osteogenesis Imperfecta, Recessive Perinatal Lethal 28 COL1A1 COL1A2

Anatomical Context for Brittle Bone Disorder

MalaCards organs/tissues related to Brittle Bone Disorder:

38
Bone, Skin, Testes, Heart

Publications for Brittle Bone Disorder

Articles related to Brittle Bone Disorder:

(show top 50) (show all 1056)
# Title Authors Year
1
Osteogenesis imperfecta. ( 28820189 )
2017
2
Developmental charts for children with osteogenesis imperfecta, type I (body height, body weight and BMI). ( 28058531 )
2017
3
Femoral neck fractures in osteogenesis imperfecta treated with bisphosphonates. ( 28828062 )
2017
4
Novel missense loss-of-function mutations of WNT1 in an autosomal recessive Osteogenesis imperfecta patient. ( 28528193 )
2017
5
Isolated olecranon fractures in children affected by osteogenesis imperfecta type I treated with single screw or tension band wiring system: Outcomes and pitfalls in relation to bone mineral density. ( 28514292 )
2017
6
WHOLE-BODY VIBRATION EXERCISE IMPROVES FUNCTIONAL PARAMETERS IN PATIENTS WITH OSTEOGENESIS IMPERFECTA: A SYSTEMATIC REVIEW WITH A SUITABLE APPROACH. ( 28480432 )
2017
7
An ENU-induced splice site mutation of mouse Col1a1 causing recessive osteogenesis imperfecta and revealing a novel splicing rescue. ( 28916811 )
2017
8
Letter to the Editor: Therapies for Osteogenesis Imperfecta. ( 28527487 )
2017
9
Bisphosphonate therapy and osteogenesis imperfecta: The lived experience of children and their mothers. ( 28876506 )
2017
10
Novel mutations in FKBP10 in Chinese patients with osteogenesis imperfecta and their treatment with zoledronic acid. ( 27762305 )
2017
11
The chaperone activity of 4PBA ameliorates the skeletal phenotype of Chihuahua, a zebrafish model for dominant osteogenesis imperfecta. ( 28475764 )
2017
12
Confirmation of the pathogenicity of a mutation p.G337C in the COL1A2 gene associated with osteogenesis imperfecta. ( 28953610 )
2017
13
The effect of whole body vibration training on bone and muscle function in children with osteogenesis imperfecta. ( 28472303 )
2017
14
Response to letter: The effect of whole body vibration training on bone and muscle function in children with osteogenesis imperfecta. ( 28938474 )
2017
15
Next-Generation Sequencing Reveals One Novel Missense Mutation in COL1A2 Gene in an Iranian Family with Osteogenesis imperfecta ( 28431466 )
2017
16
Targeted exome sequencing identifies novel compound heterozygous mutations in P3H1 in a fetus with osteogenesis imperfecta type VIII. ( 27864101 )
2017
17
Compound heterozygous mutations in COL1A1 associated with an atypical form of type I osteogenesis imperfecta. ( 28436160 )
2017
18
How frequent is osteogenesis imperfecta in patients with idiopathic osteoporosis?: Case reports. ( 28858097 )
2017
19
Osteogenesis imperfecta Type IV: a newly identified variant at position c.560 (G > T; p.Gly187Val) in the COL1A2 gene. ( 28904723 )
2017
20
Osteogenesis imperfecta complicated with renal hypoplasia leads to chronic kidney disease. ( 28317307 )
2017
21
Muscle Function in Osteogenesis Imperfecta Type IV. ( 28474170 )
2017
22
Combined Spinal-Epidural Anesthesia With Dexmedetomidine-Based Sedation for Multiple Corrective Osteotomies in a Child With Osteogenesis Imperfecta Type III: A Case Report. ( 28448325 )
2017
23
A novel COL1A1 mutation causing a variant of osteogenesis imperfecta. ( 28872564 )
2017
24
Long-Term Bisphosphonate Therapy in Osteogenesis Imperfecta. ( 28823022 )
