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Any progressive familial intrahepatic cholestasis in which the cause of the disease is a mutation in the TJP2 gene.
Features include always present findings: Liver scarring (cirrhosis) (cirrhosis), Intrahepatic cholestasis, and Hepatocellular carcinoma; and common findings: Hepatic failure. 5 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Digestive system | 4 | Hepatic failure, Liver scarring (cirrhosis) (cirrhosis), Intrahepatic cholestasis |
Heart and blood vessels | 1 | Portal hypertension |
TJP2 function has not been fully characterized.
Cholestasis, progressive familial intrahepatic, 4 is associated with mutations in the TJP2 gene on chromosome 9.
Genetic testing for TJP2 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for cholestasis, progressive familial intrahepatic, 4 has been reported in the published literature.
Phenotype severity distribution: 3 always present features, 1 common feature.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for cholestasis, progressive familial intrahepatic, 4.
39 publications have been identified in PubMed for cholestasis, progressive familial intrahepatic, 4. Research spans Case Report / Case Series (36%), Basic Science / Preclinical (36%), and Clinical Trial Publication (8%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 14 | 36% |
Laboratory research | 14 | 36% |
Clinical study results | 3 | 8% |
Disease patterns and progression | 3 | 8% |
Testing and diagnosis research | 2 | 5% |
New treatment approaches | 2 | 5% |
Research summaries | 1 | 3% |
Ramakrishna SH (2026). [PMID: 42238902](https://pubmed.ncbi.nlm.nih.gov/42238902/). *J Clin Exp Hepatol*. [Case Report / Case Series]
Latypov M (2026). [PMID: 41724238](https://pubmed.ncbi.nlm.nih.gov/41724238/). *Clinics and research in hepatology and gastroenterology*. [Basic Science / Preclinical]
Elkoofy NM (2026). [PMID: 40537152](https://pubmed.ncbi.nlm.nih.gov/40537152/). *Clinical genetics*. [Epidemiology / Natural History]
Cai B (2026). [PMID: 41598351](https://pubmed.ncbi.nlm.nih.gov/41598351/). *Journal of clinical medicine*. [Case Report / Case Series]
Latypov M (2026). [PMID: 41780879](https://pubmed.ncbi.nlm.nih.gov/41780879/). *Clinics and research in hepatology and gastroenterology*. [Case Report / Case Series]
Sakka R (2026). [PMID: 42224341](https://pubmed.ncbi.nlm.nih.gov/42224341/). *PLoS One*. [Review / Meta-Analysis]
Dong M (2026). [PMID: 42091197](https://pubmed.ncbi.nlm.nih.gov/42091197/). *Zhonghua Yi Xue Yi Chuan Xue Za Zhi*. [Case Report / Case Series]
Hasmee N (2026). [PMID: 42119236](https://pubmed.ncbi.nlm.nih.gov/42119236/). *J Pediatr Nurs*. [Case Report / Case Series]
Huimin Z (2025). [PMID: 41822262](https://pubmed.ncbi.nlm.nih.gov/41822262/). *Frontiers in gastroenterology (Lausanne, Switzerland)*. [Case Report / Case Series]
Yi S (2025). [PMID: 40454003](https://pubmed.ncbi.nlm.nih.gov/40454003/). *Gastro hep advances*. [Gene Therapy / Novel Therapeutics]
Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 1:58 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center