MCID: BRC015
MIFTS: 48

Bruck Syndrome

Categories: Bone diseases, Fetal diseases, Genetic diseases, Oral diseases, Rare diseases

Aliases & Classifications for Bruck Syndrome

MalaCards integrated aliases for Bruck Syndrome:

Name: Bruck Syndrome 12 74 58 36 29 6 15 71
Osteogenesis Imperfecta-Congenital Joint Contractures Syndrome 58
Osteogenesis Imperfecta with Congenital Joint Contractures 12
Syndrome, Bruck 39

Characteristics:

Orphanet epidemiological data:

58
bruck syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis
Rare odontological diseases


External Ids:

Disease Ontology 12 DOID:0060231
KEGG 36 H00514
ICD10 32 M21.8
ICD10 via Orphanet 33 M21.8
UMLS via Orphanet 72 C0432253 C1836602 C1850168
Orphanet 58 ORPHA2771
UMLS 71 C0432253

Summaries for Bruck Syndrome

KEGG : 36 Bruck syndrome is a recessively-inherited form of osteogenesis imperfecta in combination with pterygium formation across large joints. In Bruck syndrome, joint mobility is significantly reduced, showing arthrogryposis multiplex congenita.

MalaCards based summary : Bruck Syndrome, also known as osteogenesis imperfecta-congenital joint contractures syndrome, is related to bruck syndrome 2 and col1a1/2 osteogenesis imperfecta. An important gene associated with Bruck Syndrome is PLOD2 (Procollagen-Lysine,2-Oxoglutarate 5-Dioxygenase 2), and among its related pathways/superpathways are Collagen chain trimerization and Degradation of the extracellular matrix. Affiliated tissues include bone and bone marrow, and related phenotypes are joint stiffness and short stature

Disease Ontology : 12 A syndrome characterized by a combination of multiple joint contractures and osteogenesis imperfecta.

Wikipedia : 74 Bruck syndrome is characterized as the combination of arthrogryposis multiplex congenita and... more...

Related Diseases for Bruck Syndrome

Diseases in the Bruck Syndrome family:

Bruck Syndrome 1 Bruck Syndrome 2

Diseases related to Bruck Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 72)
# Related Disease Score Top Affiliating Genes
1 bruck syndrome 2 32.9 PLOD2 FKBP10
2 col1a1/2 osteogenesis imperfecta 30.4 COL1A2 COL1A1
3 scoliosis 30.2 PLOD2 PLOD1 LOX FKBP10 COL1A2 COL1A1
4 osteogenesis imperfecta, type xii 30.1 SERPINF1 FKBP10
5 cleft soft palate 29.9 PLOD2 IFITM5
6 osteogenesis imperfecta, type iii 27.9 SERPINH1 SERPINF1 PPIB PLOD2 P3H1 FKBP10
7 dentinogenesis imperfecta 27.7 TMEM38B SERPINH1 SERPINF1 PPIB PLOD2 P3H1
8 brittle bone disorder 27.3 TMEM38B SERPINH1 SERPINF1 PPIB PLOD3 PLOD2
9 bruck syndrome 1 11.8
10 congenital amyoplasia 10.4
11 ehlers-danlos syndrome, kyphoscoliotic type, 1 10.3 PLOD2 PLOD1
12 ehlers-danlos/osteogenesis imperfecta syndrome 10.3 COL1A2 COL1A1
13 larsen-like syndrome 10.3 COL1A2 COL1A1
14 arthrochalasia ehlers-danlos syndrome 10.3 COL1A2 COL1A1
15 ehlers-danlos syndrome, arthrochalasia type, 2 10.3 COL1A2 COL1A1
16 congenital contractures 10.3
17 cervical incompetence 10.2 PLOD1 P3H1
18 syndromic x-linked intellectual disability cabezas type 10.2 COL1A2 COL1A1
19 diffuse scleroderma 10.2 COL1A2 COL1A1
20 osteogenesis imperfecta, type viii 10.2 P3H1 CRTAP
21 ehlers-danlos syndrome, cardiac valvular type 10.2 COL1A2 COL1A1
22 distal arthrogryposis 10.2
23 keloid disorder 10.2 SERPINH1 CD36
24 collagen disease 10.2 PLOD1 COL1A2 COL1A1
25 hypermobile ehlers-danlos syndrome 10.2 PLOD1 COL1A1
26 scleroderma, familial progressive 10.2 COL1A2 COL1A1 CD36
27 fibromatosis, gingival, 1 10.2 SERPINH1 CD36
28 caffey disease 10.2 COL1A2 COL1A1 CD36
29 osteoporosis, juvenile 10.2 COL1A2 COL1A1 CD36
30 clubfoot 10.2
31 endosteal hyperostosis, autosomal dominant 10.1 CRTAP COL1A2 COL1A1
32 classic ehlers-danlos syndrome 10.1 COL1A2 COL1A1
33 boomerang dysplasia 10.1 P3H1 CRTAP
34 osteogenesis imperfecta, type ix 10.1 PPIB COL1A2 COL1A1
35 stickler syndrome 10.1 PLOD3 COL1A2 COL1A1
36 ocular cicatricial pemphigoid 10.1 SERPINH1 CD36
37 osteogenesis imperfecta, type xi 10.1
38 autosomal recessive disease 10.1
39 osteogenesis imperfecta, type i 10.1 CRTAP COL1A2 COL1A1 CD36
40 x-linked alport syndrome 10.1 COL1A2 COL1A1
41 myositis ossificans 10.0 COL1A1 BMP1
42 oral submucous fibrosis 10.0 LOX COL1A2 COL1A1
43 fibrogenesis imperfecta ossium 10.0 P3H1 CRTAP COL1A2 COL1A1
44 aneurysm 10.0 PLOD1 LOX COL1A1
45 high bone mass osteogenesis imperfecta 10.0 COL1A2 COL1A1 BMP1
46 osteogenesis imperfecta, type vi 10.0 SERPINF1 IFITM5 COL1A1
47 osteogenesis imperfecta, type v 10.0 IFITM5 COL1A2 COL1A1 CD36
48 inguinal hernia 10.0 LOX COL1A1 CD36
49 hyperostosis 10.0 COL1A2 COL1A1 BMP1
50 otosclerosis 9.9 SERPINF1 COL1A2 COL1A1 CD36

Graphical network of the top 20 diseases related to Bruck Syndrome:



Diseases related to Bruck Syndrome

Symptoms & Phenotypes for Bruck Syndrome

Human phenotypes related to Bruck Syndrome:

58 31 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint stiffness 58 31 hallmark (90%) Very frequent (99-80%) HP:0001387
2 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
3 osteoporosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000939
4 recurrent fractures 58 31 hallmark (90%) Very frequent (99-80%) HP:0002757
5 wormian bones 58 31 hallmark (90%) Very frequent (99-80%) HP:0002645
6 arthrogryposis multiplex congenita 58 31 hallmark (90%) Very frequent (99-80%) HP:0002804
7 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
8 kyphosis 58 31 frequent (33%) Frequent (79-30%) HP:0002808
9 respiratory insufficiency 58 31 frequent (33%) Frequent (79-30%) HP:0002093
10 talipes equinovarus 58 31 frequent (33%) Frequent (79-30%) HP:0001762
11 triangular face 58 31 frequent (33%) Frequent (79-30%) HP:0000325
12 pterygium 58 31 frequent (33%) Frequent (79-30%) HP:0001059
13 bowing of the long bones 58 31 occasional (7.5%) Occasional (29-5%) HP:0006487
14 platyspondyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000926

MGI Mouse Phenotypes related to Bruck Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.25 BMP1 CD36 COL1A1 COL1A2 FKBP10 LOX
2 growth/size/body region MP:0005378 10.21 BMP1 CD36 COL1A1 COL1A2 CRTAP FKBP10
3 craniofacial MP:0005382 10.01 BMP1 COL1A1 FKBP10 IFITM5 LOX PLOD3
4 mortality/aging MP:0010768 10 BMP1 CD36 COL1A1 COL1A2 FKBP10 IFITM5
5 integument MP:0010771 9.92 COL1A1 COL1A2 LOX P3H1 PLOD1 PLOD2
6 limbs/digits/tail MP:0005371 9.91 BMP1 COL1A1 COL1A2 FKBP10 IFITM5 LOX
7 muscle MP:0005369 9.61 BMP1 CD36 COL1A1 COL1A2 LOX P3H1
8 skeleton MP:0005390 9.47 BMP1 CD36 COL1A1 COL1A2 CRTAP FKBP10

