Details of Disease | DrugMAP

General Information of Disease (ID: DISCJR4O)

Disease Name	Autosomal recessive distal renal tubular acidosis
Synonyms	autosomal recessive distal RTA; autosomal recessive distal renal tubular acidosis (disease); distal renal tubular acidosis (disease), autosomal recessive; AR dRTA
Definition	Autosomal recessive distal renal tubular acidosis (AR dRTA) is an inherited form of distal renal tubular acidosis (dRTA) characterized by hypokalemic hyperchloremic metabolic acidosis. Deafness often occurs either early or later on in life but may be absent or never be diagnosed.
Disease Hierarchy	DISCPWH9: Autosomal recessive disease DISP6CYE: Distal renal tubular acidosis DISCJR4O: Autosomal recessive distal renal tubular acidosis
Disease Identifiers	MONDO ID MONDO_0018440 MESH ID C537758 UMLS CUI C1864498 MedGen ID 351142 Orphanet ID 402041

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC4A1	DTB0Q3P	Strong	Genetic Variation	[1]
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This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ATP6V0A4	OT149Z7Q	Supportive	Autosomal recessive	[2]
ATP6V1B1	OT8FQ7MN	Supportive	Autosomal recessive	[2]
FOXI1	OT2UFOE2	Supportive	Autosomal recessive	[3]
OSGEP	OT38HX9V	Strong	Genetic Variation	[4]
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References

1	Molecular Diagnosis of Solute Carrier Family 4 Member 1 (SLC4A1) Mutation-Related Autosomal Recessive Distal Renal Tubular Acidosis.Lab Med. 2019 Jan 1;50(1):78-86. doi: 10.1093/labmed/lmy051.
2	Mutational analyses of the ATP6V1B1 and ATP6V0A4 genes in patients with primary distal renal tubular acidosis. Nephrol Dial Transplant. 2013 Aug;28(8):2123-30. doi: 10.1093/ndt/gft216. Epub 2013 May 31.
3	Acidosis and Deafness in Patients with Recessive Mutations in FOXI1. J Am Soc Nephrol. 2018 Mar;29(3):1041-1048. doi: 10.1681/ASN.2017080840. Epub 2017 Dec 14.
4	Trafficking defects of a novel autosomal recessive distal renal tubular acidosis mutant (S773P) of the human kidney anion exchanger (kAE1).J Biol Chem. 2004 Sep 24;279(39):40960-71. doi: 10.1074/jbc.M405356200. Epub 2004 Jul 13.