Features include always present findings: Smooth philtrum, High anterior hairline, Broad forehead, and Thin upper lip vermilion and others; and very common findings: Osteolytic defects of the phalanges of the hand, Thickened calvaria, Mild bone density loss (osteopenia), and Short dental root and others. 48 total HPO annotations.

IFIH1 encodes interferon induced with helicase C domain 1 (1,025 aa). Innate immune receptor which acts as a cytoplasmic sensor of viral nucleic acids and plays a major role in sensing viral infection and in the activation of a cascade of antiviral responses including the induction of type I interferons and pro-inflammatory cytokines. Highest expression in Cells EBV-transformed lymphocytes (87.0 TPM) and Spleen (15.9 TPM).

Singleton-Merten syndrome 1 is associated with mutations in the IFIH1 gene on chromosome 2.

The IFIH1 protein participates in N interacts with IFIH1, NLRC5 interacts with DDX58/IFIH1, and Negative regulation of DDX58/IFIH1 signaling by RNF216 pathways.

IFIH1 is classified as a druggable target (Enzyme and Kinase categories) with score 0.0.

Genetic testing for IFIH1 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 5 always present features, 6 very common features, 2 common features.

No clinical trials have been registered for Singleton-Merten syndrome 1.

5 publications have been identified in PubMed for Singleton-Merten syndrome 1. Research spans Case Report / Case Series (80%) and Other (20%).

Recent Publications

• Arshad H (2026). [PMID: 41536870](https://pubmed.ncbi.nlm.nih.gov/41536870/). *Radiol Case Rep*. [Case Report / Case Series]

• Beerepoot S (2025). [PMID: 40176112](https://pubmed.ncbi.nlm.nih.gov/40176112/). *Orphanet J Rare Dis*. [Case Report / Case Series]

• Pervunina TM (2025). [PMID: 40406050](https://pubmed.ncbi.nlm.nih.gov/40406050/). *Front Cardiovasc Med*. [Case Report / Case Series]

• Yamazaki S (2025). [PMID: 40116369](https://pubmed.ncbi.nlm.nih.gov/40116369/). *Immunol Med*. [Case Report / Case Series]

• Najm R (2024). [PMID: 38757311](https://pubmed.ncbi.nlm.nih.gov/38757311/). *Scand J Immunol*. [Other]