MCID: FML058
MIFTS: 59

Familial Dilated Cardiomyopathy malady

Genetic diseases, Rare diseases, Cardiovascular diseases categories

Aliases & Classifications for Familial Dilated Cardiomyopathy

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Familial Dilated Cardiomyopathy, Aliases & Descriptions:

Name: Familial Dilated Cardiomyopathy 41 21 60
Familial or Idiopathic Dilated Cardiomyopathy 41 47
Familial Isolated Dilated Cardiomyopathy 41 47
Hypokinetic Dilated Cardiomyopathy, Familial 41
Primary Familial Dilated Cardiomyopathy 21
Cardiomyopathy, Familial Idiopathic 60
 
Familial Idiopathic Cardiomyopathy 21
Cardiomyopathy, Familial Dilated 41
Dilated Cardiomyopathy, Familial 41
Congestive Cardiomyopathy 21
Cardiomyopathy, Dilated 60
Fdc 21


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Cardiovascular diseases


Characteristics (Orphanet epidemiological data):

47
familial or idiopathic dilated cardiomyopathy:
Inheritance: Autosomal dominant,Autosomal recessive,Mitochondrial inheritance,X-linked recessive; Prevalence: 1-9/100000 (Europe),1-5/10000 (Europe); Age of onset: All ages; Age of death: any age


External Ids:

Orphanet47 154
ICD10 via Orphanet26 I42.0

Summaries for Familial Dilated Cardiomyopathy

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Genetics Home Reference:21 Familial dilated cardiomyopathy is a genetic form of heart disease. It occurs when heart (cardiac) muscle becomes stretched out in at least one chamber of the heart, causing the open area of the chamber to become enlarged (dilated). As a result, the heart is unable to pump blood as efficiently as usual. Eventually, all four chambers of the heart become dilated as the cardiac muscle tries to increase the amount of blood being pumped through the heart. However, as the cardiac muscle becomes increasingly thin and weakened, it is less able to pump blood. Over time, this condition results in heart failure.

MalaCards based summary: Familial Dilated Cardiomyopathy, also known as familial or idiopathic dilated cardiomyopathy, is related to dilated cardiomyopathy and muscular dystrophy, and has symptoms including hypertrophic cardiomyopathy, sensorineural hearing impairment and palmoplantar keratoderma. An important gene associated with Familial Dilated Cardiomyopathy is RBM20 (RNA binding motif protein 20), and among its related pathways are A-beta Plaque Formation and APP Metabolism and Notch Pathway. The drugs inamrinone and inamrinone lactate and the compounds s-182 and mrk 560 have been mentioned in the context of this disorder. Affiliated tissues include heart, neutrophil and eye, and related mouse phenotypes are respiratory system and craniofacial.

Related Diseases for Familial Dilated Cardiomyopathy

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Diseases in the Dilated Cardiomyopathy family:

Cardiomyopathy, Dilated, 1cc Cardiomyopathy, Dilated, 1a
Cardiomyopathy, Dilated, 1v Cardiomyopathy, Dilated, 1d
Cardiomyopathy, Dilated, 1aa Cardiomyopathy, Dilated, 1h
Cardiomyopathy, Dilated, 1g Cardiomyopathy, Dilated, 1i
Cardiomyopathy, Dilated, 1nn Cardiomyopathy, Dilated, 1z
Cardiomyopathy, Dilated, 1e Cardiomyopathy, Dilated, 1gg
Cardiomyopathy, Dilated, 1l Cardiomyopathy, Dilated, 1k
Cardiomyopathy, Dilated, 1jj Cardiomyopathy, Dilated, 1p
Cardiomyopathy, Dilated, 1j Cardiomyopathy, Dilated, 2b
Cardiomyopathy, Dilated, 1q Cardiomyopathy, Dilated, 1x
Cardiomyopathy, Dilated, 1kk Cardiomyopathy, Dilated, 1w
Cardiomyopathy, Dilated, 1dd Cardiomyopathy, Dilated, 1hh
Cardiomyopathy, Dilated, 1m Cardiomyopathy, Dilated, 1ii
Cardiomyopathy, Dilated, 1o Cardiomyopathy, Dilated, 1t
Cardiomyopathy, Dilated, 1ee Cardiomyopathy, Dilated, 1u
Cardiomyopathy, Dilated, 1r Cardiomyopathy, Dilated, 1n
Cardiomyopathy, Dilated, 1bb Cardiomyopathy, Dilated, 2a
Cardiomyopathy, Dilated, 1ff Cardiomyopathy, Dilated, 3b
Cardiomyopathy, Dilated 1c Lmna-Related Dilated Cardiomyopathy
Cardiomyopathy Due to Anthracyclines familial dilated cardiomyopathy
Taz-Related Dilated Cardiomyopathy Tnnt2-Related Dilated Cardiomyopathy
Myh7-Related Dilated Cardiomyopathy Mybpc3-Related Dilated Cardiomyopathy
Tpm1-Related Dilated Cardiomyopathy Des-Related Dilated Cardiomyopathy
Sgcd-Related Dilated Cardiomyopathy Tnni3-Related Dilated Cardiomyopathy
Actc1-Related Dilated Cardiomyopathy Ldb3-Related Dilated Cardiomyopathy
Pln-Related Dilated Cardiomyopathy Scn5a-Related Dilated Cardiomyopathy
Dmd-Related Dilated Cardiomyopathy Ttn-Related Dilated Cardiomyopathy
Csrp3-Related Dilated Cardiomyopathy Tcap-Related Dilated Cardiomyopathy
Abcc9-Related Dilated Cardiomyopathy Vcl-Related Dilated Cardiomyopathy
Actn2-Related Dilated Cardiomyopathy Tnnc1-Related Dilated Cardiomyopathy
Ankrd1-Related Dilated Cardiomyopathy Psen2-Related Dilated Cardiomyopathy
Psen1-Related Dilated Cardiomyopathy Eya4-Related Dilated Cardiomyopathy
Tmpo-Related Dilated Cardiomyopathy Fktn-Related Dilated Cardiomyopathy
Dsg2-Related Dilated Cardiomyopathy Nexn-Related Dilated Cardiomyopathy
Rbm20-Related Dilated Cardiomyopathy Bag3-Related Dilated Cardiomyopathy
Myh6-Related Dilated Cardiomyopathy

