CMD3B
MCID: CRD187
MIFTS: 45

Cardiomyopathy, Dilated, 3b (CMD3B)

Categories: Blood diseases, Bone diseases, Cardiovascular diseases, Ear diseases, Genetic diseases, Immune diseases, Neuronal diseases, Rare diseases, Respiratory 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 25 74 15
Dilated Cardiomyopathy 3b 12 25 29 6
Cmd3b 57 12 25 74
Dmd-Associated Dilated Cardiomyopathy 25 44 72
Xlcm 57 25 74
Dmd-Related Dilated Cardiomyopathy 12 25
Cardiomyopathy, Dilated, X-Linked 57 55
Cardiomyopathy, Dilated, X-Linked; Xlcm 57
Cardiomyopathy, Dilated, X-Linked 3b 74
Cardiomyopathy, Dilated, Type 3b 40
Xldc 25

Characteristics:

OMIM:

57
Inheritance:
x-linked


HPO:

32
cardiomyopathy, dilated, 3b:
Inheritance x-linked inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110461
ICD10 33 I42.0
UMLS 72 C3668940

Summaries for Cardiomyopathy, Dilated, 3b

Genetics Home Reference : 25 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. DMD

MalaCards based summary : Cardiomyopathy, Dilated, 3b, also known as x-linked dilated cardiomyopathy, is related to atrial standstill 1 and muscular dystrophy, becker type. An important gene associated with Cardiomyopathy, Dilated, 3b is DMD (Dystrophin), and among its related pathways/superpathways are Allograft rejection and Arrhythmogenic right ventricular cardiomyopathy (ARVC). Affiliated tissues include heart, skeletal muscle and testes, and related phenotype is dilated cardiomyopathy.

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 : 74 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
Cardiomyopathy Due to Anthracyclines

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

(show all 39)
# Related Disease Score Top Affiliating Genes
1 atrial standstill 1 31.1 TAZ DMD
2 muscular dystrophy, becker type 30.4 SGCA DMD
3 muscular dystrophy 29.8 SGCD SGCA DMD
4 familial isolated dilated cardiomyopathy 29.8 TAZ SGCD DMD
5 dilated cardiomyopathy 29.6 TAZ SGCD SGCA DMD
6 muscular dystrophy, duchenne and becker type 11.9
7 dystrophinopathies 11.3
8 qualitative or quantitative defects of dystrophin 10.5
9 muscular dystrophy, duchenne type 10.4
10 myopathy 10.4
11 congestive heart failure 10.4
12 barth syndrome 10.2
13 autosomal recessive limb-girdle muscular dystrophy type 2b 10.0 SGCA DMD
14 progressive familial heart block, type ia 10.0
15 danon disease 10.0
16 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.0
17 atrioventricular block 10.0
18 organic acidemia 10.0
19 3-methylglutaconic aciduria 10.0
20 left bundle branch hemiblock 10.0
21 pulmonary edema 10.0
22 neutropenia 10.0
23 myocarditis 10.0
24 polymyositis 10.0
25 syncope 10.0
26 skeletal muscle disease 10.0
27 muscular dystrophy, congenital merosin-deficient, 1a 10.0 SGCA DMD
28 mcleod syndrome 10.0 SGCA DMD
29 walker-warburg syndrome 9.9 SGCA DMD
30 left ventricular noncompaction 9.8 TAZ DMD
31 autosomal recessive limb-girdle muscular dystrophy type 2f 9.7 SGCD SGCA
32 autosomal recessive limb-girdle muscular dystrophy type 2d 9.7 SGCD SGCA
33 arrhythmogenic right ventricular cardiomyopathy 9.6 SGCA DMD
34 autosomal recessive limb-girdle muscular dystrophy 9.4 SGCD SGCA DMD
35 autosomal recessive limb-girdle muscular dystrophy type 2c 9.4 SGCD SGCA DMD
36 limb-girdle muscular dystrophy 9.4 SGCD SGCA DMD
37 muscular dystrophy, limb-girdle, autosomal recessive 6 9.4 SGCD SGCA DMD
38 muscle tissue disease 9.3 SGCD SGCA DMD
39 muscular disease 8.9 TAZ SGCD SGCA DMD

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:

32
# Description HPO Frequency HPO Source Accession
1 dilated cardiomyopathy 32 HP:0001644

