MCID: CRD155
MIFTS: 23

Cardiomyopathy, Dilated, 1kk

Categories: Genetic diseases, Cardiovascular diseases, Rare diseases, Neuronal diseases, Ear diseases

Aliases & Classifications for Cardiomyopathy, Dilated, 1kk

MalaCards integrated aliases for Cardiomyopathy, Dilated, 1kk:

Name: Cardiomyopathy, Dilated, 1kk 57 13 73
Cardiomyopathy, Familial Restrictive, 4 57 6 73
Dilated Cardiomyopathy 1kk 12 29 6
Cmd1kk 57 12 75
Cardiomyopathy, Familial Hypertrophic, 22 73
Cardiomyopathy, Familial Hypertrophic 22 75
Familial Hypertrophic Cardiomyopathy 22 6
Cardiomyopathy, Familial Restrictive 4 75
Cardiomyopathy, Hypertrophic, 22 57
Cardiomyopathy, Dilated 1kk 75
Cmh22 75
Rcm4 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
some patients exhibit features of more than 1 type of cardiomyopathy
patients often require cardiac transplantation


HPO:

32
cardiomyopathy, dilated, 1kk:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Cardiomyopathy, Dilated, 1kk

UniProtKB/Swiss-Prot : 75 Cardiomyopathy, dilated 1KK: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. Cardiomyopathy, familial hypertrophic 22: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. Cardiomyopathy, familial restrictive 4: A heart disorder characterized by impaired filling of the ventricles with reduced diastolic volume, in the presence of normal or near normal wall thickness and systolic function.

MalaCards based summary : Cardiomyopathy, Dilated, 1kk, is also known as cardiomyopathy, familial restrictive, 4. An important gene associated with Cardiomyopathy, Dilated, 1kk is MYPN (Myopalladin). Affiliated tissues include heart, and related phenotypes are hypertrophic cardiomyopathy and congestive heart failure

Disease Ontology : 12 A dilated cardiomyopathy that has material basis in mutation in the MYPN gene on chromosome 10q21.

Description from OMIM: 615248

Symptoms & Phenotypes for Cardiomyopathy, Dilated, 1kk

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
cardiomyopathy, dilated (in some patients)
cardiomyopathy, hypertrophic (in some patients)
cardiomyopathy, restrictive (in some patients)
congestive heart failure (in some patients)
left ventricular hypertrophy (in some patients)
more

Clinical features from OMIM:

615248

Human phenotypes related to Cardiomyopathy, Dilated, 1kk:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 hypertrophic cardiomyopathy 32 occasional (7.5%) HP:0001639
2 congestive heart failure 32 occasional (7.5%) HP:0001635
3 mitral regurgitation 32 occasional (7.5%) HP:0001653
4 left ventricular hypertrophy 32 occasional (7.5%) HP:0001712
5 dilated cardiomyopathy 32 occasional (7.5%) HP:0001644
6 atrial fibrillation 32 occasional (7.5%) HP:0005110

Drugs & Therapeutics for Cardiomyopathy, Dilated, 1kk

Search Clinical Trials , NIH Clinical Center for Cardiomyopathy, Dilated, 1kk

Genetic Tests for Cardiomyopathy, Dilated, 1kk

Genetic tests related to Cardiomyopathy, Dilated, 1kk:

# Genetic test Affiliating Genes
1 Dilated Cardiomyopathy 1kk 29 MYPN

Anatomical Context for Cardiomyopathy, Dilated, 1kk

MalaCards organs/tissues related to Cardiomyopathy, Dilated, 1kk:

41
Heart

Publications for Cardiomyopathy, Dilated, 1kk

Variations for Cardiomyopathy, Dilated, 1kk

UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Dilated, 1kk:

75 (show all 15)
# Symbol AA change Variation ID SNP ID
1 MYPN p.Tyr20Cys VAR_069642 rs140148105
2 MYPN p.Lys153Arg VAR_069643 rs199476401
3 MYPN p.Ile213Val VAR_069644 rs199476402
4 MYPN p.Ala217Glu VAR_069645 rs199476403
5 MYPN p.Tyr339Phe VAR_069646 rs199476404
6 MYPN p.Val410Ala VAR_069647 rs199476406
7 MYPN p.Ala611Thr VAR_069649 rs199476409
8 MYPN p.Pro841Thr VAR_069652 rs199476410
9 MYPN p.Ala882Thr VAR_069653 rs199476411
10 MYPN p.Phe954Leu VAR_069654 rs199476413
11 MYPN p.Pro961Leu VAR_069657 rs864621995
12 MYPN p.Arg1088His VAR_069658 rs71584501
13 MYPN p.Pro1112Leu VAR_069659 rs71534278
14 MYPN p.Val1195Met VAR_069661 rs71534280
15 MYPN p.Ala1265Pro VAR_069662 rs199476416

ClinVar genetic disease variations for Cardiomyopathy, Dilated, 1kk:

6
(show top 50) (show all 280)
# Gene Variation Type Significance SNP ID Assembly Location
1 MYPN NM_032578.3(MYPN): c.458A> G (p.Lys153Arg) single nucleotide variant Likely pathogenic rs199476401 GRCh37 Chromosome 10, 69881653: 69881653
2 MYPN NM_032578.3(MYPN): c.458A> G (p.Lys153Arg) single nucleotide variant Likely pathogenic rs199476401 GRCh38 Chromosome 10, 68121896: 68121896
3 MYPN NM_032578.3(MYPN): c.1585C> T (p.Gln529Ter) single nucleotide variant Pathogenic rs199476408 GRCh37 Chromosome 10, 69925560: 69925560
4 MYPN NM_032578.3(MYPN): c.1585C> T (p.Gln529Ter) single nucleotide variant Pathogenic rs199476408 GRCh38 Chromosome 10, 68165803: 68165803
5 MYPN NM_001256267.1(MYPN): c.3124C> T (p.Arg1042Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs151282801 GRCh37 Chromosome 10, 69955255: 69955255
6 MYPN NM_001256267.1(MYPN): c.3124C> T (p.Arg1042Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs151282801 GRCh38 Chromosome 10, 68195498: 68195498
7 MYPN NM_001256267.1(MYPN): c.3886T> A (p.Ser1296Thr) single nucleotide variant Likely benign rs199585352 GRCh38 Chromosome 10, 68210378: 68210378
8 MYPN NM_001256267.1(MYPN): c.3886T> A (p.Ser1296Thr) single nucleotide variant Likely benign rs199585352 GRCh37 Chromosome 10, 69970135: 69970135
9 MYPN NM_001256267.1(MYPN): c.3913A> G (p.Met1305Val) single nucleotide variant Uncertain significance rs730880170 GRCh38 Chromosome 10, 68210405: 68210405
10 MYPN NM_001256267.1(MYPN): c.3913A> G (p.Met1305Val) single nucleotide variant Uncertain significance rs730880170 GRCh37 Chromosome 10, 69970162: 69970162
11 MYPN NM_032578.3(MYPN): c.392G> T (p.Ser131Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs199853307 GRCh37 Chromosome 10, 69881587: 69881587
12 MYPN NM_032578.3(MYPN): c.392G> T (p.Ser131Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs199853307 GRCh38 Chromosome 10, 68121830: 68121830
13 MYPN NM_032578.3(MYPN): c.662A> T (p.Asp221Val) single nucleotide variant Uncertain significance rs185841477 GRCh37 Chromosome 10, 69881857: 69881857
14 MYPN NM_032578.3(MYPN): c.662A> T (p.Asp221Val) single nucleotide variant Uncertain significance rs185841477 GRCh38 Chromosome 10, 68122100: 68122100
15 MYPN NM_032578.3(MYPN): c.952G> A (p.Val318Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs112518450 GRCh37 Chromosome 10, 69902746: 69902746
16 MYPN NM_032578.3(MYPN): c.952G> A (p.Val318Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs112518450 GRCh38 Chromosome 10, 68142989: 68142989
17 MYPN NM_032578.3(MYPN): c.1130G> A (p.Arg377Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs147596628 GRCh37 Chromosome 10, 69905283: 69905283
18 MYPN NM_032578.3(MYPN): c.1130G> A (p.Arg377Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs147596628 GRCh38 Chromosome 10, 68145526: 68145526
19 MYPN NM_032578.3(MYPN): c.1790G> A (p.Arg597His) single nucleotide variant Conflicting interpretations of pathogenicity rs150911078 GRCh37 Chromosome 10, 69926240: 69926240
20 MYPN NM_032578.3(MYPN): c.1790G> A (p.Arg597His) single nucleotide variant Conflicting interpretations of pathogenicity rs150911078 GRCh38 Chromosome 10, 68166483: 68166483
21 MYPN NM_032578.3(MYPN): c.1858A> G (p.Thr620Ala) single nucleotide variant Uncertain significance rs144031245 GRCh37 Chromosome 10, 69926308: 69926308
22 MYPN NM_032578.3(MYPN): c.1858A> G (p.Thr620Ala) single nucleotide variant Uncertain significance rs144031245 GRCh38 Chromosome 10, 68166551: 68166551
23 MYPN NM_032578.3(MYPN): c.2260A> C (p.Ile754Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs201245117 GRCh37 Chromosome 10, 69934109: 69934109
24 MYPN NM_032578.3(MYPN): c.2260A> C (p.Ile754Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs201245117 GRCh38 Chromosome 10, 68174352: 68174352
25 MYPN NM_032578.3(MYPN): c.2560T> A (p.Ser854Thr) single nucleotide variant Uncertain significance rs200432306 GRCh38 Chromosome 10, 68174652: 68174652
26 MYPN NM_032578.3(MYPN): c.2560T> A (p.Ser854Thr) single nucleotide variant Uncertain significance rs200432306 GRCh37 Chromosome 10, 69934409: 69934409
27 MYPN NM_032578.3(MYPN): c.2756G> A (p.Arg919His) single nucleotide variant Uncertain significance rs193022869 GRCh38 Chromosome 10, 68188957: 68188957
28 MYPN NM_032578.3(MYPN): c.2756G> A (p.Arg919His) single nucleotide variant Uncertain significance rs193022869 GRCh37 Chromosome 10, 69948714: 69948714
29 MYPN NM_032578.3(MYPN): c.2863C> T (p.Arg955Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs149887823 GRCh38 Chromosome 10, 68189064: 68189064
30 MYPN NM_032578.3(MYPN): c.2863C> T (p.Arg955Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs149887823 GRCh37 Chromosome 10, 69948821: 69948821
31 MYPN NM_032578.3(MYPN): c.3421G> A (p.Ala1141Thr) single nucleotide variant Benign rs150404143 GRCh37 Chromosome 10, 69959260: 69959260
32 MYPN NM_032578.3(MYPN): c.3421G> A (p.Ala1141Thr) single nucleotide variant Benign rs150404143 GRCh38 Chromosome 10, 68199503: 68199503
33 MYPN NM_032578.3(MYPN): c.3833G> A (p.Arg1278Gln) single nucleotide variant Uncertain significance rs142877365 GRCh37 Chromosome 10, 69970082: 69970082
34 MYPN NM_032578.3(MYPN): c.3833G> A (p.Arg1278Gln) single nucleotide variant Uncertain significance rs142877365 GRCh38 Chromosome 10, 68210325: 68210325
35 MYPN NM_032578.3(MYPN): c.3846T> A (p.Ser1282Arg) single nucleotide variant Benign/Likely benign rs147659164 GRCh37 Chromosome 10, 69970095: 69970095
36 MYPN NM_032578.3(MYPN): c.3846T> A (p.Ser1282Arg) single nucleotide variant Benign/Likely benign rs147659164 GRCh38 Chromosome 10, 68210338: 68210338
37 MYPN NM_032578.3(MYPN): c.3417C> T (p.Arg1139=) single nucleotide variant Benign/Likely benign rs144488384 GRCh37 Chromosome 10, 69959256: 69959256
38 MYPN NM_032578.3(MYPN): c.3417C> T (p.Arg1139=) single nucleotide variant Benign/Likely benign rs144488384 GRCh38 Chromosome 10, 68199499: 68199499
39 MYPN NM_032578.3(MYPN): c.1293C> A (p.Ile431=) single nucleotide variant Benign/Likely benign rs147184158 GRCh37 Chromosome 10, 69909844: 69909844
40 MYPN NM_032578.3(MYPN): c.1293C> A (p.Ile431=) single nucleotide variant Benign/Likely benign rs147184158 GRCh38 Chromosome 10, 68150087: 68150087
41 MYPN NM_032578.3(MYPN): c.782A> G (p.Tyr261Cys) single nucleotide variant Uncertain significance rs148034353 GRCh37 Chromosome 10, 69881977: 69881977
42 MYPN NM_032578.3(MYPN): c.782A> G (p.Tyr261Cys) single nucleotide variant Uncertain significance rs148034353 GRCh38 Chromosome 10, 68122220: 68122220
43 MYPN NM_032578.3(MYPN): c.845A> G (p.Glu282Gly) single nucleotide variant Uncertain significance rs146336815 GRCh37 Chromosome 10, 69882040: 69882040
44 MYPN NM_032578.3(MYPN): c.845A> G (p.Glu282Gly) single nucleotide variant Uncertain significance rs146336815 GRCh38 Chromosome 10, 68122283: 68122283
45 MYPN NM_032578.3(MYPN): c.1105G> A (p.Asp369Asn) single nucleotide variant Uncertain significance rs764775347 GRCh37 Chromosome 10, 69905258: 69905258
46 MYPN NM_032578.3(MYPN): c.1105G> A (p.Asp369Asn) single nucleotide variant Uncertain significance rs764775347 GRCh38 Chromosome 10, 68145501: 68145501
47 MYPN NM_032578.3(MYPN): c.1246-19G> A single nucleotide variant Benign rs75739924 GRCh37 Chromosome 10, 69909778: 69909778
48 MYPN NM_032578.3(MYPN): c.1246-19G> A single nucleotide variant Benign rs75739924 GRCh38 Chromosome 10, 68150021: 68150021
49 MYPN NM_032578.3(MYPN): c.2228C> T (p.Pro743Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs138583865 GRCh37 Chromosome 10, 69934077: 69934077
50 MYPN NM_032578.3(MYPN): c.2228C> T (p.Pro743Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs138583865 GRCh38 Chromosome 10, 68174320: 68174320

Expression for Cardiomyopathy, Dilated, 1kk

Search GEO for disease gene expression data for Cardiomyopathy, Dilated, 1kk.

Pathways for Cardiomyopathy, Dilated, 1kk

GO Terms for Cardiomyopathy, Dilated, 1kk

Sources for Cardiomyopathy, Dilated, 1kk

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