Cardiomyopathy, Dilated, 3b (CMD3B)

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

Aliases & Classifications for Cardiomyopathy, Dilated, 3b

MalaCards integrated aliases for Cardiomyopathy, Dilated, 3b:

Name: Cardiomyopathy, Dilated, 3b 57 13
X-Linked Dilated Cardiomyopathy 12 43 72 15
Dilated Cardiomyopathy 3b 12 43 29 6
Cmd3b 57 12 43 72
Dmd-Associated Dilated Cardiomyopathy 43 44 70
Xlcm 57 43 72
Dmd-Related Dilated Cardiomyopathy 12 43
Cardiomyopathy, Dilated, X-Linked 57 54
Cardiomyopathy, Dilated, X-Linked; Xlcm 57
Cardiomyopathy, Dilated, X-Linked 3b 72
Cardiomyopathy, Dilated, Type 3b 39
Xldc 43



57 (Updated 05-Apr-2021)


cardiomyopathy, dilated, 3b:
Inheritance x-linked inheritance


External Ids:

Disease Ontology 12 DOID:0110461
OMIM® 57 302045
OMIM Phenotypic Series 57 PS115200
ICD10 32 I42.0
SNOMED-CT via HPO 68 195021004 263934009 399020009
UMLS 70 C3668940

Summaries for Cardiomyopathy, Dilated, 3b

MedlinePlus Genetics : 43 X-linked dilated cardiomyopathy is a form of heart disease. Dilated cardiomyopathy enlarges and weakens the heart (cardiac) muscle, preventing the heart from pumping blood efficiently. Signs and symptoms of this condition can include an irregular heartbeat (arrhythmia), shortness of breath, extreme tiredness (fatigue), and swelling of the legs and feet. In males with X-linked dilated cardiomyopathy, heart problems usually develop early in life and worsen quickly, leading to heart failure in adolescence or early adulthood. In affected females, the condition appears later in life and worsens more slowly.X-linked dilated cardiomyopathy is part of a spectrum of related conditions caused by mutations in the DMD gene. The other conditions in the spectrum, Duchenne and Becker muscular dystrophy, are characterized by progressive weakness and wasting of muscles used for movement (skeletal muscles) in addition to heart disease. People with X-linked dilated cardiomyopathy typically do not have any skeletal muscle weakness or wasting, although they may have subtle changes in their skeletal muscle cells that are detectable through laboratory testing. Based on these skeletal muscle changes, X-linked dilated cardiomyopathy is sometimes classified as subclinical Becker muscular dystrophy.

MalaCards based summary : Cardiomyopathy, Dilated, 3b, also known as x-linked dilated cardiomyopathy, is related to dystrophinopathies and endocardial fibroelastosis. An important gene associated with Cardiomyopathy, Dilated, 3b is DMD (Dystrophin), and among its related pathways/superpathways are Allograft rejection and Dilated cardiomyopathy. Affiliated tissues include heart, skeletal muscle and brain, and related phenotypes are dilated cardiomyopathy and homeostasis/metabolism

Disease Ontology : 12 A dilated cardiomyopathy that has material basis in mutation in the gene encoding dystrophin (DMD) on chromosome Xp21, without skeletal muscle weakness or wasting.

UniProtKB/Swiss-Prot : 72 Cardiomyopathy, dilated, X-linked 3B: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.

More information from OMIM: 302045 PS115200

Related Diseases for Cardiomyopathy, Dilated, 3b

Diseases in the Rare Cardiomyopathy family:

Cardiomyopathy, Dilated, 1a Cardiomyopathy, Dilated, 3b
Cardiomyopathy, Dilated, 1b Cardiomyopathy, Dilated, 1e
Cardiomyopathy, Dilated, 1d Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1h Cardiomyopathy, Dilated, 1i
Cardiomyopathy, Dilated, 1j Cardiomyopathy, Dilated, 1k
Cardiomyopathy, Dilated, 1l Cardiomyopathy, Dilated, 1m
Cardiomyopathy, Dilated, 1o Cardiomyopathy, Dilated, 1p
Cardiomyopathy, Dilated, 1q Cardiomyopathy, Dilated, 1w
Cardiomyopathy, Dilated, 1x Cardiomyopathy, Dilated, 1z
Cardiomyopathy, Dilated, 2a Cardiomyopathy, Dilated, 1bb
Cardiomyopathy, Dilated, 1cc Cardiomyopathy, Dilated, 1dd
Cardiomyopathy, Dilated, 1ee Cardiomyopathy, Dilated, 1ff
Cardiomyopathy, Dilated, 1r Cardiomyopathy, Dilated, 1gg
Cardiomyopathy, Dilated, 1u Cardiomyopathy, Dilated, 1v
Cardiomyopathy, Dilated, 1hh Cardiomyopathy, Dilated, 2b
Cardiomyopathy, Dilated, 1ii Cardiomyopathy, Dilated, 1jj
Cardiomyopathy, Dilated, 1kk Cardiomyopathy, Dilated, 1nn
Cardiomyopathy, Dilated, 2c Autoimmune Cardiomyopathy
Dilated Cardiomyopathy 1t Dilated Cardiomyopathy
Lmna-Related Dilated Cardiomyopathy Cardiomyopathy Due to Anthracyclines

