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pseudohypoaldosteronism, type IB3, autosomal recessive - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

pseudohypoaldosteronism, type IB3, autosomal recessive

MONDO:0859318

Overview

GeneticsAutosomal recessive · SCNN1G (chr 16)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Vomiting, Increased circulating renin concentration, Hyperkalemia, and Increased circulating aldosterone concentration and others.

Organ System	Phenotype Count	Example Features
Lab test results	2	Increased circulating renin concentration, Increased circulating aldosterone concentration

Genetic Landscape

SCNN1G function has not been fully characterized.

Pseudohypoaldosteronism, type IB3, autosomal recessive is associated with mutations in the SCNN1G gene on chromosome 16.

Diagnosis

Genetic testing for SCNN1G is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 7 always present features.

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 1:12 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620126

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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pseudohypoaldosteronism, type IB3, autosomal recessive

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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