Lymphoproliferative Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: LYM033 MIFTS: 55	Lymphoproliferative Syndrome Categories: Immune diseases, Genetic diseases, Rare diseases, Blood diseases, Gastrointestinal diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs Download Expand all tables

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Immune diseases Blood diseases Gastrointestinal diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0060704

UMLS ⁷³ C0024314

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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

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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:

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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

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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

Mycophenolate mofetil

Approved, Investigational

Phase 4,Phase 3

128794-94-5

5281078

Mycophenolic acid

Approved

Phase 4,Phase 3

24280-93-1

446541

Vaccines

Phase 4

Anti-Infective Agents

Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable

Anti-Bacterial Agents

Phase 4,Phase 3,Phase 1,Phase 2

Antibiotics, Antitubercular

Phase 4,Phase 3,Phase 1,Phase 2

Antitubercular Agents

Phase 4,Phase 3

Miconazole

Approved, Investigational, Vet_approved

Phase 3,Phase 1,Phase 2,Not Applicable

22916-47-8

4189

Benzocaine

Approved, Investigational

Phase 3

1994-09-7, 94-09-7

2337

Everolimus

Approved

Phase 3,Phase 1,Phase 2

159351-69-6

6442177

Methylprednisolone

Approved, Vet_approved

Phase 3,Not Applicable

83-43-2

6741

Prednisolone

Approved, Vet_approved

Phase 3,Not Applicable

50-24-8

5755

Sirolimus

Approved, Investigational

Phase 3,Phase 1,Phase 2

53123-88-9

5284616 6436030 46835353

tannic acid

Approved, Nutraceutical

Phase 3

Antifungal Agents

Phase 3,Phase 1,Phase 2,Not Applicable

Antirheumatic Agents

Phase 3,Not Applicable

Calcineurin Inhibitors

Phase 3,Not Applicable

Cyclosporins

Phase 3,Not Applicable

Dermatologic Agents

Phase 3,Not Applicable

Immunosuppressive Agents

Phase 3,Phase 2,Phase 1,Not Applicable

Antibodies

Phase 3

Antiemetics

Phase 3,Not Applicable

Anti-Inflammatory Agents

Phase 3,Not Applicable

Antineoplastic Agents, Hormonal

Phase 3,Not Applicable

Autonomic Agents

Phase 3,Not Applicable

Gastrointestinal Agents

Phase 3,Not Applicable

glucocorticoids

Phase 3,Not Applicable

Hormone Antagonists

Phase 3,Not Applicable

Hormones

Phase 3,Not Applicable

Hormones, Hormone Substitutes, and Hormone Antagonists

Phase 3,Not Applicable

Immunoglobulin G

Phase 3

Immunoglobulins

Phase 3

Methylprednisolone acetate

Phase 3,Not Applicable

Methylprednisolone Hemisuccinate

Phase 3,Not Applicable

Neuroprotective Agents

Phase 3,Not Applicable

Peripheral Nervous System Agents

Phase 3,Not Applicable

Prednisolone acetate

Phase 3,Not Applicable

Prednisolone hemisuccinate

Phase 3,Not Applicable

Prednisolone phosphate

Phase 3,Not Applicable

Protective Agents

Phase 3,Not Applicable

Valproic Acid

Approved, Investigational

Phase 1, Phase 2

99-66-1

3121

alemtuzumab

Approved, Investigational

Phase 2

216503-57-0

Fludarabine

Approved

Phase 2

21679-14-1, 75607-67-9

30751

Melphalan

Approved

Phase 2

148-82-3

4053 460612

Thiotepa

Approved, Investigational

Phase 2

52-24-4

5453

Hydroxyurea

Approved

Phase 2

127-07-1

3657

Alkylating Agents

Phase 2,Not Applicable

Antimetabolites

Phase 2,Not Applicable

Antimetabolites, Antineoplastic

Phase 2,Not Applicable

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

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Genetic Tests for Lymphoproliferative Syndrome

Genetic tests related to Lymphoproliferative Syndrome:

