CMD1KK
MCID: CRD155
MIFTS: 30

Cardiomyopathy, Dilated, 1kk (CMD1KK)

Categories: Bone diseases, Cardiovascular diseases, Ear diseases, Genetic diseases, Immune diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Cardiomyopathy, Dilated, 1kk

MalaCards integrated aliases for Cardiomyopathy, Dilated, 1kk:

Name: Cardiomyopathy, Dilated, 1kk 57 13 70
Cardiomyopathy, Familial Restrictive, 4 57 29 6 70
Dilated Cardiomyopathy 1kk 12 29 6
Cmd1kk 57 12 72
Cardiomyopathy, Hypertrophic, 22 57 29
Cardiomyopathy, Familial Hypertrophic, 22 70
Cardiomyopathy, Familial Hypertrophic 22 72
Familial Hypertrophic Cardiomyopathy 22 6
Cardiomyopathy, Familial Restrictive 4 72
Cardiomyopathy, Dilated, Type 1kk 39
Cardiomyopathy, Dilated 1kk 72
Cmh22 72
Rcm4 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

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


HPO:

31
cardiomyopathy, dilated, 1kk:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110445
OMIM® 57 615248
OMIM Phenotypic Series 57 PS115200 PS115210 PS192600
ICD10 32 I42.0
UMLS 70 C3714995 C3714998 C3808963

Summaries for Cardiomyopathy, Dilated, 1kk

UniProtKB/Swiss-Prot : 72 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 congestive heart failure and hypertrophic cardiomyopathy

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

More information from OMIM: 615248 PS115200 PS115210 PS192600

Symptoms & Phenotypes for Cardiomyopathy, Dilated, 1kk

Human phenotypes related to Cardiomyopathy, Dilated, 1kk:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 congestive heart failure 31 occasional (7.5%) HP:0001635
2 hypertrophic cardiomyopathy 31 occasional (7.5%) HP:0001639
3 dilated cardiomyopathy 31 occasional (7.5%) HP:0001644
4 mitral regurgitation 31 occasional (7.5%) HP:0001653
5 left ventricular hypertrophy 31 occasional (7.5%) HP:0001712
6 atrial fibrillation 31 occasional (7.5%) HP:0005110
7 ventricular septal hypertrophy 31 very rare (1%) HP:0005144

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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
2 Cardiomyopathy, Hypertrophic, 22 29
3 Cardiomyopathy, Familial Restrictive, 4 29

Anatomical Context for Cardiomyopathy, Dilated, 1kk

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

40
Heart

Publications for Cardiomyopathy, Dilated, 1kk

Articles related to Cardiomyopathy, Dilated, 1kk:

# Title Authors PMID Year
1
Novel mutations in the sarcomeric protein myopalladin in patients with dilated cardiomyopathy. 6 57
22892539 2013
2
Molecular basis for clinical heterogeneity in inherited cardiomyopathies due to myopalladin mutations. 57 6
22286171 2012
3
Mutations in the Z-band protein myopalladin gene and idiopathic dilated cardiomyopathy. 57 6
18006477 2008
4
Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy. 6
28017374 2017
5
Expression in Escherichia coli and purification of bioactive antibacterial peptide ABP-CM4 from the Chinese silk worm, Bombyx mori. 61
17375264 2007
6
Cloning and expression of functional cDNA genes of a mouse/human chimeric antibody rcM4. 61
7900239 1994

Variations for Cardiomyopathy, Dilated, 1kk

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

6 (show top 50) (show all 479)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MYPN NM_032578.4(MYPN):c.1585C>T (p.Gln529Ter) SNV Pathogenic 31816 rs199476408 GRCh37: 10:69925560-69925560
GRCh38: 10:68165803-68165803
2 MYPN NM_032578.4(MYPN):c.3263G>A (p.Arg1088His) SNV Pathogenic 31790 rs71584501 GRCh37: 10:69957213-69957213
GRCh38: 10:68197456-68197456
3 MYPN NM_032578.3(MYPN):c.3127del (p.Ser1043fs) Deletion Pathogenic 661274 rs1589608098 GRCh37: 10:69955258-69955258
GRCh38: 10:68195501-68195501
4 MYPN NM_032578.4(MYPN):c.295C>T (p.Arg99Ter) SNV Pathogenic 851819 GRCh37: 10:69881490-69881490
GRCh38: 10:68121733-68121733
5 MYPN NM_032578.4(MYPN):c.2968G>T (p.Glu990Ter) SNV Pathogenic 955067 GRCh37: 10:69954162-69954162
GRCh38: 10:68194405-68194405
6 MYPN NM_032578.4(MYPN):c.59A>G (p.Tyr20Cys) SNV Pathogenic 31811 rs140148105 GRCh37: 10:69881254-69881254
GRCh38: 10:68121497-68121497
7 MYPN NM_032578.4(MYPN):c.3335C>T (p.Pro1112Leu) SNV Pathogenic 31791 rs71534278 GRCh37: 10:69959174-69959174
GRCh38: 10:68199417-68199417
8 MYPN NM_032578.4(MYPN):c.1246-2A>G SNV Likely pathogenic 935435 GRCh37: 10:69909795-69909795
GRCh38: 10:68150038-68150038
9 MYPN NM_032578.4(MYPN):c.2704-1G>A SNV Likely pathogenic 585286 rs865921466 GRCh37: 10:69948661-69948661
GRCh38: 10:68188904-68188904
10 MYPN NM_032578.4(MYPN):c.3583G>A (p.Val1195Met) SNV Conflicting interpretations of pathogenicity 31792 rs71534280 GRCh37: 10:69961675-69961675
GRCh38: 10:68201918-68201918
11 MYPN NM_032578.4(MYPN):c.2882C>T (p.Pro961Leu) SNV Conflicting interpretations of pathogenicity 50512 rs864621995 GRCh37: 10:69948840-69948840
GRCh38: 10:68189083-68189083
12 MYPN NM_032578.4(MYPN):c.3124C>T (p.Arg1042Cys) SNV Conflicting interpretations of pathogenicity 155824 rs151282801 GRCh37: 10:69955255-69955255
GRCh38: 10:68195498-68195498
13 MYPN NM_032578.4(MYPN):c.1130G>A (p.Arg377Gln) SNV Conflicting interpretations of pathogenicity 191749 rs147596628 GRCh37: 10:69905283-69905283
GRCh38: 10:68145526-68145526
14 MYPN NM_032578.4(MYPN):c.3481C>A (p.Leu1161Ile) SNV Conflicting interpretations of pathogenicity 31819 rs138313730 GRCh37: 10:69959320-69959320
GRCh38: 10:68199563-68199563
15 MYPN NM_032578.4(MYPN):c.3335C>T (p.Pro1112Leu) SNV Conflicting interpretations of pathogenicity 31791 rs71534278 GRCh37: 10:69959174-69959174
GRCh38: 10:68199417-68199417
16 MYPN NM_032578.4(MYPN):c.458A>G (p.Lys153Arg) SNV Uncertain significance 31812 rs199476401 GRCh37: 10:69881653-69881653
GRCh38: 10:68121896-68121896
17 MYPN NM_032578.4(MYPN):c.3913A>G (p.Met1305Val) SNV Uncertain significance 180453 rs730880170 GRCh37: 10:69970162-69970162
GRCh38: 10:68210405-68210405
18 MYPN NM_032578.4(MYPN):c.259C>G (p.Pro87Ala) SNV Uncertain significance 573255 rs376945733 GRCh37: 10:69881454-69881454
GRCh38: 10:68121697-68121697
19 MYPN NM_032578.4(MYPN):c.2150C>T (p.Thr717Met) SNV Uncertain significance 664841 rs141276802 GRCh37: 10:69933999-69933999
GRCh38: 10:68174242-68174242
20 MYPN NM_032578.4(MYPN):c.3271C>T (p.Arg1091Trp) SNV Uncertain significance 863004 GRCh37: 10:69957221-69957221
GRCh38: 10:68197464-68197464
21 MYPN NM_032578.4(MYPN):c.3632C>A (p.Thr1211Asn) SNV Uncertain significance 854059 GRCh37: 10:69961724-69961724
GRCh38: 10:68201967-68201967
22 MYPN NM_032578.4(MYPN):c.1594G>A (p.Val532Met) SNV Uncertain significance 201884 rs760362375 GRCh37: 10:69925569-69925569
GRCh38: 10:68165812-68165812
23 MYPN NM_032578.4(MYPN):c.3158+14G>A SNV Uncertain significance 931579 GRCh37: 10:69955303-69955303
GRCh38: 10:68195546-68195546
24 MYPN NM_032578.4(MYPN):c.1751A>G (p.Asn584Ser) SNV Uncertain significance 933696 GRCh37: 10:69926201-69926201
GRCh38: 10:68166444-68166444
25 MYPN NM_032578.4(MYPN):c.1411G>A (p.Glu471Lys) SNV Uncertain significance 936964 GRCh37: 10:69918336-69918336
