Request: Add a new term Colony Stimulating Factor-1 Receptor-Related Disorder or CSF1R-RD and merge the other that are now included on it

[galyea123]

The condition "Adult-onset leukoencephalopathy with axonal spheroid” or “ALSP” (MONDO:0800027) includes what was previously known as two separate disorders: hereditary diffuse leukoencephalopathy with spheroids (HDLS) and pigmentary orthochromatic leukodystrophy (POLD), because it it was found that these disorders were linked to CSF1R gene variants.

More recently, researchers found that another condition, BANDDOS (brain abnormalities, neurodegeneration, and dysosteosclerosis MONDO:0032772) also known as “early-onset calcifying leukoencephalopathy-skeletal dysplasia” (as per Orphanet) is also caused by CSFIR gene variants. Since these conditions have overlapping symptoms, experts now use the term CSF1R-related disorder (CSF1R-RD) to include all disorders caused by changes in CSF1R gene.

CSF1R-related disorder is classified in two subtypes based on when symptoms start:
• Early-onset CSF1R-related disorder (before age 18)
• Late-onset CSF1R-related disorder (age 18 or older)

Source: https://www.ncbi.nlm.nih.gov/books/NBK100239/

PS: I know that this is part of the broader discussion about gene-related disorders.

[nicolevasilevsky]

Hi @galyea123 - since OMIM has these as two separate terms, we like to follow what OMIM does, so we'd prefer to keep these as separate terms unless OMIM merges them.

We could create a new term that is 'CSF1R-related disorder' and add the terms above as subclasses, would that work?

It would look like this: