CMD2A
MCID: CRD063
MIFTS: 28

Cardiomyopathy, Dilated, 2a (CMD2A)

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

Aliases & Classifications for Cardiomyopathy, Dilated, 2a

MalaCards integrated aliases for Cardiomyopathy, Dilated, 2a:

Name: Cardiomyopathy, Dilated, 2a 57 13 70
Dilated Cardiomyopathy 2a 12 29 6
Cmd2a 57 12 72
Cardiomyopathy, Congestive, Autosomal Recessive 57
Cardiomyopathy, Dilated, Autosomal Recessive 57
Autosomal Recessive Dilated Cardiomyopathy 17
Cardiomyopathy, Dilated, Type 2a 39
Cardiomyopathy, Dilated 2a 72

Characteristics:

OMIM®:

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

Miscellaneous:
onset in second decade


HPO:

31
cardiomyopathy, dilated, 2a:
Inheritance autosomal recessive inheritance
Onset and clinical course juvenile onset young adult onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0110460
OMIM® 57 611880
OMIM Phenotypic Series 57 PS115200
MeSH 44 D002311
ICD10 32 I42.0
MedGen 41 C2678474
UMLS 70 C2678474

Summaries for Cardiomyopathy, Dilated, 2a

UniProtKB/Swiss-Prot : 72 Cardiomyopathy, dilated 2A: 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, 2a, also known as dilated cardiomyopathy 2a, is related to atrial standstill 1 and dilated cardiomyopathy. An important gene associated with Cardiomyopathy, Dilated, 2a is TNNI3 (Troponin I3, Cardiac Type). Affiliated tissues include heart and brain, and related phenotypes are congestive heart failure and dilated cardiomyopathy

Disease Ontology : 12 A dilated cardiomyopathy that has material basis in mutation in the TNNI3 gene on chromosome 19q13.

More information from OMIM: 611880 PS115200

Related Diseases for Cardiomyopathy, Dilated, 2a

Diseases in the Rare Cardiomyopathy family:

Cardiomyopathy, Dilated, 1a Cardiomyopathy, Dilated, 3b
Cardiomyopathy, Dilated, 1b Cardiomyopathy, Dilated, 1e
Cardiomyopathy, Dilated, 1d Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1h Cardiomyopathy, Dilated, 1i
Cardiomyopathy, Dilated, 1j Cardiomyopathy, Dilated, 1k
Cardiomyopathy, Dilated, 1l Cardiomyopathy, Dilated, 1m
Cardiomyopathy, Dilated, 1o Cardiomyopathy, Dilated, 1p
Cardiomyopathy, Dilated, 1q Cardiomyopathy, Dilated, 1w
Cardiomyopathy, Dilated, 1x Cardiomyopathy, Dilated, 1z
Cardiomyopathy, Dilated, 2a Cardiomyopathy, Dilated, 1bb
Cardiomyopathy, Dilated, 1cc Cardiomyopathy, Dilated, 1dd
Cardiomyopathy, Dilated, 1ee Cardiomyopathy, Dilated, 1ff
Cardiomyopathy, Dilated, 1r Cardiomyopathy, Dilated, 1gg
Cardiomyopathy, Dilated, 1u Cardiomyopathy, Dilated, 1v
Cardiomyopathy, Dilated, 1hh Cardiomyopathy, Dilated, 2b
Cardiomyopathy, Dilated, 1ii Cardiomyopathy, Dilated, 1jj
Cardiomyopathy, Dilated, 1kk Cardiomyopathy, Dilated, 1nn
Cardiomyopathy, Dilated, 2c Autoimmune Cardiomyopathy
Dilated Cardiomyopathy 1t Dilated Cardiomyopathy
Lmna-Related Dilated Cardiomyopathy Cardiomyopathy Due to Anthracyclines