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

(show top 50)    (show all 76)
idRelated DiseaseScoreTop Affiliating Genes
1dilated cardiomyopathy31.7VCL, CSRP3, DES, TCAP, LDB3, ACTC1
2muscular dystrophy30.7DES, FKTN, TCAP
3myopathy30.6TCAP, FKTN, DES, LDB3
4alzheimer disease type 110.5PSEN2, PSEN1
5infantile myofibromatosis10.5DES
6alzheimer disease-210.5PSEN2, PSEN1
7prion disease10.5PSEN2, PSEN1
8hemorrhage, intracerebral10.5PSEN1, PSEN2
9fasciitis10.4ACTC1
10myofibrillar myopathy10.4DES, LDB3
11becker muscular dystrophy10.4FKTN, VCL
12follicular dendritic cell sarcoma10.4
13limb-girdle muscular dystrophy10.4FKTN, TCAP
14epithelioid leiomyosarcoma10.3ACTC1, DES
15neuromuscular disease10.3TCAP, VCL, DES
16pseudosarcomatous fibromatosis10.3ACTC1, DES
17spindle cell carcinoma10.3ACTC1, DES
18spindle cell sarcoma10.3ACTC1, DES
19desmoid disease, hereditary10.3DES, ACTC1
20cutaneous fibrous histiocytoma10.3ACTC1, DES
21adenosarcoma10.3ACTC1, DES
22dermatofibrosarcoma protuberans10.3DES, ACTC1
23fibrous histiocytoma10.3DES, ACTC1
24endometrial stromal sarcoma10.3ACTC1, DES
25rhabdoid tumor10.3ACTC1, DES
26hemangiopericytoma10.3ACTC1, DES
27peripartum cardiomyopathy10.3
28angiomyolipoma10.3DES, ACTC1
29glomus tumor10.3DES, ACTC1
30fibroma10.3DES, ACTC1
31hypertrophic cardiomyopathy10.3PLN, CSRP3, ACTC1, TCAP
32embryonal rhabdomyosarcoma10.3ACTC1, DES
33malignant mixed mullerian tumor10.3DES, ACTC1
34duchenne muscular dystrophy10.3DES, VCL, FKTN, TCAP
35fibromatosis10.2ACTC1, DES
36leiomyosarcoma10.2ACTC1, DES, VCL
37gastrointestinal stromal tumor10.2SDHA, DES, ACTC1
38malouf syndrome10.2
39smooth muscle tumor10.2ACTC1, DES
40cardiomyopathy, dilated, 1a10.1
41muscular dystrophy, congenital, 1b10.1
42campomelic dysplasia10.1
43celiac disease10.1
44cataract10.1
45conduct disorder10.1
46atrioventricular block10.1
47conjunctivitis10.1
48hypogonadism10.1
49thyroiditis10.1
50cardiomyopathy cataract hip spine disease10.1

Graphical network of the top 20 diseases related to Familial Dilated Cardiomyopathy:



Diseases related to familial dilated cardiomyopathy

Symptoms for Familial Dilated Cardiomyopathy

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Symptoms:

 47 (show all 13)
  • cardiomyopathy/hypertrophic/dilated
  • autosomal dominant inheritance
  • sensorineural deafness/hearing loss
  • palmoplantar hyperkeratosis/keratoderma
  • lipoatrophy
  • myopathy
  • abnormal muscle biopsy/muscle enzymes/cpk/ldh/aldolase/creatin phosphokinase
  • abnormal emg/electromyogram/electropmyography
  • polynuclear cells/neutrophils anomalies/neutropenia
  • autosomal recessive inheritance
  • x-linked dominant inheritance
  • x-linked recessive inheritance
  • stillbirth/neonatal death

HPO human phenotypes related to Familial Dilated Cardiomyopathy:

(show all 7)
id Description Frequency HPO Source Accession
1 hypertrophic cardiomyopathy hallmark (90%) HP:0001639
2 sensorineural hearing impairment occasional (7.5%) HP:0000407
3 palmoplantar keratoderma occasional (7.5%) HP:0000982
4 abnormality of neutrophils occasional (7.5%) HP:0001874
5 myopathy occasional (7.5%) HP:0003198
6 emg abnormality occasional (7.5%) HP:0003457
7 lipoatrophy occasional (7.5%) HP:0100578

Drugs & Therapeutics for Familial Dilated Cardiomyopathy

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Drug clinical trials:

Search ClinicalTrials for Familial Dilated Cardiomyopathy

Search NIH Clinical Center for Familial Dilated Cardiomyopathy

Inferred drug relations via UMLS60/NDF-RT39:

Genetic Tests for Familial Dilated Cardiomyopathy

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Anatomical Context for Familial Dilated Cardiomyopathy

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MalaCards organs/tissues related to Familial Dilated Cardiomyopathy:

31
Heart, Neutrophil, Eye, Thyroid

Animal Models for Familial Dilated Cardiomyopathy or affiliated genes

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MGI Mouse Phenotypes related to Familial Dilated Cardiomyopathy:

35 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053889.7PRDM16, LDB3, PSEN1, PSEN2, CSRP3, RAF1
2MP:00053829.4VCL, PRDM16, PSEN1, PSEN2, RAF1
3MP:00053869.3DES, LAMA4, FKTN, TCAP, LDB3, PSEN1
4MP:00028739.2RAF1, FHL2, ACTC1, PSEN2, PSEN1, TXNRD2
5MP:00053789.1LAMA4, VCL, FKTN, PRDM16, LDB3, PSEN1
6MP:00036319.0TXNRD2, LAMA4, VCL, FKTN, PRDM16, PSEN1
7MP:00053848.8TXNRD2, DSG2, VCL, FKTN, TCAP, PSEN1
8MP:00053768.7DES, TXNRD2, LAMA4, FKTN, TCAP, LDB3
9MP:00053698.6FKTN, VCL, LAMA4, TXNRD2, DES, TCAP
10MP:00053858.3RAF1, DES, TXNRD2, LAMA4, VCL, TCAP
11MP:00107688.2FKTN, VCL, DSG2, LAMA4, TXNRD2, DES

Publications for Familial Dilated Cardiomyopathy

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Articles related to Familial Dilated Cardiomyopathy:

(show top 50)    (show all 118)
idTitleAuthorsYear
1
Novel familial dilated cardiomyopathy mutation in MYL2 affects the structure and function of myosin regulatory light chain. (25825243)
2015
2
TBX5 loss-of-function mutation contributes to familial dilated cardiomyopathy. (25725155)
2015
3
A novel GATA4 loss-of-function mutation responsible for familial dilated cardiomyopathy. (24366163)
2014
4
Whole exome sequencing identifies a troponin T mutation hot spot in familial dilated cardiomyopathy. (24205113)
2013
5
Return of genetic results in the familial dilated cardiomyopathy research project. (22886719)
2013
6
GATA4 loss-of-function mutation underlies familial dilated cardiomyopathy. (24041700)
2013
7
Patient-specific induced pluripotent stem cells as a model for familial dilated cardiomyopathy. (22517884)
2012
8
Familial dilated cardiomyopathy. (21574539)
2011
9
Familial dilated cardiomyopathy associated with congenital defects in the setting of a novel VCL mutation (Lys815Arg) in conjunction with a known MYPBC3 variant. (24062880)
2011
10
Update 2011: clinical and genetic issues in familial dilated cardiomyopathy. (21492761)
2011
11
A novel LMNA mutation (R189W) in familial dilated cardiomyopathy: evidence for a 'hot spot' region at exon 3: a case report. (20307303)
2010
12
Familial dilated cardiomyopathy--a case report from western Nepal. (21222413)
2010
13
Familial dilated cardiomyopathy caused by an alpha-tropomyosin mutation: the distinctive natural history of sarcomeric dilated cardiomyopathy. (20117437)
2010
14
Familial dilated cardiomyopathy: another risk factor for anthracycline-induced cardiotoxicity? (20952769)
2010
15
Familial dilated cardiomyopathy secondary to dystrophin splice site mutation. (20206892)
2010
16
Investigation of a transgenic mouse model of familial dilated cardiomyopathy. (20600154)
2010
17
Identification of mutational hot spots in LMNA encoding lamin A/C in patients with familial dilated cardiomyopathy. (18795223)
2009
18
Survival of patients with familial dilated cardiomyopathy on optimal heart failure therapy. (19480309)
2009
19
Cardiac magnetic resonance imaging of myocardial contrast uptake and blood flow in patients affected with idiopathic or familial dilated cardiomyopathy. (18660445)
2008
20
A missense mutation in the CHRM2 gene is associated with familial dilated cardiomyopathy. (18451336)
2008
21
Portuguese study of familial dilated cardiomyopathy: the FATIMA study. (19044174)
2008
22
Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy. (18585512)
2008
23
Anti-heart autoantibodies in familial dilated cardiomyopathy. (18781472)
2008
24
Clinical characteristics of 304 kindreds evaluated for familial dilated cardiomyopathy. (16911908)
2006
25
A novel LMNA gene mutation E82K associated with familial dilated cardiomyopathy]. (16266469)
2005
26
Familial dilated cardiomyopathy and isolated left ventricular noncompaction associated with lamin A/C gene mutations. (15219508)
2004
27
Familial dilated cardiomyopathy: evidence for clinical and immunogenetic heterogeneity. (12761452)
2003
28
Cardiology patient page. Familial dilated cardiomyopathy. (14581388)
2003
29
New phenotype of familial dilated cardiomyopathy and conduction disorders. (12595850)
2003
30
Familial dilated cardiomyopathy. (12621922)
2002
31
Genetic diagnosis of familial dilated cardiomyopathy]. (12025381)
2002
32
Periodic rescreening is indicated for family members at risk of developing familial dilated cardiomyopathy. (11985914)
2002
33
Novel cardiac troponin T mutation as a cause of familial dilated cardiomyopathy. (11684629)
2001
34
Low proportion of familial dilated cardiomyopathy in an arab population with a high prevalence of consanguineous marriages. (11808897)
2001
35
Current perspective new insights into the molecular basis of familial dilated cardiomyopathy. (11374497)
2001
36
Familial dilated cardiomyopathy: from clinical presentation to molecular genetics. (11052854)
2000
37
Familial dilated cardiomyopathy: echocardiographic diagnostic criteria for classification of family members as affected. (10496193)
1999
38
Familial dilated cardiomyopathy. (10534480)
1999
39
Guidelines for the study of familial dilated cardiomyopathies. Collaborative Research Group of the European Human and Capital Mobility Project on Familial Dilated Cardiomyopathy. (10099905)
1999
40
Familial dilated cardiomyopathy. (9768747)
1998
41
Linkage of familial dilated cardiomyopathy with conduction defect and muscular dystrophy to chromosome 6q23. (9382102)
1997
42
Familial dilated cardiomyopathy in the United Kingdom. (7786655)
1995
43
Frequency of familial dilated cardiomyopathy. (8682093)
1995
44
Familial dilated cardiomyopathy: a worse prognosis compared with sporadic forms. (7546997)
1995
45
Linkage of familial dilated cardiomyopathy to chromosome 9. Heart Muscle Disease Study Group. (7573045)
1995
46
Familial dilated cardiomyopathy. (7873323)
1994
47
Familial dilated cardiomyopathy. (1584274)
1992
48
Familial dilated cardiomyopathy--study in two families. (3192264)
1988
49
Familial dilated cardiomyopathy and human leucocyte antigen. A report of two family cases. (3444043)
1987
50
A familial dilated cardiomyopathy associated with cataracts and hip-spine disease. (3965265)
1985