Diseases related to Cardiomyopathy, Dilated, 3b via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 83)
# Related Disease Score Top Affiliating Genes
1 dystrophinopathies 31.7 UTRN DMD
2 endocardial fibroelastosis 30.1 TAFAZZIN DMD
3 muscular dystrophy, duchenne type 29.8 UTRN SGCD SGCB SGCA DMD DAG1
4 dilated cardiomyopathy 29.5 TAFAZZIN SNTA1 SGCD SGCB SGCA MYOZ1
5 muscular dystrophy 28.5 UTRN SSPN SNTA1 SGCD SGCB SGCA
6 muscular dystrophy, becker type 28.3 UTRN SSPN SNTA1 SGCD SGCB SGCA
8 muscular dystrophy, duchenne and becker type 11.4
9 atrial standstill 1 10.8
10 qualitative or quantitative defects of dystrophin 10.5
11 familial isolated dilated cardiomyopathy 10.5
12 progressive muscular dystrophy 10.2 SGCA DMD
13 cytoplasmic body myopathy 10.2 UTRN DMD
14 mcleod syndrome 10.2 SGCA DMD
15 barth syndrome 10.2
16 congestive heart failure 10.2
17 cobblestone lissencephaly 10.1 DMD DAG1
18 gas gangrene 10.1 DMD DAG1
19 localized lipodystrophy 10.1 DYSF DMD
20 muscular dystrophy-dystroglycanopathy , type a, 4 10.1 SGCA DMD DAG1
21 muscular dystrophy, limb-girdle, autosomal recessive 7 10.1 DYSF DMD
22 progressive familial heart block, type ia 10.0
23 cardiac conduction defect 10.0
24 danon disease 10.0
25 metabolic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 10.0
26 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.0
27 atrioventricular block 10.0
28 organic acidemia 10.0
29 3-methylglutaconic aciduria 10.0
30 polymyositis 10.0
31 left bundle branch hemiblock 10.0
32 pulmonary edema 10.0
33 neutropenia 10.0
34 myocarditis 10.0
35 skeletal muscle disease 10.0
36 dysferlinopathy 10.0 SGCA DYSF
37 muscular dystrophy-dystroglycanopathy , type c, 4 10.0 DYSF DAG1
38 autosomal recessive limb-girdle muscular dystrophy type 2h 9.9 SGCD SGCA DYSF
39 emery-dreifuss muscular dystrophy 9.9 SGCA DYSF DMD
40 tibial muscular dystrophy 9.9 DYSF DMD
41 muscular dystrophy-dystroglycanopathy , type c, 9 9.9 SGCB DAG1
42 nonaka myopathy 9.9 DYSF DMD DAG1
43 rigid spine muscular dystrophy 1 9.9 DYSF DMD DAG1
44 rippling muscle disease 2 9.9 SSPN DYSF
45 intrinsic cardiomyopathy 9.8 TAFAZZIN SNTA1 SGCD DMD
46 myopathy, myofibrillar, 3 9.8 MYOZ1 DYSF DMD
47 congenital muscular dystrophy-dystroglycanopathy type a 9.8 SSPN SGCA DMD DAG1
48 facioscapulohumeral muscular dystrophy 1 9.8 SGCA DYSF DMD
49 cardiomyopathy, dilated, 1l 9.8 SGCD SGCB
50 x-linked monogenic disease 9.8 UTRN TAFAZZIN SGCA DMD DAG1

Graphical network of the top 20 diseases related to Cardiomyopathy, Dilated, 3b:

