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4 Possible Causes for Mutation in the KITLG Gene

  • Familial Progressive Hyper- and Hypopigmentation

    The KITLG gene was screened for the presence of mutations.[ncbi.nlm.nih.gov] It is caused by a pathogenic mutation of the KITLG gene. Objectives: To investigate the clinical features and mutation of the KITLG gene in a Chinese family with FPHH.[biblioteca.universia.net] It is caused by a pathogenic mutation of the KITLG gene. OBJECTIVES To investigate the clinical features and mutation of the KITLG gene in a Chinese family with FPHH.[semanticscholar.org]

  • Chromophobe Renal Cell Carcinoma

    Sequencing analysis of the KIT gene in the three chromophobe RCCs demonstrated no mutation in the region.[nature.com] Overexpression of wild-type KIT and coexpression of KITLG are indicated to be involved in the transformation of NIH3T3 fibroblasts ( Caruana et al., 1998 ) and the tumorigenesis[nature.com]

  • Acromelanosis

    […] in the KIT ligand gene (KITLG, 184745.0003)[findzebra.com] […] in the KIT ligand gene (KITLG; 184745) on chromosome 12q22.Familial progressive hyperpigmentation with or without hypopigmentation (FPHH) is characterized by diffuse hyperpigmentation[findzebra.com] […] number sign (#) is used with this entry because of evidence that familial progressive hyperpigmentation with or without hypopigmentation (FPHH) is caused by heterozygous mutation[findzebra.com]

  • Testicular Germ Cell Tumor

    Recent genome-wide association studies have identified single-nucleotide polymorphisms in the KITLG gene, the ligand for the cKIT tyrosine kinase receptor, as strong modifiers[ncbi.nlm.nih.gov] We reported inactivating germline mutations of the cAMP-binding phosphodiesterase 11A (PDE11A) as modifiers of FTGCT risk.[ncbi.nlm.nih.gov] BACKGROUND: Familial testicular germ cell tumors (FTGCTs) are hypothesized to result from the combined interaction of multiple low-penetrance genes.[ncbi.nlm.nih.gov]

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