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

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Anatomical Context for Lymphoproliferative Syndrome

MalaCards organs/tissues related to Lymphoproliferative Syndrome:

⁴¹

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

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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 )	Rieux-Laucat F....Neven B.	2018
2	Possible Association of Multicentric Castleman's Disease with Autoimmune Lymphoproliferative Syndrome. ( 29682404 )	Minemura H....Ikeda K.	2018
3	Low-dose sirolimus in two cousins with autoimmune lymphoproliferative syndrome-associated infection. ( 29480551 )	Nocerino A....Tommasini A.	2018
4	Gray platelet syndrome mimicking atypical autoimmune lymphoproliferative syndrome: the key is in the blood smear. ( 29903870 )	Steinberg-Shemer O....Tamary H.	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 )	Gu H....Wu R.	2018
6	Adaptive reprogramming of NK cells in X-linked lymphoproliferative syndrome. ( 29233820 )	Opat S....Voskoboinik I.	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 )	Mazerolles F....Rieux-Laucat F.	2018
8	Identification of a novel nonsense mutation in SH2D1A in a patient with X-linked lymphoproliferative syndrome type 1: a case report. ( 29649976 )	Lyu X....Song Y.	2018
9	Deficiency of ADA2 mimicking autoimmune lymphoproliferative syndrome in the absence of livedo reticularis and vasculitis. ( 29271561 )	Alsultan A....Alfadhel M.	2018
10	IgG4-related disease in autoimmune lymphoproliferative syndrome. ( 28478106 )	van de Ven A.A.J.M....Kollert F.	2017
11	TCF1 deficiency ameliorates autoimmune lymphoproliferative syndrome (ALPS)-like phenotypes of lpr/lpr mice. ( 28349581 )	Xu X....Huang Z.	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 )	Vavassori S....Pachlopnik Schmid J.	2017
13	Novel insights into FAS defects underlying autoimmune lymphoproliferative syndrome revealed by studies in consanguineous patients. ( 29345341 )	Ben-Mustapha I....Barbouche M.R.	2017
14	RASGRP1 mutation in autoimmune lymphoproliferative syndrome-like disease. ( 29155103 )	Mao H....Lau Y.L.	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 )	Nabhani S....Fischer U.	2017
16	Novel Mutations in SH2D1A Gene in X-linked Lymphoproliferative Syndrome, Diagnosed After B-Cell Non-Hodgkin Lymphoma. ( 28267077 )	Sharapova S.O....Aleinikova O.V.	2017
17	Frequency of a FAS ligand gene variant associated with inherited feline autoimmune lymphoproliferative syndrome in British shorthair cats in New Zealand. ( 28814155 )	Aberdein D....Lyons L.A.	2017
18	Pearls and pitfalls: Autoimmune lymphoproliferative syndrome and autoimmune lymphoproliferative syndrome-like disease. ( 28668112 )	Bartels A.K....Bay J.L.	2017
19	Autoimmune lymphoproliferative syndrome caused by homozygous FAS mutations with normal or residual protein expression. ( 28087326 )	Agrebi N....Ben-Mustapha I.	2017
20	A FAS-ligand variant associated with autoimmune lymphoproliferative syndrome in cats. ( 27770190 )	Aberdein D....Lyons L.A.	2017
21	Autoimmune Lymphoproliferative Syndrome Masquerading as Posttransplant Lymphoproliferative Disorder. ( 28991130 )	Jeffreys S.M....Crary S.E.	2017
22	Rare splicing defects of FAS underly severe recessive autoimmune lymphoproliferative syndrome. ( 28668589 )	Agrebi N....Barbouche M.R.	2017
23	Use of Sirolimus (Rapamycin) for Treatment of Cytopenias and Lymphoproliferation Linked to Autoimmune Lymphoproliferative Syndrome (ALPS). Two Case Reports. ( 28234735 )	Cayrol J....Garrido Colino C.	2017
