MCID: ATM006
MIFTS: 76

Autoimmune Lymphoproliferative Syndrome malady

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

Summaries for Autoimmune Lymphoproliferative Syndrome

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NIH Rare Diseases:43 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 common variable immunodeficiency and splenomegaly, 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:10 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:23 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:47 Autoimmune lymphoproliferative syndrome is a heritable disorder of apoptosis, resulting in the accumulation of... (601859) more...

Wikipedia:65 Autoimmune lymphoproliferative syndrome (ALPS), also known as Canale-Smith syndrome, is a form of... more...

GeneReviews summary for alps

Aliases & Classifications for Autoimmune Lymphoproliferative Syndrome

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Sources:
47OMIM, 10Disease Ontology, 11diseasecard, 21GeneReviews, 43NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 12DISEASES, 45Novoseek, 49Orphanet, 24GTR, 62UMLS, 40NCIt, 29ICD9CM, 35MeSH, 36MESH via Orphanet, 63UMLS via Orphanet
See all sources

Autoimmune Lymphoproliferative Syndrome, Aliases & Descriptions:

Name: Autoimmune Lymphoproliferative Syndrome 47 10 21 43 22 23 12 45 49 24 62
Canale-Smith Syndrome 10 21 43 23 49
Alps 10 21 43 23 49
Autoimmune Lymphoproliferative Syndrome, Type Ib 47 22 24
 
Autoimmune Lymphoproliferative Syndrome, Type Ia 47 11 22
Fas Deficiency 43 49
Autoimmune Lymphoproliferative Syndrome Type 1, Autosomal Dominant 43


Classifications:



Characteristics (Orphanet epidemiological data):

49
autoimmune lymphoproliferative syndrome:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: All ages


External Ids:

OMIM47 601859
Disease Ontology10 DOID:6688
NCIt40 C37864
ICD9CM29 279.41
MeSH35 D056735
Orphanet49 3261
MESH via Orphanet36 D056735
UMLS via Orphanet63 C1328840

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/GeneDecks gene sharing:

(show top 50)    (show all 114)
idRelated DiseaseScoreTop Affiliating Genes
1common variable immunodeficiency30.6IL10, IL2RA
2splenomegaly30.5IL2RA, FAS
3autoimmune hepatitis30.3PTPRC, FAS
4uveitis30.2IL10, IL2RA
5sarcoma30.2NRAS, PTPRC, FADD
6astrocytoma30.2SPP1, FASLG, CASP8
7autoimmune lymphoproliferative syndrome, type ii10.6
8dianzani autoimmune lymphoproliferative syndrome10.6
9autoimmune lymphoproliferative syndrome type iv10.6
10autoimmune lymphoproliferative syndrome, type iii10.5
11autoimmune lymphoproliferative syndrome, type v10.4
12autoimmune lymphoproliferative syndrome, type iib10.4
13evans' syndrome10.3
14eosinophilia10.3
15purpura10.3
16fas-related autoimmune lymphoproliferative syndrome10.3
17faslg-related autoimmune lymphoproliferative syndrome10.3
18casp10-related autoimmune lymphoproliferative syndrome10.3
19autoimmune lymphoproliferative syndrome, type 010.3
20autoimmune lymphoproliferative syndrome with recurrent viral infections10.3
21malaria10.1
22hodgkin lymphoma10.1
23arthritis10.1
24glomerulonephritis10.1
25hemophagocytic lymphohistiocytosis10.1
26hepatitis10.1
27neuromyelitis optica10.1
28thrombocytopenia10.1
29polyarteritis nodosa10.1
30histiocytosis10.1
31pancreatitis10.1
32autoimmune pancreatitis10.1
33chronic active epstein-barr virus infection10.1
34linear iga disease10.1
35rosai-dorfman disease10.1
36cytomegalovirus infection10.1
37nephritis10.1
38myoclonic epilepsy of infancy10.1
39histiocytic sarcoma10.1
40hemolytic anemia10.1
41lung cancer10.1NRAS
42thyroiditis10.1FASLG
43silicosis10.0FAS, FASLG
44lymphomatoid papulosis10.0FASLG, FAS
45hypersensitivity syndrome, carbamazepine-induced10.0FASLG, FAS
46cowpox10.0FAS, CASP8
47tropical spastic paraparesis10.0FASLG, IL2RA
48aplastic anemia10.0FAS, FASLG
49myelodysplastic syndrome10.0NRAS, FASLG, FAS
50precursor b-cell acute lymphoblastic leukemia10.0CASP8, PTPRC

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 Syndrome22 24 FASLG
2 Autoimmune Lymphoproliferative Syndrome, Type Ia22
3 Autoimmune Lymphoproliferative Syndrome, Type Ib22
4 Autoimmune Lymphoproliferative Syndrome, Type 1b24

Anatomical Context for Autoimmune Lymphoproliferative Syndrome

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MalaCards organs/tissues related to Autoimmune Lymphoproliferative Syndrome:

33
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:

64 (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:

7
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/GeneDecks:

