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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Cardiomegaly (D006332)
Parent Node: Cardiomyopathies (D009202)
..Starting node ..Cardiomyopathy, Dilated (D002311)
Child Nodes:
........3-Methylglutaconic Aciduria, Type V (C565706)
........Cardiomyopathy, Dilated, 1AA (C567407)
........Cardiomyopathy, Dilated, 1BB (C567877)
........Cardiomyopathy, Dilated, 1C (C563307)
........Cardiomyopathy, Dilated, 1CC (C567733)
........Cardiomyopathy, Dilated, 1D (C563306)
........Cardiomyopathy, Dilated, 1DD (C567725)
........Cardiomyopathy, Dilated, 1E (C563384)
........Cardiomyopathy, Dilated, 1EE (C567683)
........Cardiomyopathy, Dilated, 1FF (C567654)
........Cardiomyopathy, Dilated, 1g (C565824)
........Cardiomyopathy, Dilated, 1i (C565752)
........Cardiomyopathy, Dilated, 1J (C565337)
........Cardiomyopathy, Dilated, 1K (C565320)
........Cardiomyopathy, Dilated, 1l (C564679)
........Cardiomyopathy, Dilated, 1M (C564390)
........Cardiomyopathy, Dilated, 1N (C564388)
........Cardiomyopathy, Dilated, 1o (C563906)
........Cardiomyopathy, Dilated, 1p (C563690)
........Cardiomyopathy, Dilated, 1q (C563688)
........Cardiomyopathy, Dilated, 1s (C563538)
........Cardiomyopathy, Dilated, 1t (C566052)
........Cardiomyopathy, Dilated, 1u (C566296)
........Cardiomyopathy, Dilated, 1V (C566856)
........Cardiomyopathy, Dilated, 1w (C566954)
........Cardiomyopathy, Dilated, 1x (C566907)
........Cardiomyopathy, Dilated, 1y (C567507)
........Cardiomyopathy, Dilated, 1z (C567506)
........Cardiomyopathy, Dilated, 2a (C567505)
........Cardiomyopathy, Dilated, 3A (C564721)
........CARDIOMYOPATHY, DILATED, 3B (OMIM:302045)
........Cardiomyopathy, Dilated, with Left Ventricular Noncompaction (C565277)
........Cardiomyopathy, Right Ventricular Dilated (C566255)
........Dmd-Associated Dilated Cardiomyopathy (C580047)
........Familial dilated cardiomyopathy (C536231)
........Idiopathic dilation cardiomyopathy (C536277)
........Krasnow Qazi syndrome (C537616)
........Malouf syndrome (C535703)
........Uhl anomaly (C536932)
........Winship Viljoen Leary syndrome (C536711)
Sister Nodes:
..Alpha-B Crystallinopathy (C563848)
..Arrhythmogenic Right Ventricular Dysplasia (D019571) 13
..Ataxia, Deafness, and Cardiomyopathy (C565932)
..Atrial Standstill (C563984)
..Cardiac Lipidosis, Familial (C565884)
..Cardiomyopathy Associated With Myopathy And Sudden Death (C565881)
..Cardiomyopathy dilated with Woolly hair and keratoderma (C535581)
..Cardiomyopathy hypogonadism collagenoma syndrome (C535582)
..Cardiomyopathy, Alcoholic (D002310)
..Cardiomyopathy, Dilated (D002311) 40
..Cardiomyopathy, fatal fetal, due to myocardial calcification (C543241)
..Cardiomyopathy, Hypertrophic (D002312) 20
..Cardiomyopathy, infantile histiocytoid (C535584)
..Cardiomyopathy, Restrictive (D002313) 3
..Cardioneuromyopathy with Hyaline Masses and Nemaline Rods (C564655)
..Cataract and cardiomyopathy (C538280)
..Chagas Cardiomyopathy (D002598)
..Diabetic Cardiomyopathies (D058065)
..Encephalopathy, Axonal, with Necrotizing Myopathy, Cardiomyopathy, and Cataracts (C565596)
..Endocardial Fibroelastosis (D004695) 9
..Endomyocardial Fibrosis (D004719)
..Glycogen Storage Disease Type IIb (D052120)
..Hypertaurinuric Cardiomyopathy (C564157)
..Kearns-Sayre Syndrome (D007625) 1
..Keshan disease (C536166)
..Muscular Dystrophy, Cardiac Type (C563247)
..Myocardial Reperfusion Injury (D015428)
..Myocarditis (D009205)
..Myopathy, Early-Onset, with Fatal Cardiomyopathy (C567129)
..Myopathy, Myofibrillar, Desmin-Related (C563319)
..Najjar syndrome (C535580)
..Roifman syndrome (C535866)
..Sarcoglycanopathies (D058088) 3
..Systemic carnitine deficiency (C536778)
..Trifunctional Protein Deficiency With Myopathy And Neuropathy (C566945)
..Uruguay Faciocardiomusculoskeletal Syndrome (C564544)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

