NTR: RNA exosomopathy

[srengel]

Include:

• new disease terms or updates to DO's disease terms

there is a group of disorders termed 'RNA exosomopathies', which arise from pathogenic variants in RNA exosome genes

• include the term name in the title of the request
• It is helpful to include a definition and PubMed reference for new terms

PMID:39009343

possible definition (generic but this is a new class of disorders only now being figured out, so i expect that possible child terms will arise): Pathology arising from dysfunction of the RNA exosome and which cause tissue- or cell-specific consequences

• It is useful to share information on the relevant project

SGD uses DO to annotate yeast genes used to study human disease

• include contact information along with your ORCID id, so that we can provide attribution for your contribution

Thank you!
Stacia Engel
SGD yeastgenome.org
ORCID 0000-0001-5472-917X

[allenbaron]

Stacia, thanks for making a request. Can you clarify what additions to the DO you'd like to see as a result?

Would like us to add the grouping term 'RNA exosomopathy' and organization of these types of diseases under it, generally look for and add more EXOSC gene-caused diseases, or specifically add this disease linked to EXOSC4?

It looks like DO has a number of EXOSC gene-caused diseases that are primarily pontocererebellar hypoplasias.

Results from advanced search with definition = EXOSC

These diseases are caused by mutations in EXOSC genes 1-3 & 8-9.

_Notes to self: OMIM does not have a phenotypic entry related to EXOSC genes 4, 6-7, or 10. It does have one for EXOSC5 that is missing from the DO and needs to be added (MIM:619576](https://www.omim.org/entry/619576)).

[srengel]

Hi @allenbaron ! i'm thinking a top-level 'RNA exosomopathy', with child diseases under it. this specific EXOSC4 disease would be a child of 'RNA exosomopathy', but i would need your guidance on what to call the EXOSC4 disease.

i would be fine annotating to the generic 'RNA exosomopathy'.

[allenbaron]

With a background in molecular biology, it makes a lot of sense to me to group diseases by molecular pathways affected. These groupings currently exist only in an extremely limited fashion in DO, which has a more clinical focus.

@lschriml we've discussed adding other disease groupings based on molecular pathway recently (things similar to RASopathies). What are your thoughts on adding this grouping disease?

[allenbaron]

I informed OMIM of this new disease related to EXOSC4. I'm somewhat hesitant to name a disease without their input since clinicians tend to prefer OMIM names and it ends up creating extra synonyms, but OMIM has a slower curation cycle so we'll see. It's not likely this disease will be included in the next release scheduled to be out early next week.

[allenbaron]

Stacia, one of our goals this year is to identify and add molecular groupings. I've added RNA exosomopathies to our list, and we'll definitely get it added, but it will probably be a while as we work to identify a good way to model these.

We'll be out for the next week at conferences or on vacation but I'll try to get a disease term in for you for the next release.

[srengel]

Hi @allenbaron, oh that's awesome! thank you so much. hope you have good travels :)