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 58 13 74
Cardiomyopathy, Familial Restrictive, 4 58 6 74
Dilated Cardiomyopathy 1kk 12 30 6
Cmd1kk 58 12 76
Cardiomyopathy, Familial Hypertrophic, 22 74
Cardiomyopathy, Familial Hypertrophic 22 76
Familial Hypertrophic Cardiomyopathy 22 6
Cardiomyopathy, Familial Restrictive 4 76
Cardiomyopathy, Hypertrophic, 22 58
Cardiomyopathy, Dilated 1kk 76
Cmh22 76
Rcm4 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
cardiomyopathy, dilated, 1kk:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Cardiomyopathy, Dilated, 1kk

UniProtKB/Swiss-Prot : 76 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

Human phenotypes related to Cardiomyopathy, Dilated, 1kk:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 hypertrophic cardiomyopathy 33 occasional (7.5%) HP:0001639
2 congestive heart failure 33 occasional (7.5%) HP:0001635
3 dilated cardiomyopathy 33 occasional (7.5%) HP:0001644
4 mitral regurgitation 33 occasional (7.5%) HP:0001653
5 left ventricular hypertrophy 33 occasional (7.5%) HP:0001712
6 atrial fibrillation 33 occasional (7.5%) HP:0005110

Symptoms via clinical synopsis from OMIM:

58
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

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 30 MYPN

Anatomical Context for Cardiomyopathy, Dilated, 1kk

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

42
Heart

Publications for Cardiomyopathy, Dilated, 1kk

Variations for Cardiomyopathy, Dilated, 1kk

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

76 (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_001256267.1(MYPN): c.3886T> A (p.Ser1296Thr) single nucleotide variant Likely benign rs199585352 GRCh38 Chromosome 10, 68210378: 68210378
2 MYPN NM_001256267.1(MYPN): c.3886T> A (p.Ser1296Thr) single nucleotide variant Likely benign rs199585352 GRCh37 Chromosome 10, 69970135: 69970135
3 MYPN NM_001256267.1(MYPN): c.3913A> G (p.Met1305Val) single nucleotide variant Uncertain significance rs730880170 GRCh38 Chromosome 10, 68210405: 68210405
4 MYPN NM_001256267.1(MYPN): c.3913A> G (p.Met1305Val) single nucleotide variant Uncertain significance rs730880170 GRCh37 Chromosome 10, 69970162: 69970162
5 MYPN NM_032578.3(MYPN): c.392G> T (p.Ser131Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs199853307 GRCh37 Chromosome 10, 69881587: 69881587
6 MYPN NM_032578.3(MYPN): c.392G> T (p.Ser131Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs199853307 GRCh38 Chromosome 10, 68121830: 68121830
7 MYPN NM_032578.3(MYPN): c.662A> T (p.Asp221Val) single nucleotide variant Uncertain significance rs185841477 GRCh37 Chromosome 10, 69881857: 69881857
8 MYPN NM_032578.3(MYPN): c.662A> T (p.Asp221Val) single nucleotide variant Uncertain significance rs185841477 GRCh38 Chromosome 10, 68122100: 68122100
9 MYPN NM_032578.3(MYPN): c.952G> A (p.Val318Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs112518450 GRCh37 Chromosome 10, 69902746: 69902746
10 MYPN NM_032578.3(MYPN): c.952G> A (p.Val318Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs112518450 GRCh38 Chromosome 10, 68142989: 68142989
11 MYPN NM_032578.3(MYPN): c.1130G> A (p.Arg377Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs147596628 GRCh37 Chromosome 10, 69905283: 69905283
12 MYPN NM_032578.3(MYPN): c.1130G> A (p.Arg377Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs147596628 GRCh38 Chromosome 10, 68145526: 68145526
13 MYPN NM_032578.3(MYPN): c.1790G> A (p.Arg597His) single nucleotide variant Conflicting interpretations of pathogenicity rs150911078 GRCh37 Chromosome 10, 69926240: 69926240
14 MYPN NM_032578.3(MYPN): c.1790G> A (p.Arg597His) single nucleotide variant Conflicting interpretations of pathogenicity rs150911078 GRCh38 Chromosome 10, 68166483: 68166483
15 MYPN NM_032578.3(MYPN): c.1858A> G (p.Thr620Ala) single nucleotide variant Uncertain significance rs144031245 GRCh37 Chromosome 10, 69926308: 69926308
16 MYPN NM_032578.3(MYPN): c.1858A> G (p.Thr620Ala) single nucleotide variant Uncertain significance rs144031245 GRCh38 Chromosome 10, 68166551: 68166551
17 MYPN NM_032578.3(MYPN): c.2260A> C (p.Ile754Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs201245117 GRCh37 Chromosome 10, 69934109: 69934109
18 MYPN NM_032578.3(MYPN): c.2260A> C (p.Ile754Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs201245117 GRCh38 Chromosome 10, 68174352: 68174352
19 MYPN NM_032578.3(MYPN): c.2560T> A (p.Ser854Thr) single nucleotide variant Uncertain significance rs200432306 GRCh38 Chromosome 10, 68174652: 68174652
20 MYPN NM_032578.3(MYPN): c.2560T> A (p.Ser854Thr) single nucleotide variant Uncertain significance rs200432306 GRCh37 Chromosome 10, 69934409: 69934409
21 MYPN NM_032578.3(MYPN): c.2756G> A (p.Arg919His) single nucleotide variant Uncertain significance rs193022869 GRCh38 Chromosome 10, 68188957: 68188957
22 MYPN NM_032578.3(MYPN): c.2756G> A (p.Arg919His) single nucleotide variant Uncertain significance rs193022869 GRCh37 Chromosome 10, 69948714: 69948714
23 MYPN NM_032578.3(MYPN): c.2863C> T (p.Arg955Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs149887823 GRCh38 Chromosome 10, 68189064: 68189064
24 MYPN NM_032578.3(MYPN): c.2863C> T (p.Arg955Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs149887823 GRCh37 Chromosome 10, 69948821: 69948821
25 MYPN NM_032578.3(MYPN): c.3421G> A (p.Ala1141Thr) single nucleotide variant Benign rs150404143 GRCh37 Chromosome 10, 69959260: 69959260
26 MYPN NM_032578.3(MYPN): c.3421G> A (p.Ala1141Thr) single nucleotide variant Benign rs150404143 GRCh38 Chromosome 10, 68199503: 68199503
27 MYPN NM_032578.3(MYPN): c.3833G> A (p.Arg1278Gln) single nucleotide variant Uncertain significance rs142877365 GRCh37 Chromosome 10, 69970082: 69970082
28 MYPN NM_032578.3(MYPN): c.3833G> A (p.Arg1278Gln) single nucleotide variant Uncertain significance rs142877365 GRCh38 Chromosome 10, 68210325: 68210325
29 MYPN NM_032578.3(MYPN): c.3846T> A (p.Ser1282Arg) single nucleotide variant Benign/Likely benign rs147659164 GRCh37 Chromosome 10, 69970095: 69970095
30 MYPN NM_032578.3(MYPN): c.3846T> A (p.Ser1282Arg) single nucleotide variant Benign/Likely benign rs147659164 GRCh38 Chromosome 10, 68210338: 68210338
31 MYPN NM_032578.3(MYPN): c.3934C> T (p.Arg1312Trp) single nucleotide variant Uncertain significance rs142354704 GRCh38 Chromosome 10, 68210426: 68210426
32 MYPN NM_032578.3(MYPN): c.3934C> T (p.Arg1312Trp) single nucleotide variant Uncertain significance rs142354704 GRCh37 Chromosome 10, 69970183: 69970183
33 MYPN NM_032578.3(MYPN): c.3417C> T (p.Arg1139=) single nucleotide variant Benign/Likely benign rs144488384 GRCh37 Chromosome 10, 69959256: 69959256
34 MYPN NM_032578.3(MYPN): c.3417C> T (p.Arg1139=) single nucleotide variant Benign/Likely benign rs144488384 GRCh38 Chromosome 10, 68199499: 68199499
35 MYPN NM_032578.3(MYPN): c.1293C> A (p.Ile431=) single nucleotide variant Benign/Likely benign rs147184158 GRCh37 Chromosome 10, 69909844: 69909844
36 MYPN NM_032578.3(MYPN): c.1293C> A (p.Ile431=) single nucleotide variant Benign/Likely benign rs147184158 GRCh38 Chromosome 10, 68150087: 68150087
37 MYPN NM_032578.3(MYPN): c.782A> G (p.Tyr261Cys) single nucleotide variant Uncertain significance rs148034353 GRCh37 Chromosome 10, 69881977: 69881977
38 MYPN NM_032578.3(MYPN): c.782A> G (p.Tyr261Cys) single nucleotide variant Uncertain significance rs148034353 GRCh38 Chromosome 10, 68122220: 68122220
39 MYPN NM_032578.3(MYPN): c.845A> G (p.Glu282Gly) single nucleotide variant Uncertain significance rs146336815 GRCh37 Chromosome 10, 69882040: 69882040
40 MYPN NM_032578.3(MYPN): c.845A> G (p.Glu282Gly) single nucleotide variant Uncertain significance rs146336815 GRCh38 Chromosome 10, 68122283: 68122283
41 MYPN NM_032578.3(MYPN): c.1105G> A (p.Asp369Asn) single nucleotide variant Uncertain significance rs764775347 GRCh37 Chromosome 10, 69905258: 69905258
42 MYPN NM_032578.3(MYPN): c.1105G> A (p.Asp369Asn) single nucleotide variant Uncertain significance rs764775347 GRCh38 Chromosome 10, 68145501: 68145501
43 MYPN NM_032578.3(MYPN): c.1246-19G> A single nucleotide variant Benign rs75739924 GRCh37 Chromosome 10, 69909778: 69909778
44 MYPN NM_032578.3(MYPN): c.1246-19G> A single nucleotide variant Benign rs75739924 GRCh38 Chromosome 10, 68150021: 68150021
45 MYPN NM_032578.3(MYPN): c.2228C> T (p.Pro743Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs138583865 GRCh37 Chromosome 10, 69934077: 69934077
46 MYPN NM_032578.3(MYPN): c.2228C> T (p.Pro743Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs138583865 GRCh38 Chromosome 10, 68174320: 68174320
47 MYPN NM_032578.3(MYPN): c.2236A> G (p.Thr746Ala) single nucleotide variant Benign/Likely benign rs147287437 GRCh37 Chromosome 10, 69934085: 69934085
48 MYPN NM_032578.3(MYPN): c.2236A> G (p.Thr746Ala) single nucleotide variant Benign/Likely benign rs147287437 GRCh38 Chromosome 10, 68174328: 68174328
49 MYPN NM_032578.3(MYPN): c.3122T> A (p.Ile1041Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs754227127 GRCh37 Chromosome 10, 69955253: 69955253
50 MYPN NM_032578.3(MYPN): c.3122T> A (p.Ile1041Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs754227127 GRCh38 Chromosome 10, 68195496: 68195496

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....