ALPS
MCID: ATM006
MIFTS: 72

Autoimmune Lymphoproliferative Syndrome (ALPS)

Categories: Blood diseases, Cancer diseases, Genetic diseases, Immune diseases, Infectious diseases, Nephrological diseases, Rare diseases
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Aliases & Classifications for Autoimmune Lymphoproliferative Syndrome

MalaCards integrated aliases for Autoimmune Lymphoproliferative Syndrome:

Name: Autoimmune Lymphoproliferative Syndrome 57 11 24 19 42 58 53 43 14 38 71 75
Alps 57 11 24 19 42 58 14
Canale-Smith Syndrome 57 11 19 42 58 73
Autoimmune Lymphoproliferative Syndrome, Type Ia 57 12 71
Autoimmune Lymphoproliferative Syndrome Type 1, Autosomal Dominant 19 5
Autoimmune Lymphoproliferative Syndrome, Type Ib 57 71
Autoimmune Lymphoproliferative Syndrome, Type 1b 28 5
Autoimmune Lymphoproliferative Syndrome, Type 1a 28 5
Autoimmune Lymphoproliferative Syndrome, Type I, Autosomal Dominant 57
Autoimmune Lymphoproliferative Syndrome Type Ia 73
Autoimmune Lymphoproliferative Syndrome Type Ib 73
Autoimmune Lymphoproliferative Syndrome 1a 73
Autoimmune Lymphoproliferative Syndrome 1b 73
Fas Deficiency 19
Alps1a 73
Alps1b 73
Css 73

Characteristics:


Inheritance:

Autosomal dominant,Autosomal recessive 58 , Autosomal dominant 57

Age Of Onset:

All ages 58

OMIM®:

57 (Updated 24-Oct-2022)
Miscellaneous:
onset in early childhood
recessive inheritance has been reported


GeneReviews:

24
Penetrance Alps-fas. a distinction needs to be made between the penetrance of the cellular phenotype (defective fas-mediated apoptosis) and the penetrance of the clinical phenotype (i.e., alps)....

Classifications:

Orphanet: 58  
Rare haematological diseases
Rare immunological diseases


Summaries for Autoimmune Lymphoproliferative Syndrome

MedlinePlus Genetics: 42 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).Autoimmune disorders are also common in ALPS. Autoimmune disorders occur when the immune system malfunctions and attacks the body's own tissues and organs. Most of the autoimmune disorders associated with ALPS target and damage blood cells. For example, the immune system may attack red blood cells (autoimmune hemolytic anemia), white blood cells (autoimmune neutropenia), or platelets (autoimmune thrombocytopenia). Less commonly, autoimmune disorders that affect other organs and tissues occur in people with ALPS. These disorders can damage the kidneys (glomerulonephritis), liver (autoimmune hepatitis), eyes (uveitis), or nerves (Guillain-Barre syndrome). Skin problems, usually rashes or hives (urticaria), can also occur in ALPS.ALPS can have varying patterns of signs and symptoms. Most commonly, lymphoproliferation becomes apparent during childhood. Enlargement of the lymph nodes and spleen frequently occur in affected individuals. Autoimmune disorders typically develop several years later, most frequently as a combination of hemolytic anemia and thrombocytopenia, also called Evans syndrome. People with this classic form of ALPS generally have a near-normal lifespan, but have a greatly increased risk of developing cancer of the immune system cells (lymphoma) compared with the general population.Some people have signs and symptoms that resemble those of ALPS, including lymphoproliferation, lymphadenopathy, splenomegaly, and low blood counts, but the specific pattern of these signs and symptoms or the genetic cause may be different. Researchers disagree whether individuals with these non-classic forms should be considered to have ALPS or a separate condition.

MalaCards based summary: Autoimmune Lymphoproliferative Syndrome, also known as alps, is related to caspase 8 deficiency and autoimmune lymphoproliferative syndrome, type iii. An important gene associated with Autoimmune Lymphoproliferative Syndrome is FASLG (Fas Ligand), and among its related pathways/superpathways are Apoptotic Pathways in Synovial Fibroblasts and ERK Signaling. The drugs Amlodipine and Hormones have been mentioned in the context of this disorder. Affiliated tissues include spleen, liver and t cells, and related phenotypes are splenomegaly and chronic noninfectious lymphadenopathy

GARD: 19 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 have an increased risk of developing cancer of the immune system cells (lymphoma) and may be at increased risk for other cancers. They can also 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. Symptoms may include skin rashes, panniculitis, arthritis, inflammation of blood vessels (vasculitis), mouth sores, premature ovarian failure, and the development of neurological damage. ALPS is caused by genetic changes in the FAS gene in most cases. It is usually inherited in an autosomal dominant manner, although a small number of cases are inherited in an autosomal recessive manner. Some cases are also believed to arise from a genetic change in the lymphocytes that is not inherited, but instead occurs during the course of an individual's lifetime. This type of alteration is called a somatic genetic change.

UniProtKB/Swiss-Prot 73 Autoimmune lymphoproliferative syndrome 1a: A disorder of apoptosis that manifests in early childhood and results in the accumulation of autoreactive lymphocytes. It is characterized by non-malignant lymphadenopathy with hepatosplenomegaly, and autoimmune hemolytic anemia, thrombocytopenia and neutropenia.

Autoimmune lymphoproliferative syndrome 1b: A disorder of apoptosis that manifests in early childhood and results in the accumulation of autoreactive lymphocytes. It is characterized by non-malignant lymphadenopathy with hepatosplenomegaly, and autoimmune hemolytic anemia, thrombocytopenia and neutropenia.

OMIM®: 57 Autoimmune lymphoproliferative syndrome is a heritable disorder of apoptosis, resulting in the accumulation of autoreactive lymphocytes. It manifests in early childhood as nonmalignant lymphadenopathy with hepatosplenomegaly and autoimmune cytopenias (summary by Dowdell et al., 2010). For a review of the autoimmune lymphoproliferative syndromes, see Teachey et al. (2009). (601859) (Updated 24-Oct-2022)

Disease Ontology: 11 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.

Orphanet: 58 A rare, inherited disorder characterized by non-malignant lymphoproliferation, multilineage cytopenias, and a lifelong increased risk of Hodgkin's and non-Hodgkin's lymphoma.

Wikipedia: 75 Autoimmune lymphoproliferative syndrome (ALPS) is a form of lymphoproliferative disorder (LPDs). It... more...

