Features include always present findings: Seizure and Severe global developmental delay; and common findings: Hypertonia, Parietal bossing, Hypsarrhythmia, and Wide anterior fontanel and others. 25 total HPO annotations.

MPDU1 encodes mannose-P-dolichol utilization defect 1 (247 aa). Required for normal utilization of mannose-dolichol phosphate (Dol-P-Man) in the synthesis of N-linked and O-linked oligosaccharides and GPI anchors Highest expression in Cells Cultured fibroblasts (64.0 TPM) and Kidney Medulla (52.5 TPM).

MPDU1-congenital disorder of glycosylation is caused by mutations in the MPDU1 gene on chromosome 17.

The MPDU1 protein participates in MPDU1 L171Sfs*42, Defective MPDU1 causes CDG-1f, and Defective MPDU1 does not promote transfer of Man to (GlcNAc)2 (Man)5 (PP-Dol)1 by ALG3 pathways.

MPDU1 is classified as a druggable target (Transporter category) with score 0.0.

Genetic testing for MPDU1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for MPDU1-congenital disorder of glycosylation has been reported in the published literature.

Phenotype severity distribution: 2 always present features, 9 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for MPDU1-congenital disorder of glycosylation.

209 publications have been identified in PubMed for MPDU1-congenital disorder of glycosylation. Kisho has analyzed 147 by research type. Research spans Review / Meta-Analysis (50%), Basic Science / Preclinical (37%), and Epidemiology / Natural History (4%).