KEGG DISEASE: Cardiac conduction disease with or without dilated cardiomyopathy

KEGG

DISEASE: Cardiac conduction disease with or without dilated cardiomyopathy

Entry

H02125                      Disease

Name

Cardiac conduction disease with or without dilated cardiomyopathy

Description

Cardiac conduction disease with or without dilated cardiomyopathy (CCDD) is an autosomal dominant syndrome characterized by conduction system disease, atrial tachyarrhythmia and dilated cardiomyopathy. TNNI3K mutation in this disease has been reported. The TNNI3K gene encodes the protein TNNI3 interacting kinase which is located at the sarcomere Z disc. It may play a crucial role in cardiac physiology.

Category

Cardiovascular disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
11 Diseases of the circulatory system
  Cardiac arrhythmia
   BC63  Conduction disorders
    H02125  Cardiac conduction disease with or without dilated cardiomyopathy

Gene

TNNI3K [HSA:51086] [KO:K17535]

Other DBs

ICD-11:

MeSH:

OMIM:

Reference

Authors

Theis JL, Zimmermann MT, Larsen BT, Rybakova IN, Long PA, Evans JM, Middha S, de Andrade M, Moss RL, Wieben ED, Michels VV, Olson TM

Title

TNNI3K mutation in familial syndrome of conduction system disease, atrial tachyarrhythmia and dilated cardiomyopathy.

Journal

Hum Mol Genet 23:5793-804 (2014)
DOI:10.1093/hmg/ddu297

Reference

Authors

Fan LL, Huang H, Jin JY, Li JJ, Chen YQ, Zhao SP, Xiang R

Title

Whole exome sequencing identifies a novel mutation (c.333+2T>C) of TNNI3K in a Chinese family with dilated cardiomyopathy and cardiac conduction disease.

Journal

Gene 648:63-67 (2018)
DOI:10.1016/j.gene.2018.01.055

LinkDB

» Japanese version

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