CMD1U
MCID: CRD112
MIFTS: 23

Cardiomyopathy, Dilated, 1u (CMD1U)

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

Aliases & Classifications for Cardiomyopathy, Dilated, 1u

MalaCards integrated aliases for Cardiomyopathy, Dilated, 1u:

Name: Cardiomyopathy, Dilated, 1u 57 29 13 6 70
Cmd1u 57 12 72
Cardiomyopathy, Dilated 1u 72
Dilated Cardiomyopathy 1u 12

Characteristics:

OMIM®:

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


HPO:

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


Classifications:



External Ids:

Disease Ontology 12 DOID:0110455
OMIM® 57 613694
OMIM Phenotypic Series 57 PS115200
MeSH 44 D002311
ICD10 32 I42.0
MedGen 41 C3160720
UMLS 70 C3160720

Summaries for Cardiomyopathy, Dilated, 1u

UniProtKB/Swiss-Prot : 72 Cardiomyopathy, dilated 1U: 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, 1u, is also known as cmd1u, and has symptoms including syncope An important gene associated with Cardiomyopathy, Dilated, 1u is PSEN1 (Presenilin 1). 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 PSEN1 gene on chromosome 14q24.3.

More information from OMIM: 613694 PS115200

Symptoms & Phenotypes for Cardiomyopathy, Dilated, 1u

Human phenotypes related to Cardiomyopathy, Dilated, 1u:

31
# Description HPO Frequency HPO Source Accession
1 congestive heart failure 31 HP:0001635
2 dilated cardiomyopathy 31 HP:0001644
3 syncope 31 HP:0001279

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Cardiovascular Heart:
syncope
heart failure
cardiomyopathy, dilated
ejection fraction decreased

Clinical features from OMIM®:

613694 (Updated 20-May-2021)

UMLS symptoms related to Cardiomyopathy, Dilated, 1u:


syncope

Drugs & Therapeutics for Cardiomyopathy, Dilated, 1u

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

Genetic Tests for Cardiomyopathy, Dilated, 1u

Genetic tests related to Cardiomyopathy, Dilated, 1u:

# Genetic test Affiliating Genes
1 Cardiomyopathy, Dilated, 1u 29 PSEN1

Anatomical Context for Cardiomyopathy, Dilated, 1u

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

40
Heart

Publications for Cardiomyopathy, Dilated, 1u

Articles related to Cardiomyopathy, Dilated, 1u:

# Title Authors PMID Year
1
Mutations of presenilin genes in dilated cardiomyopathy and heart failure. 57 6
17186461 2006

Variations for Cardiomyopathy, Dilated, 1u

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

6 (show top 50) (show all 122)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PSEN1 NM_000021.4(PSEN1):c.998A>G (p.Asp333Gly) SNV Pathogenic 18156 rs121917809 GRCh37: 14:73678519-73678519
GRCh38: 14:73211811-73211811
2 PSEN1 NM_000021.4(PSEN1):c.691G>A (p.Ala231Thr) SNV Likely pathogenic 98065 rs63749836 GRCh37: 14:73659494-73659494
GRCh38: 14:73192786-73192786
3 PSEN1 NM_000021.4(PSEN1):c.1276G>C (p.Ala426Pro) SNV Likely pathogenic 18136 rs63751223 GRCh37: 14:73685869-73685869
GRCh38: 14:73219161-73219161
4 PSEN1 NM_000021.4(PSEN1):c.792G>T (p.Pro264=) SNV Uncertain significance 723135 rs150301281 GRCh37: 14:73664761-73664761
GRCh38: 14:73198053-73198053
5 PSEN1 NM_000021.4(PSEN1):c.1078G>A (p.Ala360Thr) SNV Uncertain significance 643888 rs199715992 GRCh37: 14:73678599-73678599
GRCh38: 14:73211891-73211891
6 PSEN1 NM_000021.4(PSEN1):c.*1958T>C SNV Uncertain significance 313977 rs779158922 GRCh37: 14:73687955-73687955
GRCh38: 14:73221247-73221247
7 PSEN1 NM_000021.4(PSEN1):c.*4339T>C SNV Uncertain significance 314009 rs757221245 GRCh37: 14:73690336-73690336
GRCh38: 14:73223628-73223628
8 PSEN1 NM_000021.4(PSEN1):c.*119T>C SNV Uncertain significance 313952 rs201908084 GRCh37: 14:73686116-73686116
GRCh38: 14:73219408-73219408
9 PSEN1 NM_000021.4(PSEN1):c.*2161G>A SNV Uncertain significance 313980 rs535590491 GRCh37: 14:73688158-73688158
GRCh38: 14:73221450-73221450
10 PSEN1 NM_000021.4(PSEN1):c.*3484A>C SNV Uncertain significance 884731 GRCh37: 14:73689481-73689481
GRCh38: 14:73222773-73222773
11 PSEN1 NM_000021.4(PSEN1):c.*4113G>A SNV Uncertain significance 885730 GRCh37: 14:73690110-73690110
GRCh38: 14:73223402-73223402
12 PSEN1 NM_000021.4(PSEN1):c.-201A>C SNV Uncertain significance 886374 GRCh37: 14:73603226-73603226
GRCh38: 14:73136518-73136518
13 PSEN1 NM_000021.4(PSEN1):c.*562T>C SNV Uncertain significance 886434 GRCh37: 14:73686559-73686559
GRCh38: 14:73219851-73219851
14 PSEN1 NM_000021.4(PSEN1):c.*657C>T SNV Uncertain significance 886435 GRCh37: 14:73686654-73686654
GRCh38: 14:73219946-73219946
15 PSEN1 NM_000021.4(PSEN1):c.*1484A>C SNV Uncertain significance 886494 GRCh37: 14:73687481-73687481
GRCh38: 14:73220773-73220773
16 PSEN1 NM_000021.4(PSEN1):c.*1625A>G SNV Uncertain significance 886495 GRCh37: 14:73687622-73687622
GRCh38: 14:73220914-73220914
17 PSEN1 NM_000021.4(PSEN1):c.*2017A>T SNV Uncertain significance 886561 GRCh37: 14:73688014-73688014
GRCh38: 14:73221306-73221306
18 PSEN1 NM_000021.4(PSEN1):c.*2846G>A SNV Uncertain significance 886629 GRCh37: 14:73688843-73688843
GRCh38: 14:73222135-73222135
19 PSEN1 NM_000021.4(PSEN1):c.*4338A>G SNV Uncertain significance 886734 GRCh37: 14:73690335-73690335
GRCh38: 14:73223627-73223627
20 PSEN1 NM_000021.4(PSEN1):c.80G>A (p.Arg27His) SNV Uncertain significance 887368 GRCh37: 14:73614807-73614807
GRCh38: 14:73148099-73148099
21 PSEN1 NM_000021.4(PSEN1):c.125G>A (p.Arg42Gln) SNV Uncertain significance 887369 GRCh37: 14:73637542-73637542
GRCh38: 14:73170834-73170834
22 PSEN1 NM_000021.4(PSEN1):c.375G>C (p.Val125=) SNV Uncertain significance 887565 GRCh37: 14:73640310-73640310
GRCh38: 14:73173602-73173602
23 PSEN1 NM_000021.4(PSEN1):c.*166T>A SNV Uncertain significance 887626 GRCh37: 14:73686163-73686163
GRCh38: 14:73219455-73219455
24 PSEN1 NM_000021.4(PSEN1):c.*229C>T SNV Uncertain significance 887627 GRCh37: 14:73686226-73686226
GRCh38: 14:73219518-73219518
25 PSEN1 NM_000021.4(PSEN1):c.*230G>T SNV Uncertain significance 887628 GRCh37: 14:73686227-73686227
GRCh38: 14:73219519-73219519
26 PSEN1 NM_000021.4(PSEN1):c.*801C>T SNV Uncertain significance 887684 GRCh37: 14:73686798-73686798
GRCh38: 14:73220090-73220090
27 PSEN1 NM_000021.4(PSEN1):c.*807G>A SNV Uncertain significance 887685 GRCh37: 14:73686804-73686804
GRCh38: 14:73220096-73220096
28 PSEN1 NM_000021.4(PSEN1):c.*2357T>A SNV Uncertain significance 887815 GRCh37: 14:73688354-73688354
GRCh38: 14:73221646-73221646
29 PSEN1 NM_000021.4(PSEN1):c.*3130C>T SNV Uncertain significance 887876 GRCh37: 14:73689127-73689127
GRCh38: 14:73222419-73222419
30 PSEN1 NM_000021.4(PSEN1):c.*3321G>C SNV Uncertain significance 887877 GRCh37: 14:73689318-73689318
GRCh38: 14:73222610-73222610
31 PSEN1 NM_000021.4(PSEN1):c.*3669G>A SNV Uncertain significance 887940 GRCh37: 14:73689666-73689666
GRCh38: 14:73222958-73222958
32 PSEN1 NM_000021.4(PSEN1):c.*3789G>A SNV Uncertain significance 887941 GRCh37: 14:73689786-73689786
GRCh38: 14:73223078-73223078
33 PSEN1 NM_000021.4(PSEN1):c.79C>T (p.Arg27Cys) SNV Uncertain significance 313945 rs886050663 GRCh37: 14:73614806-73614806
GRCh38: 14:73148098-73148098
34 PSEN1 NM_000021.4(PSEN1):c.654A>G (p.Pro218=) SNV Uncertain significance 313947 rs115760359 GRCh37: 14:73659457-73659457
GRCh38: 14:73192749-73192749
35 PSEN1 NM_000021.4(PSEN1):c.1017A>G (p.Glu339=) SNV Uncertain significance 254713 rs201776669 GRCh37: 14:73678538-73678538
GRCh38: 14:73211830-73211830
36 PSEN1 NM_000021.4(PSEN1):c.1002C>T (p.Gly334=) SNV Uncertain significance 313948 rs116640707 GRCh37: 14:73678523-73678523
GRCh38: 14:73211815-73211815
37 PSEN1 NM_000021.4(PSEN1):c.*3495A>G SNV Uncertain significance 313995 rs141799841 GRCh37: 14:73689492-73689492
GRCh38: 14:73222784-73222784
38 PSEN1 NM_000021.4(PSEN1):c.*1360G>C SNV Uncertain significance 313963 rs886050667 GRCh37: 14:73687357-73687357
GRCh38: 14:73220649-73220649
39 PSEN1 NM_000021.4(PSEN1):c.*2633G>A SNV Uncertain significance 313986 rs564490926 GRCh37: 14:73688630-73688630
GRCh38: 14:73221922-73221922
40 PSEN1 NM_000021.4(PSEN1):c.*2758T>G SNV Uncertain significance 313988 rs886050677 GRCh37: 14:73688755-73688755
GRCh38: 14:73222047-73222047
41 PSEN1 NM_000021.4(PSEN1):c.*2865C>A SNV Uncertain significance 313991 rs886050679 GRCh37: 14:73688862-73688862
GRCh38: 14:73222154-73222154
42 PSEN1 NM_000021.4(PSEN1):c.*2108G>A SNV Uncertain significance 313978 rs368329004 GRCh37: 14:73688105-73688105
GRCh38: 14:73221397-73221397
43 PSEN1 NM_000021.4(PSEN1):c.*1626C>A SNV Uncertain significance 313969 rs886050669 GRCh37: 14:73687623-73687623
GRCh38: 14:73220915-73220915
44 PSEN1 NM_000021.4(PSEN1):c.*3848G>C SNV Uncertain significance 314002 rs886050682 GRCh37: 14:73689845-73689845
GRCh38: 14:73223137-73223137
45 PSEN1 NM_000021.4(PSEN1):c.*1380C>T SNV Uncertain significance 313964 rs181825217 GRCh37: 14:73687377-73687377
GRCh38: 14:73220669-73220669
46 PSEN1 NM_000021.4(PSEN1):c.21G>A (p.Pro7=) SNV Uncertain significance 313944 rs116466962 GRCh37: 14:73614748-73614748
GRCh38: 14:73148040-73148040
47 PSEN1 NM_000021.4(PSEN1):c.*3941C>A SNV Uncertain significance 314004 rs144455736 GRCh37: 14:73689938-73689938
GRCh38: 14:73223230-73223230
48 PSEN1 NM_000021.4(PSEN1):c.*1725A>G SNV Uncertain significance 313972 rs886050671 GRCh37: 14:73687722-73687722
GRCh38: 14:73221014-73221014
49 PSEN1 NM_000021.4(PSEN1):c.*2330G>T SNV Uncertain significance 313982 rs886050675 GRCh37: 14:73688327-73688327
GRCh38: 14:73221619-73221619
50 PSEN1 NM_000021.4(PSEN1):c.*71A>G SNV Uncertain significance 313951 rs201452973 GRCh37: 14:73686068-73686068
GRCh38: 14:73219360-73219360

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

72
# Symbol AA change Variation ID SNP ID
1 PSEN1 p.Asp333Gly VAR_064902 rs121917809

Expression for Cardiomyopathy, Dilated, 1u

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

Pathways for Cardiomyopathy, Dilated, 1u

GO Terms for Cardiomyopathy, Dilated, 1u

Sources for Cardiomyopathy, Dilated, 1u

3 CDC
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11 DGIdb
17 EFO
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30 HMDB
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45 MESH via Orphanet
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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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