Details of Disease | DrugMAP

General Information of Disease (ID: DISY3SSY)

Disease Name	Autosomal recessive proximal renal tubular acidosis
Synonyms	RTA, proximal, autosomal recessive; renal tubular acidosis, proximal, with ocular abnormalities and intellectual disability; renal tubular acidosis, proximal, with ocular abnormalities and mental retardation; proximal renal tubular acidosis with ocular abnormalities and intellectual disability; AR pRTA; proximal renal tubular acidosis, autosomal recessive; renal tubular acidosis, proximal, with ocular abnormalities
Definition	Autosomal recessive proximal renal tubular acidosis (AR pRTA) is a rare form of proximal renal tubular acidosis (pRTA) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequentially to urinary bicarbonate wastage along with additional characteristic clinical features.
Disease Hierarchy	DISZ75RJ: Inherited renal tubular disease DISCPWH9: Autosomal recessive disease DIS8M3CV: Proximal renal tubular acidosis DISO5FAY: Inborn error of metabolism DISY3SSY: Autosomal recessive proximal renal tubular acidosis
Disease Identifiers	MONDO ID MONDO_0011422 MESH ID C567038 UMLS CUI C1970309 OMIM ID 604278 MedGen ID 370883 Orphanet ID 93607

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC4A4	DTWDEIL	Strong	Genetic Variation	[1]
SLC4A4	DTWDEIL	Definitive	Autosomal recessive	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SLC4A4	OT727K92	Definitive	Autosomal recessive	[2]
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References

1	Functional analysis of a novel missense NBC1 mutation and of other mutations causing proximal renal tubular acidosis.Pflugers Arch. 2008 Jan;455(4):583-93. doi: 10.1007/s00424-007-0319-y. Epub 2007 Jul 28.
2	Mutations in SLC4A4 cause permanent isolated proximal renal tubular acidosis with ocular abnormalities. Nat Genet. 1999 Nov;23(3):264-6. doi: 10.1038/15440.