2017
25
Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta. ( 27789416 )
2017
26
Actual reason for bone fractures in the case of a patient followed-up with the osteogenesis imperfecta: Gaucher's Disease. ( 29354164 )
2017
27
Evaluation of Fracture and Osteotomy Union in the Setting of Osteogenesis Imperfecta: Reliability of the Modified Radiographic Union Score for Tibial Fractures (RUST). ( 28902000 )
2017
28
Application of nexta89generation sequencing for molecular diagnosis in a large family with osteogenesis imperfecta type I. ( 28901398 )
2017
29
Progressive Bilateral Vertebral Artery Dissection in a Case of Osteogenesis Imperfecta. ( 28089253 )
2017
30
Osteogenesis imperfecta type 3 in South Africa: Causative mutations in FKBP10. ( 28492130 )
2017
31
Osteogenesis imperfecta: diagnosis and treatment. ( 28863000 )
2017
32
Splenomegaly, myeloid lineage expansion and increased osteoclastogenesis in osteogenesis imperfecta murine. ( 28600151 )
2017
33
SURGICAL MANAGEMENT OF RETINAL DETACHMENT IN OSTEOGENESIS IMPERFECTA: CASE REPORT AND REVIEW OF THE LITERATURE. ( 28085759 )
2017
34
Surgical Treatment With Pedicle Screws of Scoliosis Associated With Osteogenesis Imperfecta in Children. ( 28882354 )
2017
35
Two novel mutations in the PPIB gene cause a rare pedigree of osteogenesis imperfecta type IX. ( 28242392 )
2017
36
Gene expression profiling of bone marrow mesenchymal stem cells from Osteogenesis Imperfecta patients during osteoblast differentiation. ( 28396251 )
2017
37
Comment on "The effect of whole body vibration training on bone and muscle function in children with osteogenesis imperfecta." ( 28938436 )
2017
38
Static postural control in youth with osteogenesis imperfecta type I. ( 28433416 )
2017
39
Clinical application of quantitative computed tomography in osteogenesis imperfecta suspected cat. ( 28057908 )
2017
40
A novel COL1A2 C-propeptide cleavage site mutation causing high bone mass osteogenesis imperfecta with a regional distribution pattern. ( 28916840 )
2017
41
Re-alignment and intramedullary rodding of the humerus and forearm in children with osteogenesis imperfecta: revision rate and effect on fracture rate. ( 28828061 )
2017
42
Molecular diagnosis in children with fractures but no extraskeletal signs of osteogenesis imperfecta. ( 28378289 )
2017
43
Total femur arthroplasty for revision hip failure in osteogenesis imperfecta: limits of biology. ( 28913398 )
2017
44
The Spine in Patients With Osteogenesis Imperfecta. ( 28009707 )
2017
45
Therapy with pamidronate in children with osteogenesis imperfecta. ( 28894358 )
2017
46
Application of 3-Dimensional Printing in a Case of Osteogenesis Imperfecta for Patient Education, Anatomic Understanding, Preoperative Planning, and Intraoperative Evaluation. ( 28823657 )
2017
47
Mutations in COL1A1 and COL1A2 and dental aberrations in children and adolescents with osteogenesis imperfecta - A retrospective cohort study. ( 28498836 )
2017
48
[Corrigendum] Clinical characteristics and the identification of novel mutations of COL1A1 and COL1A2 in 61A Chinese patients with osteogenesis imperfecta. ( 28035422 )
2017
49
Femoral and Lumbar Fractures During Rehabilitation for a Traumatic Spinal Cord Injury in Osteogenesis Imperfecta: A Case Presentation. ( 28483687 )
2017
50
Managing the patient with osteogenesis imperfecta: a multidisciplinary approach. ( 28435282 )
2017

