MCID: LYM033
MIFTS: 55

Lymphoproliferative Syndrome

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

Aliases & Classifications for Lymphoproliferative Syndrome

MalaCards integrated aliases for Lymphoproliferative Syndrome:

Name: Lymphoproliferative Syndrome 12 29 55 6 15
Lymphoproliferative Disorders 55 73
Lymphoproliferative Disorder 29

Classifications:



External Ids:

Disease Ontology 12 DOID:0060704
UMLS 73 C0024314

Summaries for Lymphoproliferative Syndrome

Disease Ontology : 12 A primary immunodeficiency disease characterized by immune dysregulation typically after viral infection, usually associated with Epstein-Barr viral infection.

MalaCards based summary : Lymphoproliferative Syndrome, also known as lymphoproliferative disorders, is related to lymphoproliferative syndrome 1 and autoimmune lymphoproliferative syndrome, type iii. An important gene associated with Lymphoproliferative Syndrome is SH2D1A (SH2 Domain Containing 1A), and among its related pathways/superpathways are Innate Immune System and Apoptotic Pathways in Synovial Fibroblasts. The drugs Mycophenolate mofetil and Mycophenolic acid have been mentioned in the context of this disorder. Affiliated tissues include t cells, bone marrow and bone, and related phenotypes are Reduced mammosphere formation and Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance

Related Diseases for Lymphoproliferative Syndrome

Diseases in the Lymphoproliferative Syndrome family:

Autoimmune Lymphoproliferative Syndrome Autoimmune Lymphoproliferative Syndrome, Type Iia
Lymphoproliferative Syndrome 1 Lymphoproliferative Syndrome 2
Autoimmune Lymphoproliferative Syndrome, Type Iii Autoimmune Lymphoproliferative Syndrome, Type V
Autoimmune Lymphoproliferative Syndrome Due to Ctla4 Haploinsuffiency Autosomal Recessive Lymphoproliferative Disease

Diseases related to Lymphoproliferative Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 102)
# Related Disease Score Top Affiliating Genes
1 lymphoproliferative syndrome 1 34.6 ITK SH2D1A
2 autoimmune lymphoproliferative syndrome, type iii 34.5 CASP10 FASLG PRKCD
3 lymphoproliferative syndrome, x-linked, 2 34.1 SH2D1A XIAP
4 lymphoproliferative syndrome 2 33.5 CD27 IL2RA XIAP
5 lymphoproliferative syndrome, x-linked, 1 33.0 CD244 PTPN11 SH2D1A SLAMF1 XIAP
6 autosomal recessive lymphoproliferative disease 32.5 CD27 ITK
7 autoimmune lymphoproliferative syndrome 29.3 CASP10 CASP8 CTLA4 FAS FASLG IL2
8 hemophagocytic lymphohistiocytosis 28.6 CD27 FAS IL2RA ITK SH2D1A XIAP
9 autoimmune disease 28.2 CTLA4 FAS IL2 IL2RA
10 combined immunodeficiency, x-linked 27.8 IL2 IL2RA PTPRC
11 common variable immunodeficiency 27.7 CD27 CTLA4 FAS IL2 IL2RA PRKCD
12 lymphoma, non-hodgkin, familial 25.2 CASP10 CASP8 CD27 FAS IL2 IL2RA
13 autoimmune lymphoproliferative syndrome, type iia 12.4
14 autoimmune lymphoproliferative syndrome, type v 12.3
15 methotrexate-associated lymphoproliferative disorders 12.1
16 autoimmune lymphoproliferative syndrome due to ctla4 haploinsuffiency 12.0
17 caspase 8 deficiency 11.8
18 ras-associated autoimmune leukoproliferative disorder 11.8
19 igg4-related disease 11.1
20 dianzani autoimmune lymphoproliferative disease 11.1
21 infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 10.8
22 castleman disease 10.8
23 virus associated hemophagocytic syndrome 10.8
24 type ii mixed cryoglobulinemia 10.7 FAS FASLG
25 dysgammaglobulinemia 10.7 ITK SH2D1A XIAP
26 lymphocytic gastritis 10.5 FAS FASLG
27 b cell deficiency 10.5 CD27 PRKCD SH2D1A
28 cowpox 10.5 CASP8 FAS XIAP
29 selective immunoglobulin deficiency disease 10.5 ITK SH2D1A
30 pneumoconiosis 10.4 CASP8 FAS FASLG
31 hypersensitivity reaction type iv disease 10.3 CASP10 FAS IL2
32 fixed drug eruption 10.2 CD27 IL2
33 graft-versus-host disease 10.1 FAS FASLG IL2
34 lymphoma 10.1
35 thyroiditis 10.1 CTLA4 FASLG IL2
36 cell type cancer 10.0 CTLA4 IL2 NRAS
37 gastric adenocarcinoma 9.9 CASP8 FAS FASLG NRAS
38 splenomegaly 9.8
39 graves' disease 9.8 CTLA4 FAS FASLG IL2RA
40 acute graft versus host disease 9.7 FASLG IL2 IL2RA
41 b-cell expansion with nfkb and t-cell anergy 9.7 FASLG IL2 IL2RA
42 aplastic anemia 9.7 FAS FASLG IL2 NRAS SH2D1A
43 gray platelet syndrome 9.7
44 systemic lupus erythematosus 9.7
45 lymphoma, hodgkin, classic 9.7
46 purpura 9.7
47 pancreatitis 9.7
48 vasculitis 9.7
49 lupus erythematosus 9.7
50 evans' syndrome 9.7