Drugs & Therapeutics for Bruck Syndrome

Search Clinical Trials , NIH Clinical Center for Bruck Syndrome

Genetic Tests for Bruck Syndrome

Genetic tests related to Bruck Syndrome:

# Genetic test Affiliating Genes
1 Bruck Syndrome 29

Anatomical Context for Bruck Syndrome

MalaCards organs/tissues related to Bruck Syndrome:

40
Bone, Bone Marrow

Publications for Bruck Syndrome

Articles related to Bruck Syndrome:

(show all 50)
# Title Authors PMID Year
1
Kuskokwim syndrome, a recessive congenital contracture disorder, extends the phenotype of FKBP10 mutations. 6 61
23712425 2013
2
Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen. 6 61
22949511 2013
3
Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome--osteogenesis imperfecta phenotypic spectrum. 6 61
22689593 2012
4
Mutations in FKBP10 cause both Bruck syndrome and isolated osteogenesis imperfecta in humans. 6 61
21567934 2011
5
Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome. 61 6
20839288 2011
6
FKBP10 and Bruck syndrome: phenotypic heterogeneity or call for reclassification? 6 61
20696291 2010
7
Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2. 6 61
15523624 2004
8
Identification of PLOD2 as telopeptide lysyl hydroxylase, an important enzyme in fibrosis. 6 61
12881513 2003
9
Defective collagen crosslinking in bone, but not in ligament or cartilage, in Bruck syndrome: indications for a bone-specific telopeptide lysyl hydroxylase on chromosome 17. 61 6
9927692 1999
10
Bruck syndrome: a rare combination of bone fragility and multiple congenital joint contractures. 6 61
9481655 1998
11
Bruck syndrome (osteogenesis imperfecta with congenital joint contractures): review and report on the first North American case. 61 6
9129737 1997
12
Absence of FKBP10 in recessive type XI osteogenesis imperfecta leads to diminished collagen cross-linking and reduced collagen deposition in extracellular matrix. 6
22718341 2012
13
Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta. 6
20362275 2010
14
New insights on the clinical variability of FKBP10 mutations. 61
32531462 2020
15
A Rare Case of Bruck Syndrome Type 2 in Siblings With Broad Phenotypic Variability. 61
32612477 2020
16
Bruck syndrome 2 variant lacking congenital contractures and involving a novel compound heterozygous PLOD2 mutation. 61
31472299 2020
17
SiMPLOD, a Structure-Integrated Database of Collagen Lysyl Hydroxylase (LH/PLOD) Enzyme Variants. 61
30721533 2019
18
Orthopedic Manifestations of Bruck Syndrome: A Case Series with Intermediate to Long-term Follow-Up. 61
31001443 2019
19
Phenotypic Consequences of PLOD2 Mutations in Bruck Syndrome Inform a Collagen Lysyl Hydroxylase Crystal Structure. 61
29878519 2018
20
Novel mutations of the SERPINF1 and FKBP10 genes in Chinese families with autosomal recessive osteogenesis imperfecta. 61
29512769 2018
21
Diagnostic strategies and genotype-phenotype correlation in a large Indian cohort of osteogenesis imperfecta. 61
29499418 2018
22
Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in PLOD2. 61
29178448 2018