1707

Name:

Cardiomyopathy, Dilated

Definition:

A form of CARDIAC MUSCLE disease that is characterized by ventricular dilation, VENTRICULAR DYSFUNCTION, and HEART FAILURE. Risk factors include SMOKING; ALCOHOL DRINKING; HYPERTENSION; INFECTION; PREGNANCY; and mutations in the LMNA gene encoding LAMIN TYPE A, a NUCLEAR LAMINA protein.

Alternative IDs:

OMIM:115200|OMIM:613424|OMIM:613642

ParentIDs:

MESH:D006332|MESH:D009202

TreeNumbers:

C14.280.195.160 |C14.280.238.070

Synonyms:

Slim Mappings:

Cardiovascular disease

Reference:

MedGen: D002311
MeSH: D002311
OMIM: 115200;

Genes: ACTC1; LMNA; SDHA;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0005110	Atrial fibrillation
3	HP:0004749	Atrial flutter
4	HP:0001635	Congestive heart failure
5	HP:0001644	Dilated cardiomyopathy
6	HP:0001698	Pericardial effusion
7	HP:0004308	Ventricular arrhythmia

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_170707.3(LMNA):c.29C>T (p.Thr10Ile)	4000	LMNA	Pathogenic	57077886	RCV000015599; RCV000057387;	N	MedGen:C1449563,OMIM:115200,ORPHA:300751; MedGen:CN221809	1	156084738	156084738	NM_170707.3:c.29C>T	NP_733821.1:p.Thr10Ile	NC_000001.10:g.156084738C>T	OMIM Allelic Variant:150330.0029	C1449563 115200 Dilated cardiomyopathy 1A; C0221018 300751 Hereditary sideroblastic anemia; CN221809 not provided
NM_170707.3(LMNA):c.178C>G (p.Arg60Gly)	4000	LMNA	Pathogenic	28928900	RCV000015566; RCV000015567; RCV000057359;	N	MedGen:C1449563,OMIM:115200,ORPHA:300751; MedGen:C1720860,OMIM:151660,ORPHA:2348; MedGen:CN221809	1	156084887	156084887	NM_170707.3:c.178C>G	NP_733821.1:p.Arg60Gly	NC_000001.10:g.156084887C>G,NC_000001.10:g.156084887C>T	OMIM Allelic Variant:150330.0005	C1449563 115200 Dilated cardiomyopathy 1A; C1720860 151660 Familial partial lipodystrophy 2; C0221018 300751 Hereditary sideroblastic anemia; CN221809 not provided
NM_170707.3(LMNA):c.254T>G (p.Leu85Arg)	4000	LMNA	Pathogenic	28933090	RCV000015568; RCV000057381;	N	MedGen:C1449563,OMIM:115200,ORPHA:300751; MedGen:CN221809	1	156084963	156084963	NM_170707.3:c.254T>G	NP_733821.1:p.Leu85Arg	NC_000001.10:g.156084963T>G	OMIM Allelic Variant:150330.0006	C1449563 115200 Dilated cardiomyopathy 1A; C0221018 300751 Hereditary sideroblastic anemia; CN221809 not provided
NM_170707.3(LMNA):c.481G>A (p.Glu161Lys)	4000	LMNA	Pathogenic	28933093	RCV000211788; RCV000015598; RCV000057409;	N	MedGen:C0007193,ORPHA:217604,SNOMED CT:195021004; MedGen:C1449563,OMIM:115200,ORPHA:300751; MedGen:CN221809	1	156100532	156100532	NM_170707.3:c.481G>A	NP_733821.1:p.Glu161Lys	NC_000001.10:g.156100532G>A	OMIM Allelic Variant:150330.0028	C1449563 115200 Dilated cardiomyopathy 1A; C0221018 300751 Hereditary sideroblastic anemia; CN221809 not provided; C0007193 Primary dilated cardiomyopathy
NM_170707.3(LMNA):c.568C>T (p.Arg190Trp)	4000	LMNA	Pathogenic	59026483	RCV000177232; RCV000057419;	N	MedGen:C1449563,OMIM:115200,ORPHA:300751; MedGen:CN221809	1	156104248	156104248	NM_170707.3:c.568C>T	NP_733821.1:p.Arg190Trp	NC_000001.10:g.156104248C>T	-	C1449563 115200 Dilated cardiomyopathy 1A; C0221018 300751 Hereditary sideroblastic anemia; CN221809 not provided
NM_170707.3(LMNA):c.585C>G (p.Asn195Lys)	4000	LMNA	Pathogenic	28933091	RCV000211789; RCV000015572; RCV000057425;	N	MedGen:C0007193,ORPHA:217604,SNOMED CT:195021004; MedGen:C1449563,OMIM:115200,ORPHA:300751; MedGen:CN221809	1	156104265	156104265	NM_170707.3:c.585C>G	NP_733821.1:p.Asn195Lys	NC_000001.10:g.156104265C>A,NC_000001.10:g.156104265C>G	OMIM Allelic Variant:150330.0007	C1449563 115200 Dilated cardiomyopathy 1A; C0221018 300751 Hereditary sideroblastic anemia; CN221809 not provided; C0007193 Primary dilated cardiomyopathy
NM_170707.3(LMNA):c.607G>A (p.Glu203Lys)	4000	LMNA	Pathogenic	61195471	RCV000211790; RCV000055999; RCV000057427;	N	MedGen:C0007193,ORPHA:217604,SNOMED CT:195021004; MedGen:C1449563,OMIM:115200,ORPHA:300751; MedGen:CN221809	1	156104287	156104287	NM_170707.3:c.607G>A	NP_733821.1:p.Glu203Lys	NC_000001.10:g.156104287G>A	-	C1449563 115200 Dilated cardiomyopathy 1A; C0221018 300751 Hereditary sideroblastic anemia; CN221809 not provided; C0007193 Primary dilated cardiomyopathy
NM_170707.3(LMNA):c.608A>G (p.Glu203Gly)	4000	LMNA	Pathogenic	28933092	RCV000211791; RCV000015573; RCV000057428;	N	MedGen:C0007193,ORPHA:217604,SNOMED CT:195021004; MedGen:C1449563,OMIM:115200,ORPHA:300751; MedGen:CN221809	1	156104288	156104288	NM_170707.3:c.608A>G	NP_733821.1:p.Glu203Gly	NC_000001.10:g.156104288A>G,NC_000001.10:g.156104288A>T	OMIM Allelic Variant:150330.0008	C1449563 115200 Dilated cardiomyopathy 1A; C0221018 300751 Hereditary sideroblastic anemia; CN221809 not provided; C0007193 Primary dilated cardiomyopathy
NM_170707.3(LMNA):c.644T>C (p.Leu215Pro)	4000	LMNA	Pathogenic	61295588	RCV000056000; RCV000057438;	N	MedGen:C1449563,OMIM:115200,ORPHA:300751; MedGen:CN221809	1	156104600	156104600	NM_170707.3:c.644T>C	NP_733821.1:p.Leu215Pro	NC_000001.10:g.156104600T>C	-	C1449563 115200 Dilated cardiomyopathy 1A; C0221018 300751 Hereditary sideroblastic anemia; CN221809 not provided
NM_005572.3(LMNA):c.673C>T (p.Arg225Ter)	4000	LMNA	Pathogenic	60682848	RCV000211792; RCV000056001; RCV000194831; RCV000057442;	N	MedGen:C0007193,ORPHA:217604,SNOMED CT:195021004; MedGen:C1449563,OMIM:115200,ORPHA:300751; MedGen:C1834653,OMIM:159001,ORPHA:264; MedGen:CN221809	1	156104629	156104629	NM_005572.3:c.673C>T	NP_005563.1:p.Arg225Ter	NC_000001.10:g.156104629C>T	-	C1449563 115200 Dilated cardiomyopathy 1A; C0221018 300751 Hereditary sideroblastic anemia; C1834653 159001 Limb-girdle muscular dystrophy, type 1B; CN221809 not provided; C0007193 Primary dilated cardiomyopathy
