MCID: BRC048
MIFTS: 22

Bruck Syndrome 2

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

Aliases & Classifications for Bruck Syndrome 2

MalaCards integrated aliases for Bruck Syndrome 2:

Name: Bruck Syndrome 2 53 49 71 28 13 69
Brks2 53 49 71
Osteogenesis Imperfecta with Congenital Joint Contractures 53 71

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
bruck syndrome 2:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Bruck Syndrome 2

UniProtKB/Swiss-Prot : 71 Bruck syndrome 2: An autosomal recessive 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. It is distinguished from osteogenesis imperfecta by the absence of hearing loss and dentinogenesis imperfecta, and by the presence of clubfoot and congenital joint limitations.

MalaCards based summary : Bruck Syndrome 2, also known as brks2, is related to bruck syndrome and bruck syndrome 1, and has symptoms including osteopenia, inguinal hernia and pectus carinatum. An important gene associated with Bruck Syndrome 2 is PLOD2 (Procollagen-Lysine,2-Oxoglutarate 5-Dioxygenase 2). Affiliated tissues include bone.

Description from OMIM: 609220

Related Diseases for Bruck Syndrome 2

Diseases in the Bruck Syndrome family:

Bruck Syndrome 1 Bruck Syndrome 2

Diseases related to Bruck Syndrome 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 bruck syndrome 11.4
2 bruck syndrome 1 11.0

Symptoms & Phenotypes for Bruck Syndrome 2

Symptoms via clinical synopsis from OMIM:

53
Skeletal:
osteopenia
bone fragility
congenital joint contracture (elbow and knees)

Chest RibsSternum Clavicles And Scapulae:
pectus carinatum

Skeletal Skull:
wormian bones

Skeletal Feet:
clubfeet

Skin Nails Hair Skin:
pterygia

Genitourinary External Genitalia Male:
inguinal hernia

Growth Height:
short stature

Skeletal Limbs:
femoral bowing

Laboratory Abnormalities:
elevated urinary hydroxyproline

Skeletal Spine:
platyspondyly (thoracic vertebrae)


Clinical features from OMIM:

609220

Human phenotypes related to Bruck Syndrome 2:

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 osteopenia 31 HP:0000938
2 inguinal hernia 31 HP:0000023
3 pectus carinatum 31 HP:0000768
4 short stature 31 HP:0004322
5 flexion contracture 31 HP:0001371
6 platyspondyly 31 HP:0000926
7 wormian bones 31 HP:0002645
8 talipes equinovarus 31 HP:0001762
9 pterygium 31 HP:0001059
10 femoral bowing 31 HP:0002980
11 increased susceptibility to fractures 31 HP:0002659
12 knee flexion contracture 31 HP:0006380
13 elbow flexion contracture 31 HP:0002987
14 hydroxyprolinuria 31 HP:0003080

Drugs & Therapeutics for Bruck Syndrome 2

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 2

Genetic Tests for Bruck Syndrome 2

Genetic tests related to Bruck Syndrome 2:

# Genetic test Affiliating Genes
1 Bruck Syndrome 2 28 PLOD2

Anatomical Context for Bruck Syndrome 2

MalaCards organs/tissues related to Bruck Syndrome 2:

38
Bone

Publications for Bruck Syndrome 2

Variations for Bruck Syndrome 2

UniProtKB/Swiss-Prot genetic disease variations for Bruck Syndrome 2:

71
# Symbol AA change Variation ID SNP ID
1 PLOD2 p.Arg598His VAR_022164 rs121434461
2 PLOD2 p.Gly601Val VAR_022165 rs121434460
3 PLOD2 p.Thr608Ile VAR_022166 rs121434459

ClinVar genetic disease variations for Bruck Syndrome 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PLOD2 PLOD2, 1-BP DUP, 1559C duplication Pathogenic
2 PLOD2 NM_000935.2(PLOD2): c.1823C> T (p.Thr608Ile) single nucleotide variant Pathogenic rs121434459 GRCh37 Chromosome 3, 145789173: 145789173
3 PLOD2 NM_000935.2(PLOD2): c.1802G> T (p.Gly601Val) single nucleotide variant Pathogenic rs121434460 GRCh37 Chromosome 3, 145789194: 145789194
4 PLOD2 NM_000935.2(PLOD2): c.1793G> A (p.Arg598His) single nucleotide variant Pathogenic rs121434461 GRCh37 Chromosome 3, 145789203: 145789203

Expression for Bruck Syndrome 2

Search GEO for disease gene expression data for Bruck Syndrome 2.

Pathways for Bruck Syndrome 2

GO Terms for Bruck Syndrome 2

Sources for Bruck Syndrome 2

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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