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OI
MCID: BRT054
MIFTS: 70

Brittle Bone Disorder (OI)

Categories: Bone diseases, Fetal diseases, Oral diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Brittle Bone Disorder

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MalaCards integrated aliases for Brittle Bone Disorder:

Name: Brittle Bone Disorder 57 73
Osteogenesis Imperfecta 12 76 53 25 59 37 29 55 6 43 44 15 40 73
Brittle Bone Disease 12 76 53 25 59
Fragilitas Ossium 12 53 25
Osteopsathyrosis 12 53 59
Lobstein Disease 76 53 59
Oi 53 25 59
Porak and Durante Disease 53 59
Vrolik Disease 53 25
Osteogenesis Imperfecta, Recessive Perinatal Lethal 73
Osteogenesis Imperfecta, Dominant Perinatal Lethal 73
Lobstein's Syndrome 12
Glass Bone Disease 59
Lobstein's Disease 73
Vrolik's Disease 12

Characteristics:

Orphanet epidemiological data:

59
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: 33 34
Orphanet: 59  
Rare bone diseases
Developmental anomalies during embryogenesis


Sources

Summaries for Brittle Bone Disorder

About this section
MedlinePlus : 43 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 COL1A1 (Collagen Type I Alpha 1 Chain), and among its related pathways/superpathways are PI3K-Akt signaling pathway and Focal Adhesion. Affiliated tissues include bone, skin and testes, and related phenotypes are macrocephaly and pectus excavatum

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 : 25 Osteogenesis imperfecta (OI) is a group of genetic disorders that mainly affect the bones. The term "osteogenesis imperfecta" means imperfect bone formation. People with this condition have bones that break 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 : 53 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 : 76 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 252)
# Related Disease Score Top Affiliating Genes
1 osteogenesis imperfecta, type xi 34.5 CRTAP FKBP10
2 osteogenesis imperfecta, type viii 34.4 COL1A1 COL1A2 CRTAP P3H1
3 osteogenesis imperfecta, type vi 34.4 COL1A1 IFITM5 TMEM38B
4 osteogenesis imperfecta, type vii 34.2 CD36 COL1A1 COL1A2 CRTAP PTH1R
5 osteogenesis imperfecta, type v 34.2 CD36 COL1A1 COL1A2 IBSP IFITM5
6 osteogenesis imperfecta, type i 34.2 BGLAP CD36 COL1A1 COL1A2 FGFR3 PEPD
7 high bone mass osteogenesis imperfecta 34.0 COL1A1 COL1A2
8 ehlers-danlos/osteogenesis imperfecta syndrome 33.7 COL1A1 COL1A2
9 osteogenesis imperfecta, type ii 33.6 CD36 COL1A1 COL1A2 CRTAP FGFR3 P3H1
10 osteogenesis imperfecta, type iii 33.5 BGLAP CD36 COL1A1 COL1A2 CRTAP FKBP10
11 osteogenesis imperfecta, type iv 33.1 CD36 COL1A1 COL1A2 CRTAP DSPP FKBP10
12 dentinogenesis imperfecta 32.7 COL1A1 COL1A2 CRTAP DSPP FKBP10 IFITM5
13 osteoporosis, juvenile 32.5 BGLAP CD36 COL1A1
14 coxa vara 32.4 COL2A1 CRTAP
15 bruck syndrome 32.3 CD36 COL1A1 COL1A2 CRTAP FKBP10 IFITM5
16 dentin dysplasia, type ii 32.1 DSPP IBSP
17 connective tissue disease 31.8 COL1A1 COL1A2 COL3A1 IBSP P3H1 PPIB
18 bone disease 31.5 BGLAP CD36 COL1A1 COL2A1 FGFR3 IBSP
19 ehlers-danlos syndrome 31.0 COL1A1 COL1A2 COL3A1
20 otosclerosis 30.8 CD36 COL1A1 COL1A2 PTH1R
21 scoliosis 30.7 COL1A1 COL1A2 COL2A1 FGFR3
22 fibrous dysplasia 30.6 BGLAP IBSP SPARC
23 osteoporosis 30.2 BGLAP CD36 COL1A1 COL1A2 COL2A1 IBSP
24 bone resorption disease 30.2 BGLAP COL1A1 IBSP
25 marfan syndrome 30.1 COL1A2 COL3A1 DCN
26 skeletal dysplasias 30.1 COL2A1 FGFR3 PTH1R
27 osteogenesis imperfecta, type ix 12.9
28 osteogenesis imperfecta, type x 12.9
29 osteogenesis imperfecta, type xiv 12.8
30 osteogenesis imperfecta, type xv 12.8
31 osteogenesis imperfecta, type xii 12.8
32 osteogenesis imperfecta, type xiii 12.8
33 osteogenesis imperfecta, type xvi 12.7
34 osteogenesis imperfecta, type xvii 12.7
35 osteogenesis imperfecta, type xviii 12.6
36 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones, but without fractures 12.6
37 col1a1/2-related osteogenesis imperfecta 12.5
38 osteogenesis imperfecta, type xix 12.4
39 osteogenesis imperfecta levin type 12.4
40 osteogenesis imperfecta congenita, microcephaly, and cataracts 12.4
41 osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome 12.2
42 bruck syndrome 2 12.1
43 dentinogenesis imperfecta 1 12.0
44 osteoporosis-pseudoglioma syndrome 11.9
45 bruck syndrome 1 11.8
46 al gazali sabrinathan nair syndrome 11.8
47 cole-carpenter syndrome 11.7
48 gnathodiaphyseal dysplasia 11.5
49 gracile bone dysplasia 11.5
50 orthostatic intolerance 11.3

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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Clinical features from OMIM:

603828

Human phenotypes related to Brittle Bone Disorder:

59 32 (show top 50) (show all 55)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000256
2 pectus excavatum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000767
3 genu valgum 59 32 frequent (33%) Frequent (79-30%) HP:0002857
4 osteopenia 59 32 frequent (33%) Frequent (79-30%) HP:0000938
5 hyperhidrosis 59 32 frequent (33%) Frequent (79-30%) HP:0000975
6 gait disturbance 59 32 hallmark (90%) Very frequent (99-80%) HP:0001288
7 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
8 kyphosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002808
9 inguinal hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000023
10 hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000365
11 corneal opacity 59 32 frequent (33%) Frequent (79-30%) HP:0007957
12 carious teeth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000670
13 pectus carinatum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000768
14 umbilical hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001537
15 abnormal cortical bone morphology 59 32 frequent (33%) Frequent (79-30%) HP:0003103
16 visual impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000505
17 short stature 59 32 occasional (7.5%) Occasional (29-5%) HP:0004322
18 osteoporosis 59 32 frequent (33%) Frequent (79-30%) HP:0000939
19 brachycephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000248
20 micrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000347
21 abnormality of the metaphysis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000944
22 dentinogenesis imperfecta 59 32 hallmark (90%) Very frequent (99-80%) HP:0000703
23 narrow chest 59 32 frequent (33%) Frequent (79-30%) HP:0000774
24 micromelia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002983
25 joint hyperflexibility 59 32 frequent (33%) Frequent (79-30%) HP:0005692
26 wormian bones 59 32 occasional (7.5%) Occasional (29-5%) HP:0002645
27 prominent occiput 59 32 hallmark (90%) Very frequent (99-80%) HP:0000269
28 diaphyseal thickening 59 32 hallmark (90%) Very frequent (99-80%) HP:0005019
29 intrauterine growth retardation 59 32 hallmark (90%) Very frequent (99-80%) HP:0001511
30 thrombocytopenia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001873
31 thin ribs 59 32 hallmark (90%) Very frequent (99-80%) HP:0000883
32 glaucoma 59 32 frequent (33%) Frequent (79-30%) HP:0000501
33 visceral angiomatosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0100761
34 protrusio acetabuli 59 32 frequent (33%) Frequent (79-30%) HP:0003179
35 abnormality of dental enamel 59 32 hallmark (90%) Very frequent (99-80%) HP:0000682
36 recurrent fractures 59 32 occasional (7.5%) Occasional (29-5%) HP:0002757
37 convex nasal ridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000444
38 large fontanelles 59 32 frequent (33%) Frequent (79-30%) HP:0000239
39 triangular face 59 32 frequent (33%) Frequent (79-30%) HP:0000325
40 blue sclerae 59 32 hallmark (90%) Very frequent (99-80%) HP:0000592
41 abnormality of dental color 59 32 hallmark (90%) Very frequent (99-80%) HP:0011073
42 decreased skull ossification 59 32 hallmark (90%) Very frequent (99-80%) HP:0004331
43 abnormality of tibia morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0002992
44 femoral bowing 59 32 frequent (33%) Frequent (79-30%) HP:0002980
45 slender long bone 59 32 frequent (33%) Frequent (79-30%) HP:0003100
46 biconcave vertebral bodies 59 32 frequent (33%) Frequent (79-30%) HP:0004586
47 bowing of the long bones 59 Frequent (79-30%)
48 abnormality of the dentition 59 Very frequent (99-80%)
49 malformation of the heart and great vessels 59 Frequent (79-30%)
50 abnormal form of the vertebral bodies 59 Frequent (79-30%)

