Details of Disease | DrugMAP

General Information of Disease (ID: DISQT12L)

Disease Name	Hyperuricemic nephropathy, familial juvenile type 4
Synonyms	hyperuricemic NEPHROPATHY, familial juvenile, 4; familial juvenile hyperuricemic nephropathy caused by mutation in SEC61A1; hyperuricemic nephropathy, familial juvenile, type 4; hyperuricemic nephropathy, familial juvenile, 4; tubulointerstitial kidney disease, autosomal dominant, 5; HNFJ4; SEC61A1-related autosomal dominant tubulointerstitial kidney disease; SEC61A1 familial juvenile hyperuricemic nephropathy; ADTKD-SEC61A1
Definition	Any familial juvenile hyperuricemic nephropathy in which the cause of the disease is a mutation in the SEC61A1 gene.
Disease Hierarchy	DISW1LRN: SEC61A1 deficiency DIS6ATU4: Familial juvenile hyperuricemic nephropathy DISQT12L: Hyperuricemic nephropathy, familial juvenile type 4
Disease Identifiers	MONDO ID MONDO_0014891 UMLS CUI C4310741 OMIM ID 617056 MedGen ID 934708

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
SEC61A1	OTLBE3CB	Strong	Autosomal dominant	[1]
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References

1	A point mutation in Sec61alpha1 leads to diabetes and hepatosteatosis in mice. Diabetes. 2010 Feb;59(2):460-70. doi: 10.2337/db08-1362. Epub 2009 Nov 23.