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pseudohypoaldosteronism, type IB2, autosomal recessive - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

pseudohypoaldosteronism, type IB2, autosomal recessive

MONDO:0859317

Overview

GeneticsAutosomal recessive · SCNN1B (chr 16)

ResearchLimited published research (1 article)

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: Hyperkalemia, Increased circulating renin concentration, Increased circulating aldosterone concentration, and Dehydration and 3 more.

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

Genetic Landscape

SCNN1B function has not been fully characterized.

Pseudohypoaldosteronism, type IB2, autosomal recessive is associated with mutations in the SCNN1B gene on chromosome 16.

Diagnosis

Genetic testing for SCNN1B is available. Testing is considered confirmatory for diagnosis.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for pseudohypoaldosteronism, type IB2, autosomal recessive.

1 publication has been identified in PubMed for pseudohypoaldosteronism, type IB2, autosomal recessive. Research spans Case Report / Case Series (100%).

Recent Publications

Wang Z (2026). [PMID: 41457049](https://pubmed.ncbi.nlm.nih.gov/41457049/). *Mol Genet Genomic Med*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 9:02 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620125

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 IB2, autosomal recessive

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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