Symptoms via clinical synopsis from OMIM:

57
Cardiac:
dilated cardiomyopathy

Misc:
second decade onset in males
late onset in heterozygous females

Clinical features from OMIM:

302045

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 A Registered Cohort Study on Duchenne Muscular Dystrophy Recruiting NCT04012671
3 Biomarker for Duchenne Disease AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Recruiting NCT02994030

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:

41
Heart, Skeletal Muscle, Testes, Brain, Liver

Publications for Cardiomyopathy, Dilated, 3b

Articles related to Cardiomyopathy, Dilated, 3b:

(show top 50) (show all 83)
# Title Authors PMID Year
1
Evidence for a dystrophin missense mutation as a cause of X-linked dilated cardiomyopathy. 9 38 8 71
9170407 1997
2
A point mutation in the 5' splice site of the dystrophin gene first intron responsible for X-linked dilated cardiomyopathy. 38 8 71
8789442 1996
3
Brief report: deletion of the dystrophin muscle-promoter region associated with X-linked dilated cardiomyopathy. 38 8 71
8361506 1993
4
Danon disease presenting with dilated cardiomyopathy and a complex phenotype. 9 38 8
17899313 2007
5
A novel Alu-like element rearranged in the dystrophin gene causes a splicing mutation in a family with X-linked dilated cardiomyopathy. 9 38 71
9683584 1998
6
The mouse dystrophin muscle enhancer-1 imparts skeletal muscle, but not cardiac muscle, expression onto the dystrophin Purkinje promoter in transgenic mice. 38 8
15385445 2004
7
Dystrophin muscle enhancer 1 is implicated in the activation of non-muscle isoforms in the skeletal muscle of patients with X-linked dilated cardiomyopathy. 38 8
11726549 2001
8
Transcription of the dystrophin gene in normal tissues and in skeletal muscle of a family with X-linked dilated cardiomyopathy. 38 71
7825571 1995
9
X-linked dilated cardiomyopathy. 38 71
8123157 1994
10
X-linked dilated cardiomyopathy. Molecular genetic evidence of linkage to the Duchenne muscular dystrophy (dystrophin) gene at the Xp21 locus. 38 8
8504498 1993
11
X-linked dilated cardiomyopathy. 38 8
3574369 1987
12
Dilated cardiomyopathy and new 16 bp deletion in exon 44 of the Dystrophin gene: the possible role of repeated motifs in mutation generation. 71
12794683 2003
13
Dystrophinopathies 71
20301298 2000
14
An intact cysteine-rich domain is required for dystrophin function. 71
1644931 1992
15
Idiopathic familial myocardiopathy in three generations: a clinical and pathologic study. 8
676978 1978
16
Familial cardiomyopathy. 8
975127 1976
17
Familial cardiomegaly. 8
18113470 1949
18
Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort. 9 38
19937601 2009
19
Dystrophin: from non-ischemic cardiomyopathy to ischemic cardiomyopathy. 9 38
18562127 2008
20
Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization. 9 38
18752307 2008
21
In vivo study of an aberrant dystrophin exon inclusion in X-linked dilated cardiomyopathy. 9 38
15094399 2004
22
The dystrophin glycoprotein complex: signaling strength and integrity for the sarcolemma. 9 38
15117830 2004
23
Dystrophin and mutations: one gene, several proteins, multiple phenotypes. 9 38
14636778 2003
24
Tempo and mode of evolution of a primate-specific retrotransposon belonging to the LINE 1 family. 9 38
15008424 2003
25
[Genetics of dilated cardiomyopathy]. 9 38
11515275 2001
26
