CMD2B
MCID: CRD153
MIFTS: 23

Cardiomyopathy, Dilated, 2b (CMD2B)

Categories: Bone diseases, Cardiovascular diseases, Ear diseases, Genetic diseases, Immune diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Cardiomyopathy, Dilated, 2b

MalaCards integrated aliases for Cardiomyopathy, Dilated, 2b:

Name: Cardiomyopathy, Dilated, 2b 57 29 13 6 70
Cmd2b 57 12 72
Cardiomyopathy, Dilated, Type 2b 39
Cardiomyopathy, Dilated 2b 72
Dilated Cardiomyopathy 2b 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
cardiomyopathy, dilated, 2b:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110441
OMIM® 57 614672
OMIM Phenotypic Series 57 PS115200
MeSH 44 D002311
ICD10 32 I42.0
UMLS 70 C3553409

Summaries for Cardiomyopathy, Dilated, 2b

UniProtKB/Swiss-Prot : 72 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 atrial fibrillation and congestive heart failure

Disease Ontology : 12 A dilated cardiomyopathy that has material basis in mutation in the GATAD1 gene on chromosome 7q21.

More information from OMIM: 614672 PS115200

Symptoms & Phenotypes for Cardiomyopathy, Dilated, 2b

Human phenotypes related to Cardiomyopathy, Dilated, 2b:

31
# Description HPO Frequency HPO Source Accession
1 atrial fibrillation 31 occasional (7.5%) HP:0005110
2 congestive heart failure 31 HP:0001635
3 dilated cardiomyopathy 31 HP:0001644

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Cardiovascular Heart:
atrial fibrillation (in some patients)
heart failure
cardiomyopathy, dilated
myocyte hypertrophy
decreased ejection fraction
more

Clinical features from OMIM®:

614672 (Updated 05-Apr-2021)

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:

40
Heart

Publications for Cardiomyopathy, Dilated, 2b

Articles related to Cardiomyopathy, Dilated, 2b:

# Title Authors PMID Year
1
Homozygosity mapping and exome sequencing reveal GATAD1 mutation in autosomal recessive dilated cardiomyopathy. 6 57
21965549 2011

Variations for Cardiomyopathy, Dilated, 2b

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

6 (show all 43)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GATAD1 NM_021167.5(GATAD1):c.304T>C (p.Ser102Pro) SNV Pathogenic 31656 rs387907188 GRCh37: 7:92078120-92078120
GRCh38: 7:92448806-92448806
2 GATAD1 NM_021167.5(GATAD1):c.466T>G (p.Ser156Ala) SNV Uncertain significance 411577 rs754965302 GRCh37: 7:92083846-92083846
GRCh38: 7:92454532-92454532
3 GATAD1 NM_021167.5(GATAD1):c.184G>T (p.Ala62Ser) SNV Uncertain significance 473162 rs1445688677 GRCh37: 7:92077227-92077227
GRCh38: 7:92447913-92447913
4 GATAD1 NM_021167.5(GATAD1):c.604G>A (p.Ala202Thr) SNV Uncertain significance 163499 rs564747350 GRCh37: 7:92083984-92083984
GRCh38: 7:92454670-92454670
5 GATAD1 NM_021167.5(GATAD1):c.604G>T (p.Ala202Ser) SNV Uncertain significance 540376 rs564747350 GRCh37: 7:92083984-92083984
GRCh38: 7:92454670-92454670
6 GATAD1 NM_021167.5(GATAD1):c.22A>T (p.Thr8Ser) SNV Uncertain significance 999382 GRCh37: 7:92077065-92077065
GRCh38: 7:92447751-92447751
7 GATAD1 NM_021167.5(GATAD1):c.231GGGCGG[3] (p.Gly80_Gly81dup) Microsatellite Uncertain significance 1005144 GRCh37: 7:92077270-92077271
GRCh38: 7:92447956-92447957
8 GATAD1 NM_021167.5(GATAD1):c.170G>C (p.Gly57Ala) SNV Uncertain significance 1007739 GRCh37: 7:92077213-92077213
GRCh38: 7:92447899-92447899
9 GATAD1 NM_021167.5(GATAD1):c.184G>A (p.Ala62Thr) SNV Uncertain significance 1012067 GRCh37: 7:92077227-92077227
GRCh38: 7:92447913-92447913
10 GATAD1 NM_021167.5(GATAD1):c.106C>T (p.Arg36Trp) SNV Uncertain significance 834600 GRCh37: 7:92077149-92077149
GRCh38: 7:92447835-92447835
11 GATAD1 NM_021167.5(GATAD1):c.311_312delinsAA (p.Pro104Gln) Indel Uncertain significance 847058 GRCh37: 7:92078127-92078128
GRCh38: 7:92448813-92448814
12 GATAD1 NM_021167.5(GATAD1):c.539A>T (p.Glu180Val) SNV Uncertain significance 639273 rs764831879 GRCh37: 7:92083919-92083919
GRCh38: 7:92454605-92454605
13 GATAD1 NM_021167.5(GATAD1):c.107G>A (p.Arg36Gln) SNV Uncertain significance 951279 GRCh37: 7:92077150-92077150
GRCh38: 7:92447836-92447836
14 GATAD1 NM_021167.5(GATAD1):c.575T>C (p.Leu192Pro) SNV Uncertain significance 373242 rs370960226 GRCh37: 7:92083955-92083955
GRCh38: 7:92454641-92454641
15 GATAD1 NM_021167.5(GATAD1):c.507A>G (p.Gln169=) SNV Uncertain significance 964944 GRCh37: 7:92083887-92083887
GRCh38: 7:92454573-92454573
16 GATAD1 NM_021167.5(GATAD1):c.249+2T>C SNV Uncertain significance 228694 rs876657813 GRCh37: 7:92077294-92077294
GRCh38: 7:92447980-92447980
17 GATAD1 NM_021167.5(GATAD1):c.185C>T (p.Ala62Val) SNV Uncertain significance 567498 rs1562816344 GRCh37: 7:92077228-92077228
GRCh38: 7:92447914-92447914
18 GATAD1 NM_021167.5(GATAD1):c.157G>T (p.Gly53Trp) SNV Uncertain significance 574542 rs988478105 GRCh37: 7:92077200-92077200
GRCh38: 7:92447886-92447886
19 GATAD1 NM_021167.5(GATAD1):c.766A>G (p.Thr256Ala) SNV Uncertain significance 576375 rs778560008 GRCh37: 7:92085832-92085832
GRCh38: 7:92456518-92456518
20 GATAD1 NM_021167.5(GATAD1):c.109G>C (p.Gly37Arg) SNV Uncertain significance 578819 rs1562816200 GRCh37: 7:92077152-92077152
GRCh38: 7:92447838-92447838
21 GATAD1 NM_021167.5(GATAD1):c.512G>A (p.Arg171Lys) SNV Uncertain significance 581797 rs540654499 GRCh37: 7:92083892-92083892
GRCh38: 7:92454578-92454578
22 GATAD1 NM_021167.5(GATAD1):c.299A>G (p.Tyr100Cys) SNV Uncertain significance 638934 rs200072145 GRCh37: 7:92078115-92078115
GRCh38: 7:92448801-92448801
23 GATAD1 NM_021167.5(GATAD1):c.515G>C (p.Gly172Ala) SNV Uncertain significance 643238 rs1237515001 GRCh37: 7:92083895-92083895
GRCh38: 7:92454581-92454581
24 GATAD1 NM_021167.5(GATAD1):c.311C>T (p.Pro104Leu) SNV Uncertain significance 837705 GRCh37: 7:92078127-92078127
GRCh38: 7:92448813-92448813
25 GATAD1 NM_021167.5(GATAD1):c.431A>G (p.Tyr144Cys) SNV Uncertain significance 264373 rs200584566 GRCh37: 7:92080070-92080070
GRCh38: 7:92450756-92450756
26 GATAD1 NM_021167.5(GATAD1):c.681T>A (p.Ser227=) SNV Uncertain significance 518980 rs759247482 GRCh37: 7:92085747-92085747
GRCh38: 7:92456433-92456433
27 GATAD1 NM_021167.5(GATAD1):c.241G>A (p.Gly81Ser) SNV Uncertain significance 953858 GRCh37: 7:92077284-92077284
GRCh38: 7:92447970-92447970
28 GATAD1 NM_021167.5(GATAD1):c.406A>G (p.Ile136Val) SNV Uncertain significance 957756 GRCh37: 7:92080045-92080045
GRCh38: 7:92450731-92450731
29 GATAD1 NM_021167.5(GATAD1):c.117_131del (p.38_42GAGSG[1]) Deletion Uncertain significance 834582 GRCh37: 7:92077155-92077169
GRCh38: 7:92447841-92447855
30 GATAD1 NM_021167.5(GATAD1):c.308C>T (p.Ala103Val) SNV Uncertain significance 857748 GRCh37: 7:92078124-92078124
GRCh38: 7:92448810-92448810
31 GATAD1 NM_021167.5(GATAD1):c.151G>T (p.Gly51Trp) SNV Uncertain significance 933989 GRCh37: 7:92077194-92077194
GRCh38: 7:92447880-92447880
32 GATAD1 NM_021167.5(GATAD1):c.353G>A (p.Arg118Lys) SNV Uncertain significance 942669 GRCh37: 7:92078169-92078169
GRCh38: 7:92448855-92448855
33 GATAD1 NM_021167.5(GATAD1):c.276T>G (p.Ser92=) SNV Likely benign 45826 rs143082866 GRCh37: 7:92078092-92078092
GRCh38: 7:92448778-92448778
34 GATAD1 NM_021167.5(GATAD1):c.96T>G (p.His32Gln) SNV Likely benign 228696 rs532003876 GRCh37: 7:92077139-92077139
GRCh38: 7:92447825-92447825
35 GATAD1 NM_021167.5(GATAD1):c.48G>A (p.Ser16=) SNV Likely benign 137447 rs376686657 GRCh37: 7:92077091-92077091
GRCh38: 7:92447777-92447777
36 GATAD1 NM_021167.5(GATAD1):c.696A>G (p.Ser232=) SNV Likely benign 706621 rs199766577 GRCh37: 7:92085762-92085762
GRCh38: 7:92456448-92456448
37 GATAD1 NM_021167.5(GATAD1):c.192C>T (p.Thr64=) SNV Likely benign 540377 rs1176944795 GRCh37: 7:92077235-92077235
GRCh38: 7:92447921-92447921
38 GATAD1 NM_021167.5(GATAD1):c.176G>C (p.Gly59Ala) SNV Likely benign 163496 rs531449433 GRCh37: 7:92077219-92077219
GRCh38: 7:92447905-92447905
39 GATAD1 NM_021167.5(GATAD1):c.166_168GGC[5] (p.Gly59dup) Microsatellite Likely benign 228693 rs876657812 GRCh37: 7:92077206-92077207
GRCh38: 7:92447892-92447893
40 GATAD1 NM_021167.5(GATAD1):c.160G>A (p.Gly54Ser) SNV Benign 45825 rs10281879 GRCh37: 7:92077203-92077203
GRCh38: 7:92447889-92447889
41 GATAD1 NM_021167.5(GATAD1):c.697C>T (p.Arg233Trp) SNV Benign 45829 rs34768413 GRCh37: 7:92085763-92085763
GRCh38: 7:92456449-92456449
42 GATAD1 NM_021167.5(GATAD1):c.558G>A (p.Thr186=) SNV Benign 45828 rs141932124 GRCh37: 7:92083938-92083938
GRCh38: 7:92454624-92454624
43 GATAD1 NM_021167.5(GATAD1):c.762G>A (p.Gly254=) SNV Benign 137448 rs139637606 GRCh37: 7:92085828-92085828
GRCh38: 7:92456514-92456514

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

72
# Symbol AA change Variation ID SNP ID
1 GATAD1 p.Ser102Pro VAR_068556 rs387907188

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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