Add diseases for 'Hyperphosphatasia with mental retardation syndrome' OMIM phenotypic series

[allenbaron]

OMIM's 'Hyperphosphatasia with mental retardation syndrome' phenotypic series PS239300 has not yet been added to the DO.

Note that it has been suggested that the HRMS diseases should be grouped as 'glycosylphosphatidylinositol biosynthesis defect', along with MCAHS diseases, by https://pubmed.ncbi.nlm.nih.gov/29310717/ (see also https://www.omim.org/entry/239300#description and https://www.omim.org/entry/614080#description). Currently, the GPI biosynthesis defect subtypes are not grouped together but are spread out as children of 'autosomal recessive intellectual developmental disorder' (DOID:0060308), 'multiple congenital anomalies-hypotonia-seizures syndrome' (DOID:0080503) and 'developmental and epileptic encephalopathy' (DOID:0112202).

This might be wise to complete in conjunction with work described in issue #814.

[allenbaron]

Adding a note that DO does not have a disease for OMIM:603530 'LIGHT FIXATION SEIZURE SYNDROME' but this disease has been identified as 'multiple congenital anomalies-hypotonia-seizures syndrome 3' (DOID:0080140/OMIM:615398) in https://pubmed.ncbi.nlm.nih.gov/36177944/ and should probably be added as a synonym of that disease (possibly with it's additional synonyms, e.g. "M syndrome").

This has been reported to OMIM.

[allenbaron]

Need to revise definition for 'multiple congenital anomalies-hypotonia-seizures syndrome' (DOID:0080503) since it's not limited to PIGA deficiency. The phenotypes described on its subtypes are about the same and can be moved to the "characterized by" section of this disease if it is kept as their parent instead of a new 'GPI biosynthesis defect' parent.

[vjenkinsFB]

I just went to glance at the pheno series and found this is one of the cases where OMIM updated disease names to not include the word "retardation" but still have it in the pheno series title, which is frustrating for several reasons. Would you please make sure to use something like the "Hyperphosphatasia with impaired intellectual development" that OMIM uses for the individual items when you make the parent disease name? Thank you!

[lschriml]

Add: (1) hyperphosphatasia with impaired intellectual development syndrome - PS239300 synonym: Mabry disease
https://medlineplus.gov/genetics/condition/mabry-syndrome/#synonyms hyperphosphatasia with impaired intellectual development syndrome 1 synonym: glycosylphosphatidylinositol biosynthesis defect 2 hyperphosphatasia with impaired intellectual development syndrome 2 hyperphosphatasia with impaired intellectual development syndrome 3 hyperphosphatasia with impaired intellectual development syndrome 4 hyperphosphatasia with impaired intellectual development syndrome 5 synonym: glycosylphosphatidylinositol biosynthesis defect 11 hyperphosphatasia with impaired intellectual development syndrome 6

as a child of "autosomal recessive intellectual developmental disorder", OMIM:DOID:0060308

More recent articles to review: https://www.frontiersin.org/articles/10.3389/fneur.2021.758899/full https://ojrd.biomedcentral.com/articles/10.1186/s13023-020-01401-z

Cheers, Lynn

[lschriml]

I have revised the definition for 'multiple congenital anomalies-hypotonia-seizures syndrome' and added xrefs.

[lschriml]

'LIGHT FIXATION SEIZURE SYNDROME added as a synonym, OMIM ID added to DOID:0080140

also added the publication to the definition xref

[allenbaron]

These diseases will be included in the June 2023 release. As needed, further review of the classification should be completed as part of https://github.com/DiseaseOntology/HumanDiseaseOntology/issues/814.