FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
Help Close All Open All
General Information
Term lymphoproliferative syndrome 1 ID (Ontology) DOID:0060707 (Human Disease)
Definition A lymphoproliferative syndrome characterized by autosomal recessive inheritance, early childhood onset of Epstein-Barr virus-associated immune dysregulation typically manifesting as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and-or hypogammaglobulinemia and that has_material_basis_in homozygous mutation in the ITK gene on chromosome 5q32.
Also Known As "LPFS1"
Comment
Links to External Ontologies
DO.org
Annotations
Records annotated with this term OR any of its CHILD TERMS
    Results list data from multiple species. Click on a button above and use the 'Filter by species' options on the resulting HitList to retrieve species-specific data.
Records annotated with this exact term (annotations to child terms are NOT included)
No relevant records available
show Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
 Full annotation statements 
Relevant FlyBase reports
 Genes
 lymphoproliferative syndrome 1       1
 for disease ribbon | lymphoproliferative syndrome 1       1
 model of | lymphoproliferative syndrome 1       1
Spanning Tree (Parents/Children)
Only view relationship: 
autosomal genetic disease
 |__autosomal recessive disease___
primary immunodeficiency disease  |
 |__lymphoproliferative syndrome__|
                                  lymphoproliferative syndrome 1  1 rec.
Spanning Tree View Settings
Parents/Children
View Depth
Show hierarchy levels: for parents, for children
hide Relationships
Is a autosomal recessive disease
lymphoproliferative syndrome
Part of
hide Synonyms & Secondary IDs
Synonyms
  • "LPFS1" EXACT OMO:0003012
Secondary IDs
hide External Crossreferences & Linkouts
ICD10CM:D47.9
MIM:613011