PGM3 deficiency (original) (raw)
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 Institute of Tunis, Sandra Lazaroski at the University Medical Center Freiburg, and Gang Wu at the Imperial College London, identified PGM3 mutations in nine patients from four consanguineous families. In the same year, a researchers from the laboratories of Joshua Milner and Helen Su at the National Institute of Allergy and Infectious Disease at the U.S. National Institutes of Health described PGM3 deficiency in eight additional patients from
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| dbo:abstract | 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 Institute of Tunis, Sandra Lazaroski at the University Medical Center Freiburg, and Gang Wu at the Imperial College London, identified PGM3 mutations in nine patients from four consanguineous families. In the same year, a researchers from the laboratories of Joshua Milner and Helen Su at the National Institute of Allergy and Infectious Disease at the U.S. National Institutes of Health described PGM3 deficiency in eight additional patients from two families. (en) |
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| dbo:orpha | 443811 |
| dbo:thumbnail | wiki-commons:Special:FilePath/PGM3.png?width=300 |
| dbo:wikiPageExternalLink | http://www.omim.org/entry/172100 |
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| dbo:wikiPageLength | 10395 (xsd:nonNegativeInteger) |
| dbo:wikiPageRevisionID | 1053007532 (xsd:integer) |
| dbo:wikiPageWikiLink | dbr:Scoliosis dbr:Eosinophilia dbr:GlcNAc dbr:Hyperimmunoglobulin_E_syndrome dbr:Uridine_diphosphate_N-acetylglucosamine dbr:Dysarthria dbr:Leukopenia dbr:O-linked_glycosylation dbr:Congenital_disorder_of_glycosylation dbr:Chemical_specificity dbr:Genetic_disorder dbr:Enzyme dbr:Gene dbr:Myoclonus dbr:Consanguinity dbr:Protein_domains dbr:Anemia dbr:Lymphopenia dbr:Deletion_(genetics) dbr:Autosomal_recessive dbr:Bronchiectasis dbr:Amino_acid dbc:Genetic_diseases_and_disorders dbr:Exons dbr:Glycosylation dbr:Flat_warts dbr:Hepatosplenomegaly dbr:Ataxia dbr:Atopic_dermatitis dbr:Atopy dbr:Autoimmunity dbr:CD4 dbr:CD8 dbr:Pneumonia dbr:Consanguineous dbr:IgE dbr:Microcephaly dbr:Recessive dbr:IgA dbr:Sinusitis dbr:Neutropenia dbr:Immune_system dbr:Immunodeficiency dbr:Immunoglobulin_G dbr:N-linked_glycosylation dbr:Phosphoglucomutase_3 dbr:UDP-GlcNAc dbr:Enzymatic_activity dbr:Hypomorphic dbr:PGM3 dbr:Missense dbr:Immune_deficiency dbr:Cutaneous_vasculitis dbr:Staphylococcal dbr:T-cell dbr:File:Autosomal_recessive_-_en.svg dbr:File:PGM3.png |
| dbp:icd | E77.8 (en) |
| dbp:name | PGM3 deficiency (en) |
| dbp:omim | 615816 (xsd:integer) |
| dbp:orphanet | 443811 (xsd:integer) |
| dbp:synonyms | PGM3-related congenital disorder of glycosylation (en) |
| dbp:wikiPageUsesTemplate | dbt:Infobox_medical_condition_(new) dbt:Medical_resources dbt:Reflist dbt:Short_description |
| dct:subject | dbc:Genetic_diseases_and_disorders |
| rdf:type | owl:Thing wikidata:Q12136 dbo:Disease |
| rdfs:comment | 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 Institute of Tunis, Sandra Lazaroski at the University Medical Center Freiburg, and Gang Wu at the Imperial College London, identified PGM3 mutations in nine patients from four consanguineous families. In the same year, a researchers from the laboratories of Joshua Milner and Helen Su at the National Institute of Allergy and Infectious Disease at the U.S. National Institutes of Health described PGM3 deficiency in eight additional patients from (en) |
| rdfs:label | PGM3 deficiency (en) |
| owl:sameAs | wikidata:PGM3 deficiency https://global.dbpedia.org/id/2MLhg |
| prov:wasDerivedFrom | wikipedia-en:PGM3_deficiency?oldid=1053007532&ns=0 |
| foaf:depiction | wiki-commons:Special:FilePath/PGM3.png wiki-commons:Special:FilePath/Autosomal_recessive_-_en.svg |
| foaf:isPrimaryTopicOf | wikipedia-en:PGM3_deficiency |
| foaf:name | PGM3 deficiency (en) |
| is dbo:wikiPageWikiLink of | dbr:Hyperimmunoglobulin_E_syndrome |
| is foaf:primaryTopic of | wikipedia-en:PGM3_deficiency |
