CMD1I
MCID: CRD111
MIFTS: 25

Cardiomyopathy, Dilated, 1i (CMD1I)

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

Aliases & Classifications for Cardiomyopathy, Dilated, 1i

MalaCards integrated aliases for Cardiomyopathy, Dilated, 1i:

Name: Cardiomyopathy, Dilated, 1i 57 13 70
Dilated Cardiomyopathy 1i 12 29 6
Cmd1i 57 12 72
Cardiomyopathy, Dilated, Type 1i 39
Cardiomyopathy, Dilated 1i 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
incomplete penetrance
sudden death (in some patients)

Inheritance:
autosomal dominant


HPO:

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


Classifications:



External Ids:

Disease Ontology 12 DOID:0110431
OMIM® 57 604765
OMIM Phenotypic Series 57 PS115200
MeSH 44 D002311
ICD10 32 I42.0
MedGen 41 C1858154
UMLS 70 C1858154

Summaries for Cardiomyopathy, Dilated, 1i

UniProtKB/Swiss-Prot : 72 Cardiomyopathy, dilated 1I: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.

MalaCards based summary : Cardiomyopathy, Dilated, 1i, is also known as dilated cardiomyopathy 1i. An important gene associated with Cardiomyopathy, Dilated, 1i is DES (Desmin). Affiliated tissues include heart, and related phenotypes are congestive heart failure and dilated cardiomyopathy

Disease Ontology : 12 A dilated cardiomyopathy that has material basis in mutation in the DES gene on chromosome 2q35.

More information from OMIM: 604765 PS115200

Symptoms & Phenotypes for Cardiomyopathy, Dilated, 1i

Human phenotypes related to Cardiomyopathy, Dilated, 1i:

31
# Description HPO Frequency HPO Source Accession
1 congestive heart failure 31 HP:0001635
2 dilated cardiomyopathy 31 HP:0001644
3 reduced systolic function 31 HP:0006673

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Cardiovascular Heart:
cardiomegaly
dilated cardiomyopathy
atrial fibrillation
right bundle branch block
restrictive cardiomyopathy
more

Clinical features from OMIM®:

604765 (Updated 20-May-2021)

Drugs & Therapeutics for Cardiomyopathy, Dilated, 1i

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

Genetic Tests for Cardiomyopathy, Dilated, 1i

Genetic tests related to Cardiomyopathy, Dilated, 1i:

# Genetic test Affiliating Genes
1 Dilated Cardiomyopathy 1i 29 DES

Anatomical Context for Cardiomyopathy, Dilated, 1i

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

40
Heart

Publications for Cardiomyopathy, Dilated, 1i

Articles related to Cardiomyopathy, Dilated, 1i:

# Title Authors PMID Year
1
Prevalence of desmin mutations in dilated cardiomyopathy. 57 6
17325244 2007
2
Frequency and clinical characteristics of dilated cardiomyopathy caused by desmin gene mutation in a Japanese population. 6 57
11728149 2001
3
Desmin mutation responsible for idiopathic dilated cardiomyopathy. 6 57
10430757 1999
4
Restrictive Cardiomyopathy is Caused by a Novel Homozygous Desmin (DES) Mutation p.Y122H Leading to a Severe Filament Assembly Defect. 57
31718026 2019
5
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 57
27532257 2017
6
The novel desmin mutant p.A120D impairs filament formation, prevents intercalated disk localization, and causes sudden cardiac death. 57
24200904 2013
7
Desmin mutations as a cause of right ventricular heart failure affect the intercalated disks. 57
20423733 2010
8
Conspicuous involvement of desmin tail mutations in diverse cardiac and skeletal myopathies. 57
17221859 2007

Variations for Cardiomyopathy, Dilated, 1i

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

6 (show top 50) (show all 52)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DES NM_001927.4(DES):c.1009G>C (p.Ala337Pro) SNV Pathogenic 16820 rs59962885 GRCh37: 2:220285661-220285661
GRCh38: 2:219420939-219420939
2 DES NM_001927.4(DES):c.1048C>T (p.Arg350Trp) SNV Pathogenic 44244 rs62636492 GRCh37: 2:220286086-220286086
GRCh38: 2:219421364-219421364
3 DES NM_001927.4(DES):c.*112C>G SNV Uncertain significance 898565 GRCh37: 2:220290824-220290824
GRCh38: 2:219426102-219426102
4 DES NM_001927.4(DES):c.-7C>G SNV Uncertain significance 290155 rs764966574 GRCh37: 2:220283178-220283178
GRCh38: 2:219418456-219418456
5 DES NM_001927.4(DES):c.934G>A (p.Asp312Asn) SNV Uncertain significance 44274 rs34337334 GRCh37: 2:220285586-220285586
GRCh38: 2:219420864-219420864
6 DES NM_001927.4(DES):c.893C>T (p.Ser298Leu) SNV Uncertain significance 66423 rs62636491 GRCh37: 2:220285374-220285374
GRCh38: 2:219420652-219420652
7 DES-LCR , DES NM_001927.4(DES):c.-54C>T SNV Uncertain significance 895278 GRCh37: 2:220283131-220283131
GRCh38: 2:219418409-219418409
8 DES NM_001927.4(DES):c.193G>A (p.Gly65Ser) SNV Uncertain significance 44256 rs397516692 GRCh37: 2:220283377-220283377
GRCh38: 2:219418655-219418655
9 DES NM_001927.4(DES):c.247T>C (p.Tyr83His) SNV Uncertain significance 895360 GRCh37: 2:220283431-220283431
GRCh38: 2:219418709-219418709
10 DES NM_001927.4(DES):c.*114G>T SNV Uncertain significance 895572 GRCh37: 2:220290826-220290826
GRCh38: 2:219426104-219426104
11 DES NM_001927.4(DES):c.728A>G (p.His243Arg) SNV Uncertain significance 451940 rs1410266369 GRCh37: 2:220285061-220285061
GRCh38: 2:219420339-219420339
12 DES NM_001927.4(DES):c.735+11G>A SNV Uncertain significance 896829 GRCh37: 2:220285079-220285079
GRCh38: 2:219420357-219420357
13 DES NM_001927.4(DES):c.*280G>A SNV Uncertain significance 896976 GRCh37: 2:220290992-220290992
GRCh38: 2:219426270-219426270
14 DES NM_001927.4(DES):c.*295G>A SNV Uncertain significance 896977 GRCh37: 2:220291007-220291007
GRCh38: 2:219426285-219426285
15 DES NM_001927.4(DES):c.*695C>T SNV Uncertain significance 897046 GRCh37: 2:220291407-220291407
GRCh38: 2:219426685-219426685
16 DES NM_001927.4(DES):c.*308C>A SNV Uncertain significance 897464 GRCh37: 2:220291020-220291020
GRCh38: 2:219426298-219426298
17 DES NM_001927.4(DES):c.170C>T (p.Ser57Leu) SNV Uncertain significance 44254 rs372825868 GRCh37: 2:220283354-220283354
GRCh38: 2:219418632-219418632
18 DES NM_001927.4(DES):c.642C>T (p.Asp214=) SNV Uncertain significance 44266 rs370239228 GRCh37: 2:220284975-220284975
GRCh38: 2:219420253-219420253
19 DES NM_001927.4(DES):c.*559G>A SNV Uncertain significance 334455 rs547498920 GRCh37: 2:220291271-220291271
GRCh38: 2:219426549-219426549
20 DES NM_001927.4(DES):c.*489G>A SNV Uncertain significance 334454 rs886055655 GRCh37: 2:220291201-220291201
GRCh38: 2:219426479-219426479
21 DES NM_001927.4(DES):c.193G>A (p.Gly65Ser) SNV Uncertain significance 44256 rs397516692 GRCh37: 2:220283377-220283377
GRCh38: 2:219418655-219418655
22 DES NM_001927.4(DES):c.541G>A (p.Asp181Asn) SNV Uncertain significance 488165 rs1297244198 GRCh37: 2:220283725-220283725
GRCh38: 2:219419003-219419003
23 DES NM_001927.4(DES):c.1063C>T (p.Arg355Ter) SNV Uncertain significance 617903 rs762808690 GRCh37: 2:220286101-220286101
GRCh38: 2:219421379-219421379
24 DES NM_001927.4(DES):c.216C>A (p.Ser72Arg) SNV Uncertain significance 193219 rs375719734 GRCh37: 2:220283400-220283400
GRCh38: 2:219418678-219418678
25 DES NM_001927.4(DES):c.1353C>G (p.Ile451Met) SNV Uncertain significance 16824 rs121913002 GRCh37: 2:220290449-220290449
GRCh38: 2:219425727-219425727
26 DES NM_001927.4(DES):c.*198G>A SNV Uncertain significance 334451 rs560055588 GRCh37: 2:220290910-220290910
GRCh38: 2:219426188-219426188
27 DES NM_001927.4(DES):c.-6G>A SNV Uncertain significance 334450 rs774967446 GRCh37: 2:220283179-220283179
GRCh38: 2:219418457-219418457
28 DES-LCR , DES NM_001927.4(DES):c.-74C>T SNV Uncertain significance 334449 rs886055653 GRCh37: 2:220283111-220283111
GRCh38: 2:219418389-219418389
