RCM1
MCID: CRD176
MIFTS: 41

Cardiomyopathy, Familial Restrictive, 1 (RCM1)

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Cardiomyopathy, Familial Restrictive, 1

MalaCards integrated aliases for Cardiomyopathy, Familial Restrictive, 1:

Name: Cardiomyopathy, Familial Restrictive, 1 56 71
Familial Restrictive Cardiomyopathy 1 12 29 6
Rcm1 56 12 73
Restrictive Cardiomyopathy 1 12 15
Cardiomyopathy, Restrictive, Familial, Type 1 39
Cardiomyopathy, Familial Restrictive 1 73
Rcm-1 17
Rcm 56

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
cardiomyopathy, familial restrictive, 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111425
OMIM 56 115210
OMIM Phenotypic Series 56 PS115210
MeSH 43 D002313
MedGen 41 C1861861
UMLS 71 C1861861

Summaries for Cardiomyopathy, Familial Restrictive, 1

UniProtKB/Swiss-Prot : 73 Cardiomyopathy, familial restrictive 1: 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, Familial Restrictive, 1, also known as familial restrictive cardiomyopathy 1, is related to restrictive cardiomyopathy and congenital methemoglobinemia. An important gene associated with Cardiomyopathy, Familial Restrictive, 1 is TNNI3 (Troponin I3, Cardiac Type), and among its related pathways/superpathways are Gene Expression and rRNA processing in the nucleus and cytosol. Affiliated tissues include heart and testes, and related phenotypes are left ventricular hypertrophy and left atrial enlargement

Disease Ontology : 12 A restrictive cardiomyopathy that has material basis in heterozygous mutation in TNNI3 on chromosome 19q13.42.

More information from OMIM: 115210 PS115210

Related Diseases for Cardiomyopathy, Familial Restrictive, 1

Diseases in the Restrictive Cardiomyopathy family:

Cardiomyopathy, Familial Restrictive, 1 Cardiomyopathy, Familial Restrictive, 2
Cardiomyopathy, Familial Restrictive, 3

Diseases related to Cardiomyopathy, Familial Restrictive, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 40)
# Related Disease Score Top Affiliating Genes
1 restrictive cardiomyopathy 32.6 TRMT112 TNNI3 NSUN5 NOP2 MYPN BUD23
2 congenital methemoglobinemia 11.8
3 rectum adenocarcinoma 10.5
4 cerebellar malformation 10.3
5 lentigines 10.2
6 disease of mental health 10.2
7 bowen-conradi syndrome 10.2 NSUN5 BUD23
8 lung cancer susceptibility 3 10.2
9 colon adenocarcinoma 10.2
10 adenocarcinoma 10.2
11 rhabdomyosarcoma 10.2
12 gas gangrene 10.1 TNNI3 SERPINA3
13 familial isolated restrictive cardiomyopathy 10.1 TNNI3 MYPN
14 arteries, anomalies of 10.1
15 atrial standstill 1 10.1
16 keratitis, hereditary 10.1
17 pityriasis rubra pilaris 10.1
18 triiodothyronine receptor auxiliary protein 10.1
19 hepatitis c virus 10.1
20 hyperlipoproteinemia, type iii 10.1
21 lipoprotein quantitative trait locus 10.1
22 adult t-cell leukemia 10.1
23 dry eye syndrome 10.1
24 hypertrophic cardiomyopathy 10.1
25 iron metabolism disease 10.1
26 amelanotic melanoma 10.1
27 t-cell lymphoblastic leukemia/lymphoma 10.1
28 lichen planus 10.1
29 alopecia 10.1
30 acanthamoeba keratitis 10.1
31 leukemia, t-cell, chronic 10.1
32 posttransplant acute limbic encephalitis 10.1
33 pulmonary artery disease 9.9 TNNI3 SERPINA3
34 pontocerebellar hypoplasia, type 2a 9.9 NSUN2 FTSJ1
35 dubowitz syndrome 9.5 NSUN7 NSUN6 NSUN5 NSUN4 NSUN2 BUD23
36 thiamine-responsive megaloblastic anemia syndrome 9.5 TRMT112 TRMT11 NSUN2 FTSJ1
37 williams-beuren syndrome 9.5 NSUN7 NSUN6 NSUN5 NSUN3 NOP2 BUD23
38 autosomal recessive non-syndromic intellectual disability 9.5 NSUN7 NSUN6 NSUN5 NSUN3 NSUN2 NOP2
39 robinow syndrome, autosomal dominant 1 9.4 NOP2 FTSJ3 FTSJ1
40 non-syndromic x-linked intellectual disability 9.1 NSUN2 FTSJ3 FTSJ1

Graphical network of the top 20 diseases related to Cardiomyopathy, Familial Restrictive, 1:



Diseases related to Cardiomyopathy, Familial Restrictive, 1

Symptoms & Phenotypes for Cardiomyopathy, Familial Restrictive, 1

Human phenotypes related to Cardiomyopathy, Familial Restrictive, 1:

31
# Description HPO Frequency HPO Source Accession
1 left ventricular hypertrophy 31 very rare (1%) HP:0001712
2 left atrial enlargement 31 very rare (1%) HP:0031295
3 sudden cardiac death 31 HP:0001645
4 ventriculomegaly 31 HP:0002119
5 restrictive cardiomyopathy 31 HP:0001723

Symptoms via clinical synopsis from OMIM:

56
Cardiac:
restrictive cardiomyopathy

Lab:
diastolic dysfunction and atrial enlargement without ventricular dilatation by echocardiography

Clinical features from OMIM:

115210

GenomeRNAi Phenotypes related to Cardiomyopathy, Familial Restrictive, 1 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00249-S 9.44 SERPINA3
2 Decreased viability GR00381-A-1 9.44 BMT2 NOP2
3 Decreased viability GR00386-A-1 9.44 MOB4 MYPN NSUN3 NSUN6
4 Decreased viability GR00402-S-2 9.44 BMT2 DIMT1 FTSJ3 NSUN6 RRP8 TRMT112

Drugs & Therapeutics for Cardiomyopathy, Familial Restrictive, 1

Search Clinical Trials , NIH Clinical Center for Cardiomyopathy, Familial Restrictive, 1

Genetic Tests for Cardiomyopathy, Familial Restrictive, 1

Genetic tests related to Cardiomyopathy, Familial Restrictive, 1:

# Genetic test Affiliating Genes
1 Familial Restrictive Cardiomyopathy 1 29 TNNI3

Anatomical Context for Cardiomyopathy, Familial Restrictive, 1

MalaCards organs/tissues related to Cardiomyopathy, Familial Restrictive, 1:

40
Heart, Testes

Publications for Cardiomyopathy, Familial Restrictive, 1

Articles related to Cardiomyopathy, Familial Restrictive, 1:

(show all 25)
# Title Authors PMID Year
1
Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations. 6 56
12531876 2003
2
HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). 6
21810866 2011
3
Clinical spectrum of restrictive cardiomyopathy in children. 56
11166616 2001
4
Troponin I: inhibitor or facilitator. 6
10098965 1999
5
Restrictive cardiomyopathy. 56
8995091 1997
6
Noonan's cardiomyopathy: a non-hypertrophic variant. 56
8043339 1994
7
Restrictive cardiomyopathy with complete atrioventricular block and distal myopathy with rimmed vacuoles. 56
8371486 1993
8
Familial cardiomyopathy with variable hypertrophic and restrictive features and common HLA haplotype. 56
1597356 1992
9
Primary restrictive cardiomyopathy: clinical and pathologic characteristics. 56
1918700 1991
10
Familial restrictive cardiomyopathy with atrioventricular block and skeletal myopathy. 56
2317404 1990
11
Familial restrictive cardiomyopathy. 56
2977941 1988
12
Role of Whole-exome Sequencing in Phenotype Classification and Clinical Treatment of Pediatric Restrictive Cardiomyopathy. 61
29176140 2017
13
Development and production of good manufacturing practice grade human embryonic stem cell lines as source material for clinical application. 61
27639108 2016
14
Derivation of the human embryonic stem cell line RCM1. 61
27346018 2016
15
Methylation of ribosomal RNA by NSUN5 is a conserved mechanism modulating organismal lifespan. 61
25635753 2015
16
A cluster of methylations in the domain IV of 25S rRNA is required for ribosome stability. 61
25125595 2014
17
Yeast Nop2 and Rcm1 methylate C2870 and C2278 of the 25S rRNA, respectively. 61
23913415 2013
18
The methyltransferase adaptor protein Trm112 is involved in biogenesis of both ribosomal subunits. 61
22956767 2012
19
Dielectrophoresis based discrimination of human embryonic stem cells from differentiating derivatives. 61
24339846 2012
20
A global circadian repressor controls antiphasic expression of metabolic genes in Neurospora. 61
22152473 2011
21
Clinically failed eggs as a source of normal human embryo stem cells. 61
19393594 2009
22
Production of retrovirus and adenovirus vectors for gene therapy: a comparative study using microcarrier and stationary cell culture. 61
12052081 2002
23
Identification and characterization of the Arabidopsis PHO1 gene involved in phosphate loading to the xylem. 61
11971143 2002
24
Back-priming of the RCM1 leucocyte-reduction filter: consequences for filtration efficacy. 61
11952986 2002
25
Sequence and transcript analysis of the nitrogenase structural gene operon (nifHDK) of Rhodobacter capsulatus: evidence for intramolecular processing of nifHDK mRNA. 61
7693551 1993

