Details of Disease

General Information of Disease (ID: DIS8M3CV)

• Disease Name: Proximal renal tubular acidosis
• Synonyms: RTA, proximal type; renal tubular acidosis 2; renal tubular acidosis, proximal; RTA, rate type; pRTA; Type 2 RTA; Type 2 renal tubular acidosis; renal tubular acidosis type 2
• Definition: Proximal renal tubular acidosis (pRTA) is a tubular kidney disease characterized by impaired ability of the proximal tubule to reabsorb bicarbonate from the glomerular filtrate leading to hyperchloremic metabolic acidosis.
• Disease Hierarchy:
  DISE1NDR: Renal tubular acidosis
  DIS8M3CV: Proximal renal tubular acidosis
• Disease Identifiers:
  MONDO ID: MONDO_0008369
  MESH ID: D000141
  UMLS CUI: C0268435
  OMIM ID: 179830
  MedGen ID: 82804
  HPO ID: HP:0002049
  Orphanet ID: 47159
  SNOMED CT ID: 24790002

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SLC9A3	TTFZVPO	Strong	Biomarker	[1]

This Disease Is Related to 2 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC4A1	DTB0Q3P	moderate	Biomarker	[2]
SLC4A4	DTWDEIL	Strong	Biomarker	[3]

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
EHHADH	OTBAAHL5	Strong	Genetic Variation	[3]
MRGPRF	OT74OZ2Z	Strong	Biomarker	[4]
RBFOX2	OTXY1WVH	Strong	Biomarker	[4]

References

• [1] Molecular basis of proximal renal tubular acidosis.J Nephrol. 2002 Mar-Apr;15 Suppl 5:S135-41.
• [2] Functional rescue of a kidney anion exchanger 1 trafficking mutant in renal epithelial cells.PLoS One. 2013;8(2):e57062. doi: 10.1371/journal.pone.0057062. Epub 2013 Feb 27.
• [3] Molecular Pathophysiology of Acid-Base Disorders.Semin Nephrol. 2019 Jul;39(4):340-352. doi: 10.1016/j.semnephrol.2019.04.004.
• [4] Hereditary renal tubular disorders in Turkey: demographic, clinical, and laboratory features.Clin Exp Nephrol. 2011 Feb;15(1):108-13. doi: 10.1007/s10157-010-0367-z. Epub 2010 Nov 20.