RCM1
MCID: CRD176
MIFTS: 21

Cardiomyopathy, Familial Restrictive, 1 (RCM1)

Categories: Genetic diseases, Cardiovascular 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 restrictive cardiomyopathy and ventriculomegaly

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 11.5
2 hereditary methemoglobinemia 11.5
3 pityriasis rubra pilaris 9.9
4 basal cell carcinoma 1 9.9
5 basal cell carcinoma 9.9
6 acanthamoeba keratitis 9.9

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 restrictive cardiomyopathy 32 HP:0001723
2 ventriculomegaly 32 HP:0002119

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 18)
# 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/Likely pathogenic rs104894724 GRCh37 Chromosome 19, 55665514: 55665514
8 TNNI3 NM_000363.4(TNNI3): c.433C> T (p.Arg145Trp) single nucleotide variant Pathogenic/Likely 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.485G> A (p.Arg162Gln) single nucleotide variant Pathogenic/Likely pathogenic rs397516354 GRCh37 Chromosome 19, 55665462: 55665462
12 TNNI3 NM_000363.4(TNNI3): c.485G> A (p.Arg162Gln) single nucleotide variant Pathogenic/Likely pathogenic rs397516354 GRCh38 Chromosome 19, 55154094: 55154094
13 TNNI3 NM_000363.4(TNNI3): c.508C> G (p.Arg170Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs727503504 GRCh37 Chromosome 19, 55665439: 55665439
14 TNNI3 NM_000363.4(TNNI3): c.508C> G (p.Arg170Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs727503504 GRCh38 Chromosome 19, 55154071: 55154071
15 CRYAB NM_001885.2(CRYAB): c.326A> G (p.Asp109Gly) single nucleotide variant Likely pathogenic rs1114167341 GRCh38 Chromosome 11, 111908966: 111908966
16 CRYAB NM_001885.2(CRYAB): c.326A> G (p.Asp109Gly) single nucleotide variant Likely pathogenic rs1114167341 GRCh37 Chromosome 11, 111779690: 111779690
17 TNNI3 NM_000363.4(TNNI3): c.379G> T (p.Asp127Tyr) single nucleotide variant Likely pathogenic rs1114167340 GRCh37 Chromosome 19, 55665568: 55665568
18 TNNI3 NM_000363.4(TNNI3): c.379G> T (p.Asp127Tyr) single nucleotide variant Likely pathogenic rs1114167340 GRCh38 Chromosome 19, 55154200: 55154200

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....