Details of Disease | DrugMAP

General Information of Disease (ID: DISTTMHD)

Disease Name	Hypokalemic tubulopathy and deafness
Disease Hierarchy	DISYKSRF: Genetic disease DISTTMHD: Hypokalemic tubulopathy and deafness
Disease Identifiers	MONDO ID MONDO_0859167 UMLS CUI C5543621 OMIM ID 619406 MedGen ID 1785163

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
KCNJ16	OT174UPV	Strong	Autosomal recessive	[1]
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References

1	Variability in a three-generation family with Pierre Robin sequence, acampomelic campomelic dysplasia, and intellectual disability due to a novel ?1 Mb deletion upstream of SOX9, and including KCNJ2 and KCNJ16. Birth Defects Res A Clin Mol Teratol. 2016 Jan;106(1):61-8. doi: 10.1002/bdra.23463. Epub 2015 Dec 11.