Variations for Familial Dilated Cardiomyopathy

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Clinvar genetic disease variations for Familial Dilated Cardiomyopathy:

6 (show all 95)
id Gene Variation Type Significance SNP ID Assembly Location
1DMDDMD, EX1DELdeletionPathogenic
2DMDDMD, IVS1, G-T, +1single nucleotide variantPathogenic
3DMDNM_004006.2(DMD): c.835A> G (p.Thr279Ala)single nucleotide variantPathogenicrs128627255GRCh37Chr X, 32716112: 32716112
4DMDDMD, ALU INSinsertionPathogenic
5DMDDMD, 16-BP DELdeletionPathogenic
6VCLVCL, 3-BP DEL, 2862GTTdeletionPathogenic
7TNNT2NM_000364.3(TNNT2): c.266T> A (p.Ile89Asn)single nucleotide variantPathogenicrs121964855GRCh37Chr 1, 201334766: 201334766
8TNNT2NM_000364.3(TNNT2): c.649_651delAAG (p.Lys217del)deletionPathogenicrs121964859GRCh37Chr 1, 201331100: 201331102
9TNNT2NM_000364.3(TNNT2): c.451C> T (p.Arg151Trp)single nucleotide variantPathogenicrs74315379GRCh37Chr 1, 201333464: 201333464
10TNNT2NM_000364.3(TNNT2): c.421C> T (p.Arg141Trp)single nucleotide variantLikely pathogenic, Pathogenicrs74315380GRCh37Chr 1, 201333494: 201333494
11TNNT2NM_000364.3(TNNT2): c.635G> T (p.Arg212Leu)single nucleotide variantPathogenicrs121964860GRCh37Chr 1, 201331116: 201331116
12TNNT2NM_000364.3(TNNT2): c.829G> A (p.Asp277Asn)single nucleotide variantPathogenicrs121964861GRCh37Chr 1, 201328764: 201328764
13TNNI3TNNI3, A2Vsingle nucleotide variantPathogenic
14TNNI3NM_000363.4(TNNI3): c.106A> C (p.Lys36Gln)single nucleotide variantPathogenicrs267607130GRCh37Chr 19, 55668420: 55668420
15TNNI3NM_000363.4(TNNI3): c.555C> G (p.Asn185Lys)single nucleotide variantPathogenicrs267607129GRCh37Chr 19, 55663280: 55663280
16TNNC1NM_003280.2(TNNC1): c.476G> A (p.Gly159Asp)single nucleotide variantPathogenicrs104893823GRCh37Chr 3, 52485301: 52485301
17TPM1NM_001018005.1(TPM1): c.160G> A (p.Glu54Lys)single nucleotide variantPathogenicrs104894505GRCh37Chr 15, 63336271: 63336271
18TPM1NM_001018005.1(TPM1): c.118G> A (p.Glu40Lys)single nucleotide variantPathogenicrs104894501GRCh37Chr 15, 63336229: 63336229
19TTNTTN, 2-BP INS, 43628ATinsertionPathogenic
20TTNNM_001256850.1(TTN): c.2926T> C (p.Trp976Arg)single nucleotide variantPathogenicrs267607155GRCh37Chr 2, 179647707: 179647707
21TTNNM_001256850.1(TTN): c.2228C> T (p.Ala743Val)single nucleotide variantPathogenicrs267607157GRCh37Chr 2, 179650717: 179650717
22TTNNM_001256850.1(TTN): c.160G> A (p.Val54Met)single nucleotide variantPathogenicrs139517732GRCh37Chr 2, 179667000: 179667000
23TTNNM_001256850.1(TTN): c.12157C> T (p.Gln4053Ter)single nucleotide variantPathogenicrs267607158GRCh37Chr 2, 179604852: 179604852
24TTNNM_003319.4(TTN): c.13250G> A (p.Ser4417Asn)single nucleotide variantPathogenicrs147879266GRCh37Chr 2, 179602841: 179602841
25TMPONM_003276.2(TMPO): c.2068C> T (p.Arg690Cys)single nucleotide variantPathogenicrs17028450GRCh37Chr 12, 98928103: 98928103
26NM_002667.3(PLN): c.25C> T (p.Arg9Cys)single nucleotide variantPathogenicrs111033559GRCh37Chr 6, 118880109: 118880109
27PLNPLN, 3-BP DEL, 39AGAdeletionPathogenic
28MYH7NM_000257.3(MYH7): c.1594T> C (p.Ser532Pro)single nucleotide variantPathogenicrs121913642GRCh37Chr 14, 23897088: 23897088
29MYH7NM_000257.3(MYH7): c.2292C> G (p.Phe764Leu)single nucleotide variantPathogenicrs121913643GRCh37Chr 14, 23894622: 23894622
30MYH7NM_000257.3(MYH7): c.667G> A (p.Ala223Thr)single nucleotide variantPathogenicrs121913645GRCh37Chr 14, 23900859: 23900859
31MYH7NM_000257.3(MYH7): c.1925C> T (p.Ser642Leu)single nucleotide variantPathogenicrs121913646GRCh37Chr 14, 23896480: 23896480
32MYH6NM_002471.3(MYH6): c.2489C> T (p.Pro830Leu)single nucleotide variantPathogenicrs267606906GRCh37Chr 14, 23863473: 23863473
