MCID: ARR024
MIFTS: 19

Arrhythmogenic Right Ventricular Dysplasia, Familial, 12

Categories: Genetic diseases, Cardiovascular diseases

Aliases & Classifications for Arrhythmogenic Right Ventricular Dysplasia, Familial, 12

MalaCards integrated aliases for Arrhythmogenic Right Ventricular Dysplasia, Familial, 12:

Name: Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 57 75 73
Arrhythmogenic Right Ventricular Cardiomyopathy 12 57 12 75
Arrhythmogenic Right Ventricular Dysplasia 12 57 12 13
Arvd12 57 12 75
Arvc12 57 12 75
Arrhythmogenic Right Ventricular Cardiomyopathy, Type 12 29 6
Arrhythmogenic Right Ventricular Cardiomyopathy 12; Arvc12 57
Familial Arrhythmogenic Right Ventricular Dysplasia 12 12
Dysplasia, Ventricular, Right, Arrhythmogenic, Type 12 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity
allelic to naxos disease


HPO:

32
arrhythmogenic right ventricular dysplasia, familial, 12:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:



External Ids:

OMIM 57 611528
Disease Ontology 12 DOID:0110083
ICD10 33 I42.8
MedGen 42 C1969081
MeSH 44 D019571
UMLS 73 C1969081

Summaries for Arrhythmogenic Right Ventricular Dysplasia, Familial, 12

UniProtKB/Swiss-Prot : 75 Arrhythmogenic right ventricular dysplasia, familial, 12: 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.

MalaCards based summary : Arrhythmogenic Right Ventricular Dysplasia, Familial, 12, is also known as arrhythmogenic right ventricular cardiomyopathy 12, and has symptoms including syncope An important gene associated with Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 is JUP (Junction Plakoglobin). Affiliated tissues include heart and skin, and related phenotypes are syncope and ventricular tachycardia

Description from OMIM: 611528

Related Diseases for Arrhythmogenic Right Ventricular Dysplasia, Familial, 12

Symptoms & Phenotypes for Arrhythmogenic Right Ventricular Dysplasia, Familial, 12

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
cardiomyopathy, right ventricular
fibrofatty replacement of right ventricular myocardium
ventricular arrhythmia (sustained vt)
syncope

Skin Nails Hair Hair:
normal hair (no woolly hair)

Skin Nails Hair Skin:
normal skin (no palmoplantar keratoderma)


Clinical features from OMIM:

611528

Human phenotypes related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 12:

32
# Description HPO Frequency HPO Source Accession
1 syncope 32 HP:0001279
2 ventricular tachycardia 32 HP:0004756
3 ventricular arrhythmia 32 HP:0004308
4 right ventricular cardiomyopathy 32 HP:0011663

UMLS symptoms related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 12:


syncope

Drugs & Therapeutics for Arrhythmogenic Right Ventricular Dysplasia, Familial, 12

Search Clinical Trials , NIH Clinical Center for Arrhythmogenic Right Ventricular Dysplasia, Familial, 12

Genetic Tests for Arrhythmogenic Right Ventricular Dysplasia, Familial, 12

Genetic tests related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 12:

# Genetic test Affiliating Genes
1 Arrhythmogenic Right Ventricular Cardiomyopathy, Type 12 29 JUP

Anatomical Context for Arrhythmogenic Right Ventricular Dysplasia, Familial, 12

MalaCards organs/tissues related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 12:

41
Heart, Skin

Publications for Arrhythmogenic Right Ventricular Dysplasia, Familial, 12

Variations for Arrhythmogenic Right Ventricular Dysplasia, Familial, 12

UniProtKB/Swiss-Prot genetic disease variations for Arrhythmogenic Right Ventricular Dysplasia, Familial, 12:

75
# Symbol AA change Variation ID SNP ID
1 JUP p.Thr19Ile VAR_065698 rs570878629

ClinVar genetic disease variations for Arrhythmogenic Right Ventricular Dysplasia, Familial, 12:

6
(show top 50) (show all 196)
# Gene Variation Type Significance SNP ID Assembly Location
1 JUP NM_002230.2(JUP): c.116_118dupGCA (p.Ser39_Lys40insSer) duplication Pathogenic rs113994176 GRCh37 Chromosome 17, 39927989: 39927991
2 JUP NM_002230.2(JUP): c.116_118dupGCA (p.Ser39_Lys40insSer) duplication Pathogenic rs113994176 GRCh38 Chromosome 17, 41771737: 41771739
3 JUP NM_002230.2(JUP): c.2069A> G (p.Asn690Ser) single nucleotide variant Uncertain significance rs147628503 GRCh37 Chromosome 17, 39912444: 39912444
4 JUP NM_002230.2(JUP): c.2069A> G (p.Asn690Ser) single nucleotide variant Uncertain significance rs147628503 GRCh38 Chromosome 17, 41756192: 41756192
5 JUP NM_002230.2(JUP): c.1213G> A (p.Val405Ile) single nucleotide variant Uncertain significance rs200019016 GRCh37 Chromosome 17, 39919519: 39919519
6 JUP NM_002230.2(JUP): c.1213G> A (p.Val405Ile) single nucleotide variant Uncertain significance rs200019016 GRCh38 Chromosome 17, 41763267: 41763267
7 JUP NM_002230.2(JUP): c.945C> T (p.Leu315=) single nucleotide variant Likely benign rs146804895 GRCh37 Chromosome 17, 39921284: 39921284
8 JUP NM_002230.2(JUP): c.945C> T (p.Leu315=) single nucleotide variant Likely benign rs146804895 GRCh38 Chromosome 17, 41765032: 41765032
9 JUP NM_002230.2(JUP): c.801C> T (p.Ala267=) single nucleotide variant Likely benign rs138397457 GRCh37 Chromosome 17, 39923739: 39923739
10 JUP NM_002230.2(JUP): c.801C> T (p.Ala267=) single nucleotide variant Likely benign rs138397457 GRCh38 Chromosome 17, 41767487: 41767487
11 JUP NM_002230.2(JUP): c.527G> A (p.Arg176Gln) single nucleotide variant Benign rs144171604 GRCh37 Chromosome 17, 39925401: 39925401
12 JUP NM_002230.2(JUP): c.527G> A (p.Arg176Gln) single nucleotide variant Benign rs144171604 GRCh38 Chromosome 17, 41769149: 41769149
13 JUP NM_002230.2(JUP): c.1989C> T (p.Arg663=) single nucleotide variant Conflicting interpretations of pathogenicity rs145175985 GRCh37 Chromosome 17, 39913724: 39913724
14 JUP NM_002230.2(JUP): c.1989C> T (p.Arg663=) single nucleotide variant Conflicting interpretations of pathogenicity rs145175985 GRCh38 Chromosome 17, 41757472: 41757472
15 JUP NM_002230.2(JUP): c.1910G> A (p.Arg637His) single nucleotide variant Conflicting interpretations of pathogenicity rs142095597 GRCh37 Chromosome 17, 39913900: 39913900
16 JUP NM_002230.2(JUP): c.1910G> A (p.Arg637His) single nucleotide variant Conflicting interpretations of pathogenicity rs142095597 GRCh38 Chromosome 17, 41757648: 41757648
17 JUP NM_002230.2(JUP): c.926A> G (p.Asn309Ser) single nucleotide variant Uncertain significance rs140606359 GRCh37 Chromosome 17, 39921303: 39921303
18 JUP NM_002230.2(JUP): c.926A> G (p.Asn309Ser) single nucleotide variant Uncertain significance rs140606359 GRCh38 Chromosome 17, 41765051: 41765051
19 JUP NM_002230.2(JUP): c.633C> T (p.Asn211=) single nucleotide variant Benign/Likely benign rs372145644 GRCh37 Chromosome 17, 39925295: 39925295
20 JUP NM_002230.2(JUP): c.633C> T (p.Asn211=) single nucleotide variant Benign/Likely benign rs372145644 GRCh38 Chromosome 17, 41769043: 41769043
21 JUP NM_002230.2(JUP): c.2105G> A (p.Arg702His) single nucleotide variant Uncertain significance rs200690479 GRCh37 Chromosome 17, 39912129: 39912129
22 JUP NM_002230.2(JUP): c.2105G> A (p.Arg702His) single nucleotide variant Uncertain significance rs200690479 GRCh38 Chromosome 17, 41755877: 41755877
23 JUP NM_002230.2(JUP): c.2086+7G> C single nucleotide variant Likely benign rs727504940 GRCh37 Chromosome 17, 39912420: 39912420
24 JUP NM_002230.2(JUP): c.2086+7G> C single nucleotide variant Likely benign rs727504940 GRCh38 Chromosome 17, 41756168: 41756168
25 JUP NM_002230.2(JUP): c.1807G> T (p.Val603Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs200327969 GRCh38 Chromosome 17, 41757751: 41757751
26 JUP NM_002230.2(JUP): c.1807G> T (p.Val603Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs200327969 GRCh37 Chromosome 17, 39914003: 39914003
