BRKS1
MCID: BRC047
MIFTS: 30

Bruck Syndrome 1 (BRKS1)

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

Aliases & Classifications for Bruck Syndrome 1

MalaCards integrated aliases for Bruck Syndrome 1:

Name: Bruck Syndrome 1 58 54 26 76 30 13 6 74
Kuskokwim Disease 58 77 54 26 60 76 74
Kuskokwim Syndrome 54 26 60 74
Arthrogryposis-Like Disorder 58 54 76
Arthrogryposis-Like Syndrome 54 26 60
Brks1 58 54 76
Osteogenesis Imperfecta with Congenital Joint Contractures 54
Arthrogryposis Like Disorder 77
Bruck Syndrome, Type 1 41
Bruck Syndrome-1 54

Characteristics:

Orphanet epidemiological data:

60
kuskokwim syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset of fractures in infancy to early childhood


HPO:

33
bruck syndrome 1:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Bruck Syndrome 1

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2771Disease definitionBruck syndrome is characterised by the association of osteogenesis imperfecta and congenital joint contractures.EpidemiologyPrevalence is unknown but less than 40 cases have been reported in the literature so far.Clinical descriptionFeatures include osteoporosis and bone fragility, progressive joint contractures sometimes associated with pterygia, wormian bones, scoliosis due to vertebral deformities and short stature. Mental development is normal.EtiologyThe syndrome is genetically heterogeneous: the locus was mapped to chromosome 17p12 in one family (Bruck syndrome 1) but mutations in the PLOD2 gene (3q24) encoding telopeptide lysyl hydroxylase (Bruck syndrome 2) have been identified in other affected individuals.Genetic counselingTransmission is autosomal recessive.Visit the Orphanet disease page for more resources.

MalaCards based summary : Bruck Syndrome 1, also known as kuskokwim disease, is related to bruck syndrome 2 and bruck syndrome. An important gene associated with Bruck Syndrome 1 is FKBP10 (FKBP Prolyl Isomerase 10). Affiliated tissues include bone, and related phenotypes are gait disturbance and joint stiffness

Genetics Home Reference : 26 Kuskokwim syndrome is characterized by joint deformities called contractures that restrict the movement of affected joints. This condition has been found only in a population of native Alaskans known as Yup'ik Eskimos, who live in and around a region of southwest Alaska known as the Kuskokwim River Delta.

OMIM : 58 Bruck syndrome is characterized by congenital contractures with pterygia, onset of fractures in infancy or early childhood, postnatal short stature, severe limb deformity, and progressive scoliosis (McPherson and Clemens, 1997). (259450)

UniProtKB/Swiss-Prot : 76 Bruck syndrome 1: A disease characterized by generalized osteopenia, congenital joint contractures, fragile bones with onset of fractures in infancy or early childhood, short stature, severe limb deformity, progressive scoliosis, and pterygia.

Wikipedia : 77 Arthrogryposis multiplex congenita (AMC), or simply arthrogryposis, describes congenital joint... more...

Related Diseases for Bruck Syndrome 1

Diseases in the Bruck Syndrome family:

Bruck Syndrome 1 Bruck Syndrome 2

Diseases related to Bruck Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 bruck syndrome 2 12.0
2 bruck syndrome 11.9
3 brittle bone disorder 10.5
4 col1a1/2-related osteogenesis imperfecta 10.5
5 congenital contractures 10.1

Graphical network of the top 20 diseases related to Bruck Syndrome 1:



Diseases related to Bruck Syndrome 1

Symptoms & Phenotypes for Bruck Syndrome 1

Human phenotypes related to Bruck Syndrome 1:

60 33 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 gait disturbance 60 33 hallmark (90%) Very frequent (99-80%) HP:0001288
2 joint stiffness 60 33 hallmark (90%) Very frequent (99-80%) HP:0001387
3 aplasia/hypoplasia of the patella 60 33 hallmark (90%) Very frequent (99-80%) HP:0006498
4 talipes 60 33 frequent (33%) Frequent (79-30%) HP:0001883
5 scoliosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002650
6 abnormal form of the vertebral bodies 60 33 occasional (7.5%) Occasional (29-5%) HP:0003312
7 melanocytic nevus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000995
8 reduced tendon reflexes 60 33 occasional (7.5%) Occasional (29-5%) HP:0001315
9 abnormality of the clavicle 60 33 occasional (7.5%) Occasional (29-5%) HP:0000889
10 aplasia/hypoplasia of the radius 60 33 occasional (7.5%) Occasional (29-5%) HP:0006501
11 kyphosis 33 HP:0002808
12 pectus carinatum 33 HP:0000768
13 short stature 33 HP:0004322
14 osteoporosis 33 HP:0000939
15 platyspondyly 33 HP:0000926
16 elbow flexion contracture 33 HP:0002987
17 joint laxity 33 HP:0001388
18 talipes equinovarus 33 HP:0001762
19 protrusio acetabuli 33 HP:0003179
20 vertebral wedging 33 HP:0008422
21 coxa vara 33 HP:0002812
22 hip contracture 33 HP:0003273
23 pterygium 33 HP:0001059
24 ankle contracture 33 HP:0006466
25 knee flexion contracture 33 HP:0006380
26 increased susceptibility to fractures 33 HP:0002659

Symptoms via clinical synopsis from OMIM:

58
Skeletal Spine:
scoliosis
kyphosis
vertebral wedging
flattened vertebral bodies

Growth Height:
short stature

Skeletal Feet:
talipes equinovarus

Head And Neck Teeth:
normal teeth

Head And Neck Eyes:
normal sclerae

Chest Ribs Sternum Clavicles And Scapulae:
pectus carinatum

Skeletal:
osteoporosis
bone fragility
joint contractures, congenital (knee, ankle, hip, elbow)
joint laxity (fingers and wrist)

Skeletal Pelvis:
protrusio acetabuli
coxa vara

Head And Neck Ears:
normal hearing

Skin Nails Hair Skin:
pterygia (knees and elbows)

Clinical features from OMIM:

259450

Drugs & Therapeutics for Bruck Syndrome 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Conventional Versus RF Needle Transseptal Puncture for Cryoballoon Ablation Recruiting NCT03199703 Not Applicable

Search NIH Clinical Center for Bruck Syndrome 1

Genetic Tests for Bruck Syndrome 1

Genetic tests related to Bruck Syndrome 1:

# Genetic test Affiliating Genes
1 Bruck Syndrome 1 30 FKBP10

Anatomical Context for Bruck Syndrome 1

MalaCards organs/tissues related to Bruck Syndrome 1:

42
Bone

Publications for Bruck Syndrome 1

Articles related to Bruck Syndrome 1:

(show all 12)
# Title Authors Year
1
Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen. ( 22949511 )
2013
2
Kuskokwim syndrome, a recessive congenital contracture disorder, extends the phenotype of FKBP10 mutations. ( 23712425 )
2013
3
Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome--osteogenesis imperfecta phenotypic spectrum. ( 22689593 )
2012
4
Absence of FKBP10 in recessive type XI osteogenesis imperfecta leads to diminished collagen cross-linking and reduced collagen deposition in extracellular matrix. ( 22718341 )
2012
5
Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome. ( 20839288 )
2011
6
Mutations in FKBP10 cause both Bruck syndrome and isolated osteogenesis imperfecta in humans. ( 21567934 )
2011
7
FKBP10 and Bruck syndrome: phenotypic heterogeneity or call for reclassification? ( 20696291 )
2010
8
Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta. ( 20362275 )
2010
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. ( 9927692 )
1999
10
Bruck syndrome: a rare combination of bone fragility and multiple congenital joint contractures. ( 9481655 )
1998
11
Bruck syndrome (osteogenesis imperfecta with congenital joint contractures): review and report on the first North American case. ( 9129737 )
1997
12
Arthrogryposis syndrome (Kuskokwim disease) in the Eskimo. ( 4241085 )
1969

Variations for Bruck Syndrome 1

UniProtKB/Swiss-Prot genetic disease variations for Bruck Syndrome 1:

76
# Symbol AA change Variation ID SNP ID
1 FKBP10 p.Glu113Lys VAR_069902 rs397514674
2 FKBP10 p.Arg115Gln VAR_069903 rs387906960
3 FKBP10 p.Pro136Leu VAR_069904 rs782653042

ClinVar genetic disease variations for Bruck Syndrome 1:

6 (show all 17)
# Gene Variation Type Significance SNP ID Assembly Location
1 FKBP10 FKBP10, 8-BP DUP, NT1016 duplication Pathogenic
2 FKBP10 NM_021939.3(FKBP10): c.1276dup (p.Gln426Profs) duplication Pathogenic GRCh37 Chromosome 17, 39977218: 39977218
3 FKBP10 NM_021939.3(FKBP10): c.1276dup (p.Gln426Profs) duplication Pathogenic GRCh38 Chromosome 17, 41820966: 41820966
4 FKBP10 NM_021939.3(FKBP10): c.344G> A (p.Arg115Gln) single nucleotide variant Pathogenic rs387906960 GRCh37 Chromosome 17, 39973408: 39973408
5 FKBP10 NM_021939.3(FKBP10): c.344G> A (p.Arg115Gln) single nucleotide variant Pathogenic rs387906960 GRCh38 Chromosome 17, 41817156: 41817156
6 FKBP10 NM_021939.3(FKBP10): c.743dup (p.Gln249Thrfs) duplication Pathogenic GRCh38 Chromosome 17, 41819225: 41819225
7 FKBP10 NM_021939.3(FKBP10): c.743dup (p.Gln249Thrfs) duplication Pathogenic GRCh37 Chromosome 17, 39975477: 39975477
8 FKBP10 NM_021939.3(FKBP10): c.1271_1272delCCinsA (p.Ala424Aspfs) indel Pathogenic rs397509383 GRCh37 Chromosome 17, 39977213: 39977214
9 FKBP10 NM_021939.3(FKBP10): c.1271_1272delCCinsA (p.Ala424Aspfs) indel Pathogenic rs397509383 GRCh38 Chromosome 17, 41820961: 41820962
10 FKBP10 NM_021939.3(FKBP10): c.337G> A (p.Glu113Lys) single nucleotide variant Pathogenic rs397514674 GRCh37 Chromosome 17, 39973401: 39973401
11 FKBP10 NM_021939.3(FKBP10): c.337G> A (p.Glu113Lys) single nucleotide variant Pathogenic rs397514674 GRCh38 Chromosome 17, 41817149: 41817149
12 FKBP10 NM_021939.3(FKBP10): c.1667G> A (p.Arg556His) single nucleotide variant Uncertain significance rs138281924 GRCh37 Chromosome 17, 39978578: 39978578
13 FKBP10 NM_021939.3(FKBP10): c.1667G> A (p.Arg556His) single nucleotide variant Uncertain significance rs138281924 GRCh38 Chromosome 17, 41822326: 41822326
14 FKBP10 NM_021939.3(FKBP10): c.877_879delTAC (p.Tyr293del) deletion Pathogenic rs869320752 GRCh37 Chromosome 17, 39975611: 39975613
15 FKBP10 NM_021939.3(FKBP10): c.877_879delTAC (p.Tyr293del) deletion Pathogenic rs869320752 GRCh38 Chromosome 17, 41819359: 41819361
16 FKBP10 NM_021939.3(FKBP10): c.831dup (p.Gly278Argfs) duplication Pathogenic rs137853883 GRCh38 Chromosome 17, 41819313: 41819313
17 FKBP10 NM_021939.3(FKBP10): c.831dup (p.Gly278Argfs) duplication Pathogenic rs137853883 GRCh37 Chromosome 17, 39975565: 39975565

Expression for Bruck Syndrome 1

Search GEO for disease gene expression data for Bruck Syndrome 1.

Pathways for Bruck Syndrome 1

GO Terms for Bruck Syndrome 1

Sources for Bruck Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
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20 FMA
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63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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