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PGM3 deficiency

PGM3 deficiency is a rare genetic disorder of the immune system associated with diminished phosphoglucomutase 3 function. PGM3 is an enzyme which in humans is encoded by gene PGM3. This disorder manifests as severe atopy, immune deficiency, autoimmunity, intellectual disability, and hypomyelination. In 2014, Investigators Atfa Sassi at the Pasteur…

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Other names
PGM3-related congenital disorder of glycosylation

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Overview

Signs and symptoms

Genetics

Diagnosis

Treatment

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PGM3 deficiency

Nodes60
Edges59
Triples22
Avg. degree1.97
Density0.033333
Components1

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PGM3 deficiency

Top relations

related to Genetics · 15
PGM3 deficiency → All, GlcNac-1-P, GlcNAc-6-phosphate, GlnNAc-6-P, GlnNAc-a-phosphate, Impaired, Missense, Mutations, N-acetylglucosamine, N-linked, O-linked, OMIM, PGM3, Protein PGM3, UDP-GlcNAc
related to Inheritance · 5
PGM3 deficiency → Autosomal, PGM3, Recessive, Typically, When
Other names · 1
PGM3 deficiency → PGM3-related congenital disorder of glycosylation
is a · 1
PGM3 deficiency → rare genetic disorder of the immune system associated with diminished phosphoglucomutase 3 function

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Important terminology

pgm3 patients glycosylation deficiency disorder gene mutations severe two immune function identified institute families national treatment abnormal clinical one disease

Entity relationships Subject–Predicate–Object triples

SubjectPredicateObjectConfidenceSrc
PGM3 deficiencyOther namesPGM3-related congenital disorder of glycosylation1.00infobox
PGM3 deficiencyis arare genetic disorder of the immune system associated with diminished phosphoglucomutase 3 function0.90text
PGM3 deficiencyrelated to GeneticsPGM30.60section
PGM3 deficiencyrelated to GeneticsOMIM0.60section
PGM3 deficiencyrelated to GeneticsProtein PGM30.60section
PGM3 deficiencyrelated to GeneticsGlcNAc-6-phosphate0.60section
PGM3 deficiencyrelated to GeneticsGlnNAc-6-P0.60section
PGM3 deficiencyrelated to GeneticsGlnNAc-a-phosphate0.60section
PGM3 deficiencyrelated to GeneticsGlcNac-1-P0.60section
PGM3 deficiencyrelated to GeneticsN-acetylglucosamine0.60section
PGM3 deficiencyrelated to GeneticsUDP-GlcNAc0.60section
PGM3 deficiencyrelated to GeneticsImpaired0.60section

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