Details of Disease

General Information of Disease (ID: DISFTCHO)

Disease Name Pseudohypoaldosteronism type 2
Synonyms
hyperpotassemia and hypertension familial; Gordon syndrome; pseudohypoaldosteronism, type 2; familial hyperkalemic hypertension; hyperkalemia-hypertension syndrome, Gordon type; Gordon hyperkalemia-hypertension syndrome; pseudohypoaldosteronism, type II; chloride shunt syndrome; PHA2; PHAII; Spitzer-Weinstein syndrome; mineralocorticoid resistant hyperkalemia; hypertensive hyperkalemia
Definition A rare inherited form of hypertension characterized by hyperkalemia, hyperchloremic metabolic acidosis, normal or elevated aldosterone, low renin, and normal renal function.
Disease Hierarchy
:
DISFTCHO: Pseudohypoaldosteronism type 2
Disease Identifiers
MONDO ID
MONDO_0019162
MESH ID
D011546
UMLS CUI
C1449844
MedGen ID
259599
Orphanet ID
757
SNOMED CT ID
15689008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
NR3C2 TT26PHO Limited Genetic Variation [1]
KCNJ1 TTJ13ST moderate Altered Expression [2]
CUL3 TTPCU0Q Strong Genetic Variation [3]
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This Disease Is Related to 5 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CLDN8 OT7IIWXG moderate Biomarker [4]
PIEZO2 OTQ7AT38 Strong Genetic Variation [5]
SCNN1A OTE2KVZV Strong Biomarker [6]
SCNN1G OTSJYQVQ Strong Biomarker [7]
STK24 OTGUHOIL Strong Altered Expression [8]
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References

1 Mendelian hypertension with brachydactyly as a molecular genetic lesson in regulatory physiology.Am J Physiol Regul Integr Comp Physiol. 2003 Oct;285(4):R709-14. doi: 10.1152/ajpregu.00174.2003.
2 Gordon Syndrome: a continuing story.Pediatr Nephrol. 2015 Nov;30(11):1903-8. doi: 10.1007/s00467-014-2956-7. Epub 2014 Dec 11.
3 A familial case of pseudohypoaldosteronism type II (PHA2) with a novel mutation (D564N) in the acidic motif in WNK4.Mol Genet Genomic Med. 2019 Jun;7(6):e705. doi: 10.1002/mgg3.705. Epub 2019 May 1.
4 Paracellular transport in the collecting duct.Curr Opin Nephrol Hypertens. 2016 Sep;25(5):424-8. doi: 10.1097/MNH.0000000000000253.
5 Mutations in PIEZO2 contribute to Gordon syndrome, Marden-Walker syndrome and distal arthrogryposis: A bioinformatics analysis of mechanisms.Exp Ther Med. 2019 May;17(5):3518-3524. doi: 10.3892/etm.2019.7381. Epub 2019 Mar 13.
6 Association of a sodium channel alpha subunit promoter variant with blood pressure.J Am Soc Nephrol. 2002 Jan;13(1):80-85. doi: 10.1681/ASN.V13180.
7 A novel splice-site mutation in the gamma subunit of the epithelial sodium channel gene in three pseudohypoaldosteronism type 1 families.Nat Genet. 1996 Jun;13(2):248-50. doi: 10.1038/ng0696-248.
8 Regulation of with-no-lysine kinase signaling by Kelch-like proteins.Biol Cell. 2014 Feb;106(2):45-56. doi: 10.1111/boc.201300069. Epub 2014 Jan 10.