CARICK
MCID: CRD241
MIFTS: 25

Cardiac Arrhythmia with Increased Serum Creatine Kinase (CARICK)

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 58 76
Muscular Dystrophy, Limb-Girdle, Type 2x 58 76 6
Lgmd2x 58 60 76
Carick 58 76
Autosomal Recessive Limb-Girdle Muscular Dystrophy-Cardiac Arrhythmia Syndrome 60
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x 60
Muscular Dystrophy, Limb-Girdle, Type 2x; Lgmd2x 58
Limb-Girdle Muscular Dystrophy 2x 76
Muscular Dystrophies, Limb-Girdle 45
Dystrophy, Muscular, Limb-Girdle 41

Characteristics:

OMIM:

58
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:

33
cardiac arrhythmia with increased serum creatine kinase:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Cardiac Arrhythmia with Increased Serum Creatine Kinase

OMIM : 58 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 muscular dystrophy, limb-girdle, autosomal recessive 2 and muscular dystrophy, limb-girdle, autosomal recessive 1. 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 proximal muscle weakness

UniProtKB/Swiss-Prot : 76 Cardiac arrhythmia with increased serum creatine kinase: An autosomal recessive disorder characterized by syncopal episodes and 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.

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:

(show top 50) (show all 59)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy, limb-girdle, autosomal recessive 2 13.0
2 muscular dystrophy, limb-girdle, autosomal recessive 1 12.9
3 muscular dystrophy, limb-girdle, autosomal dominant 1 12.9
4 muscular dystrophy, limb-girdle, autosomal dominant 2 12.8
5 muscular dystrophy, limb-girdle, autosomal recessive 8 12.8
6 muscular dystrophy, limb-girdle, autosomal recessive 6 12.8
7 muscular dystrophy, limb-girdle, autosomal recessive 7 12.8
8 muscular dystrophy, limb-girdle, autosomal recessive 3 12.8
9 muscular dystrophy, limb-girdle, autosomal recessive 10 12.8
10 muscular dystrophy, limb-girdle, autosomal recessive 12 12.8
11 muscular dystrophy, limb-girdle, autosomal recessive 17 12.8
12 muscular dystrophy, limb-girdle, autosomal recessive 5 12.8
13 muscular dystrophy, limb-girdle, autosomal recessive 4 12.8
14 muscular dystrophy, limb-girdle, autosomal dominant 3 12.8
15 muscular dystrophy, limb-girdle, autosomal recessive 21 12.8
16 muscular dystrophy, limb-girdle, autosomal dominant 4 12.8
17 muscular dystrophy, limb-girdle, autosomal recessive 18 12.8
18 muscular dystrophy, limb-girdle, autosomal recessive 23 12.7
19 muscular dystrophy, limb-girdle, type 1h 12.6
20 muscular dystrophy limb girdle type 2a, erb type 12.4
21 limb-girdle muscular dystrophy 12.2
22 emery-dreifuss muscular dystrophy 2, autosomal dominant 12.1
23 muscular dystrophy-dystroglycanopathy , type c, 5 11.9
24 myopathy, myofibrillar, 3 11.9
25 muscular dystrophy-dystroglycanopathy , type c, 1 11.9
26 muscular dystrophy-dystroglycanopathy , type c, 9 11.9
27 muscular dystrophy-dystroglycanopathy , type c, 14 11.9
28 muscular dystrophy-dystroglycanopathy , type c, 7 11.9
29 muscular dystrophy-dystroglycanopathy , type c, 4 11.8
30 myopathy, myofibrillar, 1 11.8
31 muscular dystrophy-dystroglycanopathy , type c, 3 11.8
32 muscular dystrophy-dystroglycanopathy , type c, 2 11.8
33 muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue 11.8
34 myopathy, autosomal recessive, with rigid spine and distal joint contractures 11.8
35 autosomal recessive limb-girdle muscular dystrophy type 2b 11.8
36 autosomal recessive limb-girdle muscular dystrophy type 2x 11.7
37 bethlem myopathy 1 11.7
38 ullrich congenital muscular dystrophy 1 11.7
39 rippling muscle disease 2 11.7
40 muscular dystrophy-dystroglycanopathy , type c, 8 11.7
41 autosomal recessive limb-girdle muscular dystrophy 11.6
42 limb-girdle muscular dystrophy type 1c 11.6
43 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 11.4
44 autosomal dominant limb-girdle muscular dystrophy 11.4
45 autosomal recessive limb-girdle muscular dystrophy type 2a 11.4
46 autosomal recessive limb-girdle muscular dystrophy type 2c 11.4
47 autosomal recessive limb-girdle muscular dystrophy type 2d 11.4
48 autosomal recessive limb-girdle muscular dystrophy type 2g 11.4
49 autosomal recessive limb-girdle muscular dystrophy type 2j 11.4
50 autosomal recessive limb-girdle muscular dystrophy type 2l 11.4

Graphical network of the top 20 diseases related to Cardiac Arrhythmia with Increased Serum Creatine Kinase:



Diseases related to Cardiac Arrhythmia with Increased Serum Creatine Kinase

Symptoms & Phenotypes for Cardiac Arrhythmia with Increased Serum Creatine Kinase

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

33 (show all 10)
# Description HPO Frequency HPO Source Accession
1 atrioventricular block 33 HP:0001678
2 proximal muscle weakness 33 HP:0003701
3 muscular dystrophy 33 HP:0003560
4 limb-girdle muscle weakness 33 HP:0003325
5 limb muscle weakness 33 HP:0003690
6 centrally nucleated skeletal muscle fibers 33 HP:0003687
7 syncope 33 HP:0001279
8 sinus bradycardia 33 HP:0001688
9 loss of ability to walk 33 HP:0006957
10 elevated serum creatine kinase 33 HP:0003236

Symptoms via clinical synopsis from OMIM:

58
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

Drugs & Therapeutics for Cardiac Arrhythmia with Increased Serum Creatine Kinase

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

Cochrane evidence based reviews: muscular dystrophies, limb-girdle

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:

42
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:

76
# 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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