33NM_002471.3(MYH6): c.3010G> T (p.Ala1004Ser)single nucleotide variantPathogenicrs143978652GRCh37Chr 14, 23862646: 23862646
34MYH6NM_002471.3(MYH6): c.4369G> A (p.Glu1457Lys)single nucleotide variantPathogenicrs267606905GRCh37Chr 14, 23857123: 23857123
35MYH7NM_000257.3(MYH7): c.5378_5380delTGC (p.Leu1793del)deletionPathogenicGRCh37Chr 14, 23884383: 23884385
36DESNM_001927.3(DES): c.1353C> G (p.Ile451Met)single nucleotide variantPathogenicrs121913002GRCh37Chr 2, 220290449: 220290449
37PSEN1NM_000021.3(PSEN1): c.998A> G (p.Asp333Gly)single nucleotide variantPathogenicrs121917809GRCh37Chr 14, 73678519: 73678519
38ACTN2NM_001103.3(ACTN2): c.26A> G (p.Gln9Arg)single nucleotide variantPathogenicrs121434525GRCh37Chr 1, 236849999: 236849999
39NM_005159.4(ACTC1): c.941G> A (p.Arg314His)single nucleotide variantPathogenicrs121912673GRCh37Chr 15, 35083364: 35083364
40NM_005159.4(ACTC1): c.1088A> G (p.Glu363Gly)single nucleotide variantPathogenicrs121912674GRCh37Chr 15, 35082659: 35082659
41RBM20NM_001134363.2(RBM20): c.1913C> T (p.Pro638Leu)single nucleotide variantPathogenicrs267607003GRCh37Chr 10, 112572068: 112572068
42RBM20NM_001134363.2(RBM20): c.1901G> A (p.Arg634Gln)single nucleotide variantPathogenicrs267607001GRCh37Chr 10, 112572056: 112572056
43RBM20NM_001134363.2(RBM20): c.1906C> A (p.Arg636Ser)single nucleotide variantLikely pathogenic, Pathogenicrs267607002GRCh37Chr 10, 112572061: 112572061
44RBM20NM_001134363.2(RBM20): c.1907G> A (p.Arg636His)single nucleotide variantLikely pathogenic, Pathogenicrs267607004GRCh37Chr 10, 112572062: 112572062
45RBM20NM_001134363.2(RBM20): c.1909A> G (p.Ser637Gly)single nucleotide variantPathogenicrs267607005GRCh37Chr 10, 112572064: 112572064
46PLNPLN, -36A-Csingle nucleotide variantPathogenic
47BAG3BAG3, EX4DELdeletionPathogenic
48BAG3NM_004281.3(BAG3): c.211C> T (p.Arg71Trp)single nucleotide variantPathogenicrs387906874GRCh37Chr 10, 121429393: 121429393
49BAG3NM_004281.3(BAG3): c.367C> T (p.Arg123Ter)single nucleotide variantLikely pathogenic, Pathogenicrs387906875GRCh37Chr 10, 121429549: 121429549
50BAG3BAG3, 1-BP DEL, 652CdeletionPathogenic
51BAG3NM_004281.3(BAG3): c.1430G> A (p.Arg477His)single nucleotide variantPathogenicrs387906876GRCh37Chr 10, 121436496: 121436496
52GATAD1NM_021167.4(GATAD1): c.304T> C (p.Ser102Pro)single nucleotide variantPathogenicrs387907188GRCh37Chr 7, 92078120: 92078120
53MYPNNM_032578.3(MYPN): c.3263G> A (p.Arg1088His)single nucleotide variantPathogenicrs71584501GRCh37Chr 10, 69957213: 69957213
54MYPNNM_032578.3(MYPN): c.3335C> T (p.Pro1112Leu)single nucleotide variantPathogenicrs71534278GRCh37Chr 10, 69959174: 69959174
55MYPNNM_032578.3(MYPN): c.3583G> A (p.Val1195Met)single nucleotide variantPathogenicrs71534280GRCh37Chr 10, 69961675: 69961675
56MYPNNM_032578.3(MYPN): c.59A> G (p.Tyr20Cys)single nucleotide variantPathogenicrs140148105GRCh37Chr 10, 69881254: 69881254
57FKTNFKTN, 3-KB INS, SVA RETROTRANSPOSON INSinsertionPathogenic
58FKTNNM_001079802.1(FKTN): c.1073A> C (p.Gln358Pro)single nucleotide variantPathogenicrs119463993GRCh37Chr 9, 108382243: 108382243
59FKTNNM_001079802.1(FKTN): c.536G> C (p.Arg179Thr)single nucleotide variantPathogenicrs119463994GRCh37Chr 9, 108366662: 108366662
60NEXNNEXN, 3-BP DEL, 1948GGAdeletionPathogenic
61NEXNNM_144573.3(NEXN): c.1955A> G (p.Tyr652Cys)single nucleotide variantPathogenicrs137853197GRCh37Chr 1, 78408441: 78408441
62NEXNNM_144573.3(NEXN): c.1831C> A (p.Pro611Thr)single nucleotide variantPathogenicrs137853198GRCh37Chr 1, 78408317: 78408317
63LDB3NM_007078.2(LDB3): c.1051A> G (p.Thr351Ala)single nucleotide variantLikely pathogenicrs138251566GRCh37Chr 10, 88466442: 88466442
64SCN5ANM_000335.4(SCN5A): c.5504T> C (p.Ile1835Thr)single nucleotide variantPathogenicrs45563942GRCh37Chr 3, 38592356: 38592356
