MCID: CRD090
MIFTS: 18

Cardiomyopathy, Dilated, 1l

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

Aliases & Classifications for Cardiomyopathy, Dilated, 1l

MalaCards integrated aliases for Cardiomyopathy, Dilated, 1l:

Name: Cardiomyopathy, Dilated, 1l 57 13 73
Dilated Cardiomyopathy 1l 12 29 6
Cmd1l 57 12 75
Cardiomyopathy, Dilated, Type 1l 40
Cardiomyopathy, Dilated 1l 75

Characteristics:

HPO:

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


Classifications:



External Ids:

OMIM 57 606685
Disease Ontology 12 DOID:0110436
ICD10 33 I42.0
MedGen 42 C1847667
MeSH 44 D002311
SNOMED-CT via HPO 69 263681008 195021004 399020009
UMLS 73 C1847667

Summaries for Cardiomyopathy, Dilated, 1l

OMIM : 57 Dilated cardiomyopathy, a disorder characterized by cardiac dilation and reduced systolic function, represents an outcome of a heterogeneous group of inherited and acquired disorders. For background and phenotypic information on dilated cardiomyopathy, see CMD1A (115200). (606685)

MalaCards based summary : Cardiomyopathy, Dilated, 1l, is also known as dilated cardiomyopathy 1l. An important gene associated with Cardiomyopathy, Dilated, 1l is SGCD (Sarcoglycan Delta). Affiliated tissues include heart, and related phenotypes are dilated cardiomyopathy and reduced systolic function

Disease Ontology : 12 A dilated cardiomyopathy that has material basis in mutations in the SGCD gene on chromosome 5q33.2-q33.3.

UniProtKB/Swiss-Prot : 75 Cardiomyopathy, dilated 1L: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.

Symptoms & Phenotypes for Cardiomyopathy, Dilated, 1l

Clinical features from OMIM:

606685

Human phenotypes related to Cardiomyopathy, Dilated, 1l:

32
# Description HPO Frequency HPO Source Accession
1 dilated cardiomyopathy 32 HP:0001644
2 reduced systolic function 32 HP:0006673

Drugs & Therapeutics for Cardiomyopathy, Dilated, 1l

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

Genetic Tests for Cardiomyopathy, Dilated, 1l

Genetic tests related to Cardiomyopathy, Dilated, 1l:

# Genetic test Affiliating Genes
1 Dilated Cardiomyopathy 1l 29 SGCD

Anatomical Context for Cardiomyopathy, Dilated, 1l

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

41
Heart

Publications for Cardiomyopathy, Dilated, 1l

Variations for Cardiomyopathy, Dilated, 1l

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

75
# Symbol AA change Variation ID SNP ID
1 SGCD p.Ser150Ala VAR_013181 rs121909298

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SGCD SGCD, 3-BP DEL, 710AGA/711GAA deletion Pathogenic
2 SGCD NM_000337.5(SGCD): c.494G> A (p.Arg165Gln) single nucleotide variant Uncertain significance rs727503423 GRCh37 Chromosome 5, 156022053: 156022053
3 SGCD NM_000337.5(SGCD): c.494G> A (p.Arg165Gln) single nucleotide variant Uncertain significance rs727503423 GRCh38 Chromosome 5, 156595043: 156595043

Expression for Cardiomyopathy, Dilated, 1l

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

Pathways for Cardiomyopathy, Dilated, 1l

GO Terms for Cardiomyopathy, Dilated, 1l

Sources for Cardiomyopathy, Dilated, 1l

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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