Variations for Brittle Bone Disorder

ClinVar genetic disease variations for Brittle Bone Disorder:

6 (show all 35)
# Gene Variation Type Significance SNP ID Assembly Location
1 COL1A1 NM_000088.3(COL1A1): c.994G> A (p.Gly332Arg) single nucleotide variant Pathogenic rs72645357 GRCh37 Chromosome 17, 48273524: 48273524
2 COL1A1 NM_000088.3(COL1A1): c.787G> A (p.Gly263Arg) single nucleotide variant Pathogenic rs72645323 GRCh37 Chromosome 17, 48274388: 48274388
3 COL1A1 NM_000088.3(COL1A1): c.1544G> C (p.Gly515Ala) single nucleotide variant Likely pathogenic rs193922140 GRCh38 Chromosome 17, 50194419: 50194419
4 COL1A1 NM_000088.3(COL1A1): c.1583G> A (p.Arg528His) single nucleotide variant Likely pathogenic rs144751329 GRCh37 Chromosome 17, 48271741: 48271741
5 COL1A1 NM_000088.3(COL1A1): c.1021G> T (p.Gly341Cys) single nucleotide variant Likely pathogenic rs193922137 GRCh37 Chromosome 17, 48273319: 48273319
6 COL1A1 NM_000088.3(COL1A1): c.1200+1G> A single nucleotide variant Pathogenic rs72648320 GRCh37 Chromosome 17, 48272794: 48272794
7 COL1A1 NM_000088.3(COL1A1): c.1235C> G (p.Pro412Arg) single nucleotide variant Likely pathogenic rs193922138 GRCh37 Chromosome 17, 48272657: 48272657
8 COL1A1 NM_000088.3(COL1A1): c.1657delA (p.Thr553Leufs) deletion Likely pathogenic rs193922141 GRCh37 Chromosome 17, 48271502: 48271502
9 COL1A1 NM_000088.3(COL1A1): c.1812delT (p.Gly605Alafs) deletion Likely pathogenic rs193922143 GRCh37 Chromosome 17, 48270364: 48270364
10 COL1A1 NM_000088.3(COL1A1): c.2062C> T (p.Gln688Ter) single nucleotide variant Likely pathogenic rs193922144 GRCh37 Chromosome 17, 48269214: 48269214
11 COL1A1 NM_000088.3(COL1A1): c.2161C> T (p.Gln721Ter) single nucleotide variant Pathogenic/Likely pathogenic rs193922145 GRCh37 Chromosome 17, 48268818: 48268818
12 COL1A1 NM_000088.3(COL1A1): c.2398-1G> C single nucleotide variant Likely pathogenic rs193922147 GRCh37 Chromosome 17, 48267742: 48267742
13 COL1A1 NM_000088.3(COL1A1): c.2418delT (p.Gly809Alafs) deletion Likely pathogenic rs193922148 GRCh37 Chromosome 17, 48267721: 48267721
14 COL1A1 NM_000088.3(COL1A1): c.2450delC (p.Pro817Leufs) deletion Likely pathogenic rs193922149 GRCh37 Chromosome 17, 48267689: 48267689
15 COL1A1 NM_000088.3(COL1A1): c.2594G> A (p.Arg865His) single nucleotide variant Likely pathogenic rs193922150 GRCh37 Chromosome 17, 48267239: 48267239
16 COL1A1 NM_000088.3(COL1A1): c.2685delT (p.Gly896Alafs) deletion Pathogenic/Likely pathogenic rs193922151 GRCh37 Chromosome 17, 48266882: 48266882
17 COL1A1 NM_000088.3(COL1A1): c.2897A> G (p.Gln966Arg) single nucleotide variant Likely pathogenic rs193922152 GRCh37 Chromosome 17, 48266569: 48266569
18 COL1A1 NM_000088.3(COL1A1): c.299_300delAG (p.Glu100Valfs) deletion Likely pathogenic rs193922154 GRCh37 Chromosome 17, 48276950: 48276951
19 COL1A1 NM_000088.3(COL1A1): c.3076C> T (p.Arg1026Ter) single nucleotide variant Pathogenic rs72653173 GRCh37 Chromosome 17, 48266126: 48266126
20 COL1A1 NM_000088.3(COL1A1): c.370-2A> G single nucleotide variant Likely pathogenic rs193922155 GRCh37 Chromosome 17, 48276690: 48276690
21 COL1A1 NM_000088.3(COL1A1): c.517G> T (p.Gly173Ter) single nucleotide variant Likely pathogenic rs193922157 GRCh37 Chromosome 17, 48275820: 48275820
22 COL1A1 NM_000088.3(COL1A1): c.579delT (p.Gly194Valfs) deletion Pathogenic/Likely pathogenic rs72667023 GRCh37 Chromosome 17, 48275531: 48275531
23 COL1A1 NM_000088.3(COL1A1): c.751-2A> G single nucleotide variant Likely pathogenic rs193922158 GRCh37 Chromosome 17, 48274426: 48274426
24 COL1A1 NM_000088.3(COL1A1): c.805G> A (p.Gly269Ser) single nucleotide variant Likely pathogenic rs72645328 GRCh37 Chromosome 17, 48274031: 48274031
25 COL1A2 NM_000089.3(COL1A2): c.1148C> A (p.Pro383His) single nucleotide variant Likely pathogenic rs193922159 GRCh37 Chromosome 7, 94039790: 94039790
26 COL1A2 NM_000089.3(COL1A2): c.1873G> A (p.Gly625Ser) single nucleotide variant Likely pathogenic rs193922162 GRCh37 Chromosome 7, 94047045: 94047045
27 COL1A2 NM_000089.3(COL1A2): c.1991G> A (p.Gly664Asp) single nucleotide variant Likely pathogenic rs72658154 GRCh37 Chromosome 7, 94047830: 94047830
28 COL1A2 NM_000089.3(COL1A2): c.2827G> A (p.Gly943Arg) single nucleotide variant Likely pathogenic rs193922165 GRCh37 Chromosome 7, 94054967: 94054967
29 COL1A2 NM_000089.3(COL1A2): c.3106-2delA deletion Likely pathogenic rs193922166 GRCh37 Chromosome 7, 94056318: 94056318
30 COL1A2 NM_000089.3(COL1A2): c.3284delC (p.Pro1095Leufs) deletion Likely pathogenic rs193922167 GRCh37 Chromosome 7, 94056955: 94056955
31 COL1A2 NM_000089.3(COL1A2): c.3355G> C (p.Ala1119Pro) single nucleotide variant Likely pathogenic rs193922168 GRCh37 Chromosome 7, 94057026: 94057026
32 COL1A2 NM_000089.3(COL1A2): c.677G> A (p.Gly226Asp) single nucleotide variant Likely pathogenic rs193922173 GRCh37 Chromosome 7, 94037532: 94037532
33 COL1A2 NM_000089.3(COL1A2): c.838G> A (p.Gly280Ser) single nucleotide variant Pathogenic rs72656387 GRCh37 Chromosome 7, 94038679: 94038679
34 COL1A2 NM_000089.3(COL1A2): c.848_850delGTG (p.Gly283del) deletion Likely pathogenic rs193922175 GRCh37 Chromosome 7, 94038689: 94038691
35 COL1A1 NM_000088.3(COL1A1): c.3270delA (p.Gly1091Alafs) deletion Pathogenic GRCh37 Chromosome 17, 48265336: 48265336