24	Autoimmune lymphoproliferative syndrome: more than a FAScinating disease. ( 29123652 )	Bride K....Teachey D.	2017
25	Autoimmune Lymphoproliferative Syndrome: A Rare Cause of Disappearing HDL Syndrome. ( 27579193 )	Sriram S....Kumar S.	2016
26	Optimal Management of Autoimmune Lymphoproliferative Syndrome in Children. ( 27139496 )	George L.A....Teachey D.T.	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 )	Alejandre C....Jordan I.	2016
29	Evolution of disease activity and biomarkers on and off rapamycin in 28 patients with autoimmune lymphoproliferative syndrome. ( 27789675 )	Klemann C....Neven B.	2016
30	Ocular Inflammatory Disorders in Autoimmune Lymphoproliferative Syndrome (ALPS). ( 27229379 )	Ucar D....Sen H.N.	2016
31	XIAP deficiency and MEFV variants resulting in an autoinflammatory lymphoproliferative syndrome. ( 27681353 )	Christiansen M....Mogensen T.H.	2016
32	Bone marrow findings in autoimmune lymphoproliferative syndrome with germline FAS mutation. ( 27846610 )	Xie Y....Maric I.	2016
33	Atypical presentation of autoimmune lymphoproliferative syndrome due to CASP10 mutation. ( 27378136 )	Tripodi S.I....Badolato R.	2016
34	Pulmonary Manifestations of the Autoimmune Lymphoproliferative Syndrome. A Retrospective Study of a Unique Patient Cohort. ( 27268092 )	Lau C.Y....Olivier K.N.	2016
35	Autoimmune lymphoproliferative syndrome due to somatic FAS mutation (ALPS-sFAS) combined with a germline caspase-10 (CASP10) variation. ( 26323380 )	MartA-nez-Feito A....Allende L.M.	2016
36	Haploinsufficiency of TNFAIP3 (A20) by germline mutation is involved in autoimmune lymphoproliferative syndrome. ( 27845235 )	Takagi M....Morio T.	2016
37	Disturbed B-lymphocyte selection in autoimmune lymphoproliferative syndrome. ( 26907631 )	Janda A....Rizzi M.	2016
38	Hyperactive mTOR pathway promotes lymphoproliferation and abnormal differentiation in autoimmune lymphoproliferative syndrome. ( 27099149 )	VAPlkl S....Mackensen A.	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 )	Ashman R.F....Lenert P.S.	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 )	Jin Y.Y....Chen T.X.	2016
41	Differential regulation of miR-146a/FAS and miR-21/FASLG axes in autoimmune lymphoproliferative syndrome due to FAS mutation (ALPS-FAS). ( 27060458 )	Marega L.F....Vilela M.M.	2016
42	Unexplained lymphadenopathies: autoimmune lymphoproliferative syndrome in an adult patient. ( 27979843 )	Leal-Seabra F....Oliveira A.	2016
43	Deregulation of Fas ligand expression as a novel cause of autoimmune lymphoproliferative syndrome-like disease. ( 26113417 )	Nabhani S....Fischer U.	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 )	Ruiz-GarcA-a R....Allende L.M.	2015
45	Autoimmune lymphoproliferative syndrome-like disease in patients with LRBA mutation. ( 25931386 )	Revel-Vilk S....Stepensky P.	2015
46	Approaches to Managing Autoimmune Cytopenias in Novel Immunological Disorders with Genetic Underpinnings Like Autoimmune Lymphoproliferative Syndrome. ( 26258116 )	Rao V.K.	2015
47	Janus Kinase Inhibitor Tofacitinib Shows Potent Efficacy in a Mouse Model of Autoimmune Lymphoproliferative Syndrome (ALPS). ( 26453583 )	Yokoyama S....Perera L.P.	2015
48	FAS Haploinsufficiency Caused by Extracellular Missense Mutations Underlying Autoimmune Lymphoproliferative Syndrome. ( 26563159 )	de Bielke M.G....Danielian S.	2015
49	Autoimmune lymphoproliferative syndrome caused by a homozygous FasL mutation that disrupts FasL assembly. ( 26456038 )	Sobh A....Massaad M.J.	2015
50	Updated Understanding of Autoimmune Lymphoproliferative Syndrome (ALPS). ( 25663566 )	Li P....Li F.	2015

Sources

Genes for Lymphoproliferative Syndrome

Genes related to Lymphoproliferative Syndrome (0 elite genes):

(show all 19)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	SH2D1A	SH2 Domain Containing 1A	Protein Coding	88.03	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Publications Gene name Summaries Variants (show sections)	16105760 19738428 19759517 (more) 12629654 11159547 19570996 16720617 11049992 10691868 11803050 12152986 15245368 17171759 17302894 18815745 12766168 19079134 11689425 10694488 19398375 18843362 17301392 16788096 15661030 20080127 19595300 15632210 15169881 12447665 11493483 10934222 17201683 17202343 19874894 18031694 16328363 16177062 12966553 12358924 11477068 10556288 16983070 16823987 15459902 14726378 11414741 11323694 11313386 12704588 11489943 12242590 15841490 18223336 9774102 10970095
2	FAS	Fas Cell Surface Death Receptor	Protein Coding	57.83	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Publications Variants (show sections)	10410268 9533447 16537120 (more) 14565931 9845544 10720140 10786813 10505674 7572793 9440553 19265119 8929361 9609991 9108407 10887130 7533326 10807785 12846062 10487849 7539157 10515860 12655301 8806292
3	XIAP	X-Linked Inhibitor Of Apoptosis	Protein Coding	55.15	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
4	CASP10	Caspase 10	Protein Coding	52.9	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
5	FASLG	Fas Ligand	Protein Coding	47.08	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Publications Variants (show sections)	10410268 9845544 10786813 (more) 16627752 9609991 19265119
6	PRKCD	Protein Kinase C Delta	Protein Coding	46.36	GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
7	CD27	CD27 Molecule	Protein Coding	41.74	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
8	CD244	CD244 Molecule	Protein Coding	34.89	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	11815622 11093147 11489943
9	ITK	IL2 Inducible T Cell Kinase	Protein Coding	32.65	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)
10	CTLA4	Cytotoxic T-Lymphocyte Associated Protein 4	Protein Coding	31.58	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)
11	CASP8	Caspase 8	Protein Coding	29.55	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications (show sections)
12	IL2	Interleukin 2	Protein Coding	28.3	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	8698322 9090492 12910372 (more) 8329708 8605349 1394125 11560958 18684941 10087947 10196263 1700727 9021695 1835747
13	IL2RA	Interleukin 2 Receptor Subunit Alpha	Protein Coding	27.75	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	2146981 8329708 8340084 (more) 1989787 15691216 2036217 1835747 15717691 1394125 7948318 18684941
14	PTPRC	Protein Tyrosine Phosphatase, Receptor Type C	Protein Coding	27.16	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	7680734 11241503 15712182
15	INPP5D	Inositol Polyphosphate-5-Phosphatase D	Protein Coding	27.14	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	11313386 10229804
16	SLAMF1	Signaling Lymphocytic Activation Molecule Family Member 1	Protein Coding	26.95	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	14523387 12766168 11313386 (more) 10229804
17	PTPN11	Protein Tyrosine Phosphatase, Non-Receptor Type 11	Protein Coding	26.8	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	11313386
18	NRAS	NRAS Proto-Oncogene, GTPase	Protein Coding	26.09	GeneCards inferred via : Publications Summaries (show sections)
19	LY9	Lymphocyte Antigen 9	Protein Coding	24.71	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	12242590

Sources

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

Sources

Expression for Lymphoproliferative Syndrome

Search GEO for disease gene expression data for Lymphoproliferative Syndrome.

Sources

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	Innate Immune System ⁶⁶ Show member pathways Immune System ⁶⁶ Neutrophil degranulation ⁶⁶	13.92	CASP10 CASP8 CD27 CTLA4 FASLG IL2
2	Apoptotic Pathways in Synovial Fibroblasts ⁶⁴ Show member pathways Actin-Based Motility by Rho Family GTPases ⁶⁴ Cellular Apoptosis Pathway ⁶⁴ DHA Signaling ⁶⁴ eIF2 Pathway ⁶⁴ ERK5 Signaling ⁶⁴ Glioma Invasiveness ⁶⁴ Mitochondrial Apoptosis ⁶⁴ Nuclear Receptor Activation by Vitamin-A ⁶⁴ p53 Mediated Apoptosis ⁶⁴ PPAR Pathway ⁶⁴ Rac1 Pathway ⁶⁴ Rap1 Pathway ⁶⁴ Telomerase Components in Cell Signaling ⁶⁴	13.89	CASP10 CASP8 FAS FASLG IL2 IL2RA
3	PEDF Induced Signaling ⁶⁴ Show member pathways all-trans-Retinoic Acid Signaling in Brain ⁶⁴ Cytokine-cytokine receptor interaction ³⁷ Endothelin-1 Signaling Pathway ⁶⁴ Glucocorticoid Receptor Signaling ⁶⁴ IL-6 Pathway ⁶⁴ MIF Mediated Glucocorticoid Regulation ⁶⁴ MIF Regulation of Innate Immune Cells ⁶⁴ NFAT Signaling and Lymphocyte Interactions ⁶⁴ PGC1Alpha Pathway ⁶⁴ RAR-Gamma-RXR-Alpha Degradation ⁶⁴ STAT3 Pathway ⁶⁴	13.7	CASP10 CASP8 CD27 FAS FASLG IL2
4	Class I MHC mediated antigen processing and presentation ⁶⁶ Show member pathways Adaptive Immune System ⁶⁶ Antigen processing- Ubiquitination and Proteasome degradation ⁶⁶	13.46	CTLA4 INPP5D ITK NRAS PTPN11 PTPRC
5	Akt Signaling ⁶⁴ Show member pathways p38 Signaling ⁶⁴ Tec Kinases Signaling ⁶⁴	13.42	CD27 FAS FASLG IL2 IL2RA ITK
6	Cytokine Signaling in Immune system ⁶⁶ Show member pathways Signaling by Interleukins ⁶⁶	13.38	CD27 FASLG IL2 IL2RA INPP5D NRAS
7	Response to elevated platelet cytosolic Ca2+ ⁶⁶ Show member pathways Disinhibition of SNARE formation ⁶⁶ Hemostasis ⁶⁶ Platelet activation, signaling and aggregation ⁶⁶ Platelet degranulation ⁶⁶	13.34	CD244 IL2 IL2RA INPP5D NRAS PRKCD
8	PAK Pathway ⁶⁴ Show member pathways Antioxidant Action of Vitamin-C ⁶⁴ Epithelial Adherens Junctions ⁶⁴	13.06	CASP10 CASP8 CD27 FAS FASLG IL2
9	Toll-like Receptor Signaling Pathway ³⁷ ¹ Show member pathways Chagas disease (American trypanosomiasis) ³⁷ NOD-like receptor signaling pathway ³⁷ NOD-like Receptor Signaling Pathways ⁶⁵ Regulation of toll-like receptor signaling pathway ¹	13.03	CASP8 FAS FASLG IL2 PRKCD XIAP
10	PI3K-Akt signaling pathway ³⁷ Show member pathways Human papillomavirus infection ³⁷	13	CASP8 FAS FASLG IL2 IL2RA NRAS
11	Common Cytokine Receptor Gamma-Chain Family Signaling Pathways ⁶⁵ Show member pathways Adipokines and Insulin Signaling Pathways ⁶⁵ Development Thrombopoietin-regulated cell processes ²² IL-15 Signaling Pathways ⁶⁵ IL-2 Signaling Pathways ⁶⁵ IL-21 Signaling Pathways ⁶⁵ IL-4 Signaling Pathway ¹ IL-4 Signaling Pathways ⁶⁵ IL-7 Signaling Pathways ⁶⁵ IL-9 Pathway ⁶⁴ IL-9 Signaling Pathways ⁶⁵ Immune response IL-4 signaling pathway ²² Immune response IL-9 signaling pathway ²²	12.91	IL2 IL2RA INPP5D PRKCD PTPN11
