Details of Disease | DrugMAP

General Information of Disease (ID: DISWBUNQ)

Disease Name	Renal tubular acidosis, distal, 4, with hemolytic anemia
Synonyms	renal tubular acidosis, distal, with normal Red cell morphology; RTA, distal, autosomal recessive, with hemolytic Anemia; renal tubular acidosis, distal, with hemolytic anemia; renal tubular acidosis, distal, with hemolytic anaemia; RTA, distal, autosomal recessive, with hemolytic Anaemia; distal renal tubular acidosis 4 with hemolytic anaemia; distal renal tubular acidosis with anemia; dRTA with anaemia; distal renal tubular acidosis with anaemia; dRTA with anemia; distal renal tubular acidosis 4 with hemolytic anemia
Definition	Distal renal tubular acidosis (dRTA) with anemia is a very rare form of distal renal tubular acidosis (dRTA) characterized by a defect in renal acidification and hereditary hemolytic anemia.
Disease Hierarchy	DIS487SI: Hereditary haemolytic anemia DISP6CYE: Distal renal tubular acidosis DISWBUNQ: Renal tubular acidosis, distal, 4, with hemolytic anemia
Disease Identifiers	MONDO ID MONDO_0012700 UMLS CUI C5436235 OMIM ID 611590 MedGen ID 1771439 Orphanet ID 93610

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	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

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