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316 Possible Causes for CLCNKA, gene

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  • Hereditary Hypophosphatemic Rickets with Hypercalciuria

    DESIGN AND SETTING: Mutation analysis of exons and adjacent introns in the SLC34A3 gene was conducted at an academic research laboratory and medical center.[scholars.duke.edu] SLC12A1, COL4A5, PKD2, PKD1, FGF23, CACNA1H, SCARB2, COL4A1, KCNJ10, OFD1, SALL1, ATP6V1B1, CD151, CACNA1D, COL4A6, NLRP3, SIX5, SIX1, GATA3, MYH9, SEMA3E, FOXP1, WDR35, CLCNKA[mendelian.co] DESIGN AND SETTING Mutation analysis of exons and adjacent introns in the SLC34A3 gene was conducted at an academic research laboratory and medical center.[unboundmedicine.com]

  • Trigonocephaly

    Hoxa1 is a key gene for skull development as well as for brain development and one of the clinical characteristics of Rett syndrome is deceleration in head growth.[ncbi.nlm.nih.gov] INS, PDX1, HNF4A, INF2, UMOD, COL4A4, LAMB2, SLC12A3, ACTN4, BSND, PLCE1, CLCNKB, TRPC6, KCNJ1, SLC12A1, COL4A5, PKD2, PKD1, KCNJ10, OFD1, SALL1, SIX5, SIX1, GATA3, MYH9, CLCNKA[mendelian.co] Microarray chromosomal analysis revealed the presence of a homozygous deletion involving the PTPRD gene, located on chromosome 9p22.3.[hal-amu.archives-ouvertes.fr]

  • Hypophosphatemic Rickets

    RESULTS: Sequencing of all coding exons and exon-intron junctions of DMP1 and FGF23 genes showed no mutation.[ncbi.nlm.nih.gov] INS, PDX1, HNF4A, INF2, UMOD, COL4A4, LAMB2, SLC12A3, ACTN4, BSND, PLCE1, CLCNKB, TRPC6, KCNJ1, SLC12A1, COL4A5, PKD2, PKD1, KCNJ10, OFD1, SALL1, SIX5, SIX1, GATA3, MYH9, CLCNKA[mendelian.co] The PHEX gene (phosphate regulating gene with homologies to endopeptidases on the X chromosome) encodes a 749-amino acid protein that putatively consists of an intracellular[ncbi.nlm.nih.gov]

  • Congenital Afibrinogenemia

    In conclusion, the majority of patients have truncating mutations in the FGA gene although, intuitively, all three fibrinogen genes could be predicted to be equally implicated[ncbi.nlm.nih.gov] SLC12A1, COL4A5, PKD2, PKD1, FGF23, CACNA1H, SCARB2, COL4A1, KCNJ10, OFD1, SALL1, ATP6V1B1, CD151, CACNA1D, COL4A6, NLRP3, SIX5, SIX1, GATA3, MYH9, SEMA3E, FOXP1, WDR35, CLCNKA[mendelian.co] These were homozygous deletions of approximately 11 kb of the fibrinogen alpha chain gene (FGA).[ncbi.nlm.nih.gov]

  • Nephrogenic Syndrome of Inappropriate Antidiuresis

    We suspected NSIAD in this family, sequenced the AVPR2 gene, and were able to identify the heterozygous missense mutation c.409C T (p.R137C) in the proposita, subsequently[thieme-connect.com] KCNJ10, OFD1, SALL1, ATP6V1B1, CACNA1D, DCDC2, SIX5, PRPS1, SIX1, GATA3, MYH9, PEX6, TMEM231, KIAA0586, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10, PEX5, KAT6B, WDR35, CLCNKA[mendelian.co] She was a heterozygous carrier of the c.409 C T mutation in the AVPR2 gene.[ncbi.nlm.nih.gov]

  • Antenatal Bartter Syndrome

    This could eventually be explained by the presence of other gene variants or environmental factors modifying the phenotypes.[ncbi.nlm.nih.gov] The genes are SLC12A1, KCNJ1, CLCNKB, CLCNKA, and BSND genes.[dovemed.com] Type IV can result from mutations in the BSND gene or from a combination of mutations in the CLCNKA and CLCNKB genes.[ghr.nlm.nih.gov]

  • Bartter's Disease

    In Gitelman Syndrome this gene is called SLC12A3 In Type 3 Bartter Syndrome the gene is called CLCNKB Everyone has 2 copies of the gene involved, one from each parent: Healthy[rarerenal.org] The genes are SLC12A1, KCNJ1, CLCNKB, CLCNKA, and BSND genes.[dovemed.com] Description Order Options: Sequencing Del/Dup Rush / STAT Exclude VUS MCC Duo/Trio Turnaround Time: 3 - 5 weeks Cost: Call for details Genes: ATP6V1B1, BSND, CA2, CASR, CLCNKA[fulgentgenetics.com]

  • Nephropathic Cystinosis

    This gene encodes a previously unknown protein that is predicted to function as a carbohydrate kinase.[ncbi.nlm.nih.gov] 2 CLCF1 : cardiotrophin-like cytokine factor 1 CLCN1 : chloride voltage-gated channel 1 CLCN5 : chloride voltage-gated channel 5 CLCN7 : chloride voltage-gated channel 7 CLCNKA[herenciageneticayenfermedad.blogspot.com] Several mutations have been described in the coding and promoter regions of the CTNS gene in affected individuals.[ncbi.nlm.nih.gov]

  • Nephrotic Syndrome Type 9

    ZFIN ID: ZDB-GENE-060503-803 Gene Name: coenzyme Q8B Gene Symbol: coq8b Sequence Ontology ID : SO:0000704 {{control.fieldName}} Edit ID: {{control.nomenID}} {{control.fieldName[zfin.org] INS, PDX1, HNF4A, INF2, UMOD, COL4A4, LAMB2, SLC12A3, ACTN4, BSND, PLCE1, CLCNKB, TRPC6, KCNJ1, SLC12A1, COL4A5, PKD2, PKD1, KCNJ10, OFD1, SALL1, SIX5, SIX1, GATA3, MYH9, CLCNKA[mendelian.co] The COQ8B (ADCK4) gene encodes a protein kinase that is involved in Coenzyme Q10 regulation.[moldiag.com]

  • Distal Renal Tubular Acidosis

    Large deletions in the ATP6V0A4 gene were identified in two kindreds.[ncbi.nlm.nih.gov] […] within the tubular cell failure of Na /K -2Cl - cotransporter impaired reabsorption of chloride Classic IV Type IVa: Inactivation of BSND Type IVb: Inactivation of CLCNKB and CLCNKA[amboss.com] A large proportion of autosomal recessive distal renal tubular acidosis (RTA) is associated with mutations in the ATP6B1 gene encoding the B1 subunit of H -ATPase.[ncbi.nlm.nih.gov]

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