23
Novel Mutations in PLOD2 Cause Rare Bruck Syndrome. 61
29177700 2018
24
Fkbp10 Deletion in Osteoblasts Leads to Qualitative Defects in Bone. 61
28206698 2017
25
FKBP65-dependent peptidyl-prolyl isomerase activity potentiates the lysyl hydroxylase 2-driven collagen cross-link switch. 61
28378777 2017
26
Loss of Type I Collagen Telopeptide Lysyl Hydroxylation Causes Musculoskeletal Abnormalities in a Zebrafish Model of Bruck Syndrome. 61
27541483 2016
27
Disentangling mechanisms involved in collagen pyridinoline cross-linking: The immunophilin FKBP65 is critical for dimerization of lysyl hydroxylase 2. 61
27298363 2016
28
Osteoblastic differentiation of bone marrow mesenchymal stromal cells in Bruck Syndrome. 61
27146342 2016
29
Zoledronic acid in children with osteogenesis imperfecta and Bruck syndrome: a 2-year prospective observational study. 61
26138583 2016
30
Bruck syndrome - a rare syndrome of bone fragility and joint contracture and novel homozygous FKBP10 mutation. 61
25931047 2015
31
Connective tissue alterations in Fkbp10-/- mice. 61
24777781 2014
32
COL1A1 and miR-29b show lower expression levels during osteoblast differentiation of bone marrow stromal cells from Osteogenesis Imperfecta patients. 61
24767406 2014
33
Novel mutations in FKBP10 and PLOD2 cause rare Bruck syndrome in Chinese patients. 61
25238597 2014
34
The first case of Bruck syndrome associated with gastroschisis. 61
24577988 2013
35
Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype-phenotype correlations. 61
23613367 2013
36
A novel homozygous 5 bp deletion in FKBP10 causes clinically Bruck syndrome in an Indonesian patient. 61
22085994 2012
37
Mutations in FKBP10 can cause a severe form of isolated Osteogenesis imperfecta. 61
22107750 2011
38
Missense mutations that cause Bruck syndrome affect enzymatic activity, folding, and oligomerization of lysyl hydroxylase 2. 61
19762917 2009
39
Bruck syndrome: osteogenesis imperfecta and arthrogryposis multiplex congenita. 61
19460271 2009
40
Cyclic pamidronate treatment in Bruck syndrome: proposal of a new modality of treatment. 61
19067906 2008
41
[Bruck syndrome: osteogenesis imperfecta with congenital joint contractures]. 61
18620684 2008
42
Bruck syndrome: second antenatal diagnosis. 61
17003551 2007
43
Bruck syndrome: congenital joint contractures with bone fragility. 61
16307191 2005
44
Prenatal diagnosis of Bruck syndrome. 61
16034828 2005
45
Bruck syndrome. 61
15973030 2005
46
Bruck syndrome: neonatal presentation and natural course in three patients. 61
9799301 1998
47
Osteogenesis imperfecta with joint contractures: bruck syndrome. 61
9472060 1998
48
Osteogenesis imperfecta with arthrogryposis multiplex congenita (Bruck syndrome)--evidence for possible autosomal recessive inheritance. 61
9354841 1997
49
Defective collagen fibril formation and mineralization in osteogenesis imperfecta with congenital joint contractures (Bruck syndrome). 61
8335019 1993
50
Osteogenesis imperfecta with congenital joint contractures (Bruck syndrome). 61
2766569 1989

