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5 Possible Causes for Mutation in the KRT13 Gene

  • White Sponge Nevus

    Genetic Heterogeneity of White Sponge Nevus White sponge nevus-2 (WSN2; {615785}) is caused by mutation in the KRT13 gene ({148065}) on chromosome 17q21.[diseaseinfosearch.org] The novel mutation found in the KRT13 gene is believed to add evidence for a mutational hotspot in the mucosal keratins.[ncbi.nlm.nih.gov] METHODS: Sequence analysis of samples from a WSN Chinese family revealed a mutation (332 T   C) in the KRT13 gene that resulted in the amino acid change Leu111Pro.[ncbi.nlm.nih.gov]

  • Sorsby Syndrome

    Mutations in KRT4 and KRT13, which are expressed ...[kegg.jp] The mutation of genes (KCNH2, KCNQ1, and KCNJ2) encoding for cardiac potassium channels plays a central ...[kegg.jp] Congenital malformation H00725 Short QT syndrome Short QT syndrome (SQTS) is a cardiovascular disorder resulting from mutations in cardiac ion channels.[kegg.jp]

  • Spondyloepimetaphyseal Dysplasia-Hypotrichosis Syndrome

    Mutations in KRT4 and KRT13, which are expressed ...[kegg.jp] The mutation of genes (KCNH2, KCNQ1, and KCNJ2) encoding for cardiac potassium channels plays a central ...[kegg.jp] Congenital malformation H00725 Short QT syndrome Short QT syndrome (SQTS) is a cardiovascular disorder resulting from mutations in cardiac ion channels.[kegg.jp]

  • NISCH Syndrome

    Mutations in KRT4 and KRT13, which are expressed ...[kegg.jp] The mutation of genes (KCNH2, KCNQ1, and KCNJ2) encoding for cardiac potassium channels plays a central ...[kegg.jp] Congenital malformation H00725 Short QT syndrome Short QT syndrome (SQTS) is a cardiovascular disorder resulting from mutations in cardiac ion channels.[kegg.jp]

  • Ichthyosis-Prematurity Syndrome

    Mutations in KRT4 and KRT13, which are expressed ...[kegg.jp] The mutation of genes (KCNH2, KCNQ1, and KCNJ2) encoding for cardiac potassium channels plays a central ...[kegg.jp] Congenital malformation H00725 Short QT syndrome Short QT syndrome (SQTS) is a cardiovascular disorder resulting from mutations in cardiac ion channels.[kegg.jp]

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