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POLR3A-related disorder

MONDO:0700276

Disorder in which the cause of disease is a variation in the POLR3A gene.

2 clinical trials for this condition and its sub-types, 0 tagged with POLR3A-related disorder itself.

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Where it sits in the disease tree

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Part of

↑ Hereditary disease (18187)

Sub-types of POLR3A-related disorder

Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism 2 trials
4 sub-types
- Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome 0 trials
- Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome 0 trials
- Odontoleukodystrophy 0 trials
- Tremor-ataxia-central hypomyelination syndrome 0 trials
Wiedemann-Rautenstrauch syndrome 0 trials

Including sub-types (2) Tagged with POLR3A-related disorder (0)

Trials to join now! 1 Completed 1

Massive leukodystrophy biobank aims to unlock disease secrets

Knowledge-focused Recruiting now

This study collects medical information and biological samples (like blood or tissue) from up to 12,000 people with leukodystrophies—rare disorders that damage the brain's white matter. Researchers will use this data to find new genetic causes, develop biomarkers for future trial…

Sponsor: Children's Hospital of Philadelphia • Aim: Knowledge-focused

Last updated Jun 27, 2026 07:55 UTC