CMD1KK
MCID: CRD155
MIFTS: 23

Cardiomyopathy, Dilated, 1kk (CMD1KK)

Categories: Blood diseases, Cardiovascular diseases, Ear diseases, Genetic diseases, Immune diseases, Neuronal diseases, Rare 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:
left ventricular hypertrophy (in some patients)
atrial fibrillation (in some patients)
congestive heart failure (in some patients)
cardiomyopathy, dilated (in some patients)
cardiomyopathy, hypertrophic (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 dilated cardiomyopathy 32 occasional (7.5%) HP:0001644
4 mitral regurgitation 32 occasional (7.5%) HP:0001653
5 left ventricular hypertrophy 32 occasional (7.5%) HP:0001712
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 436)
# Gene Variation Type Significance SNP ID Assembly Location
1 MYPN NM_032578.3(MYPN): c.3263G> A (p.Arg1088His) single nucleotide variant Uncertain significance rs71584501 GRCh37 Chromosome 10, 69957213: 69957213
2 MYPN NM_032578.3(MYPN): c.3263G> A (p.Arg1088His) single nucleotide variant Uncertain significance rs71584501 GRCh38 Chromosome 10, 68197456: 68197456
3 MYPN NM_032578.3(MYPN): c.3335C> T (p.Pro1112Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs71534278 GRCh37 Chromosome 10, 69959174: 69959174
4 MYPN NM_032578.3(MYPN): c.3335C> T (p.Pro1112Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs71534278 GRCh38 Chromosome 10, 68199417: 68199417
5 MYPN NM_032578.3(MYPN): c.3583G> A (p.Val1195Met) single nucleotide variant Uncertain significance rs71534280 GRCh37 Chromosome 10, 69961675: 69961675
6 MYPN NM_032578.3(MYPN): c.3583G> A (p.Val1195Met) single nucleotide variant Uncertain significance rs71534280 GRCh38 Chromosome 10, 68201918: 68201918
7 MYPN NM_032578.3(MYPN): c.1178T> C (p.Val393Ala) single nucleotide variant Benign rs11596653 GRCh37 Chromosome 10, 69908157: 69908157
8 MYPN NM_032578.3(MYPN): c.1178T> C (p.Val393Ala) single nucleotide variant Benign rs11596653 GRCh38 Chromosome 10, 68148400: 68148400
9 MYPN NM_032578.3(MYPN): c.3403C> A (p.Pro1135Thr) single nucleotide variant Benign rs7079481 GRCh37 Chromosome 10, 69959242: 69959242
10 MYPN NM_032578.3(MYPN): c.3403C> A (p.Pro1135Thr) single nucleotide variant Benign rs7079481 GRCh38 Chromosome 10, 68199485: 68199485
11 MYPN NM_032578.3(MYPN): c.420T> C (p.Tyr140=) single nucleotide variant Likely benign rs71578990 GRCh37 Chromosome 10, 69881615: 69881615
12 MYPN NM_032578.3(MYPN): c.420T> C (p.Tyr140=) single nucleotide variant Likely benign rs71578990 GRCh38 Chromosome 10, 68121858: 68121858
13 MYPN NM_032578.3(MYPN): c.1662A> C (p.Ala554=) single nucleotide variant Likely benign rs71584488 GRCh37 Chromosome 10, 69926112: 69926112
14 MYPN NM_032578.3(MYPN): c.1662A> C (p.Ala554=) single nucleotide variant Likely benign rs71584488 GRCh38 Chromosome 10, 68166355: 68166355
15 MYPN NM_032578.3(MYPN): c.1935C> T (p.Pro645=) single nucleotide variant Benign/Likely benign rs71535754 GRCh37 Chromosome 10, 69926385: 69926385
16 MYPN NM_032578.3(MYPN): c.1935C> T (p.Pro645=) single nucleotide variant Benign/Likely benign rs71535754 GRCh38 Chromosome 10, 68166628: 68166628
17 MYPN NM_032578.3(MYPN): c.2163C> A (p.Ala721=) single nucleotide variant Benign rs71584491 GRCh37 Chromosome 10, 69934012: 69934012
18 MYPN NM_032578.3(MYPN): c.2163C> A (p.Ala721=) single nucleotide variant Benign rs71584491 GRCh38 Chromosome 10, 68174255: 68174255
19 MYPN NM_032578.3(MYPN): c.2410G> A (p.Gly804Arg) single nucleotide variant Benign rs62620248 GRCh37 Chromosome 10, 69934259: 69934259
20 MYPN NM_032578.3(MYPN): c.2410G> A (p.Gly804Arg) single nucleotide variant Benign rs62620248 GRCh38 Chromosome 10, 68174502: 68174502
21 MYPN NM_032578.3(MYPN): c.2642A> T (p.Asn881Ile) single nucleotide variant Uncertain significance rs71584493 GRCh37 Chromosome 10, 69935157: 69935157
22 MYPN NM_032578.3(MYPN): c.2642A> T (p.Asn881Ile) single nucleotide variant Uncertain significance rs71584493 GRCh38 Chromosome 10, 68175400: 68175400
23 MYPN NM_032578.3(MYPN): c.59A> G (p.Tyr20Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs140148105 GRCh37 Chromosome 10, 69881254: 69881254
24 MYPN NM_032578.3(MYPN): c.59A> G (p.Tyr20Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs140148105 GRCh38 Chromosome 10, 68121497: 68121497