Association of nonsense mutation of dystrophin gene with disruption of sarcoglycan complex in X-linked dilated cardiomyopathy. 9 38
10832829 2000
27
The "final common pathway" hypothesis and inherited cardiovascular disease. The role of cytoskeletal proteins in dilated cardiomyopathy. 9 38
10904835 2000
28
Advances in molecular genetics of dilated cardiomyopathy. The Heart Muscle Disease Study Group. 9 38
9891591 1998
29
Insertional mutation by transposable element, L1, in the DMD gene results in X-linked dilated cardiomyopathy. 9 38
9618170 1998
30
The role of cytoskeletal proteins in cardiomyopathies. 9 38
9484605 1998
31
Dystrophinopathy, the expanding phenotype. Dystrophin abnormalities in X-linked dilated cardiomyopathy. 9 38
9170393 1997
32
Are there real benefits to implanting cardiac devices in patients with end-stage dilated dystrophinopathic cardiomyopathy? Review of literature and personal results. 38
31309174 2019
33
Interventions for preventing and treating cardiac complications in Duchenne and Becker muscular dystrophy and X-linked dilated cardiomyopathy. 38
30326162 2018
34
A novel DMD splicing mutation found in a family responsible for X-linked dilated cardiomyopathy with hyper-CKemia. 38
29901616 2018
35
X-Linked Dilated Cardiomyopathy Presenting as Acute Rhabdomyolysis and Presumed Epstein-Barr Virus-Induced Viral Myocarditis: A Case Report. 38
29891833 2018
36
Cardiac Involvement in Duchenne Muscular Dystrophy and Related Dystrophinopathies. 38
29067654 2018
37
Transcriptional and epigenetic analyses of the DMD locus reveal novel cis‑acting DNA elements that govern muscle dystrophin expression. 38
28867298 2017
38
Dystrophic Cardiomyopathy: Complex Pathobiological Processes to Generate Clinical Phenotype. 38
29367543 2017
39
Heart transplantation in patients with dystrophinopathic cardiomyopathy: Review of the literature and personal series. 38
28580208 2017
40
Dystrophin-Deficient Cardiomyopathy. 38
27230049 2016
41
Novel Rod Domain Duplication in Dystrophin Resulting in X-Linked Dilated Cardiomyopathy. 38
26294044 2015
42
X-Linked Dilated Cardiomyopathy: A Cardiospecific Phenotype of Dystrophinopathy. 38
26066469 2015
43
[Anesthetic Management for Endoscopic Sinus Surgery in a Patient with Transplanted Heart--A Case Report]. 38
26121809 2015
44
Missense mutation Lys18Asn in dystrophin that triggers X-linked dilated cardiomyopathy decreases protein stability, increases protein unfolding, and perturbs protein structure, but does not affect protein function. 38
25340340 2014
45
NGS identifies TAZ mutation in a family with X-linked dilated cardiomyopathy. 38
23345479 2013
46
The medical genetics of dystrophinopathies: molecular genetic diagnosis and its impact on clinical practice. 38
23116935 2013
47
Isolated cardiomyopathy caused by a DMD nonsense mutation in somatic mosaicism: genetic normalization in skeletal muscle. 38
22092019 2012
48
The absence of dystrophin brain isoform expression in healthy human heart ventricles explains the pathogenesis of 5' X-linked dilated cardiomyopathy. 38
22455600 2012
49
Antisense modulation of both exonic and intronic splicing motifs induces skipping of a DMD pseudo-exon responsible for x-linked dilated cardiomyopathy. 38
20486769 2010
50
Analysis of dystrophin deletion mutations predicts age of cardiomyopathy onset in becker muscular dystrophy. 38
20031633 2009

