RCM1
MCID: CRD176
MIFTS: 26

Cardiomyopathy, Familial Restrictive, 1 (RCM1)

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases

Aliases & Classifications for Cardiomyopathy, Familial Restrictive, 1

MalaCards integrated aliases for Cardiomyopathy, Familial Restrictive, 1:

Name: Cardiomyopathy, Familial Restrictive, 1 58 74
Familial Restrictive Cardiomyopathy 1 30 6
Rcm1 58 76
Cardiomyopathy, Restrictive, Familial, Type 1 41
Cardiomyopathy, Familial Restrictive 1 76
Rcm-1 17
Rcm 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
cardiomyopathy, familial restrictive, 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 115210
MeSH 45 D002313
MedGen 43 C1861861
UMLS 74 C1861861

Summaries for Cardiomyopathy, Familial Restrictive, 1

UniProtKB/Swiss-Prot : 76 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 t cells, and related phenotypes are left ventricular hypertrophy and left atrial enlargement

Description from OMIM: 115210

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 20)
# Related Disease Score Top Affiliating Genes
1 restrictive cardiomyopathy 11.7
2 hereditary methemoglobinemia 11.7
3 rectum adenocarcinoma 10.4
4 adenocarcinoma 10.4
5 keratitis, hereditary 10.0
6 lentigines 10.0
7 pityriasis rubra pilaris 10.0
8 basal cell carcinoma 1 10.0
9 blood group, gerbich system 10.0
10 adult t-cell leukemia 10.0
11 leukemia 10.0
12 lymphoma 10.0
13 heart disease 10.0
14 melanoma 10.0
15 basal cell carcinoma 10.0
16 spindle cell hemangioma 10.0
17 t-cell leukemia 10.0
18 lichen planus 10.0
19 acanthamoeba keratitis 10.0
20 primary orthostatic tremor 10.0

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:

33
# Description HPO Frequency HPO Source Accession
1 left ventricular hypertrophy 33 very rare (1%) HP:0001712
2 left atrial enlargement 33 very rare (1%) HP:0031295
3 sudden cardiac death 33 HP:0001645
4 ventriculomegaly 33 HP:0002119
5 restrictive cardiomyopathy 33 HP:0001723

Symptoms via clinical synopsis from OMIM:

58
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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 RCM to Diagnose BCC - Reflectance Confocal Microscopy to Diagnose Basal Cell Carcinoma Recruiting NCT03331874

Search 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 30 TNNI3

Anatomical Context for Cardiomyopathy, Familial Restrictive, 1

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

42
Heart, T Cells

Publications for Cardiomyopathy, Familial Restrictive, 1

Articles related to Cardiomyopathy, Familial Restrictive, 1:

# Title Authors Year
1
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. ( 27854360 )
2017
2
Derivation of the human embryonic stem cell line RCM1. ( 27346018 )
2016
3
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. ( 25356965 )
2015
4
Yeast Nop2 and Rcm1 methylate C2870 and C2278 of the 25S rRNA, respectively. ( 23913415 )
2013
5
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. ( 23788249 )
2013
6
Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). ( 21267010 )
2011
7
Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations. ( 12531876 )
2003
8
Back-priming of the RCM1 leucocyte-reduction filter: consequences for filtration efficacy. ( 11952986 )
2002
9
Troponin I: inhibitor or facilitator. ( 10098965 )
1999

Variations for Cardiomyopathy, Familial Restrictive, 1

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

76
# 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

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

6 (show all 26)
# Gene Variation Type Significance SNP ID Assembly Location
1 TNNI3 NM_000363.4(TNNI3): c.569A> G (p.Asp190Gly) single nucleotide variant Pathogenic rs104894728 GRCh37 Chromosome 19, 55663266: 55663266
2 TNNI3 NM_000363.4(TNNI3): c.569A> G (p.Asp190Gly) single nucleotide variant Pathogenic rs104894728 GRCh38 Chromosome 19, 55151898: 55151898
3 TNNI3 NM_000363.4(TNNI3): c.575G> A (p.Arg192His) single nucleotide variant Pathogenic rs104894729 GRCh37 Chromosome 19, 55663260: 55663260
4 TNNI3 NM_000363.4(TNNI3): c.575G> A (p.Arg192His) single nucleotide variant Pathogenic rs104894729 GRCh38 Chromosome 19, 55151892: 55151892
5 TNNI3 NM_000363.4(TNNI3): c.532A> G (p.Lys178Glu) single nucleotide variant Pathogenic rs104894730 GRCh37 Chromosome 19, 55665415: 55665415
6 TNNI3 NM_000363.4(TNNI3): c.532A> G (p.Lys178Glu) single nucleotide variant Pathogenic rs104894730 GRCh38 Chromosome 19, 55154047: 55154047
7 TNNI3 NM_000363.4(TNNI3): c.433C> T (p.Arg145Trp) single nucleotide variant Pathogenic rs104894724 GRCh37 Chromosome 19, 55665514: 55665514
8 TNNI3 NM_000363.4(TNNI3): c.433C> T (p.Arg145Trp) single nucleotide variant Pathogenic rs104894724 GRCh38 Chromosome 19, 55154146: 55154146
9 TNNI3 NM_000363.4(TNNI3): c.431T> A (p.Leu144Gln) single nucleotide variant Pathogenic rs121917760 GRCh37 Chromosome 19, 55665516: 55665516
10 TNNI3 NM_000363.4(TNNI3): c.431T> A (p.Leu144Gln) single nucleotide variant Pathogenic rs121917760 GRCh38 Chromosome 19, 55154148: 55154148
11 TNNI3 NM_000363.4(TNNI3): c.511G> A (p.Ala171Thr) single nucleotide variant Pathogenic rs121917761 GRCh37 Chromosome 19, 55665436: 55665436
12 TNNI3 NM_000363.4(TNNI3): c.511G> A (p.Ala171Thr) single nucleotide variant Pathogenic rs121917761 GRCh38 Chromosome 19, 55154068: 55154068
13 MYL3 NM_000258.2(MYL3): c.461G> A (p.Arg154His) single nucleotide variant Conflicting interpretations of pathogenicity rs104893749 GRCh37 Chromosome 3, 46900985: 46900985
14 MYL3 NM_000258.2(MYL3): c.461G> A (p.Arg154His) single nucleotide variant Conflicting interpretations of pathogenicity rs104893749 GRCh38 Chromosome 3, 46859495: 46859495
15 TNNI3 NM_000363.4(TNNI3): c.434G> A (p.Arg145Gln) single nucleotide variant Pathogenic/Likely pathogenic rs397516349 GRCh37 Chromosome 19, 55665513: 55665513
16 TNNI3 NM_000363.4(TNNI3): c.434G> A (p.Arg145Gln) single nucleotide variant Pathogenic/Likely pathogenic rs397516349 GRCh38 Chromosome 19, 55154145: 55154145
17 TNNI3 NM_000363.4(TNNI3): c.485G> A (p.Arg162Gln) single nucleotide variant Pathogenic/Likely pathogenic rs397516354 GRCh37 Chromosome 19, 55665462: 55665462
18 TNNI3 NM_000363.4(TNNI3): c.485G> A (p.Arg162Gln) single nucleotide variant Pathogenic/Likely pathogenic rs397516354 GRCh38 Chromosome 19, 55154094: 55154094
19 TNNI3 NM_000363.4(TNNI3): c.508C> G (p.Arg170Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs727503504 GRCh37 Chromosome 19, 55665439: 55665439
20 TNNI3 NM_000363.4(TNNI3): c.508C> G (p.Arg170Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs727503504 GRCh38 Chromosome 19, 55154071: 55154071
21 CRYAB NM_001885.2(CRYAB): c.326A> G (p.Asp109Gly) single nucleotide variant Likely pathogenic rs1114167341 GRCh38 Chromosome 11, 111908966: 111908966
22 CRYAB NM_001885.2(CRYAB): c.326A> G (p.Asp109Gly) single nucleotide variant Likely pathogenic rs1114167341 GRCh37 Chromosome 11, 111779690: 111779690
23 TNNI3 NM_000363.4(TNNI3): c.379G> T (p.Asp127Tyr) single nucleotide variant Likely pathogenic rs1114167340 GRCh37 Chromosome 19, 55665568: 55665568
24 TNNI3 NM_000363.4(TNNI3): c.379G> T (p.Asp127Tyr) single nucleotide variant Likely pathogenic rs1114167340 GRCh38 Chromosome 19, 55154200: 55154200
25 TNNI3 NM_000363.4(TNNI3): c.627G> C (p.Glu209Asp) single nucleotide variant Uncertain significance rs1555862947 GRCh38 Chromosome 19, 55151840: 55151840
26 TNNI3 NM_000363.4(TNNI3): c.627G> C (p.Glu209Asp) single nucleotide variant Uncertain significance rs1555862947 GRCh37 Chromosome 19, 55663208: 55663208

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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75 UMLS via Orphanet
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