Diseases related to Cardiomyopathy, Dilated, 2a via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 atrial standstill 1 10.3
2 dilated cardiomyopathy 10.3
3 cardiac conduction defect 10.0
4 congenital disorder of glycosylation, type im 10.0
5 cardiomyopathy, dilated, 2b 10.0
6 cardiomyopathy, dilated, 2c 10.0
7 neurodegeneration with brain iron accumulation 10.0
8 congenital disorders of n-linked glycosylation and multiple pathway 10.0
9 familial isolated dilated cardiomyopathy 10.0

Graphical network of the top 20 diseases related to Cardiomyopathy, Dilated, 2a:



Diseases related to Cardiomyopathy, Dilated, 2a

Symptoms & Phenotypes for Cardiomyopathy, Dilated, 2a

Human phenotypes related to Cardiomyopathy, Dilated, 2a:

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Cardiovascular Heart:
congestive heart failure
cardiomyopathy, dilated

Clinical features from OMIM®:

611880 (Updated 20-May-2021)

Drugs & Therapeutics for Cardiomyopathy, Dilated, 2a

Search Clinical Trials , NIH Clinical Center for Cardiomyopathy, Dilated, 2a

Genetic Tests for Cardiomyopathy, Dilated, 2a

Genetic tests related to Cardiomyopathy, Dilated, 2a:

# Genetic test Affiliating Genes
1 Dilated Cardiomyopathy 2a 29 TNNI3

Anatomical Context for Cardiomyopathy, Dilated, 2a

MalaCards organs/tissues related to Cardiomyopathy, Dilated, 2a:

40
Heart, Brain

Publications for Cardiomyopathy, Dilated, 2a

Articles related to Cardiomyopathy, Dilated, 2a:

(show all 16)
# Title Authors PMID Year
1
Identification and functional characterization of cardiac troponin I as a novel disease gene in autosomal dominant dilated cardiomyopathy. 57 6
19590045 2009
2
Novel mutation in cardiac troponin I in recessive idiopathic dilated cardiomyopathy. 57 6
15070570 2004
3
Targeted panel sequencing in pediatric primary cardiomyopathy supports a critical role of TNNI3. 6
31568572 2019
4
High prevalence of Arginine to Glutamine substitution at 98, 141 and 162 positions in Troponin I (TNNI3) associated with hypertrophic cardiomyopathy among Indians. 6
22876777 2012
5
Sarcomere protein gene mutations in patients with apical hypertrophic cardiomyopathy. 6
21511876 2011
6
Cardiac troponin I mutations in Australian families with hypertrophic cardiomyopathy: clinical, genetic and functional consequences. 6
15698845 2005
7
Frequency and clinical expression of cardiac troponin I mutations in 748 consecutive families with hypertrophic cardiomyopathy. 6
15607392 2004
8
Prevalence and spectrum of thin filament mutations in an outpatient referral population with hypertrophic cardiomyopathy. 6
12860912 2003
9
Evidence for autosomal recessive inheritance of infantile dilated cardiomyopathy: studies from the Eastern Province of Saudi Arabia. 57
11102545 2000
10
Autosomal recessive inheritance of idiopathic dilated cardiomyopathy in a Madeira Portuguese kindred. 57
3594932 1987
11
FAMILIAL CARDIOMYOPATHY; WITH SPECIAL CONSIDERATION OF ELECTROCARDIOGRAPHIC AND VECTORCARDIOGRAPHIC FINDINGS. 57
14175529 1964
12
Familial cardiomyopathy. 57
13687796 1961
13
Biallelic loss-of-function in NRAP is a cause of recessive dilated cardiomyopathy. 61
33534821 2021
14
Mutations in PPCS, Encoding Phosphopantothenoylcysteine Synthetase, Cause Autosomal-Recessive Dilated Cardiomyopathy. 61
29754768 2018
15
Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation. 61
22242004 2011
16
Homozygosity mapping and exome sequencing reveal GATAD1 mutation in autosomal recessive dilated cardiomyopathy. 61
21965549 2011

Variations for Cardiomyopathy, Dilated, 2a

ClinVar genetic disease variations for Cardiomyopathy, Dilated, 2a:

6 (show all 34)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TNNI3 NM_000363.5(TNNI3):c.5C>T (p.Ala2Val) SNV Pathogenic 43397 rs397516359 GRCh37: 19:55668953-55668953
GRCh38: 19:55157585-55157585
2 TNNI3 NM_000363.5(TNNI3):c.485G>A (p.Arg162Gln) SNV Pathogenic 43389 rs397516354 GRCh37: 19:55665462-55665462
GRCh38: 19:55154094-55154094
3 TNNI3 NM_000363.5(TNNI3):c.434G>A (p.Arg145Gln) SNV Pathogenic 43384 rs397516349 GRCh37: 19:55665513-55665513
GRCh38: 19:55154145-55154145
4 TNNI3 NM_000363.5(TNNI3):c.204del (p.Arg69fs) Deletion Pathogenic 179447 rs727504872 GRCh37: 19:55667647-55667647
GRCh38: 19:55156279-55156279
5 TNNI3 NM_000363.5(TNNI3):c.356C>A (p.Thr119Asn) SNV Uncertain significance 43375 rs184709702 GRCh37: 19:55666125-55666125
GRCh38: 19:55154757-55154757
6 TNNI3 , DNAAF3 NM_001256715.2(DNAAF3):c.484C>A (p.Arg162Ser) SNV Uncertain significance 894094 GRCh37: 19:55673190-55673190
GRCh38: 19:55161822-55161822
7 TNNI3 NM_000363.5(TNNI3):c.109-15A>G SNV Uncertain significance 229330 rs779144176 GRCh37: 19:55668027-55668027
GRCh38: 19:55156659-55156659
8 TNNI3 , DNAAF3 NM_001256715.2(DNAAF3):c.1248G>A (p.Val416=) SNV Uncertain significance 257685 rs111250144 GRCh37: 19:55670808-55670808
GRCh38: 19:55159440-55159440
9 TNNI3 , DNAAF3 NM_001256715.2(DNAAF3):c.990C>T (p.Thr330=) SNV Uncertain significance 894093 GRCh37: 19:55672066-55672066
GRCh38: 19:55160698-55160698
10 TNNI3 NM_000363.5(TNNI3):c.466C>G (p.Gln156Glu) SNV Uncertain significance 894379 GRCh37: 19:55665481-55665481
GRCh38: 19:55154113-55154113
11 TNNI3 NM_000363.5(TNNI3):c.235C>T (p.Arg79Cys) SNV Uncertain significance 43367 rs3729712 GRCh37: 19:55667616-55667616
GRCh38: 19:55156248-55156248
12 DNAAF3 , TNNI3 NM_000363.5(TNNI3):c.204G>T (p.Arg68=) SNV Uncertain significance 43366 rs3729711 GRCh37: 19:55667647-55667647
GRCh38: 19:55156279-55156279
13 TNNI3 NM_000363.5(TNNI3):c.104C>A (p.Ala35Asp) SNV Uncertain significance 894052 GRCh37: 19:55668422-55668422
GRCh38: 19:55157054-55157054
14 TNNI3 NM_000363.5(TNNI3):c.373-4C>G SNV Uncertain significance 43378 rs2288530 GRCh37: 19:55665578-55665578
GRCh38: 19:55154210-55154210
15 TNNI3 NM_000363.5(TNNI3):c.143A>C (p.Gln48Pro) SNV Uncertain significance 264596 rs200720341 GRCh37: 19:55667978-55667978
GRCh38: 19:55156610-55156610
16 TNNI3 NM_000363.5(TNNI3):c.372+7C>T SNV Uncertain significance 165519 rs367809676 GRCh37: 19:55666102-55666102
GRCh38: 19:55154734-55154734
17 TNNI3 NM_000363.5(TNNI3):c.550-11C>T SNV Uncertain significance 330198 rs886054635 GRCh37: 19:55663296-55663296
GRCh38: 19:55151928-55151928
18 TNNI3 NM_000363.5(TNNI3):c.283-9C>T SNV Uncertain significance 330199 rs759922995 GRCh37: 19:55666207-55666207
GRCh38: 19:55154839-55154839
19 TNNI3 NM_000363.5(TNNI3):c.*35C>T SNV Uncertain significance 188677 rs375447438 GRCh37: 19:55663167-55663167
GRCh38: 19:55151799-55151799
20 TNNI3 NM_000363.5(TNNI3):c.151-6C>G SNV Uncertain significance 43363 rs377258542 GRCh37: 19:55667706-55667706
GRCh38: 19:55156338-55156338
21 TNNI3 NM_000363.5(TNNI3):c.-45C>T SNV Uncertain significance 893021 GRCh37: 19:55669002-55669002
GRCh38: 19:55157634-55157634
22 TNNI3 NM_000363.5(TNNI3):c.373-15C>G SNV Uncertain significance 43377 rs192630178 GRCh37: 19:55665589-55665589
GRCh38: 19:55154221-55154221
23 TNNI3 NM_000363.5(TNNI3):c.139T>C (p.Leu47=) SNV Uncertain significance 137685 rs587780967 GRCh37: 19:55667982-55667982
GRCh38: 19:55156614-55156614
24 TNNI3 NM_000363.5(TNNI3):c.-47C>T SNV Uncertain significance 188667 rs202159627 GRCh37: 19:55669004-55669004
GRCh38: 19:55157636-55157636
25 TNNI3 NM_000363.5(TNNI3):c.-98C>A SNV Uncertain significance 188666 GRCh37: 19:55669055-55669055
GRCh38: 19:55157687-55157687
26 TNNI3 NM_000363.5(TNNI3):c.*44A>G SNV Uncertain significance 893714 GRCh37: 19:55663158-55663158
GRCh38: 19:55151790-55151790
27 DNAAF3 , TNNI3 NM_000363.5(TNNI3):c.537G>A (p.Glu179=) SNV Uncertain significance 43391 rs3729841 GRCh37: 19:55665410-55665410
GRCh38: 19:55154042-55154042
28 TNNI3 NM_000363.5(TNNI3):c.273G>A (p.Ala91=) SNV Uncertain significance 43372 rs75491697 GRCh37: 19:55667578-55667578
GRCh38: 19:55156210-55156210
29 TNNI3 NM_000363.5(TNNI3):c.244C>T (p.Pro82Ser) SNV Likely benign 12421 rs77615401 GRCh37: 19:55667607-55667607
GRCh38: 19:55156239-55156239
30 DNAAF3 , TNNI3 NM_000363.5(TNNI3):c.150+13G>A SNV Likely benign 43362 rs73617692 GRCh37: 19:55667958-55667958
GRCh38: 19:55156590-55156590
31 TNNI3 NM_000363.5(TNNI3):c.198G>A (p.Glu66=) SNV Likely benign 43364 rs3729710 GRCh37: 19:55667653-55667653
GRCh38: 19:55156285-55156285
32 DNAAF3 , TNNI3 NM_000363.5(TNNI3):c.-35C>A SNV Likely benign 137687 rs3729707 GRCh37: 19:55668992-55668992
GRCh38: 19:55157624-55157624
33 DNAAF3 , TNNI3 NM_000363.5(TNNI3):c.25-8T>A SNV Benign 43371 rs3729836 GRCh37: 19:55668509-55668509
GRCh38: 19:55157141-55157141
34 DNAAF3 , TNNT1 , TNNI3 NM_000363.5(TNNI3):c.373-10= SNV Benign 36881 rs7252610 GRCh37: 19:55665584-55665584
GRCh38: 19:55154216-55154216

UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Dilated, 2a:

72
# Symbol AA change Variation ID SNP ID
1 TNNI3 p.Ala2Val VAR_043989 rs397516359

Expression for Cardiomyopathy, Dilated, 2a

Search GEO for disease gene expression data for Cardiomyopathy, Dilated, 2a.

Pathways for Cardiomyopathy, Dilated, 2a

GO Terms for Cardiomyopathy, Dilated, 2a

Sources for Cardiomyopathy, Dilated, 2a

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
Content
Loading form....