MONDO_0019523 Walker-Warburg syndrome

[nicolevasilevsky]

cc @maglott

I think MONDO_0019523 Walker-Warburg syndrome is equivalent to OMIM:236670 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1; MDDGA1 and we should add the other synonyms from OMIM

[nicolevasilevsky]

@maglott

I think MONDO_0000171 muscular dystrophy-dystroglycanopathy, type A and MONDO_0019523 | Walker-Warburg syndrome

are distinct classes though

[nicolevasilevsky]

see spreadsheet

[kanems]

@nicolevasilevsky Following up on this... can we check with the OMIM team to get some clarification on whether WWS and MDDGA type are equivalent terms? Looking at the existing hierarchy/tree of children to MDDG type A MONDO:0000171, they all seem to be subtypes that match to the same Children of WWS MONDO:0019523.

[nicolevasilevsky]

@ahamosh could you please give us some advice on this? Thank you!

[ahamosh]

MDDGAs are WWS. The number after MDDGA is which gene. The MDDGBs are congenital muscular dystrophies with or without ID. The MDDGCs are later-onset limb-girdle muscular dystrophies. We lumped WWS and Muscle-Eye-Brain because the outcome difference largely depends upon medical intervention or lack thereof...

[nicolevasilevsky]

Thanks @ahamosh!

@kanems yes, the MDDG type A terms are children of both MDDG type A MONDO:0000171 and WWS MONDO:0019523.

@ahamosh or @kanems, are we missing a relationship between WWS and MDDG? Should MDDG type A be a subclass of WWS MONDO:0019523?

Thanks!

[ahamosh]

So I tried to look at this as graphs and trees and now I am confused. As far as I can tell MONDO:0019523 is a generic WWS, which would be a generics MDDGA in OMIM, except that we don't have generics. MDDGA1-13 are each of the WWS by gene. We discuss the genetic heterogeneity in MIM:236670. We also have them organized in a phenotypic series. If this still isn't clear it might require a brief conversation where you explain the hierarchies and I can try to figure this out.

[nicolevasilevsky]

this is confusing! I drew a picture

[ahamosh]

Yes!
Ada

[nicolevasilevsky]

@galyea-gard - FYI I merged MONDO:0019523 WWS and MONDO:0000171 MDDG type A

[galyea-gard]

Hi Nicole! I apologize that I did not see your message before. We will still keep it in GARD because it is still used in the medical literature, but I will add it to the list for terms to review. While I believe you are right merging the terms MONDO:0019523 WWS and MONDO:0000171 MDDG type A I think that OMIM 236670 is not equivalent but a subtype of MDDG type A. As commented, WWS can be caused by several different genes (hence the number after A, indicates the specific gene). Please see phenotypic table: https://www.omim.org/phenotypicSeries/PS236670
Thank you! Gioconda

[nicolevasilevsky]

Yes, we have OMIM 236670 represented as a subtype of MDDG type A (it is equivalent to MONDO_0009364 'muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1').

Thanks for the feedback @galyea-gard!

[ahamosh]

Hi Nicole,
I think that the PS236670 (the whole series) is the overall matching of the overall WWA and MDDGA. MDDGA1 is WWS1 or MDDGA1, which are equivalent.

[nicolevasilevsky]

Yes, it's now like this:

[ahamosh]

Perfect!