MCID: BRC047
MIFTS: 28

Bruck Syndrome 1

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

Aliases & Classifications for Bruck Syndrome 1

MalaCards integrated aliases for Bruck Syndrome 1:

Name: Bruck Syndrome 1 53 49 24 71 28 13 69
Kuskokwim Disease 53 72 49 24 55 71 69
Arthrogryposis-Like Disorder 53 49 71
Arthrogryposis-Like Syndrome 49 24 55
Kuskokwim Syndrome 49 24 69
Brks1 53 49 71
Arthrogryposis Like Disorder 72 49
Osteogenesis Imperfecta with Congenital Joint Contractures 49

Characteristics:

Orphanet epidemiological data:

55
arthrogryposis-like syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Neonatal;

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
onset of fractures in infancy to early childhood


HPO:

31
bruck syndrome 1:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Bruck Syndrome 1

NIH Rare Diseases : 49 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. Last updated: 7/15/2008

MalaCards based summary : Bruck Syndrome 1, also known as kuskokwim disease, is related to bruck syndrome 2 and bruck syndrome, and has symptoms including joint stiffness, gait disturbance and scoliosis. An important gene associated with Bruck Syndrome 1 is FKBP10 (FK506 Binding Protein 10). Affiliated tissues include bone.

OMIM : 53 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 : 71 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.

Genetics Home Reference : 24 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.

Wikipedia : 72 Arthrogryposis multiplex congenital (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 11.5
2 bruck syndrome 11.0
3 arthrogryposis multiplex congenita, neurogenic, with myelin defect 9.9
4 congenital contractures 9.9

Symptoms & Phenotypes for Bruck Syndrome 1

Symptoms via clinical synopsis from OMIM:

53
Skeletal Spine:
scoliosis
kyphosis
vertebral wedging
flattened vertebral bodies

Growth Height:
short stature

Skeletal Pelvis:
protrusio acetabuli
coxa vara

Head And Neck Teeth:
normal teeth

Head And Neck Eyes:
normal sclerae

Chest RibsSternum Clavicles And Scapulae:
pectus carinatum

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

Skeletal Feet:
talipes equinovarus

Head And Neck Ears:
normal hearing

Skin Nails Hair Skin:
pterygia (knees and elbows)


Clinical features from OMIM:

259450

Human phenotypes related to Bruck Syndrome 1:

55 31 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint stiffness 55 31 hallmark (90%) Very frequent (99-80%) HP:0001387
2 gait disturbance 55 31 hallmark (90%) Very frequent (99-80%) HP:0001288
3 scoliosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002650
4 abnormal form of the vertebral bodies 55 31 occasional (7.5%) Occasional (29-5%) HP:0003312
5 melanocytic nevus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000995
6 reduced tendon reflexes 55 31 occasional (7.5%) Occasional (29-5%) HP:0001315
7 abnormality of the clavicle 55 31 occasional (7.5%) Occasional (29-5%) HP:0000889
8 talipes 55 31 frequent (33%) Frequent (79-30%) HP:0001883
9 aplasia/hypoplasia of the patella 55 31 hallmark (90%) Very frequent (99-80%) HP:0006498
10 aplasia/hypoplasia of the radius 55 31 occasional (7.5%) Occasional (29-5%) HP:0006501
11 joint laxity 31 HP:0001388
12 kyphosis 31 HP:0002808
13 pectus carinatum 31 HP:0000768
14 short stature 31 HP:0004322
15 osteoporosis 31 HP:0000939
16 platyspondyly 31 HP:0000926
17 protrusio acetabuli 31 HP:0003179
18 talipes equinovarus 31 HP:0001762
19 vertebral wedging 31 HP:0008422
20 coxa vara 31 HP:0002812
21 hip contracture 31 HP:0003273
22 pterygium 31 HP:0001059
23 increased susceptibility to fractures 31 HP:0002659
24 knee flexion contracture 31 HP:0006380
25 elbow flexion contracture 31 HP:0002987
26 ankle contracture 31 HP:0006466

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

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 28 FKBP10

Anatomical Context for Bruck Syndrome 1

MalaCards organs/tissues related to Bruck Syndrome 1:

38
Bone

Publications for Bruck Syndrome 1

Articles related to Bruck Syndrome 1:

# Title Authors Year
1
Arthrogryposis syndrome (Kuskokwim disease) in the Eskimo. ( 4241085 )
1969

Variations for Bruck Syndrome 1

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

71
# 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
# Gene Variation Type Significance SNP ID Assembly Location
1 FKBP10 FKBP10, 8-BP DUP, NT1016 duplication Pathogenic
2 FKBP10 FKBP10, 1-BP DUP, 1276G duplication Pathogenic
3 FKBP10 NM_021939.3(FKBP10): c.344G> A (p.Arg115Gln) single nucleotide variant Pathogenic rs387906960 GRCh37 Chromosome 17, 39973408: 39973408
4 FKBP10 FKBP10, 1-BP DUP, 743C duplication Pathogenic
5 FKBP10 NM_021939.3(FKBP10): c.1271_1272delCCinsA (p.Ala424Aspfs) indel Pathogenic rs397509383 GRCh37 Chromosome 17, 39977213: 39977214
6 FKBP10 NM_021939.3(FKBP10): c.337G> A (p.Glu113Lys) single nucleotide variant Pathogenic rs397514674 GRCh37 Chromosome 17, 39973401: 39973401
7 FKBP10 FKBP10, 1-BP DUP, 831C duplication Pathogenic
8 FKBP10 NM_021939.3(FKBP10): c.877_879delTAC (p.Tyr293del) deletion Pathogenic rs869320752 GRCh37 Chromosome 17, 39975611: 39975613

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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