Features include always present findings: Elevated circulating aspartate aminotransferase concentration, Hepatic failure, Liver scarring (cirrhosis) (cirrhosis), and Elevated circulating alanine aminotransferase concentration and others; and common findings: Failure to thrive, Hyperammonemia, Hypoglycemia, and Jaundice. 14 total HPO annotations.

NR1H4 encodes nuclear receptor subfamily 1 group H member 4 (486 aa). Ligand-activated transcription factor. Receptor for bile acids (BAs) such as chenodeoxycholic acid (CDCA), lithocholic acid, deoxycholic acid (DCA) and allocholic acid (ACA). Highest expression in Liver (39.1 TPM) and Adrenal Gland (22.9 TPM).

Cholestasis, progressive familial intrahepatic, 5 is associated with mutations in the NR1H4 gene on chromosome 12.

The NR1H4 protein participates in SUMOylation of NR1H4 with SUMO1 pathway.

NR1H4 is classified as a druggable target (Druggable Genome, Kinase, Nuclear Hormone Receptor, and Transcription Factor categories) with score 2.6.

Genetic testing for NR1H4 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for cholestasis, progressive familial intrahepatic, 5 has been reported in the published literature.

Phenotype severity distribution: 7 always present features, 4 common features.

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

No clinical trials have been registered for cholestasis, progressive familial intrahepatic, 5.

61 publications have been identified in PubMed for cholestasis, progressive familial intrahepatic, 5. Research spans Case Report / Case Series (28%), Basic Science / Preclinical (28%), and Clinical Trial Publication (13%).