GRCh38: 10:68158579-68158579
26 MYPN NM_032578.4(MYPN):c.2168C>T (p.Pro723Leu) SNV Uncertain significance 201886 rs550827308 GRCh37: 10:69934017-69934017
GRCh38: 10:68174260-68174260
27 MYPN NM_032578.4(MYPN):c.1375A>G (p.Lys459Glu) SNV Uncertain significance 937541 GRCh37: 10:69918300-69918300
GRCh38: 10:68158543-68158543
28 MYPN NM_032578.4(MYPN):c.1618AAC[3] (p.Asn541dup) Microsatellite Uncertain significance 938511 GRCh37: 10:69926066-69926067
GRCh38: 10:68166309-68166310
29 MYPN NM_032578.4(MYPN):c.3880A>G (p.Ile1294Val) SNV Uncertain significance 939808 GRCh37: 10:69970129-69970129
GRCh38: 10:68210372-68210372
30 MYPN NM_032578.4(MYPN):c.890C>T (p.Pro297Leu) SNV Uncertain significance 379260 rs138187845 GRCh37: 10:69882085-69882085
GRCh38: 10:68122328-68122328
31 MYPN NM_032578.4(MYPN):c.1483+6G>A SNV Uncertain significance 940783 GRCh37: 10:69921515-69921515
GRCh38: 10:68161758-68161758
32 MYPN NM_032578.4(MYPN):c.3136A>C (p.Thr1046Pro) SNV Uncertain significance 942308 GRCh37: 10:69955267-69955267
GRCh38: 10:68195510-68195510
33 MYPN NM_032578.4(MYPN):c.1259C>A (p.Thr420Asn) SNV Uncertain significance 943874 GRCh37: 10:69909810-69909810
GRCh38: 10:68150053-68150053
34 MYPN NM_032578.4(MYPN):c.3440T>C (p.Ile1147Thr) SNV Uncertain significance 945380 GRCh37: 10:69959279-69959279
GRCh38: 10:68199522-68199522
35 MYPN NM_032578.4(MYPN):c.2362G>C (p.Gly788Arg) SNV Uncertain significance 945712 GRCh37: 10:69934211-69934211
GRCh38: 10:68174454-68174454
36 MYPN NM_032578.4(MYPN):c.1564G>A (p.Gly522Ser) SNV Uncertain significance 945827 GRCh37: 10:69925539-69925539
GRCh38: 10:68165782-68165782
37 MYPN NM_032578.4(MYPN):c.163G>A (p.Gly55Arg) SNV Uncertain significance 946233 GRCh37: 10:69881358-69881358
GRCh38: 10:68121601-68121601
38 MYPN NM_032578.4(MYPN):c.2516C>A (p.Ala839Asp) SNV Uncertain significance 946969 GRCh37: 10:69934365-69934365
GRCh38: 10:68174608-68174608
39 MYPN NM_032578.4(MYPN):c.1253G>A (p.Ser418Asn) SNV Uncertain significance 947306 GRCh37: 10:69909804-69909804
GRCh38: 10:68150047-68150047
40 MYPN NM_032578.4(MYPN):c.3305C>T (p.Pro1102Leu) SNV Uncertain significance 520383 rs201693405 GRCh37: 10:69959144-69959144
GRCh38: 10:68199387-68199387
41 MYPN NM_032578.4(MYPN):c.1280A>G (p.Asp427Gly) SNV Uncertain significance 947674 GRCh37: 10:69909831-69909831
GRCh38: 10:68150074-68150074
42 MYPN NM_032578.4(MYPN):c.2221A>G (p.Ser741Gly) SNV Uncertain significance 948305 GRCh37: 10:69934070-69934070
GRCh38: 10:68174313-68174313
43 MYPN NM_032578.4(MYPN):c.1560A>G (p.Lys520=) SNV Uncertain significance 949290 GRCh37: 10:69925535-69925535
GRCh38: 10:68165778-68165778
44 MYPN NM_032578.4(MYPN):c.1130+3A>C SNV Uncertain significance 950524 GRCh37: 10:69905286-69905286
GRCh38: 10:68145529-68145529
45 MYPN NM_001256268.1(MYPN):c.-842C>G SNV Uncertain significance 691722 rs377389861 GRCh37: 10:69881476-69881476
GRCh38: 10:68121719-68121719
46 MYPN NM_032578.4(MYPN):c.2267G>A (p.Arg756Lys) SNV Uncertain significance 951925 GRCh37: 10:69934116-69934116
GRCh38: 10:68174359-68174359
47 MYPN NM_032578.4(MYPN):c.2134G>C (p.Ala712Pro) SNV Uncertain significance 229033 rs876657921 GRCh37: 10:69933983-69933983
GRCh38: 10:68174226-68174226
48 MYPN NM_032578.4(MYPN):c.1101A>C (p.Glu367Asp) SNV Uncertain significance 953652 GRCh37: 10:69905254-69905254
GRCh38: 10:68145497-68145497
49 MYPN NM_032578.4(MYPN):c.1225C>T (p.Arg409Cys) SNV Uncertain significance 449328 rs757431496 GRCh37: 10:69908204-69908204
GRCh38: 10:68148447-68148447
50 MYPN NM_032578.4(MYPN):c.809G>T (p.Arg270Leu) SNV Uncertain significance 953997 GRCh37: 10:69882004-69882004
GRCh38: 10:68122247-68122247

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

72 (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

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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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