(show top 50)    (show all 60)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Immune response CD16 signaling in NK cells60
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 Disease38
9.3FADD, FAS, CASP8
6
Show member pathways
PLK2 and PLK4 events38
Polo-like kinase signaling events in the cell cycle38
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 pathway38
9.3CASP10, CASP8, FADD
10
Show member pathways
9.3FADD, CASP10, CASP8
119.2PRKCD, CASP8, FADD
12
Show member pathways
Immune response BCR pathway60
Fc-epsilon receptor I signaling in mast cells38
9.2PTPRC, PRKCD, NRAS
13
Show member pathways
Development EGFR signaling via PIP360
Development PDGF signaling via MAPK cascades60
Apoptosis and survival Anti apoptotic action of membrane bound ESR160
Signaling of Hepatocyte Growth Factor Receptor38
Development EGFR signaling via small GTPases60
Development Neurotrophin family signaling60
Apoptosis and survival NGF signaling pathway60
Apoptosis and survival Role of CDK5 in neuronal death and survival60
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 pathway38
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 regulation38
Apoptosis and survival FAS signaling cascades60
Caspase cascade in apoptosis38
8.7FAS, FADD, FASLG, CASP10, CASP8
27
Show member pathways
TRAIL signaling pathway38
8.7FAS, FADD, FASLG, CASP8, CASP10
28
Show member pathways
Apoptosis Modulation and Signaling38
Apoptosis38
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 pathways60
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 pathway38
TCR Signaling Pathway38
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 Degradation38
Immune response Antigen presentation by MHC class I60
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 pathway60
TWEAK Signaling Pathway38
Apoptosis Modulation by HSP7038
HIV-1 Nef- Negative effector of Fas and TNF-alpha38
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 pathway38
Regulation of toll-like receptor signaling pathway38
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/GeneDecks:

(show top 50)    (show all 149)
idCompoundScoreTop Affiliating Genes
1(glc)4459.8CASP8, FASLG, FAS
2dutp459.6CASP8, FASLG, FAS
3depsipeptide459.5FAS, FASLG, CASP8
4rottlerin459.4CASP8, FAS, FASLG, PRKCD
5suberoylanilide hydroxamic acid459.4FAS, FASLG, CASP8
6sp 60012545 6110.3CASP8, FASLG, FADD, FAS
7camptothecin45 61 1311.3FASLG, FADD, FAS, CASP8
8okt3459.3IL10, FAS, IL2RA
9phosphatidylserine45 30 1311.2FAS, FASLG, CASP8, PRKCD
102-chlorodeoxyadenosine459.2IL2RA, CASP8, FASLG, FAS
11ceramide459.2FAS, CASP8, FASLG, FADD
12agarose459.2CASP8, PTPRC, FAS, FASLG
13anisomycin45 1310.2FAS, FASLG, IL2RA, CASP8
14chitosan459.2FAS, IL10, SPP1
15ivig459.1FAS, FASLG, IL2RA, IL10
16mitomycin c458.9FAS, FASLG, FADD, IL10, CASP8
17agar458.8FAS, SPP1, NRAS, FASLG
18epinephrine45 26 1310.8FASLG, FAS, IL2RA, CASP8
195fluorouracil458.8FASLG, FAS, IL2RA, FADD, CASP8
20ifn-alpha458.7FAS, CASP8, FASLG, IL2RA, IL10
21rapamycin458.7FASLG, FAS, PRKCD, IL2RA, IL10
22n acetylcysteine458.7PTPRC, FAS, FASLG, IL2RA, CASP8
23polysaccharide458.6FAS, PTPRC, FASLG, CASP8, IL2RA
24rantes458.6FAS, IL10, IL2RA, FASLG
25wortmannin458.6FAS, FASLG, SPP1, PRKCD, CASP8
26paclitaxel45 51 1310.5FASLG, IL2RA, CASP8, CASP10, FAS, FADD
27tgf beta1458.5FAS, FASLG, IL10, CASP8, SPP1
28herbimycin a45 619.5SPP1, IL2RA, FAS, PTPRC
29sb 20358045 619.5CASP8, FASLG, IL10, FAS, SPP1
30doxorubicin45 51 1310.5IL2RA, PRKCD, FASLG, FADD, FAS, CASP8
31ly294002458.4FASLG, FAS, SPP1, IL10, CASP8
32actinomycin d458.3FADD, FAS, SPP1, FASLG, CASP8, CASP10
33ionomycin458.3IL2RA, IL10, PTPRC, FASLG, FAS, PRKCD
34genistein45 30 61 3 26 1313.2FASLG, SPP1, PTPRC, FAS, IL2RA
35mycophenolate mofetil45 51 1310.2IL10, IL2RA, SPP1
36aspartate458.2FAS, FASLG, IL2RA, IL10, SPP1
37heparin45 30 26 1311.2SPP1, IL2RA, FAS, FASLG, PTPRC
38infliximab45 51 1310.1IL2RA, IL10, FAS, PTPRC, SPP1
39tacrolimus45 51 1310.1SPP1, IL10, FASLG, IL2RA, CASP8
40testosterone45 61 26 1310.9FASLG, FADD, PTPRC, FAS, SPP1, IL2RA
41paraffin457.8SPP1, IL2RA, FASLG, FAS, PTPRC, IL10
42cyclosporin a45 30 619.8IL10, SPP1, PTPRC, FAS, FASLG, IL2RA
43h2o2457.5CASP8, FASLG, PRKCD, FAS, PTPRC, SPP1
44serine457.4SPP1, PTPRC, FAS, FADD, PRKCD, CASP8
45dexamethasone45 51 30 1310.4PTPRC, FAS, FASLG, IL2RA, IL10, CASP8
46cisplatin45 51 61 1310.3FAS, CASP8, IL2RA, PRKCD, FASLG, FADD
47cycloheximide457.2CASP8, PRKCD, FADD, SPP1, PTPRC, IL10
48phosphatidylinositol457.1PTPRC, PRKCD, FADD, CASP8, FASLG, IL2RA
49cysteine456.8SPP1, FAS, FADD, FASLG, PRKCD, PTPRC
50tyrosine456.8NRAS, 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/GeneDecks:

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

Biological processes related to Autoimmune Lymphoproliferative Syndrome according to GeneCards/GeneDecks:

(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/GeneDecks:

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

Products for genes affiliated with Autoimmune Lymphoproliferative Syndrome

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  • Antibodies
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Sources for Autoimmune Lymphoproliferative Syndrome

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet