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Boichis syndrome consists of the association of congenital nephronophthisis leading to renal failure, and hepatic fibrosis. It has been described in five members of one family, two of whom died from renal failure. The association of Boichis syndrome with tapetoretinal degeneration and intellectual deficit has also been reported in one family: the so-called Senior-Boichis syndrome could be in fact the same entity, and was later reported in a 12 year-old child.
Features include common findings: Renal hypoplasia, Renal corticomedullary cysts, Hypertension, and Liver scarring (fibrosis) (hepatic fibrosis) and others; and sometimes findings: Agitation, Aggressive behavior, Liver scarring (cirrhosis) (cirrhosis), and Ascites and others.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Kidneys and urinary system | 11 | Renal hypoplasia, Renal corticomedullary cysts, Hyperechogenic kidneys |
Biomarker and diagnostic research for Senior-Boichis syndrome has been reported in the published literature.
Phenotype severity distribution: 20 common features.
Estimated prevalence: Unknown (Unknown prevalence).
No clinical trials have been registered for Senior-Boichis syndrome.
131 publications have been identified in PubMed for Senior-Boichis syndrome. Research spans Review / Meta-Analysis (40%), Basic Science / Preclinical (37%), and Epidemiology / Natural History (14%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 52 | 40% |
Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 12:51 AM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about Senior-Boichis syndrome
Digestive system | 9 | Liver scarring (fibrosis) (hepatic fibrosis), Cholestasis, Hepatosplenomegaly |
Brain and nerves | 5 | Agitation, Aggressive behavior, Abnormal brain white matter (abnormal cerebral white matter morphology) |
Heart and blood vessels | 2 | Hypertension, Portal hypertension |
Lab test results | 2 | Elevated circulating hepatic transaminase concentration, Elevated circulating alkaline phosphatase concentration |
Muscles | 2 | Diffuse cerebral atrophy, Renal atrophy |
Blood and immune system | 1 | Low red blood cell count (anemia) |
Pregnancy and birth | 1 | Congenital hepatic fibrosis |
Age of onset: adolescence.
48 |
37% |
Disease patterns and progression | 18 | 14% |
Testing and diagnosis research | 5 | 4% |
Clinical study results | 3 | 2% |
New treatment approaches | 3 | 2% |
Patient case studies | 2 | 2% |
Li J (2026). [PMID: 40560677](https://pubmed.ncbi.nlm.nih.gov/40560677/). *Hepatology*. [Epidemiology / Natural History]
Muriel P (2026). [PMID: 41898408](https://pubmed.ncbi.nlm.nih.gov/41898408/). *International journal of molecular sciences*. [Review / Meta-Analysis]
Kim HY (2026). [PMID: 41746718](https://pubmed.ncbi.nlm.nih.gov/41746718/). *J Clin Invest*. [Basic Science / Preclinical]
Pezet MG (2026). [PMID: 39994483](https://pubmed.ncbi.nlm.nih.gov/39994483/). *Nature biotechnology*. [Epidemiology / Natural History]
Flerlage T (2026). [PMID: 41072037](https://pubmed.ncbi.nlm.nih.gov/41072037/). *Am J Respir Cell Mol Biol*. [Epidemiology / Natural History]
Xuan L (2026). [PMID: 41707030](https://pubmed.ncbi.nlm.nih.gov/41707030/). *Cell Biochem Funct*. [Review / Meta-Analysis]
Tian N (2026). [PMID: 40746017](https://pubmed.ncbi.nlm.nih.gov/40746017/). *Alimentary pharmacology & therapeutics*. [Epidemiology / Natural History]
Edepli BG (2026). [PMID: 41296685](https://pubmed.ncbi.nlm.nih.gov/41296685/). *Molecular human reproduction*. [Review / Meta-Analysis]
Zhang W (2026). [PMID: 41588833](https://pubmed.ncbi.nlm.nih.gov/41588833/). *Ann Med*. [Review / Meta-Analysis]
Tilg H (2026). [PMID: 41212550](https://pubmed.ncbi.nlm.nih.gov/41212550/). *JAMA*. [Review / Meta-Analysis]