LPFS1
MCID: LYM106
MIFTS: 31
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Lymphoproliferative Syndrome 1 (LPFS1)
Categories:
Blood diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Rare diseases
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MalaCards integrated aliases for Lymphoproliferative Syndrome 1:Characteristics:OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
onset in childhood fatal without bone marrow transplantation HPO:32
lymphoproliferative syndrome 1:
Onset and clinical course juvenile onset Inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Immune diseases Blood diseases Gastrointestinal diseases
ICD10:
33
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OMIM
:
57
Lymphoproliferative syndrome-1 is an autosomal recessive primary immunodeficiency characterized by onset in early childhood of Epstein-Barr virus (EBV)-associated immune dysregulation, manifest as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and/or hypogammaglobulinemia. Autoimmune disorders, such as autoimmune hemolytic anemia or renal disease, may also occur. Patients show a high EBV viral load and decreased invariant natural killer T cells. It is unknown whether patients with ITK mutations are intrinsically susceptible to development of lymphoma or dysgammaglobulinemia in the absence of EBV infection (summary by Stepensky et al., 2011; Linka et al., 2012).
For a discussion of genetic heterogeneity of lymphoproliferative syndrome, see XLP1 (308240). (613011)
MalaCards based summary : Lymphoproliferative Syndrome 1, also known as lpfs1, is related to lymphoproliferative syndrome, x-linked, 1 and lymphoproliferative syndrome. An important gene associated with Lymphoproliferative Syndrome 1 is ITK (IL2 Inducible T Cell Kinase), and among its related pathways/superpathways are T cell receptor signaling pathway and NF-kappaB Signaling. Affiliated tissues include t cells, bone and liver, and related phenotypes are splenomegaly and hepatomegaly Disease Ontology : 12 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. UniProtKB/Swiss-Prot : 75 Lymphoproliferative syndrome 1: A rare immunodeficiency characterized by extreme susceptibility to infection with Epstein-Barr virus (EBV). Inadequate immune response to EBV can have a fatal outcome. Clinical features include splenomegaly, lymphadenopathy, anemia, thrombocytopenia, pancytopenia, recurrent infections. There is an increased risk for lymphoma. |
Diseases in the Lymphoproliferative Syndrome family:Diseases related to Lymphoproliferative Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:
Graphical network of the top 20 diseases related to Lymphoproliferative Syndrome 1:![]() |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:613011Human phenotypes related to Lymphoproliferative Syndrome 1:32 (show all 13)
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MalaCards organs/tissues related to Lymphoproliferative Syndrome 1:41
T Cells,
Bone,
Liver,
B Cells,
Bone Marrow
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UniProtKB/Swiss-Prot genetic disease variations for Lymphoproliferative Syndrome 1:75
ClinVar genetic disease variations for Lymphoproliferative Syndrome 1:6 (show all 48)
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Search
GEO
for disease gene expression data for Lymphoproliferative Syndrome 1.
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Pathways related to Lymphoproliferative Syndrome 1 according to KEGG:37
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Biological processes related to Lymphoproliferative Syndrome 1 according to GeneCards Suite gene sharing:
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