TRIANGLE disease (original) (raw)
TRIANGLE disease is a rare genetic disorder of the immune system. TRIANGLE stands for “TPPII-related immunodeficiency, autoimmunity, and neurodevelopmental delay with impaired glycolysis and lysosomal expansion” where TPP2 is the causative gene. This disease manifests as recurrent infection, autoimmunity, and neurodevelopmental delay. TRIANGLE disease was first described in a collaborative study by Dr. Helen C. Su from the National Institute of Allergy and Infectious Diseases, National Institutes of Health, and Dr. Sophie Hambleton from the University of Newcastle and their collaborators in 2014. The disease was also described by the group of Ehl et al.
| Property | Value |
|---|---|
| dbo:abstract | TRIANGLE disease is a rare genetic disorder of the immune system. TRIANGLE stands for “TPPII-related immunodeficiency, autoimmunity, and neurodevelopmental delay with impaired glycolysis and lysosomal expansion” where TPP2 is the causative gene. This disease manifests as recurrent infection, autoimmunity, and neurodevelopmental delay. TRIANGLE disease was first described in a collaborative study by Dr. Helen C. Su from the National Institute of Allergy and Infectious Diseases, National Institutes of Health, and Dr. Sophie Hambleton from the University of Newcastle and their collaborators in 2014. The disease was also described by the group of Ehl et al. (en) |
| dbo:icd10 | D61.0 |
| dbo:orpha | 444463 |
| dbo:thumbnail | wiki-commons:Special:FilePath/Autosomal_recessive_-_en.svg?width=300 |
| dbo:wikiPageID | 47929454 (xsd:integer) |
| dbo:wikiPageLength | 8187 (xsd:nonNegativeInteger) |
| dbo:wikiPageRevisionID | 1087732785 (xsd:integer) |
| dbo:wikiPageWikiLink | dbr:Natural_killer_cell dbr:Developmental_delay dbr:Innate_immunity dbr:Glycolysis dbr:Consanguinity dbc:Autosomal_recessive_disorders dbr:Autosomal_recessive dbc:Autoimmune_diseases dbc:Developmental_disabilities dbr:Amino_acids dbc:Rare_diseases dbr:Hematopoietic_stem_cell_transplantation dbr:B_cell dbr:Hypergammaglobulinemia dbc:Immune_system_disorders dbr:Autoimmunity dbr:Naive_T_cells dbr:National_Institute_of_Allergy_and_Infectious_Diseases dbr:Immune_system dbr:Immunodeficiency dbr:T_cell dbr:Lysosomal dbr:Adaptive_immunity dbr:Combined_immunodeficiency dbr:Loss-of-function dbr:Neurodevelopmental dbr:TPP2 dbr:File:Cell_photo1.jpg |
| dbp:caption | TRIANGLE disease has an autosomal recessive pattern of inheritance (en) |
| dbp:icd | D61.0 (en) |
| dbp:name | TRIANGLE disease (en) |
| dbp:orphanet | 444463 (xsd:integer) |
| dbp:synonyms | TPPII-related immunodeficiency, autoimmunity, and neurodevelopmental delay with impaired glycolysis and lysosomal expansion disease (en) |
| dbp:wikiPageUsesTemplate | dbt:Citation_needed dbt:Empty_section dbt:Infobox_medical_condition_(new) dbt:Medical_resources dbt:Multiple_issues dbt:Orphan dbt:Reflist dbt:Technical dbt:Medicine |
| dcterms:subject | dbc:Autosomal_recessive_disorders dbc:Autoimmune_diseases dbc:Developmental_disabilities dbc:Rare_diseases dbc:Immune_system_disorders |
| gold:hypernym | dbr:Disorder |
| rdf:type | owl:Thing wikidata:Q12136 dbo:Disease |
| rdfs:comment | TRIANGLE disease is a rare genetic disorder of the immune system. TRIANGLE stands for “TPPII-related immunodeficiency, autoimmunity, and neurodevelopmental delay with impaired glycolysis and lysosomal expansion” where TPP2 is the causative gene. This disease manifests as recurrent infection, autoimmunity, and neurodevelopmental delay. TRIANGLE disease was first described in a collaborative study by Dr. Helen C. Su from the National Institute of Allergy and Infectious Diseases, National Institutes of Health, and Dr. Sophie Hambleton from the University of Newcastle and their collaborators in 2014. The disease was also described by the group of Ehl et al. (en) |
| rdfs:label | TRIANGLE disease (en) |
| owl:sameAs | yago-res:TRIANGLE disease wikidata:TRIANGLE disease https://global.dbpedia.org/id/2MfsV |
| prov:wasDerivedFrom | wikipedia-en:TRIANGLE_disease?oldid=1087732785&ns=0 |
| foaf:depiction | wiki-commons:Special:FilePath/Autosomal_recessive_-_en.svg wiki-commons:Special:FilePath/Cell_photo1.jpg |
| foaf:isPrimaryTopicOf | wikipedia-en:TRIANGLE_disease |
| foaf:name | TRIANGLE disease (en) |
| is foaf:primaryTopic of | wikipedia-en:TRIANGLE_disease |