NM_005572.3(LMNA):c.959delT (p.Arg321Glufs)	4000	LMNA	Pathogenic	56771886	RCV000015582; RCV000015581; RCV000057492;	N	MedGen:C0410190,OMIM:181350,ORPHA:98853,SNOMED CT:240072005; MedGen:C1449563,OMIM:115200,ORPHA:300751; MedGen:CN221809	1	156105714	156105714	NM_170707.3:c.959delT	NP_733821.1:p.Arg321Glufs	NC_000001.10:g.156105714delT	OMIM Allelic Variant:150330.0013	C0410190 181350 Benign scapuloperoneal muscular dystrophy with cardiomyopathy; C1449563 115200 Dilated cardiomyopathy 1A; C0221018 300751 Hereditary sideroblastic anemia; CN221809 not provided
NM_170707.3(LMNA):c.1130G>A (p.Arg377His)	4000	LMNA	Pathogenic	61672878	RCV000015587; RCV000015586; RCV000057235;	N	MedGen:C1449563,OMIM:115200,ORPHA:300751; MedGen:C1834653,OMIM:159001,ORPHA:264; MedGen:CN221809	1	156105885	156105885	NM_170707.3:c.1130G>A	NP_733821.1:p.Arg377His	NC_000001.10:g.156105885G>A,NC_000001.10:g.156105885G>T	OMIM Allelic Variant:150330.0017	C1449563 115200 Dilated cardiomyopathy 1A; C0221018 300751 Hereditary sideroblastic anemia; C1834653 159001 Limb-girdle muscular dystrophy, type 1B; CN221809 not provided
NM_170707.3(LMNA):c.1412G>A (p.Arg471His)	4000	LMNA	Likely pathogenic;Pathogenic	267607578	RCV000030148; RCV000154177; RCV000057294;	N	MedGen:C0007193,ORPHA:217604,SNOMED CT:195021004; MedGen:C1449563,OMIM:115200,ORPHA:300751; MedGen:CN221809	1	156106743	156106743	NM_170707.3:c.1412G>A	NP_733821.1:p.Arg471His	NC_000001.10:g.156106743G>A	-	C1449563 115200 Dilated cardiomyopathy 1A; C0221018 300751 Hereditary sideroblastic anemia; CN221809 not provided; C0007193 Primary dilated cardiomyopathy
NM_170707.3(LMNA):c.1621C>G (p.Arg541Gly)	4000	LMNA	Pathogenic	56984562	RCV000022641; RCV000057342;	N	MedGen:C1449563,OMIM:115200,ORPHA:300751; MedGen:CN221809	1	156107457	156107457	NM_170707.3:c.1621C>G	NP_733821.1:p.Arg541Gly	NC_000001.10:g.156107457C>A,NC_000001.10:g.156107457C>G,NC_000001.10:g.156107457	OMIM Allelic Variant:150330.0053	C1449563 115200 Dilated cardiomyopathy 1A; C0221018 300751 Hereditary sideroblastic anemia; CN221809 not provided
NM_170707.3(LMNA):c.1621C>T (p.Arg541Cys)	4000	LMNA	Pathogenic	56984562	RCV000211786; RCV000041325; RCV000057343;	N	MedGen:C0007193,ORPHA:217604,SNOMED CT:195021004; MedGen:C1449563,OMIM:115200,ORPHA:300751; MedGen:CN221809	1	156107457	156107457	NM_170707.3:c.1621C>T	NP_733821.1:p.Arg541Cys	NC_000001.10:g.156107457C>A,NC_000001.10:g.156107457C>G,NC_000001.10:g.156107457	-	C1449563 115200 Dilated cardiomyopathy 1A; C0221018 300751 Hereditary sideroblastic anemia; CN221809 not provided; C0007193 Primary dilated cardiomyopathy
NM_005572.3(LMNA):c.1711C>A (p.Arg571Ser)	4000	LMNA	Pathogenic	80338938	RCV000015574; RCV000057044;	N	MedGen:C1449563,OMIM:115200,ORPHA:300751; MedGen:CN221809	1	156107547	156107547	NM_005572.3:c.1711C>A	NP_005563.1:p.Arg571Ser	NC_000001.10:g.156107547C>A,NC_000001.10:g.156107547C>T	OMIM Allelic Variant:150330.0009	C1449563 115200 Dilated cardiomyopathy 1A; C0221018 300751 Hereditary sideroblastic anemia; CN221809 not provided
NM_170707.3(LMNA):c.1718C>T (p.Ser573Leu)	4000	LMNA	Pathogenic;Uncertain significance	60890628	RCV000015612; RCV000015614; RCV000015613; RCV000057351; RCV000041329;	N	MedGen:C1449563,OMIM:115200,ORPHA:300751; MedGen:C1720860,OMIM:151660,ORPHA:2348; MedGen:CN043412; MedGen:CN169374; MedGen:CN221809	1	156108298	156108298	NM_170707.3:c.1718C>T	NP_733821.1:p.Ser573Leu	NC_000001.10:g.156108298C>T	OMIM Allelic Variant:150330.0041	C1449563 115200 Dilated cardiomyopathy 1A; C1720860 151660 Familial partial lipodystrophy 2; C0221018 300751 Hereditary sideroblastic anemia; CN043412 Mandibuloacral dysplasia with type A lipodystrophy, atypical; CN221809 not provided; CN169374 not sp
NM_000256.3(MYBPC3):c.2414-1G>A	4607	MYBPC3	Likely pathogenic	863224899	RCV000200036;	N	MedGen:C1449563,OMIM:115200,ORPHA:300751; MedGen:C1861862,OMIM:115197	11	47359131	47359131	NM_000256.3:c.2414-1G>A		NC_000011.9:g.47359131C>T	-	C1449563 115200 Dilated cardiomyopathy 1A; C1861862 115197 Familial hypertrophic cardiomyopathy 4; C0221018 300751 Hereditary sideroblastic anemia
NM_000256.3(MYBPC3):c.604A>C (p.Lys202Gln)	4607	MYBPC3	Likely pathogenic;Uncertain significance	730880623	RCV000203144; RCV000158297; RCV000221441;	N	MedGen:C1449563,OMIM:115200,ORPHA:300751; MedGen:CN169374; MedGen:CN221809	11	47371375	47371375	NM_000256.3:c.604A>C	NP_000247.2:p.Lys202Gln	NC_000011.9:g.47371375T>G	-	C1449563 115200 Dilated cardiomyopathy 1A; C0221018 300751 Hereditary sideroblastic anemia; CN221809 not provided; CN169374 not specified
NM_000256.3(MYBPC3):c.478C>T (p.Arg160Trp)	4607	MYBPC3	Likely benign;Likely pathogenic;Uncertain significance	193068692	RCV000148685; RCV000202872; RCV000151168; RCV000167985;	N	Human Phenotype Ontology:HP:0001639,MedGen:C0007194, Orphanet:ORPHA217569; MedGen:C0949658, Orphanet:ORPHA155, Orphanet:ORPHA99739,SNOMED CT:83978005; MedGen:C1449563,OMIM:115200,ORPHA:300751; MedGen:CN169374	11	47371592	47371592	NM_000256.3:c.478C>T	NP_000247.2:p.Arg160Trp	NC_000011.9:g.47371592G>A	-	C1449563 115200 Dilated cardiomyopathy 1A; C0221018 300751 Hereditary sideroblastic anemia; C0007194 Hypertrophic cardiomyopathy; CN169374 not specified; C0949658 Primary familial hypertrophic cardiomyopathy