organization of muscular dystrophy-dystroglycanopathy

[sbello]

Working on splitting out DOID:0050560 (Walker-Warburg syndrome) and DOID:0050588 (muscular dystrophy-dystroglycanopathy) The OMIM IDs xref'ed to these DOIDs and to Fukuyama congenital muscular dystrophy (DOID:0050559) are all part of the same OMIM series https://www.omim.org/phenotypicSeries/PS236670 (type A) DOID:0050588 also has OMIM xrefs from the series https://www.omim.org/phenotypicSeries/PS613155 (type B) and https://www.omim.org/phenotypicSeries/PS609308 (type c)

I think we need to reorganize this branch to have:

*muscular dystrophy-dystroglycanopathy (DOID:0050588) **muscular dystrophy-dystroglycanopathy type A (new) ***Fukuyama congenital muscular dystrophy (DOID:0050559) ***other type As ***Walker-Warburg syndrome ***muscle-eye-brain disease **muscular dystrophy-dystroglycanopathy type B ***muscular dystrophy-dystroglycanopathy type B5 (DOID:0110635) ***muscular dystrophy-dystroglycanopathy type B6 (DOID:0110637) ***other type Bs **muscular dystrophy-dystroglycanopathy type C ***other type Cs

Note Orphanet cross-references to OMIM include references to included entities so these will need to be checked.

Creating this ticket to capture thoughts and notes as I work through this

[sbello]

References: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5006267/ https://www.ncbi.nlm.nih.gov/pubmed/18646561 https://www.ncbi.nlm.nih.gov/pubmed/17878207 https://www.ncbi.nlm.nih.gov/pubmed/29067961

From OMIM: The limb-girdle phenotype is characterized by onset of muscular weakness apparent after ambulation is achieved; mental retardation and mild brain anomalies are variable (Balci et al., 2005; review by Godfrey et al., 2007). The most severe end of the phenotypic spectrum of dystroglycanopathies is represented by congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A; see MDDGA1, 236670), previously designated Walker-Warburg syndrome (WWS) or muscle-eye-brain disease (MEB), and the intermediate range of the spectrum is represented by congenital muscular dystrophy-dystroglycanopathy with or without mental retardation (type B; see MDDGB1, 613155)

[sbello]

Orphanet structure http://www.orpha.net/ORDO/Orphanet_370953

[sbello]

From https://www.ncbi.nlm.nih.gov/pubmed/29067961:

Alpha-DG-RD is a growing group of muscular dystrophies with a reduction in α-DG's ligand-binding capacity resulting from its aberrant O-glycosylation. It has clinical and genetic heterogeneity. The conditions such as Walker-Warburg syndrome (WWS), Fukuyama CMD (FCMD), and muscle-eye-brain disease (MEB) represent the most severe end of the clinical spectrum of alpha-DG-RD. These conditions are multi-system disorders with severe structural brain and eye abnormalities, which are often associated with cognitive impairment and may result in premature death. At the mildest end of the clinical spectrum, limb-girdle muscular dystrophy (LGMD) patients may present in adult life without associated brain or eye involvement. reference for this section is https://www.ncbi.nlm.nih.gov/pubmed/28427100/

[sbello]

I think we need to retain the entries for Walker-Warburg syndrome and muscle-eye-brain disease as additional classes under 'congenital muscular dystrophy-dystroglycanopathy type A' as these represent grouping of similar phenotypes but may be caused by mutations in any one of the genes. Similar to the Kartagener syndrome and primary ciliary dyskinesia situation.

[sbello]

see also #720

[lschriml]

agreed

On Thu, May 23, 2019 at 4:33 PM Sue Bello [email protected] wrote:

I think we need to retain the entries for Walker-Warburg syndrome and muscle-eye-brain disease as additional classes under 'congenital muscular dystrophy-dystroglycanopathy type A' as these represent grouping of similar phenotypes but may be caused by mutations in any one of the genes. Similar to the Kartagener syndrome and primary ciliary dyskinesia situation.

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[allenbaron]

@lschriml have all remaining modifications for this issue been completed as part of your recent revision of myopathies?

[lschriml]

yes, the work is done.