ARVD13
MCID: ARR041
MIFTS: 21

Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 (ARVD13)

Categories: Cardiovascular diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Arrhythmogenic Right Ventricular Dysplasia, Familial, 13

MalaCards integrated aliases for Arrhythmogenic Right Ventricular Dysplasia, Familial, 13:

Name: Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 58 76 30 6 74
Arrhythmogenic Right Ventricular Cardiomyopathy 13 58 12 76
Arvd13 58 12 76
Arvc13 58 12 76
Dysplasia, Ventricular, Right, Arrhythmogenic, Familial, Type 13 41
Arrhythmogenic Right Ventricular Cardiomyopathy 13; Arvc13 58
Familial Arrhythmogenic Right Ventricular Dysplasia 13 12
Arrhythmogenic Right Ventricular Dysplasia 13 12

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
based on report of 2 families (last curated january 2014)
evidence of incomplete penetrance in one family


HPO:

33
arrhythmogenic right ventricular dysplasia, familial, 13:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110084
OMIM 58 615616
MeSH 45 D019571
ICD10 34 I42.8
SNOMED-CT via HPO 70 25569003 263681008 6374002
UMLS 74 C3810138

Summaries for Arrhythmogenic Right Ventricular Dysplasia, Familial, 13

OMIM : 58 Arrhythmogenic right ventricular cardiomyopathy/dysplasia is characterized by progressive fibrofatty myocardial replacement, primarily of the right ventricle. The main clinical features are structural and functional abnormalities of the ventricles, electrocardiographic depolarization/repolarization changes, reentrant arrhythmias, and sudden death (summary by van Hengel et al., 2013). (615616)

MalaCards based summary : Arrhythmogenic Right Ventricular Dysplasia, Familial, 13, is also known as arrhythmogenic right ventricular cardiomyopathy 13. An important gene associated with Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 is CTNNA3 (Catenin Alpha 3). Affiliated tissues include heart and skin, and related phenotypes are bundle branch block and ventricular tachycardia

Disease Ontology : 12 An arrhythmogenic right ventricular dysplasia that xhas material basis in heterozygous mutation in the CTNNA3 gene on chromosome 10q21.

UniProtKB/Swiss-Prot : 76 Arrhythmogenic right ventricular dysplasia, familial, 13: A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias.

Symptoms & Phenotypes for Arrhythmogenic Right Ventricular Dysplasia, Familial, 13

Human phenotypes related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 13:

33
# Description HPO Frequency HPO Source Accession
1 bundle branch block 33 HP:0011710
2 ventricular tachycardia 33 HP:0004756

Symptoms via clinical synopsis from OMIM:

58
Cardiovascular Heart:
ventricular tachycardia, sustained or nonsustained
left bundle-branch block morphology with superior axis deviation
late potentials in the absence of qrs duration greater than 110 ms
right ventricular dilation, mild to severe
kinetic abnormalities of right ventricle
more

Clinical features from OMIM:

615616

Drugs & Therapeutics for Arrhythmogenic Right Ventricular Dysplasia, Familial, 13

Search Clinical Trials , NIH Clinical Center for Arrhythmogenic Right Ventricular Dysplasia, Familial, 13

Genetic Tests for Arrhythmogenic Right Ventricular Dysplasia, Familial, 13

Genetic tests related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 13:

# Genetic test Affiliating Genes
1 Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 30 CTNNA3

Anatomical Context for Arrhythmogenic Right Ventricular Dysplasia, Familial, 13

MalaCards organs/tissues related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 13:

42
Heart, Skin

Publications for Arrhythmogenic Right Ventricular Dysplasia, Familial, 13

Articles related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 13:

# Title Authors Year
1
Mutations in the area composita protein αT-catenin are associated with arrhythmogenic right ventricular cardiomyopathy. ( 23136403 )
2013

Variations for Arrhythmogenic Right Ventricular Dysplasia, Familial, 13

UniProtKB/Swiss-Prot genetic disease variations for Arrhythmogenic Right Ventricular Dysplasia, Familial, 13:

76
# Symbol AA change Variation ID SNP ID
1 CTNNA3 p.Val94Asp VAR_070998 rs587777134

ClinVar genetic disease variations for Arrhythmogenic Right Ventricular Dysplasia, Familial, 13:

6 (show top 50) (show all 213)
# Gene Variation Type Significance SNP ID Assembly Location
1 CTNNA3 NM_013266.3(CTNNA3): c.281T> A (p.Val94Asp) single nucleotide variant Pathogenic rs587777134 GRCh37 Chromosome 10, 69366626: 69366626
2 CTNNA3 NM_013266.3(CTNNA3): c.281T> A (p.Val94Asp) single nucleotide variant Pathogenic rs587777134 GRCh38 Chromosome 10, 67606868: 67606868
3 CTNNA3 NM_013266.3(CTNNA3): c.2296_2298delTTG (p.Leu766del) deletion Pathogenic rs587777135 GRCh37 Chromosome 10, 67726472: 67726474
4 CTNNA3 NM_013266.3(CTNNA3): c.2296_2298delTTG (p.Leu766del) deletion Pathogenic rs587777135 GRCh38 Chromosome 10, 65966714: 65966716
5 CTNNA3 NM_013266.3(CTNNA3): c.457G> C (p.Ala153Pro) single nucleotide variant Uncertain significance rs147116577 GRCh37 Chromosome 10, 69299263: 69299263
6 CTNNA3 NM_013266.3(CTNNA3): c.457G> C (p.Ala153Pro) single nucleotide variant Uncertain significance rs147116577 GRCh38 Chromosome 10, 67539505: 67539505
7 CTNNA3 NM_013266.3(CTNNA3): c.1303A> G (p.Met435Val) single nucleotide variant Uncertain significance rs377404952 GRCh37 Chromosome 10, 68381521: 68381521
8 CTNNA3 NM_013266.3(CTNNA3): c.1303A> G (p.Met435Val) single nucleotide variant Uncertain significance rs377404952 GRCh38 Chromosome 10, 66621763: 66621763
9 CTNNA3 NM_013266.3(CTNNA3): c.1231A> G (p.Ile411Val) single nucleotide variant Uncertain significance rs372808360 GRCh37 Chromosome 10, 68526072: 68526072
10 CTNNA3 NM_013266.3(CTNNA3): c.1231A> G (p.Ile411Val) single nucleotide variant Uncertain significance rs372808360 GRCh38 Chromosome 10, 66766314: 66766314
11 CTNNA3 NM_013266.3(CTNNA3): c.348A> C (p.Pro116=) single nucleotide variant Benign rs61749224 GRCh38 Chromosome 10, 67539614: 67539614
12 CTNNA3 NM_013266.3(CTNNA3): c.348A> C (p.Pro116=) single nucleotide variant Benign rs61749224 GRCh37 Chromosome 10, 69299372: 69299372
13 CTNNA3 NM_013266.3(CTNNA3): c.1073C> A (p.Thr358Asn) single nucleotide variant Uncertain significance rs751471841 GRCh37 Chromosome 10, 68535257: 68535257
14 CTNNA3 NM_013266.3(CTNNA3): c.1073C> A (p.Thr358Asn) single nucleotide variant Uncertain significance rs751471841 GRCh38 Chromosome 10, 66775499: 66775499
15 CTNNA3 NM_001127384.2(CTNNA3): c.1532-1G> A single nucleotide variant Uncertain significance rs756034227 GRCh38 Chromosome 10, 66379353: 66379353
16 CTNNA3 NM_001127384.2(CTNNA3): c.1532-1G> A single nucleotide variant Uncertain significance rs756034227 GRCh37 Chromosome 10, 68139111: 68139111
17 CTNNA3 NM_013266.3(CTNNA3): c.2553G> A (p.Lys851=) single nucleotide variant Benign rs115814032 GRCh37 Chromosome 10, 67680223: 67680223
18 CTNNA3 NM_013266.3(CTNNA3): c.2553G> A (p.Lys851=) single nucleotide variant Benign rs115814032 GRCh38 Chromosome 10, 65920465: 65920465
19 CTNNA3 NM_013266.3(CTNNA3): c.1978-9_1978-8delAT deletion Likely benign rs750667259 GRCh38 Chromosome 10, 66069497: 66069498
20 CTNNA3 NM_013266.3(CTNNA3): c.1978-9_1978-8delAT deletion Likely benign rs750667259 GRCh37 Chromosome 10, 67829255: 67829256
21 CTNNA3 NM_013266.3(CTNNA3): c.1900G> A (p.Glu634Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs77165728 GRCh37 Chromosome 10, 67862992: 67862992
22 CTNNA3 NM_013266.3(CTNNA3): c.1900G> A (p.Glu634Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs77165728 GRCh38 Chromosome 10, 66103234: 66103234
23 CTNNA3 NM_013266.3(CTNNA3): c.1865G> A (p.Cys622Tyr) single nucleotide variant Uncertain significance rs367616357 GRCh38 Chromosome 10, 66280489: 66280489
24 CTNNA3 NM_013266.3(CTNNA3): c.1865G> A (p.Cys622Tyr) single nucleotide variant Uncertain significance rs367616357 GRCh37 Chromosome 10, 68040247: 68040247
25 CTNNA3 NM_013266.3(CTNNA3): c.1603C> T (p.Arg535Cys) single nucleotide variant Benign rs41274090 GRCh37 Chromosome 10, 68139039: 68139039
26 CTNNA3 NM_013266.3(CTNNA3): c.1603C> T (p.Arg535Cys) single nucleotide variant Benign rs41274090 GRCh38 Chromosome 10, 66379281: 66379281
27 CTNNA3 NM_013266.3(CTNNA3): c.1047C> T (p.Asn349=) single nucleotide variant Benign rs60262757 GRCh38 Chromosome 10, 67180317: 67180317
28 CTNNA3 NM_013266.3(CTNNA3): c.1047C> T (p.Asn349=) single nucleotide variant Benign rs60262757 GRCh37 Chromosome 10, 68940075: 68940075
29 CTNNA3 NM_013266.3(CTNNA3): c.580-8C> T single nucleotide variant Benign rs141983252 GRCh37 Chromosome 10, 68979636: 68979636
30 CTNNA3 NM_013266.3(CTNNA3): c.580-8C> T single nucleotide variant Benign rs141983252 GRCh38 Chromosome 10, 67219878: 67219878
31 CTNNA3 NM_013266.3(CTNNA3): c.578A> G (p.Gln193Arg) single nucleotide variant Uncertain significance rs373233387 GRCh38 Chromosome 10, 67521843: 67521843
32 CTNNA3 NM_013266.3(CTNNA3): c.578A> G (p.Gln193Arg) single nucleotide variant Uncertain significance rs373233387 GRCh37 Chromosome 10, 69281601: 69281601
33 CTNNA3 NM_013266.3(CTNNA3): c.478T> A (p.Ser160Thr) single nucleotide variant Benign rs61749223 GRCh38 Chromosome 10, 67521943: 67521943
34 CTNNA3 NM_013266.3(CTNNA3): c.478T> A (p.Ser160Thr) single nucleotide variant Benign rs61749223 GRCh37 Chromosome 10, 69281701: 69281701
35 CTNNA3 NM_013266.3(CTNNA3): c.399G> A (p.Thr133=) single nucleotide variant Benign rs150376558 GRCh37 Chromosome 10, 69299321: 69299321
36 CTNNA3 NM_013266.3(CTNNA3): c.399G> A (p.Thr133=) single nucleotide variant Benign rs150376558 GRCh38 Chromosome 10, 67539563: 67539563
37 CTNNA3 NM_013266.3(CTNNA3): c.213C> G (p.Asp71Glu) single nucleotide variant Uncertain significance rs771791661 GRCh38 Chromosome 10, 67606936: 67606936
38 CTNNA3 NM_013266.3(CTNNA3): c.213C> G (p.Asp71Glu) single nucleotide variant Uncertain significance rs771791661 GRCh37 Chromosome 10, 69366694: 69366694
39 CTNNA3 NM_013266.3(CTNNA3): c.33C> T (p.Ile11=) single nucleotide variant Benign rs61735044 GRCh38 Chromosome 10, 67647481: 67647481
40 CTNNA3 NM_013266.3(CTNNA3): c.33C> T (p.Ile11=) single nucleotide variant Benign rs61735044 GRCh37 Chromosome 10, 69407239: 69407239
41 CTNNA3 NM_013266.3(CTNNA3): c.2638dupA (p.Ile880Asnfs) duplication Uncertain significance rs761152565 GRCh37 Chromosome 10, 67680138: 67680138
42 CTNNA3 NM_013266.3(CTNNA3): c.2638dupA (p.Ile880Asnfs) duplication Uncertain significance rs761152565 GRCh38 Chromosome 10, 65920380: 65920380
43 CTNNA3 NM_013266.3(CTNNA3): c.2501G> A (p.Arg834Gln) single nucleotide variant Uncertain significance rs373081692 GRCh37 Chromosome 10, 67680275: 67680275
44 CTNNA3 NM_013266.3(CTNNA3): c.2501G> A (p.Arg834Gln) single nucleotide variant Uncertain significance rs373081692 GRCh38 Chromosome 10, 65920517: 65920517
45 CTNNA3 NM_013266.3(CTNNA3): c.1979C> T (p.Ala660Val) single nucleotide variant Uncertain significance rs778640435 GRCh37 Chromosome 10, 67829246: 67829246
46 CTNNA3 NM_013266.3(CTNNA3): c.1979C> T (p.Ala660Val) single nucleotide variant Uncertain significance rs778640435 GRCh38 Chromosome 10, 66069488: 66069488
47 CTNNA3 NM_013266.3(CTNNA3): c.1894G> A (p.Glu632Lys) single nucleotide variant Uncertain significance rs1060502222 GRCh37 Chromosome 10, 67862998: 67862998
48 CTNNA3 NM_013266.3(CTNNA3): c.1894G> A (p.Glu632Lys) single nucleotide variant Uncertain significance rs1060502222 GRCh38 Chromosome 10, 66103240: 66103240
49 CTNNA3 NM_013266.3(CTNNA3): c.1823A> T (p.Asp608Val) single nucleotide variant Uncertain significance rs138314889 GRCh37 Chromosome 10, 68040289: 68040289
50 CTNNA3 NM_013266.3(CTNNA3): c.1823A> T (p.Asp608Val) single nucleotide variant Uncertain significance rs138314889 GRCh38 Chromosome 10, 66280531: 66280531

Expression for Arrhythmogenic Right Ventricular Dysplasia, Familial, 13

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Pathways for Arrhythmogenic Right Ventricular Dysplasia, Familial, 13

GO Terms for Arrhythmogenic Right Ventricular Dysplasia, Familial, 13

Sources for Arrhythmogenic Right Ventricular Dysplasia, Familial, 13

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