Details of Disease | DrugMAP

General Information of Disease (ID: DISL94EJ)

Disease Name	Hypokalemic alkalosis, familial, with specific renal tubulopathy
Synonyms	hypokalemia, familial; Gullner syndrome; hypokalemic alkalosis, familial, with specific renal tubulopathy
Disease Hierarchy	DISYKSRF: Genetic disease DISL94EJ: Hypokalemic alkalosis, familial, with specific renal tubulopathy
Disease Identifiers	MONDO ID MONDO_0009423 MESH ID C562654 UMLS CUI C0268444 OMIM ID 241150 MedGen ID 78677 SNOMED CT ID 81987005

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	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.