Familial isolated dilated cardiomyopathy

Familial isolated dilated cardiomyopathy is a rare, genetically heterogeneous cardiac disease characterized by dilatation leading to systolic and diastolic dysfunction of the left and/or right ventricles, causing heart failure or arrhythmia.



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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
        

Phenotype(s) retrieved from Orphanet

    Total: 8

HPO ID Term Frequency
HP:0001644 Dilated cardiomyopathy Very frequent (99-80%)
HP:0000407 Sensorineural hearing impairment Occasional (29-5%)
HP:0000982 Palmoplantar keratoderma Occasional (29-5%)
HP:0001874 Abnormality of neutrophils Occasional (29-5%)
HP:0003198 Myopathy Occasional (29-5%)
HP:0003236 Elevated serum creatine kinase Occasional (29-5%)
HP:0003457 EMG abnormality Occasional (29-5%)
HP:0100578 Lipoatrophy Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 43

Gene Symbol Gene Name Entrez Gene ID
TAF1A TATA-box binding protein associated factor, RNA polymerase I subunit A 9015
NEBL nebulette 10529
PPCS phosphopantothenoylcysteine synthetase 79717
ABCC9 ATP binding cassette subfamily C member 9 10060
ACTC1 actin alpha cardiac muscle 1 70
PSEN1 presenilin 1 5663
PSEN2 presenilin 2 5664
SCN5A sodium voltage-gated channel alpha subunit 5 6331
SDHA succinate dehydrogenase complex flavoprotein subunit A 6389
SGCD sarcoglycan delta 6444
TAZ tafazzin 6901
TCAP titin-cap 8557
TNNI3 troponin I3, cardiac type 7137
TNNT2 troponin T2, cardiac type 7139
TPM1 tropomyosin 1 7168
TTN titin 7273
CRYAB crystallin alpha B 1410
CSRP3 cysteine and glycine rich protein 3 8048
DES desmin 1674
DMD dystrophin 1756
DSG2 desmoglein 2 1829
FKTN fukutin 2218
LDB3 LIM domain binding 3 11155
DOLK dolichol kinase 22845
MYBPC3 myosin binding protein C, cardiac 4607
MYH6 myosin heavy chain 6 4624
MYH7 myosin heavy chain 7 4625
RAF1 Raf-1 proto-oncogene, serine/threonine kinase 5894
TMPO thymopoietin 7112
TNNC1 troponin C1, slow skeletal and cardiac type 7134
VCL vinculin 7414
ACTN2 actinin alpha 2 88
FHL2 four and a half LIM domains 2 2274
PLN phospholamban 5350
BAG3 BCL2 associated athanogene 3 9531
RBM20 RNA binding motif protein 20 282996
NEXN nexilin F-actin binding protein 91624
TXNRD2 thioredoxin reductase 2 10587
GATAD1 GATA zinc finger domain containing 1 57798
MYPN myopalladin 84665
LAMA4 laminin subunit alpha 4 3910
PRDM16 PR/SET domain 16 63976
ANKRD1 ankyrin repeat domain 1 27063