Bruck Syndrome 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Bruck Syndrome 2

MalaCards integrated aliases for Bruck Syndrome 2:

Name: Bruck Syndrome 2 ⁵⁸ ⁵⁴ ⁷⁶ ³⁰ ¹³ ⁶ ⁷⁴

Brks2 ⁵⁸ ⁵⁴ ⁷⁶

Osteogenesis Imperfecta with Congenital Joint Contractures ⁵⁸ ⁷⁶

Bruck Syndrome, Type 2 ⁴¹

Characteristics:

OMIM:

⁵⁸

Inheritance:
autosomal recessive

HPO:

³³

bruck syndrome 2:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Bone diseases Oral diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁸ 609220

MeSH ⁴⁵ D001176 D010009

MedGen ⁴³ C1836602

UMLS ⁷⁴ C1836602

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Summaries for Bruck Syndrome 2

UniProtKB/Swiss-Prot : ⁷⁶ 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. 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 osteopenia and inguinal hernia

Description from OMIM: 609220

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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
1	bruck syndrome	11.9
2	bruck syndrome 1	11.2
3	brittle bone disorder	10.5
4	col1a1/2-related osteogenesis imperfecta	10.5

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Symptoms & Phenotypes for Bruck Syndrome 2

Human phenotypes related to Bruck Syndrome 2:

³³ (show all 14)

#	Description	HPO Source Accession
1	osteopenia ³³	HP:0000938
2	inguinal hernia ³³	HP:0000023
3	pectus carinatum ³³	HP:0000768
4	short stature ³³	HP:0004322
5	flexion contracture ³³	HP:0001371
6	platyspondyly ³³	HP:0000926
7	wormian bones ³³	HP:0002645
8	elbow flexion contracture ³³	HP:0002987
9	talipes equinovarus ³³	HP:0001762
10	pterygium ³³	HP:0001059
11	knee flexion contracture ³³	HP:0006380
12	femoral bowing ³³	HP:0002980
13	increased susceptibility to fractures ³³	HP:0002659
14	hydroxyprolinuria ³³	HP:0003080

Symptoms via clinical synopsis from OMIM:

⁵⁸

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

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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

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Genetic Tests for Bruck Syndrome 2

Genetic tests related to Bruck Syndrome 2:

#	Genetic test	Affiliating Genes
1	Bruck Syndrome 2 ³⁰	PLOD2

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Anatomical Context for Bruck Syndrome 2

MalaCards organs/tissues related to Bruck Syndrome 2:

⁴²

Bone

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Publications for Bruck Syndrome 2

Articles related to Bruck Syndrome 2:

#	Title	Authors	Year
1	Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome--osteogenesis imperfecta phenotypic spectrum. ( 22689593 )	Puig-Herv?s MT...Ruiz-Perez VL	2012
2	Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2. ( 15523624 )	Ha-Vinh R...Bonaf? L	2004
3	Identification of PLOD2 as telopeptide lysyl hydroxylase, an important enzyme in fibrosis. ( 12881513 )	van der Slot AJ...Bank RA	2003
4	Bruck syndrome (osteogenesis imperfecta with congenital joint contractures): review and report on the first North American case. ( 9129737 )	McPherson E...Clemens M	1997
5	Defective collagen fibril formation and mineralization in osteogenesis imperfecta with congenital joint contractures (Bruck syndrome). ( 8335019 )	Brenner RE...Teller WM	1993
6	Osteogenesis imperfecta with congenital joint contractures (Bruck syndrome). ( 2766569 )	Viljoen D...Beighton P	1989

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Genes for Bruck Syndrome 2

Genes related to Bruck Syndrome 2 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	PLOD2	Procollagen-Lysine,2-Oxoglutarate 5-Dioxygenase 2	Protein Coding	1327.87	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative variation ⁷⁶ Genetic Tests ³⁰ GeneCards inferred via : Disorders Variants (show sections)	12881513 15523624 22689593

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Variations for Bruck Syndrome 2

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

⁷⁶

#	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 14)

#	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	NM_182943.2(PLOD2): c.1559dup (p.Val523Cysfs)	duplication	Pathogenic		GRCh37	Chromosome 3, 145795653: 145795653
8	PLOD2	NM_182943.2(PLOD2): c.1559dup (p.Val523Cysfs)	duplication	Pathogenic		GRCh38	Chromosome 3, 146077866: 146077866
9	PLOD2	NM_182943.2(PLOD2): c.1500+12A> G	single nucleotide variant	Benign	rs73010484	GRCh37	Chromosome 3, 145796891: 145796891
10	PLOD2	NM_182943.2(PLOD2): c.1500+12A> G	single nucleotide variant	Benign	rs73010484	GRCh38	Chromosome 3, 146079104: 146079104
11	PLOD2	NM_182943.2(PLOD2): c.338+4G> A	single nucleotide variant	Benign	rs4681297	GRCh37	Chromosome 3, 145838895: 145838895
12	PLOD2	NM_182943.2(PLOD2): c.338+4G> A	single nucleotide variant	Benign	rs4681297	GRCh38	Chromosome 3, 146121108: 146121108
13	PLOD2	NM_182943.2(PLOD2): c.801C> A (p.Asn267Lys)	single nucleotide variant	Uncertain significance	rs771710305	GRCh38	Chromosome 3, 146091878: 146091878
14	PLOD2	NM_182943.2(PLOD2): c.801C> A (p.Asn267Lys)	single nucleotide variant	Uncertain significance	rs771710305	GRCh37	Chromosome 3, 145809665: 145809665

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Expression for Bruck Syndrome 2

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

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Pathways for Bruck Syndrome 2

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GO Terms for Bruck Syndrome 2

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Bruck Syndrome 2 (BRKS2)

Aliases & Classifications for Bruck Syndrome 2

MalaCards integrated aliases for Bruck Syndrome 2:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Bruck Syndrome 2

Related Diseases for Bruck Syndrome 2

Diseases in the Bruck Syndrome family:

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

Symptoms & Phenotypes for Bruck Syndrome 2

Human phenotypes related to Bruck Syndrome 2:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Bruck Syndrome 2

Interventional clinical trials:

Genetic Tests for Bruck Syndrome 2

Genetic tests related to Bruck Syndrome 2:

Anatomical Context for Bruck Syndrome 2

MalaCards organs/tissues related to Bruck Syndrome 2:

Publications for Bruck Syndrome 2

Articles related to Bruck Syndrome 2:

Genes for Bruck Syndrome 2

Genes related to Bruck Syndrome 2 (1 elite genes):

Variations for Bruck Syndrome 2

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

ClinVar genetic disease variations for Bruck Syndrome 2:

Expression for Bruck Syndrome 2

Pathways for Bruck Syndrome 2

GO Terms for Bruck Syndrome 2

Sources for Bruck Syndrome 2