UMLS symptoms related to Brittle Bone Disorder:


back pain, sciatica, muscle cramp

MGI Mouse Phenotypes related to Brittle Bone Disorder:

46 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.4 CD36 COL1A1 COL1A2 COL2A1 COL3A1 CRTAP
2 homeostasis/metabolism MP:0005376 10.3 CD36 COL1A1 COL1A2 COL2A1 COL3A1 DCN
3 craniofacial MP:0005382 10.22 COL1A1 COL2A1 DCN FGFR3 FKBP10 IBSP
4 cardiovascular system MP:0005385 10.19 CD36 COL1A1 COL1A2 COL2A1 COL3A1 FKBP10
5 hematopoietic system MP:0005397 10.18 CD36 COL1A1 DCN FGFR3 FKBP10 IBSP
6 immune system MP:0005387 10.17 CD36 COL1A1 COL2A1 COL3A1 DCN FGFR3
7 mortality/aging MP:0010768 10.13 CD36 COL1A1 COL1A2 COL2A1 COL3A1 DCN
8 digestive/alimentary MP:0005381 10.11 CD36 COL1A1 COL2A1 COL3A1 DCN FGFR3
9 limbs/digits/tail MP:0005371 10.11 COL1A1 COL1A2 COL2A1 FGFR3 FKBP10 IBSP
10 integument MP:0010771 10.06 COL1A1 COL1A2 COL3A1 DCN FGFR3 P3H1
11 adipose tissue MP:0005375 10.02 CD36 COL1A1 COL1A2 COL2A1 COL3A1 P3H1
12 muscle MP:0005369 9.86 CD36 COL1A1 COL1A2 COL3A1 DCN P3H1
13 skeleton MP:0005390 9.8 CD36 COL1A1 COL1A2 COL2A1 CRTAP DCN
14 respiratory system MP:0005388 9.7 COL1A1 COL2A1 COL3A1 DCN FGFR3 PTH1R
15 vision/eye MP:0005391 9.17 CD36 COL1A1 COL2A1 DCN FGFR3 PTH1R
Sources

Drugs & Therapeutics for Brittle Bone Disorder

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Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Osteogenesis Imperfecta (OI) Quality of Life Survey Pilot Project 2 Completed NCT02793063
2 Pregnancy in Osteogenesis Imperfecta (OI) Registry Active, not recruiting NCT03072303
3 BBD Longitudinal Study of Osteogenesis Imperfecta Recruiting NCT02432625

Search NIH Clinical Center for Brittle Bone Disorder

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Cochrane evidence based reviews: osteogenesis imperfecta

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
Sources

Anatomical Context for Brittle Bone Disorder

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MalaCards organs/tissues related to Brittle Bone Disorder:

41
Bone, Skin, Testes, Eye, Bone Marrow, Heart, Liver
Sources

Publications for Brittle Bone Disorder

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Articles related to Brittle Bone Disorder:

(show top 50) (show all 1540)
# Title Authors Year
1
Incorporating the patient perspective in the study of rare bone disease: insights from the osteogenesis imperfecta community. ( 30191258 )
2018
2
Osteogenesis imperfecta and keratoconus in an Italian family. ( 28971516 )
2018
3
Efficacy and Safety of Denosumab Therapy for Osteogenesis Imperfecta Patients with Osteoporosis-Case Series. ( 30477250 )
2018
4
Comparison of Bone Microarchitecture Between Adult Osteogenesis Imperfecta and Early-Onset Osteoporosis. ( 29946973 )
2018
5
The use of magnetically controlled growing rods in paediatric Osteogenesis Imperfecta with early onset, progressive scoliosis. ( 29644031 )
2018
6
Anesthetic considerations for scoliosis surgery in a patient with recessive severe/lethal form of osteogenesis imperfecta. ( 30117226 )
2018
7
Development of scoliosis in young children with osteogenesis imperfecta undergoing intravenous bisphosphonate therapy. ( 30187275 )
2018
8
Expert's comment concerning Grand Rounds case entitled "Type V osteogenesis imperfecta undergoing surgical correction for scoliosis" by M. Jones et al. (Eur Spine J; 2018: doi 10.1007/s00586-018-5465-8). ( 29388091 )
2018
9
Type V osteogenesis imperfecta undergoing surgical correction for scoliosis. ( 29460010 )
2018
10
Delayed, Reversible Cervical Paralysis After Scoliosis Corrective Surgery in a Child with Osteogenesis Imperfecta: A Case Report. ( 29538094 )
2018
11
Gamma Knife Radiosurgery for Trigeminal Neuralgia Associated with Osteogenesis Imperfecta. ( 29626679 )
2018
12
A novel variant of osteogenesis imperfecta type IV and low serum phosphorus level caused by a Val94Asp mutation in COL1A1. ( 29344653 )
2018
13
Sequential traumatic corneal open globe rupture in a patient with osteogenesis imperfecta type I. ( 30128364 )
2018
14
Implant therapy for a patient with osteogenesis imperfecta type I: review of literature with a case report. ( 30467787 )
2018
15
17q21.32-q22 Deletion in a girl with osteogenesis imperfecta, tricho-dento-osseous syndrome, and intellectual disability. ( 29896840 )
2018
16
Intraoperative bleeding in patients with osteogenesis imperfecta type III treated by Fassier-Duval femoral rodding: analysis of risk factors. ( 28723699 )
2018
17
Osteogenesis imperfecta type III/Ehlers-Danlos overlap syndrome in a Chinese man. ( 29552444 )
2018
18
Pregnancies complicated by maternal osteogenesis imperfecta type III: a case report and review of literature. ( 29988651 )
2018
19
Treatment of tibial deformities with the Fassier-Duval telescopic nail and minimally invasive percutaneous osteotomies in patients with osteogenesis imperfecta type III. ( 30212425 )
2018
20
Mitral Regurgitation and Heart Failure as the First Presentation in a Patient with Features of Two Connective Tissue Disorders: A Rare Combination of Mucopolysaccharidosis and Osteogenesis Imperfecta? ( 29225276 )
2018
21
Atypical femur fracture in a woman with osteogenesis imperfecta and multiple myeloma. ( 30179215 )
2018
22
Osteogenesis Imperfecta and Extra-/Intradural Hematomas: A Case Report and Review of the Literature. ( 30430037 )
2018
23
Basilar impression in osteogenesis imperfecta treated with staged halo traction and posterior decompression with short-segment fusion. ( 30443144 )
2018
24
Novel mutation G324C in WNT1 mapped in a large Pakistani family with severe recessively inherited Osteogenesis Imperfecta. ( 30447692 )
