Features include always present findings: Hepatic steatosis, Short stature, Decreased muscle mass, and Generalized hypotonia and others.

FARSA encodes phenylalanyl-tRNA synthetase subunit alpha (508 aa). Highest expression in Cells EBV-transformed lymphocytes (109.8 TPM) and Cells Cultured fibroblasts (73.5 TPM).

Rajab interstitial lung disease with brain calcifications 2 is associated with mutations in the FARSA gene on chromosome 19.

FARSA is classified as a druggable target (Enzyme category) with score 0.0.

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

Phenotype severity distribution: 25 always present features.

No clinical trials have been registered for Rajab interstitial lung disease with brain calcifications 2.

3 publications have been identified in PubMed for Rajab interstitial lung disease with brain calcifications 2. Research spans Other (33%), Case Report / Case Series (33%), and Basic Science / Preclinical (33%).

Recent Publications

• El-Karaksy H (2025). [PMID: 41165782](https://pubmed.ncbi.nlm.nih.gov/41165782/). *Hum Genet*. [Basic Science / Preclinical]

• Aelvoet Y (2025). [PMID: 40191063](https://pubmed.ncbi.nlm.nih.gov/40191063/). *JIMD Rep*. [Case Report / Case Series]

• Xu Y (2024). [PMID: 39185634](https://pubmed.ncbi.nlm.nih.gov/39185634/). *Pediatr Pulmonol*. [Other]