Schwannomatosis (DOID:0111252 and DOID:3204)

[sbello]

OMIM has updated records related to Schwannomatosis and renamed several entries

OMIM:101000 | Neurofibromatosis, Type II; NF2 | Schwannomatosis, Vestibular; SWNV | DOID:0111252 | neurofibromatosis 2 (DO label) OMIM:162091 | Schwannomatosis 1; SWNTS1 | Schwannomatosis 1; SWN1 | DOID:3204 | neurofibromatosis 2 (DO label) OMIM:615670 | Schwannomatosis 2; SWNTS2 | Schwannomatosis 2; SWN2 | DOID:3204

Please review and revise the labels.

Also DOID:3204 needs a definition and child terms for the 2 different OMIM terms.

[allenbaron]

This is strongly related to #703 which remains open. I will re-review that ticket and include updates here for schwannomatosis, since they are now clearly delineated as distinct entities.

[allenbaron]

International consensus recently recommended that NF2 (DOID:0111252) and the two schwannomatosis subtypes be reclassified together as types of schwannomatosis (DOID:3204). Previously, schwannomatosis was a grouping term that excluded NF2, including only SWN1 & SWN2.

Plotkin SR, Messiaen L, Legius E, et al. Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation. Genet Med. 2022;24(9):1967-1977. doi:10.1016/j.gim.2022.05.007 PMID:35674741

While neurofibromas and schwannomas are similar they appear to be distinct entities and a stated goal of the international consensus in re-grouping these diseases was to prevent confusion of NF2/SWN with NF1 (neurofibromatosis). However, schwannomatosis (SWN1/2) has traditionally been described as a subtype of neurofibromatosis (DOID:8712, #703). I plan to split schwannomatosis from neurofibromatosis, each as a a child of syndrome with their respective subtypes (if any). An appropriate alternative would be to place schwannomatosis a child of neurofibromatosis.

Currently, DOID:3204 is named neurilemmomatosis, is a child of neurilemmoma (DOID:3192), and lacks a definition and subtypes as noted above by Sue.

One more note: Orphanet ~and SNOMED~* have switched to using neurofibromatosis/schwannomatosis (ORPHA:634518) and do not include the individual grouping diseases. I think this will likely perpetuate the conflation of NF1 with NF2/SWN and should be avoided.

*sorry just Orphanet has taken this approach, SNOMED hasn't updated schwannomatosis or neurofibromatosis to reflect the international recommendation yet.

[allenbaron]

Instead of syndrome, the parent of these terms will be changed to RASopathy (which is a child of syndrome).

Support for this update

• schwannomatosis (presumably corresponding to SWN1 & 2) and NF2 are listed as RASopathies at https://health.ucdavis.edu/mindinstitute/clinic/genomic-medicine/RASclinic.html
• LZTR1 is involved in the RAS signalling pathway and also causative in Noonan Syndrome 2 (DOID:0060580) & 10 (DOID:0060588), which are already classified as RASopathies in the DO; https://pubmed.ncbi.nlm.nih.gov/35103797
• NF2 is involved in the RAS signalling pathway, https://pubmed.ncbi.nlm.nih.gov/31312020/

I could not find any direct evidence for SMARCB1 but given the syndromic nature of RASopathies, the SWN overlapping phenotypes, and the support listed here, I think it makes sense to include them all.