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24 Possible Causes for Caused by Mutation in the Desmoplakin Gene

  • Cardiomyopathy

    Mutations in the genes encoding the desmosomal proteins plakoglobin and desmoplakin have been identified as the cause of Naxos disease.[ncbi.nlm.nih.gov] In the Naxos disease variety described in families from Ecuador and Israel (Arab families), two different mutations of the desmoplakin gene ( Dsp7901del1G and DspG2375R ),[ncbi.nlm.nih.gov] […] affecting the C-terminal of the protein, have been found as causative genes [ 19, 20 ].[ncbi.nlm.nih.gov]

  • Familial Ventricular Tachycardia

    Long QT syndromes are caused by either one of over 370 known mutations concerning sodium potassium and calcium channels and ankyrin-B.[symptoma.com] […] or desmoglein-2 genes.[symptoma.com] […] autosomal dominant or autosomal recessive manner and is caused by abnormalities of chromosomes 14, 12, 10, 7, 6, 3, 2, or 1 encoding desmocollin-2, plakoglobin, plakophilin-2, desmoplakin[symptoma.com]

  • Brugada Syndrome

    An important step was made by the association of ARVC with mutations in the genes encoding the desmosomal proteins plakoglobin ( McKoy et al., 2000 ), desmoplakin ( Rampazzo[doi.org] Since, our understanding of the causative mechanism of ARVC has progressed substantially.[doi.org]

  • Arrhythmogenic Right Ventricular Dysplasia

    The recent identification of causative mutations in plakoglobin, desmoplakin (DSP), and plakophilin-2 (PKP2) genes led to the hypothesis that ARVC is due to desmosomal defects[ncbi.nlm.nih.gov] We have described a new mutation in the desmoplakin gene that causes familial ARVD.[ncbi.nlm.nih.gov] The 5 genes whose mutation(s) cause ARVC include: DSP JUP PKP2 DSG2 And, DSC2 These genes code for desmoplakin, plakoglobin, plakophilin 2, desmoglein 2, and desmocollin 2[dovemed.com]

  • Primary Cardiomyopathy

    Naxos and Carvajal syndromes caused by mutations in genes encoding plakoglobin and desmoplakin, respectively) are recognized, but the majority of cases are caused by autosomal[academic.oup.com] […] dominantly inherited mutations in genes encoding plakophilin 2 and other proteins of the desmosome of cardiomyocytes ( Table 1 ).[academic.oup.com] […] evidence for the disease and/or electrocardiographic abnormalities in accordance with published criteria. 16 Although uncommon (estimated prevalence 1:5000), ARVC is a frequent cause[academic.oup.com]

  • Epidermolysis Bullosa Simplex

    […] by recessive mutations in the gene DSP resulting in truncation of the desmoplakin C‐terminus.[oadoi.org] Interestingly, this is also a feature in Hailey–Hailey disease (MIM#169600), a genodermatosis caused by mutations in the ATP2C1 gene [encoding the secretory pathway Ca 2 [dx.doi.org] One of these phenotypes, lethal acantholytic epidermolysis bullosa (LAEB), is characterized by extensive postnatal shedding of epidermis leading to early demise and is caused[oadoi.org]

  • Palmoplantar Keratosis

    Striate PPK is known to be caused by heterozygous mutations in either the desmoglein 1 (type I striate PPK), desmoplakin (type II striate PPK) or keratin 1 (type III striate[intechopen.com] PPK) gene [ 17 - 20 ]. 5.[intechopen.com]

  • Benign Familial Pemphigus

    1 and 2 and plakoglobin which diffuse into the acantholytic cell cytoplasm ATP2C1 GENE Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca(2 ) pump[thedoctorsdoctor.com] PATHOGENESIS CHARACTERIZATION Autosomal dominant Variable penetrance Chromosome 3q Mechanism of acantholysis Dissolution of desmosomal attachment plaque constituents desmoplakin[thedoctorsdoctor.com]

  • Erythema Palmaris Hereditarium

    Mutations in this gene are the cause of several cardiomyopathies, including dilated cardiomyopathy, mutations in DSP have been associated with striate palmoplantar keratoderma[wikivisually.com] In cardiac muscle, desmoplakin is localized to desmosomes in intercalated discs, in mice overexpressing a C-terminal mutated desmoplakin protein, desmoplakin binding to desmin[wikivisually.com]

  • Pretibial Dystrophic Epidermolysis Bullosa

    .• EBS with muscular dystrophy – genetic defects in plectin gene (PLEC1) 10. • AR EBS caused by keratin 14 knock out mutation• Extremely rare entities, plakophilin deficiency[slideshare.net] […] and lethal acantholytic EB simplex - result from mutations in the genes encoding for plakophilin-1 and desmoplakin, respectively 11.[slideshare.net]

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