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CSF1R-related disorder

MONDO:0100632

Any disease in which the cause of the disease is a variation in the CSF1R gene.

Also known as: CSF1R-RD, colony stimulating factor-1 receptor-related disorder

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

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Sub-types

Leukoencephalopathy, diffuse hereditary, with spheroids 1 (6) Brain abnormalities, neurodegeneration, and dysosteosclerosis (0)

Broader categories

Disease (618) Hereditary disease (172) Human disease (14) Disease of genetic or genomic mechanism (2) Disease by etiologic mechanism (0)

Trials to join now! 3 Not yet finished but already full! 2 Completed 1

Could a single DNA test solve the mystery of rare brain diseases in kids?

Knowledge-focused Completed

This study looked at whether whole genome sequencing (a complete read of a person's DNA) can help diagnose leukodystrophies, a group of rare brain diseases that are hard to identify. Researchers enrolled 236 children with white matter abnormalities on brain scans but no known gen…

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

Last updated Jun 27, 2026 07:56 UTC