Genopathy
Gene-Disorder Association · Article
Gene
KLHL3
Kelch Like Family Member 3
Disorder
Pseudohypoaldosteronism, Type Iid
First reported 2012
Supporting publications 3
Key publication · gene–disorder KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron.Nature genetics · 2012
Key publication · disorder Maximum binding of ouabain to erythrocytes in relation to a family history of essential hypertension, sodium balance and body weight in normotensive children.Nihon Jinzo Gakkai shi · 1992
Manually curated
Association Review

In brief

The association between KLHL3 (Kelch Like Family Member 3) and Pseudohypoaldosteronism, Type Iid is well established and manually curated, with its 5 contributing sources — 4 of them expert-curated — recording a known molecular basis, likely-pathogenic variants, and a causative germline mutation.

Sources 5
Clinical variants 206
Symptoms 9
Compounds 0
Trials 0
Publications 3
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

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02
Provenance

Evidence and sources

5 sources

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

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03
KLHL3

The gene

1 source summary

A gene summary alongside the source descriptions it was distilled from.

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04
Pseudohypoaldosteronism, Type Iid

The disorder

9 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

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05
Phenotype

Clinical features

5 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

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06
ClinVar and variant evidence

Genetic basis

206 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

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07
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

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08
Literature

Reading

3 publications

Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.

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09
Provenance

References & sources

11 references

Every source and publication cited across this dossier, as one numbered reference list.

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