Variations for Bruck Syndrome

ClinVar genetic disease variations for Bruck Syndrome:

6 (show top 50) (show all 92)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PLOD2 NM_182943.3(PLOD2):c.1886C>T (p.Thr629Ile) SNV Pathogenic 7641 rs121434459 3:145789173-145789173 3:146071386-146071386
2 PLOD2 NM_182943.3(PLOD2):c.1865G>T (p.Gly622Val) SNV Pathogenic 7642 rs121434460 3:145789194-145789194 3:146071407-146071407
3 PLOD2 NM_182943.3(PLOD2):c.1856G>A (p.Arg619His) SNV Pathogenic 7643 rs121434461 3:145789203-145789203 3:146071416-146071416
4 FKBP10 FKBP10, 8-BP DUP, NT1016 Duplication Pathogenic 30631
5 FKBP10 NM_021939.3(FKBP10):c.1276dup (p.Gln426fs) Duplication Pathogenic 30633 rs1567856056 17:39977212-39977213 17:41820960-41820961
6 FKBP10 NM_021939.3(FKBP10):c.344G>A (p.Arg115Gln) SNV Pathogenic 30634 rs387906960 17:39973408-39973408 17:41817156-41817156
7 FKBP10 NM_021939.3(FKBP10):c.743dup (p.Gln249fs) Duplication Pathogenic 30635 rs1555616552 17:39975471-39975472 17:41819219-41819220
8 PLOD2 NM_182943.3(PLOD2):c.1559dup (p.Val523fs) Duplication Pathogenic 41424 rs749709000 3:145795652-145795653 3:146077865-146077866
9 FKBP10 NM_021939.3(FKBP10):c.1271_1272delinsA (p.Ala424fs) Indel Pathogenic 41425 rs397509383 17:39977213-39977214 17:41820961-41820962
10 FKBP10 NM_021939.3(FKBP10):c.831dup (p.Gly278fs) Duplication Pathogenic 438659 rs137853883 17:39975558-39975559 17:41819306-41819307
11 FKBP10 NM_021939.3(FKBP10):c.337G>A (p.Glu113Lys) SNV Pathogenic 41473 rs397514674 17:39973401-39973401 17:41817149-41817149
12 FKBP10 NM_021939.3(FKBP10):c.877_879del (p.Tyr293del) Deletion Pathogenic 208427 rs869320752 17:39975609-39975611 17:41819357-41819359
13 FKBP10 NM_021939.4(FKBP10):c.391+1G>A SNV Pathogenic 870118 rs141847881 17:39973456-39973456 17:41817204-41817204
14 PLOD2 NM_182943.3(PLOD2):c.351dup (p.Phe118fs) Duplication Likely pathogenic 930725 3:145828222-145828223 3:146110435-146110436
15 PLOD2 NM_182943.3(PLOD2):c.1280A>G (p.Asn427Ser) SNV Likely pathogenic 807467 rs893004444 3:145799603-145799603 3:146081816-146081816
16 FKBP10 NM_021939.3(FKBP10):c.890_897dup (p.Gly300Ter) Duplication Likely pathogenic 631496 rs1567855132 17:39975623-39975624 17:41819371-41819372
17 PLOD2 NM_182943.3(PLOD2):c.2110G>A (p.Glu704Lys) SNV Uncertain significance 900155 3:145788840-145788840 3:146071053-146071053
18 PLOD2 NM_182943.3(PLOD2):c.2103C>T (p.Asn701=) SNV Uncertain significance 900156 3:145788847-145788847 3:146071060-146071060
19 PLOD2 NM_182943.3(PLOD2):c.1995G>A (p.Lys665=) SNV Uncertain significance 900157 3:145789064-145789064 3:146071277-146071277
20 PLOD2 NM_182943.3(PLOD2):c.1942C>T (p.Arg648Trp) SNV Uncertain significance 900158 3:145789117-145789117 3:146071330-146071330
21 PLOD2 NM_182943.3(PLOD2):c.1744-11A>G SNV Uncertain significance 900159 3:145790463-145790463 3:146072676-146072676
22 PLOD2 NM_182943.3(PLOD2):c.103C>T (p.Pro35Ser) SNV Uncertain significance 900221 3:145878674-145878674 3:146160887-146160887
23 PLOD2 NM_182943.3(PLOD2):c.382A>G (p.Lys128Glu) SNV Uncertain significance 343651 rs200569129 3:145828192-145828192 3:146110405-146110405
24 PLOD2 NM_182943.3(PLOD2):c.-73C>T SNV Uncertain significance 343653 rs148948195 3:145878849-145878849 3:146161062-146161062
