CMD1NN
MCID: CRD173
MIFTS: 19

Cardiomyopathy, Dilated, 1nn (CMD1NN)

Categories: Blood diseases, Cardiovascular diseases, Ear diseases, Genetic diseases, Immune diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Cardiomyopathy, Dilated, 1nn

MalaCards integrated aliases for Cardiomyopathy, Dilated, 1nn:

Name: Cardiomyopathy, Dilated, 1nn 58 30 6 74
Cmd1nn 58 12 76
Cardiomyopathy, Dilated, Type 1nn 41
Cardiomyopathy, Dilated 1nn 76
Dilated Cardiomyopathy 1nn 12

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
onset in childhood or adolescence in most patients


HPO:

33
cardiomyopathy, dilated, 1nn:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110432
OMIM 58 615916
MeSH 45 D002311
ICD10 34 I42.0
UMLS 74 C4014656

Summaries for Cardiomyopathy, Dilated, 1nn

UniProtKB/Swiss-Prot : 76 Cardiomyopathy, dilated 1NN: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.

MalaCards based summary : Cardiomyopathy, Dilated, 1nn, is also known as cmd1nn. An important gene associated with Cardiomyopathy, Dilated, 1nn is RAF1 (Raf-1 Proto-Oncogene, Serine/Threonine Kinase). Affiliated tissues include heart, and related phenotypes are ventricular arrhythmia and dilated cardiomyopathy

Disease Ontology : 12 A dilated cardiomyopathy that has material basis in mutation in the RAF1 gene on chromosome 3p25.

Description from OMIM: 615916

Symptoms & Phenotypes for Cardiomyopathy, Dilated, 1nn

Human phenotypes related to Cardiomyopathy, Dilated, 1nn:

33
# Description HPO Frequency HPO Source Accession
1 ventricular arrhythmia 33 occasional (7.5%) HP:0004308
2 dilated cardiomyopathy 33 HP:0001644
3 mitral regurgitation 33 HP:0001653

Symptoms via clinical synopsis from OMIM:

58
Cardiovascular Heart:
dilated cardiomyopathy
ventricular arrhythmia (in some patients)
decreased left ventricular ejection fraction
mitral regurgitation, mild to severe

Clinical features from OMIM:

615916

Drugs & Therapeutics for Cardiomyopathy, Dilated, 1nn

Search Clinical Trials , NIH Clinical Center for Cardiomyopathy, Dilated, 1nn

Genetic Tests for Cardiomyopathy, Dilated, 1nn

Genetic tests related to Cardiomyopathy, Dilated, 1nn:

# Genetic test Affiliating Genes
1 Cardiomyopathy, Dilated, 1nn 30 RAF1

Anatomical Context for Cardiomyopathy, Dilated, 1nn

MalaCards organs/tissues related to Cardiomyopathy, Dilated, 1nn:

42
Heart

Publications for Cardiomyopathy, Dilated, 1nn

Articles related to Cardiomyopathy, Dilated, 1nn:

# Title Authors Year
1
RAF1 mutations in childhood-onset dilated cardiomyopathy. ( 24777450 )
2014

Variations for Cardiomyopathy, Dilated, 1nn

UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Dilated, 1nn:

76
# Symbol AA change Variation ID SNP ID
1 RAF1 p.Ala237Thr VAR_071844 rs587777588
2 RAF1 p.Thr310Ala VAR_071845 rs778155315
3 RAF1 p.Pro332Ala VAR_071846 rs105740386
4 RAF1 p.Leu603Pro VAR_071847 rs587777586
5 RAF1 p.His626Arg VAR_071848
6 RAF1 p.Thr641Met VAR_071849 rs587777587

ClinVar genetic disease variations for Cardiomyopathy, Dilated, 1nn:

6 (show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 RAF1 NM_002880.3(RAF1): c.770C> T (p.Ser257Leu) single nucleotide variant Pathogenic rs80338796 GRCh37 Chromosome 3, 12645699: 12645699
2 RAF1 NM_002880.3(RAF1): c.770C> T (p.Ser257Leu) single nucleotide variant Pathogenic rs80338796 GRCh38 Chromosome 3, 12604200: 12604200
3 RAF1 NM_002880.3(RAF1): c.781C> G (p.Pro261Ala) single nucleotide variant Pathogenic/Likely pathogenic rs121434594 GRCh37 Chromosome 3, 12645688: 12645688
4 RAF1 NM_002880.3(RAF1): c.781C> G (p.Pro261Ala) single nucleotide variant Pathogenic/Likely pathogenic rs121434594 GRCh38 Chromosome 3, 12604189: 12604189
5 RAF1 NM_002880.3(RAF1): c.1808T> C (p.Leu603Pro) single nucleotide variant Pathogenic rs587777586 GRCh37 Chromosome 3, 12626152: 12626152
6 RAF1 NM_002880.3(RAF1): c.1808T> C (p.Leu603Pro) single nucleotide variant Pathogenic rs587777586 GRCh38 Chromosome 3, 12584653: 12584653
7 RAF1 NM_002880.3(RAF1): c.1922C> T (p.Thr641Met) single nucleotide variant Pathogenic rs587777587 GRCh37 Chromosome 3, 12626038: 12626038
8 RAF1 NM_002880.3(RAF1): c.1922C> T (p.Thr641Met) single nucleotide variant Pathogenic rs587777587 GRCh38 Chromosome 3, 12584539: 12584539
9 RAF1 NM_002880.3(RAF1): c.709G> A (p.Ala237Thr) single nucleotide variant Pathogenic rs587777588 GRCh37 Chromosome 3, 12645760: 12645760
10 RAF1 NM_002880.3(RAF1): c.709G> A (p.Ala237Thr) single nucleotide variant Pathogenic rs587777588 GRCh38 Chromosome 3, 12604261: 12604261
11 RAF1 NM_002880.3(RAF1): c.1814C> T (p.Ser605Phe) single nucleotide variant Uncertain significance rs730881004 GRCh37 Chromosome 3, 12626146: 12626146
12 RAF1 NM_002880.3(RAF1): c.1814C> T (p.Ser605Phe) single nucleotide variant Uncertain significance rs730881004 GRCh38 Chromosome 3, 12584647: 12584647
13 RAF1 NM_002880.3(RAF1): c.601A> G (p.Ile201Val) single nucleotide variant Uncertain significance rs757700986 GRCh37 Chromosome 3, 12647779: 12647779
14 RAF1 NM_002880.3(RAF1): c.601A> G (p.Ile201Val) single nucleotide variant Uncertain significance rs757700986 GRCh38 Chromosome 3, 12606280: 12606280
15 RAF1 NM_002880.3(RAF1): c.788T> A (p.Val263Asp) single nucleotide variant Pathogenic/Likely pathogenic rs397516830 GRCh38 Chromosome 3, 12604182: 12604182
16 RAF1 NM_002880.3(RAF1): c.788T> A (p.Val263Asp) single nucleotide variant Pathogenic/Likely pathogenic rs397516830 GRCh37 Chromosome 3, 12645681: 12645681

Expression for Cardiomyopathy, Dilated, 1nn

Search GEO for disease gene expression data for Cardiomyopathy, Dilated, 1nn.

Pathways for Cardiomyopathy, Dilated, 1nn

GO Terms for Cardiomyopathy, Dilated, 1nn

Sources for Cardiomyopathy, Dilated, 1nn

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63 PubMed
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70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
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74 UMLS
75 UMLS via Orphanet
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