GeneReviews: NBK1108

Related Diseases for Autoimmune 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 Lymphoproliferative Syndrome 3

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

(show top 50) (show all 284)
# Related Disease Score Top Affiliating Genes
1 caspase 8 deficiency 33.6 FADD CASP8 CASP10
2 autoimmune lymphoproliferative syndrome, type iii 33.6 PRKCD LRBA CASP10
3 ras-associated autoimmune leukoproliferative disorder 33.6 PRKCD NRAS LRBA FASLG FAS CASP8
4 lymphoproliferative syndrome 32.3 UNC13D TNFAIP3 STAT3 RASGRP1 PRKCD PRF1
5 autoimmune disease 31.6 TNFAIP3 STAT3 PRF1 IL10 FASLG FAS
6 anemia, autoimmune hemolytic 31.5 LRBA IL10 CTLA4
7 lymphoma 31.5 STAT3 PTPRC ITK FAS CASP8 CASP10
8 hemolytic anemia 31.4 LRBA FASLG FAS CASP10
9 thrombocytopenia 31.4 STAT3 ITK IL10 FASLG FAS CTLA4
10 immune deficiency disease 31.2 PTPRC IL10 FASLG FAS CTLA4
11 burkitt lymphoma 31.1 STAT3 IL10 FAS CASP8
12 evans' syndrome 31.1 LRBA FAS CTLA4
13 hemophagocytic lymphohistiocytosis 31.1 UNC13D PRF1 ITK IL10 CTLA4
14 common variable immunodeficiency 31.1 STAT3 PRKCD LRBA IL10 FAS CTLA4
15 lymphoma, non-hodgkin, familial 31.0 STAT3 PTPRC PRF1 NRAS FAS CTLA4
16 lymphopenia 31.0 ITK IL10 FASLG FAS CTLA4
17 systemic lupus erythematosus 30.9 TNFAIP3 STAT3 RASGRP1 PTPRC IL10 FASLG
18 lymphadenitis 30.8 IL10 FASLG FAS
19 aplastic anemia 30.7 PRF1 IL10 FASLG FAS
20 lymphoproliferative syndrome 1 30.6 UNC13D PRF1 ITK
21 autoimmune hepatitis 30.6 PTPRC IL10 FAS CTLA4
22 breast adenocarcinoma 30.6 STAT3 PTPRC IL10 CASP8
23 pancytopenia 30.6 UNC13D PTPRC PRF1 ITK
24 leukemia, acute myeloid 30.6 STAT3 PTPRC PRF1 NRAS IL10 FASLG
25 combined immunodeficiency 30.5 UNC13D STAT3 RASGRP1 PTPRC PRF1 LRBA
26 sjogren syndrome 30.5 IL10 FASLG FAS
27 esophageal cancer 30.4 STAT3 IL10 FASLG FAS CTLA4 CASP8
28 type 1 diabetes mellitus 30.4 PTPRC IL10 FASLG FAS CTLA4
29 autoimmune lymphoproliferative syndrome, type iia 11.9
30 immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation 11.8
31 coffin-siris syndrome 1 11.5
32 dianzani autoimmune lymphoproliferative disease 11.5
33 immunodeficiency 90 with encephalopathy, functional hyposplenia, and hepatic dysfunction 11.4
34 churg-strauss syndrome 11.1
35 coffin-siris syndrome 12 11.0
36 splenomegaly 10.8
37 vogt-koyanagi-harada disease 10.5 IL10 FASLG FAS CTLA4
38 pneumoconiosis 10.5 IL10 FASLG FAS CASP8
39 severe cutaneous adverse reaction 10.5 PRF1 FASLG FAS CTLA4
40 lymphoproliferative syndrome, x-linked, 1 10.5 UNC13D PRF1 ITK FASLG FAS
41 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 10.5 STAT3 LRBA IL10 CTLA4
42 thyroiditis 10.5 IL10 FASLG CTLA4
43 hashimoto thyroiditis 10.5 NRAS FASLG FAS CTLA4
44 griscelli syndrome, type 2 10.5 UNC13D PRF1 IL10
45 lymphoproliferative syndrome, x-linked, 2 10.5 UNC13D LRBA ITK
46 primary thrombocytopenia 10.5 LRBA IL10 CTLA4
47 shigellosis 10.5 IL10 FASLG FAS
48 autoinflammatory syndrome 10.5 UNC13D PRF1 ADA2
49 b cell deficiency 10.5 STAT3 PRKCD LRBA ITK IL10 CTLA4
50 autoimmune disease of blood 10.5 LRBA IL10 CTLA4

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



Diseases related to Autoimmune Lymphoproliferative Syndrome

Symptoms & Phenotypes for Autoimmune Lymphoproliferative Syndrome

Human phenotypes related to Autoimmune Lymphoproliferative Syndrome:

58 30 (show top 50) (show all 81)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 splenomegaly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001744
2 chronic noninfectious lymphadenopathy 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002730
3 hepatomegaly 58 30 Frequent (33%) Frequent (79-30%)
HP:0002240
4 hypersplenism 58 30 Frequent (33%) Frequent (79-30%)
HP:0001971
5 bruising susceptibility 58 30 Frequent (33%) Frequent (79-30%)
HP:0000978
6 autoimmune hemolytic anemia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001890
7 autoimmune thrombocytopenia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001973
8 neutropenia in presence of anti-neutropil antibodies 58 30 Frequent (33%) Frequent (79-30%)
HP:0001904
9 increased circulating igg level 58 30 Frequent (33%) Frequent (79-30%)
HP:0003237
10 elevated proportion of cd4-negative, cd8-negative, alpha-beta regulatory t cells 58 30 Frequent (33%) Frequent (79-30%)
HP:0002851
11 increased b cell count 58 30 Frequent (33%) Frequent (79-30%)
HP:0005404
12 abnormal circulating interleukin concentration 30 Frequent (33%) HP:0030782
13 hepatitis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012115
14 thyroiditis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100646
15 urticaria 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001025
16 vasculitis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002633
17 reticulocytosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001923
18 eosinophilia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001880
19 decreased circulating igg level 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0004315
20 decreased circulating total igm 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002850
21 t-cell lymphoma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012190
22 b-cell lymphoma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012191
23 increased circulating iga level 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003261
24 antiphospholipid antibody positivity 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003613
25 glomerulonephritis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000099
26 rheumatoid factor positive 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002923
27 coombs-positive hemolytic anemia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0004844
28 abnormal vitamin b12 level 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0040126
29 antinuclear antibody positivity 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003493
30 hodgkin lymphoma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012189
31 antineutrophil antibody positivity 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003453
32 burkitt lymphoma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0030080
33 increased circulating ige level 30 Occasional (7.5%) HP:0003212
34 decreased proportion of cd4-positive helper t cells 30 Occasional (7.5%) HP:0005407
35 decreased specific anti-polysaccharide antibody level 30 Occasional (7.5%) HP:0002848
36 abnormal proportion of cd8-positive t cells 30 Occasional (7.5%) HP:0031393
37 arthritis 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001369
38 renal insufficiency 58 30 Very rare (1%) Very rare (<4-1%)
HP:0000083
39 hydrops fetalis 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001789
40 premature ovarian insufficiency 58 30 Very rare (1%) Very rare (<4-1%)
HP:0008209
41 pulmonary fibrosis 58 30 Very rare (1%) Very rare (<4-1%)
HP:0002206
42 uveitis 58 30 Very rare (1%) Very rare (<4-1%)
HP:0000554
43 headache 58 30 Very rare (1%) Very rare (<4-1%)
HP:0002315
44 basal cell carcinoma 58 30 Very rare (1%) Very rare (<4-1%)
HP:0002671
45 bone marrow hypocellularity 58 30 Very rare (1%) Very rare (<4-1%)
HP:0005528
46 thyroid carcinoma 58 30 Very rare (1%) Very rare (<4-1%)
HP:0002890
47 pulmonary infiltrates 58 30 Very rare (1%) Very rare (<4-1%)
HP:0002113
48 recurrent aphthous stomatitis 58 30 Very rare (1%) Very rare (<4-1%)
HP:0011107
49 panniculitis 58 30 Very rare (1%) Very rare (<4-1%)
HP:0012490
50 gastritis 58 30 Very rare (1%) Very rare (<4-1%)
HP:0005263

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Abdomen Spleen:
splenomegaly

Skin Nails Hair Skin:
urticaria
vasculitis rash

Laboratory Abnormalities:
rheumatoid factor positive
platelet antibody positive
increased levels of igg
increased levels of iga
increased levels of igm
more
Neoplasia:
increased risk of malignant lymphoma

Abdomen Liver:
hepatomegaly

Hematology:
eosinophilia
iron deficiency anemia
autoimmune hemolytic anemia
autoimmune thrombocytopenia
autoimmune neutropenia

Immunology:
chronic noninfectious lymphadenopathy
reduced delayed hypersensitivity
defective lymphocyte apoptosis
increased number of peripheral cd3+ t cells
increased number of cd4-/cd8- t cells expressing alpha/beta t-cell receptors
more

Clinical features from OMIM®:

601859 (Updated 24-Oct-2022)

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 10.29 BCL2L11 FADD FAS IL10 RASGRP1 TNFAIP3
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 10.29 BCL2L11 FADD FAS FASLG IL10 RASGRP1
3 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 10.29 CASP8
4 no effect GR00402-S-1 10.18 ACTA2 ADA2 BCL2L11 CASP10 CASP8 CTLA4
5 no effect GR00402-S-2 10.18 ACTA2 ADA2 BCL2L11 CASP10 CASP8 CTLA4
6 Reduced mammosphere formation GR00396-S 9.5 FADD FAS FASLG ITK NRAS PTPRC

MGI Mouse Phenotypes related to Autoimmune Lymphoproliferative Syndrome:

45 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.37 BCL2L11 CASP8 CTLA4 FADD FAS FASLG
2 endocrine/exocrine gland MP:0005379 10.33 BCL2L11 CASP8 CTLA4 FADD FAS FASLG
3 liver/biliary system MP:0005370 10.32 CASP8 CTLA4 FADD FAS FASLG IL10
4 nervous system MP:0003631 10.31 BCL2L11 CASP8 FADD FAS FASLG IL10
5 growth/size/body region MP:0005378 10.29 BCL2L11 CASP8 FADD FAS IL10 ITK
6 immune system MP:0005387 10.25 BCL2L11 CASP8 CTLA4 FADD FAS FASLG
7 cellular MP:0005384 10.22 BCL2L11 CASP8 FADD FAS FASLG IL10
8 neoplasm MP:0002006 10.21 BCL2L11 CASP8 FAS FASLG IL10 NRAS
9 normal MP:0002873 10.2 BCL2L11 CTLA4 FAS FASLG IL10 NRAS
10 renal/urinary system MP:0005367 10.18 BCL2L11 CASP8 FAS FASLG PRKCD PTPRC
11 cardiovascular system MP:0005385 10.18 ACTA2 BCL2L11 CASP8 CTLA4 FADD FAS
12 digestive/alimentary MP:0005381 10.17 CTLA4 FADD FAS FASLG IL10 LRBA
13 hematopoietic system MP:0005397 9.89 BCL2L11 CASP8 CTLA4 FADD FAS FASLG
14 respiratory system MP:0005388 9.86 CASP8 CTLA4 FAS FASLG IL10 PTPRC
15 skeleton MP:0005390 9.85 CTLA4 FAS FASLG IL10 NRAS PRKCD
16 integument MP:0010771 9.4 BCL2L11 CASP8 CTLA4 FADD FAS FASLG

