Details of Disease

General Information of Disease (ID: DIS2AO4N)

Disease Name Pseudohypoaldosteronism type 2D
Synonyms
familial hyperkalemic hypertension; pseudohypoaldosteronism, type 2D; pseudohypoaldosteronism, type IID; pseudohypoaldosteronism type 2 caused by mutation in KLHL3; PHA2D; KLHL3 pseudohypoaldosteronism type 2
Definition Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the KLHL3 gene.
Disease Hierarchy
DISFTCHO: Pseudohypoaldosteronism type 2
DIS2AO4N: Pseudohypoaldosteronism type 2D
Disease Identifiers
MONDO ID
MONDO_0013781
UMLS CUI
C3469605
OMIM ID
614495
MedGen ID
483335
Orphanet ID
300525

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 4 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
SLC12A3 TTP362L Limited Altered Expression [1]
CUL3 TTPCU0Q Strong Biomarker [2]
SLC12A1 TTS087L Strong Biomarker [3]
WNK1 TTJ9UMX Strong Genetic Variation [2]
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This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
KLHL3 OTEJ6850 Strong Autosomal dominant [4]
MED7 OTGF64SM Strong Biomarker [5]
STK24 OTGUHOIL Strong Genetic Variation [1]
TRPV5 OTWF4L0U Strong Biomarker [6]
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References

1 Consequences of SPAK inactivation on Hyperkalemic Hypertension caused by WNK1 mutations: evidence for differential roles of WNK1 and WNK4.Sci Rep. 2018 Feb 19;8(1):3249. doi: 10.1038/s41598-018-21405-x.
2 Severe Arterial Hypertension from Cullin 3 Mutations Is Caused by Both Renal and Vascular Effects.J Am Soc Nephrol. 2019 May;30(5):811-823. doi: 10.1681/ASN.2017121307. Epub 2019 Apr 9.
3 With no lysine kinase 4 modulates sodium potassium 2 chloride cotransporter activity in vivo.Am J Physiol Renal Physiol. 2018 Oct 1;315(4):F781-F790. doi: 10.1152/ajprenal.00485.2017. Epub 2018 Feb 7.
4 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
5 Mechanisms and controversies in mutant Cul3-mediated familial hyperkalemic hypertension.Am J Physiol Renal Physiol. 2018 May 1;314(5):F915-F920. doi: 10.1152/ajprenal.00593.2017. Epub 2018 Jan 17.
6 WNK4 enhances TRPV5-mediated calcium transport: potential role in hypercalciuria of familial hyperkalemic hypertension caused by gene mutation of WNK4.Am J Physiol Renal Physiol. 2007 Feb;292(2):F545-54. doi: 10.1152/ajprenal.00187.2006. Epub 2006 Oct 3.