MCID: BRC048
MIFTS: 22

Bruck Syndrome 2

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

Aliases & Classifications for Bruck Syndrome 2

MalaCards integrated aliases for Bruck Syndrome 2:

Name: Bruck Syndrome 2 57 53 75 29 13 6 73
Brks2 57 53 75
Osteogenesis Imperfecta with Congenital Joint Contractures 57 75
Bruck Syndrome, Type 2 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
bruck syndrome 2:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Bruck Syndrome 2

UniProtKB/Swiss-Prot : 75 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 1. An important gene associated with Bruck Syndrome 2 is PLOD2 (Procollagen-Lysine,2-Oxoglutarate 5-Dioxygenase 2). Affiliated tissues include bone, and related phenotypes are inguinal hernia and pectus carinatum

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 1 11.0

Symptoms & Phenotypes for Bruck Syndrome 2

Symptoms via clinical synopsis from OMIM:

57
Skeletal:
osteopenia
bone fragility
congenital joint contracture (elbow and knees)

Chest Ribs Sternum 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:

32 (show all 14)
# Description HPO Frequency HPO Source Accession
1 inguinal hernia 32 HP:0000023
2 pectus carinatum 32 HP:0000768
3 platyspondyly 32 HP:0000926
4 osteopenia 32 HP:0000938
5 pterygium 32 HP:0001059
6 flexion contracture 32 HP:0001371
7 talipes equinovarus 32 HP:0001762
8 wormian bones 32 HP:0002645
9 increased susceptibility to fractures 32 HP:0002659
10 femoral bowing 32 HP:0002980
11 elbow flexion contracture 32 HP:0002987
12 hydroxyprolinuria 32 HP:0003080
13 short stature 32 HP:0004322
14 knee flexion contracture 32 HP:0006380

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 Not Applicable

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 29 PLOD2

Anatomical Context for Bruck Syndrome 2

MalaCards organs/tissues related to Bruck Syndrome 2:

41
Bone

Publications for Bruck Syndrome 2

Variations for Bruck Syndrome 2

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

75
# 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
(show all 11)
# Gene Variation Type Significance SNP ID Assembly Location
1 PLOD2 NM_000935.2(PLOD2): c.1823C> T (p.Thr608Ile) single nucleotide variant Pathogenic rs121434459 GRCh37 Chromosome 3, 145789173: 145789173
2 PLOD2 NM_000935.2(PLOD2): c.1823C> T (p.Thr608Ile) single nucleotide variant Pathogenic rs121434459 GRCh38 Chromosome 3, 146071386: 146071386
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.1802G> T (p.Gly601Val) single nucleotide variant Pathogenic rs121434460 GRCh38 Chromosome 3, 146071407: 146071407
5 PLOD2 NM_000935.2(PLOD2): c.1793G> A (p.Arg598His) single nucleotide variant Pathogenic rs121434461 GRCh37 Chromosome 3, 145789203: 145789203
6 PLOD2 NM_000935.2(PLOD2): c.1793G> A (p.Arg598His) single nucleotide variant Pathogenic rs121434461 GRCh38 Chromosome 3, 146071416: 146071416
7 PLOD2 PLOD2, 1-BP DUP, 1559C duplication Pathogenic
8 PLOD2 NM_182943.2(PLOD2): c.1500+12A> G single nucleotide variant Benign rs73010484 GRCh37 Chromosome 3, 145796891: 145796891
9 PLOD2 NM_182943.2(PLOD2): c.1500+12A> G single nucleotide variant Benign rs73010484 GRCh38 Chromosome 3, 146079104: 146079104
10 PLOD2 NM_182943.2(PLOD2): c.338+4G> A single nucleotide variant Benign rs4681297 GRCh37 Chromosome 3, 145838895: 145838895
11 PLOD2 NM_182943.2(PLOD2): c.338+4G> A single nucleotide variant Benign rs4681297 GRCh38 Chromosome 3, 146121108: 146121108

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
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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