MCID: LYM106
MIFTS: 24

Lymphoproliferative Syndrome 1

Categories: Genetic diseases, Rare diseases, Blood diseases, Gastrointestinal diseases, Immune diseases

Aliases & Classifications for Lymphoproliferative Syndrome 1

MalaCards integrated aliases for Lymphoproliferative Syndrome 1:

Name: Lymphoproliferative Syndrome 1 53 12 71 36 28 13 69
Lpfs1 53 12 71
Lymphoproliferative Syndrome, Ebv-Associated, Autosomal, 1 71

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
onset in childhood
fatal without bone marrow transplantation


HPO:

31
lymphoproliferative syndrome 1:
Onset and clinical course juvenile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Lymphoproliferative Syndrome 1

OMIM : 53 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 has symptoms including splenomegaly, hepatomegaly and anemia. An important gene associated with Lymphoproliferative Syndrome 1 is ITK (IL2 Inducible T Cell Kinase), and among its related pathways/superpathways is T cell receptor signaling pathway. Affiliated tissues include t cells, liver and bone.

UniProtKB/Swiss-Prot : 71 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.

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.

Related Diseases for Lymphoproliferative Syndrome 1

Symptoms & Phenotypes for Lymphoproliferative Syndrome 1

Symptoms via clinical synopsis from OMIM:

53
Abdomen Spleen:
splenomegaly

Hematology:
anemia
pancytopenia
thrombocytopenia

Laboratory Abnormalities:
elevated erythrocyte sedimentation rate (esr)
increased c-reactive protein
high ebv viral load

Abdomen Liver:
hepatomegaly
impaired liver function

Immunology:
recurrent infections
lymphadenopathy
autoimmune disorders
hypogammaglobulinemia
mononucleosis
more
Neoplasia:
increased risk for lymphoma hodgkin disease


Clinical features from OMIM:

613011

Human phenotypes related to Lymphoproliferative Syndrome 1:

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 splenomegaly 31 HP:0001744
2 hepatomegaly 31 HP:0002240
3 anemia 31 HP:0001903
4 pancytopenia 31 HP:0001876
5 autoimmunity 31 HP:0002960
6 thrombocytopenia 31 HP:0001873
7 recurrent infections 31 HP:0002719
8 lymphoma 31 HP:0002665
9 lymphadenopathy 31 HP:0002716
10 igg deficiency 31 HP:0004315
11 recurrent aphthous stomatitis 31 HP:0011107
12 elevated erythrocyte sedimentation rate 31 HP:0003565

Drugs & Therapeutics for Lymphoproliferative Syndrome 1

Search Clinical Trials , NIH Clinical Center for Lymphoproliferative Syndrome 1

Genetic Tests for Lymphoproliferative Syndrome 1

Genetic tests related to Lymphoproliferative Syndrome 1:

# Genetic test Affiliating Genes
1 Lymphoproliferative Syndrome 1 28 ITK

Anatomical Context for Lymphoproliferative Syndrome 1

MalaCards organs/tissues related to Lymphoproliferative Syndrome 1:

38
T Cells, Liver, Bone, Bone Marrow, B Cells

Publications for Lymphoproliferative Syndrome 1

Variations for Lymphoproliferative Syndrome 1

UniProtKB/Swiss-Prot genetic disease variations for Lymphoproliferative Syndrome 1:

71
# Symbol AA change Variation ID SNP ID
1 ITK p.Arg335Trp VAR_063424 rs121908191

ClinVar genetic disease variations for Lymphoproliferative Syndrome 1:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ITK NM_005546.3(ITK): c.1003C> T (p.Arg335Trp) single nucleotide variant Pathogenic rs121908191 GRCh37 Chromosome 5, 156668673: 156668673
2 ITK NM_005546.3(ITK): c.1764C> G (p.Tyr588Ter) single nucleotide variant Pathogenic rs397514260 GRCh37 Chromosome 5, 156675990: 156675990
3 ITK NM_005546.3(ITK): c.86G> A (p.Arg29His) single nucleotide variant Pathogenic rs397514261 GRCh37 Chromosome 5, 156608074: 156608074

Expression for Lymphoproliferative Syndrome 1

Search GEO for disease gene expression data for Lymphoproliferative Syndrome 1.

Pathways for Lymphoproliferative Syndrome 1

Pathways related to Lymphoproliferative Syndrome 1 according to KEGG:

36
# Name Kegg Source Accession
1 T cell receptor signaling pathway hsa04660

GO Terms for Lymphoproliferative Syndrome 1

Sources for Lymphoproliferative Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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