65BAG3NM_004281.3(BAG3): c.652C> T (p.Arg218Trp)single nucleotide variantPathogenicrs397514506GRCh37Chr 10, 121431911: 121431911
66BAG3NM_004281.3(BAG3): c.1385T> C (p.Leu462Pro)single nucleotide variantPathogenicrs397514507GRCh37Chr 10, 121436451: 121436451
67CRYABNM_001885.2(CRYAB): c.470G> A (p.Arg157His)single nucleotide variantPathogenicrs141638421GRCh37Chr 11, 111779546: 111779546
68CRYABNM_001885.2(CRYAB): c.460G> A (p.Gly154Ser)single nucleotide variantPathogenicrs150516929GRCh37Chr 11, 111779556: 111779556
69MYBPC3NM_000256.3(MYBPC3): c.1468G> A (p.Gly490Arg)single nucleotide variantPathogenicrs200625851GRCh37Chr 11, 47364285: 47364285
70MYBPC3NM_000256.3(MYBPC3): c.2497G> A (p.Ala833Thr)single nucleotide variantPathogenicrs199865688GRCh37Chr 11, 47359047: 47359047
71MYH7NM_000257.3(MYH7): c.5740G> A (p.Glu1914Lys)single nucleotide variantLikely pathogenic, Pathogenicrs397516254GRCh37Chr 14, 23883018: 23883018
72LDB3NM_007078.2(LDB3): c.1035C> G (p.Ile345Met)single nucleotide variantPathogenicrs121908336GRCh37Chr 10, 88466426: 88466426
73LDB3NM_001080116.1(LDB3): c.383A> T (p.Lys128Met)single nucleotide variantPathogenicrs121908339GRCh37Chr 10, 88446864: 88446864
74LDB3NM_007078.2(LDB3): c.2017G> A (p.Asp673Asn)single nucleotide variantPathogenicrs45514002GRCh37Chr 10, 88485932: 88485932
75LAMA4NM_002290.4(LAMA4): c.3217C> T (p.Arg1073Ter)single nucleotide variantPathogenicrs372615994GRCh37Chr 6, 112460366: 112460366
76LAMA4NM_002290.4(LAMA4): c.2828C> T (p.Pro943Leu)single nucleotide variantPathogenicrs387907365GRCh37Chr 6, 112462089: 112462089
77MYPNNM_032578.3(MYPN): c.2882C> T (p.Pro961Leu)single nucleotide variantPathogenicGRCh37Chr 10, 69948840: 69948840
78TCAPNM_003673.3(TCAP): c.260G> A (p.Arg87Gln)single nucleotide variantPathogenicrs121434298GRCh37Chr 17, 37822118: 37822118
79PRDM16NM_022114.3(PRDM16): c.2104A> T (p.Lys702Ter)single nucleotide variantPathogenicrs397514742GRCh37Chr 1, 3328865: 3328865
80PRDM16PRDM16, 1-BP DUP, 1573CduplicationPathogenic
81PRDM16NM_022114.3(PRDM16): c.2447A> G (p.Asn816Ser)single nucleotide variantPathogenicrs397514743GRCh37Chr 1, 3329208: 3329208
82MYBPC3NM_000256.3(MYBPC3): c.3791G> T (p.Cys1264Phe)single nucleotide variantPathogenicrs397514751GRCh37Chr 11, 47353646: 47353646
83MYBPC3NM_000256.3(MYBPC3): c.2618C> T (p.Pro873Leu)single nucleotide variantPathogenicrs371401403GRCh37Chr 11, 47357547: 47357547
84MYBPC3MYBPC3, 2-BP DEL, 2919CTdeletionPathogenic
85ABCC9ABCC9, 3-BP DEL, 4-BP INS, EX38indelPathogenic
86ABCC9NM_020297.3(ABCC9): c.4537G> A (p.Ala1513Thr)single nucleotide variantPathogenicrs121909304GRCh37Chr 12, 21954091: 21954091
87SGCDSGCD, 3-BP DEL, 710AGA/711GAAdeletionPathogenic
88SGCDNM_000337.5(SGCD): c.451T> G (p.Ser151Ala)single nucleotide variantPathogenicrs121909298GRCh37Chr 5, 156022010: 156022010
89MYBPC3NM_000256.3(MYBPC3): c.2843A> C (p.Asn948Thr)single nucleotide variantPathogenicrs121909376GRCh37Chr 11, 47356655: 47356655
90SDHANM_004168.3(SDHA): c.1664G> A (p.Gly555Glu)single nucleotide variantPathogenicrs137852768GRCh37Chr 5, 251453: 251453
91CSRP3NM_003476.4(CSRP3): c.10T> C (p.Trp4Arg)single nucleotide variantPathogenicrs45550635GRCh37Chr 11, 19213986: 19213986
92CSRP3NM_003476.4(CSRP3): c.206A> G (p.Lys69Arg)single nucleotide variantPathogenicrs137852764GRCh37Chr 11, 19209758: 19209758
93PSEN2NM_000447.2(PSEN2): c.389C> T (p.Ser130Leu)single nucleotide variantPathogenicrs63750197GRCh37Chr 1, 227073271: 227073271
94SCN5ANM_000335.4(SCN5A): c.2549_2550dupTG (p.Phe851Cysfs)duplicationPathogenicrs397514450GRCh37Chr 3, 38627419: 38627420
95SCN5ANM_000335.4(SCN5A): c.4780G> C (p.Asp1594His)single nucleotide variantPathogenicrs137854607GRCh37Chr 3, 38595800: 38595800

