ARVD12
MCID: ARR024
MIFTS: 20

Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 (ARVD12)

Categories: Cardiovascular diseases, Genetic diseases, Rare diseases, Skin 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 heterogeneous autosomal dominant inheritance


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

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

Symptoms via clinical synopsis from OMIM:

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

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 286)
# 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.867C> T (p.Thr289=) single nucleotide variant Benign/Likely benign rs2230407 GRCh37 Chromosome 17, 39923673: 39923673
4 JUP NM_002230.2(JUP): c.867C> T (p.Thr289=) single nucleotide variant Benign/Likely benign rs2230407 GRCh38 Chromosome 17, 41767421: 41767421
5 JUP NM_002230.2(JUP): c.909+6C> T single nucleotide variant Conflicting interpretations of pathogenicity rs193922705 GRCh37 Chromosome 17, 39923625: 39923625
6 JUP NM_002230.2(JUP): c.909+6C> T single nucleotide variant Conflicting interpretations of pathogenicity rs193922705 GRCh38 Chromosome 17, 41767373: 41767373
7 JUP NM_002230.2(JUP): c.1224C> T (p.Leu408=) single nucleotide variant Benign/Likely benign rs2230408 GRCh37 Chromosome 17, 39919508: 39919508
8 JUP NM_002230.2(JUP): c.1224C> T (p.Leu408=) single nucleotide variant Benign/Likely benign rs2230408 GRCh38 Chromosome 17, 41763256: 41763256
9 JUP NM_002230.2(JUP): c.1331G> A (p.Arg444His) single nucleotide variant Uncertain significance rs369507567 GRCh37 Chromosome 17, 39919401: 39919401
10 JUP NM_002230.2(JUP): c.1331G> A (p.Arg444His) single nucleotide variant Uncertain significance rs369507567 GRCh38 Chromosome 17, 41763149: 41763149
11 JUP NM_002230.2(JUP): c.1377G> T (p.Leu459=) single nucleotide variant Conflicting interpretations of pathogenicity rs147370522 GRCh37 Chromosome 17, 39919355: 39919355
12 JUP NM_002230.2(JUP): c.1377G> T (p.Leu459=) single nucleotide variant Conflicting interpretations of pathogenicity rs147370522 GRCh38 Chromosome 17, 41763103: 41763103
13 JUP NM_002230.2(JUP): c.1379G> A (p.Arg460His) single nucleotide variant Uncertain significance rs397517296 GRCh37 Chromosome 17, 39919353: 39919353
14 JUP NM_002230.2(JUP): c.1379G> A (p.Arg460His) single nucleotide variant Uncertain significance rs397517296 GRCh38 Chromosome 17, 41763101: 41763101
15 JUP NM_002230.2(JUP): c.1563A> G (p.Ala521=) single nucleotide variant Benign/Likely benign rs149926974 GRCh37 Chromosome 17, 39915057: 39915057
16 JUP NM_002230.2(JUP): c.1563A> G (p.Ala521=) single nucleotide variant Benign/Likely benign rs149926974 GRCh38 Chromosome 17, 41758805: 41758805
17 JUP NM_021991.2(JUP): c.1653+10C> A single nucleotide variant Benign/Likely benign rs73983658 GRCh37 Chromosome 17, 39914957: 39914957
18 JUP NM_021991.2(JUP): c.1653+10C> A single nucleotide variant Benign/Likely benign rs73983658 GRCh38 Chromosome 17, 41758705: 41758705
19 JUP NM_002230.2(JUP): c.1942G> A (p.Val648Ile) single nucleotide variant Benign/Likely benign rs143043662 GRCh37 Chromosome 17, 39913771: 39913771
20 JUP NM_002230.2(JUP): c.1942G> A (p.Val648Ile) single nucleotide variant Benign/Likely benign rs143043662 GRCh38 Chromosome 17, 41757519: 41757519
21 JUP NM_002230.2(JUP): c.2059A> G (p.Ile687Val) single nucleotide variant Benign/Likely benign rs138366708 GRCh37 Chromosome 17, 39912454: 39912454
22 JUP NM_002230.2(JUP): c.2059A> G (p.Ile687Val) single nucleotide variant Benign/Likely benign rs138366708 GRCh38 Chromosome 17, 41756202: 41756202
23 JUP NM_002230.2(JUP): c.2178C> T (p.Ile726=) single nucleotide variant Benign/Likely benign rs141295561 GRCh37 Chromosome 17, 39912056: 39912056
24 JUP NM_002230.2(JUP): c.2178C> T (p.Ile726=) single nucleotide variant Benign/Likely benign rs141295561 GRCh38 Chromosome 17, 41755804: 41755804
