NTR: diphthamide deficiency syndrome

[srengel]

Include:

• new disease terms or updates to DO's disease terms

NTR: diphthamide deficiency syndrome

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Autosomal recessive diphthamide deficiency syndrome presents as intellectual disability with developmental abnormalities, seizures, craniofacial and additional morphological phenotypes. It is caused by reduced activity of proteins that synthesize diphthamide on human translation elongation factor 2. Diphthamide synthesis requires seven proteins (DPH1-DPH7) with clinical deficiency described for DPH1, DPH2 and DPH5.

https://pubmed.ncbi.nlm.nih.gov/37675463/

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trying to annotate the yeast orthologs at SGD https://www.yeastgenome.org/reference/S000345302

• include contact information along with your ORCID id, so that we can provide attribution for your contribution

Stacia Engel, SGD www.yeastgenome.org 0000-0001-5472-917X

[allenbaron]

Stacia, thanks for requesting this. Three diphthamide deficiency syndrome diseases will be in the next release (linked to mutations in the DPH1, DPH2 & DPH5 genes).

Thanks for the great work you're doing at SGD. My apologies for the delayed response.

[allenbaron]

Because dipthamide is an amino acid and this disease is caused by disruption of a metabolic process (post-translation modification of histidine to dipthamide), 'dipthamide deficiency syndrome' will be classified as an 'amino acid metabolic disorder' (DOID:9252).

dipthamide structure (from Wikipedia)