Features include always present findings: Delayed speech and language development; and very common findings: Hypertelorism, Thin upper lip vermilion, Downslanted palpebral fissures, and Wide nasal bridge. 24 total HPO annotations.

KCNMA1 encodes potassium calcium-activated channel subfamily M alpha 1 (1,236 aa). Potassium channel activated by both membrane depolarization or increase in cytosolic Ca(2+) that mediates export of K(+). It is also activated by the concentration of cytosolic Mg(2+). Highest expression in Uterus (43.8 TPM) and Colon Sigmoid (36.4 TPM).

Liang-Wang syndrome is associated with mutations in the KCNMA1 gene on chromosome 10.

The KCNMA1 protein participates in KCNMA1:KCNMB1:LRRC52 transports K+ from the cytosol to the extracellular region, KCNMA1:KCNMB1 transports potassium ions from the cytosol to the extracellular region, and CHRNA9:CHRNA10:AcCho transports Ca2+ from the extracellular region to the cytosol pathways.

KCNMA1 is classified as a druggable target (Druggable Genome and Ion Channel categories) with score 5.8.

Genetic testing for KCNMA1 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 1 always present feature, 4 very common features, 11 common features.

No clinical trials have been registered for Liang-Wang syndrome.

2 publications have been identified in PubMed for Liang-Wang syndrome. Research spans Other (50%) and Basic Science / Preclinical (50%).

Recent Publications

• Huang Y (2025). [PMID: 40167379](https://pubmed.ncbi.nlm.nih.gov/40167379/). *Acta physiologica (Oxford, England)*. [Basic Science / Preclinical]

• Roze E (2025). [PMID: 39620351](https://pubmed.ncbi.nlm.nih.gov/39620351/). *Mov Disord Clin Pract*. [Other]