Features include always present findings: Decreased liver function, Small scrotum, Short stature, and Seizure and others; and very common findings: Cerebral calcification. 63 total HPO annotations.

FARSB encodes phenylalanyl-tRNA synthetase subunit beta (589 aa). Highest expression in Cells EBV-transformed lymphocytes (63.9 TPM) and Cells Cultured fibroblasts (58.2 TPM).

Rajab interstitial lung disease with brain calcifications 1 is associated with mutations in the FARSB gene on chromosome 2.

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

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

Phenotype severity distribution: 50 always present features, 1 very common feature, 8 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for Rajab interstitial lung disease with brain calcifications 1.

1 publication has been identified in PubMed for Rajab interstitial lung disease with brain calcifications 1. Research spans Case Report / Case Series (100%).

Recent Publications

• Nyenga AM (2024). [PMID: 38952481](https://pubmed.ncbi.nlm.nih.gov/38952481/). *Int Med Case Rep J*. [Case Report / Case Series]