25 MYPN NM_032578.3(MYPN): c.458A> G (p.Lys153Arg) single nucleotide variant Likely pathogenic rs199476401 GRCh37 Chromosome 10, 69881653: 69881653
26 MYPN NM_032578.3(MYPN): c.458A> G (p.Lys153Arg) single nucleotide variant Likely pathogenic rs199476401 GRCh38 Chromosome 10, 68121896: 68121896
27 MYPN NM_032578.3(MYPN): c.650C> A (p.Ala217Glu) single nucleotide variant Uncertain significance rs199476403 GRCh37 Chromosome 10, 69881845: 69881845
28 MYPN NM_032578.3(MYPN): c.650C> A (p.Ala217Glu) single nucleotide variant Uncertain significance rs199476403 GRCh38 Chromosome 10, 68122088: 68122088
29 MYPN NM_032578.3(MYPN): c.3793G> C (p.Ala1265Pro) single nucleotide variant Uncertain significance rs199476416 GRCh37 Chromosome 10, 69966660: 69966660
30 MYPN NM_032578.3(MYPN): c.3793G> C (p.Ala1265Pro) single nucleotide variant Uncertain significance rs199476416 GRCh38 Chromosome 10, 68206903: 68206903
31 MYPN NM_032578.3(MYPN): c.1229T> C (p.Val410Ala) single nucleotide variant Uncertain significance rs199476406 GRCh37 Chromosome 10, 69908208: 69908208
32 MYPN NM_032578.3(MYPN): c.1229T> C (p.Val410Ala) single nucleotide variant Uncertain significance rs199476406 GRCh38 Chromosome 10, 68148451: 68148451
33 MYPN NM_032578.3(MYPN): c.1585C> T (p.Gln529Ter) single nucleotide variant Pathogenic rs199476408 GRCh37 Chromosome 10, 69925560: 69925560
34 MYPN NM_032578.3(MYPN): c.1585C> T (p.Gln529Ter) single nucleotide variant Pathogenic rs199476408 GRCh38 Chromosome 10, 68165803: 68165803
35 MYPN NM_032578.3(MYPN): c.2521C> A (p.Pro841Thr) single nucleotide variant Uncertain significance rs199476410 GRCh37 Chromosome 10, 69934370: 69934370
36 MYPN NM_032578.3(MYPN): c.2521C> A (p.Pro841Thr) single nucleotide variant Uncertain significance rs199476410 GRCh38 Chromosome 10, 68174613: 68174613
37 MYPN NM_032578.3(MYPN): c.3481C> A (p.Leu1161Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs138313730 GRCh37 Chromosome 10, 69959320: 69959320
38 MYPN NM_032578.3(MYPN): c.3481C> A (p.Leu1161Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs138313730 GRCh38 Chromosome 10, 68199563: 68199563
39 MYPN NM_032578.3(MYPN): c.637A> G (p.Ile213Val) single nucleotide variant Uncertain significance rs199476402 GRCh37 Chromosome 10, 69881832: 69881832
40 MYPN NM_032578.3(MYPN): c.637A> G (p.Ile213Val) single nucleotide variant Uncertain significance rs199476402 GRCh38 Chromosome 10, 68122075: 68122075
41 MYPN NM_032578.3(MYPN): c.2644G> A (p.Ala882Thr) single nucleotide variant Uncertain significance rs199476411 GRCh37 Chromosome 10, 69935159: 69935159
42 MYPN NM_032578.3(MYPN): c.2644G> A (p.Ala882Thr) single nucleotide variant Uncertain significance rs199476411 GRCh38 Chromosome 10, 68175402: 68175402
43 MYPN NM_032578.3(MYPN): c.1016A> T (p.Tyr339Phe) single nucleotide variant Uncertain significance rs199476404 GRCh37 Chromosome 10, 69902810: 69902810
44 MYPN NM_032578.3(MYPN): c.1016A> T (p.Tyr339Phe) single nucleotide variant Uncertain significance rs199476404 GRCh38 Chromosome 10, 68143053: 68143053
45 MYPN NM_032578.3(MYPN): c.1831G> A (p.Ala611Thr) single nucleotide variant Uncertain significance rs199476409 GRCh37 Chromosome 10, 69926281: 69926281
46 MYPN NM_032578.3(MYPN): c.1831G> A (p.Ala611Thr) single nucleotide variant Uncertain significance rs199476409 GRCh38 Chromosome 10, 68166524: 68166524
47 MYPN NM_032578.3(MYPN): c.2862C> A (p.Phe954Leu) single nucleotide variant Uncertain significance rs199476413 GRCh37 Chromosome 10, 69948820: 69948820
48 MYPN NM_032578.3(MYPN): c.2862C> A (p.Phe954Leu) single nucleotide variant Uncertain significance rs199476413 GRCh38 Chromosome 10, 68189063: 68189063
49 MYPN NM_032578.3(MYPN): c.465C> G (p.Ala155=) single nucleotide variant Benign/Likely benign rs142867001 GRCh37 Chromosome 10, 69881660: 69881660
50 MYPN NM_032578.3(MYPN): c.465C> G (p.Ala155=) single nucleotide variant Benign/Likely benign rs142867001 GRCh38 Chromosome 10, 68121903: 68121903

Expression for Cardiomyopathy, Dilated, 1kk

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Pathways for Cardiomyopathy, Dilated, 1kk

GO Terms for Cardiomyopathy, Dilated, 1kk

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