KEGG   DISEASE: Restrictive cardiomyopathy
Entry
H01219                      Disease                                
Name
Restrictive cardiomyopathy
Description
Restrictive cardiomyopathy (RCM) is an uncommon heart muscle disorder characterized by impaired ventricular filling and increased stiffness of the myocardium with diastolic dysfunction, resulting in atrial enlargement and elevated systemic and pulmonary venous pressure. To date, mutations have been identified in the cardiac genes.
Category
Cardiovascular disease
Brite
Human diseases [BR:br08402]
 Cardiovascular diseases
  Cardiac diseases
   H01219  Restrictive cardiomyopathy
Human diseases in ICD-11 classification [BR:br08403]
 11 Diseases of the circulatory system
  Diseases of the myocardium or cardiac chambers
   BC43  Cardiomyopathy
    H01219  Restrictive cardiomyopathy
Related
pathway
hsa04260  Cardiac muscle contraction
Gene
(RCM1) TNNI3 [HSA:7137] [KO:K12044]
(RCM3) TNNT2 [HSA:7139] [KO:K12045]
(RCM4) MYPN [HSA:84665] [KO:K22028]
(RCM5) FLNC [HSA:2318] [KO:K04437]
(RCM6) KIF20A [HSA:10112] [KO:K10402]
DES [HSA:1674] [KO:K07610]
ACTC1 [HSA:70] [KO:K12314]
Other DBs
ICD-11: BC43.2
ICD-10: I42
OMIM: 115210 612422 615248 617047 619433
Reference
PMID:20617149 (RCM1, RCM3)
  Authors
Parvatiyar MS, Pinto JR, Dweck D, Potter JD
  Title
Cardiac troponin mutations and restrictive cardiomyopathy.
  Journal
J Biomed Biotechnol 2010:350706 (2010)
DOI:10.1155/2010/350706
Reference
PMID:15201162 (RCM1, RCM3)
  Authors
Gomes AV, Potter JD
  Title
Molecular and cellular aspects of troponin cardiomyopathies.
  Journal
Ann N Y Acad Sci 1015:214-24 (2004)
DOI:10.1196/annals.1302.018
Reference
PMID:22286171 (RCM4)
  Authors
Purevjav E, Arimura T, Augustin S, Huby AC, Takagi K, Nunoda S, Kearney DL, Taylor MD, Terasaki F, Bos JM, Ommen SR, Shibata H, Takahashi M, Itoh-Satoh M, McKenna WJ, Murphy RT, Labeit S, Yamanaka Y, Machida N, Park JE, Alexander PM, Weintraub RG, Kitaura Y, Ackerman MJ, Kimura A, Towbin JA
  Title
Molecular basis for clinical heterogeneity in inherited cardiomyopathies due to myopalladin mutations.
  Journal
Hum Mol Genet 21:2039-53 (2012)
DOI:10.1093/hmg/dds022
Reference
PMID:26666891 (RCM5)
  Authors
Brodehl A, Ferrier RA, Hamilton SJ, Greenway SC, Brundler MA, Yu W, Gibson WT, McKinnon ML, McGillivray B, Alvarez N, Giuffre M, Schwartzentruber J, Gerull B
  Title
Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy.
  Journal
Hum Mutat 37:269-79 (2016)
DOI:10.1002/humu.22942
Reference
PMID:29357359 (RCM6)
  Authors
Louw JJ, Nunes Bastos R, Chen X, Verdood C, Corveleyn A, Jia Y, Breckpot J, Gewillig M, Peeters H, Santoro MM, Barr F, Devriendt K
  Title
Compound heterozygous loss-of-function mutations in KIF20A are associated with a novel lethal congenital cardiomyopathy in two siblings.
  Journal
PLoS Genet 14:e1007138 (2018)
DOI:10.1371/journal.pgen.1007138
Reference
PMID:18646564 (DES)
  Authors
Arimura T, Hayashi T, Kimura A
  Title
Molecular etiology of idiopathic cardiomyopathy.
  Journal
Acta Myol 26:153-8 (2007)
Reference
PMID:18467357 (ACTC)
  Authors
Kaski JP, Syrris P, Burch M, Tome-Esteban MT, Fenton M, Christiansen M, Andersen PS, Sebire N, Ashworth M, Deanfield JE, McKenna WJ, Elliott PM
  Title
Idiopathic restrictive cardiomyopathy in children is caused by mutations in cardiac sarcomere protein genes.
  Journal
Heart 94:1478-84 (2008)
DOI:10.1136/hrt.2007.134684
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