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Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation

MedGen UID:
1843117
Concept ID:
C5680390
Disease or Syndrome
Synonym: Gitelman-like kidney tubulopathy due to mtDNA mutation
 
Monarch Initiative: MONDO:0850089
Orphanet: ORPHA620371

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGitelman-like kidney tubulopathy due to mitochondrial DNA mutation

Recent clinical studies

Diagnosis

Viering D, Schlingmann KP, Hureaux M, Nijenhuis T, Mallett A, Chan MMY, van Beek A, van Eerde AM, Coulibaly JM, Vallet M, Decramer S, Pelletier S, Klaus G, Kömhoff M, Beetz R, Patel C, Shenoy M, Steenbergen EJ, Anderson G, Bongers EMHF, Bergmann C, Panneman D, Rodenburg RJ, Kleta R, Houillier P, Konrad M, Vargas-Poussou R, Knoers NVAM, Bockenhauer D, de Baaij JHF; Genomics England Research Consortium
J Am Soc Nephrol 2022 Feb;33(2):305-325. Epub 2021 Oct 4 doi: 10.1681/ASN.2021050596. PMID: 34607911Free PMC Article

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