Details of Disease | DrugMAP

General Information of Disease (ID: DIS3HIV3)

Disease Name	Pseudohypoaldosteronism type 2C
Synonyms	pseudohypoaldosteronism, type IIC; pseudohypoaldosteronism, type 2C; PHA2C; pseudohypoaldosteronism type 2 caused by mutation in WNK1; WNK1 pseudohypoaldosteronism type 2
Definition	Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the WNK1 gene.
Disease Hierarchy	DISFTCHO: Pseudohypoaldosteronism type 2 DIS3HIV3: Pseudohypoaldosteronism type 2C
Disease Identifiers	MONDO ID MONDO_0013778 MESH ID C564162 UMLS CUI C1840391 OMIM ID 614492 MedGen ID 327089 Orphanet ID 88940

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
WNK1	OT4VYRY3	Strong	Autosomal dominant	[1]
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This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
WNK1	TTJ9UMX	Strong	Autosomal dominant	[1]
WNK1	TTJ9UMX	Strong	CausalMutation	[2]
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References

1	A new locus on chromosome 12p13.3 for pseudohypoaldosteronism type II, an autosomal dominant form of hypertension. Am J Hum Genet. 2000 Aug;67(2):302-10. doi: 10.1086/303020. Epub 2000 Jun 22.
2	Two mutations in the HSN2 gene explain the high prevalence of HSAN2 in French Canadians.Neurology. 2005 May 24;64(10):1762-7. doi: 10.1212/01.WNL.0000161849.29944.43.