Expression for genes affiliated with Familial Dilated Cardiomyopathy

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Search GEO for disease gene expression data for Familial Dilated Cardiomyopathy.

Pathways for genes affiliated with Familial Dilated Cardiomyopathy

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Pathways related to Familial Dilated Cardiomyopathy according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.2PSEN2, PSEN1
210.2PSEN1, PSEN2
3
Show member pathways
Alzheimers Disease36
10.1SDHA, PSEN1, PSEN2
4
Show member pathways
Cytoskeleton remodeling Fibronectin binding integrins in cell motility58
Cytoskeleton remodeling Integrin outside in signaling58
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases58
Cell adhesion Tight junctions58
Development MAG dependent inhibition of neurite outgrowth58
9.8RAF1, ACTC1, VCL
5
Show member pathways
9.7ACTC1, TCAP, VCL, DES
6
Show member pathways
Arrhythmogenic right ventricular cardiomyopathy36
9.6PLN, ACTC1, DSG2, DES
79.6ACTC1, VCL, DSG2, DES
8
Show member pathways
9.5DES, LAMA4, VCL, PSEN1, PSEN2, RAF1

Compounds for genes affiliated with Familial Dilated Cardiomyopathy

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Compounds related to Familial Dilated Cardiomyopathy according to GeneCards Suite gene sharing:

(show all 35)
idCompoundScoreTop Affiliating Genes
1s-1824310.6PSEN1, PSEN2
2mrk 5605910.6PSEN1, PSEN2
3jlk 65910.6PSEN1, PSEN2
4begacestat5910.6PSEN1, PSEN2
5l-685,4585910.6PSEN1, PSEN2
6dapt5910.6PSEN1, PSEN2
7ryanodine43 28 5912.4PSEN2, PSEN1, DES
8orcein4310.4DES, ACTC1
9s 1004310.4ACTC1, DES
10lactacystin4310.3RAF1, PSEN2, PSEN1
11reticulin4310.3ACTC1, DES
12mucicarmine4310.3ACTC1, DES
13choline43 24 1212.2RAF1, PSEN2, PSEN1
14biotin43 24 1212.2ACTC1, PSEN2, PSEN1, DES
1512-o-tetradecanoylphorbol 13-acetate4310.1DES, VCL, PSEN1, PSEN2, RAF1
16valine4310.1TXNRD2, PSEN1, PSEN2, RAF1
17methionine4310.0PSEN1, VCL, TXNRD2, DES
18imatinib43 49 1212.0DES, ACTC1, RAF1
19proline439.9DES, TXNRD2, VCL, PSEN1
20cycloheximide439.9RAF1, PSEN2, PSEN1, VCL
21nitric oxide43 24 1211.8PSEN2, PSEN1, VCL, TXNRD2, DES
22vegf439.8DES, VCL, PSEN2, ACTC1, RAF1
23phalloidin439.8VCL, DES
24aspartate439.8TXNRD2, PSEN1, PSEN2, RAF1
25testosterone43 59 24 1212.7DES, VCL, ACTC1, FHL2, RAF1
26h2o2439.7DES, TXNRD2, VCL, PSEN1, PSEN2, RAF1
27threonine439.7DES, TXNRD2, VCL, PSEN1, RAF1
28oxygen43 2410.7DES, SDHA, TXNRD2, PSEN1, PSEN2, ACTC1
29retinoic acid43 2410.6DES, TXNRD2, PSEN1, PSEN2, ACTC1, RAF1
30glucose439.5DES, VCL, PSEN1, PSEN2, ACTC1
31estrogen439.5RAF1, ACTC1, PSEN2, TXNRD2, DES
32cysteine439.5DES, TXNRD2, VCL, PSEN1, RAF1
33serine439.4DES, TXNRD2, VCL, PSEN1, PSEN2, RAF1
34calcium43 49 24 1212.2DES, TXNRD2, DSG2, VCL, MYPN, PSEN1
35tyrosine439.0RAF1, DES, TXNRD2, DSG2, VCL, PSEN1

GO Terms for genes affiliated with Familial Dilated Cardiomyopathy

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Cellular components related to Familial Dilated Cardiomyopathy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1ciliary rootletGO:003525310.2PSEN2, PSEN1
2neuromuscular junctionGO:003159410.1DES, PSEN1, PSEN2
3I bandGO:003167410.1ACTC1, TCAP, MYPN
4fascia adherensGO:000591610.0VCL, DES
5perinuclear region of cytoplasmGO:004847110.0PLN, PSEN2, PSEN1, LDB3
6pseudopodiumGO:00311439.8LDB3, RAF1
7Z discGO:00300189.5CSRP3, DES, MYPN, TCAP, LDB3, PSEN1

Biological processes related to Familial Dilated Cardiomyopathy according to GeneCards Suite gene sharing:

(show all 31)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of coagulationGO:005082010.6PSEN2, PSEN1
2detection of muscle stretchGO:003599510.6TCAP, CSRP3
3myeloid leukocyte differentiationGO:000257310.6PSEN1, PSEN2
4cardiac muscle hypertrophyGO:000330010.6TCAP, CSRP3
5endoplasmic reticulum calcium ion homeostasisGO:003246910.6PSEN2, PSEN1
6amyloid precursor protein catabolic processGO:004298710.6PSEN2, PSEN1
7beta-amyloid metabolic processGO:005043510.6PSEN2, PSEN1
8anagenGO:004264010.5PSEN1, PSEN2
9cardiac muscle tissue developmentGO:004873810.5PLN, CSRP3
10dorsal/ventral neural tube patterningGO:002190410.5PSEN2, PSEN1
11brain morphogenesisGO:004885410.5PSEN1, PSEN2
12hematopoietic progenitor cell differentiationGO:000224410.5PSEN1, PSEN2
13calcium ion transportGO:000681610.5PSEN1, PSEN2, PLN
14somitogenesisGO:000175610.5PSEN2, PSEN1, TCAP
15cell fate specificationGO:000170810.5PSEN1, PSEN2
16skeletal muscle thin filament assemblyGO:003024010.5TCAP, ACTC1
17sarcomere organizationGO:004521410.5MYPN, TCAP, LDB3
18regulation of the force of heart contractionGO:000202610.5CSRP3, PLN
19negative regulation of protein complex assemblyGO:003133310.4RAF1, PSEN2
20cardiac muscle tissue morphogenesisGO:005500810.4TCAP, ACTC1
21T cell activation involved in immune responseGO:000228610.4PSEN1, PSEN2
22cardiac myofibril assemblyGO:005500310.4CSRP3, ACTC1, TCAP
23membrane protein ectodomain proteolysisGO:000650910.4PSEN2, PSEN1
24negative regulation of extrinsic apoptotic signaling pathway via death domain receptorsGO:0190204210.3PSEN2, RAF1
25Notch receptor processingGO:000722010.3PSEN2, PSEN1
26muscle filament slidingGO:003004910.3ACTC1, TCAP, DES
27cardiac muscle contractionGO:006004810.3CSRP3, ACTC1, PSEN2, TCAP
28regulation of heart contractionGO:000801610.2PLN, DES
29protein processingGO:001648510.1PSEN2, PSEN1
30brown fat cell differentiationGO:00508739.9PRDM16, LAMA4
31negative regulation of apoptotic processGO:00430669.7PSEN1, ACTC1, FHL2, RAF1

Molecular functions related to Familial Dilated Cardiomyopathy according to GeneCards Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1muscle alpha-actinin bindingGO:005137110.3LDB3, MYPN
2aspartic-type endopeptidase activityGO:000419010.2PSEN2, PSEN1
3endopeptidase activityGO:000417510.2PSEN2, PSEN1
4cytoskeletal protein bindingGO:000809210.1DES, MYPN, LDB3
5cadherin bindingGO:00452969.9PSEN1, VCL
6identical protein bindingGO:00428029.6DES, PLN, FHL2, RAF1
7protein bindingGO:00055158.3RAF1, DES, SDHA, TXNRD2, VCL, MYPN

Products for genes affiliated with Familial Dilated Cardiomyopathy

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  • Antibodies
  • Proteins
  • Lysates
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Sources for Familial Dilated Cardiomyopathy

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet