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OI
MCID: BRT054
MIFTS: 74

Brittle Bone Disorder (OI)

Categories: Bone diseases, Fetal 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 57 29 70
Osteogenesis Imperfecta 12 73 20 43 58 36 29 54 6 42 15 39 70 32
Brittle Bone Disease 12 73 20 43 58
Fragilitas Ossium 12 20 43
Osteopsathyrosis 12 20 58
Lobstein Disease 73 20 58
Oi 20 43 58
Porak and Durante Disease 20 58
Lobstein's Disease 6 70
Vrolik Disease 20 43
Osteogenesis Imperfecta, Recessive Perinatal Lethal 70
Osteogenesis Imperfecta, Dominant Perinatal Lethal 70
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:

MalaCards categories:
Global: Rare diseases Fetal diseases
Anatomical: Bone diseases
See all MalaCards categories (disease lists)
ICD10: 32 33
Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Sources

Summaries for Brittle Bone Disorder

About this section
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 development of the bones. People with this condition have bones that break easily, often from little or no trauma. However, the severity is different from person to person. Multiple fractures are common, and in severe cases, can even occur before birth. Milder cases may involve only a few fractures over a person's lifetime. People with OI may also have dental problems ( dentinogenesis imperfecta ) and hearing loss in adulthood. Other features may include muscle weakness, loose joints, and skeletal malformations. There are various recognized forms of OI which are distinguished by their features and genetic causes. Depending on the genetic cause, OI may be inherited in an autosomal dominant (more commonly) or autosomal recessive pattern. Diagnosis is based on the symptoms, clinical exam, imaging studies, and may be confirmed by the results of genetic testing. Treatment is focused on managing the symptoms 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 : 73 Osteogenesis imperfecta (OI), also known as brittle bone disease, is a group of genetic disorders that... more...

More information 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 543)
# Related Disease Score Top Affiliating Genes
1 osteogenesis imperfecta, type ii 34.1 P3H1 FKBP10 COL1A2 COL1A1
2 osteogenesis imperfecta, type i 34.0 PEPD 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 v 33.8 COL1A2 COL1A1
7 osteogenesis imperfecta, type vii 33.8 P3H1 COL1A2 COL1A1 BGLAP
8 osteogenesis imperfecta, type xii 33.7 SP7 SERPINF1 FKBP10
9 osteogenesis imperfecta, type xv 33.6 WNT10B WNT1
10 dentinogenesis imperfecta 33.6 WNT1 TMEM38B SPARC SP7 SERPINH1 SERPINF1
11 bruck syndrome 33.5 TMEM38B SERPINH1 SERPINF1 P3H1 FKBP10 COL1A2
12 cole-carpenter syndrome 33.1 TMEM38B SERPINF1 CREB3L1 COL1A2
13 high bone mass osteogenesis imperfecta 32.9 COL1A2 COL1A1 BMP1
14 col1a1/2 osteogenesis imperfecta 32.9 COL1A2 COL1A1
15 bone disease 32.9 SPARC SP7 IBSP COL2A1 COL1A1 BGLAP
16 connective tissue disease 32.8 SERPINH1 PEPD P3H1 IBSP DSPP COL3A1
17 osteoporosis, juvenile 32.7 WNT1 SPARC SP7 COL1A2 COL1A1 BGLAP
18 ehlers-danlos/osteogenesis imperfecta syndrome 32.6 COL1A2 COL1A1
19 dentin dysplasia, type ii 32.4 IBSP DSPP
20 scoliosis 32.3 FKBP10 COL2A1 COL1A2 COL1A1 BGLAP
21 bone resorption disease 32.1 SP7 IBSP COL1A2 COL1A1 BGLAP
22 ehlers-danlos syndrome, classic type, 1 32.0 DSPP COL3A1 COL1A2 COL1A1
23 osteochondrodysplasia 32.0 WNT1 TMEM38B SPARC SP7 SERPINH1 SERPINF1
24 otosclerosis 31.9 SERPINF1 COL1A2 COL1A1
25 osteoporosis 31.9 WNT1 SPARC SP7 SLC34A1 P3H1 IBSP
26 osteogenic sarcoma 31.7 SPARC SP7 IBSP BMP1 BGLAP
27 rickets 31.7 SLC34A1 IBSP DSPP BGLAP
28 hyperostosis 31.3 COL1A2 COL1A1 BMP1
29 fibrous dysplasia 31.3 SPARC IBSP BGLAP
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 stickler syndrome 31.1 COL2A1 COL1A2 COL1A1
36 collagen disease 31.0 COL3A1 COL2A1 COL1A2 COL1A1
37 cleidocranial dysplasia 31.0 SP7 IBSP COL1A1 BGLAP
38 hypophosphatemia 30.9 SLC34A1 DSPP BGLAP
39 hypermobility syndrome 30.8 PEPD COL3A1 COL1A1
40 van buchem disease 30.8 WNT10B WNT1 SP7 COL1A1 BGLAP
41 myositis ossificans 30.8 SPARC COL1A1 BMP1 BGLAP
42 hypophosphatemic rickets, x-linked dominant 30.7 SLC34A1 IBSP DSPP BGLAP
43 ehlers-danlos syndrome, arthrochalasia type, 2 30.7 COL1A2 COL1A1
44 osteogenesis imperfecta, type ix 11.9
45 osteogenesis imperfecta, type viii 11.9
46 osteogenesis imperfecta, type xi 11.9
47 osteogenesis imperfecta, type x 11.9
48 osteogenesis imperfecta, type xiii 11.9
49 osteogenesis imperfecta, type xiv 11.9
50 osteogenesis imperfecta, type xx 11.8

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:

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 20-May-2021)

UMLS symptoms related to Brittle Bone Disorder:


back pain; sciatica; muscle cramp

GenomeRNAi Phenotypes related to Brittle Bone Disorder according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.72 COL3A1
2 Decreased viability GR00221-A-2 9.72 COL3A1
3 Decreased viability GR00221-A-4 9.72 COL3A1 WNT1
4 Decreased viability GR00240-S-1 9.72 CREB3L1 DSPP SP7
5 Decreased viability GR00249-S 9.72 SERPINH1 WNT1 WNT10B
6 Decreased viability GR00301-A 9.72 WNT1
7 Decreased viability GR00381-A-1 9.72 DSPP FKBP10 SERPINF1 SERPINH1
8 Decreased viability GR00381-A-3 9.72 SERPINH1
9 Decreased viability GR00386-A-1 9.72 FKBP10 IBSP WNT1
10 Decreased viability GR00402-S-2 9.72 CREB3L1 DSPP FKBP10 P3H1 PEPD SP7

MGI Mouse Phenotypes related to Brittle Bone Disorder:

46 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.27 BGLAP BMP1 COL1A1 COL1A2 COL2A1 COL3A1
2 growth/size/body region MP:0005378 10.25 BMP1 COL1A1 COL1A2 COL2A1 COL3A1 CREB3L1
3 cardiovascular system MP:0005385 10.24 BMP1 COL1A1 COL1A2 COL2A1 COL3A1 FKBP10
4 hematopoietic system MP:0005397 10.18 BGLAP BMP1 COL1A1 COL1A2 COL3A1 CREB3L1
5 adipose tissue MP:0005375 10.16 BGLAP BMP1 COL1A1 COL1A2 COL2A1 COL3A1
6 digestive/alimentary MP:0005381 10.11 BMP1 COL1A1 COL2A1 COL3A1 IBSP PEPD
7 craniofacial MP:0005382 10.08 BMP1 COL1A1 COL2A1 FKBP10 IBSP SERPINH1
8 immune system MP:0005387 10.06 BGLAP BMP1 COL1A1 COL1A2 COL2A1 COL3A1
9 limbs/digits/tail MP:0005371 10 BMP1 COL1A1 COL1A2 COL2A1 FKBP10 IBSP
10 muscle MP:0005369 9.85 BMP1 COL1A1 COL1A2 COL3A1 P3H1 PEPD
11 skeleton MP:0005390 9.55 BGLAP BMP1 COL1A1 COL1A2 COL2A1 CREB3L1
12 respiratory system MP:0005388 9.5 COL1A1 COL2A1 COL3A1 SERPINH1 SP7 TMEM38B
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 all 47)
# 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
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 6221 5280795
8
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
9 Vitamin D2 Phase 4
10 Ergocalciferols Phase 4
11 calcium channel blockers Phase 4
12
Denosumab Approved Phase 3 615258-40-7
13
Vitamin D Approved, Nutraceutical, Vet_approved Phase 3 1406-16-2
14 Calcium, Dietary Phase 3
15 Calciferol Phase 3
16 Vitamins Phase 3
17
Calcium Nutraceutical Phase 3 7440-70-2 271
18
Calcium carbonate Approved, Investigational Phase 2 471-34-1
19 Immunoglobulins Phase 2
20 Antibodies Phase 2
21 Liver Extracts Phase 1, Phase 2
22
Miconazole Approved, Investigational, Vet_approved Phase 1 22916-47-8 4189
23
Clotrimazole Approved, Vet_approved Phase 1 23593-75-1 2812
24
Cyclophosphamide Approved, Investigational Phase 1 50-18-0, 6055-19-2 2907
25
Busulfan Approved, Investigational Phase 1 55-98-1 2478
26 Anti-Infective Agents Phase 1
27 Antirheumatic Agents Phase 1
28 Immunosuppressive Agents Phase 1
29 Alkylating Agents Phase 1
30 Antifungal Agents Phase 1
31 Cyclosporins Phase 1
32 Calcineurin Inhibitors Phase 1
33 Immunologic Factors Phase 1
34 Dermatologic Agents Phase 1
35 Trace Elements Phase 1
36 Nutrients Phase 1
37 Micronutrients Phase 1
38
Sodium citrate Approved, Investigational 68-04-2
39
Lithium carbonate Approved 554-13-2
40
Citric acid Approved, Nutraceutical, Vet_approved 77-92-9 311
41
Calcifediol Approved, Nutraceutical 19356-17-3 6433735 5283731
42 Psychotropic Drugs
43 Antidepressive Agents
44 Citrate
45 Diphosphonates
46 Hydroxycholecalciferols
47 Anabolic Agents

Interventional clinical trials:

(show top 50) (show all 55)
# Name Status NCT ID Phase Drugs
1 Effect of High-Dose Vitamin D on Bone Density in Osteogenesis Imperfecta Completed NCT01713231 Phase 4
2 Efficacy and Safety of Alendronate in Chinese Children or Adolescents With Osteogenesis Imperfecta: an Age Stratified Prospective Study Completed NCT02303873 Phase 4 Alendronate
3 Bisphosphonate Therapy for Osteogenesis Imperfecta Completed NCT00159419 Phase 4 Alendronate;Pamidronate
4 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
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 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
8 Studies of Growth Deficiency and Growth Hormone Treatment in Children With Osteogenesis Imperfecta Types III and IV Completed NCT00001305 Phase 3 Humatrope
9 A Trial of Pamidronate in Children With Osteogenesis Imperfecta Completed NCT00005901 Phase 3 Pamidronate (Aredia)
10 Safety and Efficacy of Risedronate in the Treatment of Osteogenesis Imperfecta in Children Completed NCT00106028 Phase 3 risedronate sodium (Actonel);Placebo
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 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
16 TRANSLATIONAL THERAPY IN PATIENTS WITH OSTEOGENESIS IMPERFECTA - A PILOT TRIAL ON TREATMENT WITH THE RANKL-ANTIBODY DENOSUMAB Completed NCT01799798 Phase 2 Denosumab
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 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). Completed NCT03118570 Phase 2 BPS804
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 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
22 The Effect of Treatment With Teriparatide and Zoledronic Acid in Patients With Osteogenesis Imperfecta Active, not recruiting NCT01679080 Phase 2 Zoledronic acid;Teriparatide
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 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
25 Treatment of Severe (Types II and III) Osteogenesis Imperfecta by Allogeneic Bone Marrow Transplantation Completed NCT00705120 Phase 1 Cyclophosphamide;Cyclosporin;Busulfan
26 Mesenchymal Stem Cell Based Therapy for the Treatment of Osteogenesis Imperfecta Completed NCT02172885 Phase 1
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 Evaluation and Intervention for Ambulation, Growth, and Basilar Invagination in Osteogenesis Imperfecta Completed NCT00001594
35 Marrow Mesenchymal Cell Therapy for Osteogenesis Imperfecta: A Pilot Study Completed NCT00187018
36 Whole Body Vibration as an Osteogenic Treatment for Children With Osteogenesis Imperfecta With Limited Mobility: A Randomised Controlled Pilot Trial Completed NCT03029312
37 Pregnancy in Osteogenesis Imperfecta (OI) Registry Completed NCT03072303
38 Prevention of Post Operative Bone Loss in Children Completed NCT00655681 pamidronate
39 NGS Strategy Effectiveness in Molecular Diagnosis Completed NCT03557567
40 Trial of Lithium Carbonate for Treatment of Osteoporosis Pseudoglioma Syndrome Completed NCT01108068 Lithium
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 A Natural History of the Collagen-Related Disorder Osteogenesis Imperfecta and the Genotype-Phenotype Correlation Recruiting NCT03575221
44 Non-invasive Blood Pressuring Monitoring in Patients With Osteogenesis Imperfecta: Does Circumferential Cuff Pressure Result in Fractures? Recruiting NCT04169568
45 Results of A Surgical Technique for Additional Proximal and Distal Locking for Fassier-Duval Telescoping Nail; A Comparative Study Recruiting NCT04694144
46 Epigenetic Regulation of Osteogenesis Imperfecta Severity : miROI Study Recruiting NCT04009733
47 Experimental Evaluation of Back Braces for the Treatment of Spinal Deformity Produced With 3D Printing Technology Recruiting NCT04282408
48 Investigations of Bone-Related Connective Tissue Disorders Recruiting NCT00076830
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 70 / NDF-RT 51 :


Calcitonin
salmon calcitonin
Sources

Genetic Tests for Brittle Bone Disorder

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Genetic tests related to Brittle Bone Disorder:

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

Anatomical Context for Brittle Bone Disorder

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MalaCards organs/tissues related to Brittle Bone Disorder:

40
Bone, Eye, Skin, Heart, Bone Marrow, Liver, Kidney
Sources

Publications for Brittle Bone Disorder

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Articles related to Brittle Bone Disorder:

(show top 50) (show all 4924)
# Title Authors PMID Year
1
Variable bone fragility associated with an Amish COL1A2 variant and a knock-in mouse model. 61 6 54
19594296 2010
2
Genetic skeletal disorders of the fetus and infant: pathologic and molecular findings in a series of 41 cases. 54 6 61
19637253 2009
3
Mutations in COL1A1 of type I collagen genes in Chinese patients with osteogenesis imperfecta. 6 54 61
19491628 2009
4
Two novel COL1A1 mutations in patients with osteogenesis imperfecta (OI) affect the stability of the collagen type I triple-helix. 54 6 61
18670065 2008
5
Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood. 61 54 6
17211858 2007
6
Osteogenesis imperfecta: clinical, biochemical and molecular findings. 61 54 6
16879195 2006
7
Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV. 6 54 61
16786509 2006
8
Total absence of the alpha2(I) chain of collagen type I causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problems. 61 6 54
16816023 2006
9
Mutational spectrum of type I collagen genes in Korean patients with osteogenesis imperfecta. 61 6 54
16705691 2006
10
[Mutation detection of COL1A1 gene in a pedigree with osteogenesis imperfecta]. 61 54 6
15931785 2005
11
Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients. 61 54 6
15241796 2004
12
Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway. 61 54 6
15077201 2004
13
Genetic and biochemical analyses of Israeli osteogenesis imperfecta patients. 61 6 54
15024745 2004
14
COL1A1 mutation analysis in Lithuanian patients with osteogenesis imperfecta. 54 61 6
12590186 2003
15
A single amino acid substitution (D1441Y) in the carboxyl-terminal propeptide of the proalpha1(I) chain of type I collagen results in a lethal variant of osteogenesis imperfecta with features of dense bone diseases. 54 61 6
11826020 2002
16
A novel Gly to Arg substitution at position 388 of the alpha1 chain of type I collagen in lethal form of osteogenesis imperfecta. 54 61 6
12362986 2002
17
Recurrent mutations in the COL1A2 gene in patients with osteogenesis imperfecta. 61 6 54
11359465 2001
18
Thirty-three novel COL1A1 and COL1A2 mutations in patients with osteogenesis imperfecta types I-IV. 6 61 54
11317364 2001
19
Prenatal diagnosis of a novel COL1A1 mutation in osteogenesis imperfecta type I carried through full term pregnancy. 6 61 54
11113887 2000
20
Tracking COL1A1 RNA in osteogenesis imperfecta. splice-defective transcripts initiate transport from the gene but are retained within the SC35 domain. 54 61 6
10931857 2000
21
Redefinition of exon 7 in the COL1A1 gene of type I collagen by an intron 8 splice-donor-site mutation in a form of osteogenesis imperfecta: influence of intron splice order on outcome of splice-site mutation. 61 54 6
10417276 1999
22
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. 6 54 61
9923651 1998
23
Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: identification of common sequences of null-allele mutations. 54 61 6
9443882 1998
24
Dental manifestations of osteogenesis imperfecta and abnormalities of collagen I metabolism. 54 61 6
9594376 1998
25
Homozygosity by descent for a COL1A2 mutation in two sibs with severe osteogenesis imperfecta and mild clinical expression in the heterozygotes. 6 61 54
