MCID: ATM006
MIFTS: 66

Autoimmune Lymphoproliferative Syndrome malady

Genetic diseases, Rare diseases, Blood diseases, Cancer diseases, Immune diseases categories

Aliases & Classifications for Autoimmune Lymphoproliferative Syndrome

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Sources:
45OMIM, 9Disease Ontology, 19GeneReviews, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 11DISEASES, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 10diseasecard, 38NCIt, 27ICD9CM, 33MeSH, 34MESH via Orphanet, 61UMLS via Orphanet
See all sources

Autoimmune Lymphoproliferative Syndrome, Aliases & Descriptions:

Name: Autoimmune Lymphoproliferative Syndrome 45 9 19 41 20 21 11 43 47 22 60
Canale-Smith Syndrome 9 19 41 21 47
Alps 9 19 41 21 47
Autoimmune Lymphoproliferative Syndrome, Type Ib 45 20 22
 
Autoimmune Lymphoproliferative Syndrome, Type Ia 45 10 20
Fas Deficiency 41 47
Autoimmune Lymphoproliferative Syndrome Type 1, Autosomal Dominant 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
autoimmune lymphoproliferative syndrome:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: All ages


External Ids:

OMIM45 601859
Disease Ontology9 DOID:6688
NCIt38 C37864
ICD9CM27 279.41
MeSH33 D056735
Orphanet47 3261
MESH via Orphanet34 D056735
UMLS via Orphanet61 C1328840

Summaries for Autoimmune Lymphoproliferative Syndrome

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NIH Rare Diseases:41 Autoimmune lymphoproliferative syndrome (alps) is a disorder in which the body cannot properly regulate the number of immune system cells (lymphocytes). this results in the overproduction of lymphocytes, which build up and cause enlargement of the lymph nodes, liver and spleen. affected individuals can have a variety of autoimmune disorders, most of which damage the blood cells; some of the autoimmune disorders associated with alps can also damage the kidneys, liver, eyes, nerves, or connective tissues. other signs and symptoms may include skin rashes or panniculitis; arthritis; inflammation of blood vessels (vasculitis); mouth sores; premature ovarian failure; and the development of neurological damage. alps is caused by mutations in the fas gene in about 75% of cases. it is usually inherited in an autosomal dominant manner, although some severe cases are inherited in an autosomal recessive manner. management may include steroids or other medications, blood transfusions, and/or splenectomy depending on the severity of the disorder. alps is categorized into several types based mainly on the genetic cause. last updated: 2/15/2012

MalaCards based summary: Autoimmune Lymphoproliferative Syndrome, also known as canale-smith syndrome, is related to splenomegaly and common variable immunodeficiency, and has symptoms including autosomal dominant inheritance, urticaria and splenomegaly. An important gene associated with Autoimmune Lymphoproliferative Syndrome is FAS (Fas cell surface death receptor), and among its related pathways are Immune response Role of DAP12 receptors in NK cells and Proteoglycans in cancer. The compounds (glc)4 and dutp have been mentioned in the context of this disorder. Affiliated tissues include spleen, lymph node and liver, and related mouse phenotypes are endocrine/exocrine gland and muscle.

Disease Ontology:9 A hypersensitivity reaction type iv disease that is an inherited disorder in which the body cannot properly regulate the number of immune system cells (lymphocytes). it is characterized by the production of an abnormally large number of lymphocytes. accumulation of excess lymphocytes results in enlargement of the lymph nodes, the liver, and the spleen.

Genetics Home Reference:21 Autoimmune lymphoproliferative syndrome (ALPS) is an inherited disorder in which the body cannot properly regulate the number of immune system cells (lymphocytes). ALPS is characterized by the production of an abnormally large number of lymphocytes (lymphoproliferation). Accumulation of excess lymphocytes results in enlargement of the lymph nodes (lymphadenopathy), the liver (hepatomegaly), and the spleen (splenomegaly).

OMIM:45 Autoimmune lymphoproliferative syndrome is a heritable disorder of apoptosis, resulting in the accumulation of... (601859) more...

Wikipedia:63 Autoimmune lymphoproliferative syndrome (ALPS), also known as Canale-Smith syndrome, is a form of... more...

