CMD1V
MCID: CRD113
MIFTS: 23

Cardiomyopathy, Dilated, 1v (CMD1V)

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

Aliases & Classifications for Cardiomyopathy, Dilated, 1v

MalaCards integrated aliases for Cardiomyopathy, Dilated, 1v:

Name: Cardiomyopathy, Dilated, 1v 57 13 70
Dilated Cardiomyopathy 1v 12 29 6
Cmd1v 57 12 72
Cardiomyopathy, Dilated, Type 1v 39
Cardiomyopathy, Dilated 1v 72

Characteristics:

OMIM®:

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

Miscellaneous:
mutations show partial penetrance
milder disease with a more favorable prognosis than cmd1u due to psen1 mutations


HPO:

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


Classifications:



External Ids:

Disease Ontology 12 DOID:0110427
OMIM® 57 613697
OMIM Phenotypic Series 57 PS115200
MeSH 44 D002311
ICD10 32 I42.0
MedGen 41 C3150958
UMLS 70 C3150958

Summaries for Cardiomyopathy, Dilated, 1v

UniProtKB/Swiss-Prot : 72 Cardiomyopathy, dilated 1V: 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, 1v, is also known as dilated cardiomyopathy 1v, and has symptoms including syncope An important gene associated with Cardiomyopathy, Dilated, 1v is PSEN2 (Presenilin 2). 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 PSEN2 gene on chromosome 1q31-q42.

More information from OMIM: 613697 PS115200

Symptoms & Phenotypes for Cardiomyopathy, Dilated, 1v

Human phenotypes related to Cardiomyopathy, Dilated, 1v:

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®:

613697 (Updated 20-May-2021)

UMLS symptoms related to Cardiomyopathy, Dilated, 1v:


syncope

Drugs & Therapeutics for Cardiomyopathy, Dilated, 1v

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

Genetic Tests for Cardiomyopathy, Dilated, 1v

Genetic tests related to Cardiomyopathy, Dilated, 1v:

# Genetic test Affiliating Genes
1 Dilated Cardiomyopathy 1v 29 PSEN2

Anatomical Context for Cardiomyopathy, Dilated, 1v

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

40
Heart

Publications for Cardiomyopathy, Dilated, 1v

Articles related to Cardiomyopathy, Dilated, 1v:

# Title Authors PMID Year
1
Mutations of presenilin genes in dilated cardiomyopathy and heart failure. 57 6
17186461 2006
2
Identification of new presenilin gene mutations in early-onset familial Alzheimer disease. 57 6
14623725 2003

Variations for Cardiomyopathy, Dilated, 1v

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

6 (show top 50) (show all 61)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PSEN2 NM_000447.3(PSEN2):c.38T>C (p.Val13Ala) SNV Uncertain significance 295987 rs766853710 GRCh37: 1:227069646-227069646
GRCh38: 1:226881945-226881945
2 PSEN2 NM_000447.3(PSEN2):c.*120G>A SNV Uncertain significance 295999 rs143059995 GRCh37: 1:227083400-227083400
GRCh38: 1:226895699-226895699
3 PSEN2 NM_000447.3(PSEN2):c.410A>G (p.Asn137Ser) SNV Uncertain significance 295990 rs749301595 GRCh37: 1:227073292-227073292
GRCh38: 1:226885591-226885591
4 PSEN2 NM_000447.3(PSEN2):c.*377C>T SNV Uncertain significance 296003 rs202160009 GRCh37: 1:227083657-227083657
GRCh38: 1:226895956-226895956
5 PSEN2 NM_000447.3(PSEN2):c.222C>G (p.Gly74=) SNV Uncertain significance 295988 rs773522773 GRCh37: 1:227071486-227071486
GRCh38: 1:226883785-226883785
6 PSEN2 NM_000447.3(PSEN2):c.-144A>G SNV Uncertain significance 295984 rs886046061 GRCh37: 1:227063128-227063128
GRCh38: 1:226875427-226875427
7 PSEN2 NM_000447.3(PSEN2):c.690C>G (p.Ala230=) SNV Uncertain significance 295991 rs145010538 GRCh37: 1:227076653-227076653
GRCh38: 1:226888952-226888952
8 PSEN2 NM_000447.3(PSEN2):c.*103C>T SNV Uncertain significance 295998 rs571670427 GRCh37: 1:227083383-227083383
GRCh38: 1:226895682-226895682
9 PSEN2 NM_000447.3(PSEN2):c.*306G>A SNV Uncertain significance 296002 rs145129440 GRCh37: 1:227083586-227083586
GRCh38: 1:226895885-226895885
10 PSEN2 NM_000447.3(PSEN2):c.954C>T (p.Pro318=) SNV Uncertain significance 295994 rs199587016 GRCh37: 1:227079046-227079046
GRCh38: 1:226891345-226891345
11 PSEN2 NM_000447.3(PSEN2):c.1077C>T (p.Gly359=) SNV Uncertain significance 295995 rs753503617 GRCh37: 1:227081712-227081712
GRCh38: 1:226894011-226894011
12 PSEN2 NM_000447.3(PSEN2):c.*72T>C SNV Uncertain significance 295997 rs886046062 GRCh37: 1:227083352-227083352
GRCh38: 1:226895651-226895651
13 PSEN2 NM_000447.3(PSEN2):c.336C>T (p.Tyr112=) SNV Uncertain significance 295989 rs200610057 GRCh37: 1:227071600-227071600
GRCh38: 1:226883899-226883899
14 PSEN2 NM_000447.3(PSEN2):c.-82T>C SNV Uncertain significance 295985 rs200607063 GRCh37: 1:227063190-227063190
GRCh38: 1:226875489-226875489
15 PSEN2 NM_000447.3(PSEN2):c.-278C>T SNV Uncertain significance 295982 rs199532840 GRCh37: 1:227059034-227059034
GRCh38: 1:226871333-226871333
16 PSEN2 NM_000447.3(PSEN2):c.*20G>A SNV Uncertain significance 295996 rs201399057 GRCh37: 1:227083300-227083300
GRCh38: 1:226895599-226895599
17 PSEN2 NM_000447.3(PSEN2):c.937G>A (p.Gly313Ser) SNV Uncertain significance 295993 rs756225509 GRCh37: 1:227079029-227079029
GRCh38: 1:226891328-226891328
18 PSEN2 NM_000447.3(PSEN2):c.*132T>C SNV Uncertain significance 296000 rs186288674 GRCh37: 1:227083412-227083412
GRCh38: 1:226895711-226895711
19 PSEN2 NM_000447.3(PSEN2):c.205C>G (p.Pro69Ala) SNV Uncertain significance 191771 rs202133351 GRCh37: 1:227071469-227071469
GRCh38: 1:226883768-226883768
20 PSEN2 NM_000447.3(PSEN2):c.-278C>A SNV Uncertain significance 874391 GRCh37: 1:227059034-227059034
GRCh38: 1:226871333-226871333
21 PSEN2 NM_000447.3(PSEN2):c.711G>A (p.Ala237=) SNV Uncertain significance 874474 GRCh37: 1:227076674-227076674
GRCh38: 1:226888973-226888973
22 PSEN2 NM_000447.3(PSEN2):c.729C>G (p.Phe243Leu) SNV Uncertain significance 874475 GRCh37: 1:227076692-227076692
GRCh38: 1:226888991-226888991
23 PSEN2 NM_000447.3(PSEN2):c.754G>A (p.Ala252Thr) SNV Uncertain significance 705974 rs138836272 GRCh37: 1:227076717-227076717
GRCh38: 1:226889016-226889016
24 PSEN2 NM_000447.3(PSEN2):c.927C>T (p.Pro309=) SNV Uncertain significance 874529 GRCh37: 1:227079019-227079019
GRCh38: 1:226891318-226891318
25 PSEN2 NM_000447.3(PSEN2):c.*210G>A SNV Uncertain significance 874589 GRCh37: 1:227083490-227083490
GRCh38: 1:226895789-226895789
26 PSEN2 NM_000447.3(PSEN2):c.*284T>A SNV Uncertain significance 874590 GRCh37: 1:227083564-227083564
GRCh38: 1:226895863-226895863
27 PSEN2 NM_000447.3(PSEN2):c.-184C>T SNV Uncertain significance 875307 GRCh37: 1:227063088-227063088
GRCh38: 1:226875387-226875387
28 PSEN2 NM_000447.3(PSEN2):c.300C>T (p.Ile100=) SNV Uncertain significance 706267 rs200801915 GRCh37: 1:227071564-227071564
GRCh38: 1:226883863-226883863
29 PSEN2 NM_000447.3(PSEN2):c.*378G>C SNV Uncertain significance 875518 GRCh37: 1:227083658-227083658
GRCh38: 1:226895957-226895957
30 PSEN2 NM_000447.3(PSEN2):c.-136G>A SNV Uncertain significance 876264 GRCh37: 1:227063136-227063136
GRCh38: 1:226875435-226875435
31 PSEN2 NM_000447.3(PSEN2):c.100G>A (p.Gly34Ser) SNV Uncertain significance 721218 rs200636353 GRCh37: 1:227069708-227069708
GRCh38: 1:226882007-226882007
32 PSEN2 NM_000447.3(PSEN2):c.1177G>A (p.Val393Met) SNV Uncertain significance 875452 GRCh37: 1:227081812-227081812
GRCh38: 1:226894111-226894111
33 PSEN2 NM_000447.3(PSEN2):c.1245C>T (p.Ala415=) SNV Uncertain significance 876472 GRCh37: 1:227083178-227083178
GRCh38: 1:226895477-226895477
34 PSEN2 NM_000447.3(PSEN2):c.1262C>T (p.Thr421Met) SNV Uncertain significance 876473 GRCh37: 1:227083195-227083195
GRCh38: 1:226895494-226895494
35 PSEN2 NM_000447.3(PSEN2):c.1304G>A (p.Arg435Gln) SNV Uncertain significance 876474 GRCh37: 1:227083237-227083237
GRCh38: 1:226895536-226895536
36 PSEN2 NM_000447.3(PSEN2):c.1308G>A (p.Pro436=) SNV Uncertain significance 873585 GRCh37: 1:227083241-227083241
GRCh38: 1:226895540-226895540
37 PSEN2 NM_000447.3(PSEN2):c.*479G>T SNV Uncertain significance 876526 GRCh37: 1:227083759-227083759
GRCh38: 1:226896058-226896058
38 PSEN2 NM_000447.3(PSEN2):c.149A>G (p.Gln50Arg) SNV Likely benign 180476 rs143501870 GRCh37: 1:227071413-227071413
GRCh38: 1:226883712-226883712
39 PSEN2 NM_000447.3(PSEN2):c.639A>G (p.Ala213=) SNV Likely benign 743080 rs555809980 GRCh37: 1:227076602-227076602
GRCh38: 1:226888901-226888901
40 PSEN2 NM_000447.3(PSEN2):c.415G>A (p.Val139Met) SNV Likely benign 448149 rs202178897 GRCh37: 1:227073297-227073297
GRCh38: 1:226885596-226885596
41 PSEN2 NM_000447.3(PSEN2):c.1176C>T (p.Phe392=) SNV Likely benign 533782 rs115652716 GRCh37: 1:227081811-227081811
GRCh38: 1:226894110-226894110
42 PSEN2 NM_000447.3(PSEN2):c.132T>A (p.Thr44=) SNV Likely benign 533780 rs143227762 GRCh37: 1:227069740-227069740
GRCh38: 1:226882039-226882039
43 PSEN2 NM_000447.3(PSEN2):c.*405G>T SNV Likely benign 296004 rs116807339 GRCh37: 1:227083685-227083685
GRCh38: 1:226895984-226895984
44 PSEN2 NM_000447.3(PSEN2):c.756G>C (p.Ala252=) SNV Likely benign 256186 rs147702142 GRCh37: 1:227076719-227076719
GRCh38: 1:226889018-226889018
45 PSEN2 NM_000447.3(PSEN2):c.-338A>G SNV Likely benign 295981 rs6665033 GRCh37: 1:227058974-227058974
GRCh38: 1:226871273-226871273
46 PSEN2 NM_000447.3(PSEN2):c.861C>T (p.Pro287=) SNV Likely benign 295992 rs75733498 GRCh37: 1:227077809-227077809
GRCh38: 1:226890108-226890108
47 PSEN2 NM_000447.3(PSEN2):c.903G>T (p.Thr301=) SNV Likely benign 256187 rs6426553 GRCh37: 1:227078995-227078995
GRCh38: 1:226891294-226891294
48 PSEN2 NM_000447.3(PSEN2):c.*487G>C SNV Likely benign 296005 rs7962 GRCh37: 1:227083767-227083767
GRCh38: 1:226896066-226896066
49 PSEN2 NM_000447.3(PSEN2):c.185G>A (p.Arg62His) SNV Likely benign 97995 rs58973334 GRCh37: 1:227071449-227071449
GRCh38: 1:226883748-226883748
50 PSEN2 NM_000447.3(PSEN2):c.708T>C (p.Ser236=) SNV Likely benign 256185 rs61730652 GRCh37: 1:227076671-227076671
GRCh38: 1:226888970-226888970

Expression for Cardiomyopathy, Dilated, 1v

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

Pathways for Cardiomyopathy, Dilated, 1v

GO Terms for Cardiomyopathy, Dilated, 1v

Sources for Cardiomyopathy, Dilated, 1v

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
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35 IUPHAR
36 KEGG
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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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