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Bardet-Biedl syndrome 17

MONDO:0014445

Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the LZTFL1 gene.

Also known as: BBS17, Bardet-Biedl syndrome 17, Bardet-Biedl syndrome caused by mutation in LZTFL1, Bardet-Biedl syndrome type 17, LZTFL1 Bardet-Biedl syndrome

2 clinical trials for this condition and its sub-types.

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Broader categories

Disease (618) Hereditary disease (172) Syndromic disease (24) Human disease (14) Bardet-Biedl syndrome (6) Autosomal recessive disease (4) Ciliopathy (2) Disease by molecular mechanism (2) Disease of genetic or genomic mechanism (2) Autosomal genetic disease (0)

Trials to join now! 1 Completed 1

Scientists hunt for drug targets in rare kidney disorder

Knowledge-focused Recruiting now

This study looks at the genetic causes of nephronophthisis, a rare kidney disease that leads to kidney failure before age 20. Researchers will collect urine and blood samples from 310 patients and healthy relatives to study cells and identify potential drug targets. The goal is t…

Phase: NA • Sponsor: Imagine Institute • Aim: Knowledge-focused

Last updated Jun 26, 2026 14:13 UTC

Bardet-Biedl syndrome 17

Broader categories

Scientists hunt for drug targets in rare kidney disorder