27 JUP NM_002230.2(JUP): c.1366G> A (p.Val456Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs78437817 GRCh37 Chromosome 17, 39919366: 39919366
28 JUP NM_002230.2(JUP): c.1366G> A (p.Val456Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs78437817 GRCh38 Chromosome 17, 41763114: 41763114
29 JUP NM_002230.2(JUP): c.1172G> A (p.Ser391Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs199826380 GRCh38 Chromosome 17, 41763308: 41763308
30 JUP NM_002230.2(JUP): c.1172G> A (p.Ser391Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs199826380 GRCh37 Chromosome 17, 39919560: 39919560
31 JUP NM_002230.2(JUP): c.526C> T (p.Arg176Trp) single nucleotide variant Uncertain significance rs368336007 GRCh37 Chromosome 17, 39925402: 39925402
32 JUP NM_002230.2(JUP): c.526C> T (p.Arg176Trp) single nucleotide variant Uncertain significance rs368336007 GRCh38 Chromosome 17, 41769150: 41769150
33 JUP NM_002230.2(JUP): c.1876G> A (p.Ala626Thr) single nucleotide variant Uncertain significance rs782547688 GRCh37 Chromosome 17, 39913934: 39913934
34 JUP NM_002230.2(JUP): c.1876G> A (p.Ala626Thr) single nucleotide variant Uncertain significance rs782547688 GRCh38 Chromosome 17, 41757682: 41757682
35 JUP NM_002230.2(JUP): c.1702C> T (p.His568Tyr) single nucleotide variant Uncertain significance rs794729048 GRCh37 Chromosome 17, 39914722: 39914722
36 JUP NM_002230.2(JUP): c.1702C> T (p.His568Tyr) single nucleotide variant Uncertain significance rs794729048 GRCh38 Chromosome 17, 41758470: 41758470
37 JUP NM_002230.2(JUP): c.1130G> A (p.Arg377His) single nucleotide variant Uncertain significance rs794729044 GRCh37 Chromosome 17, 39920993: 39920993
38 JUP NM_002230.2(JUP): c.1130G> A (p.Arg377His) single nucleotide variant Uncertain significance rs794729044 GRCh38 Chromosome 17, 41764741: 41764741
39 JUP NM_002230.2(JUP): c.1099C> G (p.Arg367Gly) single nucleotide variant Uncertain significance rs76416187 GRCh37 Chromosome 17, 39921024: 39921024
40 JUP NM_002230.2(JUP): c.1099C> G (p.Arg367Gly) single nucleotide variant Uncertain significance rs76416187 GRCh38 Chromosome 17, 41764772: 41764772
41 JUP NM_002230.2(JUP): c.892G> A (p.Gly298Ser) single nucleotide variant Uncertain significance rs199597864 GRCh37 Chromosome 17, 39923648: 39923648
42 JUP NM_002230.2(JUP): c.892G> A (p.Gly298Ser) single nucleotide variant Uncertain significance rs199597864 GRCh38 Chromosome 17, 41767396: 41767396
43 JUP NM_002230.2(JUP): c.509C> T (p.Ser170Leu) single nucleotide variant Uncertain significance rs782284038 GRCh37 Chromosome 17, 39925419: 39925419
44 JUP NM_002230.2(JUP): c.509C> T (p.Ser170Leu) single nucleotide variant Uncertain significance rs782284038 GRCh38 Chromosome 17, 41769167: 41769167
45 JUP NM_002230.2(JUP): c.427G> A (p.Ala143Thr) single nucleotide variant Uncertain significance rs375788626 GRCh37 Chromosome 17, 39925711: 39925711
46 JUP NM_002230.2(JUP): c.427G> A (p.Ala143Thr) single nucleotide variant Uncertain significance rs375788626 GRCh38 Chromosome 17, 41769459: 41769459
47 JUP NM_002230.2(JUP): c.804C> T (p.Asp268=) single nucleotide variant Likely benign rs782667629 GRCh37 Chromosome 17, 39923736: 39923736
48 JUP NM_002230.2(JUP): c.804C> T (p.Asp268=) single nucleotide variant Likely benign rs782667629 GRCh38 Chromosome 17, 41767484: 41767484
49 JUP NM_002230.2(JUP): c.578T> C (p.Met193Thr) single nucleotide variant Uncertain significance rs139496777 GRCh37 Chromosome 17, 39925350: 39925350
50 JUP NM_002230.2(JUP): c.578T> C (p.Met193Thr) single nucleotide variant Uncertain significance rs139496777 GRCh38 Chromosome 17, 41769098: 41769098

Expression for Arrhythmogenic Right Ventricular Dysplasia, Familial, 12

Search GEO for disease gene expression data for Arrhythmogenic Right Ventricular Dysplasia, Familial, 12.

Pathways for Arrhythmogenic Right Ventricular Dysplasia, Familial, 12

GO Terms for Arrhythmogenic Right Ventricular Dysplasia, Familial, 12

Sources for Arrhythmogenic Right Ventricular Dysplasia, Familial, 12

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