Details of Disease | DrugMAP

General Information of Disease (ID: DIS2WNMZ)

Disease Name	Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
Synonyms	Hupra syndrome; hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome; HUPRAS; HUPRA syndrome; hyperuricemia, pulmonary hypertension, renal failure, and alkalosis
Disease Hierarchy	DISZ75RJ: Inherited renal tubular disease DIS1RSP5: Pulmonary hypertension DISK7IP8: Mitochondrial oxidative phosphorylation disorder DIS2WNMZ: Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
Disease Identifiers	MONDO ID MONDO_0013458 UMLS CUI C3151209 OMIM ID 613845 MedGen ID 462559 Orphanet ID 363694 SNOMED CT ID 776416004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SARS2	OTU4T99W	Strong	Autosomal recessive	[1]
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References

1	A new mutation in the gene encoding mitochondrial seryl-tRNA synthetase as a cause of HUPRA syndrome. BMC Nephrol. 2013 Sep 13;14:195. doi: 10.1186/1471-2369-14-195.