monarch-initiative/mondo

POLR3A-related Disorders - new parent term

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schmidtj1 commented

Name: POLR3A-related Disorders

Child Terms:
The following Mondo/ORDO Terms should fall under POLR3A-related Disorders as child terms

  • Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome (MONDO:0011897)
  • hypomyelinating leukodystrophy 7 (no MondoID; DOID:0060794)
  • 4H leukodystrophy (no MondoID; ORDO:289494)
  • Tremor-ataxia-central hypomyelination (TACH) syndrome (no MondoID; ORDO:447896)
  • Wiedemann-Rautenstrauch syndrome (MONDO:0009910)

Definition: Any disorder in which the cause of disease is due to a variant in the POLR3A gene

sabrinatoro commented

@schmidtj1 Thank you for your request. Please see below some comments

  1. I created a new term: "POLR3A-related disorder"
    -child of 'hereditary disease' (MONDO:0003847). Please let me know if you think a more specific parent would be appropriate.
    -Definition: "Disorder in which the cause of disease is a variation in the POLR3A gene.

  2. The following requested child should not be a child of "POLR3A-related disorder": 4H leukodystrophy (ORDO:289494)
    This term is also called "POLR-related leukodystrophy". This disease is caused by variation(s) in any of the genes encoding POLR3 (RNA polymerase III) subunits, including POLR3A, POLR3B and POLR1C.
    Therefore this disease is not specific to the POLR3A gene and therefore cannot be made a child of POLR3A-related disorder.

  3. The following requested children are already in Mondo:
    -hypomyelinating leukodystrophy 7 (DOID:0060794): MONDO:0011897
    -Tremor-ataxia-central hypomyelination (TACH) syndrome (ORDO:447896): MONDO:0011897

schmidtj1 commented
sabrinatoro commented

Hi @schmidtj1 These new terms will be available after the next Mondo release. It is scheduled for October 1st, 2024, and should be available on OLS a few days later.

Regarding 4H leukodystrophy (ORDO:289494) - POLR3-Related Leukodystrophy
I suggest that I create a new term for this term. This term would be a parent term covering leukodystrophy caused by POLR3A, POLR3B and POLR1C.

I want to bring your attention to the fact that this term would be for "leukodystrophy" only, therefore only the leukodystrophies caused by any of the 3 genes above would be under this term.
The terms I created (POLR3A-related disorder, POLR3B-related disorder, POLR1C-related disorder) are for "any disease/disorder" caused by a variation in the gene. If these terms need to be more specific to "leukodystrophies", I can make that change (but I should do it before the October 1st release).

For convenience, here are the questions for which I need answers :-)

  1. Are ALL POLR3A-related disorder, POLR3B-related disorder, and POLR1C-related disorder leukodystrophies? (ie are all diseases caused by these genes leukodystrophies)?
  2. if some diseases are not leukodystrophies, please list which one are.

Thank you!

Note: this is what the classification would look like (note, to avoid confusion, i would suggest changing the name to POLR3A-related leukodystrophy (same for the POLR3B and POLR1C related disease)

Image

schmidtj1 commented
sabrinatoro commented

Hi @schmidtj1
I want to make sure that these terms are correct before they are released to the public, and therefore I am following up on this (though I understand you might still be waiting to hear from your colleagues).

Were the terms you originally requested (POLR3A-related disorder, POLR3B-related disorder, and POLR1C-related disorder) aimed to refer to leukodystrophies? If so, I can update these terms and make them leukodystrophy.

It will be easier to make these terms more general later if needed (and much more complicated to make them more specific).
Thank you !
Sabrina

schmidtj1 commented
sabrinatoro commented

Thank you, Johanna.
This is extremely helpful, and I think we already have as you need.

  • 'POLR1C-related disorder' (MONDO:0700278): any disorder (leukodystrophy or not) in which the cause of the disease is POLR1C
  • 'POLR3B-related disorder' (MONDO:0700277): any disorder (leukodystrophy or not) in which the cause of the disease is POLR3B
  • 'POLR3A-related disorder' (MONDO:0700276): any disorder (leukodystrophy or not) in which the cause of the disease is POLR3A

I will reinstate the term: 4H leukodystrophy (ORDO:289494) - POLR3-Related Leukodystrophy
It will be defined as any leukodystrophy caused by POLR3A, POLR3B or POLR1C

Any diseases that are leukodystrophy AND caused by either POLR3A, POLR3B or POLR1C will have 2 ontological parents: (1) 'POLR1C-related disorder' or 'POLR3B-related disorder' or 'POLR3A-related disorder', (2) 'POLR3-Related Leukodystrophy'

schmidtj1 commented