2018
25
Do femoral fractures in adult patients with osteogenesis imperfecta imitate atypical femoral fractures? A case series. ( 30448959 )
2018
26
Bone Marrow Transplantation for Treatment of the Col1a2+/G610C Osteogenesis Imperfecta Mouse Model. ( 30535573 )
2018
27
Fatigue and disturbances of sleep in patients with osteogenesis imperfecta - a cross-sectional questionnaire study. ( 29310646 )
2018
28
Bilateral giant retinal tears in Osteogenesis Imperfecta. ( 29329516 )
2018
29
Fracture Patterns Differ Between Osteogenesis Imperfecta and Routine Pediatric Fractures. ( 29356793 )
2018
30
FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta. ( 29358272 )
2018
31
Novel variant in Sp7/Osx associated with recessive osteogenesis imperfecta with bone fragility and hearing impairment. ( 29382611 )
2018
32
Genotype and malocclusion in patients with osteogenesis imperfecta. ( 29388328 )
2018
33
4-PBA ameliorates cellular homeostasis in fibroblasts from osteogenesis imperfecta patients by enhancing autophagy and stimulating protein secretion. ( 29432813 )
2018
34
Diagnosis, follow-up and management of sleep-disordered breathing in children with osteogenesis imperfecta. ( 29454826 )
2018
35
Effects of a telescopic intramedullary rod for treating patients with osteogenesis imperfecta of the femur. ( 29456761 )
2018
36
ZOLEDRONIC ACID VERSUS ALENDRONATE IN THE TREATMENT OF CHILDREN WITH OSTEOGENESIS IMPERFECTA: A 2-YEAR CLINICAL STUDY. ( 29466057 )
2018
37
Evaluation of high resolution thermal imaging to determine the effect of vertebral fractures on associated skin surface temperature in children with osteogenesis imperfecta. ( 29479660 )
2018
38
Diagnostic strategies and genotype-phenotype correlation in a large Indian cohort of osteogenesis imperfecta. ( 29499418 )
2018
39
Health-related quality of life of children and adolescents with osteogenesis imperfecta: a cross-sectional study using PedsQL™. ( 29499676 )
2018
40
Hypercalcemia and hypercalciuria during denosumab treatment in children with osteogenesis imperfecta type VI. ( 29504582 )
2018
41
Novel mutations of the SERPINF1 and FKBP10 genes in Chinese families with autosomal recessive osteogenesis imperfecta. ( 29512769 )
2018
42
Temporomandibular disorders and psychosocial status in osteogenesis imperfecta - a cross-sectional study. ( 29514671 )
2018
43
Novel compound heterozygous mutations in SERPINH1 cause rare autosomal recessive osteogenesis imperfecta type X. ( 29520608 )
2018
44
Elevated platelet counts in a cohort of children with moderate-severe osteogenesis imperfecta suggest that inflammation is present. ( 29535113 )
2018
45
Pulmonary and diaphragmatic pathology in collagen type I α1 mutant mice with osteogenesis imperfecta. ( 29538357 )
2018
46
Osteogenesis imperfecta and therapeutics. ( 29540309 )
2018
47
Mutations in the COL1A1 and COL1A2 genes associated with osteogenesis imperfecta (OI) types I or III. ( 29543922 )
2018
48
Low Dose of Bisphosphonate Enhances Sclerostin Antibody-Induced Trabecular Bone Mass Gains in Brtl/+ Osteogenesis Imperfecta Mouse Model. ( 29544018 )
2018
49
Complex heterozygous WNT1 mutation in severe recessive osteogenesis imperfecta of a Chinese patient. ( 29552441 )
2018
50
Successful anterior cruciate ligament reconstruction and meniscal repair in osteogenesis imperfecta. ( 29556892 )
2018
Sources

Variations for Brittle Bone Disorder

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ClinVar genetic disease variations for Brittle Bone Disorder:

6 (show top 50) (show all 267)
# Gene Variation Type Significance SNP ID Assembly Location
1 COL1A2 NC_000007.14: g.94418886_94423301del4416 deletion Pathogenic rs74315138 GRCh37 Chromosome 7, 94048198: 94052613
2 COL1A2 NC_000007.14: g.94418886_94423301del4416 deletion Pathogenic rs74315138 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 21)
# Super pathways Score Top Affiliating Genes
1
PI3K-Akt signaling pathway 37
Show member pathways
 12.83 COL1A1 COL1A2 COL2A1 FGFR3 IBSP
2
Focal Adhesion 1 37
Show member pathways
 12.73 COL1A1 COL1A2 COL2A1 COL3A1 IBSP
3
Collagen chain trimerization 66
Show member pathways
 12.67 COL1A1 COL1A2 COL2A1 COL3A1 CRTAP P3H1
4
Degradation of the extracellular matrix 66
Show member pathways
 12.02 COL1A1 COL1A2 COL2A1 COL3A1 CRTAP DCN
5
ECM-receptor interaction 37
Show member pathways
 12.01 CD36 COL1A1 COL1A2 COL2A1 IBSP
6
Platelet activation 37
11.85 COL1A1 COL1A2 COL3A1
7
Senescence and Autophagy in Cancer 1
11.78 COL1A1 COL3A1 SPARC
8
Binding and Uptake of Ligands by Scavenger Receptors 66
Show member pathways
 11.74 CD36 COL1A1 COL1A2 COL3A1 SPARC
9
AGE-RAGE signaling pathway in diabetic complications 37
11.73 COL1A1 COL1A2 COL3A1
10
Amoebiasis 37
11.71 COL1A1 COL1A2 COL3A1
11
Endochondral Ossification 1
11.51 COL2A1 FGFR3 PTH1R
12
ECM proteoglycans 66
11.51 DCN DSPP IBSP SPARC
13
Cell adhesion_ECM remodeling 22
11.44 COL1A1 COL1A2 COL2A1 COL3A1 SPARC
14
Platelet Aggregation Inhibitor Pathway, Pharmacodynamics 61
11.38 CD36 COL1A1 COL1A2 COL3A1
15
Transcription_Role of VDR in regulation of genes involved in osteoporosis 22
11.34 BGLAP COL1A1 PTH1R
16
Validated transcriptional targets of AP1 family members Fra1 and Fra2 1
11.2 BGLAP COL1A2 DCN
17
Inflammatory Response Pathway 1
11.17 COL1A1 COL1A2 COL3A1
18
VEGFR3 signaling in lymphatic endothelium 1
10.96 COL1A1 COL1A2
19
Development_Hedgehog and PTH signaling pathways in bone and cartilage development 22
10.94 BGLAP COL1A1 COL1A2 IBSP PTH1R
20
G-protein signaling_Rap2B regulation pathway 22
10.84 COL1A1 COL1A2 COL2A1 COL3A1 FGFR3
21
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 collagen trimer GO:0005581 9.67 COL1A1 COL1A2 COL2A1 COL3A1
2 collagen-containing extracellular matrix GO:0062023 9.63 COL1A1 COL1A2 COL2A1 COL3A1 DCN SPARC
3 extracellular matrix GO:0031012 9.56 COL1A1 COL1A2 COL2A1 COL3A1 DCN DSPP
4 platelet alpha granule membrane GO:0031092 9.46 CD36 SPARC
5 collagen type I trimer GO:0005584 9.4 COL1A1 COL1A2
6 endoplasmic reticulum lumen GO:0005788 9.28 BGLAP COL1A1 COL1A2 COL2A1 COL3A1 CRTAP
7 endoplasmic reticulum GO:0005783 10.03 COL1A1 COL1A2 CRTAP FGFR3 FKBP10 P3H1
8 extracellular space GO:0005615 10.02 BGLAP CD36 COL1A1 COL1A2 COL2A1 COL3A1
9 extracellular region GO:0005576 10 BGLAP COL1A1 COL1A2 COL2A1 COL3A1 DCN

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 platelet activation GO:0030168 9.79 COL1A1 COL1A2 COL3A1
3 osteoblast differentiation GO:0001649 9.78 BGLAP COL1A1 IBSP
4 response to mechanical stimulus GO:0009612 9.77 BGLAP COL1A1 COL3A1 DCN DSPP
5 cellular response to growth factor stimulus GO:0071363 9.74 BGLAP IBSP SPARC
6 wound healing GO:0042060 9.73 COL1A1 COL3A1 DCN SPARC
7 cellular response to amino acid stimulus GO:0071230 9.72 COL1A1 COL1A2 COL3A1
8 bone development GO:0060348 9.72 BGLAP COL2A1 P3H1 PPIB SPARC
9 blood vessel development GO:0001568 9.71 COL1A1 COL1A2 COL3A1
10 collagen fibril organization GO:0030199 9.71 COL1A1 COL1A2 COL2A1 COL3A1
11 chondrocyte differentiation GO:0002062 9.7 COL2A1 FGFR3 PTH1R
12 biomineral tissue development GO:0031214 9.69 BGLAP DSPP IBSP
13 chaperone-mediated protein folding GO:0061077 9.67 CRTAP P3H1 PPIB
14 bone mineralization GO:0030282 9.65 BGLAP FGFR3 IBSP IFITM5 PTH1R
15 endochondral ossification GO:0001958 9.63 COL1A1 COL2A1 FGFR3
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 9.6 COL1A1 COL1A2
20 response to gravity GO:0009629 9.59 BGLAP SPARC
21 skin morphogenesis GO:0043589 9.58 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 9.48 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 9.5 COL1A1 COL1A2 COL3A1
3 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.46 COL1A1 COL1A2 COL2A1 COL3A1
4 collagen binding GO:0005518 9.35 DCN DSPP P3H1 PPIB SPARC
5 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 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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