LGMD2X
MCID: CRD241
MIFTS: 20

Cardiac Arrhythmia with Increased Serum Creatine Kinase (LGMD2X)

Categories: Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Cardiac Arrhythmia with Increased Serum Creatine Kinase

MalaCards integrated aliases for Cardiac Arrhythmia with Increased Serum Creatine Kinase:

Name: Cardiac Arrhythmia with Increased Serum Creatine Kinase 57
Muscular Dystrophy, Limb-Girdle, Type 2x 57 75 6
Lgmd2x 57 59 75
Autosomal Recessive Limb-Girdle Muscular Dystrophy-Cardiac Arrhythmia Syndrome 59
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x 59
Muscular Dystrophy, Limb-Girdle, Type 2x; Lgmd2x 57
Limb-Girdle Muscular Dystrophy 2x 75
Carick 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
one family with 3 affected individuals has been reported (last curated february 2016)
variable age at onset of arrhythmia (range 12 to 59 years)
onset of muscle weakness in late adulthood


HPO:

32
cardiac arrhythmia with increased serum creatine kinase:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Cardiac Arrhythmia with Increased Serum Creatine Kinase

OMIM : 57 Cardiac arrhythmia with increased serum creatine kinase (CARICK) is an autosomal recessive disorder characterized by syncopal episodes due to second-degree atrioventricular (AV) block necessitating pacemaker implantation. The disorder becomes apparent in the teenage or adult years. Affected individuals also have markedly increased serum creatine kinase, which can increase further after strenuous exercise. Some patients may develop late-onset proximal muscle weakness associated with dystrophic changes on muscle biopsy (summary by Schindler et al., 2016). (616812)

MalaCards based summary : Cardiac Arrhythmia with Increased Serum Creatine Kinase, also known as muscular dystrophy, limb-girdle, type 2x, is related to autosomal recessive limb-girdle muscular dystrophy type 2x. An important gene associated with Cardiac Arrhythmia with Increased Serum Creatine Kinase is BVES (Blood Vessel Epicardial Substance). Affiliated tissues include skeletal muscle, and related phenotypes are atrioventricular block and elevated serum creatine phosphokinase

UniProtKB/Swiss-Prot : 75 Limb-girdle muscular dystrophy 2X: A form of autosomal recessive limb-girdle muscular dystrophy, a degenerative myopathy characterized by slowly progressive wasting and weakness of the proximal muscles of arms and legs around the pelvic or shoulder girdles, elevated creatine kinase levels and dystrophic features on muscle biopsy. LGMD2X patients also develop cardiac arrhythmias resulting in syncopal episodes as young adults or later in life.

Related Diseases for Cardiac Arrhythmia with Increased Serum Creatine Kinase

Diseases related to Cardiac Arrhythmia with Increased Serum Creatine Kinase via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 autosomal recessive limb-girdle muscular dystrophy type 2x 11.7

Symptoms & Phenotypes for Cardiac Arrhythmia with Increased Serum Creatine Kinase

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
syncopal episodes
cardiac arrhythmias
second-degree atrioventricular block

Muscle Soft Tissue:
increased internal nuclei seen on muscle biopsy
muscular dystrophy (in 1 of 3 patients)
proximal muscle weakness, lower limbs, slowly progressive (1 of 3 patients)
fiber type variation
plasma membrane discontinuities
more
Laboratory Abnormalities:
increased serum creatine kinase


Clinical features from OMIM:

616812

Human phenotypes related to Cardiac Arrhythmia with Increased Serum Creatine Kinase:

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 atrioventricular block 32 HP:0001678
2 elevated serum creatine phosphokinase 32 HP:0003236
3 proximal muscle weakness 32 HP:0003701
4 muscular dystrophy 32 HP:0003560
5 limb-girdle muscle weakness 32 HP:0003325
6 limb muscle weakness 32 HP:0003690
7 centrally nucleated skeletal muscle fibers 32 HP:0003687
8 syncope 32 HP:0001279
9 sinus bradycardia 32 HP:0001688
10 loss of ability to walk 32 HP:0006957

Drugs & Therapeutics for Cardiac Arrhythmia with Increased Serum Creatine Kinase

Search Clinical Trials , NIH Clinical Center for Cardiac Arrhythmia with Increased Serum Creatine Kinase

Genetic Tests for Cardiac Arrhythmia with Increased Serum Creatine Kinase

Anatomical Context for Cardiac Arrhythmia with Increased Serum Creatine Kinase

MalaCards organs/tissues related to Cardiac Arrhythmia with Increased Serum Creatine Kinase:

41
Skeletal Muscle

Publications for Cardiac Arrhythmia with Increased Serum Creatine Kinase

Variations for Cardiac Arrhythmia with Increased Serum Creatine Kinase

UniProtKB/Swiss-Prot genetic disease variations for Cardiac Arrhythmia with Increased Serum Creatine Kinase:

75
# Symbol AA change Variation ID SNP ID
1 BVES p.Ser201Phe VAR_075625 rs869025337

ClinVar genetic disease variations for Cardiac Arrhythmia with Increased Serum Creatine Kinase:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 BVES NM_001199563.1(BVES): c.602C> T (p.Ser201Phe) single nucleotide variant Pathogenic rs869025337 GRCh37 Chromosome 6, 105572468: 105572468
2 BVES NM_001199563.1(BVES): c.602C> T (p.Ser201Phe) single nucleotide variant Pathogenic rs869025337 GRCh38 Chromosome 6, 105124593: 105124593

Expression for Cardiac Arrhythmia with Increased Serum Creatine Kinase

Search GEO for disease gene expression data for Cardiac Arrhythmia with Increased Serum Creatine Kinase.

Pathways for Cardiac Arrhythmia with Increased Serum Creatine Kinase

GO Terms for Cardiac Arrhythmia with Increased Serum Creatine Kinase

Sources for Cardiac Arrhythmia with Increased Serum Creatine Kinase

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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