Details of Disease

General Information of Disease (ID: DIS51KNV)

Disease Name Obsolete familial isolated restrictive cardiomyopathy
Synonyms familial or idiopathic restrictive cardiomyopathy
Definition
OBSOLETE. Familial restrictive cardiomyopathy is a genetic form of heart disease, in which the heart muscle is stiff and cannot fully relax after each contraction. Impaired muscle relaxation causes blood to back up in the atria and lungs, which reduces the amount of blood in the ventricles.
Disease Hierarchy
DIS01GPL: Grass pollen hypersensitivity
DIS51KNV: Obsolete familial isolated restrictive cardiomyopathy

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
TNNI3 TTNLDK6 Supportive Autosomal dominant [1]
TNNT2 TTWAS18 Supportive Autosomal dominant [2]
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This Disease Is Related to 5 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
FLNC OT3F8J6Y Supportive Autosomal dominant [3]
KIF20A OTXOQHE0 Supportive Autosomal dominant [4]
MYPN OTHTOFDU Supportive Autosomal dominant [5]
TNNI3 OT65E12V Supportive Autosomal dominant [1]
TNNT2 OT80NN7R Supportive Autosomal dominant [2]
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References

1 Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations. J Clin Invest. 2003 Jan;111(2):209-16. doi: 10.1172/JCI16336.
2 Infantile restrictive cardiomyopathy resulting from a mutation in the cardiac troponin T gene. Pediatrics. 2006 May;117(5):1830-3. doi: 10.1542/peds.2005-2301.
3 Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy. Hum Mutat. 2016 Mar;37(3):269-79. doi: 10.1002/humu.22942. Epub 2016 Jan 8.
4 Compound heterozygous loss-of-function mutations in KIF20A are associated with a novel lethal congenital cardiomyopathy in two siblings. PLoS Genet. 2018 Jan 22;14(1):e1007138. doi: 10.1371/journal.pgen.1007138. eCollection 2018 Jan.
5 Molecular basis for clinical heterogeneity in inherited cardiomyopathies due to myopalladin mutations. Hum Mol Genet. 2012 May 1;21(9):2039-53. doi: 10.1093/hmg/dds022. Epub 2012 Jan 27.