GeneReviews summary for alps

Related Diseases for Autoimmune Lymphoproliferative Syndrome

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Diseases in the Autoimmune Lymphoproliferative Syndrome family:

Autoimmune Lymphoproliferative Syndrome, Type V Autoimmune Lymphoproliferative Syndrome, Type Iii
Lymphoproliferative Syndrome 1 Lymphoproliferative Syndrome 2
Autoimmune Lymphoproliferative Syndrome, Type Ii Autoimmune Lymphoproliferative Syndrome Type Iv
Autoimmune Lymphoproliferative Syndrome, Type Iib Fas-Related Autoimmune Lymphoproliferative Syndrome
Faslg-Related Autoimmune Lymphoproliferative Syndrome Casp10-Related Autoimmune Lymphoproliferative Syndrome
Autoimmune Lymphoproliferative Syndrome, Type 0 Autosomal Recessive Lymphoproliferative Disease

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

(show top 50)    (show all 113)
idRelated DiseaseScoreTop Affiliating Genes
1splenomegaly30.8IL2RA, FAS
2common variable immunodeficiency30.6IL10, IL2RA
3autoimmune hepatitis30.5PTPRC, FAS
4uveitis30.3IL10, IL2RA
5sarcoma30.3NRAS, PTPRC, FADD
6astrocytoma30.0SPP1, FASLG, CASP8
7autoimmune lymphoproliferative syndrome, type ii10.6
8autoimmune lymphoproliferative syndrome type iv10.6
9dianzani autoimmune lymphoproliferative syndrome10.6
10autoimmune lymphoproliferative syndrome, type iii10.5
11autoimmune lymphoproliferative syndrome, type iib10.5
12lung cancer10.5NRAS
13thyroiditis10.4FASLG
14autoimmune lymphoproliferative syndrome, type v10.4
15autoimmune lymphoproliferative syndrome with recurrent viral infections10.4
16fas-related autoimmune lymphoproliferative syndrome10.4
17faslg-related autoimmune lymphoproliferative syndrome10.4
18casp10-related autoimmune lymphoproliferative syndrome10.4
19autoimmune lymphoproliferative syndrome, type 010.4
20silicosis10.4FAS, FASLG
21lymphomatoid papulosis10.3FASLG, FAS
22hypersensitivity syndrome, carbamazepine-induced10.3FASLG, FAS
23cowpox10.3FAS, CASP8
24evans' syndrome10.3
25eosinophilia10.3
26purpura10.3
27tropical spastic paraparesis10.3FASLG, IL2RA
28aplastic anemia10.2FAS, FASLG
29myelodysplastic syndrome10.2NRAS, FASLG, FAS
30precursor b-cell acute lymphoblastic leukemia10.2CASP8, PTPRC
31gastric adenocarcinoma10.2FAS, FASLG, CASP8
32colon adenocarcinoma10.2FAS, FASLG, CASP8
33burkitt lymphoma10.2FAS, FASLG, CASP8
34hcl-v10.2IL2RA, PTPRC
35rhabdoid tumor10.2PTPRC, SPP1
36vogt-koyanagi-harada disease10.2IL2RA, FASLG, FAS
37peripheral t-cell lymphoma10.1IL2RA, PTPRC
38malaria10.1
39hodgkin lymphoma10.1
40arthritis10.1
41glomerulonephritis10.1
42hemophagocytic lymphohistiocytosis10.1
43hepatitis10.1
44neuromyelitis optica10.1
45thrombocytopenia10.1
46polyarteritis nodosa10.1
47histiocytosis10.1
48pancreatitis10.1
49autoimmune pancreatitis10.1
50chronic active epstein-barr virus infection10.1

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



Diseases related to autoimmune lymphoproliferative syndrome

Symptoms for Autoimmune Lymphoproliferative Syndrome

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Symptoms by clinical synopsis from OMIM:

601859

Clinical features from OMIM:

601859

HPO human phenotypes related to Autoimmune Lymphoproliferative Syndrome:

(show all 27)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 urticaria HP:0001025
3 splenomegaly HP:0001744
4 eosinophilia HP:0001880
5 autoimmune hemolytic anemia HP:0001890
6 iron deficiency anemia HP:0001891
7 autoimmune neutropenia HP:0001904
8 autoimmune thrombocytopenia HP:0001973
9 hepatomegaly HP:0002240
10 vasculitis HP:0002633
11 follicular hyperplasia HP:0002729
12 chronic noninfectious lymphadenopathy HP:0002730
13 defective lymphocyte apoptosis HP:0002731
14 increased number of peripheral cd3+ t cells HP:0002845
15 increased number of cd4-/cd8- t cells expressing alpha/beta t-cell receptors HP:0002851
16 increased proportion of hla dr+ and cd57+ t cells HP:0002853
17 rheumatoid factor positive HP:0002923
18 reduced delayed hypersensitivity HP:0002972
19 increased igg level HP:0003237
20 increased iga level HP:0003261
21 smooth muscle antibody positivity HP:0003262
22 antineutrophil antibody positivity HP:0003453
23 platelet antibody positive HP:0003454
24 antinuclear antibody positivity HP:0003493
25 increased igm level HP:0003496
26 antiphospholipid antibody positivity HP:0003613
27 coombs-positive hemolytic anemia HP:0004844

Drugs & Therapeutics for Autoimmune Lymphoproliferative Syndrome

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Drug clinical trials:

Search ClinicalTrials for Autoimmune Lymphoproliferative Syndrome

Search NIH Clinical Center for Autoimmune Lymphoproliferative Syndrome

Genetic Tests for Autoimmune Lymphoproliferative Syndrome

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Genetic tests related to Autoimmune Lymphoproliferative Syndrome:

id Genetic test Affiliating Genes
1 Autoimmune Lymphoproliferative Syndrome20 22 FASLG
2 Autoimmune Lymphoproliferative Syndrome, Type Ia20
3 Autoimmune Lymphoproliferative Syndrome, Type Ib20
4 Autoimmune Lymphoproliferative Syndrome, Type 1b22

Anatomical Context for Autoimmune Lymphoproliferative Syndrome

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MalaCards organs/tissues related to Autoimmune Lymphoproliferative Syndrome:

31
Spleen, Lymph node, Liver, T cells, Eye, Kidney, Skin, Smooth muscle, B cells, Bone marrow, Bone, Neutrophil

Animal Models for Autoimmune Lymphoproliferative Syndrome or affiliated genes

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Publications for Autoimmune Lymphoproliferative Syndrome

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Articles related to Autoimmune Lymphoproliferative Syndrome:

(show top 50)    (show all 161)
idTitleAuthorsYear
1
Adult onset autoimmune lymphoproliferative syndrome due to somatic FAS mutation. (25827517)
2015
2
Updated Understanding of Autoimmune Lymphoproliferative Syndrome (ALPS). (25663566)
2015
3
Natural history of autoimmune lymphoproliferative syndrome associated with FAS gene mutations. (24398331)
2014
4
Autoimmune lymphoproliferative syndrome with neonatal onset. (24906264)
2014
5
Association of severe myoclonic epilepsy of infancy (SMEI) with probable autoimmune lymphoproliferative syndrome-variant. (25669891)
2014
6
Variations of the UNC13D gene in patients with autoimmune lymphoproliferative syndrome. (23840885)
2013
7
Autoimmune pancreatitis in the autoimmune lymphoproliferative syndrome (ALPS): a sheep in wolves' clothing? (23407489)
2013
8
Tubulointerstitial nephritis in a patient with probable autoimmune lymphoproliferative syndrome. (23588339)
2013
9
Diagnosis of autoimmune lymphoproliferative syndrome caused by FAS deficiency in adults. (22983577)
2013
10
A missense mutation in the extracellular domain of Fas: the most common change in Argentinean patients with autoimmune lymphoproliferative syndrome represents a founder effect. (22752343)
2012
11
Thymic functions and gene expression profile distinct double-negative cells from single positive cells in the autoimmune lymphoproliferative syndrome. (22273982)
2012
12
Elevated vitamin Ba88a88 levels in autoimmune lymphoproliferative syndrome attributable to elevated haptocorrin in lymphocytes. (22306884)
2012
13
A survey of 90 patients with autoimmune lymphoproliferative syndrome related to TNFRSF6 mutation. (21885602)
2011
14
Pentostatin for treatment of refractory autoimmune lymphoproliferative syndrome. (21495163)
2011
15
Secondary anaplastic astrocytoma developing in a young adult with autoimmune lymphoproliferative syndrome (ALPS). (20846185)
2011
16
Accessory spleen: differential diagnosis for lymphoma in autoimmune lymphoproliferative syndrome. (20162683)
2010
17
Using biomarkers to predict the presence of FAS mutations in patients with features of the autoimmune lymphoproliferative syndrome. (20227752)
2010
18
Advances in the management and understanding of autoimmune lymphoproliferative syndrome (ALPS). (19930184)
2010
19
Residual CD95-pathway function in children with autoimmune lymphoproliferative syndrome is independent from clinical state and genotype of CD95 mutation. (18948840)
2009
20
Valproic acid (VPA), a histone deacetylase (HDAC) inhibitor, diminishes lymphoproliferation in the Fas -deficient MRL/lpr(-/-) murine model of autoimmune lymphoproliferative syndrome (ALPS). (19217201)
2009
21
Splenectomy in two children with autoimmune lymphoproliferative syndrome and massive splenomegaly. (19499578)
2009
22
Use of rituximab for refractory cytopenias associated with autoimmune lymphoproliferative syndrome (ALPS). (19214977)
2009
23
Autoimmune lymphoproliferative syndrome-like syndrome presented as lupus-like syndrome with mycobacterial joint infection evolved into the lymphoma. (18820932)
2009
24
Cell cycle regulation by FasL and Apo2L/TRAIL in human T-cell blasts. Implications for autoimmune lymphoproliferative syndromes. (18483205)
2008
25
Autoimmune lymphoproliferative syndrome (ALPS): a rare cause of immune cytopenia. (18310796)
2008
26
Autoimmune lymphoproliferative syndrome (ALPS) caused by Fas (CD95) mutation mimicking sarcoidosis. (18223337)
2008
27
Spotlight on autoimmune lymphoproliferative syndrome. (17637938)
2007
28
Autoimmune lymphoproliferative syndrome (ALPS) in a patient with a new germline Fas gene mutation. (17336828)
2007
29
Successful treatment of autoimmune lymphoproliferative syndrome and refractory autoimmune thrombocytopenic purpura with a reduced intensity conditioning stem cell transplantation followed by donor lymphocyte infusion. (17618315)
2007
30
Eosinophilia is associated with a higher mortality rate among patients with autoimmune lymphoproliferative syndrome. (17266055)
2007
31
Autoimmune lymphoproliferative syndrome in a patient with common variable immunodeficiency: dichotomy of apoptosis. (17601274)
2007
32
A homozygous Fas ligand gene mutation in a patient causes a new type of autoimmune lymphoproliferative syndrome. (16627752)
2006
33
Rapamycin improves lymphoproliferative disease in murine autoimmune lymphoproliferative syndrome (ALPS). (16757690)
2006
34
Autoimmune lymphoproliferative syndrome: meticulous care for diagnosis. (17301447)
2005
35
Autoimmune lymphoproliferative syndrome. (15640690)
2004
36
Positron emission tomography scan findings of autoimmune lymphoproliferative syndrome. (15193245)
2004
37
Common expression of an unusual CD45 isoform on T cells from patients with large granular lymphocyte leukaemia and autoimmune lymphoproliferative syndrome. (12492582)
2003
38
Neutrophil and platelet antibodies in autoimmune lymphoproliferative syndrome. (14633257)
2003
39
Dominant expression of interleukin 10 but not interferon gamma in CD4(-)CD8(-)alphabetaT cells of autoimmune lymphoproliferative syndrome. (12406097)
2002
40
Unusual expression of LINE-1 transposable element in the MRL autoimmune lymphoproliferative syndrome-prone strain. (12165858)
2002
41
Immunophenotypic profiles in families with autoimmune lymphoproliferative syndrome. (11588044)
2001
42
Autoimmune lymphoproliferative syndrome type III: an indefinite disorder. (11342357)
2001
43
Diffuse large B-cell non-Hodgkin's lymphoma in a patient with autoimmune lymphoproliferative syndrome. (11380411)
2001
44
Description of serologic features in autoimmune lymphoproliferative syndrome. (10960521)
2000
45
Cytomegalovirus infection in infants with autoimmune lymphoproliferative syndrome (ALPS). (10931153)
2000
46
Report of a factor VIII inhibitor in a patient with autoimmune lymphoproliferative syndrome. (10861820)
2000
47
Expression in transgenic mice of dominant interfering Fas mutations: a model for human autoimmune lymphoproliferative syndrome. (10497009)
1999
48
An inherited disorder of lymphocyte apoptosis: the autoimmune lymphoproliferative syndrome. (10189330)
1999
49
The use of the anti-malaria drug Fansidar (pyrimethamine and sulphadoxine) in the treatment of a patient with autoimmune lymphoproliferative syndrome and Fas deficiency. (9695976)
1998
50
Missense mutations in the Fas gene resulting in autoimmune lymphoproliferative syndrome: a molecular and immunological analysis. (9028321)
1997

Variations for Autoimmune Lymphoproliferative Syndrome

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

62 (show all 22)
id Symbol AA change Variation ID SNP ID
1FASp.Thr28AlaVAR_013417
2FASp.Cys82ArgVAR_013418
3FASp.Arg121TrpVAR_013419
4FASp.Tyr232CysVAR_013423
5FASp.Thr241LysVAR_013424
6FASp.Thr241ProVAR_013425
7FASp.Arg250ProVAR_013426
8FASp.Arg250GlnVAR_013427
9FASp.Ala257AspVAR_013428
10FASp.Asp260GlyVAR_013429
11FASp.Asp260TyrVAR_013430
12FASp.Asp260ValVAR_013431rs28929498
13FASp.Thr270IleVAR_013433
14FASp.Glu272GlyVAR_013434
15FASp.Glu272LysVAR_013435
16FASp.Ile310SerVAR_013438
17FASp.Ile262SerVAR_058910
18FASp.Val249LeuVAR_065128
19FASp.Gly253AspVAR_065129
20FASp.Gly253SerVAR_065130
21FASp.Ile259ArgVAR_065131
22FASp.Thr270LysVAR_065132

Clinvar genetic disease variations for Autoimmune Lymphoproliferative Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1NRASNM_002524.4(NRAS): c.38G> A (p.Gly13Asp)single nucleotide variantPathogenicrs121434596GRCh37Chr 1, 115258744: 115258744
2FASLGNM_000639.1(FASLG): c.472_555del84 (p.Met158_Glu185del)deletionPathogenicrs80358236GRCh37Chr 1, 172634782: 172634865
3FASLGNM_000639.1(FASLG): c.466A> G (p.Arg156Gly)single nucleotide variantPathogenicrs80358238GRCh37Chr 1, 172634776: 172634776
4FASLGNM_000639.1(FASLG): c.740C> A (p.Ala247Glu)single nucleotide variantPathogenicrs80358237GRCh37Chr 1, 172635050: 172635050
5CASP10NM_032977.3(CASP10): c.1228G> A (p.Val410Ile)single nucleotide variantPathogenicrs13010627GRCh37Chr 2, 202074098: 202074098
6CASP10NM_032977.3(CASP10): c.853C> T (p.Leu285Phe)single nucleotide variantPathogenicrs17860403GRCh37Chr 2, 202072837: 202072837
7CASP10NM_032977.3(CASP10): c.1216A> C (p.Ile406Leu)single nucleotide variantPathogenicrs80358239GRCh37Chr 2, 202074086: 202074086

Expression for genes affiliated with Autoimmune Lymphoproliferative Syndrome

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

Pathways for genes affiliated with Autoimmune Lymphoproliferative Syndrome

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

(show top 50)    (show all 60)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Immune response CD16 signaling in NK cells58
9.5NRAS, FASLG, FAS
29.5NRAS, FAS, FASLG
3
Show member pathways
9.4FAS, CASP10, CASP8
49.4FAS, FASLG, IL10
5
Show member pathways
Alzheimers Disease36
9.3FADD, FAS, CASP8
6
Show member pathways
PLK2 and PLK4 events36
Polo-like kinase signaling events in the cell cycle36
9.3FASLG, IL10, NRAS
7
Show member pathways
9.3CASP8, PRKCD, NRAS
8
Show member pathways
9.3CASP10, FADD, CASP8
9
Show member pathways
Alternative NF-kappaB pathway36
9.3CASP10, CASP8, FADD
10
Show member pathways
9.3FADD, CASP10, CASP8
119.2PRKCD, CASP8, FADD
12
Show member pathways
Immune response BCR pathway58
Fc-epsilon receptor I signaling in mast cells36
9.2PTPRC, PRKCD, NRAS
13
Show member pathways
Development EGFR signaling via PIP358
Development PDGF signaling via MAPK cascades58
Apoptosis and survival Anti apoptotic action of membrane bound ESR158
Signaling of Hepatocyte Growth Factor Receptor36
Development EGFR signaling via small GTPases58
Development Neurotrophin family signaling58
Apoptosis and survival NGF signaling pathway58
Apoptosis and survival Role of CDK5 in neuronal death and survival58
9.2FAS, PRKCD, FASLG, NRAS
149.0FAS, SPP1, CASP10
159.0CASP10, CASP8, FAS, FADD
16
Show member pathways
9.0PRKCD, CASP10, NRAS, CASP8
179.0SPP1, FASLG, PRKCD
18
Show member pathways
9.0PTPRC, PRKCD, IL2RA
19
Show member pathways
8.9CASP8, FADD, NRAS, CASP10
20
Show member pathways
8.8FAS, CASP10, PRKCD, FASLG, FADD
218.8CASP10, CASP8, FADD, IL10
22
Show member pathways
8.7FAS, FASLG, IL10, IL2RA
23
Show member pathways
MAPK signaling pathway36
8.7NRAS, CASP8, PRKCD, FASLG, FAS
248.7CASP10, CASP8, FASLG, FAS, FADD
258.7FASLG, CASP10, FAS, FADD, CASP8
26
Show member pathways
FAS pathway and Stress induction of HSP regulation36
Apoptosis and survival FAS signaling cascades58
Caspase cascade in apoptosis36
8.7FAS, FADD, FASLG, CASP10, CASP8
27
Show member pathways
TRAIL signaling pathway36
8.7FAS, FADD, FASLG, CASP8, CASP10
28
Show member pathways
Apoptosis Modulation and Signaling36
Apoptosis36
8.7CASP10, FADD, FAS, CASP8, FASLG
29
Show member pathways
8.7FADD, CASP10, FAS, CASP8, FASLG
30
Show member pathways
Apoptosis and survival Apoptotic TNF family pathways58
8.7FASLG, CASP8, CASP10, FADD, FAS
31
Show member pathways
8.7FAS, FASLG, CASP8, CASP10, FADD
328.7FADD, FAS, NRAS, CASP8, FASLG
33
Show member pathways
8.6NRAS, IL2RA, PRKCD, PTPRC
34
Show member pathways
8.6NRAS, CASP10, CASP8, FADD, PRKCD
35
Show member pathways
BCR signaling pathway36
TCR Signaling Pathway36
8.4PRKCD, PTPRC, FAS, NRAS, IL10
36
Show member pathways
8.4FAS, IL2RA, CASP8, FASLG, FADD
378.4IL2RA, NRAS, SPP1, FASLG
38
Show member pathways
8.4CASP8, IL2RA, CASP10, NRAS, PRKCD
39
Show member pathways
Proteasome Degradation36
Immune response Antigen presentation by MHC class I58
8.3PRKCD, FAS, FASLG, FADD, CASP10, CASP8
40
Show member pathways
8.3PRKCD, NRAS, SPP1, IL2RA
418.2IL2RA, PTPRC, FAS, IL10, FASLG
42
Show member pathways
8.2IL10, FADD, PRKCD, IL2RA, NRAS
43
Show member pathways
Apoptosis and survival TNFR1 signaling pathway58
TWEAK Signaling Pathway36
Apoptosis Modulation by HSP7036
HIV-1 Nef- Negative effector of Fas and TNF-alpha36
8.2PTPRC, FAS, FADD, FASLG, CASP8, CASP10
44
Show member pathways
7.9PRKCD, NRAS, CASP8, IL2RA, FADD, CASP10
45
Show member pathways
7.9FAS, FADD, FASLG, IL2RA, IL10, CASP8
46
Show member pathways
7.8SPP1, NRAS, IL2RA, PRKCD, PTPRC
47
Show member pathways
7.3PRKCD, IL2RA, CASP10, NRAS, IL10, CASP8
48
Show member pathways
7.3FASLG, CASP8, IL10, PRKCD, FAS, NRAS
49
Show member pathways
Toll-like receptor signaling pathway36
Regulation of toll-like receptor signaling pathway36
7.0FADD, NRAS, CASP10, CASP8, IL10, FASLG
50
Show member pathways
6.6IL10, PRKCD, SPP1, CASP10, FADD, CASP8