12	Development Angiotensin activation of ERK ²² Show member pathways Cell adhesion Integrin inside-out signaling ²² Development ACM2 and ACM4 activation of ERK ²² Development Angiotensin signaling via PYK2 ²² Development EDNRB signaling ²² Development EPO-induced MAPK pathway ²² Development G-Proteins mediated regulation MARK-ERK signaling ²² Signal transduction IP3 signaling ²²	12.89	CASP10 CASP8 CD27 FAS FASLG INPP5D
13	CCR5 Pathway in Macrophages ⁶⁴ Show member pathways Androgen Signaling ⁶⁴ Chemokine Signaling ⁶⁴ Chemokine signaling pathway ³⁷	12.88	FAS FASLG ITK NRAS PRKCD
14	TNFR1 Pathway ⁶⁴ Show member pathways Apoptosis and survival TNFR1 signaling pathway ²² Apoptosis through Death Receptors ⁶⁴ Apoptotic Pathways Triggered By HIV1 ⁶⁴ DR3 Signaling ⁶⁴ Fas Signaling ⁶⁴ GITR Pathway ⁶⁴ HIV-1 Nef- Negative effector of Fas and TNF-alpha ¹ Stimulation of the cell death response by PAK-2p34 ⁶⁶ TNF alpha Signaling Pathway ¹ TNF related weak inducer of apoptosis (TWEAK) Signaling Pathway ¹ TNF Signaling ⁶⁴ TRAIL Pathway ⁶⁴ TWEAK Pathway ⁶⁴	12.84	CASP10 CASP8 FAS FASLG NRAS PTPRC
15	Pathways in cancer ³⁷	12.82	CASP8 FAS FASLG IL2 IL2RA NRAS
16	MAPK signaling pathway ¹ ³⁷	12.81	CASP8 FAS FASLG NRAS PRKCD SH2D1A
17	IL-2 Pathway ⁶⁴ Show member pathways HMGB1 Pathway ⁶⁴ LPS Stimulated MAPK Signaling ⁶⁴ PACAP Signaling ⁶⁴ PI3K Signaling in B-Lymphocyte ⁶⁴ TREM1 Pathway ⁶⁴	12.8	IL2 IL2RA NRAS PRKCD PTPRC
18	Apoptosis Modulation and Signaling ¹ Show member pathways Apoptosis ³⁷ Apoptosis ¹ Apoptosis and survival Apoptotic TNF-family pathways ²² Apoptosis Signaling Pathways ⁶⁵ Death Receptor Signaling ⁶⁷	12.78	CASP10 CASP8 CD27 FAS FASLG NRAS
19	Allograft rejection ¹ ³⁷ Show member pathways Antigen processing and presentation ³⁷ Asthma ³⁷ Autoimmune thyroid disease ³⁷ CTL Mediated Apoptosis ⁶⁴ Graft-versus-host disease ³⁷ Intestinal immune network for IgA production ³⁷ THC Differentiation Pathway ⁶⁴ Type I diabetes mellitus ³⁷ Viral myocarditis ³⁷	12.78	CASP8 CTLA4 FAS FASLG IL2 IL2RA
20	Development HGF signaling pathway ²² Show member pathways Apoptosis and survival Anti-apoptotic action of membrane-bound ESR1 ²² Apoptosis and survival NGF signaling pathway ²² Apoptosis and survival Role of CDK5 in neuronal death and survival ²² Development Neurotrophin family signaling ²² MET activates PTPN11 ⁶⁶ MET activates STAT3 ⁶⁶ Neurotrophin signaling pathway ³⁷ Signaling events mediated by Hepatocyte Growth Factor Receptor (c-Met) ¹ Signaling of Hepatocyte Growth Factor Receptor ¹	12.76	FAS FASLG NRAS PRKCD PTPN11 XIAP
21	Chks in Checkpoint Regulation ⁶⁴ Show member pathways DNA Repair Mechanisms ⁶⁴ Estrogen-mediated S-Phase Entry ⁶⁴ G2-M Phase Transition ⁶⁴ Parkinson's Disease Pathway ⁶⁴ SREBP Proteolysis ⁶⁴	12.72	CASP10 CASP8 FAS FASLG XIAP
22	4-1BB Pathway ⁶⁴ Show member pathways CD27 Pathway ⁶⁴ CD40 Signaling ⁶⁴ CMV and MAPK Pathways ⁶⁴ NF-KappaB Activation by EBV ⁶⁴ NF-kappaB Activation by Viruses ⁶⁴ PKR Pathway ⁶⁴ SUMO Pathway ⁶⁴ TNFR2 Pathway ⁶⁴	12.69	CD27 FAS FASLG NRAS PRKCD
23	Influenza A ³⁷ Show member pathways Herpes simplex infection ³⁷ Measles ³⁷	12.69	CASP8 FAS FASLG IL2 IL2RA PTPN11
24	Immune response Fc epsilon RI pathway ²² Show member pathways Fc epsilon RI signaling pathway ³⁷ Fc-epsilon receptor I signaling in mast cells ¹ Immune response BCR pathway ²² VEGF signaling pathway ³⁷	12.62	INPP5D ITK NRAS PTPN11 PTPRC
25	Kaposi's sarcoma-associated herpesvirus infection ³⁷ Show member pathways Hepatitis B ³⁷	12.6	CASP10 CASP8 FAS FASLG NRAS
26	Development EGFR signaling pathway ²² Show member pathways Development ERBB-family signaling ²² EGF Pathway ⁶⁴ EGFR Signaling Pathway ⁶⁷ ErbB receptor signaling network ¹	12.57	CASP10 CASP8 NRAS PRKCD XIAP
27	BMP Pathway ⁶⁴ Show member pathways Caspase Cascade ⁶⁴ Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium Channels ⁶⁶ DREAM Repression and Dynorphin Expression ⁶⁴ nNOS Signaling in Skeletal Muscle ⁶⁴ TOB in Osteoblast Signaling ⁶⁴	12.5	CASP10 CASP8 FAS FASLG
28	Development FGFR signaling pathway ²² Show member pathways Development FGF-family signaling ²² Development Flt3 signaling ²² FGF Pathway ⁶⁴	12.44	INPP5D NRAS PRKCD PTPN11
29	HTLV-I infection ³⁷	12.43	IL2 IL2RA NRAS XIAP
30	B cell receptor signaling pathway (KEGG) ³⁷ Show member pathways B Cell Receptor Signaling Pathway ¹ BCR signaling pathway ¹	12.43	INPP5D NRAS PRKCD PTPN11 PTPRC
31	Apoptosis Pathway ⁷² Show member pathways Akt Pathway ⁷² NF-kappaB Pathway ⁷²	12.39	CASP10 CASP8 IL2 IL2RA NRAS PRKCD
32	TNF signaling (REACTOME) ⁶⁶ Show member pathways Death Receptor Signalling ⁶⁶ Regulation of TNFR1 signaling ⁶⁶ TNF receptor signaling pathway ¹ TNFR1-induced NFkappaB signaling pathway ⁶⁶ TNFR1-induced proapoptotic signaling ⁶⁶ TNFR1-mediated ceramide production ⁶⁶	12.38	CASP10 CASP8 FAS FASLG XIAP
33	B Cell Receptor Signaling Pathway (sino) ⁶⁷ Show member pathways B Cell Receptor Signaling Pathway ⁶⁷	12.35	NRAS PRKCD PTPN11 PTPRC
34	Regulation by c-FLIP ⁶⁶ Show member pathways CASP8 activity is inhibited ⁶⁶ Caspase activation via extrinsic apoptotic signalling pathway ⁶⁶ Dimerization of procaspase-8 ⁶⁶ FAS (CD95) signaling pathway ¹ Ligand-dependent caspase activation ⁶⁶ Ligand-independent caspase activation via DCC ⁶⁶ Regulated Necrosis ⁶⁶ Regulation of necroptotic cell death ⁶⁶ RIPK1-mediated regulated necrosis ⁶⁶ TRAIL signaling ⁶⁶ TRAIL signaling pathway ¹	12.34	CASP10 CASP8 FAS FASLG XIAP