Variations for Cardiomyopathy, Familial Restrictive, 1

ClinVar genetic disease variations for Cardiomyopathy, Familial Restrictive, 1:

6 (show all 41) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TNNI3 NM_000363.5(TNNI3):c.569A>G (p.Asp190Gly)SNV Pathogenic 12423 rs104894728 19:55663266-55663266 19:55151898-55151898
2 TNNI3 NM_000363.5(TNNI3):c.575G>A (p.Arg192His)SNV Pathogenic 12424 rs104894729 19:55663260-55663260 19:55151892-55151892
3 TNNI3 NM_000363.5(TNNI3):c.532A>G (p.Lys178Glu)SNV Pathogenic 12425 rs104894730 19:55665415-55665415 19:55154047-55154047
4 TNNI3 NM_000363.5(TNNI3):c.433C>T (p.Arg145Trp)SNV Pathogenic 12426 rs104894724 19:55665514-55665514 19:55154146-55154146
5 TNNI3 NM_000363.5(TNNI3):c.431T>A (p.Leu144Gln)SNV Pathogenic 12428 rs121917760 19:55665516-55665516 19:55154148-55154148
6 TNNI3 NM_000363.5(TNNI3):c.434G>A (p.Arg145Gln)SNV Pathogenic/Likely pathogenic 43384 rs397516349 19:55665513-55665513 19:55154145-55154145
7 TNNI3 NM_000363.5(TNNI3):c.485G>A (p.Arg162Gln)SNV Pathogenic/Likely pathogenic 43389 rs397516354 19:55665462-55665462 19:55154094-55154094
8 CRYAB NM_001289808.2(CRYAB):c.326A>G (p.Asp109Gly)SNV Likely pathogenic 265829 rs1114167341 11:111779690-111779690 11:111908966-111908966
9 TNNI3 NM_000363.5(TNNI3):c.379G>T (p.Asp127Tyr)SNV Likely pathogenic 265828 rs1114167340 19:55665568-55665568 19:55154200-55154200
10 DNAAF3 , TNNI3 NM_001256715.2(DNAAF3):c.1248G>A (p.Val416=)SNV Conflicting interpretations of pathogenicity 257685 rs111250144 19:55670808-55670808 19:55159440-55159440
11 TNNI3 NM_000363.5(TNNI3):c.283-9C>TSNV Conflicting interpretations of pathogenicity 330199 rs759922995 19:55666207-55666207 19:55154839-55154839
12 TNNI3 NM_000363.5(TNNI3):c.508C>G (p.Arg170Gly)SNV Conflicting interpretations of pathogenicity 165517 rs727503504 19:55665439-55665439 19:55154071-55154071
13 TNNI3 NM_000363.5(TNNI3):c.372+7C>TSNV Conflicting interpretations of pathogenicity 165519 rs367809676 19:55666102-55666102 19:55154734-55154734
14 TNNI3 NM_000363.5(TNNI3):c.*35C>TSNV Conflicting interpretations of pathogenicity 188677 rs375447438 19:55663167-55663167 19:55151799-55151799
15 TNNI3 NM_000363.5(TNNI3):c.-47C>TSNV Conflicting interpretations of pathogenicity 188667 rs202159627 19:55669004-55669004 19:55157636-55157636
16 TNNI3 NM_000363.5(TNNI3):c.-98C>ASNV Conflicting interpretations of pathogenicity 188666 rs12973773 19:55669055-55669055 19:55157687-55157687
17 DNAAF3 , TNNI3 NM_000363.5(TNNI3):c.537G>A (p.Glu179=)SNV Conflicting interpretations of pathogenicity 43391 rs3729841 19:55665410-55665410 19:55154042-55154042
18 TNNI3 NM_000363.5(TNNI3):c.139T>C (p.Leu47=)SNV Conflicting interpretations of pathogenicity 137685 rs587780967 19:55667982-55667982 19:55156614-55156614
19 DNAAF3 , TNNI3 NM_000363.5(TNNI3):c.204G>T (p.Arg68=)SNV Conflicting interpretations of pathogenicity 43366 rs3729711 19:55667647-55667647 19:55156279-55156279
20 TNNI3 NM_000363.5(TNNI3):c.235C>T (p.Arg79Cys)SNV Conflicting interpretations of pathogenicity 43367 rs3729712 19:55667616-55667616 19:55156248-55156248
21 TNNI3 NM_000363.5(TNNI3):c.273G>A (p.Ala91=)SNV Conflicting interpretations of pathogenicity 43372 rs75491697 19:55667578-55667578 19:55156210-55156210
22 TNNI3 NM_000363.5(TNNI3):c.373-15C>GSNV Conflicting interpretations of pathogenicity 43377 rs192630178 19:55665589-55665589 19:55154221-55154221
23 TNNI3 NM_000363.5(TNNI3):c.373-4C>GSNV Conflicting interpretations of pathogenicity 43378 rs2288530 19:55665578-55665578 19:55154210-55154210
24 DNAAF3 , TNNI3 , TNNT1 NM_000363.5(TNNI3):c.373-10=SNV Conflicting interpretations of pathogenicity 36881 rs7252610 19:55665584-55665584 19:55154216-55154216
25 TNNI3 NM_000363.5(TNNI3):c.151-6C>GSNV Conflicting interpretations of pathogenicity 43363 rs377258542 19:55667706-55667706 19:55156338-55156338
26 TNNI3 NM_000363.5(TNNI3):c.511G>A (p.Ala171Thr)SNV Uncertain significance 12429 rs121917761 19:55665436-55665436 19:55154068-55154068
27 MYL3 NM_000258.3(MYL3):c.461G>A (p.Arg154His)SNV Uncertain significance 14062 rs104893749 3:46900985-46900985 3:46859495-46859495
28 TNNI3 NM_000363.5(TNNI3):c.627G>C (p.Glu209Asp)SNV Uncertain significance 545499 rs1555862947 19:55663208-55663208 19:55151840-55151840
29 TNNI3 NM_000363.5(TNNI3):c.*44A>GSNV Uncertain significance 893714 19:55663158-55663158 19:55151790-55151790
30 TNNI3 NM_000363.5(TNNI3):c.466C>G (p.Gln156Glu)SNV Uncertain significance 894379 19:55665481-55665481 19:55154113-55154113
31 TNNI3 NM_000363.5(TNNI3):c.104C>A (p.Ala35Asp)SNV Uncertain significance 894052 19:55668422-55668422 19:55157054-55157054
32 TNNI3 NM_000363.5(TNNI3):c.-45C>TSNV Uncertain significance 893021 19:55669002-55669002 19:55157634-55157634
33 TNNI3 NM_001256715.2(DNAAF3):c.990C>T (p.Thr330=)SNV Uncertain significance 894093 19:55672066-55672066 19:55160698-55160698
34 TNNI3 NM_001256715.2(DNAAF3):c.484C>A (p.Arg162Ser)SNV Uncertain significance 894094 19:55673190-55673190 19:55161822-55161822
35 TNNI3 NM_000363.5(TNNI3):c.109-15A>GSNV Uncertain significance 229330 rs779144176 19:55668027-55668027 19:55156659-55156659
36 TNNI3 NM_000363.5(TNNI3):c.550-11C>TSNV Uncertain significance 330198 rs886054635 19:55663296-55663296 19:55151928-55151928
37 DNAAF3 , TNNI3 NM_000363.5(TNNI3):c.25-8T>ASNV Benign/Likely benign 43371 rs3729836 19:55668509-55668509 19:55157141-55157141
38 DNAAF3 , TNNI3 NM_000363.5(TNNI3):c.-35C>ASNV Benign/Likely benign 137687 rs3729707 19:55668992-55668992 19:55157624-55157624
39 TNNI3 NM_000363.5(TNNI3):c.244C>T (p.Pro82Ser)SNV Benign/Likely benign 12421 rs77615401 19:55667607-55667607 19:55156239-55156239
40 TNNI3 NM_000363.5(TNNI3):c.198G>A (p.Glu66=)SNV Benign/Likely benign 43364 rs3729710 19:55667653-55667653 19:55156285-55156285
41 DNAAF3 , TNNI3 NM_000363.5(TNNI3):c.150+13G>ASNV Benign/Likely benign 43362 rs73617692 19:55667958-55667958 19:55156590-55156590

UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Familial Restrictive, 1:

73
# Symbol AA change Variation ID SNP ID
1 TNNI3 p.Leu144Gln VAR_016079 rs121917760
2 TNNI3 p.Arg145Trp VAR_016080 rs104894724
3 TNNI3 p.Ala171Thr VAR_016081 rs121917761
4 TNNI3 p.Lys178Glu VAR_016082 rs104894730
5 TNNI3 p.Asp190His VAR_016083
6 TNNI3 p.Arg192His VAR_016084 rs104894729

Expression for Cardiomyopathy, Familial Restrictive, 1

Search GEO for disease gene expression data for Cardiomyopathy, Familial Restrictive, 1.

Pathways for Cardiomyopathy, Familial Restrictive, 1

GO Terms for Cardiomyopathy, Familial Restrictive, 1

Cellular components related to Cardiomyopathy, Familial Restrictive, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleolus GO:0005730 9.23 RRP8 NSUN5 NSUN2 NOP2 FTSJ3 DIMT1

Biological processes related to Cardiomyopathy, Familial Restrictive, 1 according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 rRNA processing GO:0006364 9.86 TRMT112 RRP8 NSUN5 NSUN4 NOP2 FTSJ3
2 tRNA methylation GO:0030488 9.72 TRMT112 TRMT11 NSUN6 NSUN2 FTSJ1
3 ribosome biogenesis GO:0042254 9.71 NSUN4 NOP2 FTSJ3 BUD23
4 rRNA methylation GO:0031167 9.7 TRMT112 NSUN4 NSUN3 FTSJ3 DIMT1 BUD23
5 tRNA processing GO:0008033 9.67 TRMT11 NSUN2 FTSJ1
6 tRNA modification GO:0006400 9.63 NSUN6 NSUN2 FTSJ1
7 RNA methylation GO:0001510 9.56 NSUN6 NSUN5 NSUN4 NSUN3 NSUN2 NOP2
8 positive regulation of rRNA processing GO:2000234 9.54 TRMT112 DIMT1 BUD23
9 methylation GO:0032259 9.5 TRMT112 TRMT11 RRP8 NSUN7 NSUN6 NSUN5
10 rRNA base methylation GO:0070475 9.48 NSUN5 NOP2
11 rRNA (guanine-N7)-methylation GO:0070476 9.43 TRMT112 BUD23

Molecular functions related to Cardiomyopathy, Familial Restrictive, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA binding GO:0003723 9.93 TRMT11 RRP8 NSUN7 NSUN6 NSUN5 NSUN4
2 transferase activity GO:0016740 9.8 TRMT11 RRP8 NSUN7 NSUN6 NSUN5 NSUN4
3 tRNA binding GO:0000049 9.71 TRMT11 NSUN6 NSUN3 NSUN2
4 tRNA (cytosine-5-)-methyltransferase activity GO:0016428 9.54 NSUN6 NSUN3 NSUN2
5 rRNA (guanine) methyltransferase activity GO:0016435 9.5 TRMT112 FTSJ3 BUD23
6 S-adenosylmethionine-dependent methyltransferase activity GO:0008757 9.48 RRP8 NOP2
7 methyltransferase activity GO:0008168 9.47 TRMT11 RRP8 NSUN7 NSUN6 NSUN5 NSUN4
8 RNA methyltransferase activity GO:0008173 9.46 FTSJ3 FTSJ1
9 rRNA methyltransferase activity GO:0008649 9.43 FTSJ3 DIMT1
10 rRNA (cytosine-C5-)-methyltransferase activity GO:0009383 9.43 NSUN5 NSUN4 NOP2

Sources for Cardiomyopathy, Familial Restrictive, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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