Drugs & Therapeutics for Autoimmune Lymphoproliferative Syndrome

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

(show top 50) (show all 56)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Amlodipine Approved Phase 4 88150-42-9 2162
2 Hormones Phase 4
3 Antihypertensive Agents Phase 4
4 Calcium, Dietary Phase 4
5 calcium channel blockers Phase 4
6 Vasodilator Agents Phase 4
7
Calcium Nutraceutical Phase 4 7440-70-2 271
8
Betamethasone Approved, Vet_approved Phase 3 378-44-9 9782
9 glucocorticoids Phase 3
10
Betamethasone acetate Phase 3
11 Betamethasone-17,21-dipropionate Phase 3
12
Betamethasone Valerate Phase 3 2152-44-5
13
Betamethasone sodium phosphate Phase 3
14
Betamethasone benzoate Phase 3
15 Hormone Antagonists Phase 3
16 Respiratory System Agents Phase 3
17 Anti-Inflammatory Agents Phase 3
18 Anti-Asthmatic Agents Phase 3
19
Valproic acid Approved, Investigational Phase 1, Phase 2 99-66-1 3121
20
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
21
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 5284616 6436030
22
Clotrimazole Approved, Vet_approved Phase 1, Phase 2 23593-75-1 2812
23
Fludarabine Approved Phase 2 75607-67-9, 21679-14-1 30751 657237
24
Melphalan Approved Phase 2 148-82-3 4053 460612
25
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
26
Alemtuzumab Approved, Investigational Phase 2 216503-57-0
27 Anti-Infective Agents Phase 1, Phase 2
28 Anticonvulsants Phase 1, Phase 2
29 Psychotropic Drugs Phase 1, Phase 2
30 Neurotransmitter Agents Phase 1, Phase 2
31 Antifungal Agents Phase 1, Phase 2
32 Antibiotics, Antitubercular Phase 1, Phase 2
33 Anti-Bacterial Agents Phase 1, Phase 2
34 Immunosuppressive Agents Phase 2
35 Immunologic Factors Phase 2
36 Antineoplastic Agents, Alkylating Phase 2
37 Antineoplastic Agents, Immunological Phase 2
38 Alkylating Agents Phase 2
39
Levoleucovorin Approved, Experimental, Investigational Phase 1 68538-85-2, 58-05-9, 73951-54-9 149436 6006
40
Pyrimethamine Approved, Investigational, Vet_approved Phase 1 58-14-0, 19085-09-7 4993
41
Sulfadoxine Approved, Investigational Phase 1 2447-57-6 17134
42
Folic acid Approved, Nutraceutical, Vet_approved Phase 1 59-30-3 6037
43 Folic Acid Antagonists Phase 1
44 Folate Phase 1
45 Antimalarials Phase 1
46 Antiprotozoal Agents Phase 1
47 Vitamin B9 Phase 1
48 Antiparasitic Agents Phase 1
49 Vitamin B Complex Phase 1
50 Fanasil, pyrimethamine drug combination Phase 1

Interventional clinical trials:

(show all 15)
# Name Status NCT ID Phase Drugs
1 Azelnidipine and Amlodipine Anti-Coronary Atherosclerotic Trial in Hypertensive Patients Undergoing Coronary Intervention by Serial Volumetric Intravascular Ultrasound Analysis in Junten Medical University (ALPS-J) Completed NCT00294567 Phase 4 Calcium channel blockers (amlodipine, azelnidipine)
2 Antenatal Late Preterm Steroids (ALPS): A Randomized Placebo-Controlled Trial Completed NCT01222247 Phase 3 Betamethasone;Placebo
3 Pilot (Phase I-II) Study of Valproic Acid (Depakote) for the Treatment of the Autoimmune Lymphoproliferative Syndrome (ALPS) Completed NCT00605657 Phase 1, Phase 2 Valproic Acid
4 Sirolimus for Patients With Chronic and/or Refractory Autoimmune Cytopenias: A Pilot Series Completed NCT00392951 Phase 1, Phase 2 sirolimus
5 A Study of Hematopoietic Stem Cell Transplantation (HSCT) in Immune Function Disorders Using a Reduced Intensity Preparatory Regime Recruiting NCT01821781 Phase 2 Transplant preparative regimen of alemtuzumab, fludarabine, thiotepa, and melphalan
6 Pilot (Phase I-II) Study of Pyrimethamine (Daraprim) for the Treatment of the Autoimmune Lymphoproliferative Syndrome (ALPS) Completed NCT00065390 Phase 1 Pyrimethamine
7 Pilot Study of Pyrimethamine and Sulfadoxine (Fansidar) for the Treatment of Individuals With the Autoimmune Lymphoproliferative Syndrome (ALPS) Completed NCT00013689 Phase 1 Fansidar (pyrimethamine and sulfadoxine)
8 Evaluation of the Practice of the TEP Choline in Provence - Alps and Côte d'Azur at Patients With Prostate Cancer - Multicentre Retrospective Study. Unknown status NCT03201380
9 Study of Fluorodeoxyglucose Positron Emission Tomography (FDG-PET) for the Evaluation of the Autoimmune Lymphoproliferative Syndrome (ALPS) and ALPS-Associated Lymphoma Completed NCT00068146
10 Correlation Between the Incidence of COVID-19 in Nursing-homes and the Profile of Nursing Homes in the French Alps Completed NCT04695457
11 Study of the Immunopathogenesis, Natural History, and Genetics of Autoimmune Lymphoproliferative Syndrome (ALPS) Associated With an Expansion of CD4-8-/TCR Alpha/Beta+ T Cells Recruiting NCT00001350
12 Clinical Outcomes of the ALPS Proximal Humerus Plating System Recruiting NCT03328650
13 Augsburg Longitudinal Plasma Study (ALPS) to Study Liquid Biopsy (LBx) as a Tool for Diagnostic Support, Assessment of Disease Progression, and Identification of Mutations During Disease Course in Patients With Solid Neoplasms Receiving Palliative Treatment Recruiting NCT05245136
14 Conception of a Diagnosis, Prognosis and Therapeutic Decision Tool for Patients With Autoimmunity and Inflammation Not yet recruiting NCT04902807
15 Use of Fluorodeoxyglucose Positron Emission Tomography With Computed Tomography for the Evaluation of Autoimmune Lymphoproliferative Syndrome Lymphadenopathy Suggestive of Lymphoma Withdrawn NCT01672918

Search NIH Clinical Center for Autoimmune Lymphoproliferative Syndrome

Cochrane evidence based reviews: autoimmune lymphoproliferative syndrome

Genetic Tests for Autoimmune Lymphoproliferative Syndrome

Genetic tests related to Autoimmune Lymphoproliferative Syndrome:

# Genetic test Affiliating Genes
1 Autoimmune Lymphoproliferative Syndrome, Type 1b 28 FASLG
2 Autoimmune Lymphoproliferative Syndrome, Type 1a 28

Anatomical Context for Autoimmune Lymphoproliferative Syndrome

Organs/tissues related to Autoimmune Lymphoproliferative Syndrome:

MalaCards : Spleen, Liver, T Cells, Skin, Bone Marrow, Bone, Thyroid
ODiseA: Blood And Bone Marrow

Publications for Autoimmune Lymphoproliferative Syndrome

Articles related to Autoimmune Lymphoproliferative Syndrome:

(show top 50) (show all 3850)
# Title Authors PMID Year
1
Autoimmune lymphoproliferative syndrome with somatic Fas mutations. 53 62 24 57 5
15459302 2004
2
Fas ligand mutation in a patient with systemic lupus erythematosus and lymphoproliferative disease. 53 62 24 57 5
8787672 1996
3
Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome. 53 62 24 57 5
7540117 1995
4
Autoimmune lymphoproliferative syndrome (ALPS) in a child from consanguineous parents: a dominant or recessive disease? 62 24 57 5
10709732 2000
5
Missense mutations in the Fas gene resulting in autoimmune lymphoproliferative syndrome: a molecular and immunological analysis. 53 62 57 5
9028321 1997
6
Mutations in Fas associated with human lymphoproliferative syndrome and autoimmunity. 24 57 5
7539157 1995
7
The development of lymphomas in families with autoimmune lymphoproliferative syndrome with germline Fas mutations and defective lymphocyte apoptosis. 53 62 24 57
11418480 2001
8
Lymphoproliferative syndrome with autoimmunity: A possible genetic basis for dominant expression of the clinical manifestations. 53 62 24 5
10515860 1999
9
Defective CD95/APO-1/Fas signal complex formation in the human autoimmune lymphoproliferative syndrome, type Ia. 53 62 24 5
10200300 1999
10
Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance. 53 62 24 5
10090885 1999
11
The clinical spectrum in a large kindred with autoimmune lymphoproliferative syndrome caused by a Fas mutation that impairs lymphocyte apoptosis. 53 62 24 5
9821419 1998
12
Fas gene mutations in the Canale-Smith syndrome, an inherited lymphoproliferative disorder associated with autoimmunity. 62 57 5
8929361 1996
13
A novel homozygous Fas ligand mutation leads to early protein truncation, abrogation of death receptor and reverse signaling and a severe form of the autoimmune lymphoproliferative syndrome. 62 24 5
25451160 2014
14
Autoimmune lymphoproliferative syndrome caused by a homozygous null FAS ligand (FASLG) mutation. 62 24 5
22857792 2013
15
FAS haploinsufficiency is a common disease mechanism in the human autoimmune lymphoproliferative syndrome. 62 24 5
21490157 2011
16
Onset of autoimmune lymphoproliferative syndrome (ALPS) in humans as a consequence of genetic defect accumulation. 62 24 57
21183795 2011
17
Somatic FAS mutations are common in patients with genetically undefined autoimmune lymphoproliferative syndrome. 62 24 57
20360470 2010
18
Fas preassociation required for apoptosis signaling and dominant inhibition by pathogenic mutations. 62 24 5
10875918 2000
19
Chronic lymphadenopathy simulating malignant lymphoma. 57 5
4165068 1967
20
Residual CD95-pathway function in children with autoimmune lymphoproliferative syndrome is independent from clinical state and genotype of CD95 mutation. 53 62 5
18948840 2009
21
Inherited perforin and Fas mutations in a patient with autoimmune lymphoproliferative syndrome and lymphoma. 53 62 5
15459303 2004
22
Germline FAS gene mutation in a case of ALPS and NLP Hodgkin lymphoma. 53 62 5
11830507 2002
23
Somatic Fas mutations in non-Hodgkin's lymphoma: association with extranodal disease and autoimmunity. 53 62 57
9787134 1998
24
Novel Fas (CD95/APO-1) mutations in infants with a lymphoproliferative disorder. 24 5
9533447 1998
25
Human autoimmune lymphoproliferative syndrome, a defect in the apoptosis-inducing Fas receptor: a lesson from the mouse model. 53 62 57
9609991 1998
26
Clincal, immunologic, and genetic features of an autoimmune lymphoproliferative syndrome associated with abnormal lymphocyte apoptosis. 53 62 57
9028957 1997
27
A novel lymphoproliferative/autoimmune syndrome resembling murine lpr/gld disease. 24 57
1386609 1992
28
Evolution of disease activity and biomarkers on and off rapamycin in 28 patients with autoimmune lymphoproliferative syndrome. 62 5
27789675 2017
29
Diagnosis of autoimmune lymphoproliferative syndrome caused by FAS deficiency in adults. 62 5
22983577 2013
30
Autoimmune pancreatitis in the autoimmune lymphoproliferative syndrome (ALPS): a sheep in wolves' clothing? 62 5
23407489 2013
31
Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal-transducing death domain: molecular mechanisms and clinical penetrance. 62 5
22237435 2012
32
Advances in the management and understanding of autoimmune lymphoproliferative syndrome (ALPS). 62 57
19930184 2010
33
FAS-L, IL-10, and double-negative CD4- CD8- TCR alpha/beta+ T cells are reliable markers of autoimmune lymphoproliferative syndrome (ALPS) associated with FAS loss of function. 53 62 24
19176318 2009
34
Co-inherited mutations of Fas and caspase-10 in development of the autoimmune lymphoproliferative syndrome. 53 62 24
17999750 2007
35
Dominant inhibition of Fas ligand-mediated apoptosis due to a heterozygous mutation associated with autoimmune lymphoproliferative syndrome (ALPS) Type Ib. 53 62 24
17605793 2007
36
Genetic alterations in caspase-10 may be causative or protective in autoimmune lymphoproliferative syndrome. 53 62 24
16446975 2006
37
Identical phenotype in patients with somatic and germline CD95 mutations requires a new diagnostic approach to autoimmune lymphoproliferative syndrome. 53 62 24
16291365 2005
38
Haploinsufficiency, rather than the effect of an excessive production of soluble CD95 (CD95{Delta}TM), is the basis for ALPS Ia in a family with duplicated 3' splice site AG in CD95 intron 5 on one allele. 53 62 24
15870181 2005
39
Bilateral uveitis in a patient with autoimmune lymphoproliferative syndrome. 62 57
15767081 2005
40
Development of lymphoma in Autoimmune Lymphoproliferative Syndrome (ALPS) and its relationship to Fas gene mutations. 53 62 24
15160902 2004
41
Pleiotropic defects in lymphocyte activation caused by caspase-8 mutations lead to human immunodeficiency. 53 62 24
12353035 2002
42
Caspase-10 is an initiator caspase in death receptor signaling. 53 62 24
11717445 2001
43
Description of serologic features in autoimmune lymphoproliferative syndrome. 53 62 24
10960521 2000
44
Inherited human Caspase 10 mutations underlie defective lymphocyte and dendritic cell apoptosis in autoimmune lymphoproliferative syndrome type II. 53 62 24
10412980 1999
45
The molecular basis for apoptotic defects in patients with CD95 (Fas/Apo-1) mutations. 62 5
9927496 1999
46
Pathological findings in human autoimmune lymphoproliferative syndrome. 53 62 24
9811346 1998
47
The Canale-Smith syndrome. 62 57
9148156 1997
48
Autoimmune lymphoproliferative syndrome caused by a homozygous FasL mutation that disrupts FasL assembly. 62 24
26456038 2016
49
Sirolimus is effective in relapsed/refractory autoimmune cytopenias: results of a prospective multi-institutional trial. 62 24
26504182 2016
50
Decreased activation-induced cell death by EBV-transformed B-cells from a patient with autoimmune lymphoproliferative syndrome caused by a novel FASLG mutation. 62 24
26334989 2015