Graphical network of the top 20 diseases related to Lymphoproliferative Syndrome:



Diseases related to Lymphoproliferative Syndrome

Symptoms & Phenotypes for Lymphoproliferative Syndrome

GenomeRNAi Phenotypes related to Lymphoproliferative Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 9.56 CD27 FAS FASLG IL2RA ITK NRAS
2 Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance GR00210-A 9.55 ITK NRAS PRKCD PTPN11 PTPRC
3 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.4 IL2 IL2RA XIAP CASP8 FAS
4 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.4 FAS FASLG IL2 IL2RA XIAP CASP8

MGI Mouse Phenotypes related to Lymphoproliferative Syndrome:

46 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.39 PRKCD PTPN11 PTPRC SH2D1A SLAMF1 XIAP
2 immune system MP:0005387 10.32 CASP8 CD244 CD27 CTLA4 FAS FASLG
3 cellular MP:0005384 10.27 CASP8 CD27 FAS FASLG IL2 INPP5D
4 endocrine/exocrine gland MP:0005379 10.27 IL2 IL2RA INPP5D ITK NRAS PRKCD
5 homeostasis/metabolism MP:0005376 10.22 CASP8 CTLA4 FAS FASLG IL2 IL2RA
6 cardiovascular system MP:0005385 10.21 FAS CASP8 CTLA4 FASLG IL2 INPP5D
7 digestive/alimentary MP:0005381 10.13 CTLA4 FAS FASLG IL2 IL2RA INPP5D
8 mortality/aging MP:0010768 9.93 CASP8 CTLA4 FAS FASLG IL2 IL2RA
9 integument MP:0010771 9.92 CASP8 CTLA4 FAS FASLG INPP5D NRAS
10 liver/biliary system MP:0005370 9.91 PTPN11 PTPRC CASP8 CTLA4 FAS FASLG
11 neoplasm MP:0002006 9.56 PTPN11 PTPRC CASP8 FAS FASLG IL2
12 respiratory system MP:0005388 9.28 CASP8 CTLA4 FAS FASLG IL2 IL2RA

Drugs & Therapeutics for Lymphoproliferative Syndrome

Drugs for Lymphoproliferative Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 93)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Mycophenolate mofetil Approved, Investigational Phase 4,Phase 3 128794-94-5 5281078
2
Mycophenolic acid Approved Phase 4,Phase 3 24280-93-1 446541
3 Vaccines Phase 4
4 Anti-Infective Agents Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
5 Anti-Bacterial Agents Phase 4,Phase 3,Phase 1,Phase 2
6 Antibiotics, Antitubercular Phase 4,Phase 3,Phase 1,Phase 2
7 Antitubercular Agents Phase 4,Phase 3
8
Miconazole Approved, Investigational, Vet_approved Phase 3,Phase 1,Phase 2,Not Applicable 22916-47-8 4189
9
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
10
Everolimus Approved Phase 3,Phase 1,Phase 2 159351-69-6 6442177
11
Methylprednisolone Approved, Vet_approved Phase 3,Not Applicable 83-43-2 6741
12
Prednisolone Approved, Vet_approved Phase 3,Not Applicable 50-24-8 5755
13
Sirolimus Approved, Investigational Phase 3,Phase 1,Phase 2 53123-88-9 5284616 6436030 46835353
14 tannic acid Approved, Nutraceutical Phase 3
15 Antifungal Agents Phase 3,Phase 1,Phase 2,Not Applicable
16 Antirheumatic Agents Phase 3,Not Applicable
17 Calcineurin Inhibitors Phase 3,Not Applicable
18 Cyclosporins Phase 3,Not Applicable
19 Dermatologic Agents Phase 3,Not Applicable
20 Immunosuppressive Agents Phase 3,Phase 2,Phase 1,Not Applicable
21 Antibodies Phase 3
22 Antiemetics Phase 3,Not Applicable
23 Anti-Inflammatory Agents Phase 3,Not Applicable
24 Antineoplastic Agents, Hormonal Phase 3,Not Applicable
25 Autonomic Agents Phase 3,Not Applicable
26 Gastrointestinal Agents Phase 3,Not Applicable
27 glucocorticoids Phase 3,Not Applicable
28 Hormone Antagonists Phase 3,Not Applicable
29 Hormones Phase 3,Not Applicable
30 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Not Applicable
31 Immunoglobulin G Phase 3
32 Immunoglobulins Phase 3
33 Methylprednisolone acetate Phase 3,Not Applicable
34 Methylprednisolone Hemisuccinate Phase 3,Not Applicable
35 Neuroprotective Agents Phase 3,Not Applicable
36 Peripheral Nervous System Agents Phase 3,Not Applicable
37 Prednisolone acetate Phase 3,Not Applicable
38 Prednisolone hemisuccinate Phase 3,Not Applicable
39 Prednisolone phosphate Phase 3,Not Applicable
40 Protective Agents Phase 3,Not Applicable
41
Valproic Acid Approved, Investigational Phase 1, Phase 2 99-66-1 3121
42
alemtuzumab Approved, Investigational Phase 2 216503-57-0
43
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
44
Melphalan Approved Phase 2 148-82-3 4053 460612
45
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
46
Hydroxyurea Approved Phase 2 127-07-1 3657
47 Alkylating Agents Phase 2,Not Applicable
48 Antimetabolites Phase 2,Not Applicable
49 Antimetabolites, Antineoplastic Phase 2,Not Applicable
50 Antineoplastic Agents, Alkylating Phase 2,Not Applicable

Interventional clinical trials:

(show all 17)
# Name Status NCT ID Phase Drugs
1 Low Grade Lymphoma Unknown status NCT01698866 Phase 4
2 A Study of the Impact of an Early Biopsy in Patients Treated With CellCept (Mycophenolate Mofetil) After Kidney Transplantation Completed NCT00817687 Phase 4 mycophenolate mofetil [CellCept];mycophenolate mofetil [CellCept]
3 Study Comparing Efficacy and Safety of Mycophenolate Mofetil (Cellcept) With Delayed Introduction of Sirolimus and Discontinuation of Cyclosporine, With Those of Mycophenolate Mofetil and Long Term Continuation of Cyclosporine in Renal Transplant Recipien Completed NCT02686619 Phase 3 Cyclosporine;Daclizumab;Mycophenoate Mofetil;Prednisolone;Sirolimus
4 Valproic Acid (Depakote[Registered Trademark]) to Treat Autoimmune Lymphoproliferative Syndrome (ALPS) Completed NCT00605657 Phase 1, Phase 2 Valproic Acid
5 Immune Disorder HSCT Protocol Recruiting NCT01821781 Phase 2 Transplant preparative regimen of alemtuzumab, fludarabine, thiotepa, and melphalan
6 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2 Hydroxyurea;Alemtuzumab;Fludarabine;Melphalan;Thiotepa
7 Sirolimus for Autoimmune Disease of Blood Cells Active, not recruiting NCT00392951 Phase 1, Phase 2 sirolimus
8 Pyrimethamine and Sulfadoxine for Treatment of Autoimmune Lymphoproliferative Syndrome Completed NCT00013689 Phase 1 Fansidar (pyrimethamine and sulfadoxine)
9 Pyrimethamine to Treat Autoimmune Lymphoproliferative Syndrome Completed NCT00065390 Phase 1 Pyrimethamine
10 Pilot Study of Unrelated Donor Hematopoietic Stem Cell Transplantation in Patients With Life Threatening Hemophagocytic Disorders Unknown status NCT00006056 Not Applicable anti-thymocyte globulin;busulfan;cyclophosphamide;cyclosporine;etoposide;filgrastim;methotrexate
11 Fluorodeoxyglucose-Positron Emission Tomography (FDG-PET) to Evaluate Autoimmune Lymphoproliferative Syndrome (ALPS) and ALPS-associated Lymphoma Completed NCT00068146
12 Prevalence of Genetic Mutations in Patients With Neuropathy Associated With Anti-Myelin-associated Glycoprotein (MAG) Antibodies Completed NCT03268161
13 Study of Autoimmune Lymphoproliferative Syndrome (ALPS) Recruiting NCT00001350
14 Ascertainment of Families for Genetic Studies of Familial Lymphoproliferative Disorders Recruiting NCT00582621
15 Comparative Autoantibody and Immunologic Cell Marker Study Enrolling by invitation NCT02422875
16 Allogeneic Bone Marrow Transplantation in Patients With Primary Immunodeficiencies Terminated NCT00006054 Not Applicable anti-thymocyte globulin;busulfan;cyclophosphamide;cyclosporine;etoposide;methotrexate;methylprednisolone;prednisone
17 Fluorodeoxyglucose Imaging Studies to Detect Lymphoma Withdrawn NCT01672918

Search NIH Clinical Center for Lymphoproliferative Syndrome

Genetic Tests for Lymphoproliferative Syndrome

Genetic tests related to Lymphoproliferative Syndrome:

# Genetic test Affiliating Genes
1 Lymphoproliferative Syndrome 29
2 Lymphoproliferative Disorder 29

Anatomical Context for Lymphoproliferative Syndrome

MalaCards organs/tissues related to Lymphoproliferative Syndrome:

41
T Cells, Bone Marrow, Bone, B Cells, Kidney, Neutrophil, Spleen

Publications for Lymphoproliferative Syndrome

Articles related to Lymphoproliferative Syndrome:

(show top 50) (show all 259)
# Title Authors Year
1
The Autoimmune Lymphoproliferative Syndrome with Defective FAS or FAS-Ligand Functions. ( 29911256 )
2018
2
Possible Association of Multicentric Castleman's Disease with Autoimmune Lymphoproliferative Syndrome. ( 29682404 )
2018
3
Low-dose sirolimus in two cousins with autoimmune lymphoproliferative syndrome-associated infection. ( 29480551 )
2018
4
Gray platelet syndrome mimicking atypical autoimmune lymphoproliferative syndrome: the key is in the blood smear. ( 29903870 )
2018
5
Synergistic defects of novo FAS and homozygous UNC13D leading to autoimmune lymphoproliferative syndrome-like disease: A 10-year-old Chinese boy case report. ( 29864493 )
2018
6
Adaptive reprogramming of NK cells in X-linked lymphoproliferative syndrome. ( 29233820 )
2018
7
Autoimmune Lymphoproliferative Syndrome-FAS Patients Have an Abnormal Regulatory T Cell (Treg) Phenotype but Display Normal Natural Treg-Suppressive Function on T Cell Proliferation. ( 29686686 )
2018
8
Identification of a novel nonsense mutation in SH2D1A in a patient with X-linked lymphoproliferative syndrome type 1: a case report. ( 29649976 )
2018
9
Deficiency of ADA2 mimicking autoimmune lymphoproliferative syndrome in the absence of livedo reticularis and vasculitis. ( 29271561 )
2018
10
IgG4-related disease in autoimmune lymphoproliferative syndrome. ( 28478106 )
2017
11
TCF1 deficiency ameliorates autoimmune lymphoproliferative syndrome (ALPS)-like phenotypes of lpr/lpr mice. ( 28349581 )
2017
12
Lymphadenopathy driven by TCR-V<sub>I^</sub>8V<sub>I'</sub>1 T-cell expansion in FAS-related autoimmune lymphoproliferative syndrome. ( 29296752 )
2017
13
Novel insights into FAS defects underlying autoimmune lymphoproliferative syndrome revealed by studies in consanguineous patients. ( 29345341 )
2017
14
RASGRP1 mutation in autoimmune lymphoproliferative syndrome-like disease. ( 29155103 )
2017
15
STAT3 gain-of-function mutations associated with autoimmune lymphoproliferative syndrome like disease deregulate lymphocyte apoptosis and can be targeted by BH3 mimetic compounds. ( 28579554 )
2017
16
Novel Mutations in SH2D1A Gene in X-linked Lymphoproliferative Syndrome, Diagnosed After B-Cell Non-Hodgkin Lymphoma. ( 28267077 )
2017
17
Frequency of a FAS ligand gene variant associated with inherited feline autoimmune lymphoproliferative syndrome in British shorthair cats in New Zealand. ( 28814155 )
2017
18
Pearls and pitfalls: Autoimmune lymphoproliferative syndrome and autoimmune lymphoproliferative syndrome-like disease. ( 28668112 )
2017
19
Autoimmune lymphoproliferative syndrome caused by homozygous FAS mutations with normal or residual protein expression. ( 28087326 )
2017
20
A FAS-ligand variant associated with autoimmune lymphoproliferative syndrome in cats. ( 27770190 )
2017
21
Autoimmune Lymphoproliferative Syndrome Masquerading as Posttransplant Lymphoproliferative Disorder. ( 28991130 )
2017
22
Rare splicing defects of FAS underly severe recessive autoimmune lymphoproliferative syndrome. ( 28668589 )
2017
23
Use of Sirolimus (Rapamycin) for Treatment of Cytopenias and Lymphoproliferation Linked to Autoimmune Lymphoproliferative Syndrome (ALPS). Two Case Reports. ( 28234735 )
2017
24
Autoimmune lymphoproliferative syndrome: more than a FAScinating disease. ( 29123652 )
2017
25
Autoimmune Lymphoproliferative Syndrome: A Rare Cause of Disappearing HDL Syndrome. ( 27579193 )
2016
26
Optimal Management of Autoimmune Lymphoproliferative Syndrome in Children. ( 27139496 )
2016
27
CORRIGENDUM to Abnormal thymic maturation and lymphoproliferation in MRL-Faslpr/lpr mice can be partially reversed by synthetic oligonucleotides: implications for systemic lupus erythematosus and autoimmune lymphoproliferative syndrome. ( 27940897 )
2016
28
Severe hypersplenism associated to hemophagocytic and lymphoproliferative syndrome secondary to Epstein-Barr virus infection. A report of two cases. ( 27041246 )
2016
29
Evolution of disease activity and biomarkers on and off rapamycin in 28 patients with autoimmune lymphoproliferative syndrome. ( 27789675 )
2016
30
Ocular Inflammatory Disorders in Autoimmune Lymphoproliferative Syndrome (ALPS). ( 27229379 )
2016
31
XIAP deficiency and MEFV variants resulting in an autoinflammatory lymphoproliferative syndrome. ( 27681353 )
2016
32
Bone marrow findings in autoimmune lymphoproliferative syndrome with germline FAS mutation. ( 27846610 )
2016
33
Atypical presentation of autoimmune lymphoproliferative syndrome due to CASP10 mutation. ( 27378136 )
2016
34
Pulmonary Manifestations of the Autoimmune Lymphoproliferative Syndrome. A Retrospective Study of a Unique Patient Cohort. ( 27268092 )
2016
35
Autoimmune lymphoproliferative syndrome due to somatic FAS mutation (ALPS-sFAS) combined with a germline caspase-10 (CASP10) variation. ( 26323380 )
2016
36
Haploinsufficiency of TNFAIP3 (A20) by germline mutation is involved in autoimmune lymphoproliferative syndrome. ( 27845235 )
2016
37
Disturbed B-lymphocyte selection in autoimmune lymphoproliferative syndrome. ( 26907631 )
2016
38
Hyperactive mTOR pathway promotes lymphoproliferation and abnormal differentiation in autoimmune lymphoproliferative syndrome. ( 27099149 )
2016
39
Abnormal thymic maturation and lymphoproliferation in MRL-Faslpr/lpr mice can be partially reversed by synthetic oligonucleotides: implications for systemic lupus erythematosus and autoimmune lymphoproliferative syndrome. ( 27837196 )
2016
40
Variable clinical phenotypes of X-linked lymphoproliferative syndrome in China: Report of five cases with three novel mutations and review of the literature. ( 27288720 )
2016
41
Differential regulation of miR-146a/FAS and miR-21/FASLG axes in autoimmune lymphoproliferative syndrome due to FAS mutation (ALPS-FAS). ( 27060458 )
2016
42
Unexplained lymphadenopathies: autoimmune lymphoproliferative syndrome in an adult patient. ( 27979843 )
2016
43
Deregulation of Fas ligand expression as a novel cause of autoimmune lymphoproliferative syndrome-like disease. ( 26113417 )
2015
44
Decreased activation-induced cell death by EBV-transformed B cells from a patient with autoimmune lymphoproliferative syndrome caused by a novel FASLG mutation. ( 26334989 )
2015
45
Autoimmune lymphoproliferative syndrome-like disease in patients with LRBA mutation. ( 25931386 )
2015
46
Approaches to Managing Autoimmune Cytopenias in Novel Immunological Disorders with Genetic Underpinnings Like Autoimmune Lymphoproliferative Syndrome. ( 26258116 )
2015
47
Janus Kinase Inhibitor Tofacitinib Shows Potent Efficacy in a Mouse Model of Autoimmune Lymphoproliferative Syndrome (ALPS). ( 26453583 )
2015
48
FAS Haploinsufficiency Caused by Extracellular Missense Mutations Underlying Autoimmune Lymphoproliferative Syndrome. ( 26563159 )
2015
49
Autoimmune lymphoproliferative syndrome caused by a homozygous FasL mutation that disrupts FasL assembly. ( 26456038 )
2015
50
Updated Understanding of Autoimmune Lymphoproliferative Syndrome (ALPS). ( 25663566 )
2015

Variations for Lymphoproliferative Syndrome

ClinVar genetic disease variations for Lymphoproliferative Syndrome:

6
(show top 50) (show all 292)
# Gene Variation Type Significance SNP ID Assembly Location
1 XIAP NM_001167.3(XIAP): c.1268A> C (p.Gln423Pro) single nucleotide variant Benign rs5956583 GRCh37 Chromosome X, 123034511: 123034511
2 XIAP NM_001167.3(XIAP): c.1268A> C (p.Gln423Pro) single nucleotide variant Benign rs5956583 GRCh38 Chromosome X, 123900661: 123900661
3 ITK NM_005546.3(ITK): c.237G> A (p.Pro79=) single nucleotide variant Conflicting interpretations of pathogenicity rs201403794 GRCh37 Chromosome 5, 156635998: 156635998
4 ITK NM_005546.3(ITK): c.237G> A (p.Pro79=) single nucleotide variant Conflicting interpretations of pathogenicity rs201403794 GRCh38 Chromosome 5, 157208987: 157208987
5 ITK NM_005546.3(ITK): c.244-8G> A single nucleotide variant Uncertain significance rs199759038 GRCh37 Chromosome 5, 156638290: 156638290
6 ITK NM_005546.3(ITK): c.244-8G> A single nucleotide variant Uncertain significance rs199759038 GRCh38 Chromosome 5, 157211279: 157211279
7 ITK NM_005546.3(ITK): c.495+12C> T single nucleotide variant Uncertain significance rs376728021 GRCh37 Chromosome 5, 156644929: 156644929
8 ITK NM_005546.3(ITK): c.495+12C> T single nucleotide variant Uncertain significance rs376728021 GRCh38 Chromosome 5, 157217919: 157217919
9 ITK NM_005546.3(ITK): c.571G> A (p.Ala191Thr) single nucleotide variant Uncertain significance rs534229766 GRCh37 Chromosome 5, 156649948: 156649948
10 ITK NM_005546.3(ITK): c.571G> A (p.Ala191Thr) single nucleotide variant Uncertain significance rs534229766 GRCh38 Chromosome 5, 157222938: 157222938
11 ITK NM_005546.3(ITK): c.625_627delTGG (p.Trp209del) deletion Uncertain significance rs886060325 GRCh37 Chromosome 5, 156650002: 156650004
12 ITK NM_005546.3(ITK): c.625_627delTGG (p.Trp209del) deletion Uncertain significance rs886060325 GRCh38 Chromosome 5, 157222992: 157222994
13 ITK NM_005546.3(ITK): c.769-13C> T single nucleotide variant Benign/Likely benign rs56100638 GRCh37 Chromosome 5, 156665106: 156665106
14 ITK NM_005546.3(ITK): c.769-13C> T single nucleotide variant Benign/Likely benign rs56100638 GRCh38 Chromosome 5, 157238096: 157238096
15 ITK NM_005546.3(ITK): c.1060G> A (p.Gly354Arg) single nucleotide variant Uncertain significance rs886060327 GRCh37 Chromosome 5, 156668730: 156668730
16 ITK NM_005546.3(ITK): c.1060G> A (p.Gly354Arg) single nucleotide variant Uncertain significance rs886060327 GRCh38 Chromosome 5, 157241720: 157241720
17 ITK NM_005546.3(ITK): c.1060+12A> C single nucleotide variant Uncertain significance rs765303299 GRCh37 Chromosome 5, 156668742: 156668742
18 ITK NM_005546.3(ITK): c.1060+12A> C single nucleotide variant Uncertain significance rs765303299 GRCh38 Chromosome 5, 157241732: 157241732
19 ITK NM_005546.3(ITK): c.1119A> G (p.Gln373=) single nucleotide variant Uncertain significance rs189091977 GRCh37 Chromosome 5, 156670691: 156670691
20 ITK NM_005546.3(ITK): c.1119A> G (p.Gln373=) single nucleotide variant Uncertain significance rs189091977 GRCh38 Chromosome 5, 157243681: 157243681
21 ITK NM_005546.3(ITK): c.1276C> T (p.Leu426=) single nucleotide variant Uncertain significance rs145991142 GRCh38 Chromosome 5, 157244305: 157244305
22 ITK NM_005546.3(ITK): c.1276C> T (p.Leu426=) single nucleotide variant Uncertain significance rs145991142 GRCh37 Chromosome 5, 156671315: 156671315
23 ITK NM_005546.3(ITK): c.1741C> T (p.Arg581Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs34482255 GRCh38 Chromosome 5, 157248957: 157248957
24 ITK NM_005546.3(ITK): c.1741C> T (p.Arg581Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs34482255 GRCh37 Chromosome 5, 156675967: 156675967
25 ITK NM_005546.3(ITK): c.*140C> T single nucleotide variant Uncertain significance rs536343015 GRCh38 Chromosome 5, 157252818: 157252818
26 ITK NM_005546.3(ITK): c.*140C> T single nucleotide variant Uncertain significance rs536343015 GRCh37 Chromosome 5, 156679828: 156679828
27 ITK NM_005546.3(ITK): c.*804T> C single nucleotide variant Uncertain significance rs139794260 GRCh37 Chromosome 5, 156680492: 156680492
28 ITK NM_005546.3(ITK): c.*804T> C single nucleotide variant Uncertain significance rs139794260 GRCh38 Chromosome 5, 157253482: 157253482
29 ITK NM_005546.3(ITK): c.*997A> G single nucleotide variant Benign rs27988 GRCh37 Chromosome 5, 156680685: 156680685
30 ITK NM_005546.3(ITK): c.*997A> G single nucleotide variant Benign rs27988 GRCh38 Chromosome 5, 157253675: 157253675
31 ITK NM_005546.3(ITK): c.*1171G> C single nucleotide variant Uncertain significance rs886060331 GRCh37 Chromosome 5, 156680859: 156680859
32 ITK NM_005546.3(ITK): c.*1171G> C single nucleotide variant Uncertain significance rs886060331 GRCh38 Chromosome 5, 157253849: 157253849
33 ITK NM_005546.3(ITK): c.*1188A> G single nucleotide variant Likely benign rs17054397 GRCh37 Chromosome 5, 156680876: 156680876
34 ITK NM_005546.3(ITK): c.*1188A> G single nucleotide variant Likely benign rs17054397 GRCh38 Chromosome 5, 157253866: 157253866
35 ITK NM_005546.3(ITK): c.*1866C> T single nucleotide variant Uncertain significance rs111629533 GRCh37 Chromosome 5, 156681554: 156681554
36 ITK NM_005546.3(ITK): c.*1866C> T single nucleotide variant Uncertain significance rs111629533 GRCh38 Chromosome 5, 157254544: 157254544
37 ITK NM_005546.3(ITK): c.*1928G> A single nucleotide variant Uncertain significance rs886060334 GRCh37 Chromosome 5, 156681616: 156681616
38 ITK NM_005546.3(ITK): c.*1928G> A single nucleotide variant Uncertain significance rs886060334 GRCh38 Chromosome 5, 157254606: 157254606
39 ITK NM_005546.3(ITK): c.139-6C> T single nucleotide variant Uncertain significance rs780173849 GRCh38 Chromosome 5, 157208883: 157208883
40 ITK NM_005546.3(ITK): c.-32C> A single nucleotide variant Likely benign rs148134638 GRCh37 Chromosome 5, 156607957: 156607957
41 ITK NM_005546.3(ITK): c.-32C> A single nucleotide variant Likely benign rs148134638 GRCh38 Chromosome 5, 157180946: 157180946
42 ITK NM_005546.3(ITK): c.139-6C> T single nucleotide variant Uncertain significance rs780173849 GRCh37 Chromosome 5, 156635894: 156635894
43 ITK NM_005546.3(ITK): c.496-4C> G single nucleotide variant Uncertain significance rs749411240 GRCh37 Chromosome 5, 156649869: 156649869
44 ITK NM_005546.3(ITK): c.496-4C> G single nucleotide variant Uncertain significance rs749411240 GRCh38 Chromosome 5, 157222859: 157222859
45 ITK NM_005546.3(ITK): c.578G> A (p.Arg193Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs17054374 GRCh37 Chromosome 5, 156649955: 156649955
46 ITK NM_005546.3(ITK): c.578G> A (p.Arg193Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs17054374 GRCh38 Chromosome 5, 157222945: 157222945
47 ITK NM_005546.3(ITK): c.769-10A> T single nucleotide variant Benign/Likely benign rs55646940 GRCh38 Chromosome 5, 157238099: 157238099
48 ITK NM_005546.3(ITK): c.769-10A> T single nucleotide variant Benign/Likely benign rs55646940 GRCh37 Chromosome 5, 156665109: 156665109
49 ITK NM_005546.3(ITK): c.1039G> A (p.Val347Ile) single nucleotide variant Uncertain significance rs886060326 GRCh37 Chromosome 5, 156668709: 156668709
50 ITK NM_005546.3(ITK): c.1039G> A (p.Val347Ile) single nucleotide variant Uncertain significance rs886060326 GRCh38 Chromosome 5, 157241699: 157241699

Expression for Lymphoproliferative Syndrome

Search GEO for disease gene expression data for Lymphoproliferative Syndrome.

Pathways for Lymphoproliferative Syndrome

Pathways related to Lymphoproliferative Syndrome according to GeneCards Suite gene sharing:

(show top 50) (show all 70)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.92 CASP10 CASP8 CD27 CTLA4 FASLG IL2
2
Show member pathways
13.89 CASP10 CASP8 FAS FASLG IL2 IL2RA
3
Show member pathways
13.7 CASP10 CASP8 CD27 FAS FASLG IL2
4
Show member pathways
13.46 CTLA4 INPP5D ITK NRAS PTPN11 PTPRC
5
Show member pathways
13.42 CD27 FAS FASLG IL2 IL2RA ITK
6
Show member pathways
13.38 CD27 FASLG IL2 IL2RA INPP5D NRAS
7
Show member pathways
13.34 CD244 IL2 IL2RA INPP5D NRAS PRKCD
8
Show member pathways
13.06 CASP10 CASP8 CD27 FAS FASLG IL2
9
Show member pathways
13.03 CASP8 FAS FASLG IL2 PRKCD XIAP
10
Show member pathways
13 CASP8 FAS FASLG IL2 IL2RA NRAS
11
Show member pathways
12.91 IL2 IL2RA INPP5D PRKCD PTPN11
12
Show member pathways
12.89 CASP10 CASP8 CD27 FAS FASLG INPP5D
13
Show member pathways
12.88 FAS FASLG ITK NRAS PRKCD
14
Show member pathways
12.84 CASP10 CASP8 FAS FASLG NRAS PTPRC
15 12.82 CASP8 FAS FASLG IL2 IL2RA NRAS
16 12.81 CASP8 FAS FASLG NRAS PRKCD SH2D1A
17
Show member pathways
12.8 IL2 IL2RA NRAS PRKCD PTPRC
18
Show member pathways
12.78 CASP10 CASP8 CD27 FAS FASLG NRAS
19
Show member pathways
12.78 CASP8 CTLA4 FAS FASLG IL2 IL2RA
20
Show member pathways
12.76 FAS FASLG NRAS PRKCD PTPN11 XIAP
21
Show member pathways
12.72 CASP10 CASP8 FAS FASLG XIAP
22
Show member pathways
12.69 CD27 FAS FASLG NRAS PRKCD
23
Show member pathways
12.69 CASP8 FAS FASLG IL2 IL2RA PTPN11
24
Show member pathways
12.62 INPP5D ITK NRAS PTPN11 PTPRC
25
Show member pathways
12.6 CASP10 CASP8 FAS FASLG NRAS
26
Show member pathways
12.57 CASP10 CASP8 NRAS PRKCD XIAP
27
Show member pathways
12.5 CASP10 CASP8 FAS FASLG
28
Show member pathways
12.44 INPP5D NRAS PRKCD PTPN11
29 12.43 IL2 IL2RA NRAS XIAP
30
Show member pathways
12.43 INPP5D NRAS PRKCD PTPN11 PTPRC
31
Show member pathways
12.39 CASP10 CASP8 IL2 IL2RA NRAS PRKCD
32
Show member pathways
12.38 CASP10 CASP8 FAS FASLG XIAP
33
Show member pathways
12.35 NRAS PRKCD PTPN11 PTPRC
34
Show member pathways
12.34 CASP10 CASP8 FAS FASLG XIAP
35 12.32 FAS FASLG NRAS PTPN11
36
Show member pathways
12.31 CTLA4 IL2 IL2RA ITK PRKCD PTPRC
37
Show member pathways
12.28 CASP10 CASP8 FAS FASLG
38 12.26 CASP8 FAS FASLG PTPN11 XIAP
39
Show member pathways
12.25 CD244 INPP5D NRAS PTPN11
40
Show member pathways
12.24 CASP8 FAS FASLG XIAP
41
Show member pathways
12.23 CD244 FAS FASLG IL2 INPP5D NRAS
42
Show member pathways
12.22 CASP8 IL2 NRAS PRKCD PTPN11
43
Show member pathways
12.21 CASP10 CASP8 FAS FASLG XIAP
44
Show member pathways
12.1 IL2 IL2RA NRAS PRKCD PTPN11 XIAP
45
Show member pathways
12.06 CASP10 CASP8 NRAS PRKCD
46
Show member pathways
12 IL2 IL2RA INPP5D PTPN11
47
Show member pathways
11.97 FASLG IL2 IL2RA
48
Show member pathways
11.97 CTLA4 FAS IL2 ITK NRAS PRKCD
49
Show member pathways
11.95 ITK PTPN11 PTPRC
50
Show member pathways
11.95 ITK PTPN11 PTPRC

GO Terms for Lymphoproliferative Syndrome

Cellular components related to Lymphoproliferative Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 9.7 CD27 FAS FASLG IL2RA LY9 PTPRC
2 membrane raft GO:0045121 9.65 CASP8 FAS FASLG INPP5D PTPRC
3 external side of plasma membrane GO:0009897 9.43 CD244 CD27 CTLA4 FASLG IL2RA PTPRC
4 death-inducing signaling complex GO:0031264 9.37 CASP8 FAS
5 ripoptosome GO:0097342 9.32 CASP10 CASP8
6 CD95 death-inducing signaling complex GO:0031265 8.8 CASP10 CASP8 FAS
7 plasma membrane GO:0005886 10.18 CD244 CD27 CTLA4 FAS FASLG IL2RA

Biological processes related to Lymphoproliferative Syndrome according to GeneCards Suite gene sharing:

(show all 33)
# Name GO ID Score Top Affiliating Genes
1 cytokine-mediated signaling pathway GO:0019221 9.97 FASLG IL2 IL2RA INPP5D PTPN11
2 regulation of cell proliferation GO:0042127 9.93 CD27 FAS ITK XIAP
3 cell surface receptor signaling pathway GO:0007166 9.93 CASP10 CASP8 CD27 IL2RA PTPRC
4 leukocyte migration GO:0050900 9.91 CD244 INPP5D NRAS PTPN11
5 immune response GO:0006955 9.91 CD244 CD27 CTLA4 FAS FASLG IL2
6 response to lipopolysaccharide GO:0032496 9.9 CASP8 CD27 FAS FASLG
7 response to ethanol GO:0045471 9.83 CASP8 CD27 IL2
8 negative regulation of inflammatory response GO:0050728 9.83 IL2 IL2RA PRKCD
9 B cell receptor signaling pathway GO:0050853 9.82 CTLA4 ITK PTPRC
10 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.81 CASP10 CASP8 FAS FASLG
11 cellular response to mechanical stimulus GO:0071260 9.79 CASP8 FAS PTPN11
12 positive regulation of T cell proliferation GO:0042102 9.78 IL2 IL2RA PTPRC
13 execution phase of apoptosis GO:0097194 9.75 CASP10 CASP8 PRKCD
14 negative regulation of extrinsic apoptotic signaling pathway via death domain receptors GO:1902042 9.73 CASP8 FAS FASLG
15 adaptive immune response GO:0002250 9.73 CD244 CTLA4 IL2 ITK SH2D1A SLAMF1
16 negative regulation of immune response GO:0050777 9.7 CTLA4 IL2RA INPP5D
17 positive regulation of T cell differentiation GO:0045582 9.67 CD27 IL2 IL2RA
18 negative regulation of B cell proliferation GO:0030889 9.65 CTLA4 INPP5D
19 regulation of extrinsic apoptotic signaling pathway via death domain receptors GO:1902041 9.65 CASP8 FAS FASLG
20 positive regulation of B cell differentiation GO:0045579 9.64 CD27 INPP5D
21 positive regulation of interleukin-17 production GO:0032740 9.63 IL2 LY9
22 regulation of regulatory T cell differentiation GO:0045589 9.63 CTLA4 IL2 IL2RA
23 interleukin-2-mediated signaling pathway GO:0038110 9.62 IL2 IL2RA
24 extrinsic apoptotic signaling pathway GO:0097191 9.62 CASP8 CD27 FAS FASLG
25 activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway GO:0097296 9.61 CASP8 FAS FASLG
26 negative regulation of lymphocyte proliferation GO:0050672 9.59 IL2 IL2RA
27 necroptotic signaling pathway GO:0097527 9.58 FAS FASLG
28 immunoglobulin mediated immune response GO:0016064 9.58 CD27 INPP5D PRKCD
29 immune system process GO:0002376 9.56 CD244 CTLA4 IL2 IL2RA ITK LY9
30 regulation of T cell homeostatic proliferation GO:0046013 9.55 IL2 IL2RA
31 apoptotic signaling pathway GO:0097190 9.55 CASP10 CASP8 CD27 FAS FASLG
32 apoptotic process GO:0006915 9.28 CASP10 CASP8 CD27 FAS FASLG IL2RA
33 innate immune response GO:0045087 10.04 CD244 ITK LY9 SH2D1A SLAMF1

Molecular functions related to Lymphoproliferative Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.58 CASP10 CASP8 CD244 CD27 CTLA4 FAS
2 cysteine-type endopeptidase activity involved in apoptotic process GO:0097153 9.4 CASP10 CASP8
3 death receptor binding GO:0005123 9.37 CASP8 FASLG
4 cysteine-type endopeptidase activity involved in execution phase of apoptosis GO:0097200 9.32 CASP10 CASP8
5 insulin receptor substrate binding GO:0043560 9.26 PRKCD PTPN11
6 cysteine-type endopeptidase activity involved in apoptotic signaling pathway GO:0097199 9.16 CASP10 CASP8
7 death effector domain binding GO:0035877 8.96 CASP10 CASP8

Sources for Lymphoproliferative Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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