Details of Disease

General Information of Disease (ID: DIS2NR2W)

• Disease Name: Autosomal dominant distal renal tubular acidosis
• Synonyms: RTA, gradient type; renal tubular acidosis 1; RTA, classic type; renal tubular acidosis, distal, autosomal dominant; autosomal dominant SLC4A1-associated distal renal tubular acidosis; RTA, distal type, autosomal dominant; AD dRTA; distal renal tubular acidosis (disease), autosomal dominant; autosomal dominant distal renal tubular acidosis (disease); distal renal tubular acidosis 1
• Definition: Autosomal dominant distal renal tubular acidosis (AD dRTA) is an inherited form of distal renal tubular acidosis (dRTA) characterized by hyperchloremic metabolic acidosis often but not always associated with hypokalemia.
• Disease Hierarchy:
  DIS3HIWD: Autosomal dominant disease
  DISP6CYE: Distal renal tubular acidosis
  DIS2NR2W: Autosomal dominant distal renal tubular acidosis

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC4A1	DTB0Q3P	Strong	Autosomal dominant	[1]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SLC4A1	OT3EFUK8	Strong	Autosomal dominant	[1]

References

• [1] Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.