29 DES NM_001927.4(DES):c.635G>A (p.Arg212Gln) SNV Uncertain significance 178015 rs144261171 GRCh37: 2:220284873-220284873
GRCh38: 2:219420151-219420151
30 DES NM_001927.4(DES):c.*428G>C SNV Uncertain significance 334452 rs886055654 GRCh37: 2:220291140-220291140
GRCh38: 2:219426418-219426418
31 DES NM_001927.4(DES):c.924C>T (p.Asn308=) SNV Uncertain significance 283467 rs578191306 GRCh37: 2:220285576-220285576
GRCh38: 2:219420854-219420854
32 DES NM_001927.4(DES):c.18G>A (p.Ser6=) SNV Uncertain significance 44255 rs199972656 GRCh37: 2:220283202-220283202
GRCh38: 2:219418480-219418480
33 DES NM_001927.4(DES):c.1026C>T (p.Asn342=) SNV Likely benign 44243 rs61731508 GRCh37: 2:220286064-220286064
GRCh38: 2:219421342-219421342
34 DES-LCR , DES NM_001927.4(DES):c.-44G>A SNV Likely benign 201698 rs184826121 GRCh37: 2:220283141-220283141
GRCh38: 2:219418419-219418419
35 DES NM_001927.4(DES):c.408C>T (p.Leu136=) SNV Likely benign 44262 rs111828114 GRCh37: 2:220283592-220283592
GRCh38: 2:219418870-219418870
36 DES NM_001927.4(DES):c.372G>A (p.Glu124=) SNV Likely benign 44258 rs34365369 GRCh37: 2:220283556-220283556
GRCh38: 2:219418834-219418834
37 DES NM_001927.4(DES):c.*468G>T SNV Likely benign 334453 rs73085265 GRCh37: 2:220291180-220291180
GRCh38: 2:219426458-219426458
38 DES NM_001927.4(DES):c.665G>A (p.Arg222His) SNV Likely benign 178016 rs367961979 GRCh37: 2:220284998-220284998
GRCh38: 2:219420276-219420276
39 DES NM_001927.4(DES):c.*662G>A SNV Likely benign 334457 rs116635264 GRCh37: 2:220291374-220291374
GRCh38: 2:219426652-219426652
40 DES NM_001927.4(DES):c.792C>T (p.Asp264=) SNV Likely benign 44271 rs150370918 GRCh37: 2:220285273-220285273
GRCh38: 2:219420551-219420551
41 DES NM_001927.4(DES):c.669T>C (p.Ile223=) SNV Likely benign 36001 rs75882680 GRCh37: 2:220285002-220285002
GRCh38: 2:219420280-219420280
42 DES NM_001927.4(DES):c.*51C>A SNV Likely benign 898564 GRCh37: 2:220290763-220290763
GRCh38: 2:219426041-219426041
43 DES NM_001927.4(DES):c.*475T>G SNV Likely benign 898621 GRCh37: 2:220291187-220291187
GRCh38: 2:219426465-219426465
44 DES NM_001927.4(DES):c.897+4_897+5del Deletion Likely benign 44273 rs397516699 GRCh37: 2:220285381-220285382
GRCh38: 2:219420659-219420660
45 DES NM_001927.4(DES):c.1375G>A (p.Val459Ile) SNV Likely benign 44252 rs73991549 GRCh37: 2:220290674-220290674
GRCh38: 2:219425952-219425952
46 DES NM_001927.4(DES):c.638C>T (p.Ala213Val) SNV Likely benign 44265 rs41272699 GRCh37: 2:220284876-220284876
GRCh38: 2:219420154-219420154
47 DES NM_001927.4(DES):c.75A>G (p.Pro25=) SNV Benign 36002 rs1318299 GRCh37: 2:220283259-220283259
GRCh38: 2:219418537-219418537
48 DES NM_001927.4(DES):c.828C>T (p.Asp276=) SNV Benign 44272 rs1058261 GRCh37: 2:220285309-220285309
GRCh38: 2:219420587-219420587
49 DES NM_001927.4(DES):c.1104G>A (p.Ala368=) SNV Benign 44245 rs1058284 GRCh37: 2:220286142-220286142
GRCh38: 2:219421420-219421420
50 DES NM_001927.4(DES):c.1014G>C (p.Leu338=) SNV Benign 44242 rs12920 GRCh37: 2:220285666-220285666
GRCh38: 2:219420944-219420944

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

72
# Symbol AA change Variation ID SNP ID
1 DES p.Ile451Met VAR_018773 rs121913002
2 DES p.Ala120Asp VAR_075228
3 DES p.Leu136Pro VAR_075229 rs397516695

Expression for Cardiomyopathy, Dilated, 1i

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

Pathways for Cardiomyopathy, Dilated, 1i

GO Terms for Cardiomyopathy, Dilated, 1i

Sources for Cardiomyopathy, Dilated, 1i

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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28 GO
29 GTR
30 HMDB
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32 ICD10
33 ICD10 via Orphanet
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44 MeSH
45 MESH via Orphanet
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49 NCI
50 NCIt
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53 NINDS
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56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
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71 UMLS via Orphanet
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