CMD1NN
MCID: CRD173
MIFTS: 21

Cardiomyopathy, Dilated, 1nn (CMD1NN)

Categories: Bone diseases, Cardiovascular diseases, Ear diseases, Genetic diseases, Immune diseases, Muscle 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 70
Cmd1nn 57 12 72
Cardiomyopathy, Dilated, Type 1nn 39
Cardiomyopathy, Dilated 1nn 72
Dilated Cardiomyopathy 1nn 12

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset in childhood or adolescence in most patients


HPO:

31
cardiomyopathy, dilated, 1nn:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110432
OMIM® 57 615916
OMIM Phenotypic Series 57 PS115200
MeSH 44 D002311
ICD10 32 I42.0
UMLS 70 C4014656

Summaries for Cardiomyopathy, Dilated, 1nn

UniProtKB/Swiss-Prot : 72 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.

More information from OMIM: 615916 PS115200

Symptoms & Phenotypes for Cardiomyopathy, Dilated, 1nn

Human phenotypes related to Cardiomyopathy, Dilated, 1nn:

31
# Description HPO Frequency HPO Source Accession
1 ventricular arrhythmia 31 occasional (7.5%) HP:0004308
2 dilated cardiomyopathy 31 HP:0001644
3 mitral regurgitation 31 HP:0001653

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Cardiovascular Heart:
dilated cardiomyopathy
ventricular arrhythmia (in some patients)
decreased left ventricular ejection fraction
mitral regurgitation, mild to severe

Clinical features from OMIM®:

615916 (Updated 20-May-2021)

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:

40
Heart

Publications for Cardiomyopathy, Dilated, 1nn

Articles related to Cardiomyopathy, Dilated, 1nn:

# Title Authors PMID Year
1
RAF1 mutations in childhood-onset dilated cardiomyopathy. 57 6
24777450 2014

Variations for Cardiomyopathy, Dilated, 1nn

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RAF1 NM_001354689.3(RAF1):c.1868T>C (p.Leu623Pro) SNV Pathogenic 142296 rs587777586 GRCh37: 3:12626152-12626152
GRCh38: 3:12584653-12584653
2 RAF1 NM_001354689.3(RAF1):c.709G>A (p.Ala237Thr) SNV Pathogenic 142299 rs587777588 GRCh37: 3:12645760-12645760
GRCh38: 3:12604261-12604261
3 RAF1 NM_001354689.3(RAF1):c.788T>A (p.Val263Asp) SNV Pathogenic 496189 rs397516830 GRCh37: 3:12645681-12645681
GRCh38: 3:12604182-12604182
4 RAF1 NM_001354689.3(RAF1):c.1982C>T (p.Thr661Met) SNV Pathogenic 142298 rs587777587 GRCh37: 3:12626038-12626038
GRCh38: 3:12584539-12584539
5 RAF1 NM_001354689.3(RAF1):c.770C>T (p.Ser257Leu) SNV Pathogenic 13957 rs80338796 GRCh37: 3:12645699-12645699
GRCh38: 3:12604200-12604200
6 RAF1 NM_001354689.3(RAF1):c.781C>G (p.Pro261Ala) SNV Pathogenic 40605 rs121434594 GRCh37: 3:12645688-12645688
GRCh38: 3:12604189-12604189
7 RAF1 NM_001354689.3(RAF1):c.1874C>T (p.Ser625Phe) SNV Uncertain significance 181512 rs730881004 GRCh37: 3:12626146-12626146
GRCh38: 3:12584647-12584647
8 RAF1 NM_001354689.3(RAF1):c.601A>G (p.Ile201Val) SNV Uncertain significance 432929 rs757700986 GRCh37: 3:12647779-12647779
GRCh38: 3:12606280-12606280
9 RAF1 NM_001354689.3(RAF1):c.1940G>A (p.Arg647Gln) SNV Uncertain significance 181514 rs730881006 GRCh37: 3:12626080-12626080
GRCh38: 3:12584581-12584581

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

72
# 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 rs155360979
6 RAF1 p.Thr641Met VAR_071849 rs587777587

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 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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