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OFD1-related ciliopathy

MONDO:1040039

Any ciliopathy caused by monoallelic, biallelic, or hemizygous variants in the OFD1 gene. This disease is characterized by a broad range of phenotypes including Joubert syndrome, orofaciodigital syndrome, retinitis pigmentosa, and primary ciliary dyskinesia.

Also known as: OFD1-related ciliopathy

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

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Sub-types

Orofaciodigital syndrome I (1) Joubert syndrome 10 (0) Retinitis pigmentosa 23 (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

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