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	arrhythmogenic right ventricular cardiomyopathy

Disease ID	439
Disease	arrhythmogenic right ventricular cardiomyopathy
Definition	A congenital cardiomyopathy that is characterized by infiltration of adipose and fibrous tissue into the RIGHT VENTRICLE wall and loss of myocardial cells. Primary injuries usually are at the free wall of right ventricular and right atria resulting in ventricular and supraventricular arrhythmias.
Synonym	arrhythmogenic right ventricular cardiomyopathy (disorder) arrhythmogenic right ventricular cardiomyopathy dysplasia arrhythmogenic right ventricular cardiomyopathy-dysplasia arrhythmogenic right ventricular dysplasia arrhythmogenic right ventricular dysplasia (disorder) arrhythmogenic right ventricular dysplasia [disease/finding] arrhythmogenic right ventricular dysplasia-cardiomyopathy arrhythmogenic rvd arrythmogenic right ventricular dysplasia arrythmogenic right ventricular dysplasia (disorder) arvd arvd-c right ventricular dysplasia right ventricular dysplasia, arrhythmogenic ventricular dysplasia, right, arrhythmogenic
Orphanet	ORPHANET:247
DOID	DOID:0050431
UMLS	C0349788
MeSH	D019571
SNOMED-CT	SNOMEDCT_US_2016_09_01:281170005;SNOMEDCT_US_2016_09_01:253528005
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:16) C0006384 \| bundle branch block \| 3 C0085615 \| right bundle branch block \| 3 C0878544 \| cardiomyopathy \| 2 C0026848 \| myopathy \| 2 C0027059 \| myocarditis \| 2 C0002170 \| alopecia \| 1 C0007193 \| dilated cardiomyopathy \| 1 C1561644 \| chronic kidney disease (ckd) \| 1 C0041341 \| tuberous sclerosis \| 1 C0040053 \| thrombosis \| 1 C0022658 \| kidney disease \| 1 C0022661 \| chronic kidney disease \| 1 C0018801 \| heart failure \| 1 C0003467 \| anxiety \| 1 C0036421 \| systemic sclerosis \| 1 C0087086 \| thrombi \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:15) 3728 \| JUP \| GHR;UNIPROT 11155 \| LDB3 \| UNIPROT 9531 \| BAG3 \| CLINVAR 1824 \| DSC2 \| CLINVAR;GHR;UNIPROT 1829 \| DSG2 \| CLINVAR;GHR;UNIPROT 7043 \| TGFB3 \| GHR;UNIPROT 3757 \| KCNH2 \| CLINVAR 4000 \| LMNA \| CLINVAR 6331 \| SCN5A \| CLINVAR 1832 \| DSP \| CLINVAR;GHR;UNIPROT 6262 \| RYR2 \| GHR;UNIPROT 125972 \| CALR3 \| CLINVAR 88 \| ACTN2 \| UNIPROT 5318 \| PKP2 \| CLINVAR;GHR;UNIPROT 79188 \| TMEM43 \| CLINVAR;GHR;UNIPROT
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:6) 1824 \| DSC2 \| CIPHER 1829 \| DSG2 \| CIPHER 1832 \| DSP \| CIPHER 3728 \| JUP \| CIPHER 57546 \| PDP2 \| CIPHER 5318 \| PKP2 \| CIPHER
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:79) 34 \| ACADM \| 2.448 \| DISEASES 87 \| ACTN1 \| 1.675 \| DISEASES 88 \| ACTN2 \| 1.762 \| DISEASES 287 \| ANK2 \| 1.412 \| DISEASES 27063 \| ANKRD1 \| 1.797 \| DISEASES 722 \| C4BPA \| 1.417 \| DISEASES 779 \| CACNA1S \| 1.205 \| DISEASES 23066 \| CAND2 \| 1.453 \| DISEASES 9560 \| CCL4L2 \| 1.014 \| DISEASES 23607 \| CD2AP \| 3.181 \| DISEASES 10659 \| CELF2 \| 1.817 \| DISEASES 1490 \| CTGF \| 1.518 \| DISEASES 29119 \| CTNNA3 \| 3.904 \| DISEASES 1499 \| CTNNB1 \| 2.714 \| DISEASES 57703 \| CWC22 \| 1.084 \| DISEASES 1674 \| DES \| 3.391 \| DISEASES 1756 \| DMD \| 1.829 \| DISEASES 1804 \| DPP6 \| 1.521 \| DISEASES 1825 \| DSC3 \| 5.53 \| DISEASES 147409 \| DSG4 \| 1.363 \| DISEASES 1832 \| DSP \| 6.68 \| DISEASES 143241 \| DYDC1 \| 3.847 \| DISEASES 2010 \| EMD \| 1.502 \| DISEASES 2103 \| ESRRB \| 1.485 \| DISEASES 84293 \| FAM213A \| 2.465 \| DISEASES 2200 \| FBN1 \| 1.129 \| DISEASES 2280 \| FKBP1A \| 1.039 \| DISEASES 2281 \| FKBP1B \| 4.048 \| DISEASES 642489 \| FKBP1C \| 1.135 \| DISEASES 2298 \| FOXD4 \| 2.734 \| DISEASES 55691 \| FRMD4A \| 2.34 \| DISEASES 10052 \| GJC1 \| 2.327 \| DISEASES 259307 \| IL4I1 \| 2.647 \| DISEASES 3664 \| IRF6 \| 3.205 \| DISEASES 145501 \| ISM2 \| 3.214 \| DISEASES 3775 \| KCNK1 \| 1.959 \| DISEASES 11155 \| LDB3 \| 2.541 \| DISEASES 7044 \| LEFTY2 \| 1.606 \| DISEASES 4000 \| LMNA \| 2.556 \| DISEASES 4143 \| MAT1A \| 1.399 \| DISEASES 4205 \| MEF2A \| 1.704 \| DISEASES 4208 \| MEF2C \| 2.344 \| DISEASES 116534 \| MRGPRE \| 1.406 \| DISEASES 4519 \| MT-CYB \| 2.359 \| DISEASES 9788 \| MTSS1 \| 1.184 \| DISEASES 4607 \| MYBPC3 \| 1.586 \| DISEASES 4625 \| MYH7 \| 2.482 \| DISEASES 114803 \| MYSM1 \| 2.111 \| DISEASES 1482 \| NKX2-5 \| 2.343 \| DISEASES 103752588 \| PACERR \| 2.119 \| DISEASES 118425 \| PCAT4 \| 1.306 \| DISEASES 5137 \| PDE1C \| 2.151 \| DISEASES 64065 \| PERP \| 2.336 \| DISEASES 8502 \| PKP4 \| 3.7 \| DISEASES 219348 \| PLAC9 \| 3.601 \| DISEASES 5350 \| PLN \| 2.087 \| DISEASES 282996 \| RBM20 \| 2.127 \| DISEASES 79651 \| RHBDF2 \| 2.02 \| DISEASES 3921 \| RPSA \| 1.152 \| DISEASES 6261 \| RYR1 \| 3.261 \| DISEASES 6262 \| RYR2 \| 5.631 \| DISEASES 6263 \| RYR3 \| 1.644 \| DISEASES 6295 \| SAG \| 1.206 \| DISEASES 6331 \| SCN5A \| 4.245 \| DISEASES 6332 \| SCN7A \| 2.435 \| DISEASES 653509 \| SFTPA1 \| 1.313 \| DISEASES 729238 \| SFTPA2 \| 1.106 \| DISEASES 387694 \| SH2D4B \| 3.847 \| DISEASES 788 \| SLC25A20 \| 1.284 \| DISEASES 6546 \| SLC8A1 \| 1.221 \| DISEASES 80195 \| TMEM254 \| 3.847 \| DISEASES 7137 \| TNNI3 \| 1.862 \| DISEASES 7139 \| TNNT2 \| 1.442 \| DISEASES 81619 \| TSPAN14 \| 3.146 \| DISEASES 7273 \| TTN \| 3.597 \| DISEASES 165904 \| XIRP1 \| 1.864 \| DISEASES 219654 \| ZCCHC24 \| 3.531 \| DISEASES 57178 \| ZMIZ1 \| 1.789 \| DISEASES 100128252 \| ZNF667-AS1 \| 1.558 \| DISEASES
Locus	(Waiting for update.)

Disease ID	439
Disease	arrhythmogenic right ventricular cardiomyopathy
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:24) HP:0011675 \| Arrhythmias \| 19 HP:0004308 \| Ventricular arrhythmia \| 11 HP:0004756 \| Ventricular tachycardia \| 9 HP:0001649 \| Tachycardia \| 7 HP:0001645 \| Sudden cardiac death \| 5 HP:0011710 \| Bundle-branch block \| 3 HP:0011712 \| Right bundle-branch block \| 3 HP:0012819 \| Myocarditis \| 2 HP:0001279 \| Syncope \| 2 HP:0001638 \| Cardiomyopathy \| 2 HP:0003198 \| Myopathic changes \| 2 HP:0001712 \| Left ventricular hypertrophy \| 1 HP:0012622 \| Chronic kidney disease \| 1 HP:0001714 \| Ventricular hypertrophy \| 1 HP:0000739 \| Anxiety \| 1 HP:0001631 \| Atria septal defect \| 1 HP:0001644 \| Congestive cardiomyopathy \| 1 HP:0001708 \| Impaired right ventricular function \| 1 HP:0001635 \| Congestive heart failure \| 1 HP:0001962 \| Palpitations \| 1 HP:0000961 \| Cyanosis \| 1 HP:0001596 \| Hair loss \| 1 HP:0002459 \| Dysautonomia \| 1 HP:0003715 \| Myofibrillar changes \| 1

Disease ID	439
Disease	arrhythmogenic right ventricular cardiomyopathy
Manually Symptom	UMLS \| Name(Total Manually Symptoms:5) C2712322 \| tachycardia C2347963 \| right ventricular outflow tract tachycardia C0264716 \| chronic heart failure C0018801 \| heart failure C0013575 \| ectodermal dysplasia
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:2) C0039231 \| tachycardia \| 6 C0235527 \| right ventricular failure \| 1

Manually Genotype(Total Manually Genotypes:1)
Gene	Mutation	DOI	Article Title
DSP	NM_004415.2:c.269A>G, NP_004406.2:p.Gln90Arg	doi:10.1038/gim.2015.26	Frequency and spectrum of actionable pathogenic secondary findings in 196 Korean exomes

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:35)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs111517471	NA	5318	PKP2	umls:C0349788	CLINVAR	NA	0.163220185	NA	PKP2	12	32796108	C	A,G,T
rs121434421	25857910	5318	PKP2	umls:C0349788	BeFree	The introduction of the PKP2 R735X mutation into mice resulted in an exercise-dependent ARVC phenotype.	0.163220185	2015	PKP2	12	32802499	G	A
rs121912998	NA	1832	DSP	umls:C0349788	CLINVAR	NA	0.141159991	NA	DSP;LOC101928076	6	7542003	G	A
rs121913012	NA	1829	DSG2	umls:C0349788	CLINVAR	NA	0.136992555	NA	DSG2	18	31524865	G	A
rs121913013	NA	1829	DSG2	umls:C0349788	CLINVAR	NA	0.136992555	NA	DSG2	18	31519887	G	A
rs142951029	NA	125972	CALR3	umls:C0349788	CLINVAR	NA	0.12	NA	CALR3	19	16490519	T	C
rs149930872	21378009	5318	PKP2	umls:C0349788	BeFree	The PKP2 heterozygous p.Arg490Trp variant was identified in two unrelated ARVC probands (absent from 470 controls).	0.163220185	2011	PKP2	12	32843224	G	A,T
rs150339369	NA	1832	DSP	umls:C0349788	CLINVAR	NA	0.141159991	NA	DSP	6	7574781	C	T
rs193922639	23071725	6445	SGCG	umls:C0349788	BeFree	In contrast, the variants DSG2-p.K294E and -p.V392I, which have an arguable impact on ARVC pathogenesis and are predicted to be benign, did not show functional differences to the wild-type protein in our study.	0.000271442	2012	DSG2	18	31531146	G	A
rs193922669	NA	1832	DSP	umls:C0349788	CLINVAR	NA	0.141159991	NA	DSP	6	7582817	G	A
