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Article

Familial Hyperkalemic Hypertension.

Comprehensive Physiology - 19 Dec 2024

Cornelius Ryan J, Maeoka Yujiro, Shinde Ujwal, McCormick James A

Abstract excerpt

The rare disease Familial Hyperkalemic Hypertension (FHHt) is caused by mutations in the genes encoding Cullin 3 (CUL3), Kelch-Like 3 (KLHL3), and two members of the With-No-Lysine [K] (WNK) kinase family, WNK1 and WNK4. In the kidney, these mutations ultimately cause hyperactivation of NCC along the renal distal convoluted tubule. Hypertension results from increased NaCl retention, and hyperkalemia by impaired K...

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Topics

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Share to Adaptor Proteins, Signal Transducing
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 39699086
DOI: 10.1002/cphy.c240004
PMCID: PMC12327360

Genes

CUL3
KLHL3
WNK1
WNK4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

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Research trail→

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Familial Hyperkalemic Hypertension.PMID 39699086Read ↗

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Hypertension-causing cullin 3 mutations disrupt COP9 signalosome binding.Semantic proximity Read ↗

Mutant Cullin 3 causes familial hyperkalemic hypertension via dominant effects.Semantic proximity Read ↗

Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities.Semantic proximity Read ↗

Detection of mutations in KLHL3 and CUL3 in families with FHHt (familial hyperkalaemic hypertension or Gordon's syndrome).Semantic proximity Read ↗

Regulation of blood pressure and renal electrolyte balance by Cullin-RING ligases.Semantic proximity Read ↗

The Molecular Genetics of Gordon Syndrome.Semantic proximity Read ↗

The variety of genetic defects explains the phenotypic heterogeneity of Familial Hyperkalemic HypertensionSemantic proximity Read ↗

Characterisation of the Cullin-3 mutation that causes a severe form of familial hypertension and hyperkalaemia.Semantic proximity Read ↗

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