Variations for Autoimmune Lymphoproliferative Syndrome

ClinVar genetic disease variations for Autoimmune Lymphoproliferative Syndrome:

5 (show top 50) (show all 360)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FAS NM_000043.6(FAS):c.232del (p.Asp78fs) DEL Pathogenic
16497 rs606231361 GRCh37: 10:90767489-90767489
GRCh38: 10:89007732-89007732
2 FAS NM_000043.6(FAS):c.334+2dup DUP Pathogenic
16498 rs606231362 GRCh37: 10:90767595-90767596
GRCh38: 10:89007838-89007839
3 FAS NM_000043.6(FAS):c.721A>C (p.Thr241Pro) SNV Pathogenic
16499 rs121913076 GRCh37: 10:90773920-90773920
GRCh38: 10:89014163-89014163
4 FAS NM_000043.6(FAS):c.569-2A>C SNV Pathogenic
16500 rs606231363 GRCh37: 10:90771754-90771754
GRCh38: 10:89011997-89011997
5 FAS NM_000043.6(FAS):c.361C>T (p.Arg121Trp) SNV Pathogenic
16502 rs121913078 GRCh37: 10:90768672-90768672
GRCh38: 10:89008915-89008915
6 FAS NM_000043.6(FAS):c.779A>T (p.Asp260Val) SNV Pathogenic
16504 rs28929498 GRCh37: 10:90773978-90773978
GRCh38: 10:89014221-89014221
7 FAS NM_000043.6(FAS):c.809C>T (p.Thr270Ile) SNV Pathogenic
Uncertain Significance
16506 rs121913081 GRCh37: 10:90774008-90774008
GRCh38: 10:89014251-89014251
8 FAS NM_000043.6(FAS):c.651+2T>A SNV Pathogenic
Pathogenic
Pathogenic
16507 rs267607122 GRCh37: 10:90771840-90771840
GRCh38: 10:89012083-89012083
9 FAS NM_000043.6(FAS):c.73G>A (p.Ala25Thr) SNV Pathogenic
16508 rs606231364 GRCh37: 10:90762828-90762828
GRCh38: 10:89003071-89003071
10 FAS NM_000043.6(FAS):c.968_987dup (p.Glu330fs) DUP Pathogenic
16509 rs606231365 GRCh37: 10:90774166-90774167
GRCh38: 10:89014409-89014410
11 FAS NM_000043.6(FAS):c.740G>C (p.Gly247Ala) SNV Pathogenic
16513 rs121913085 GRCh37: 10:90773939-90773939
GRCh38: 10:89014182-89014182
12 FAS NM_000043.6(FAS):c.692_693insT (p.Lys231fs) INSERT Pathogenic
16515 rs606231366 GRCh37: 10:90773891-90773892
GRCh38: 10:89014134-89014135
13 FAS NM_000043.6(FAS):c.778G>T (p.Asp260Tyr) SNV Pathogenic
16516 rs121913086 GRCh37: 10:90773977-90773977
GRCh38: 10:89014220-89014220
14 FAS NM_000043.6(FAS):c.652-1G>A SNV Pathogenic
664079 rs1589488463 GRCh37: 10:90773099-90773099
GRCh38: 10:89013342-89013342
15 FAS NM_000043.6(FAS):c.657_658del (p.Val220fs) DEL Pathogenic
692047 rs1589488494 GRCh37: 10:90773105-90773106
GRCh38: 10:89013348-89013349
16 FAS NM_000043.6(FAS):c.178del (p.His60fs) DEL Pathogenic
802617 rs1589465172 GRCh37: 10:90762932-90762932
GRCh38: 10:89003175-89003175
17 FAS NM_000043.6(FAS):c.415del (p.Val139fs) DEL Pathogenic
802618 rs1589478691 GRCh37: 10:90768726-90768726
GRCh38: 10:89008969-89008969
18 FAS NM_000043.6(FAS):c.651+2_651+3insTGAAAT INSERT Pathogenic
802619 rs1589485636 GRCh37: 10:90771839-90771840
GRCh38: 10:89012082-89012083
19 overlap with 5 genes NC_000010.11:g.(?_88989499)_(89247668_?)del DEL Pathogenic
831277 GRCh37: 10:90749256-91007425
GRCh38:
20 FAS NM_000043.6(FAS):c.563_566del (p.Val188fs) DEL Pathogenic
861416 rs1207744817 GRCh37: 10:90770564-90770567
GRCh38: 10:89010807-89010810
21 FAS NM_000043.6(FAS):c.816del (p.Glu272fs) DEL Pathogenic
1357498 GRCh37: 10:90774014-90774014
GRCh38: 10:89014257-89014257
22 FAS NM_000043.6(FAS):c.182_183insTTAT (p.Lys61fs) INSERT Pathogenic
1413808 GRCh37: 10:90762937-90762938
GRCh38: 10:89003180-89003181
23 overlap with 24 genes NC_000001.10:g.(?_171605065)_(173962123_?)del DEL Pathogenic
1367461 GRCh37: 1:171605065-173962123
GRCh38:
24 FASLG NM_000639.3(FASLG):c.343C>T (p.Arg115Ter) SNV Pathogenic
1428184 GRCh37: 1:172628684-172628684
GRCh38: 1:172659544-172659544
25 ACTA2 and overlap with 1 gene(s) NC_000010.10:g.(?_90749963)_(90750683_?)del DEL Pathogenic
1459384 GRCh37: 10:90749963-90750683
GRCh38:
26 FAS NM_000043.6(FAS):c.312dup (p.Arg105Ter) DUP Pathogenic
1443489 GRCh37: 10:90767571-90767572
GRCh38: 10:89007814-89007815
27 FAS NM_000043.6(FAS):c.259G>T (p.Glu87Ter) SNV Pathogenic
1451181 GRCh37: 10:90767519-90767519
GRCh38: 10:89007762-89007762
28 FAS NM_000043.6(FAS):c.38del (p.Thr13fs) DEL Pathogenic
851315 rs1842954041 GRCh37: 10:90762793-90762793
GRCh38: 10:89003036-89003036
29 FAS NM_000043.6(FAS):c.676+1G>T SNV Pathogenic
1070181 GRCh37: 10:90773125-90773125
GRCh38: 10:89013368-89013368
30 FAS NM_000043.6(FAS):c.442A>T (p.Lys148Ter) SNV Pathogenic
1070958 GRCh37: 10:90768753-90768753
GRCh38: 10:89008996-89008996
31 FAS NM_000043.6(FAS):c.110T>A (p.Leu37Ter) SNV Pathogenic
580709 rs1564686301 GRCh37: 10:90762865-90762865
GRCh38: 10:89003108-89003108
32 FAS NM_000043.6(FAS):c.676+1G>A SNV Pathogenic
645697 rs1589488640 GRCh37: 10:90773125-90773125
GRCh38: 10:89013368-89013368
33 overlap with 11 genes NC_000010.11:g.(?_88770845)_(89328078_?)del DEL Pathogenic
832890 GRCh37: 10:90530602-91087835
GRCh38:
34 FAS NM_000043.6(FAS):c.403del (p.Cys135fs) DEL Pathogenic
1455090 GRCh37: 10:90768708-90768708
GRCh38: 10:89008951-89008951
35 FAS NM_000043.6(FAS):c.749G>A (p.Arg250Gln) SNV Pathogenic
1070182 GRCh37: 10:90773948-90773948
GRCh38: 10:89014191-89014191
36 FAS NM_000043.6(FAS):c.817C>T (p.Gln273Ter) SNV Pathogenic
Pathogenic
16501 rs121913077 GRCh37: 10:90774016-90774016
GRCh38: 10:89014259-89014259
37 FAS NM_000043.6(FAS):c.695A>G (p.Tyr232Cys) SNV Pathogenic
Uncertain Significance
16503 rs121913079 GRCh37: 10:90773894-90773894
GRCh38: 10:89014137-89014137
38 FAS NM_000043.6(FAS):c.749G>C (p.Arg250Pro) SNV Pathogenic
Pathogenic
16505 rs121913080 GRCh37: 10:90773948-90773948
GRCh38: 10:89014191-89014191
39 FAS NM_000043.6(FAS):c.755del (p.Asn252fs) DEL Pathogenic
578533 rs1564699214 GRCh37: 10:90773953-90773953
GRCh38: 10:89014196-89014196
40 FAS NM_000043.6(FAS):c.651+1G>T SNV Pathogenic
Pathogenic/Likely Pathogenic
650729 rs1564696849 GRCh37: 10:90771839-90771839
GRCh38: 10:89012082-89012082
41 FAS NM_000043.6(FAS):c.617del (p.Asn206fs) DEL Pathogenic
847065 rs1848558128 GRCh37: 10:90771801-90771801
GRCh38: 10:89012044-89012044
42 FAS NM_000043.6(FAS):c.879_880del (p.Leu294fs) DEL Pathogenic
265400 rs886039524 GRCh37: 10:90774078-90774079
GRCh38: 10:89014321-89014322
43 FAS NM_000043.6(FAS):c.644T>A (p.Leu215Ter) SNV Pathogenic
1071139 GRCh37: 10:90771831-90771831
GRCh38: 10:89012074-89012074
44 FAS NM_000043.6(FAS):c.657del (p.Val220fs) DEL Pathogenic
1074734 GRCh37: 10:90773105-90773105
GRCh38: 10:89013348-89013348
45 FAS NM_000043.6(FAS):c.46_47del (p.Val15_Ala16insTer) DEL Pathogenic
872242 rs1848019699 GRCh37: 10:90762801-90762802
GRCh38: 10:89003044-89003045
46 FAS NM_000043.6(FAS):c.332A>G (p.His111Arg) SNV Pathogenic
1395111 GRCh37: 10:90767592-90767592
GRCh38: 10:89007835-89007835
47 FAS NM_000043.6(FAS):c.707_708insG (p.Ile236fs) INSERT Pathogenic
1373595 GRCh37: 10:90773906-90773907
GRCh38: 10:89014149-89014150
48 FAS NM_000043.6(FAS):c.528G>A (p.Trp176Ter) SNV Pathogenic
1457614 GRCh37: 10:90770532-90770532
GRCh38: 10:89010775-89010775
49 FASLG NM_000639.3(FASLG):c.473_556del (p.Met158_Glu185del) DEL Pathogenic
Not Provided
16495 rs80358236 GRCh37: 1:172634782-172634865
GRCh38: 1:172665642-172665725
50 FAS NM_000043.6(FAS):c.748C>T (p.Arg250Ter) SNV Pathogenic/Likely Pathogenic
802620 rs778993919 GRCh37: 10:90773947-90773947
GRCh38: 10:89014190-89014190

