Autosomal recessive distal renal tubular acidosis

rare

The autosomal recessive 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.

Identifiers: MONDO:0018440 Orphanet:402041
Part of: Autosomal recessive disease Inherited distal renal tubular acidosis
Also known as: AR dRTA · autosomal recessive distal renal tubular acidosis (disease) · autosomal recessive distal RTA · distal renal tubular acidosis (disease), autosomal recessive

Subtypes

All diseases Rare only

Disease	ID	Genes
Renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss	MONDO:0009968	ATP6V1B1
Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss	MONDO:0011268	ATP6V0A4
Renal tubular acidosis, distal, 4, with hemolytic anemia	MONDO:0012700	SLC4A1

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