Features include always present findings: Global developmental delay; and very common findings: Intellectual disability, Posteriorly rotated ears, Delayed speech and language development, and Ptosis. 67 total HPO annotations.

MAPK1 encodes mitogen-activated protein kinase 1 (360 aa). Serine/threonine kinase which acts as an essential component of the MAP kinase signal transduction pathway. Highest expression in Brain Nucleus accumbens basal ganglia (62.5 TPM) and Brain Cerebellar Hemisphere (57.4 TPM).

Noonan syndrome 13 is associated with mutations in the MAPK1 gene on chromosome 22.

The MAPK1 protein participates in p-T185,Y187 MAPK1 P58G, p-T185,Y187 MAPK1 E81K, and p-T185,Y187 MAPK1 D321V pathways.

MAPK1 is classified as a druggable target (Clinically Actionable, Drug Resistance, Druggable Genome, Enzyme, Kinase, Serine Threonine Kinase, and Transcription Factor categories) with score 0.3.

Genetic testing for MAPK1 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 1 always present feature, 4 very common features, 10 common features.

No clinical trials have been registered for Noonan syndrome 13.

2 publications have been identified in PubMed for Noonan syndrome 13. Research spans Case Report / Case Series (50%) and Basic Science / Preclinical (50%).

Recent Publications

• Torres Robles J (2025). [PMID: 40015635](https://pubmed.ncbi.nlm.nih.gov/40015635/). *J Biol Chem*. [Basic Science / Preclinical]

• Tabassum S (2025). [PMID: 40257485](https://pubmed.ncbi.nlm.nih.gov/40257485/). *J Clin Immunol*. [Case Report / Case Series]