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Deficiency of mannose-6-phosphate isomerase

MedGen UID:
713905
•Concept ID:
C1291610
•
Disease or Syndrome
Synonyms: Deficiency of phosphohexoisomerase; Deficiency of phosphohexomutase; Deficiency of phosphomannose isomerase
SNOMED CT: Deficiency of phosphomannose isomerase (124668009); Deficiency of phosphohexomutase (124668009); Deficiency of phosphohexoisomerase (124668009); Deficiency of mannose-6-phosphate isomerase (124668009)

Professional guidelines

PubMed

Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylation.
Čechová A, Altassan R, Borgel D, Bruneel A, Correia J, Girard M, Harroche A, Kiec-Wilk B, Mohnike K, Pascreau T, Pawliński Ł, Radenkovic S, Vuillaumier-Barrot S, Aldamiz-Echevarria L, Couce ML, Martins EG, Quelhas D, Morava E, de Lonlay P, Witters P, Honzík T
J Inherit Metab Dis 2020 Jul;43(4):671-693. Epub 2020 Apr 21 doi: 10.1002/jimd.12241. PMID: 32266963Free PMC Article
Clinical utility gene card for: Phosphomannose isomerase deficiency.
Jaeken J, Lefeber D, Matthijs G
Eur J Hum Genet 2014 Sep;22(9) Epub 2014 Feb 26 doi: 10.1038/ejhg.2014.29. PMID: 24569608Free PMC Article
The prenatal diagnosis of congenital disorders of glycosylation (CDG).
Matthijs G, Schollen E, Van Schaftingen E
Prenat Diagn 2004 Feb;24(2):114-6. doi: 10.1002/pd.815. PMID: 14974118

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