35	Proteoglycans in cancer ³⁷	12.32	FAS FASLG NRAS PTPN11
36	ICos-ICosL Pathway in T-Helper Cell ⁶⁴ Show member pathways Calcium Mediated T-Cell Apoptosis ⁶⁴ CD28 Signaling in T-Helper Cell ⁶⁴	12.31	CTLA4 IL2 IL2RA ITK PRKCD PTPRC
37	p53 Signaling ⁶⁴ Show member pathways p53 Pathway ⁶⁷	12.28	CASP10 CASP8 FAS FASLG
38	Apoptosis and Autophagy ⁴	12.26	CASP8 FAS FASLG PTPN11 XIAP
39	Cell surface interactions at the vascular wall ⁶⁶ Show member pathways Fibronectin matrix formation ⁶⁶ PECAM1 interactions ⁶⁶ Tie2 Signaling ⁶⁶	12.25	CD244 INPP5D NRAS PTPN11
40	Necroptosis ³⁷ Show member pathways Nanoparticle triggered regulated necrosis ¹	12.24	CASP8 FAS FASLG XIAP
41	Immune response Role of DAP12 receptors in NK cells ²² Show member pathways Immune response CD16 signaling in NK cells ²² Natural killer cell mediated cytotoxicity ³⁷	12.23	CD244 FAS FASLG IL2 INPP5D NRAS
42	C-type lectin receptor signaling pathway ³⁷ Show member pathways Pathogen or Damage-activated C-Type Lectin Receptor Signaling Pathways ⁶⁵	12.22	CASP8 IL2 NRAS PRKCD PTPN11
43	Apoptosis and survival Caspase cascade ²² Show member pathways Apoptosis and survival FAS signaling cascades ²² Breakdown of the nuclear lamina ⁶⁶ Caspase cascade in apoptosis ¹ Fas Ligand (FasL) pathway and Stress induction of Heat Shock Proteins (HSP) regulation ¹ FasL/ CD95L signaling ⁶⁶ Influenza A virus infection ¹	12.21	CASP10 CASP8 FAS FASLG XIAP
44	Immune response IFN gamma signaling pathway ²² Show member pathways IFN-gamma pathway ¹	12.1	IL2 IL2RA NRAS PRKCD PTPN11 XIAP
45	Ceramide Pathway ⁶⁴ Show member pathways TNF-Induced Apoptosis Implicating Sphingolipids ⁶⁴	12.06	CASP10 CASP8 NRAS PRKCD
46	Immune response IL-2 activation and signaling pathway ²² Show member pathways Immune response IL-3 activation and signaling pathway ²²	12	IL2 IL2RA INPP5D PTPN11
47	IL12-mediated signaling events ¹ Show member pathways Immune response IL-12-induced IFN-gamma production ²²	11.97	FASLG IL2 IL2RA
48	T cell receptor signaling pathway ³⁷ Show member pathways T-Cell antigen Receptor (TCR) Signaling Pathway ¹ T-Cell antigen Receptor (TCR) pathway during Staphylococcus aureus infection ¹	11.97	CTLA4 FAS IL2 ITK NRAS PRKCD
49	Translocation of ZAP-70 to Immunological synapse ⁶⁶ Show member pathways Generation of second messenger molecules ⁶⁶ PD-1 signaling ⁶⁶ Phosphorylation of CD3 and TCR zeta chains ⁶⁶	11.95	ITK PTPN11 PTPRC
50	TCR signaling in naive CD4+ T cells ¹ Show member pathways TCR signaling in naive CD8+ T cells ¹	11.95	ITK PTPN11 PTPRC

Sources

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

Sources for Lymphoproliferative Syndrome

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia