Cure My Disease

Don't miss your cure!

 Log in / Sign up

POLR3-related leukodystrophy

MONDO:0700282

Hypomyelinating leukodystrophy disorder in which is caused of the disease is a variation in any of the genes encoding POLR3 (RNA polymerase III) subunits, including POLR3A, POLR3B and POLR1C. This disorder is characterized by the association of dental abnormalities (delayed dentition, abnormal order of dentition, hypodontia), hypogonadotropic hypogonadism, and hypomyelinating leukodystrophy manifesting with neurodevelopmental delay or regression and/or progressive cerebellar symptoms.

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

Follow this condition — get notified about new trials

Sub-types

Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (2) Hypomyelinating leukodystrophy 11 (0) Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism (0) Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome (0) Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome (0) Leukodystrophy, hypomyelinating, 21 (0) Odontoleukodystrophy (0) Tremor-ataxia-central hypomyelination syndrome (0)

Broader categories

Disease (618) Nervous system disorder (217) Hereditary disease (172) Neurodegenerative disease (155) Central nervous system disorder (97) Human disease (14) Inherited neurodegenerative disorder (10) Hereditary neurological disease (5) Leukodystrophy (5) Disease of genetic or genomic mechanism (2)
Trials to join now! 7 Not yet recruiting 1 Not yet finished but already full! 2 Completed 6
Sort by