CMD1L
MCID: CRD090
MIFTS: 19

Cardiomyopathy, Dilated, 1l (CMD1L)

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

Aliases & Classifications for Cardiomyopathy, Dilated, 1l

MalaCards integrated aliases for Cardiomyopathy, Dilated, 1l:

Name: Cardiomyopathy, Dilated, 1l 58 13 74
Dilated Cardiomyopathy 1l 12 30 6
Cmd1l 58 12 76
Cardiomyopathy, Dilated, Type 1l 41
Cardiomyopathy, Dilated 1l 76

Characteristics:

HPO:

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


Classifications:



External Ids:

Disease Ontology 12 DOID:0110436
OMIM 58 606685
MeSH 45 D002311
ICD10 34 I42.0
MedGen 43 C1847667
UMLS 74 C1847667

Summaries for Cardiomyopathy, Dilated, 1l

OMIM : 58 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 congestive heart failure and dilated cardiomyopathy

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 : 76 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

Human phenotypes related to Cardiomyopathy, Dilated, 1l:

33
# Description HPO Frequency HPO Source Accession
1 congestive heart failure 33 HP:0001635
2 dilated cardiomyopathy 33 HP:0001644
3 reduced systolic function 33 HP:0006673

Clinical features from OMIM:

606685

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 30 SGCD

Anatomical Context for Cardiomyopathy, Dilated, 1l

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

42
Heart

Publications for Cardiomyopathy, Dilated, 1l

Articles related to Cardiomyopathy, Dilated, 1l:

# Title Authors Year
1
S151A δ-sarcoglycan mutation causes a mild phenotype of cardiomyopathy in mice. ( 23695275 )
2014
2
Does delta-sarcoglycan-associated autosomal-dominant cardiomyopathy exist? ( 19259135 )
2009
3
Revised spectrum of mutations in sarcoglycanopathies. ( 18285821 )
2008
4
Nuclear sequestration of delta-sarcoglycan disrupts the nuclear localization of lamin A/C and emerin in cardiomyocytes. ( 17164264 )
2007
5
Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy. ( 10974018 )
2000

Variations for Cardiomyopathy, Dilated, 1l

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

76
# Symbol AA change Variation ID SNP ID
1 SGCD p.Ser150Ala VAR_013181 rs121909298