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
12.82 COL1A1 COL1A2 COL2A1 FGFR3 IBSP
2
Show member pathways
12.74 COL1A1 COL1A2 COL2A1 COL3A1 IBSP
3
Show member pathways
12.67 COL1A1 COL1A2 COL2A1 COL3A1 CRTAP P3H1
4
Show member pathways
12.02 COL1A1 COL1A2 COL2A1 COL3A1 CRTAP DCN
5
Show member pathways
12.01 CD36 COL1A1 COL1A2 COL2A1 IBSP
6 11.86 COL1A1 COL1A2 COL3A1
7 11.79 COL1A1 COL3A1 SPARC
8 11.76 BGLAP COL2A1 DCN SPARC
9 11.74 COL1A1 COL1A2 COL3A1
10
Show member pathways
11.74 CD36 COL1A1 COL1A2 COL3A1 SPARC
11 11.72 COL1A1 COL1A2 COL3A1
12 11.53 COL2A1 FGFR3 PTH1R
13 11.51 DCN DSPP IBSP SPARC
14 11.44 COL1A1 COL1A2 COL2A1 COL3A1 SPARC
15 11.38 CD36 COL1A1 COL1A2 COL3A1
16 11.35 BGLAP COL1A1 PTH1R
17 11.22 BGLAP COL1A2 DCN
18 11.19 COL1A1 COL1A2 COL3A1
19 10.97 COL1A1 COL1A2
20 10.94 BGLAP COL1A1 COL1A2 IBSP PTH1R
21 10.85 COL1A1 COL1A2 COL2A1 COL3A1 FGFR3
22 10.6 BGLAP COL1A1 IBSP PTH1R

