Details of Disease

General Information of Disease (ID: DISWP1UK)

Disease Name Hypomagnesemia 7, renal, with or without dilated cardiomyopathy
Disease Hierarchy
DIS6TTKI: Familial primary hypomagnesemia
DISWP1UK: Hypomagnesemia 7, renal, with or without dilated cardiomyopathy
Disease Identifiers
MONDO ID
MONDO_0859328
UMLS CUI
C5774266
OMIM ID
620152
MedGen ID
1824039

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
RRAGD OTXLVWAH Strong Autosomal dominant [1]
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References

1 mTOR-Activating Mutations in RRAGD Are Causative for Kidney Tubulopathy and Cardiomyopathy. J Am Soc Nephrol. 2021 Nov;32(11):2885-2899. doi: 10.1681/ASN.2021030333. Epub 2021 Oct 4.