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412 Possible Causes for ARG280PRO, CLCN5

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  • Vitamin A

    All these patients were found to have novel mutations in the CLCN5 gene.[ncbi.nlm.nih.gov] The disease is caused by mutations in a renal chloride channel gene, CLCN5.[ncbi.nlm.nih.gov]

    Missing: ARG280PRO
  • Budd-Chiari Syndrome

    Abstract We present the case of a young boy with Dent's disease, identified as having a mutation in the kidney-specific chloride-proton antitransporter CLCN5 during investigation[ncbi.nlm.nih.gov]

    Missing: ARG280PRO
  • Proteinuria

    We detected a novel CLCN5 gene mutation, c.1396G C, that creates a G466R missense change in the ClC-5 protein.[ncbi.nlm.nih.gov] […] occur in certain congenital metabolic tubulopathies, such as Fanconi syndrome or X-linked recessive nephrolithiasis with kidney failure that results from a mutation in the CLCN5[emedicine.medscape.com]

    Missing: ARG280PRO
  • Hypophosphatemic Rickets

    No mutations were identified in FGF23, SLC34A3 or CLCN5.[ncbi.nlm.nih.gov] CLCN5 Specificity 100 % Genes 100 % Dent disease type I (sequence analysis of CLCN5 gene). By CGC Genetics in Portugal.[mendelian.co] X-linked forms There are two forms of X-linked hypophosphatemic rickets: X-linked dominant ( PHEX gene mutations) and X-linked recessive ( CLCN5 gene mutations).[bredagenetics.com]

    Missing: ARG280PRO
  • Focal Glomerulosclerosis

    In all families, a causal mutation in the CLCN5 gene, encoding a voltage-gated chloride transporter and chloride-proton exchanger, was identified.[ncbi.nlm.nih.gov] Genetic analysis for Dent disease indicated a mutation (c.726 1G A) in Chloride Channel, Voltage-Sensitive 5 (CLCN5).[ncbi.nlm.nih.gov]

    Missing: ARG280PRO
  • Renal Stone

    Scientists in Great Britain precisely identified this responsible gene as ClCN5, which encodes a kidney-specific voltage gated chloride channel.[mayo.edu]

    Missing: ARG280PRO
  • Night Blindness

    All these patients were found to have novel mutations in the CLCN5 gene.[ncbi.nlm.nih.gov] The disease is caused by mutations in a renal chloride channel gene, CLCN5.[ncbi.nlm.nih.gov]

    Missing: ARG280PRO
  • Psychomotor Retardation

    The disruption and partial loss of CLCN5 confirmed the diagnostic of Dent disease for this patient.[molecularcytogenetics.biomedcentral.com] Generally, molecular genetic testing and the presence of a CLCN5 mutation confirm the diagnosis.[molecularcytogenetics.biomedcentral.com] The Xp11.22 deletions with loss of CLCN5 gene allowed us to confirm the diagnostic of Dent disease for our patient.[molecularcytogenetics.biomedcentral.com]

    Missing: ARG280PRO
  • Rickets

    Novel CLCN5 (c.1205G A, p.W402*) and FGF23 (c.526C G, p.R176G) mutations were found in two patients from the remaining two families.[ncbi.nlm.nih.gov] CONTEXT: Hypophosphataemic rickets (HR) is a group of rare hereditary renal phosphate wasting disorders caused by mutations in PHEX, FGF23, DMP1, ENPP1, CLCN5 or SLC34A3.[ncbi.nlm.nih.gov] METHODS: We analysed genomic DNA from nine unrelated families for mutations in the entire coding region of PHEX, FGF23, DMP1, ENPP1, CLCN5 or SLC34A3 by PCR sequencing and[ncbi.nlm.nih.gov]

    Missing: ARG280PRO
  • Growth Hormone Deficiency

    It is most often associated with mutations in CLCN5, which encodes the endosomal electrogenic chloride/proton exchanger ClC-5.[ncbi.nlm.nih.gov] We report on a 5-year-old boy with Dent disease caused by mutation in CLCN5 gene, c.1073G A, who presented with hypokalemic metabolic alkalosis and hyperreninemic hyperaldosteronism[ncbi.nlm.nih.gov]

    Missing: ARG280PRO

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