Details of Disease

General Information of Disease (ID: DISH9VD5)

• Disease Name: Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss
• Synonyms: renal tubular acidosis, autosomal recessive with preserved hearing; renal tubular acidosis, distal, autosomal recessive, with late-onset sensorineural hearing loss, included; renal tubular acidosis, distal, autosomal recessive, with late-onset sensorineural hearing loss; RTA, distal, autosomal recessive; renal tubular acidosis, autosomal recessive, with preserved hearing; RTADR; distal renal tubular acidosis 3, with or without sensorineural hearing loss; type 1 RTA; classical distal RTA; renal tubular acidosis, distal, autosomal recessive; classical distal renal tubular acidosis; renal tubular acidosis, distal, 3, with or without sensorineural hearing loss; type 1 renal tubular acidosis
• Disease Hierarchy:
  DISZ75RJ: Inherited renal tubular disease
  DISO5FAY: Inborn error of metabolism
  DISCJR4O: Autosomal recessive distal renal tubular acidosis
  DISE1NDR: Renal tubular acidosis
  DISH9VD5: Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss
• Disease Identifiers:
  MONDO ID: MONDO_0011268
  UMLS CUI: C5399980
  OMIM ID: 602722
  MedGen ID: 1732975

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ATP6V0A4	OT149Z7Q	Strong	Autosomal recessive	[1]

References

• [1] Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.