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MKS1-related ciliopathy

MONDO:1040068

Any ciliopathy caused by variants in the MKS1 gene.

Also known as: MKS1-related ciliopathy

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

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Sub-types

Meckel syndrome, type 1 (1) Bardet-Biedl syndrome 13 (0) Joubert syndrome 28 (0)

Broader categories

Disease (618) Hereditary disease (172) Human disease (14) Ciliopathy (2) Disease by molecular mechanism (2) Disease of genetic or genomic mechanism (2) Disease by developmental or physiological process (0) Disease by etiologic mechanism (0)
Trials to join now! 2 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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