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familial pseudohyperkalemia (PSHK2) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

familial pseudohyperkalemia

MONDO:0012204

Also known as:PSHK2pseudohyperkalemia, familial, 2, due to red cell leakcryohydrocytosis, mild

Overview

An inherited, mild, non-hemolytic subtype of hereditary stomatocytosis that is associated with a temperature-dependent anomaly in red cell membrane permeability to potassium that leads to high in vitro potassium levels in samples stored below 37°C. FP is not associated with additional hematological abnormalities, although affected individuals may show some mild abnormalities like macrocytosis.

GeneticsAutosomal dominant · ABCB6 (chr 2)

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: Hand tremor, Generalized muscle weakness, Hyperkalemia, and Muscle spasm and 2 more.

Organ System	Phenotype Count	Example Features
Muscles	2	Generalized muscle weakness, Muscle spasm
Brain and nerves

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

ABCB6 encodes ATP binding cassette subfamily B member 6 (LAN blood group) (842 aa). ATP-dependent transporter that catalyzes the transport of a broad-spectrum of porphyrins from the cytoplasm to the extracellular space through the plasma membrane or into the vesicle lumen. Highest expression in Testis (101.0 TPM) and Ovary (98.5 TPM).

Familial pseudohyperkalemia is associated with mutations in the ABCB6 gene on chromosome 2.

The ABCB6 protein participates in Defective ABCB6 causes MCOPCB7, ABCB6 transports porphyrin from cytosol to mitchondrial matrix, and Defective ABCB6 does not transport porphyrin from cytosol into mitochondria matrix pathways.

ABCB6 is classified as a druggable target (Abc Transporter, Druggable Genome, and Transporter categories) with score 0.0.

16 pathogenic variants reported in ABCB6 in ClinVar, including hotspot variants 1284646 and 68473.

Diagnosis

Genetic testing for ABCB6 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Estimated prevalence: Unknown (Unknown prevalence).

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 familial pseudohyperkalemia.

1 publication has been identified in PubMed for familial pseudohyperkalemia. Research spans Case Report / Case Series (100%).

Recent Publications

Takaki R (2025). [PMID: 38896354](https://pubmed.ncbi.nlm.nih.gov/38896354/). *CEN Case Rep*. [Case Report / Case Series]

Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 1:04 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:609153

Orphanet

European rare disease database

Orphanet:90044

GARD

Genetic and Rare Diseases Info Center

GARD:16785

Questions for Your Care Team

→Should I pursue genetic testing for ABCB6, and what would the results mean for my family?
→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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familial pseudohyperkalemia

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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