25 JUP NM_002230.2(JUP): c.2207C> T (p.Pro736Leu) single nucleotide variant Uncertain significance rs151178348 GRCh37 Chromosome 17, 39912027: 39912027
26 JUP NM_002230.2(JUP): c.2207C> T (p.Pro736Leu) single nucleotide variant Uncertain significance rs151178348 GRCh38 Chromosome 17, 41755775: 41755775
27 JUP NM_002230.2(JUP): c.297G> A (p.Ser99=) single nucleotide variant Benign/Likely benign rs200976464 GRCh37 Chromosome 17, 39925841: 39925841
28 JUP NM_002230.2(JUP): c.297G> A (p.Ser99=) single nucleotide variant Benign/Likely benign rs200976464 GRCh38 Chromosome 17, 41769589: 41769589
29 JUP NM_002230.2(JUP): c.405C> T (p.Asp135=) single nucleotide variant Benign/Likely benign rs17850807 GRCh37 Chromosome 17, 39925733: 39925733
30 JUP NM_002230.2(JUP): c.405C> T (p.Asp135=) single nucleotide variant Benign/Likely benign rs17850807 GRCh38 Chromosome 17, 41769481: 41769481
31 JUP NM_002230.2(JUP): c.425G> A (p.Arg142His) single nucleotide variant Benign/Likely benign rs41283425 GRCh37 Chromosome 17, 39925713: 39925713
32 JUP NM_002230.2(JUP): c.425G> A (p.Arg142His) single nucleotide variant Benign/Likely benign rs41283425 GRCh38 Chromosome 17, 41769461: 41769461
33 JUP NM_002230.2(JUP): c.486G> A (p.Ala162=) single nucleotide variant Benign/Likely benign rs113317262 GRCh37 Chromosome 17, 39925442: 39925442
34 JUP NM_002230.2(JUP): c.486G> A (p.Ala162=) single nucleotide variant Benign/Likely benign rs113317262 GRCh38 Chromosome 17, 41769190: 41769190
35 JUP NM_002230.2(JUP): c.567C> T (p.Val189=) single nucleotide variant Benign/Likely benign rs35297577 GRCh37 Chromosome 17, 39925361: 39925361
36 JUP NM_002230.2(JUP): c.567C> T (p.Val189=) single nucleotide variant Benign/Likely benign rs35297577 GRCh38 Chromosome 17, 41769109: 41769109
37 JUP NM_002230.2(JUP): c.708-4C> G single nucleotide variant Conflicting interpretations of pathogenicity rs201313464 GRCh37 Chromosome 17, 39923836: 39923836
38 JUP NM_002230.2(JUP): c.708-4C> G single nucleotide variant Conflicting interpretations of pathogenicity rs201313464 GRCh38 Chromosome 17, 41767584: 41767584
39 JUP NM_002230.2(JUP): c.777C> T (p.Gly259=) single nucleotide variant Benign rs34890640 GRCh37 Chromosome 17, 39923763: 39923763
40 JUP NM_002230.2(JUP): c.777C> T (p.Gly259=) single nucleotide variant Benign rs34890640 GRCh38 Chromosome 17, 41767511: 41767511
41 JUP NM_002230.2(JUP): c.1281G> A (p.Thr427=) single nucleotide variant Benign/Likely benign rs373544304 GRCh37 Chromosome 17, 39919451: 39919451
42 JUP NM_002230.2(JUP): c.1281G> A (p.Thr427=) single nucleotide variant Benign/Likely benign rs373544304 GRCh38 Chromosome 17, 41763199: 41763199
43 JUP NM_002230.2(JUP): c.2025T> C (p.His675=) single nucleotide variant Benign rs140670556 GRCh38 Chromosome 17, 41757436: 41757436
44 JUP NM_002230.2(JUP): c.2025T> C (p.His675=) single nucleotide variant Benign rs140670556 GRCh37 Chromosome 17, 39913688: 39913688
45 JUP NM_002230.2(JUP): c.2031G> A (p.Pro677=) single nucleotide variant Benign/Likely benign rs188888662 GRCh37 Chromosome 17, 39913682: 39913682
46 JUP NM_002230.2(JUP): c.2031G> A (p.Pro677=) single nucleotide variant Benign/Likely benign rs188888662 GRCh38 Chromosome 17, 41757430: 41757430
47 JUP NM_002230.2(JUP): c.1035G> C (p.Lys345Asn) single nucleotide variant Uncertain significance rs150194093 GRCh37 Chromosome 17, 39921194: 39921194
48 JUP NM_002230.2(JUP): c.1035G> C (p.Lys345Asn) single nucleotide variant Uncertain significance rs150194093 GRCh38 Chromosome 17, 41764942: 41764942
49 JUP NM_002230.2(JUP): c.2069A> G (p.Asn690Ser) single nucleotide variant Uncertain significance rs147628503 GRCh37 Chromosome 17, 39912444: 39912444
50 JUP NM_002230.2(JUP): c.2069A> G (p.Asn690Ser) single nucleotide variant Uncertain significance rs147628503 GRCh38 Chromosome 17, 41756192: 41756192

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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