Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Three cases of Gordon syndrome with dominant KLHL3 mutations.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Mar 2017

Park Ji Soo, Park Eujin, Hyun Hye Sun, Ahn Yo Han, Kang Hee Gyung, Ha Il-Soo, Cheong Hae Il

Abstract excerpt

BACKGROUND: Gordon syndrome (GS) is a rare form of monogenic hypertension characterized by low renin hypertension, hyperkalemia, hyperchloremic metabolic acidosis, and normal glomerular filtration rate. To date, four genes causing GS have been identified as: WNK1, WNK4, CUL3, and KLHL3. CASE PRESENTATION: We report three cases of GS in two families. All patients presented with typical clinical features of GS and...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adaptor Proteins, Signal Transducing
Share to Arthrogryposis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Carrier Proteins

Share to Cleft Palate

Share to Clubfoot

Share to Genes, Dominant

Share to Hand Deformities, Congenital

Share to Microfilament Proteins

Source

Identifiers

PMID: 28222034
DOI: 10.1515/jpem-2016-0309

Genes

KLHL3
CUL3
WNK1
WNK4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Three cases of Gordon syndrome with dominant KLHL3 mutations.PMID 28222034Read ↗

The Molecular Genetics of Gordon Syndrome.Semantic proximity Read ↗

Gordon syndrome caused by a CUL3 mutation in a patient with short stature in Korea: a case report.Semantic proximity Read ↗

Genotype-phenotype correlation in Gordon's syndrome: report of two cases carrying novel heterozygous mutations.Semantic proximity Read ↗

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

KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron.Semantic proximity Read ↗

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

Molecular insights from dysregulation of the thiazide-sensitive WNK/SPAK/NCC pathway in the kidney: Gordon syndrome and thiazide-induced hyponatraemia.Semantic proximity Read ↗

A Novel Homozygous KLHL3 Mutation as a Cause of Autosomal Recessive Pseudohypoaldosteronism Type II Diagnosed Late in Life.Semantic proximity Read ↗

Liddle syndrome: clinical and genetic profiles.Semantic proximity Read ↗

Identification of two novel mutations in SLC12A3 gene in two Chinese pedigrees with Gitelman syndrome and review of literature.Semantic proximity Read ↗

Digenetic inheritance of SLC12A3 and CLCNKB genes in a Chinese girl with Gitelman syndromeSemantic proximity Read ↗

Liddle Syndrome: Review of the Literature and Description of a New Case.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.