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 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:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 609220

MedGen ⁴² C1836602

MeSH ⁴⁴ D001176 D010009

UMLS ⁷³ C1836602

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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

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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	Top Affiliating Genes
1	bruck syndrome 1	11.0

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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 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

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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 ²⁹	PLOD2

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Anatomical Context for Bruck Syndrome 2

MalaCards organs/tissues related to Bruck Syndrome 2:

⁴¹

Bone

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Publications for Bruck Syndrome 2

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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	1327.81	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ 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:

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

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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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Sources for Bruck Syndrome 2

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