Diseases related to Cardiomyopathy, Dilated, 3b

Symptoms & Phenotypes for Cardiomyopathy, Dilated, 3b

Human phenotypes related to Cardiomyopathy, Dilated, 3b:

# Description HPO Frequency HPO Source Accession
1 dilated cardiomyopathy 31 HP:0001644

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
dilated cardiomyopathy

second decade onset in males
late onset in heterozygous females

Clinical features from OMIM®:

302045 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Cardiomyopathy, Dilated, 3b:

# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.65 CYRIB DAG1 DMD DYSF MYOZ1 SGCA
2 muscle MP:0005369 9.32 DAG1 DMD DYSF MYOZ1 SGCA SGCB

Drugs & Therapeutics for Cardiomyopathy, Dilated, 3b

Interventional clinical trials:

# Name Status NCT ID Phase Drugs
1 Prospective Cohort Study of Patients With Mutations in the Dystrophin Gene (X Linked Dilated Cardiomyopathy and Becker Muscular Dystrophy) Unknown status NCT02020954
2 CRT-P or CRT-D in Patients With Dilated Cardiomyopathy and Heart Failure Without LGE-CMR High-risk Markers Not yet recruiting NCT04139460

Search NIH Clinical Center for Cardiomyopathy, Dilated, 3b

Cochrane evidence based reviews: dmd-associated dilated cardiomyopathy

Genetic Tests for Cardiomyopathy, Dilated, 3b

Genetic tests related to Cardiomyopathy, Dilated, 3b:

# Genetic test Affiliating Genes
1 Dilated Cardiomyopathy 3b 29 DMD

Anatomical Context for Cardiomyopathy, Dilated, 3b

MalaCards organs/tissues related to Cardiomyopathy, Dilated, 3b:

Heart, Skeletal Muscle, Brain, Liver

Publications for Cardiomyopathy, Dilated, 3b

Articles related to Cardiomyopathy, Dilated, 3b:

(show top 50) (show all 98)
# Title Authors PMID Year
Evidence for a dystrophin missense mutation as a cause of X-linked dilated cardiomyopathy. 61 57 54 6
9170407 1997
A point mutation in the 5' splice site of the dystrophin gene first intron responsible for X-linked dilated cardiomyopathy. 57 61 6
8789442 1996
Brief report: deletion of the dystrophin muscle-promoter region associated with X-linked dilated cardiomyopathy. 57 6 61
8361506 1993
X-linked dilated cardiomyopathy. Molecular genetic evidence of linkage to the Duchenne muscular dystrophy (dystrophin) gene at the Xp21 locus. 61 6 57
8504498 1993
Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort. 61 6 54
19937601 2009
Danon disease presenting with dilated cardiomyopathy and a complex phenotype. 54 61 57
17899313 2007
A novel Alu-like element rearranged in the dystrophin gene causes a splicing mutation in a family with X-linked dilated cardiomyopathy. 54 6 61
9683584 1998
The mouse dystrophin muscle enhancer-1 imparts skeletal muscle, but not cardiac muscle, expression onto the dystrophin Purkinje promoter in transgenic mice. 57 61
15385445 2004
Dystrophin muscle enhancer 1 is implicated in the activation of non-muscle isoforms in the skeletal muscle of patients with X-linked dilated cardiomyopathy. 61 57
11726549 2001
Transcription of the dystrophin gene in normal tissues and in skeletal muscle of a family with X-linked dilated cardiomyopathy. 61 6
7825571 1995
X-linked dilated cardiomyopathy. 6 61
8123157 1994
X-linked dilated cardiomyopathy. 61 57
3574369 1987
Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan. 6
28859693 2017
The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States. 6
27708273 2017
A case report with the peculiar concomitance of 2 different genetic syndromes. 6
27930565 2016
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 6
25525159 2015
MLPA-based genotype-phenotype analysis in 1053 Chinese patients with DMD/BMD. 6
23453023 2013
Rapid, comprehensive analysis of the dystrophin transcript by a custom micro-fluidic exome array. 6
22223181 2012
DMD Trp3X nonsense mutation associated with a founder effect in North American families with mild Becker muscular dystrophy. 6
19793655 2009
DMD exon 1 truncating point mutations: amelioration of phenotype by alternative translation initiation in exon 6. 6
19206170 2009
Array-MLPA: comprehensive detection of deletions and duplications and its application to DMD patients. 6
17854090 2008
Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy. 6
17259292 2007
Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading-frame rule. 6
16770791 2006
Dilated cardiomyopathy and new 16 bp deletion in exon 44 of the Dystrophin gene: the possible role of repeated motifs in mutation generation. 6
12794683 2003
An intact cysteine-rich domain is required for dystrophin function. 6
1644931 1992
Idiopathic familial myocardiopathy in three generations: a clinical and pathologic study. 57
676978 1978
Welcome to the team! 6
1047858 1976
Familial cardiomyopathy. 57
975127 1976
Familial cardiomegaly. 57
18113470 1949
Dystrophin: from non-ischemic cardiomyopathy to ischemic cardiomyopathy. 61 54
18562127 2008
Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization. 61 54
18752307 2008
In vivo study of an aberrant dystrophin exon inclusion in X-linked dilated cardiomyopathy. 54 61
15094399 2004
The dystrophin glycoprotein complex: signaling strength and integrity for the sarcolemma. 61 54
15117830 2004
Dystrophin and mutations: one gene, several proteins, multiple phenotypes. 54 61
14636778 2003
Tempo and mode of evolution of a primate-specific retrotransposon belonging to the LINE 1 family. 54 61
15008424 2003
[Genetics of dilated cardiomyopathy]. 61 54
11515275 2001
Association of nonsense mutation of dystrophin gene with disruption of sarcoglycan complex in X-linked dilated cardiomyopathy. 61 54
10832829 2000
The "final common pathway" hypothesis and inherited cardiovascular disease. The role of cytoskeletal proteins in dilated cardiomyopathy. 54 61
10904835 2000
Advances in molecular genetics of dilated cardiomyopathy. The Heart Muscle Disease Study Group. 54 61
9891591 1998
Insertional mutation by transposable element, L1, in the DMD gene results in X-linked dilated cardiomyopathy. 61 54
9618170 1998
The role of cytoskeletal proteins in cardiomyopathies. 54 61
9484605 1998
Dystrophinopathy, the expanding phenotype. Dystrophin abnormalities in X-linked dilated cardiomyopathy. 54 61
9170393 1997
Generation of genomic-integration-free human induced pluripotent stem cells and the derived cardiomyocytes of X-linked dilated cardiomyopathy from DMD gene mutation. 61
33099108 2020
X-linked dilated cardiomyopathy: the important role of genetic tests and imaging in the early diagnosis and treatment. 61
32508136 2020
What are the effects of treatments used to prevent or treat heart complications in Duchenne muscular dystrophy, Becker muscular dystrophy, and X-linked dilated cardiomyopathy? A Cochrane Review summary with commentary. 61
32427344 2020
A case report: X-linked dystrophin gene mutation causing severe isolated dilated cardiomyopathy. 61
31449615 2019
Are there real benefits to implanting cardiac devices in patients with end-stage dilated dystrophinopathic cardiomyopathy? Review of literature and personal results. 61
31309174 2019
Interventions for preventing and treating cardiac complications in Duchenne and Becker muscular dystrophy and X-linked dilated cardiomyopathy. 61
30326162 2018
X-Linked Dilated Cardiomyopathy Presenting as Acute Rhabdomyolysis and Presumed Epstein-Barr Virus-Induced Viral Myocarditis: A Case Report. 61
29891833 2018
A novel DMD splicing mutation found in a family responsible for X-linked dilated cardiomyopathy with hyper-CKemia. 61
29901616 2018

Variations for Cardiomyopathy, Dilated, 3b

ClinVar genetic disease variations for Cardiomyopathy, Dilated, 3b:

6 (show top 50) (show all 262)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DMD DMD, EX1DEL Deletion Pathogenic 11231 GRCh37:
2 DMD NM_000109.4(DMD):c.811A>G (p.Thr271Ala) SNV Pathogenic 11279 rs128627255 GRCh37: X:32716112-32716112
GRCh38: X:32697995-32697995
3 DMD DMD, ALU INS Insertion Pathogenic 11281 GRCh37:
4 DMD DMD, 16-BP DEL Deletion Pathogenic 11285 GRCh37:
5 DMD Duplication Pathogenic 560062 GRCh37: X:31947471-31972601
6 DMD NM_004006.2(DMD):c.10247G>A (p.Trp3416Ter) SNV Pathogenic 374132 rs201217593 GRCh37: X:31196064-31196064
GRCh38: X:31177947-31177947
7 DMD NM_004006.2(DMD):c.8800G>T (p.Glu2934Ter) SNV Pathogenic 689489 rs1603222556 GRCh37: X:31496360-31496360
GRCh38: X:31478243-31478243
8 DMD NM_004006.2(DMD):c.1093C>T (p.Gln365Ter) SNV Pathogenic 193663 rs794726993 GRCh37: X:32663137-32663137
GRCh38: X:32645020-32645020
9 DMD NM_004006.2(DMD):c.10086+1G>A SNV Pathogenic 94422 rs398123828 GRCh37: X:31198486-31198486
GRCh38: X:31180369-31180369
10 DMD NM_004006.3(DMD):c.4375del (p.Arg1459fs) Deletion Pathogenic 930423 GRCh37: X:32407761-32407761
GRCh38: X:32389644-32389644
11 DMD NM_004006.3(DMD):c.10210dup (p.Asp3404fs) Duplication Pathogenic 931458 GRCh37: X:31196798-31196799
GRCh38: X:31178681-31178682
12 DMD NM_004006.2(DMD):c.1637G>A (p.Trp546Ter) SNV Pathogenic 374191 rs1057518962 GRCh37: X:32591929-32591929
GRCh38: X:32573812-32573812
13 DMD NM_004006.3(DMD):c.4345-3C>G SNV Pathogenic 931998 GRCh37: X:32407794-32407794
GRCh38: X:32389677-32389677
14 DMD NM_004006.2(DMD):c.93+1G>C SNV Pathogenic 523470 rs886042604 GRCh37: X:33038255-33038255
GRCh38: X:33020138-33020138
15 DMD NM_004006.2(DMD):c.5287C>T (p.Arg1763Ter) SNV Pathogenic 94658 rs398123981 GRCh37: X:32380943-32380943
GRCh38: X:32362826-32362826
16 DMD NM_004006.2(DMD):c.9568C>T (p.Arg3190Ter) SNV Pathogenic 11282 rs104894797 GRCh37: X:31224780-31224780
GRCh38: X:31206663-31206663
17 DMD NM_004006.2(DMD):c.8713C>T (p.Arg2905Ter) SNV Pathogenic 11288 rs128627256 GRCh37: X:31496447-31496447
GRCh38: X:31478330-31478330
18 DMD NM_004006.2(DMD):c.10171C>T (p.Arg3391Ter) SNV Pathogenic 94428 rs398123832 GRCh37: X:31196838-31196838
GRCh38: X:31178721-31178721
19 DMD NM_004006.2(DMD):c.31+1G>T SNV Pathogenic 94554 rs398123923 GRCh37: X:33229398-33229398
GRCh38: X:33211281-33211281
20 DMD NM_004006.2(DMD):c.3151C>T (p.Arg1051Ter) SNV Pathogenic 94576 rs398123929 GRCh37: X:32486626-32486626
GRCh38: X:32468509-32468509
21 DMD NM_004020.3(DMD):c.2843+9127del Deletion Pathogenic 94436 rs398123839 GRCh37: X:31187659-31187659
GRCh38: X:31169542-31169542
22 DMD NM_004006.2(DMD):c.9G>A (p.Trp3Ter) SNV Pathogenic 29962 rs398122853 GRCh37: X:33229421-33229421
GRCh38: X:33211304-33211304
23 DMD NM_004006.3(DMD):c.1812+1G>A SNV Likely pathogenic 162497 rs373286166 GRCh37: X:32591646-32591646
GRCh38: X:32573529-32573529
24 DMD NM_004006.3(DMD):c.9980_9981insTAG (p.Arg3327_Ser3328insSer) Insertion Likely pathogenic 931978 GRCh37: X:31198592-31198593
GRCh38: X:31180475-31180476
25 DMD NM_004010.3(DMD):c.-193del Deletion Likely pathogenic 374010 rs1057518834 GRCh37: X:32867854-32867854
GRCh38: X:32849737-32849737
26 DMD NM_004006.2(DMD):c.2804-1G>T SNV Likely pathogenic 455886 rs398123909 GRCh37: X:32490427-32490427
GRCh38: X:32472310-32472310
27 DMD NM_004006.2(DMD):c.5586+9G>A SNV Conflicting interpretations of pathogenicity 94674 rs200025478 GRCh37: X:32364051-32364051
GRCh38: X:32345934-32345934
28 DMD NM_004006.2(DMD):c.9352G>T (p.Ala3118Ser) SNV Uncertain significance 520520 rs200928985 GRCh37: X:31241173-31241173
GRCh38: X:31223056-31223056
29 DMD NM_004006.2(DMD):c.3951G>A (p.Glu1317=) SNV Uncertain significance 239604 rs199643655 GRCh37: X:32456478-32456478
GRCh38: X:32438361-32438361
30 DMD NM_004006.2(DMD):c.5869C>T (p.Arg1957Trp) SNV Uncertain significance 201753 rs755477994 GRCh37: X:32360270-32360270
GRCh38: X:32342153-32342153
31 DMD NM_004006.2(DMD):c.2330T>C (p.Leu777Pro) SNV Uncertain significance 194952 rs794727226 GRCh37: X:32519922-32519922
GRCh38: X:32501805-32501805
32 DMD NM_004006.2(DMD):c.10262+1G>A SNV Uncertain significance 94433 rs145603325 GRCh37: X:31196048-31196048
GRCh38: X:31177931-31177931
33 DMD NM_004006.2(DMD):c.8974G>A (p.Val2992Met) SNV Uncertain significance 201741 rs201691420 GRCh37: X:31462708-31462708
GRCh38: X:31444591-31444591
34 DMD NM_004006.3(DMD):c.7521C>T (p.Asn2507=) SNV Uncertain significance 284947 rs112516305 GRCh37: X:31792098-31792098
GRCh38: X:31773981-31773981
35 DMD NM_004006.2(DMD):c.8509G>A (p.Asp2837Asn) SNV Uncertain significance 368236 rs965718917 GRCh37: X:31514943-31514943
GRCh38: X:31496826-31496826
36 DMD NM_004006.2(DMD):c.1518G>T (p.Arg506Ser) SNV Uncertain significance 382214 rs755456119 GRCh37: X:32613958-32613958
GRCh38: X:32595841-32595841
37 DMD NM_004006.2(DMD):c.2199C>T (p.Ser733=) SNV Uncertain significance 166856 rs149882431 GRCh37: X:32536218-32536218
GRCh38: X:32518101-32518101
38 DMD NM_004006.2(DMD):c.2117C>A (p.Pro706Gln) SNV Uncertain significance 191244 rs781015830 GRCh37: X:32563327-32563327
GRCh38: X:32545210-32545210
39 DMD NM_004006.3(DMD):c.2245A>G (p.Ile749Val) SNV Uncertain significance 226049 rs771803281 GRCh37: X:32536172-32536172
GRCh38: X:32518055-32518055
40 DMD NM_004006.2(DMD):c.3921+12A>G SNV Uncertain significance 368246 rs760373690 GRCh37: X:32459285-32459285
GRCh38: X:32441168-32441168
41 DMD NM_004006.2(DMD):c.5933G>T (p.Arg1978Leu) SNV Uncertain significance 201736 rs148135406 GRCh37: X:32328383-32328383
GRCh38: X:32310266-32310266
42 DMD NM_004006.2(DMD):c.6828C>T (p.Pro2276=) SNV Uncertain significance 94747 rs72466595 GRCh37: X:31947797-31947797
GRCh38: X:31929680-31929680
43 DMD NM_004006.2(DMD):c.3030G>A (p.Ala1010=) SNV Uncertain significance 518156 rs72468666 GRCh37: X:32486747-32486747
GRCh38: X:32468630-32468630
44 DMD NM_000109.4(DMD):c.6385G>C (p.Glu2129Gln) SNV Uncertain significance 455918 rs1023328955 GRCh37: X:32235062-32235062
GRCh38: X:32216945-32216945
45 DMD NM_004006.2(DMD):c.9479G>A (p.Arg3160His) SNV Uncertain significance 284712 rs771392678 GRCh37: X:31227699-31227699
GRCh38: X:31209582-31209582
46 DMD NM_004006.3(DMD):c.5485C>G (p.Gln1829Glu) SNV Uncertain significance 264026 rs754765424 GRCh37: X:32364161-32364161
GRCh38: X:32346044-32346044
47 DMD NM_004006.2(DMD):c.2617T>C (p.Cys873Arg) SNV Uncertain significance 382670 rs200872948 GRCh37: X:32509399-32509399
GRCh38: X:32491282-32491282
48 DMD NM_000109.4(DMD):c.1700T>C (p.Leu567Pro) SNV Uncertain significance 161220 rs370644567 GRCh37: X:32591735-32591735
GRCh38: X:32573618-32573618
49 DMD NM_004006.2(DMD):c.530+7A>T SNV Uncertain significance 368253 rs72470523 GRCh37: X:32834578-32834578
GRCh38: X:32816461-32816461
50 DMD NM_000109.4(DMD):c.5465G>T (p.Arg1822Ile) SNV Uncertain significance 374948 rs369055628 GRCh37: X:32364157-32364157
GRCh38: X:32346040-32346040

UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Dilated, 3b:

# Symbol AA change Variation ID SNP ID
1 DMD p.Lys18Asn VAR_023537
2 DMD p.Thr279Ala VAR_023540
3 DMD p.Phe3228Leu VAR_023544

Expression for Cardiomyopathy, Dilated, 3b

Search GEO for disease gene expression data for Cardiomyopathy, Dilated, 3b.

Pathways for Cardiomyopathy, Dilated, 3b

Pathways related to Cardiomyopathy, Dilated, 3b according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
Show member pathways
Show member pathways

GO Terms for Cardiomyopathy, Dilated, 3b

Cellular components related to Cardiomyopathy, Dilated, 3b according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.28 UTRN TAFAZZIN SSPN SNTA1 SGCD SGCB
2 plasma membrane GO:0005886 10.2 UTRN SSPN SNTA1 SGCD SGCB SGCA
3 cell junction GO:0030054 9.92 UTRN SSPN SNTA1 DMD DAG1
4 cytoskeleton GO:0005856 9.91 UTRN SNTA1 SGCD SGCB SGCA DMD
5 synapse GO:0045202 9.88 UTRN SSPN SNTA1 DMD DAG1
6 membrane raft GO:0045121 9.73 SGCA DMD DAG1
7 postsynaptic membrane GO:0045211 9.72 UTRN SSPN SNTA1 DMD DAG1
8 filopodium GO:0030175 9.63 UTRN DMD DAG1
9 dystrophin-associated glycoprotein complex GO:0016010 9.56 UTRN SSPN SNTA1 SGCD SGCB SGCA
10 costamere GO:0043034 9.51 DMD DAG1
11 filopodium membrane GO:0031527 9.49 UTRN DMD
12 contractile ring GO:0070938 9.43 UTRN DAG1
13 sarcoglycan complex GO:0016012 9.43 SGCD SGCB SGCA
14 syntrophin complex GO:0016013 9.4 SNTA1 DMD
15 dystroglycan complex GO:0016011 9.33 SGCB SGCA DAG1
16 sarcolemma GO:0042383 9.28 UTRN SSPN SNTA1 SGCD SGCB SGCA

Biological processes related to Cardiomyopathy, Dilated, 3b according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 muscle organ development GO:0007517 9.55 UTRN SGCD SGCB SGCA DMD
2 skeletal muscle tissue development GO:0007519 9.54 TAFAZZIN MYOZ1 DMD
3 cardiac muscle contraction GO:0060048 9.51 TAFAZZIN DMD
4 positive regulation of cell-matrix adhesion GO:0001954 9.5 UTRN DMD DAG1
5 neuromuscular junction development GO:0007528 9.49 UTRN SNTA1
6 regulation of heart rate GO:0002027 9.48 SNTA1 DMD
7 cardiac muscle tissue development GO:0048738 9.46 TAFAZZIN SGCD
8 muscle fiber development GO:0048747 9.43 SGCB DMD
9 skeletal muscle tissue regeneration GO:0043403 9.43 SGCA DMD DAG1
10 negative regulation of peptidyl-cysteine S-nitrosylation GO:1902083 9.4 SNTA1 DMD
11 response to denervation involved in regulation of muscle adaptation GO:0014894 9.26 UTRN SGCA DMD DAG1
12 muscle contraction GO:0006936 9.1 UTRN TAFAZZIN SSPN SNTA1 SGCA DYSF

Molecular functions related to Cardiomyopathy, Dilated, 3b according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin binding GO:0003779 9.35 UTRN SNTA1 MYOZ1 DMD DAG1
2 structural constituent of muscle GO:0008307 9.32 DMD DAG1
3 nitric-oxide synthase binding GO:0050998 9.26 SNTA1 DMD
4 dystroglycan binding GO:0002162 9.16 DMD DAG1
5 vinculin binding GO:0017166 8.8 UTRN DMD DAG1

Sources for Cardiomyopathy, Dilated, 3b

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
69 Tocris
71 UMLS via Orphanet
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