25 PLOD2 NM_182943.3(PLOD2):c.1658A>G (p.Gln553Arg) SNV Uncertain significance 343646 rs148051196 3:145794588-145794588 3:146076801-146076801
26 PLOD2 NM_182943.3(PLOD2):c.801C>A (p.Asn267Lys) SNV Uncertain significance 545697 rs771710305 3:145809665-145809665 3:146091878-146091878
27 FKBP10 NM_021939.3(FKBP10):c.1667G>A (p.Arg556His) SNV Uncertain significance 193735 rs138281924 17:39978578-39978578 17:41822326-41822326
28 PLOD2 NM_182943.3(PLOD2):c.1417C>T (p.Arg473Ter) SNV Uncertain significance 632404 rs750664256 3:145796986-145796986 3:146079199-146079199
29 PLOD2 NM_182943.3(PLOD2):c.1626C>T (p.Tyr542=) SNV Uncertain significance 901321 3:145794620-145794620 3:146076833-146076833
30 PLOD2 NM_182943.3(PLOD2):c.1565G>C (p.Gly522Ala) SNV Uncertain significance 901322 3:145794681-145794681 3:146076894-146076894
31 PLOD2 NM_182943.3(PLOD2):c.1451G>A (p.Arg484His) SNV Uncertain significance 753441 rs142909885 3:145796952-145796952 3:146079165-146079165
32 PLOD2 NM_000935.2(PLOD2):c.-286G>T SNV Uncertain significance 901376 3:145879062-145879062 3:146161275-146161275
33 PLOD2 NM_000935.2(PLOD2):c.-417A>G SNV Uncertain significance 901377 3:145879193-145879193 3:146161406-146161406
34 PLOD2 NM_182943.3(PLOD2):c.*759T>C SNV Uncertain significance 901797 3:145787745-145787745 3:146069958-146069958
35 PLOD2 NM_182943.3(PLOD2):c.*742A>G SNV Uncertain significance 901798 3:145787762-145787762 3:146069975-146069975
36 PLOD2 NM_182943.3(PLOD2):c.*673A>T SNV Uncertain significance 901799 3:145787831-145787831 3:146070044-146070044
37 PLOD2 NM_182943.3(PLOD2):c.*501C>T SNV Uncertain significance 901800 3:145788003-145788003 3:146070216-146070216
38 PLOD2 NM_182943.3(PLOD2):c.*418A>T SNV Uncertain significance 901801 3:145788086-145788086 3:146070299-146070299
39 PLOD2 NM_182943.3(PLOD2):c.1244C>T (p.Ala415Val) SNV Uncertain significance 901868 3:145799639-145799639 3:146081852-146081852
40 PLOD2 NM_182943.3(PLOD2):c.-188C>G SNV Uncertain significance 900223 3:145878964-145878964 3:146161177-146161177
41 PLOD2 NM_182943.3(PLOD2):c.*1169T>C SNV Uncertain significance 901258 3:145787335-145787335 3:146069548-146069548
42 PLOD2 NM_182943.3(PLOD2):c.*1049G>T SNV Uncertain significance 901259 3:145787455-145787455 3:146069668-146069668
43 PLOD2 NM_182943.3(PLOD2):c.*1034A>C SNV Uncertain significance 901260 3:145787470-145787470 3:146069683-146069683
44 PLOD2 NM_182943.3(PLOD2):c.*930A>C SNV Uncertain significance 901261 3:145787574-145787574 3:146069787-146069787
45 PLOD2 NM_182943.3(PLOD2):c.836G>A (p.Cys279Tyr) SNV Uncertain significance 901869 3:145809630-145809630 3:146091843-146091843
46 PLOD2 NM_182943.3(PLOD2):c.587C>T (p.Thr196Ile) SNV Uncertain significance 493376 rs148118826 3:145824347-145824347 3:146106560-146106560
47 PLOD2 NM_182943.3(PLOD2):c.*63T>G SNV Uncertain significance 902704 3:145788441-145788441 3:146070654-146070654
48 PLOD2 NM_182943.3(PLOD2):c.*683C>T SNV Uncertain significance 343638 rs566705549 3:145787821-145787821 3:146070034-146070034
49 PLOD2 NM_182943.3(PLOD2):c.-170C>G SNV Uncertain significance 343656 rs527384365 3:145878946-145878946 3:146161159-146161159
50 PLOD2 NM_182943.3(PLOD2):c.-81C>T SNV Uncertain significance 343654 rs886058065 3:145878857-145878857 3:146161070-146161070

Expression for Bruck Syndrome

Search GEO for disease gene expression data for Bruck Syndrome.

Pathways for Bruck Syndrome

GO Terms for Bruck Syndrome

Cellular components related to Bruck Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 10.03 SERPINF1 PLOD3 P3H1 LOX CRTAP COL1A2
2 extracellular space GO:0005615 10.02 SERPINH1 SERPINF1 PLOD3 LOX CRTAP COL1A2
3 collagen-containing extracellular matrix GO:0062023 9.73 SERPINH1 SERPINF1 PLOD3 P3H1 COL1A2 COL1A1
4 endoplasmic reticulum GO:0005783 9.7 TMEM38B SERPINH1 PPIB PLOD3 PLOD2 PLOD1
5 collagen trimer GO:0005581 9.55 SERPINH1 LOX COL1A2 COL1A1 CD36
6 rough endoplasmic reticulum membrane GO:0030867 9.4 PLOD2 PLOD1
7 collagen type I trimer GO:0005584 9.32 COL1A2 COL1A1
8 endoplasmic reticulum lumen GO:0005788 9.23 SERPINH1 PPIB PLOD3 P3H1 FKBP10 CRTAP

Biological processes related to Bruck Syndrome according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.97 PLOD3 PLOD2 PLOD1 P3H1 LOX
2 protein phosphopantetheinylation GO:0018215 9.86 PLOD3 PLOD2 PLOD1 LOX
3 skeletal system development GO:0001501 9.75 COL1A2 COL1A1 BMP1
4 ossification GO:0001503 9.72 TMEM38B COL1A1 BMP1
5 wound healing GO:0042060 9.71 LOX FKBP10 COL1A1
6 bone development GO:0060348 9.65 TMEM38B PPIB P3H1
7 blood vessel development GO:0001568 9.63 LOX COL1A2 COL1A1
8 protein O-linked glycosylation GO:0006493 9.61 PLOD3 PLOD2 PLOD1
9 chaperone-mediated protein folding GO:0061077 9.58 PPIB P3H1 CRTAP
10 extracellular matrix assembly GO:0085029 9.52 FKBP10 COL1A2
11 skin morphogenesis GO:0043589 9.51 COL1A2 COL1A1
12 collagen biosynthetic process GO:0032964 9.49 SERPINH1 COL1A1
13 bone mineralization GO:0030282 9.46 TMEM38B LOX IFITM5 COL1A2
14 collagen metabolic process GO:0032963 9.43 PLOD3 P3H1 COL1A2
15 negative regulation of post-translational protein modification GO:1901874 9.37 P3H1 CRTAP
16 hydroxylysine biosynthetic process GO:0046947 9.32 PLOD3 PLOD2
17 peptidyl-lysine hydroxylation GO:0017185 9.26 PLOD3 PLOD2 PLOD1 FKBP10
18 collagen fibril organization GO:0030199 9.17 SERPINH1 PLOD3 LOX FKBP10 CRTAP COL1A2

Molecular functions related to Bruck Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 10.18 ZSWIM6 PLOD3 PLOD2 PLOD1 P3H1 LOX
2 oxidoreductase activity GO:0016491 9.85 PLOD3 PLOD2 PLOD1 P3H1 LOX
3 iron ion binding GO:0005506 9.71 PLOD3 PLOD2 PLOD1 P3H1
4 dioxygenase activity GO:0051213 9.67 PLOD3 PLOD2 PLOD1 P3H1
5 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016705 9.62 PLOD3 PLOD2 PLOD1 P3H1
6 L-ascorbic acid binding GO:0031418 9.56 PLOD3 PLOD2 PLOD1 P3H1
7 platelet-derived growth factor binding GO:0048407 9.43 COL1A2 COL1A1
8 procollagen glucosyltransferase activity GO:0033823 9.33 PLOD3 PLOD2 PLOD1
9 procollagen-lysine 5-dioxygenase activity GO:0008475 9.13 PLOD3 PLOD2 PLOD1
10 collagen binding GO:0005518 9.02 SERPINH1 PPIB P3H1 LOX CRTAP

Sources for Bruck Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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