Features include always present findings: Recurrent infection of the gastrointestinal tract, Recurrent infections, Chronic hepatitis due to cryptosporidium infection, and Recurrent otitis media and others; and common findings: Bronchiectasis and Chronic diarrhea. 16 total HPO annotations.

IL21R encodes interleukin 21 receptor (538 aa). This is a receptor for interleukin-21 Highest expression in Cells EBV-transformed lymphocytes (65.8 TPM) and Spleen (4.8 TPM).

Cryptosporidiosis-chronic cholangitis-liver disease syndrome is associated with mutations in the IL21R gene on chromosome 16.

The IL21R protein participates in Interleukin-21 signaling pathway.

IL21R is classified as a druggable target (Clinically Actionable, Druggable Genome, and External Side Of Plasma Membrane categories) with score 17.4.

Genetic testing for IL21R is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for cryptosporidiosis-chronic cholangitis-liver disease syndrome has been reported in the published literature.

Phenotype severity distribution: 9 always present features, 2 common features.

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

No clinical trials have been registered for cryptosporidiosis-chronic cholangitis-liver disease syndrome.

142 publications have been identified in PubMed for cryptosporidiosis-chronic cholangitis-liver disease syndrome. Research spans Epidemiology / Natural History (43%), Review / Meta-Analysis (18%), and Clinical Trial Publication (13%).