Phenotypes associated with the disease cryptosporidiosis-chronic cholangitis-liver disease syndrome (OMIM:615207):
- Recurrent infection of the gastrointestinal tract (HP:0004798): Recurrent infection of the gastrointestinal tract. Evidence: PCS. Frequency: 4/4. (PMID:23440042)
- Hepatic failure (HP:0001399). Evidence: PCS. Frequency: 1/4. (PMID:23440042)
- Bronchiectasis (HP:0002110): Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways. Evidence: PCS. Frequency: 2/5. (PMID:23440042;PMID:25398835)
- Cirrhosis (HP:0001394): A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function. Evidence: PCS. Frequency: 1/4. (PMID:23440042)
- Recurrent sinusitis (HP:0011108): A recurrent form of sinusitis. Evidence: PCS. Frequency: 1/4. (PMID:23440042)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: PCS. Frequency: 1/4. (PMID:23440042)
- Recurrent infections (HP:0002719): Increased susceptibility to infections as manifested by repeated bouts of infection. Evidence: PCS. Frequency: 4/4. (PMID:23440042)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 4/4. (PMID:23440042)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:23440042)
- Chronic hepatitis due to cryptosporidium infection (HP:0200124): Chronic hepatitis caused by Cryptosporidium infection that occurs in the context of unusual susceptibility to infection. Evidence: PCS. Frequency: 4/4. (PMID:23440042)
- Recurrent otitis media (HP:0000403): Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media. Evidence: PCS. Frequency: 1/1. (PMID:25398835)
- Cholangitis (HP:0030151): Inflammation of the biliary ductal system, affecting the intrahepatic or extrahepatic portions, or both. Evidence: PCS. Frequency: 4/4. (PMID:23440042)
- Recurrent pneumonia (HP:0006532): An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia. Evidence: PCS. Frequency: 4/4. (PMID:23440042)
- Pneumocystis jirovecii pneumonia (HP:0020102): An opportunistic disease caused by invasion of unicellular fungus Pneumocystis jirovecii. Transmission of P. jirovecii cysts takes place through the airborne route, and usually, its presence in lungs is asymptomatic. However, people with impaired immunity, especially those with CD4+ T cell count below 200/microliter, are still at risk of the development of Pneumocystis pneumonia due to P. jirovecii invasion. Symptoms induced by this disease are not specific: progressive dyspnea, non-productive cough, low-grade fever, arterial partial pressure of oxygen below 65 mmHg, and chest radiographs demonstrating bilateral, interstitial shadowing. Evidence: PCS. Frequency: 1/1. (PMID:25398835)
- Recurrent respiratory infections (HP:0002205): An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections. Evidence: PCS. Frequency: 5/5. (PMID:23440042;PMID:25398835)
- Chronic diarrhea (HP:0002028): The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks. Evidence: PCS. Frequency: 2/4. (PMID:23440042)
- Immunodeficiency (HP:0002721): Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance. Evidence: PCS. (PMID:23440042)
- Panhypogammaglobulinemia (HP:0003139): A reduction in the circulating levels of all the major classes of immunoglobulin. is characterized by profound decreases in all classes of immunoglobulin with an absence of circulating B lymphocytes. Evidence: PCS. Frequency: 1/1. (PMID:25398835)