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

73 (show all 23)
# Symbol AA change Variation ID SNP ID
1 FAS p.Thr28Ala VAR_013417
2 FAS p.Cys82Arg VAR_013418
3 FAS p.Arg121Trp VAR_013419 rs121913078
4 FAS p.Tyr232Cys VAR_013423 rs121913079
5 FAS p.Thr241Lys VAR_013424 rs201072885
6 FAS p.Thr241Pro VAR_013425 rs121913076
7 FAS p.Arg250Pro VAR_013426 rs121913080
8 FAS p.Arg250Gln VAR_013427
9 FAS p.Ala257Asp VAR_013428
10 FAS p.Asp260Gly VAR_013429
11 FAS p.Asp260Tyr VAR_013430 rs121913086
12 FAS p.Asp260Val VAR_013431 rs28929498
13 FAS p.Thr270Ile VAR_013433 rs121913081
14 FAS p.Glu272Gly VAR_013434
15 FAS p.Glu272Lys VAR_013435
16 FAS p.Ile310Ser VAR_013438
17 FAS p.Ile262Ser VAR_058910
18 FAS p.Val249Leu VAR_065128
19 FAS p.Gly253Asp VAR_065129
20 FAS p.Gly253Ser VAR_065130
21 FAS p.Ile259Arg VAR_065131
22 FAS p.Thr270Lys VAR_065132
23 FASLG p.Cys202Ser VAR_075568