Compounds for genes affiliated with Autoimmune Lymphoproliferative Syndrome

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Compounds related to Autoimmune Lymphoproliferative Syndrome according to GeneCards Suite gene sharing:

(show top 50)    (show all 149)
idCompoundScoreTop Affiliating Genes
1(glc)4439.8CASP8, FASLG, FAS
2dutp439.6CASP8, FASLG, FAS
3depsipeptide439.5FAS, FASLG, CASP8
4rottlerin439.4CASP8, FAS, FASLG, PRKCD
5suberoylanilide hydroxamic acid439.4FAS, FASLG, CASP8
6sp 60012543 5910.3CASP8, FASLG, FADD, FAS
7camptothecin43 59 1211.3FASLG, FADD, FAS, CASP8
8okt3439.3IL10, FAS, IL2RA
9phosphatidylserine43 28 1211.2FAS, FASLG, CASP8, PRKCD
102-chlorodeoxyadenosine439.2IL2RA, CASP8, FASLG, FAS
11ceramide439.2FAS, CASP8, FASLG, FADD
12agarose439.2CASP8, PTPRC, FAS, FASLG
13anisomycin43 1210.2FAS, FASLG, IL2RA, CASP8
14chitosan439.2FAS, IL10, SPP1
15ivig439.1FAS, FASLG, IL2RA, IL10
16mitomycin c438.9FAS, FASLG, FADD, IL10, CASP8
17agar438.8FAS, SPP1, NRAS, FASLG
18epinephrine43 24 1210.8FASLG, FAS, IL2RA, CASP8
195fluorouracil438.8FASLG, FAS, IL2RA, FADD, CASP8
20ifn-alpha438.7FAS, CASP8, FASLG, IL2RA, IL10
21rapamycin438.7FASLG, FAS, PRKCD, IL2RA, IL10
22n acetylcysteine438.7PTPRC, FAS, FASLG, IL2RA, CASP8
23polysaccharide438.6FAS, PTPRC, FASLG, CASP8, IL2RA
24rantes438.6FAS, IL10, IL2RA, FASLG
25wortmannin438.6FAS, FASLG, SPP1, PRKCD, CASP8
26paclitaxel43 49 1210.5FASLG, IL2RA, CASP8, CASP10, FAS, FADD
27tgf beta1438.5FAS, FASLG, IL10, CASP8, SPP1
28herbimycin a43 599.5SPP1, IL2RA, FAS, PTPRC
29sb 20358043 599.5CASP8, FASLG, IL10, FAS, SPP1
30doxorubicin43 49 1210.5IL2RA, PRKCD, FASLG, FADD, FAS, CASP8
31ly294002438.4FASLG, FAS, SPP1, IL10, CASP8
32actinomycin d438.3FADD, FAS, SPP1, FASLG, CASP8, CASP10
33ionomycin438.3IL2RA, IL10, PTPRC, FASLG, FAS, PRKCD
34genistein43 28 59 2 24 1213.2FASLG, SPP1, PTPRC, FAS, IL2RA
35mycophenolate mofetil43 49 1210.2IL10, IL2RA, SPP1
36aspartate438.2FAS, FASLG, IL2RA, IL10, SPP1
37heparin43 28 24 1211.2SPP1, IL2RA, FAS, FASLG, PTPRC
38infliximab43 49 1210.1IL2RA, IL10, FAS, PTPRC, SPP1
39tacrolimus43 49 1210.1SPP1, IL10, FASLG, IL2RA, CASP8
40testosterone43 59 24 1210.9FASLG, FADD, PTPRC, FAS, SPP1, IL2RA
41paraffin437.8SPP1, IL2RA, FASLG, FAS, PTPRC, IL10
42cyclosporin a43 28 599.8IL10, SPP1, PTPRC, FAS, FASLG, IL2RA
43h2o2437.5CASP8, FASLG, PRKCD, FAS, PTPRC, SPP1
44serine437.4SPP1, PTPRC, FAS, FADD, PRKCD, CASP8
45dexamethasone43 49 28 1210.4PTPRC, FAS, FASLG, IL2RA, IL10, CASP8
46cisplatin43 49 59 1210.3FAS, CASP8, IL2RA, PRKCD, FASLG, FADD
47cycloheximide437.2CASP8, PRKCD, FADD, SPP1, PTPRC, IL10
48phosphatidylinositol437.1PTPRC, PRKCD, FADD, CASP8, FASLG, IL2RA
49cysteine436.8SPP1, FAS, FADD, FASLG, PRKCD, PTPRC
50tyrosine436.8NRAS, CASP8, PRKCD, FAS, FASLG, FADD

GO Terms for genes affiliated with Autoimmune Lymphoproliferative Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1cell bodyGO:00442979.6CASP8, FADD
2ripoptosomeGO:00973429.4FADD, CASP8, CASP10
3death-inducing signaling complexGO:00312649.4FAS, FADD, CASP8
4CD95 death-inducing signaling complexGO:00312659.2CASP10, CASP8, FADD, FAS
5membrane raftGO:00451218.8PTPRC, FAS, FADD, CASP8
6external side of plasma membraneGO:00098978.6IL2RA, FASLG, FAS, PTPRC
7extracellular vesicular exosomeGO:00700628.4PTPRC, FAS, FASLG, PRKCD, NRAS

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

(show all 24)
idNameGO IDScoreTop Affiliating Genes
1inflammatory cell apoptotic processGO:000692510.2FASLG, FAS
2motor neuron apoptotic processGO:009704910.1FADD, FAS
3spleen developmentGO:00485369.9FAS, FADD
4activation of cysteine-type endopeptidase activityGO:00972029.8FADD, CASP8
5positive regulation of macrophage differentiationGO:00456519.8FADD, CASP8
6necroptotic signaling pathwayGO:00975279.8FASLG, FAS, FADD
7activation-induced cell death of T cellsGO:00069249.8IL2RA, FAS
8positive regulation of proteolysisGO:00458629.8CASP8, FADD
9positive regulation of extrinsic apoptotic signaling pathwayGO:020012389.7FADD, CASP8
10extrinsic apoptotic signaling pathway in absence of ligandGO:00971929.7FAS, FADD
11cellular component disassembly involved in execution phase of apoptosisGO:00069219.6CASP8, PRKCD
12positive regulation of activated T cell proliferationGO:00421049.6FADD, IL2RA
13cellular response to mechanical stimulusGO:00712609.6FAS, FADD, CASP8
14regulation of extrinsic apoptotic signaling pathway in absence of ligandGO:020012399.4CASP8, FAS, FASLG, FADD
15B cell proliferationGO:00421009.4PTPRC, PRKCD, IL10
16extrinsic apoptotic signaling pathwayGO:00971919.4CASP8, FASLG, FADD, FAS
17extrinsic apoptotic signaling pathway via death domain receptorsGO:00086259.4FASLG, FAS, CASP8, FADD
18activation of cysteine-type endopeptidase activity involved in apoptotic processGO:00069199.3FADD, CASP8, FAS, FASLG
19negative regulation of T cell proliferationGO:00421309.3IL10, IL2RA
20positive regulation of I-kappaB kinase/NF-kappaB signalingGO:00431239.3FADD, CASP8, FASLG, CASP10
21positive regulation of apoptotic processGO:00430659.2FASLG, FADD, FAS
22apoptotic signaling pathwayGO:00971909.1FASLG, CASP8, CASP10, FADD, FAS
23innate immune responseGO:00450878.8NRAS, FADD, PRKCD, CASP8, CASP10
24apoptotic processGO:00069158.1CASP10, FAS, FADD, FASLG, PRKCD, CASP8

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

idNameGO IDScoreTop Affiliating Genes
1cysteine-type endopeptidase activityGO:00041979.7CASP10, CASP8
2cysteine-type endopeptidase activity involved in apoptotic signaling pathwayGO:00971999.6CASP8, CASP10
3death effector domain bindingGO:00358779.4CASP10, CASP8, FADD
4tumor necrosis factor receptor bindingGO:00051649.3CASP8, FASLG, FADD
5cytokine activityGO:00051258.5IL10, FASLG, SPP1

Products for genes affiliated with Autoimmune Lymphoproliferative Syndrome

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  • Antibodies
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  • Kits and Assays

Sources for Autoimmune Lymphoproliferative Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet