Features include always present findings: Acanthocytosis, Red blood cell destruction (hemolytic anemia), Increased mean corpuscular hemoglobin concentration, and Bite cells and others; and common findings: Elevated platelet count (thrombocytosis). 12 total HPO annotations.

KCNN4 encodes potassium calcium-activated channel subfamily N member 4 (427 aa). Intermediate conductance calcium-activated potassium channel that mediates the voltage-independent transmembrane transfer of potassium across the cell membrane through a constitutive interaction with calmodulin which binds the intracellular calcium allowing its opening. Highest expression in Minor Salivary Gland (115.7 TPM) and Cells EBV-transformed lymphocytes (53.8 TPM).

Dehydrated hereditary stomatocytosis 2 is associated with mutations in the KCNN4 gene on chromosome 19.

KCNN4 is classified as a druggable target (Druggable Genome and Ion Channel categories) with score 34.8.

Genetic testing for KCNN4 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 7 always present features, 1 common feature.

No clinical trials have been registered for dehydrated hereditary stomatocytosis 2.

11 publications have been identified in PubMed for dehydrated hereditary stomatocytosis 2. Research spans Basic Science / Preclinical (45%), Review / Meta-Analysis (27%), and Case Report / Case Series (18%).