MCID: BRC047
MIFTS: 28

Bruck Syndrome 1

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

Aliases & Classifications for Bruck Syndrome 1

MalaCards integrated aliases for Bruck Syndrome 1:

Name: Bruck Syndrome 1 54 50 24 25 71 29 13 69
Kuskokwim Disease 50 25 71 69
Kuskokwim Syndrome 50 25 69
Arthrogryposis-Like Disorder 50 71
Arthrogryposis-Like Syndrome 50 25
Brks1 50 71
Osteogenesis Imperfecta with Congenital Joint Contractures 50
Arthrogryposis Like Disorder 50

Characteristics:

OMIM:

54
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 : 50 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 short stature, scoliosis and joint laxity. An important gene associated with Bruck Syndrome 1 is FKBP10 (FK506 Binding Protein 10). Affiliated tissues include bone.

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 : 54
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.

Related Diseases for Bruck Syndrome 1

Diseases in the Bruck Syndrome family:

Bruck Syndrome 2 Bruck Syndrome 1

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

id Related Disease Score Top Affiliating Genes
1 bruck syndrome 2 11.2
2 bruck syndrome 11.2
3 moved to 259450 10.9
4 congenital contractures 9.9

Symptoms & Phenotypes for Bruck Syndrome 1

Symptoms via clinical synopsis from OMIM:

54

Growth- Height:
short stature

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

Skeletal- Feet:
talipes equinovarus

Head And Neck- Teeth:
normal teeth

Head And Neck- Eyes:
normal sclerae

Skeletal- Spine:
scoliosis
kyphosis
flattened vertebral bodies
vertebral wedging

Chest- Ribs Sternum Clavicles And Scapulae:
pectus carinatum

Head And Neck- Ears:
normal hearing

Skeletal- Pelvis:
coxa vara
protrusio acetabuli

Skin Nails & Hair- Skin:
pterygia (knees and elbows)


Clinical features from OMIM:

259450

Human phenotypes related to Bruck Syndrome 1:

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

Drugs & Therapeutics for Bruck Syndrome 1

Interventional clinical trials:


id 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:

id Genetic test Affiliating Genes
1 Bruck Syndrome 1 29 24 FKBP10

Anatomical Context for Bruck Syndrome 1

MalaCards organs/tissues related to Bruck Syndrome 1:

39
Bone

Publications for Bruck Syndrome 1

Variations for Bruck Syndrome 1

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

71
id 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
id Gene Variation Type Significance SNP ID Assembly Location
1 FKBP10 FKBP10, 1-BP DUP, 831C duplication Pathogenic
2 FKBP10 FKBP10, 8-BP DUP, NT1016 duplication Pathogenic
3 FKBP10 FKBP10, 1-BP DUP, 1276G duplication Pathogenic
4 FKBP10 NM_021939.3(FKBP10): c.344G> A (p.Arg115Gln) single nucleotide variant Pathogenic rs387906960 GRCh37 Chromosome 17, 39973408: 39973408
5 FKBP10 FKBP10, 1-BP DUP, 743C duplication Pathogenic
6 FKBP10 NM_021939.3(FKBP10): c.1271_1272delCCinsA (p.Ala424Aspfs) indel Pathogenic rs397509383 GRCh37 Chromosome 17, 39977213: 39977214
7 FKBP10 NM_021939.3(FKBP10): c.337G> A (p.Glu113Lys) single nucleotide variant Pathogenic rs397514674 GRCh37 Chromosome 17, 39973401: 39973401
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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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