rs193922672	NA	5318	PKP2	umls:C0349788	CLINVAR	NA	0.163220185	NA	PKP2	12	32841103	C	T
rs193922673	NA	5318	PKP2	umls:C0349788	CLINVAR	NA	0.163220185	NA	PKP2	12	32821473	C	T
rs193922674	NA	5318	PKP2	umls:C0349788	CLINVAR	NA	0.163220185	NA	PKP2	12	32802557	C	G
rs193922706	NA	79188	TMEM43	umls:C0349788	CLINVAR	NA	0.127262917	NA	TMEM43	3	14141742	C	G,T
rs199473025	NA	3757	KCNH2	umls:C0349788	CLINVAR	NA	0.12	NA	KCNH2	7	150947347	G	A
rs199473068	NA	6331	SCN5A	umls:C0349788	CLINVAR	NA	0.120814326	NA	SCN5A	3	38620886	G	C,A
rs201564919	NA	1829	DSG2	umls:C0349788	CLINVAR	NA	0.136992555	NA	DSG2	18	31541225	G	A
rs267607499	20829228	1674	DES	umls:C0349788	BeFree	De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy.	0.001085767	2010	DES	2	219418809	A	G
rs34738426	NA	1832	DSP	umls:C0349788	CLINVAR	NA	0.141159991	NA	DSP	6	7581514	G	T
rs367752002	NA	1832	DSP	umls:C0349788	CLINVAR	NA	0.141159991	NA	DSP	6	7576347	A	C,G
rs372827156	NA	5318	PKP2	umls:C0349788	CLINVAR	NA	0.163220185	NA	PKP2	12	32850907	G	A
rs374875442	22214898	1829	DSG2	umls:C0349788	BeFree	We identified 3 cases of compound heterozygosities (Case 1: DSG2 S194L and DSG2 R292C; Case 2: PKP2 2489+1G>A and PKP2 D812N; Case 3: PKP2 M565R and PKP2 D812N) and 1 of digenic heterozygosity (Case 4: PKP2 1728_1729insGATG and DSG2 R292C) among the definite ARVC patients.	0.136992555	2012	DSG2	18	31522140	C	T
rs375679311	NA	1829	DSG2	umls:C0349788	CLINVAR	NA	0.136992555	NA	DSG2	18	31536256	A	G
rs377272752	NA	1824	DSC2	umls:C0349788	CLINVAR	NA	0.138088254	NA	DSC2	18	31069032	TCC	-
rs397514506	NA	9531	BAG3	umls:C0349788	CLINVAR	NA	0.12	NA	BAG3	10	119672399	C	T
rs397516994	NA	5318	PKP2	umls:C0349788	CLINVAR	NA	0.163220185	NA	PKP2	12	32850765	C	G
rs397516997	NA	5318	PKP2	umls:C0349788	CLINVAR	NA	0.163220185	NA	PKP2	12	32896581	CTGT	-
rs397517906	NA	4000	LMNA	umls:C0349788	CLINVAR	NA	0.120271442	NA	LMNA	1	156134890	C	T
rs63750743	22458570	79188	TMEM43	umls:C0349788	BeFree	Functional effects of the TMEM43 Ser358Leu mutation in the pathogenesis of arrhythmogenic right ventricular cardiomyopathy.	0.127262917	2012	TMEM43	3	14141665	C	T
rs63750743	22725725	79188	TMEM43	umls:C0349788	BeFree	The natural history of a genetic subtype of arrhythmogenic right ventricular cardiomyopathy caused by a p.S358L mutation in TMEM43.	0.127262917	2012	TMEM43	3	14141665	C	T
rs63750743	25343256	79188	TMEM43	umls:C0349788	BeFree	TMEM43 mutation p.S358L alters intercalated disc protein expression and reduces conduction velocity in arrhythmogenic right ventricular cardiomyopathy.	0.127262917	2014	TMEM43	3	14141665	C	T
rs63750743	NA	79188	TMEM43	umls:C0349788	CLINVAR	NA	0.127262917	NA	TMEM43	3	14141665	C	T
rs730880180	NA	5318	PKP2	umls:C0349788	CLINVAR	NA	0.163220185	NA	PKP2	12	32869018	A	G
rs786205353	NA	5318	PKP2	umls:C0349788	CLINVAR	NA	0.163220185	NA	PKP2	12	32877900	-	C
rs786205360	NA	1824	DSC2	umls:C0349788	CLINVAR	NA	0.138088254	NA	DSC2	18	31069036	CCT	-

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	439
Disease	arrhythmogenic right ventricular cardiomyopathy
Case	(Waiting for update.)