Variations for Cardiomyopathy, Dilated, 3b

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

6 (show top 50) (show all 146)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 DMD duplication Pathogenic X:31947471-31972601 :0-0
2 DMD DMD, EX1DEL deletion Pathogenic
3 DMD NM_004006.2(DMD): c.835A> G (p.Thr279Ala) single nucleotide variant Pathogenic rs128627255 X:32716112-32716112 X:32697995-32697995
4 DMD DMD, ALU INS insertion Pathogenic
5 DMD NM_004006.2(DMD): c.9568C> T (p.Arg3190Ter) single nucleotide variant Pathogenic rs104894797 X:31224780-31224780 X:31206663-31206663
6 DMD DMD, 16-BP DEL deletion Pathogenic
7 DMD NM_004006.2(DMD): c.8713C> T (p.Arg2905Ter) single nucleotide variant Pathogenic rs128627256 X:31496447-31496447 X:31478330-31478330
8 DMD NM_004006.2(DMD): c.10171C> T (p.Arg3391Ter) single nucleotide variant Pathogenic rs398123832 X:31196838-31196838 X:31178721-31178721
9 DMD NM_004006.2(DMD): c.31+1G> T single nucleotide variant Pathogenic rs398123923 X:33229398-33229398 X:33211281-33211281
10 DMD NM_004006.2(DMD): c.3151C> T (p.Arg1051Ter) single nucleotide variant Pathogenic rs398123929 X:32486626-32486626 X:32468509-32468509
11 DMD NM_004006.2(DMD): c.10247G> A (p.Trp3416Ter) single nucleotide variant Pathogenic/Likely pathogenic rs201217593 X:31196064-31196064 X:31177947-31177947
12 DMD NM_004006.2(DMD): c.3921+12A> G single nucleotide variant Conflicting interpretations of pathogenicity rs760373690 X:32459285-32459285 X:32441168-32441168
13 DMD NM_004006.2(DMD): c.10262+1G> A single nucleotide variant Conflicting interpretations of pathogenicity rs145603325 X:31196048-31196048 X:31177931-31177931
14 DMD NM_004006.2(DMD): c.10789C> T (p.Leu3597=) single nucleotide variant Conflicting interpretations of pathogenicity rs1800281 X:31165400-31165400 X:31147283-31147283
15 TAZ NM_000116.5(TAZ): c.504G> A (p.Lys168=) single nucleotide variant Conflicting interpretations of pathogenicity rs1057515818 X:153647925-153647925 X:154419586-154419586
16 DMD NM_004006.2(DMD): c.3666T> C (p.Asn1222=) single nucleotide variant Conflicting interpretations of pathogenicity rs373281760 X:32466693-32466693 X:32448576-32448576
17 DMD NM_004006.2(DMD): c.8571T> C (p.Thr2857=) single nucleotide variant Conflicting interpretations of pathogenicity rs72466570 X:31497197-31497197 X:31479080-31479080
18 DMD NM_004006.2(DMD): c.6471T> A (p.Thr2157=) single nucleotide variant Conflicting interpretations of pathogenicity rs377080659 X:31986599-31986599 X:31968482-31968482
19 DMD NM_004006.2(DMD): c.7151C> A (p.Ser2384Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs185706283 X:31854884-31854884 X:31836767-31836767
20 DMD NM_004006.2(DMD): c.7183G> A (p.Ala2395Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs72466590 X:31854852-31854852 X:31836735-31836735
21 PKP2 NM_004572.3(PKP2): c.1468C> T (p.Arg490Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs149930872 12:32996158-32996158 12:32843224-32843224
22 DMD NM_004006.2(DMD): c.295A> G (p.Ile99Val) single nucleotide variant Conflicting interpretations of pathogenicity rs149428656 X:32841474-32841474 X:32823357-32823357
23 DMD NM_004006.2(DMD): c.9564-5A> G single nucleotide variant Conflicting interpretations of pathogenicity rs201390145 X:31224789-31224789 X:31206672-31206672
24 DMD NM_004006.2(DMD): c.5933G> T (p.Arg1978Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs148135406 X:32328383-32328383 X:32310266-32310266
25 DMD NM_004006.2(DMD): c.2245A> G (p.Ile749Val) single nucleotide variant Conflicting interpretations of pathogenicity rs771803281 X:32536172-32536172 X:32518055-32518055
26 DMD NM_004006.2(DMD): c.3603+8A> G single nucleotide variant Conflicting interpretations of pathogenicity rs193249735 X:32472771-32472771 X:32454654-32454654
27 DMD NM_004006.2(DMD): c.4744G> A (p.Val1582Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs398123965 X:32398728-32398728 X:32380611-32380611
28 DMD NM_004006.2(DMD): c.5586+9G> A single nucleotide variant Conflicting interpretations of pathogenicity rs200025478 X:32364051-32364051 X:32345934-32345934
29 DMD NM_004006.2(DMD): c.5620G> A (p.Glu1874Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs142441725 X:32361370-32361370 X:32343253-32343253
30 DMD NM_004006.2(DMD): c.9486G> A (p.Glu3162=) single nucleotide variant Conflicting interpretations of pathogenicity rs370724251 X:31227692-31227692 X:31209575-31209575
31 DMD NM_004006.2(DMD): c.7200+9G> A single nucleotide variant Conflicting interpretations of pathogenicity rs748786108 X:31854826-31854826 X:31836709-31836709
32 DMD NM_004006.2(DMD): c.3951G> A (p.Glu1317=) single nucleotide variant Conflicting interpretations of pathogenicity rs199643655 X:32456478-32456478 X:32438361-32438361
33 DMD NM_004006.2(DMD): c.1809G> A (p.Leu603=) single nucleotide variant Conflicting interpretations of pathogenicity rs192176661 X:32591650-32591650 X:32573533-32573533
34 DMD NM_004006.2(DMD): c.530+7A> T single nucleotide variant Conflicting interpretations of pathogenicity rs72470523 X:32834578-32834578 X:32816461-32816461
35 DMD NM_004006.2(DMD): c.2912A> T (p.Asp971Val) single nucleotide variant Uncertain significance X:32490318-32490318 X:32472201-32472201
36 DMD NM_004006.2(DMD): c.10058A> C (p.His3353Pro) single nucleotide variant Uncertain significance X:31198515-31198515 X:31180398-31180398
37 DMD NM_004006.2(DMD): c.*1754_*1757TTCA[1] short repeat Uncertain significance rs751300992 X:31138275-31138278 X:31120158-31120161
38 DMD NM_004006.2(DMD): c.*479_*480CA[9] short repeat Uncertain significance rs763028610 X:31139544-31139547 X:31121427-31121430
39 DMD NM_004006.2(DMD): c.*461_*462CA[10] short repeat Uncertain significance rs386416845 X:31139560-31139563 X:31121443-31121446
40 DMD NM_004006.2(DMD): c.8888T> C (p.Val2963Ala) single nucleotide variant Uncertain significance rs1057515867 X:31496272-31496272 X:31478155-31478155
41 DMD NM_004006.2(DMD): c.5263C> T (p.Pro1755Ser) single nucleotide variant Uncertain significance rs1057515872 X:32380967-32380967 X:32362850-32362850
42 DMD NM_004006.2(DMD): c.5047A> C (p.Thr1683Pro) single nucleotide variant Uncertain significance rs1057515873 X:32382806-32382806 X:32364689-32364689
43 DMD NM_004006.2(DMD): c.3450G> T (p.Glu1150Asp) single nucleotide variant Uncertain significance rs142967431 X:32472932-32472932 X:32454815-32454815
44 DMD NM_004006.2(DMD): c.2146G> C (p.Val716Leu) single nucleotide variant Uncertain significance rs886043081 X:32563298-32563298 X:32545181-32545181
45 DMD NM_004006.2(DMD): c.3936G> C (p.Leu1312Phe) single nucleotide variant Uncertain significance rs377156960 X:32456493-32456493 X:32438376-32438376
46 DMD NM_004006.2(DMD): c.1687C> T (p.Arg563Cys) single nucleotide variant Uncertain significance rs145739725 X:32591879-32591879 X:32573762-32573762
47 DMD NM_004006.2(DMD): c.2210G> A (p.Arg737His) single nucleotide variant Uncertain significance rs773358704 X:32536207-32536207 X:32518090-32518090
48 SNTA1 NM_003098.2(SNTA1): c.620G> A (p.Arg207Gln) single nucleotide variant Uncertain significance rs771180054 20:32005606-32005606 20:33417800-33417800
49 DMD NM_004006.2(DMD): c.-75G> A single nucleotide variant Uncertain significance rs778938887 X:33229504-33229504 X:33211387-33211387
50 TAZ NM_000116.5(TAZ): c.535C> G (p.Pro179Ala) single nucleotide variant Uncertain significance rs397515744 X:153647956-153647956 X:154419617-154419617

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

74
# 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

GO Terms for Cardiomyopathy, Dilated, 3b

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

# Name GO ID Score Top Affiliating Genes
1 sarcolemma GO:0042383 9.43 SGCD SGCA DMD
2 sarcoglycan complex GO:0016012 9.16 SGCD SGCA
3 dystroglycan complex GO:0016011 8.96 SGCD SGCA
4 dystrophin-associated glycoprotein complex GO:0016010 8.8 SGCD SGCA DMD

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

# Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.37 TAZ SGCA
2 skeletal muscle tissue development GO:0007519 9.32 TAZ DMD
3 cardiac muscle contraction GO:0060048 9.26 TAZ DMD
4 skeletal muscle tissue regeneration GO:0043403 9.16 SGCA DMD
5 response to denervation involved in regulation of muscle adaptation GO:0014894 8.96 SGCA DMD
6 muscle organ development GO:0007517 8.8 SGCD SGCA DMD

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

# Name GO ID Score Top Affiliating Genes
1 mRNA binding GO:0003729 8.62 RBMXL2 RBMX

Sources for Cardiomyopathy, Dilated, 3b

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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