MCID: BRC047
MIFTS: 28

Bruck Syndrome 1

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

Aliases & Classifications for Bruck Syndrome 1

MalaCards integrated aliases for Bruck Syndrome 1:

Name: Bruck Syndrome 1 57 53 25 75 29 13 6 73
Kuskokwim Disease 57 76 53 25 59 75 73
Arthrogryposis-Like Disorder 57 53 75
Arthrogryposis-Like Syndrome 53 25 59
Kuskokwim Syndrome 53 25 73
Brks1 57 53 75
Arthrogryposis Like Disorder 76 53
Osteogenesis Imperfecta with Congenital Joint Contractures 53
Bruck Syndrome, Type 1 40

Characteristics:

Orphanet epidemiological data:

59
arthrogryposis-like syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset of fractures in infancy to early childhood


HPO:

32
bruck syndrome 1:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Bruck Syndrome 1

NIH Rare Diseases : 53 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 (FK506 Binding Protein 10). Affiliated tissues include bone, and related phenotypes are abnormality of the clavicle and melanocytic nevus

Genetics Home Reference : 25 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 : 57 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 : 75 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 : 76 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 congenital contractures 9.9

Symptoms & Phenotypes for Bruck Syndrome 1

Symptoms via clinical synopsis from OMIM:

57
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 Ribs Sternum 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:

59 32 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the clavicle 59 32 occasional (7.5%) Occasional (29-5%) HP:0000889
2 melanocytic nevus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000995
3 gait disturbance 59 32 hallmark (90%) Very frequent (99-80%) HP:0001288
4 reduced tendon reflexes 59 32 occasional (7.5%) Occasional (29-5%) HP:0001315
5 joint stiffness 59 32 hallmark (90%) Very frequent (99-80%) HP:0001387
6 talipes 59 32 frequent (33%) Frequent (79-30%) HP:0001883
7 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
8 abnormal form of the vertebral bodies 59 32 occasional (7.5%) Occasional (29-5%) HP:0003312
9 aplasia/hypoplasia of the patella 59 32 hallmark (90%) Very frequent (99-80%) HP:0006498
10 aplasia/hypoplasia of the radius 59 32 occasional (7.5%) Occasional (29-5%) HP:0006501
11 pectus carinatum 32 HP:0000768
12 platyspondyly 32 HP:0000926
13 osteoporosis 32 HP:0000939
14 pterygium 32 HP:0001059
15 joint laxity 32 HP:0001388
16 talipes equinovarus 32 HP:0001762
17 increased susceptibility to fractures 32 HP:0002659
18 kyphosis 32 HP:0002808
19 coxa vara 32 HP:0002812
20 elbow flexion contracture 32 HP:0002987
21 protrusio acetabuli 32 HP:0003179
22 hip contracture 32 HP:0003273
23 short stature 32 HP:0004322
24 knee flexion contracture 32 HP:0006380
25 ankle contracture 32 HP:0006466
26 vertebral wedging 32 HP:0008422

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 29 FKBP10

Anatomical Context for Bruck Syndrome 1

MalaCards organs/tissues related to Bruck Syndrome 1:

41
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:

75
# 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 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 FKBP10 FKBP10, 1-BP DUP, 831C duplication Pathogenic
2 FKBP10 FKBP10, 1-BP DUP, 743C duplication Pathogenic
3 FKBP10 FKBP10, 8-BP DUP, NT1016 duplication Pathogenic
4 FKBP10 FKBP10, 1-BP DUP, 1276G duplication Pathogenic
5 FKBP10 NM_021939.3(FKBP10): c.344G> A (p.Arg115Gln) single nucleotide variant Pathogenic rs387906960 GRCh37 Chromosome 17, 39973408: 39973408
6 FKBP10 NM_021939.3(FKBP10): c.344G> A (p.Arg115Gln) single nucleotide variant Pathogenic rs387906960 GRCh38 Chromosome 17, 41817156: 41817156
7 FKBP10 NM_021939.3(FKBP10): c.1271_1272delCCinsA (p.Ala424Aspfs) indel Pathogenic rs397509383 GRCh37 Chromosome 17, 39977213: 39977214
8 FKBP10 NM_021939.3(FKBP10): c.1271_1272delCCinsA (p.Ala424Aspfs) indel Pathogenic rs397509383 GRCh38 Chromosome 17, 41820961: 41820962
9 FKBP10 NM_021939.3(FKBP10): c.337G> A (p.Glu113Lys) single nucleotide variant Pathogenic rs397514674 GRCh37 Chromosome 17, 39973401: 39973401
10 FKBP10 NM_021939.3(FKBP10): c.337G> A (p.Glu113Lys) single nucleotide variant Pathogenic rs397514674 GRCh38 Chromosome 17, 41817149: 41817149
11 FKBP10 NM_021939.3(FKBP10): c.877_879delTAC (p.Tyr293del) deletion Pathogenic rs869320752 GRCh37 Chromosome 17, 39975611: 39975613
12 FKBP10 NM_021939.3(FKBP10): c.877_879delTAC (p.Tyr293del) deletion Pathogenic rs869320752 GRCh38 Chromosome 17, 41819359: 41819361

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 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
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