MCID: CRD153
MIFTS: 20

Cardiomyopathy, Dilated, 2b

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

Aliases & Classifications for Cardiomyopathy, Dilated, 2b

MalaCards integrated aliases for Cardiomyopathy, Dilated, 2b:

Name: Cardiomyopathy, Dilated, 2b 57 29 13 6 73
Cmd2b 57 12 75
Cardiomyopathy, Dilated, Type 2b 40
Cardiomyopathy, Dilated 2b 75
Dilated Cardiomyopathy 2b 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
cardiomyopathy, dilated, 2b:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 614672
Disease Ontology 12 DOID:0110441
ICD10 33 I42.0
MeSH 44 D002311
UMLS 73 C3553409

Summaries for Cardiomyopathy, Dilated, 2b

UniProtKB/Swiss-Prot : 75 Cardiomyopathy, dilated 2B: 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, 2b, is also known as cmd2b. An important gene associated with Cardiomyopathy, Dilated, 2b is GATAD1 (GATA Zinc Finger Domain Containing 1). 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 mutation in the GATAD1 gene on chromosome 7q21.

Description from OMIM: 614672

Symptoms & Phenotypes for Cardiomyopathy, Dilated, 2b

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
cardiomyopathy, dilated
decreased ejection fraction
heart failure
atrial fibrillation (in some patients)
interstitial fibrosis, focal, mild
more

Clinical features from OMIM:

614672

Human phenotypes related to Cardiomyopathy, Dilated, 2b:

32
# Description HPO Frequency HPO Source Accession
1 congestive heart failure 32 HP:0001635
2 dilated cardiomyopathy 32 HP:0001644
3 atrial fibrillation 32 occasional (7.5%) HP:0005110

Drugs & Therapeutics for Cardiomyopathy, Dilated, 2b

Search Clinical Trials , NIH Clinical Center for Cardiomyopathy, Dilated, 2b

Genetic Tests for Cardiomyopathy, Dilated, 2b

Genetic tests related to Cardiomyopathy, Dilated, 2b:

# Genetic test Affiliating Genes
1 Cardiomyopathy, Dilated, 2b 29 GATAD1

Anatomical Context for Cardiomyopathy, Dilated, 2b

MalaCards organs/tissues related to Cardiomyopathy, Dilated, 2b:

41
Heart

Publications for Cardiomyopathy, Dilated, 2b

Variations for Cardiomyopathy, Dilated, 2b

UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Dilated, 2b:

75
# Symbol AA change Variation ID SNP ID
1 GATAD1 p.Ser102Pro VAR_068556 rs387907188

ClinVar genetic disease variations for Cardiomyopathy, Dilated, 2b:

6
(show all 20)
# Gene Variation Type Significance SNP ID Assembly Location
1 GATAD1 NM_021167.4(GATAD1): c.304T> C (p.Ser102Pro) single nucleotide variant Pathogenic rs387907188 GRCh37 Chromosome 7, 92078120: 92078120
2 GATAD1 NM_021167.4(GATAD1): c.304T> C (p.Ser102Pro) single nucleotide variant Pathogenic rs387907188 GRCh38 Chromosome 7, 92448806: 92448806
3 GATAD1 NM_021167.4(GATAD1): c.604G> A (p.Ala202Thr) single nucleotide variant Uncertain significance rs564747350 GRCh37 Chromosome 7, 92083984: 92083984
4 GATAD1 NM_021167.4(GATAD1): c.604G> A (p.Ala202Thr) single nucleotide variant Uncertain significance rs564747350 GRCh38 Chromosome 7, 92454670: 92454670
5 GATAD1 NM_021167.4(GATAD1): c.176G> C (p.Gly59Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs531449433 GRCh37 Chromosome 7, 92077219: 92077219
6 GATAD1 NM_021167.4(GATAD1): c.176G> C (p.Gly59Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs531449433 GRCh38 Chromosome 7, 92447905: 92447905
7 GATAD1 NM_021167.4(GATAD1): c.175_177dupGGC (p.Gly59_Phe60insGly) duplication Uncertain significance rs876657812 GRCh38 Chromosome 7, 92447904: 92447906
8 GATAD1 NM_021167.4(GATAD1): c.175_177dupGGC (p.Gly59_Phe60insGly) duplication Uncertain significance rs876657812 GRCh37 Chromosome 7, 92077218: 92077220
9 GATAD1 NM_021167.4(GATAD1): c.285C> T (p.Leu95=) single nucleotide variant Likely benign rs371500622 GRCh38 Chromosome 7, 92448787: 92448787
10 GATAD1 NM_021167.4(GATAD1): c.285C> T (p.Leu95=) single nucleotide variant Likely benign rs371500622 GRCh37 Chromosome 7, 92078101: 92078101
11 GATAD1 NM_021167.4(GATAD1): c.466T> G (p.Ser156Ala) single nucleotide variant Uncertain significance rs754965302 GRCh38 Chromosome 7, 92454532: 92454532
12 GATAD1 NM_021167.4(GATAD1): c.466T> G (p.Ser156Ala) single nucleotide variant Uncertain significance rs754965302 GRCh37 Chromosome 7, 92083846: 92083846
13 GATAD1 NM_021167.4(GATAD1): c.367T> C (p.Leu123=) single nucleotide variant Likely benign rs146142781 GRCh37 Chromosome 7, 92078183: 92078183
14 GATAD1 NM_021167.4(GATAD1): c.367T> C (p.Leu123=) single nucleotide variant Likely benign rs146142781 GRCh38 Chromosome 7, 92448869: 92448869
15 GATAD1 NM_021167.4(GATAD1): c.184G> T (p.Ala62Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 7, 92077227: 92077227
16 GATAD1 NM_021167.4(GATAD1): c.184G> T (p.Ala62Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 7, 92447913: 92447913
17 GATAD1 NM_021167.4(GATAD1): c.192C> T (p.Thr64=) single nucleotide variant Likely benign GRCh38 Chromosome 7, 92447921: 92447921
18 GATAD1 NM_021167.4(GATAD1): c.192C> T (p.Thr64=) single nucleotide variant Likely benign GRCh37 Chromosome 7, 92077235: 92077235
19 GATAD1 NM_021167.4(GATAD1): c.604G> T (p.Ala202Ser) single nucleotide variant Uncertain significance rs564747350 GRCh38 Chromosome 7, 92454670: 92454670
20 GATAD1 NM_021167.4(GATAD1): c.604G> T (p.Ala202Ser) single nucleotide variant Uncertain significance rs564747350 GRCh37 Chromosome 7, 92083984: 92083984

Expression for Cardiomyopathy, Dilated, 2b

Search GEO for disease gene expression data for Cardiomyopathy, Dilated, 2b.

Pathways for Cardiomyopathy, Dilated, 2b

GO Terms for Cardiomyopathy, Dilated, 2b

Sources for Cardiomyopathy, Dilated, 2b

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