RCM1
MCID: CRD176
MIFTS: 20

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 57 73
Familial Restrictive Cardiomyopathy 1 29 6
Rcm1 57 75
Cardiomyopathy, Restrictive, Familial, Type 1 40
Cardiomyopathy, Familial Restrictive 1 75
Rcm 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

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


Classifications:



External Ids:

OMIM 57 115210
MedGen 42 C1861861
MeSH 44 D002313
SNOMED-CT via HPO 69 263681008 415295002 90828009
UMLS 73 C1861861

Summaries for Cardiomyopathy, Familial Restrictive, 1

UniProtKB/Swiss-Prot : 75 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 related phenotypes are ventriculomegaly and restrictive cardiomyopathy

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:

# Related Disease Score Top Affiliating Genes
1 restrictive cardiomyopathy 11.7
2 hereditary methemoglobinemia 11.6
3 lentigines 10.0
4 pityriasis rubra pilaris 10.0
5 basal cell carcinoma 1 10.0
6 basal cell carcinoma 10.0
7 spindle cell hemangioma 10.0
8 lichen planus 10.0
9 acanthamoeba keratitis 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

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

Human phenotypes related to Cardiomyopathy, Familial Restrictive, 1:

32
# Description HPO Frequency HPO Source Accession
1 ventriculomegaly 32 HP:0002119
2 restrictive cardiomyopathy 32 HP:0001723

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 29 TNNI3

Anatomical Context for Cardiomyopathy, Familial Restrictive, 1

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

41
Heart

Publications for Cardiomyopathy, Familial Restrictive, 1

Variations for Cardiomyopathy, Familial Restrictive, 1

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

75
# 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 24)
# 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.485G> A (p.Arg162Gln) single nucleotide variant Pathogenic/Likely pathogenic rs397516354 GRCh37 Chromosome 19, 55665462: 55665462
16 TNNI3 NM_000363.4(TNNI3): c.485G> A (p.Arg162Gln) single nucleotide variant Pathogenic/Likely pathogenic rs397516354 GRCh38 Chromosome 19, 55154094: 55154094
17 TNNI3 NM_000363.4(TNNI3): c.508C> G (p.Arg170Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs727503504 GRCh37 Chromosome 19, 55665439: 55665439
18 TNNI3 NM_000363.4(TNNI3): c.508C> G (p.Arg170Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs727503504 GRCh38 Chromosome 19, 55154071: 55154071
19 CRYAB NM_001885.2(CRYAB): c.326A> G (p.Asp109Gly) single nucleotide variant Likely pathogenic rs1114167341 GRCh38 Chromosome 11, 111908966: 111908966
20 CRYAB NM_001885.2(CRYAB): c.326A> G (p.Asp109Gly) single nucleotide variant Likely pathogenic rs1114167341 GRCh37 Chromosome 11, 111779690: 111779690
21 TNNI3 NM_000363.4(TNNI3): c.379G> T (p.Asp127Tyr) single nucleotide variant Likely pathogenic rs1114167340 GRCh37 Chromosome 19, 55665568: 55665568
22 TNNI3 NM_000363.4(TNNI3): c.379G> T (p.Asp127Tyr) single nucleotide variant Likely pathogenic rs1114167340 GRCh38 Chromosome 19, 55154200: 55154200
23 TNNI3 NM_000363.4(TNNI3): c.627G> C (p.Glu209Asp) single nucleotide variant Uncertain significance GRCh38 Chromosome 19, 55151840: 55151840
24 TNNI3 NM_000363.4(TNNI3): c.627G> C (p.Glu209Asp) single nucleotide variant Uncertain significance 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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69 SNOMED-CT via HPO
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74 UMLS via Orphanet
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