Features include always present findings: Hepatic steatosis, Severe short stature, Hyperplasia of midface, and Insulin resistance and others; and common findings: Retinal detachment. 27 total HPO annotations.

NSMCE2 encodes NSE2 SUMO ligase component of SMC5/6 complex (247 aa). E3 SUMO-protein ligase component of the SMC5-SMC6 complex, a complex involved in DNA double-strand break repair by homologous recombination. Is not be required for the stability of the complex. Highest expression in Cells EBV-transformed lymphocytes (19.4 TPM) and Artery Tibial (17.1 TPM).

Seckel syndrome 10 has been associated with mutations in the NSMCE2 gene on chromosome 8.

NSMCE2 is classified as a druggable target with score 0.0.

Genetic testing for NSMCE2 is available. Testing is considered supportive for diagnosis.

Biomarker and diagnostic research for Seckel syndrome 10 has been reported in the published literature.

Phenotype severity distribution: 6 always present features, 1 common feature.

No clinical trials have been registered for Seckel syndrome 10.

3 publications have been identified in PubMed for Seckel syndrome 10. Kisho has analyzed 2 by research type. Research spans Diagnostic / Biomarker (50%) and Case Report / Case Series (50%).

Recent Publications

• Cuinat S (2025). [PMID: 40114033](https://pubmed.ncbi.nlm.nih.gov/40114033/). *Eur J Hum Genet*. [Diagnostic / Biomarker]

• Jurca AD (2024). [PMID: 39597091](https://pubmed.ncbi.nlm.nih.gov/39597091/). *Medicina (Kaunas)*. [Case Report / Case Series]