RCM1
MCID: CRD176
MIFTS: 29

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 57 72
Familial Restrictive Cardiomyopathy 1 29 6
Rcm1 57 74
Cardiomyopathy, Restrictive, Familial, Type 1 40
Cardiomyopathy, Familial Restrictive 1 74
Rcm-1 17
Rcm 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
cardiomyopathy, familial restrictive, 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

MeSH 44 D002313
MedGen 42 C1861861
UMLS 72 C1861861

Summaries for Cardiomyopathy, Familial Restrictive, 1

UniProtKB/Swiss-Prot : 74 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 hereditary methemoglobinemia. An important gene associated with Cardiomyopathy, Familial Restrictive, 1 is TNNI3 (Troponin I3, Cardiac Type). Affiliated tissues include heart and testes, and related phenotypes are left ventricular hypertrophy and left atrial enlargement

More information from OMIM: 115210 PS115210

Related Diseases for Cardiomyopathy, Familial Restrictive, 1

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:

32
# Description HPO Frequency HPO Source Accession
1 left ventricular hypertrophy 32 very rare (1%) HP:0001712
2 left atrial enlargement 32 very rare (1%) HP:0031295
3 sudden cardiac death 32 HP:0001645
4 ventriculomegaly 32 HP:0002119
5 restrictive cardiomyopathy 32 HP:0001723

Symptoms via clinical synopsis from OMIM:

57
Cardiac:
restrictive cardiomyopathy

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

Clinical features from OMIM:

115210

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:

41
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. 8 71
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). 71
21810866 2011
3
Clinical spectrum of restrictive cardiomyopathy in children. 8
11166616 2001
4
Troponin I: inhibitor or facilitator. 71
10098965 1999
5
Restrictive cardiomyopathy. 8
8995091 1997
6
Noonan's cardiomyopathy: a non-hypertrophic variant. 8
8043339 1994
7
Restrictive cardiomyopathy with complete atrioventricular block and distal myopathy with rimmed vacuoles. 8
8371486 1993
8
Familial cardiomyopathy with variable hypertrophic and restrictive features and common HLA haplotype. 8
1597356 1992
9
Primary restrictive cardiomyopathy: clinical and pathologic characteristics. 8
1918700 1991
10
Familial restrictive cardiomyopathy with atrioventricular block and skeletal myopathy. 8
2317404 1990
11
Familial restrictive cardiomyopathy. 8
2977941 1988
12
Role of Whole-exome Sequencing in Phenotype Classification and Clinical Treatment of Pediatric Restrictive Cardiomyopathy. 38
29176140 2017
13
Development and production of good manufacturing practice grade human embryonic stem cell lines as source material for clinical application. 38
27639108 2016
14
Derivation of the human embryonic stem cell line RCM1. 38
27346018 2016
15
Methylation of ribosomal RNA by NSUN5 is a conserved mechanism modulating organismal lifespan. 38
25635753 2015
16
A cluster of methylations in the domain IV of 25S rRNA is required for ribosome stability. 38
25125595 2014
17
Yeast Nop2 and Rcm1 methylate C2870 and C2278 of the 25S rRNA, respectively. 38
23913415 2013
18
The methyltransferase adaptor protein Trm112 is involved in biogenesis of both ribosomal subunits. 38
22956767 2012
19
Dielectrophoresis based discrimination of human embryonic stem cells from differentiating derivatives. 38
24339846 2012
20
A global circadian repressor controls antiphasic expression of metabolic genes in Neurospora. 38
22152473 2011
21
Clinically failed eggs as a source of normal human embryo stem cells. 38
19393594 2009
22
Production of retrovirus and adenovirus vectors for gene therapy: a comparative study using microcarrier and stationary cell culture. 38
12052081 2002
23
Identification and characterization of the Arabidopsis PHO1 gene involved in phosphate loading to the xylem. 38
11971143 2002
24
Back-priming of the RCM1 leucocyte-reduction filter: consequences for filtration efficacy. 38
11952986 2002
25
Sequence and transcript analysis of the nitrogenase structural gene operon (nifHDK) of Rhodobacter capsulatus: evidence for intramolecular processing of nifHDK mRNA. 38
7693551 1993

Variations for Cardiomyopathy, Familial Restrictive, 1

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

6 (show all 13)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TNNI3 NM_000363.5(TNNI3): c.569A> G (p.Asp190Gly) single nucleotide variant Pathogenic rs104894728 19:55663266-55663266 19:55151898-55151898
2 TNNI3 NM_000363.5(TNNI3): c.575G> A (p.Arg192His) single nucleotide variant Pathogenic rs104894729 19:55663260-55663260 19:55151892-55151892
3 TNNI3 NM_000363.5(TNNI3): c.532A> G (p.Lys178Glu) single nucleotide variant Pathogenic rs104894730 19:55665415-55665415 19:55154047-55154047
4 TNNI3 NM_000363.5(TNNI3): c.433C> T (p.Arg145Trp) single nucleotide variant Pathogenic rs104894724 19:55665514-55665514 19:55154146-55154146
5 TNNI3 NM_000363.5(TNNI3): c.431T> A (p.Leu144Gln) single nucleotide variant Pathogenic rs121917760 19:55665516-55665516 19:55154148-55154148
6 TNNI3 NM_000363.5(TNNI3): c.434G> A (p.Arg145Gln) single nucleotide variant Pathogenic/Likely pathogenic rs397516349 19:55665513-55665513 19:55154145-55154145
7 TNNI3 NM_000363.5(TNNI3): c.485G> A (p.Arg162Gln) single nucleotide variant Pathogenic/Likely pathogenic rs397516354 19:55665462-55665462 19:55154094-55154094
8 CRYAB NM_001885.3(CRYAB): c.326A> G (p.Asp109Gly) single nucleotide variant Likely pathogenic rs1114167341 11:111779690-111779690 11:111908966-111908966
9 TNNI3 NM_000363.5(TNNI3): c.379G> T (p.Asp127Tyr) single nucleotide variant Likely pathogenic rs1114167340 19:55665568-55665568 19:55154200-55154200
10 TNNI3 NM_000363.5(TNNI3): c.508C> G (p.Arg170Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs727503504 19:55665439-55665439 19:55154071-55154071
11 MYL3 NM_000258.2(MYL3): c.461G> A (p.Arg154His) single nucleotide variant Conflicting interpretations of pathogenicity rs104893749 3:46900985-46900985 3:46859495-46859495
12 TNNI3 NM_000363.5(TNNI3): c.627G> C (p.Glu209Asp) single nucleotide variant Uncertain significance rs1555862947 19:55663208-55663208 19:55151840-55151840
13 TNNI3 NM_000363.5(TNNI3): c.511G> A (p.Ala171Thr) single nucleotide variant Uncertain significance rs121917761 19:55665436-55665436 19:55154068-55154068

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

74
# 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

Sources for Cardiomyopathy, Familial Restrictive, 1

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69 SNOMED-CT via HPO
70 TGDB
71 Tocris
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73 UMLS via Orphanet
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