CMD1NN
MCID: CRD173
MIFTS: 20

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 57 29 6 73
Cmd1nn 57 12 75
Cardiomyopathy, Dilated, Type 1nn 40
Cardiomyopathy, Dilated 1nn 75
Dilated Cardiomyopathy 1nn 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset in childhood or adolescence in most patients


HPO:

32
cardiomyopathy, dilated, 1nn:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 615916
Disease Ontology 12 DOID:0110432
ICD10 33 I42.0
MeSH 44 D002311
UMLS 73 C4014656

Summaries for Cardiomyopathy, Dilated, 1nn

UniProtKB/Swiss-Prot : 75 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 dilated cardiomyopathy and mitral regurgitation

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

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
dilated cardiomyopathy
ventricular arrhythmia (in some patients)
decreased left ventricular ejection fraction
mitral regurgitation, mild to severe


Clinical features from OMIM:

615916

Human phenotypes related to Cardiomyopathy, Dilated, 1nn:

32
# Description HPO Frequency HPO Source Accession
1 dilated cardiomyopathy 32 HP:0001644
2 mitral regurgitation 32 HP:0001653
3 ventricular arrhythmia 32 occasional (7.5%) HP:0004308

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 29 RAF1

Anatomical Context for Cardiomyopathy, Dilated, 1nn

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

41
Heart

Publications for Cardiomyopathy, Dilated, 1nn

Variations for Cardiomyopathy, Dilated, 1nn

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

75
# 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
# 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.1808T> C (p.Leu603Pro) single nucleotide variant Pathogenic rs587777586 GRCh37 Chromosome 3, 12626152: 12626152
4 RAF1 NM_002880.3(RAF1): c.1808T> C (p.Leu603Pro) single nucleotide variant Pathogenic rs587777586 GRCh38 Chromosome 3, 12584653: 12584653
5 RAF1 NM_002880.3(RAF1): c.1922C> T (p.Thr641Met) single nucleotide variant Pathogenic rs587777587 GRCh37 Chromosome 3, 12626038: 12626038
6 RAF1 NM_002880.3(RAF1): c.1922C> T (p.Thr641Met) single nucleotide variant Pathogenic rs587777587 GRCh38 Chromosome 3, 12584539: 12584539
7 RAF1 NM_002880.3(RAF1): c.709G> A (p.Ala237Thr) single nucleotide variant Pathogenic rs587777588 GRCh37 Chromosome 3, 12645760: 12645760
8 RAF1 NM_002880.3(RAF1): c.709G> A (p.Ala237Thr) single nucleotide variant Pathogenic rs587777588 GRCh38 Chromosome 3, 12604261: 12604261

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

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
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