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

6 (show top 50) (show all 91)
# Gene Variation Type Significance SNP ID Assembly Location
1 SGCD NM_000337.5(SGCD): c.493C> T (p.Arg165Ter) single nucleotide variant Pathogenic rs121909295 GRCh37 Chromosome 5, 156022052: 156022052
2 SGCD NM_000337.5(SGCD): c.493C> T (p.Arg165Ter) single nucleotide variant Pathogenic rs121909295 GRCh38 Chromosome 5, 156595042: 156595042
3 SGCD SGCD, 3-BP DEL, 710AGA/711GAA deletion Pathogenic
4 SGCD NM_000337.5(SGCD): c.451T> G (p.Ser151Ala) single nucleotide variant Uncertain significance rs121909298 GRCh37 Chromosome 5, 156022010: 156022010
5 SGCD NM_000337.5(SGCD): c.451T> G (p.Ser151Ala) single nucleotide variant Uncertain significance rs121909298 GRCh38 Chromosome 5, 156595000: 156595000
6 SGCD NM_000337.5(SGCD): c.731C> T (p.Pro244Leu) single nucleotide variant Uncertain significance rs375159661 GRCh37 Chromosome 5, 156186259: 156186259
7 SGCD NM_000337.5(SGCD): c.731C> T (p.Pro244Leu) single nucleotide variant Uncertain significance rs375159661 GRCh38 Chromosome 5, 156759248: 156759248
8 SGCD NM_000337.5(SGCD): c.393C> T (p.Ala131=) single nucleotide variant Likely benign rs397517922 GRCh37 Chromosome 5, 156021952: 156021952
9 SGCD NM_000337.5(SGCD): c.393C> T (p.Ala131=) single nucleotide variant Likely benign rs397517922 GRCh38 Chromosome 5, 156594942: 156594942
10 SGCD NM_000337.5(SGCD): c.69C> T (p.Tyr23=) single nucleotide variant Conflicting interpretations of pathogenicity rs397517923 GRCh37 Chromosome 5, 155771564: 155771564
11 SGCD NM_000337.5(SGCD): c.69C> T (p.Tyr23=) single nucleotide variant Conflicting interpretations of pathogenicity rs397517923 GRCh38 Chromosome 5, 156344554: 156344554
12 SGCD NM_000337.5(SGCD): c.699+18C> G single nucleotide variant Conflicting interpretations of pathogenicity rs180898690 GRCh37 Chromosome 5, 156184733: 156184733
13 SGCD NM_000337.5(SGCD): c.699+18C> G single nucleotide variant Conflicting interpretations of pathogenicity rs180898690 GRCh38 Chromosome 5, 156757722: 156757722
14 SGCD NM_000337.5(SGCD): c.-378G> T single nucleotide variant Uncertain significance rs531296131 GRCh38 Chromosome 5, 156326898: 156326898
15 SGCD NM_000337.5(SGCD): c.-378G> T single nucleotide variant Uncertain significance rs531296131 GRCh37 Chromosome 5, 155753908: 155753908
16 SGCD NM_000337.5(SGCD): c.-44G> T single nucleotide variant Uncertain significance rs727503420 GRCh37 Chromosome 5, 155754242: 155754242
17 SGCD NM_000337.5(SGCD): c.-44G> T single nucleotide variant Uncertain significance rs727503420 GRCh38 Chromosome 5, 156327232: 156327232
18 SGCD NM_000337.5(SGCD): c.193-12G> T single nucleotide variant Conflicting interpretations of pathogenicity rs727503421 GRCh37 Chromosome 5, 155935599: 155935599
19 SGCD NM_000337.5(SGCD): c.193-12G> T single nucleotide variant Conflicting interpretations of pathogenicity rs727503421 GRCh38 Chromosome 5, 156508589: 156508589
20 SGCD NM_000337.5(SGCD): c.383-17_383-10delCTCTCTAT deletion Conflicting interpretations of pathogenicity rs727504998 GRCh38 Chromosome 5, 156594915: 156594922
21 SGCD NM_000337.5(SGCD): c.383-17_383-10delCTCTCTAT deletion Conflicting interpretations of pathogenicity rs727504998 GRCh37 Chromosome 5, 156021925: 156021932
22 SGCD NM_000337.5(SGCD): c.394G> A (p.Val132Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs367819390 GRCh38 Chromosome 5, 156594943: 156594943
23 SGCD NM_000337.5(SGCD): c.394G> A (p.Val132Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs367819390 GRCh37 Chromosome 5, 156021953: 156021953
24 SGCD NM_000337.5(SGCD): c.699+72A> C single nucleotide variant Uncertain significance rs376317697 GRCh37 Chromosome 5, 156184787: 156184787
25 SGCD NM_000337.5(SGCD): c.699+72A> C single nucleotide variant Uncertain significance rs376317697 GRCh38 Chromosome 5, 156757776: 156757776
26 SGCD NM_000337.5(SGCD): c.-59G> A single nucleotide variant Uncertain significance rs375477247 GRCh38 Chromosome 5, 156327217: 156327217
27 SGCD NM_000337.5(SGCD): c.-59G> A single nucleotide variant Uncertain significance rs375477247 GRCh37 Chromosome 5, 155754227: 155754227
28 SGCD NM_000337.5(SGCD): c.-44+11G> A single nucleotide variant Conflicting interpretations of pathogenicity rs184722381 GRCh38 Chromosome 5, 156327243: 156327243
29 SGCD NM_000337.5(SGCD): c.-44+11G> A single nucleotide variant Conflicting interpretations of pathogenicity rs184722381 GRCh37 Chromosome 5, 155754253: 155754253
30 SGCD NM_000337.5(SGCD): c.4-12C> T single nucleotide variant Uncertain significance rs727504580 GRCh38 Chromosome 5, 156344477: 156344477
31 SGCD NM_000337.5(SGCD): c.4-12C> T single nucleotide variant Uncertain significance rs727504580 GRCh37 Chromosome 5, 155771487: 155771487
32 SGCD NM_000337.5(SGCD): c.177C> T (p.Val59=) single nucleotide variant Likely benign rs727505265 GRCh37 Chromosome 5, 155771672: 155771672
33 SGCD NM_000337.5(SGCD): c.177C> T (p.Val59=) single nucleotide variant Likely benign rs727505265 GRCh38 Chromosome 5, 156344662: 156344662
34 SGCD NM_000337.5(SGCD): c.294+1G> A single nucleotide variant Likely pathogenic rs727503422 GRCh37 Chromosome 5, 155935713: 155935713
35 SGCD NM_000337.5(SGCD): c.294+1G> A single nucleotide variant Likely pathogenic rs727503422 GRCh38 Chromosome 5, 156508703: 156508703
36 SGCD NM_000337.5(SGCD): c.494G> A (p.Arg165Gln) single nucleotide variant Uncertain significance rs727503423 GRCh37 Chromosome 5, 156022053: 156022053
37 SGCD NM_000337.5(SGCD): c.494G> A (p.Arg165Gln) single nucleotide variant Uncertain significance rs727503423 GRCh38 Chromosome 5, 156595043: 156595043
38 SGCD NM_000337.5(SGCD): c.-43-1G> A single nucleotide variant Uncertain significance rs767016855 GRCh38 Chromosome 5, 156329533: 156329533
39 SGCD NM_000337.5(SGCD): c.-43-1G> A single nucleotide variant Uncertain significance rs767016855 GRCh37 Chromosome 5, 155756543: 155756543
40 SGCD NM_000337.5(SGCD): c.268T> A (p.Tyr90Asn) single nucleotide variant Uncertain significance rs786205286 GRCh37 Chromosome 5, 155935686: 155935686
41 SGCD NM_000337.5(SGCD): c.268T> A (p.Tyr90Asn) single nucleotide variant Uncertain significance rs786205286 GRCh38 Chromosome 5, 156508676: 156508676
42 SGCD NM_000337.5(SGCD): c.32G> A (p.Arg11Gln) single nucleotide variant Uncertain significance rs752548592 GRCh37 Chromosome 5, 155771527: 155771527
43 SGCD NM_000337.5(SGCD): c.32G> A (p.Arg11Gln) single nucleotide variant Uncertain significance rs752548592 GRCh38 Chromosome 5, 156344517: 156344517
44 SGCD NM_000337.5(SGCD): c.697G> A (p.Glu233Lys) single nucleotide variant Uncertain significance rs768979513 GRCh38 Chromosome 5, 156757702: 156757702
45 SGCD NM_000337.5(SGCD): c.697G> A (p.Glu233Lys) single nucleotide variant Uncertain significance rs768979513 GRCh37 Chromosome 5, 156184713: 156184713
46 SGCD NM_000337.5(SGCD): c.383-17_383-10dup8 duplication Uncertain significance rs727504998 GRCh37 Chromosome 5, 156021925: 156021932
47 SGCD NM_000337.5(SGCD): c.383-17_383-10dup8 duplication Uncertain significance rs727504998 GRCh38 Chromosome 5, 156594915: 156594922
48 SGCD NM_000337.5(SGCD): c.559C> T (p.Pro187Ser) single nucleotide variant Uncertain significance rs769250018 GRCh38 Chromosome 5, 156647520: 156647520
49 SGCD NM_000337.5(SGCD): c.559C> T (p.Pro187Ser) single nucleotide variant Uncertain significance rs769250018 GRCh37 Chromosome 5, 156074530: 156074530
50 SGCD NM_000337.5(SGCD): c.4-1G> A single nucleotide variant Conflicting interpretations of pathogenicity rs1554094927 GRCh37 Chromosome 5, 155771498: 155771498

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

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