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 matrix GO:0031012 9.85 COL1A1 COL1A2 COL2A1 COL3A1 DCN IBSP
2 proteinaceous extracellular matrix GO:0005578 9.61 COL1A1 COL1A2 COL2A1 COL3A1 CRTAP DCN
3 collagen trimer GO:0005581 9.55 CD36 COL1A1 COL1A2 COL2A1 COL3A1
4 platelet alpha granule membrane GO:0031092 9.48 CD36 SPARC
5 collagen type I trimer GO:0005584 9.43 COL1A1 COL1A2
6 macromolecular complex GO:0032991 9.43 CRTAP P3H1 PPIB
7 endoplasmic reticulum lumen GO:0005788 9.28 BGLAP COL1A1 COL1A2 COL2A1 COL3A1 CRTAP
8 extracellular region GO:0005576 10.14 BGLAP COL1A1 COL1A2 COL2A1 COL3A1 DCN
9 endoplasmic reticulum GO:0005783 10.06 COL1A1 COL1A2 CRTAP FGFR3 FKBP10 P3H1
10 extracellular space GO:0005615 10.02 BGLAP CD36 COL1A1 COL1A2 COL2A1 COL3A1

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

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 regulation of immune response GO:0050776 9.89 COL1A1 COL1A2 COL2A1 COL3A1
2 aging GO:0007568 9.86 BGLAP COL3A1 DCN PTH1R
3 platelet activation GO:0030168 9.8 COL1A1 COL1A2 COL3A1
4 osteoblast differentiation GO:0001649 9.79 BGLAP COL1A1 IBSP
5 wound healing GO:0042060 9.78 COL1A1 COL3A1 DCN SPARC
6 collagen catabolic process GO:0030574 9.77 COL1A1 COL1A2 COL2A1 COL3A1 PEPD
7 cellular response to growth factor stimulus GO:0071363 9.76 BGLAP IBSP SPARC
8 response to mechanical stimulus GO:0009612 9.76 BGLAP COL1A1 COL3A1 DCN
9 cellular response to amino acid stimulus GO:0071230 9.74 COL1A1 COL1A2 COL3A1
10 chaperone-mediated protein folding GO:0061077 9.73 CRTAP FKBP10 P3H1 PPIB
11 ossification GO:0001503 9.73 BGLAP COL1A1 COL2A1 DSPP PTH1R SPARC
12 blood vessel development GO:0001568 9.72 COL1A1 COL1A2 COL3A1
13 bone development GO:0060348 9.72 BGLAP COL2A1 P3H1 PPIB SPARC
14 chondrocyte differentiation GO:0002062 9.71 COL2A1 FGFR3 PTH1R
15 collagen fibril organization GO:0030199 9.71 COL1A1 COL1A2 COL2A1 COL3A1
16 biomineral tissue development GO:0031214 9.7 BGLAP DSPP IBSP
17 endochondral ossification GO:0001958 9.69 COL1A1 COL2A1 FGFR3
18 regulation of bone mineralization GO:0030500 9.63 BGLAP IFITM5
19 osteoblast development GO:0002076 9.62 BGLAP PTH1R
20 protein heterotrimerization GO:0070208 9.61 COL1A1 COL1A2
21 response to gravity GO:0009629 9.61 BGLAP SPARC
22 skin morphogenesis GO:0043589 9.6 COL1A1 COL1A2
23 cartilage development involved in endochondral bone morphogenesis GO:0060351 9.58 COL1A1 COL2A1
24 extracellular matrix organization GO:0030198 9.56 COL1A1 COL1A2 COL2A1 COL3A1 DCN DSPP
25 bone mineralization GO:0030282 9.55 BGLAP FGFR3 IBSP IFITM5 PTH1R
26 negative regulation of post-translational protein modification GO:1901874 9.49 CRTAP P3H1
27 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 9.55 COL1A1 COL1A2 COL2A1 COL3A1 DSPP
2 protease binding GO:0002020 9.43 COL1A1 COL1A2 COL3A1
3 collagen binding GO:0005518 9.35 DCN DSPP P3H1 PPIB SPARC
4 platelet-derived growth factor binding GO:0048407 8.92 COL1A1 COL1A2 COL2A1 COL3A1

Sources for Brittle Bone Disorder

3 CDC
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10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
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