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Bardet-Biedl syndrome 13

MONDO:0014441

Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the MKS1 gene.

Also known as: BBS13, Bardet-Biedl syndrome 13, Bardet-Biedl syndrome caused by mutation in MKS1, Bardet-Biedl syndrome type 13, MKS1 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
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  • Scientists hunt for early warning signs of kidney failure in rare genetic diseases

    Knowledge-focused Completed

    This completed study collected blood and urine samples from 240 people with ciliopathies—rare genetic disorders that often lead to kidney failure. Researchers analyzed these samples to find biological markers that could predict how the disease will progress. The goal is to develo…

    Phase: NA • Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Knowledge-focused

    Last updated Jun 27, 2026 12:29 UTC

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