KEGG   DISEASE: Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities
Entry
H02683                      Disease                                
Name
Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities
Description
Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities (ARCME) is a novel autosomal recessive cardio-cutaneous syndrome, characterized by dilated cardiomyopathy associated with mild skin, teeth, and hair abnormalities. It has been reported that mutations in PPP1R13L cause this disease. PPP1R13L encodes iASPP protein that is expressed mainly in epithelial cells of the skin, testes, heart, and stomach.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 11 Diseases of the circulatory system
  Diseases of the myocardium or cardiac chambers
   BC43  Cardiomyopathy
    H02683  Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities
Gene
PPP1R13L [HSA:10848] [KO:K27356]
Other DBs
ICD-11: BC43.Y
OMIM: 620519
Reference
PMID:28069640
  Authors
Falik-Zaccai TC, Barsheshet Y, Mandel H, Segev M, Lorber A, Gelberg S, Kalfon L, Ben Haroush S, Shalata A, Gelernter-Yaniv L, Chaim S, Raviv Shay D, Khayat M, Werbner M, Levi I, Shoval Y, Tal G, Shalev S, Reuveni E, Avitan-Hersh E, Vlodavsky E, Appl-Sarid L, Goldsher D, Bergman R, Segal Z, Bitterman-Deutsch O, Avni O
  Title
Sequence variation in PPP1R13L results in a novel form of cardio-cutaneous syndrome.
  Journal
EMBO Mol Med 9:319-336 (2017)
DOI:10.15252/emmm.201606523
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