Senior-Boichis syndrome
Findings
No curated finding names Senior-Boichis syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0019394), read 2026-09-29. CC BY 4.0.
Features
34 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal renal interstitial morphologyHPOHP:0032581
- Frequent (30% to 79% of cases)
- Abnormal urinary electrolyte concentrationHPOHP:0012591
- Frequent (30% to 79% of cases)
- CholestasisHPOHP:0001396
- Frequent (30% to 79% of cases)
- Chronic kidney diseaseHPOHP:0012622
- Frequent (30% to 79% of cases)
- Elevated circulating alkaline phosphatase concentrationHPOHP:0003155
- Frequent (30% to 79% of cases)
- Elevated circulating hepatic transaminase concentrationHPOHP:0002910
- Frequent (30% to 79% of cases)
Show the remaining 22
- PolydipsiaHPOHP:0001959
- Frequent (30% to 79% of cases)
- Portal hypertensionHPOHP:0001409
- Frequent (30% to 79% of cases)
- Reduced number of intrahepatic bile ductsHPOHP:0006571
- Frequent (30% to 79% of cases)
- Reduced renal corticomedullary differentiationHPOHP:0005565
- Frequent (30% to 79% of cases)
- Renal corticomedullary cystsHPOHP:0000108
- Frequent (30% to 79% of cases)
- Renal hypoplasiaHPOHP:0000089
- Frequent (30% to 79% of cases)
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
Where it sits
- A kind of
- Narrower terms (1)
Other names
2 names
Resolves to: Senior-Boichis syndrome
- Also called
- Boichis diseasenephronophthisis-hepatic fibrosis syndrome