9099837 1997
26
Two new recurrent nucleotide mutations in the COL1A1 gene in four patients with osteogenesis imperfecta: about one-fifth are recurrent. 6 54 61
9067755 1997
27
(G586V) substitutions in the alpha 1 and alpha 2 chains of collagen I: effect of alpha-chain stoichiometry on the phenotype of osteogenesis imperfecta? 54 61 6
9143923 1997
28
Alternative splicing in COL1A1 mRNA leads to a partial null allele and two In-frame forms with structural defects in non-lethal osteogenesis imperfecta. 6 54 61
8910493 1996
29
Substitution of glycine-661 by serine in the alpha1(I) and alpha2(I) chains of type I collagen results in different clinical and biochemical phenotypes. 6 61 54
8786074 1996
30
Nuclear retention of COL1A1 messenger RNA identifies null alleles causing mild osteogenesis imperfecta. 61 54 6
8613526 1996
31
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
32
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 61 6
8723681 1996
33
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. 54 61 6
8669434 1996
34
Recurrence of osteogenesis imperfecta because of paternal mosaicism: Gly862-->Ser substitution in a type I collagen gene (COL1A1). 54 6 61
7789952 1995
35
A Gly238Ser substitution in the alpha 2 chain of type I collagen results in osteogenesis imperfecta type III. 54 61 6
7860070 1995
36
Determination of a new collagen type I alpha 2 gene point mutation which causes a Gly640 Cys substitution in osteogenesis imperfecta and prenatal diagnosis by DNA hybridisation. 54 61 6
7891382 1994
37
Three unrelated individuals with perinatally lethal osteogenesis imperfecta resulting from identical Gly502Ser substitutions in the alpha 2-chain of type I collagen. 61 54 6
7959683 1994
38
Defective splicing of mRNA from one COL1A1 allele of type I collagen in nondeforming (type I) osteogenesis imperfecta. 6 61 54
8408653 1993
39
Mutations in the carboxyl-terminal propeptide of the pro alpha 1(I) chain of type I collagen result in defective chain association and produce lethal osteogenesis imperfecta. 6 54 61
8349697 1993
40
Osteogenesis imperfecta type III: mutations in the type I collagen structural genes, COL1A1 and COL1A2, are not necessarily responsible. 61 6 54
8100856 1993
41
A single amino acid deletion in the alpha 2(I) chain of type I collagen produces osteogenesis imperfecta type III. 61 6 54
8444468 1993
42
Homology-mediated recombination between type I collagen gene exons results in an internal tandem duplication and lethal osteogenesis imperfecta. 6 61 54
8097422 1993
43
Paternal mosaicism for a COL1A1 dominant mutation (alpha 1 Ser-415) causes recurrent osteogenesis imperfecta. 61 54 6
8364588 1993
44
Moderately severe osteogenesis imperfecta associated with substitutions of serine for glycine in the alpha 1(I) chain of type I collagen. 61 6 54
8456809 1993
45
A dominant mutation in the COL1A1 gene that substitutes glycine for valine causes recurrent lethal osteogenesis imperfecta. 54 61 6
1511982 1992
46
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. 61 6 54
1613761 1992
47
An osteopenic nonfracture syndrome with features of mild osteogenesis imperfecta associated with the substitution of a cysteine for glycine at triple helix position 43 in the pro alpha 1(I) chain of type I collagen. 6 54 61
1737847 1992
48
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
49
A 9-base pair deletion in COL1A1 in a lethal variant of osteogenesis imperfecta. 6 61 54
1939261 1991
50
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. 61 6 54
2035536 1991
Sources

Variations for Brittle Bone Disorder

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ClinVar genetic disease variations for Brittle Bone Disorder:

6 (show top 50) (show all 1844)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 WNT1 NM_005430.4(WNT1):c.624+4A>G SNV Pathogenic 50258 rs387907354 GRCh37: 12:49374476-49374476
GRCh38: 12:48980693-48980693
2 WNT1 NM_005430.4(WNT1):c.565G>T (p.Glu189Ter) SNV Pathogenic 50259 rs387907355 GRCh37: 12:49374413-49374413
GRCh38: 12:48980630-48980630
3 WNT1 NM_005430.4(WNT1):c.1063G>T (p.Val355Phe) SNV Pathogenic 50262 rs387907358 GRCh37: 12:49375373-49375373
GRCh38: 12:48981590-48981590
4 WNT1 NM_005430.4(WNT1):c.1026del (p.Glu343fs) Deletion Pathogenic 180210 rs727505392 GRCh37: 12:49375335-49375335
GRCh38: 12:48981552-48981552
5 SPARC NM_003118.4(SPARC):c.787G>A (p.Glu263Lys) SNV Pathogenic 372141 rs1057517663 GRCh37: 5:151043744-151043744
GRCh38: 5:151664183-151664183
6 SPARC NM_003118.4(SPARC):c.497G>A (p.Arg166His) SNV Pathogenic 372140 rs1057517662 GRCh37: 5:151047116-151047116
GRCh38: 5:151667555-151667555
7 CREB3L1 NM_052854.4(CREB3L1):c.1284C>A (p.Tyr428Ter) SNV Pathogenic 559484 rs779809838 GRCh37: 11:46341840-46341840
GRCh38: 11:46320289-46320289
8 FKBP10 NM_021939.3(FKBP10):c.976del (p.Met326fs) Deletion Pathogenic 222952 rs869025223 GRCh37: 17:39975840-39975840
GRCh38: 17:41819588-41819588
9 BMP1 NM_006129.5(BMP1):c.747C>G (p.Phe249Leu) SNV Pathogenic 37306 rs398122891 GRCh37: 8:22035381-22035381
GRCh38: 8:22177868-22177868
10 BMP1 NM_006129.5(BMP1):c.34G>C (p.Gly12Arg) SNV Pathogenic 37307 rs318240762 GRCh37: 8:22022952-22022952
GRCh38: 8:22165439-22165439
11 WNT1 NM_005430.4(WNT1):c.859dup (p.His287fs) Duplication Pathogenic 50257 rs387907353 GRCh37: 12:49375163-49375164
GRCh38: 12:48981380-48981381
12 WNT1 NM_005430.4(WNT1):c.946_949dup (p.Ser317fs) Duplication Pathogenic 50261 rs387907357 GRCh37: 12:49375255-49375256
GRCh38: 12:48981472-48981473
13 BMP1 NM_006129.5(BMP1):c.2108-359T>C SNV Pathogenic 190231 rs786205217 GRCh37: 8:22058957-22058957
GRCh38: 8:22201444-22201444
14 BMP1 NM_006129.5(BMP1):c.2107G>C (p.Asp703His) SNV Pathogenic 190232 rs786205218 GRCh37: 8:22054933-22054933
GRCh38: 8:22197420-22197420
15 BMP1 NM_006129.5(BMP1):c.808A>G (p.Met270Val) SNV Pathogenic 190233 rs786205219 GRCh37: 8:22035442-22035442
GRCh38: 8:22177929-22177929
16 BMP1 NM_006129.5(BMP1):c.1297G>T (p.Ala433Ser) SNV Pathogenic 190234 rs786205220 GRCh37: 8:22051687-22051687
GRCh38: 8:22194174-22194174
17 CREB3L1 NM_052854.4(CREB3L1):c.911C>T (p.Ala304Val) SNV Pathogenic 982569 GRCh37: 11:46334170-46334170
GRCh38: 11:46312619-46312619
18 TMEM38B NM_018112.3(TMEM38B):c.454+279_543-5092delinsAATTAAGGTATA Indel Pathogenic 39494 GRCh37: 9:108484281-108505262
GRCh38: 9:105722000-105742981
19 WNT1 NM_005430.4(WNT1):c.884C>A (p.Ser295Ter) SNV Pathogenic 50260 rs387907356 GRCh37: 12:49375194-49375194
GRCh38: 12:48981411-48981411
20 SPARC NM_003118.4(SPARC):c.891C>T (p.Ile297=) SNV Pathogenic 733843 rs148883169 GRCh37: 5:151043153-151043153
GRCh38: 5:151663592-151663592
21 COL1A2 COL1A2, DEL 7EX, CODONS 586-765 Deletion Pathogenic 17238 GRCh37: 7:94048198-94052613
GRCh38: 7:94418886-94423301
22 COL1A2 NM_000089.3(COL1A2):c.2720G>A (p.Gly907Asp) SNV Pathogenic 17239 rs121912900 GRCh37: 7:94054475-94054475
GRCh38: 7:94425163-94425163
23 COL1A2 COL1A2, EX33DEL Deletion Pathogenic 17240 GRCh37:
GRCh38:
24 COL1A2 NM_000089.3(COL1A2):c.1640G>A (p.Gly547Asp) SNV Pathogenic 17241 rs121912901 GRCh37: 7:94043234-94043234
GRCh38: 7:94413922-94413922
25 COL1A2 NM_000089.3(COL1A2):c.2593G>A (p.Gly865Ser) SNV Pathogenic 17242 rs121912902 GRCh37: 7:94053675-94053675
GRCh38: 7:94424363-94424363
26 COL1A2 COL1A2, GLY976ASP Variation Pathogenic 17245 GRCh37:
GRCh38:
27 COL1A2 NM_000089.3(COL1A2):c.2414G>A (p.Gly805Asp) SNV Pathogenic 17246 rs121912904 GRCh37: 7:94052279-94052279
GRCh38: 7:94422967-94422967
28 COL1A2 COL1A2, EX28DEL Deletion Pathogenic 17248 GRCh37:
GRCh38:
29 COL1A2 NM_000089.3(COL1A2):c.1414G>T (p.Gly472Cys) SNV Pathogenic 17249 rs121912906 GRCh37: 7:94041905-94041905
GRCh38: 7:94412593-94412593
30 COL1A2 NM_000089.4(COL1A2):c.2025+5G>A SNV Pathogenic 17252 rs72658157 GRCh37: 7:94047869-94047869
GRCh38: 7:94418557-94418557
31 COL1A2 NM_000089.3(COL1A2):c.2080G>C (p.Gly694Arg) SNV Pathogenic 17254 rs121912908 GRCh37: 7:94049545-94049545
GRCh38: 7:94420233-94420233
32 COL1A2 NM_000089.3(COL1A2):c.1739G>A (p.Gly580Asp) SNV Pathogenic 17257 rs121912909 GRCh37: 7:94044557-94044557
GRCh38: 7:94415245-94415245
33 COL1A2 NM_000089.3(COL1A2):c.1504G>A (p.Gly502Ser) SNV Pathogenic 17262 rs121912910 GRCh37: 7:94042395-94042395
GRCh38: 7:94413083-94413083
34 COL1A2 NM_000089.3(COL1A2):c.1262G>A (p.Gly421Asp) SNV Pathogenic 17281 rs267606741 GRCh37: 7:94040378-94040378
GRCh38: 7:94411066-94411066
35 COL1A1 NM_000088.3(COL1A1):c.824G>A (p.Gly275Asp) SNV Pathogenic 17284 rs72645333 GRCh37: 17:48274012-48274012
GRCh38: 17:50196651-50196651
36 COL1A1 NM_000088.3(COL1A1):c.1705G>C (p.Gly569Arg) SNV Pathogenic 17287 rs72648363 GRCh37: 17:48271366-48271366
GRCh38: 17:50194005-50194005
37 COL1A1 NM_000088.3(COL1A1):c.2210G>A (p.Gly737Asp) SNV Pathogenic 17289 rs72651651 GRCh37: 17:48268769-48268769
GRCh38: 17:50191408-50191408
38 COL1A1 NM_000088.3(COL1A1):c.2552G>A (p.Gly851Asp) SNV Pathogenic 17290 rs72653137 GRCh37: 17:48267369-48267369
GRCh38: 17:50190008-50190008
39 COL1A1 NM_000088.3(COL1A1):c.2605G>T (p.Gly869Cys) SNV Pathogenic 17292 rs72653143 GRCh37: 17:48267228-48267228
GRCh38: 17:50189867-50189867
40 COL1A1 NM_000088.3(COL1A1):c.2686G>T (p.Gly896Cys) SNV Pathogenic 17293 rs72653152 GRCh37: 17:48266881-48266881
GRCh38: 17:50189520-50189520
41 COL1A1 NM_000088.3(COL1A1):c.2776G>T (p.Gly926Cys) SNV Pathogenic 17294 rs72653154 GRCh37: 17:48266791-48266791
GRCh38: 17:50189430-50189430
42 COL1A1 NM_000088.3(COL1A1):c.3073G>A (p.Gly1025Arg) SNV Pathogenic 17297 rs72653172 GRCh37: 17:48266129-48266129
GRCh38: 17:50188768-50188768
43 COL1A1 NM_000088.3(COL1A1):c.3182G>A (p.Gly1061Asp) SNV Pathogenic 17298 rs72654797 GRCh37: 17:48265916-48265916
GRCh38: 17:50188555-50188555
44 COL1A1 NM_000088.3(COL1A1):c.3244G>T (p.Gly1082Cys) SNV Pathogenic 17299 rs72656303 GRCh37: 17:48265474-48265474
GRCh38: 17:50188113-50188113
45 COL1A1 NM_000088.3(COL1A1):c.3271G>A (p.Gly1091Ser) SNV Pathogenic 17300 rs72656306 GRCh37: 17:48265335-48265335
GRCh38: 17:50187974-50187974
46 COL1A1 NM_000088.3(COL1A1):c.3496G>T (p.Gly1166Cys) SNV Pathogenic 17301 rs72656324 GRCh37: 17:48264411-48264411
GRCh38: 17:50187050-50187050
47 COL1A1 NM_000088.3(COL1A1):c.3559G>A (p.Gly1187Ser) SNV Pathogenic 17302 rs72656332 GRCh37: 17:48264256-48264256
GRCh38: 17:50186895-50186895
48 COL1A1 COL1A1, 9-BP DEL Deletion Pathogenic 17306 GRCh37:
GRCh38:
49 COL1A1 COL1A1, 1-BP INS, 4088T Insertion Pathogenic 17308 GRCh37:
GRCh38:
50 COL1A1 NM_000088.3(COL1A1):c.2156G>A (p.Gly719Asp) SNV Pathogenic 17310 rs72651646 GRCh37: 17:48268823-48268823
GRCh38: 17:50191462-50191462
Sources

Expression for Brittle Bone Disorder

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

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

(show all 20)
# Super pathways Score Top Affiliating Genes
1
PI3K-Akt signaling pathway 36
Show member pathways
 12.81 WNT10B WNT1 IBSP CREB3L1 COL2A1 COL1A2
2
Focal Adhesion 36 1
Show member pathways
 12.73 IBSP COL3A1 COL2A1 COL1A2 COL1A1
3
Collagen chain trimerization 65
Show member pathways
 12.6 SERPINH1 P3H1 COL3A1 COL2A1 COL1A2 COL1A1
4
Proteoglycans in cancer 36
12.14 WNT10B WNT1 COL1A2 COL1A1
5
Degradation of the extracellular matrix 65
Show member pathways
 11.98 SPARC SERPINH1 P3H1 IBSP DSPP COL3A1
6
ECM-receptor interaction 36
Show member pathways
 11.96 IBSP DSPP COL2A1 COL1A2 COL1A1
7
Platelet activation 36
11.86 COL3A1 COL1A2 COL1A1
8
Senescence and Autophagy in Cancer 1
11.79 SPARC COL3A1 COL1A1
9
Parathyroid hormone synthesis, secretion and action 36
11.78 SLC34A1 CREB3L1 BGLAP
10
Binding and Uptake of Ligands by Scavenger Receptors 65
Show member pathways
 11.77 SPARC COL3A1 COL1A2 COL1A1
11
Amoebiasis 36
11.74 COL3A1 COL1A2 COL1A1
12
AGE-RAGE signaling pathway in diabetic complications 36
11.72 COL3A1 COL1A2 COL1A1
13
Mesenchymal Stem Cell Differentiation Pathways and Lineage-specific Markers 64
11.53 WNT10B SPARC SP7 COL2A1 BGLAP
14
ECM proteoglycans 65
11.44 SPARC IBSP DSPP
15
Platelet Aggregation Inhibitor Pathway, Pharmacodynamics 60
11.38 COL3A1 COL1A2 COL1A1
16
Inflammatory Response Pathway 1
11.17 COL3A1 COL1A2 COL1A1
17
Development_Hedgehog and PTH signaling pathways in bone and cartilage development 23
11.15 IBSP COL1A2 COL1A1 BGLAP
18
Cell adhesion_ECM remodeling 23
11.14 SPARC COL3A1 COL2A1 COL1A2 COL1A1
19
G-protein signaling_Rap2B regulation pathway 23
10.84 COL3A1 COL2A1 COL1A2 COL1A1 BMP1
20
Osteoblast Signaling 1
10.73 IBSP COL1A1 BGLAP
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 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 metal ion binding GO:0046872 10.06 SPARC SP7 PEPD P3H1 FKBP10 COL3A1
2 collagen binding GO:0005518 9.56 SPARC SERPINH1 P3H1 DSPP
3 protease binding GO:0002020 9.54 COL3A1 COL1A2 COL1A1
4 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.46 COL3A1 COL2A1 COL1A2 COL1A1
5 extracellular matrix structural constituent GO:0005201 9.43 SPARC DSPP COL3A1 COL2A1 COL1A2 COL1A1
6 platelet-derived growth factor binding GO:0048407 8.92 COL3A1 COL2A1 COL1A2 COL1A1
Sources

Sources for Brittle Bone Disorder

About this section
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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 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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