Expression for Autoimmune Lymphoproliferative Syndrome

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

Pathways for Autoimmune Lymphoproliferative Syndrome

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

(show top 50) (show all 54)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.83 PRKCD NRAS FASLG FAS FADD CASP8
2
Show member pathways
13.79 ACTA2 BCL2L11 CASP10 CASP8 FADD FAS
3 13.75 ACTA2 BCL2L11 CASP10 CASP8 FADD FAS
4
Show member pathways
13.62 STAT3 PRKCD NRAS IL10 FASLG FAS
5
Show member pathways
13.43 STAT3 PRKCD NRAS ITK IL10 FASLG
6
Show member pathways
13.41 UNC13D TNFAIP3 STAT3 RASGRP1 PTPRC PRKCD
7
Show member pathways
13.32 STAT3 PRKCD NRAS IL10 FASLG CASP8
8
Show member pathways
13.3 PTPRC PRKCD NRAS IL10 FASLG FAS
9
Show member pathways
12.9 BCL2L11 CASP10 CASP8 FADD FAS FASLG
10
Show member pathways
12.9 STAT3 RASGRP1 PTPRC PRKCD NRAS ITK
11
Show member pathways
12.87 STAT3 PRKCD NRAS ITK FASLG FAS
12
Show member pathways
12.81 TNFAIP3 STAT3 NRAS FASLG FAS FADD
13
Show member pathways
12.76 STAT3 PRKCD NRAS CASP8 ACTA2
14
Show member pathways
12.71 STAT3 PRKCD NRAS CASP8 BCL2L11
15
Show member pathways
12.7 TNFAIP3 STAT3 PRKCD NRAS FASLG FAS
16
Show member pathways
12.67 STAT3 PTPRC PRKCD NRAS IL10 FADD
17
Show member pathways
12.65 STAT3 PRKCD FASLG FAS FADD CASP8
18
Show member pathways
12.64 FASLG FAS FADD CASP8 CASP10 BCL2L11
19
Show member pathways
12.63 TNFAIP3 PRKCD FASLG FAS FADD CASP8
20
Show member pathways
12.53 STAT3 PRKCD NRAS CASP8 CASP10
21
Show member pathways
12.48 STAT3 PRF1 NRAS FASLG FAS FADD
22
Show member pathways
12.44 TNFAIP3 FADD CASP8 CASP10
23 12.44 RASGRP1 PRKCD NRAS FASLG FAS
24
Show member pathways
12.42 PRKCD NRAS CASP8 CASP10
25
Show member pathways
12.4 FASLG FAS FADD CASP8 CASP10
26 12.37 CTLA4 FAS FASLG IL10 ITK PTPRC
27
Show member pathways
12.33 CASP10 CASP8 FADD FAS FASLG PRF1
28
Show member pathways
12.33 BCL2L11 CASP8 FADD FAS FASLG PRF1
29
Show member pathways
12.28 STAT3 FADD CASP8 CASP10
30
Show member pathways
12.26 PTPRC ITK CTLA4 ACTA2
31
Show member pathways
12.21 FASLG FAS CASP8 CASP10
32
Show member pathways
12.2 FASLG FAS FADD CASP8 CASP10
33
Show member pathways
12.18 RASGRP1 PTPRC ITK IL10 CTLA4
34
Show member pathways
12.16 CASP8 FADD FAS FASLG
35
Show member pathways
12.12 TNFAIP3 PTPRC PRKCD PRF1 FASLG FAS
36
Show member pathways
12.06 PRKCD NRAS FADD CASP8 CASP10
37 11.95 RASGRP1 NRAS CASP8 CASP10
38 11.93 STAT3 IL10 FASLG
39 11.9 NRAS FASLG BCL2L11
40
Show member pathways
11.84 CASP10 CASP8 NRAS PRKCD
41 11.83 STAT3 PRKCD NRAS IL10 CASP8 ACTA2
42 11.77 PRF1 IL10 FASLG FAS CTLA4 CASP8
43 11.74 NRAS FADD CASP8
44 11.59 PRKCD FASLG FAS CASP8
45 11.56 IL10 FADD CASP8
46 11.56 RASGRP1 PTPRC ITK IL10
47 11.55 FASLG FAS CASP8 BCL2L11
48 11.39 BCL2L11 CASP8 FAS
49
Show member pathways
11.39 IL10 FASLG FAS
50 11.38 PRF1 FASLG FAS FADD CASP8

GO Terms for Autoimmune Lymphoproliferative Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 membrane raft GO:0045121 9.91 PTPRC FASLG FAS FADD CASP8
2 death-inducing signaling complex GO:0031264 9.63 FAS FADD CASP8
3 ripoptosome GO:0097342 9.43 FADD CASP8 CASP10
4 CD95 death-inducing signaling complex GO:0031265 9.23 FAS FADD CASP8 CASP10

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.46 STAT3 RASGRP1 PRKCD NRAS ITK IL10
2 positive regulation of apoptotic process GO:0043065 10.15 BCL2L11 CASP8 CTLA4 FADD FAS FASLG
3 regulation of apoptotic process GO:0042981 10.06 FAS FADD CASP8 CASP10 BCL2L11
4 positive regulation of tumor necrosis factor production GO:0032760 10.03 STAT3 RASGRP1 PTPRC FADD
5 apoptotic signaling pathway GO:0097190 10.01 FASLG FADD CASP8 CASP10
6 extrinsic apoptotic signaling pathway via death domain receptors GO:0008625 9.97 FASLG FADD CASP8
7 extrinsic apoptotic signaling pathway in absence of ligand GO:0097192 9.95 BCL2L11 FADD FAS
8 T cell activation GO:0042110 9.92 RASGRP1 PTPRC ITK CASP8
9 apoptotic process GO:0006915 9.91 BCL2L11 CASP10 CASP8 FADD FAS FASLG
10 B cell proliferation GO:0042100 9.86 RASGRP1 PTPRC PRKCD IL10
11 TRAIL-activated apoptotic signaling pathway GO:0036462 9.83 FADD CASP8
12 necroptotic signaling pathway GO:0097527 9.63 FASLG FAS FADD
13 extrinsic apoptotic signaling pathway GO:0097191 9.32 PTPRC FASLG FAS FADD CASP8

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

# Name GO ID Score Top Affiliating Genes
1 protein kinase binding GO:0019901 10.03 STAT3 PTPRC PRKCD LRBA BCL2L11 ACTA2
2 tumor necrosis factor receptor binding GO:0005164 9.63 FASLG FADD CASP8
3 death receptor binding GO:0005123 9.43 FASLG FADD CASP8
4 death effector domain binding GO:0035877 9.1 FADD CASP8 CASP10

Sources for Autoimmune Lymphoproliferative Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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