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ALPS
MCID: ATM006
MIFTS: 74

Autoimmune Lymphoproliferative Syndrome (ALPS)

Categories: Blood diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Autoimmune Lymphoproliferative Syndrome

About this section

MalaCards integrated aliases for Autoimmune Lymphoproliferative Syndrome:

Name: Autoimmune Lymphoproliferative Syndrome 56 12 24 52 25 58 29 54 6 43 15 39 71
Alps 56 12 24 52 25 58 15
Canale-Smith Syndrome 56 12 52 25 58 73
Autoimmune Lymphoproliferative Syndrome, Type Ia 56 13 71
Autoimmune Lymphoproliferative Syndrome, Type Ib 56 71
Autoimmune Lymphoproliferative Syndrome, Type 1b 29 6
Autoimmune Lymphoproliferative Syndrome, Type 1a 29 6
Autoimmune Lymphoproliferative Syndrome, Type I, Autosomal Dominant 56
Autoimmune Lymphoproliferative Syndrome Type 1, Autosomal Dominant 52
Autoimmune Lymphoproliferative Syndrome Type Ia 73
Autoimmune Lymphoproliferative Syndrome Type Ib 73
Autoimmune Lymphoproliferative Syndrome 1a 73
Autoimmune Lymphoproliferative Syndrome 1b 73
Autoimmune Lymphoproliferative Syndromes 36
Fas Deficiency 52
Alps1a 73
Alps1b 73
Css 73

Characteristics:

Orphanet epidemiological data:

58
autoimmune lymphoproliferative syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: All ages;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
onset in early childhood
recessive inheritance has been reported


HPO:

31
autoimmune lymphoproliferative syndrome:
Inheritance autosomal dominant inheritance


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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Blood diseases Immune diseases Gastrointestinal diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare haematological diseases
Rare immunological diseases


Sources

Summaries for Autoimmune Lymphoproliferative Syndrome

About this section
Genetics Home Reference : 25 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 autoimmune lymphoproliferative syndrome, type iii and caspase 8 deficiency. An important gene associated with Autoimmune Lymphoproliferative Syndrome is FAS (Fas Cell Surface Death Receptor), and among its related pathways/superpathways are Apoptosis and Innate Immune System. The drugs Amlodipine and Sirolimus have been mentioned in the context of this disorder. Affiliated tissues include t cells, lymph node and spleen, and related phenotypes are splenomegaly and chronic noninfectious lymphadenopathy

Disease Ontology : 12 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.

NIH Rare Diseases : 52 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 . Other signs and 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 mutations in the FAS gene in about 75% of 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 mutation 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 mutation . Treatment may include steroids or other medications, blood transfusions, and/or splenectomy depending on the severity of the disorder.

OMIM : 56 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)

KEGG : 36 Autoimmune lymphoproliferative syndrome (ALPS) is an autosomal dominant disorder with clinical features of various autoimmune manifestations that predominantly involve polyclonal accumulation of lymphocytes in the spleen and lymph nodes with lymphadenopathy and/or splenomegaly, and expansion of double-negative (DN) T cells in the peripheral blood. Central to the cellular pathogenesis is defective FAS-induced apoptosis, which in turn leads to dysregulation of lymphocyte homeostasis. ALPS caused by heterozygous mutations in the Fas gene (ALPS Type Ia) make up the majority of identified cases. However, other mutations, namely of the FasL gene (ALPS Type Ib) and the caspase 8 and 10 gene (ALPS Type II) are occasionally detected, whereas some patients do not present any known mutations (ALPS-III). Recently, mutations of the NRAS gene have been suggested to cause ALPS Type IV.

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.

Wikipedia : 74 Autoimmune lymphoproliferative syndrome (ALPS), is a form of lymphoproliferative disorder (LPDs). It... more...

GeneReviews: NBK1108
Sources

Related Diseases for Autoimmune Lymphoproliferative Syndrome

About this section

Diseases in the Lymphoproliferative Syndrome family:

Autoimmune Lymphoproliferative Syndrome Autoimmune Lymphoproliferative Syndrome, Type Iia
Lymphoproliferative Syndrome 1 Lymphoproliferative Syndrome 2
Autoimmune Lymphoproliferative Syndrome, Type Iii Autoimmune Lymphoproliferative Syndrome, Type V
Lymphoproliferative Syndrome 3

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

(show top 50) (show all 273)
# Related Disease Score Top Affiliating Genes
1 autoimmune lymphoproliferative syndrome, type iii 35.6 PRKCD LRBA CASP10
2 caspase 8 deficiency 34.9 FASLG FAS FADD CASP8 CASP10
3 ras-associated autoimmune leukoproliferative disorder 34.9 NRAS HRAS CASP10
4 lymphoproliferative syndrome 32.3 UNC13D RASGRP1 PTPRC PRKCD PRF1 NRAS
5 autoimmune disease 31.9 PRF1 MIR146A IL2RA IL2 IL10 FASLG
6 thrombocytopenia 31.8 PRF1 IL2 IL10 FASLG FAS CTLA4
7 lymphoma 31.7 PTPRC NRAS IL2RA IL2 FAS CASP8
8 immune deficiency disease 31.4 PTPRC IL2RA IL2 IL10 FASLG FAS
9 exanthem 31.4 IL2 IL10 HRAS CTLA4
10 hemophagocytic lymphohistiocytosis 31.3 UNC13D PRF1 IL2RA IL10 CTLA4
11 lymphopenia 31.3 IL2RA IL2 IL10 FASLG FAS CTLA4
12 common variable immunodeficiency 31.3 PRKCD LRBA IL2RA IL2 IL10 FAS
13 lymphoma, non-hodgkin, familial 31.2 PTPRC PRF1 NRAS IL2RA IL2 IL10
14 uveitis 31.1 IL2RA IL2 IL10 CTLA4
15 glioblastoma multiforme 31.1 NRAS IL2 HRAS FAS CASP8 BCL2L11
16 systemic lupus erythematosus 31.0 RASGRP1 PTPRC MIR146A IL2RA IL2 IL10
17 chronic active epstein-barr virus infection 31.0 IL2 IL10 CTLA4
18 lymphadenitis 31.0 IL2RA IL10 FASLG FAS
19 combined t cell and b cell immunodeficiency 31.0 PTPRC IL2 IL10 CTLA4
20 autoimmune hepatitis 31.0 PTPRC IL10 FAS CTLA4
21 t-cell large granular lymphocyte leukemia 30.9 IL2RA IL2 FASLG
22 intermediate uveitis 30.9 IL2RA IL2 IL10
23 juvenile rheumatoid arthritis 30.9 IL2RA IL2 IL10 CTLA4
24 autoimmune pancreatitis 30.9 IL10 HRAS CTLA4
25 pancytopenia 30.9 UNC13D PTPRC PRF1 IL2RA
26 graft-versus-host disease 30.8 IL2 IL10 FASLG FAS
27 alopecia areata 30.7 IL2RA IL2 IL10 FASLG CTLA4
28 autoimmune lymphoproliferative syndrome, type iia 12.9
29 autoimmune lymphoproliferative syndrome, type v 12.9
30 churg-strauss syndrome 12.1
31 coffin-siris syndrome 1 12.0
32 dianzani autoimmune lymphoproliferative disease 11.9
33 superficial siderosis 11.4
34 infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 11.3
35 epstein-barr virus-associated gastric carcinoma 10.8 IL10 FASLG FAS
36 post-transplant lymphoproliferative disease 10.8 IL10 FADD CASP8
37 malignant dermis tumor 10.8 NRAS HRAS CTLA4
38 malignant skin fibrous histiocytoma 10.8 NRAS HRAS CTLA4
39 thyroiditis 10.8 IL2 IL10 FASLG CTLA4
40 pneumoconiosis 10.8 IL10 FASLG FAS CASP8
41 inflammatory bowel disease 18 10.8 IL2 IL10 CTLA4
42 idiopathic neutropenia 10.8 IL2RA IL10 FASLG
43 acute myocarditis 10.8 IL10 FASLG FAS
44 acute graft versus host disease 10.8 IL2RA IL2 IL10 FASLG
45 lupus erythematosus 10.8 RASGRP1 IL10 FASLG CTLA4
46 b-cell expansion with nfkb and t-cell anergy 10.8 IL2RA IL2 FASLG
47 autoimmune disease of eyes, ear, nose and throat 10.8 IL2 IL10 CTLA4
48 melphalan allergy 10.8 NRAS IL2
49 autoimmune disease of endocrine system 10.8 IL2RA IL2 IL10 CTLA4
50 listeriosis 10.8 PTPRC PRF1 IL2 IL10

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



Diseases related to Autoimmune Lymphoproliferative Syndrome
Sources

Symptoms & Phenotypes for Autoimmune Lymphoproliferative Syndrome

About this section

Human phenotypes related to Autoimmune Lymphoproliferative Syndrome:

58 31 (show top 50) (show all 78)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 splenomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001744
2 chronic noninfectious lymphadenopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0002730
3 hepatomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002240
4 hypersplenism 58 31 frequent (33%) Frequent (79-30%) HP:0001971
5 bruising susceptibility 58 31 frequent (33%) Frequent (79-30%) HP:0000978
6 autoimmune thrombocytopenia 58 31 frequent (33%) Frequent (79-30%) HP:0001973
7 autoimmune hemolytic anemia 58 31 frequent (33%) Frequent (79-30%) HP:0001890
8 neutropenia in presence of anti-neutropil antibodies 58 31 frequent (33%) Frequent (79-30%) HP:0001904
9 elevated proportion of cd4-negative, cd8-negative, alpha-beta regulatory t cells 58 31 frequent (33%) Frequent (79-30%) HP:0002851
10 increased b cell count 58 31 frequent (33%) Frequent (79-30%) HP:0005404
11 abnormal serum interleukin level 58 31 frequent (33%) Frequent (79-30%) HP:0030782
12 increased circulating igg level 31 frequent (33%) HP:0003237
13 hepatitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0012115
14 urticaria 58 31 occasional (7.5%) Occasional (29-5%) HP:0001025
15 thyroiditis 58 31 occasional (7.5%) Occasional (29-5%) HP:0100646
16 reticulocytosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001923
17 vasculitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002633
18 decreased proportion of cd4-positive t cells 58 31 occasional (7.5%) Occasional (29-5%) HP:0005407
19 decreased circulating igg level 58 31 occasional (7.5%) Occasional (29-5%) HP:0004315
20 eosinophilia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001880
21 decreased circulating total igm 58 31 occasional (7.5%) Occasional (29-5%) HP:0002850
22 antineutrophil antibody positivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0003453
23 antinuclear antibody positivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0003493
24 glomerulonephritis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000099
25 hodgkin lymphoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0012189
26 abnormal vitamin b12 level 58 31 occasional (7.5%) Occasional (29-5%) HP:0040126
27 t-cell lymphoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0012190
28 b-cell lymphoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0012191
29 antiphospholipid antibody positivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0003613
30 specific anti-polysaccharide antibody deficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0002848
31 rheumatoid factor positive 58 31 occasional (7.5%) Occasional (29-5%) HP:0002923
32 coombs-positive hemolytic anemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0004844
33 burkitt lymphoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0030080
34 abnormal proportion of cd4 t cells 58 31 occasional (7.5%) Occasional (29-5%) HP:0031392
35 abnormal proportion of cd8 t cells 58 31 occasional (7.5%) Occasional (29-5%) HP:0031393
36 increased circulating total ige level 31 occasional (7.5%) HP:0003212
37 increased circulating iga level 31 occasional (7.5%) HP:0003261
38 seizures 58 31 very rare (1%) Very rare (<4-1%) HP:0001250
39 arthritis 58 31 very rare (1%) Very rare (<4-1%) HP:0001369
40 renal insufficiency 58 31 very rare (1%) Very rare (<4-1%) HP:0000083
41 pulmonary fibrosis 58 31 very rare (1%) Very rare (<4-1%) HP:0002206
42 bone marrow hypocellularity 58 31 very rare (1%) Very rare (<4-1%) HP:0005528
43 pulmonary infiltrates 58 31 very rare (1%) Very rare (<4-1%) HP:0002113
44 hydrops fetalis 58 31 very rare (1%) Very rare (<4-1%) HP:0001789
45 premature ovarian insufficiency 58 31 very rare (1%) Very rare (<4-1%) HP:0008209
46 headache 58 31 very rare (1%) Very rare (<4-1%) HP:0002315
47 uveitis 58 31 very rare (1%) Very rare (<4-1%) HP:0000554
48 thyroid adenoma 58 31 very rare (1%) Very rare (<4-1%) HP:0000854
49 basal cell carcinoma 58 31 very rare (1%) Very rare (<4-1%) HP:0002671
50 thyroid carcinoma 58 31 very rare (1%) Very rare (<4-1%) HP:0002890

Symptoms via clinical synopsis from OMIM:

56
Abdomen Spleen:
splenomegaly

Skin Nails Hair Skin:
urticaria
vasculitis rash

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
Neoplasia:
increased risk of malignant lymphoma

Abdomen Liver:
hepatomegaly

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

Laboratory Abnormalities:
rheumatoid factor positive
platelet antibody positive
increased levels of igg
increased levels of iga
increased levels of igm
more

Clinical features from OMIM:

601859

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.84 BCL2L11 CASP8 FADD FAS IL10 IL2
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.84 BCL2L11 CASP8 FADD FAS IL10 IL2
3 Reduced mammosphere formation GR00396-S 9.5 FADD FAS FASLG HRAS IL2RA NRAS

MGI Mouse Phenotypes related to Autoimmune Lymphoproliferative Syndrome:

45 (show all 18)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.45 ACTA2 BCL2L11 CASP8 CTLA4 FADD FAS
2 hematopoietic system MP:0005397 10.43 BCL2L11 CASP8 CTLA4 FADD FAS FASLG
3 endocrine/exocrine gland MP:0005379 10.42 BCL2L11 CASP8 CTLA4 FADD FAS FASLG
4 homeostasis/metabolism MP:0005376 10.41 BCL2L11 CASP8 CTLA4 FADD FAS FASLG
5 immune system MP:0005387 10.4 BCL2L11 CASP8 CTLA4 FADD FAS FASLG
6 growth/size/body region MP:0005378 10.35 BCL2L11 CASP8 FADD FAS HRAS IL10
7 digestive/alimentary MP:0005381 10.34 CTLA4 FADD FAS FASLG HRAS IL10
8 cellular MP:0005384 10.31 BCL2L11 CASP8 FADD FAS FASLG IL10
9 mortality/aging MP:0010768 10.28 BCL2L11 CASP8 CTLA4 FADD FAS FASLG
10 liver/biliary system MP:0005370 10.23 CASP8 CTLA4 FADD FAS FASLG IL10
11 integument MP:0010771 10.18 BCL2L11 CASP8 CTLA4 FAS FASLG HRAS
12 nervous system MP:0003631 10.11 BCL2L11 CASP8 FADD FAS FASLG HRAS
13 neoplasm MP:0002006 10.1 BCL2L11 CASP8 FAS FASLG HRAS IL10
14 normal MP:0002873 9.91 BCL2L11 CTLA4 FAS FASLG HRAS IL10
15 no phenotypic analysis MP:0003012 9.87 BCL2L11 FADD HRAS IL10 IL2 NRAS
16 renal/urinary system MP:0005367 9.76 BCL2L11 CASP8 FAS FASLG HRAS PRKCD
17 respiratory system MP:0005388 9.61 CASP8 CTLA4 FAS FASLG HRAS IL10
18 skeleton MP:0005390 9.36 CTLA4 FADD FAS FASLG HRAS IL10
Sources

Drugs & Therapeutics for Autoimmune Lymphoproliferative Syndrome

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

(show top 50) (show all 73)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Amlodipine Approved Phase 4 88150-42-9 2162
2
Sirolimus Approved, Investigational Phase 4 53123-88-9 5284616 6436030 46835353
3
Everolimus Approved Phase 4 159351-69-6 6442177 70789204
4
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
5
Tacrolimus Approved, Investigational Phase 4 104987-11-3 445643 439492 6473866
6
Calcium Approved, Nutraceutical Phase 4 7440-70-2 271
7 Antihypertensive Agents Phase 4
8 Vasodilator Agents Phase 4
9 Calcium, Dietary Phase 4
10 calcium channel blockers Phase 4
11 Anti-Infective Agents Phase 4
12 Antibiotics, Antitubercular Phase 4
13 Immunologic Factors Phase 4
14 Anti-Bacterial Agents Phase 4
15 Antifungal Agents Phase 4
16 Immunosuppressive Agents Phase 4
17 Calcineurin Inhibitors Phase 4
18
Betamethasone Approved, Vet_approved Phase 3 378-44-9 9782
19 Betamethasone benzoate Phase 3
20 Betamethasone Valerate Phase 3 2152-44-5
21 Betamethasone sodium phosphate Phase 3
22 Betamethasone-17,21-dipropionate Phase 3
23 Hormones Phase 3
24 Anti-Asthmatic Agents Phase 3
25 Respiratory System Agents Phase 3
26 Anti-Inflammatory Agents Phase 3
27 Hormone Antagonists Phase 3
28 glucocorticoids Phase 3
29 Betamethasone acetate Phase 3
30
Valproic acid Approved, Investigational Phase 1, Phase 2 99-66-1 3121
31
Hydroxyurea Approved Phase 2 127-07-1 3657
32
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
33
Melphalan Approved Phase 2 148-82-3 4053 460612
34
alemtuzumab Approved, Investigational Phase 2 216503-57-0
35
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
36 Central Nervous System Depressants Phase 1, Phase 2
37 Neurotransmitter Agents Phase 1, Phase 2
38 Tranquilizing Agents Phase 1, Phase 2
39 GABA Agents Phase 1, Phase 2
40 Anticonvulsants Phase 1, Phase 2
41 Psychotropic Drugs Phase 1, Phase 2
42 Antimanic Agents Phase 1, Phase 2
43 Alkylating Agents Phase 2
44 Antineoplastic Agents, Immunological Phase 2
45 Antimetabolites Phase 2
46
leucovorin Approved Phase 1 58-05-9 6006 143
47
Pyrimethamine Approved, Investigational, Vet_approved Phase 1 58-14-0 4993
48
Sulfadoxine Approved, Investigational Phase 1 2447-57-6 17134
49
Levoleucovorin Approved, Investigational Phase 1 68538-85-2
50
Folic acid Approved, Nutraceutical, Vet_approved Phase 1 59-30-3 6037

Interventional clinical trials:

(show all 31)
# 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 Tacrolimus Treatment for Refractory Pure Red Cell Aplasia, a Prospective Study Recruiting NCT03540472 Phase 4 tacrolimus
3 Sirolimus Treatment for Refractory Pure Red Cell Aplasia, a Prospective Study Recruiting NCT03364764 Phase 4 Sirolimus
4 Antenatal Late Preterm Steroids (ALPS): A Randomized Placebo-Controlled Trial Active, not recruiting NCT01222247 Phase 3 Betamethasone;Placebo
5 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
6 Sirolimus for Patients With Chronic and/or Refractory Autoimmune Cytopenias: A Pilot Series Completed NCT00392951 Phase 1, Phase 2 sirolimus
7 A Phase II Study of Reduced Intensity Conditioning in Pediatric Patients and Young Adults ≤40 Years of Age With Non-Malignant Disorders Undergoing Umbilical Cord Blood, Bone Marrow, or Peripheral Blood Stem Cell Transplantation Recruiting NCT01962415 Phase 2 Hydroxyurea;Alemtuzumab;Fludarabine;Melphalan;Thiotepa
8 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
9 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)
10 Pilot (Phase I-II) Study of Pyrimethamine (Daraprim) for the Treatment of the Autoimmune Lymphoproliferative Syndrome (ALPS) Completed NCT00065390 Phase 1 Pyrimethamine
11 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
12 Early Postnatal Discharge in a French Perinatal Network Unknown status NCT02298569
13 Study of Fluorodeoxyglucose Positron Emission Tomography (FDG-PET) for the Evaluation of the Autoimmune Lymphoproliferative Syndrome (ALPS) and ALPS-Associated Lymphoma Completed NCT00068146
14 Infusing Robot-Assisted Therapy With Motor Learning Principles: An Active Learning Program for Stroke Completed NCT02747433
15 Assessment of Facilitated Tucking During the Procedure of Daily Weight on the Level of Stress in Preterm Infants Completed NCT02944773
16 Altitude-dependent Effects of Concentric and Eccentric Exercise on Glucose Metabolism in Pre-diabetic Men Completed NCT01890876
17 The Effect of Two Different Feeding Positions During Tube Feeding on Stress, Pain Level and Feeding Tolerance of Preterm Infants Completed NCT04156529
18 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
19 A Paradigm Sift: Rehabilitation Robotics, Cognitive Skills Training and Function Recruiting NCT03599544
20 Fetal Metabolic Consequences of Late Preterm Steroid Exposure Recruiting NCT03076775
21 Prosthetic Smart Socket Technology to Improve Patient Interaction, Usability, Comfort, Fit, and Function. Recruiting NCT03199222
22 Clinical Outcomes of the ALPS Proximal Humerus Plating System Recruiting NCT03328650
23 Posttraumatic Stress Disorder and Quality of Life of Avalanche Survivors From 2014 to 2018, Based on the French North Alpine Avalanche Register: Risk Factor Analysis Recruiting NCT03936738
24 Description and Evaluation of Care Practices Amongst Geriatric Oncology Unit in the Alpine Valley, in the Follow-up of Cancer Patients. Recruiting NCT03349229
25 Evaluation of the Implementation of a Clinical Pathway for Improving the Performance of Medical and Surgical Management of Hip Prosthesis Infections Recruiting NCT02660268
26 Baseline Characteristics, Processes of Care, System-related Factors, and Clinical Outcomes Associated With the Quality and Safety of Initial Management for ST-segment Elevation Myocardial Infarction: A Multicenter Cohort Study Recruiting NCT02788344
27 Development of a Risk Prediction Model for Identifying Potentially Avoidable Readmissions of Patients Hospitalized With Community-Acquired Pneumonia Recruiting NCT02833259
28 Comparative Autoantibody and Immunologic Cell Marker Study Enrolling by invitation NCT02422875
29 Feasibility and Clinical Impact Study of Non Pharmacological Interventions Targeting the Subject's Empowerment Among Slackline, Mindfulness, Adapted Physical Activity, Self-hypnosis, Qi Gong Versus Usual Care in Management of Chronic Pain Not yet recruiting NCT04176341
30 Evaluation of Professional Practices on the Management of Cardiogenic Pulmonary Edema (RENAU-OAP) Terminated NCT03148847
31 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

Sources

Genetic Tests for Autoimmune Lymphoproliferative Syndrome

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Genetic tests related to Autoimmune Lymphoproliferative Syndrome:

# Genetic test Affiliating Genes
1 Autoimmune Lymphoproliferative Syndrome 29 FAS FASLG
2 Autoimmune Lymphoproliferative Syndrome, Type 1b 29 FASLG
3 Autoimmune Lymphoproliferative Syndrome, Type 1a 29
Sources

Anatomical Context for Autoimmune Lymphoproliferative Syndrome

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MalaCards organs/tissues related to Autoimmune Lymphoproliferative Syndrome:

40
T Cells, Lymph Node, Spleen, Liver, Skin, Eye, Kidney
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Publications for Autoimmune Lymphoproliferative Syndrome

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Articles related to Autoimmune Lymphoproliferative Syndrome:

(show top 50) (show all 3046)
# Title Authors PMID Year
1
Autoimmune lymphoproliferative syndrome with somatic Fas mutations. 54 61 24 56 6
15459302 2004
2
Fas ligand mutation in a patient with systemic lupus erythematosus and lymphoproliferative disease. 54 61 24 56 6
8787672 1996
3
Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome. 54 61 24 56 6
7540117 1995
4
Autoimmune lymphoproliferative syndrome (ALPS) in a child from consanguineous parents: a dominant or recessive disease? 61 24 56 6
10709732 2000
5
Missense mutations in the Fas gene resulting in autoimmune lymphoproliferative syndrome: a molecular and immunological analysis. 54 61 56 6
9028321 1997
6
Mutations in Fas associated with human lymphoproliferative syndrome and autoimmunity. 24 56 6
7539157 1995
7
Genetic alterations in caspase-10 may be causative or protective in autoimmune lymphoproliferative syndrome. 54 61 24 6
16446975 2006
8
The development of lymphomas in families with autoimmune lymphoproliferative syndrome with germline Fas mutations and defective lymphocyte apoptosis. 54 61 24 56
11418480 2001
9
Lymphoproliferative syndrome with autoimmunity: A possible genetic basis for dominant expression of the clinical manifestations. 54 61 24 6
10515860 1999
10
Inherited human Caspase 10 mutations underlie defective lymphocyte and dendritic cell apoptosis in autoimmune lymphoproliferative syndrome type II. 54 61 24 6
10412980 1999
11
Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance. 54 61 24 6
10090885 1999
12
Defective CD95/APO-1/Fas signal complex formation in the human autoimmune lymphoproliferative syndrome, type Ia. 54 61 24 6
10200300 1999
13
The clinical spectrum in a large kindred with autoimmune lymphoproliferative syndrome caused by a Fas mutation that impairs lymphocyte apoptosis. 54 61 24 6
9821419 1998
14
Loss-of-function of the protein kinase C δ (PKCδ) causes a B-cell lymphoproliferative syndrome in humans. 61 24 6
23430113 2013
15
Onset of autoimmune lymphoproliferative syndrome (ALPS) in humans as a consequence of genetic defect accumulation. 61 24 56
21183795 2011
16
Somatic FAS mutations are common in patients with genetically undefined autoimmune lymphoproliferative syndrome. 61 24 56
20360470 2010
17
Fas gene mutations in the Canale-Smith syndrome, an inherited lymphoproliferative disorder associated with autoimmunity. 56 6
8929361 1996
18
Chronic lymphadenopathy simulating malignant lymphoma. 56 6
4165068 1967
19
B-cell deficiency and severe autoimmunity caused by deficiency of protein kinase C δ. 24 6
23319571 2013
20
Somatic Fas mutations in non-Hodgkin's lymphoma: association with extranodal disease and autoimmunity. 54 61 56
9787134 1998
21
Human autoimmune lymphoproliferative syndrome, a defect in the apoptosis-inducing Fas receptor: a lesson from the mouse model. 54 61 56
9609991 1998
22
Clincal, immunologic, and genetic features of an autoimmune lymphoproliferative syndrome associated with abnormal lymphocyte apoptosis. 54 61 56
9028957 1997
23
A novel lymphoproliferative/autoimmune syndrome resembling murine lpr/gld disease. 24 56
1386609 1992
24
Advances in the management and understanding of autoimmune lymphoproliferative syndrome (ALPS). 61 56
19930184 2010
25
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. 54 61 24
19176318 2009
26
Co-inherited mutations of Fas and caspase-10 in development of the autoimmune lymphoproliferative syndrome. 54 61 24
17999750 2007
27
Dominant inhibition of Fas ligand-mediated apoptosis due to a heterozygous mutation associated with autoimmune lymphoproliferative syndrome (ALPS) Type Ib. 54 61 24
17605793 2007
28
Autoimmune Lymphoproliferative Syndrome 61 6
20301287 2006
29
Identical phenotype in patients with somatic and germline CD95 mutations requires a new diagnostic approach to autoimmune lymphoproliferative syndrome. 54 61 24
16291365 2005
30
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. 54 61 24
15870181 2005
31
Bilateral uveitis in a patient with autoimmune lymphoproliferative syndrome. 61 56
15767081 2005
32
Development of lymphoma in Autoimmune Lymphoproliferative Syndrome (ALPS) and its relationship to Fas gene mutations. 54 61 24
15160902 2004
33
Pleiotropic defects in lymphocyte activation caused by caspase-8 mutations lead to human immunodeficiency. 54 61 24
12353035 2002
34
Caspase-10 is an initiator caspase in death receptor signaling. 54 61 24
11717445 2001
35
Description of serologic features in autoimmune lymphoproliferative syndrome. 54 61 24
10960521 2000
36
Pathological findings in human autoimmune lymphoproliferative syndrome. 54 61 24
9811346 1998
37
Analysis of protein-coding genetic variation in 60,706 humans. 6
27535533 2016
38
Sirolimus is effective in relapsed/refractory autoimmune cytopenias: results of a prospective multi-institutional trial. 61 24
26504182 2016
39
Autoimmune lymphoproliferative syndrome caused by a homozygous FasL mutation that disrupts FasL assembly. 61 24
26456038 2016
40
Decreased activation-induced cell death by EBV-transformed B-cells from a patient with autoimmune lymphoproliferative syndrome caused by a novel FASLG mutation. 61 24
26334989 2015
41
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. 61 24
25451160 2014
42
Defective anti-polysaccharide response and splenic marginal zone disorganization in ALPS patients. 61 24
24970930 2014
43
Autoimmune lymphoproliferative syndrome: an update and review of the literature. 61 24
25086580 2014
44
Natural history of autoimmune lymphoproliferative syndrome associated with FAS gene mutations. 61 24
24398331 2014
45
IL-17 protects T cells from apoptosis and contributes to development of ALPS-like phenotypes. 61 24
24363402 2014
46
The expanding spectrum of the autoimmune lymphoproliferative syndromes. 61 24
24240292 2013
47
Sequential decisions on FAS sequencing guided by biomarkers in patients with lymphoproliferation and autoimmune cytopenia. 61 24
23850805 2013
48
Investigation of common variable immunodeficiency patients and healthy individuals using autoimmune lymphoproliferative syndrome biomarkers. 61 24
23993982 2013
49
Protein kinase cδ deficiency causes mendelian systemic lupus erythematosus with B cell-defective apoptosis and hyperproliferation. 6
23666743 2013
50
Somatic loss of heterozygosity, but not haploinsufficiency alone, leads to full-blown autoimmune lymphoproliferative syndrome in 1 of 12 family members with FAS start codon mutation. 61 24
23524443 2013
Sources

Variations for Autoimmune Lymphoproliferative Syndrome

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ClinVar genetic disease variations for Autoimmune Lymphoproliferative Syndrome:

6 (show top 50) (show all 218) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FAS NM_000043.6(FAS):c.232del (p.Asp78fs)deletion Pathogenic 16497 rs606231361 10:90767489-90767489 10:89007732-89007732
2 FAS NM_000043.6(FAS):c.334+2dupduplication Pathogenic 16498 rs606231362 10:90767595-90767596 10:89007838-89007839
3 FASLG NM_000639.3(FASLG):c.473_556del (p.Met158_Glu185del)deletion Pathogenic 16495 rs80358236 1:172634782-172634865 1:172665642-172665725
4 FAS NM_000043.6(FAS):c.721A>C (p.Thr241Pro)SNV Pathogenic 16499 rs121913076 10:90773920-90773920 10:89014163-89014163
5 FAS NM_000043.6(FAS):c.569-2A>CSNV Pathogenic 16500 rs606231363 10:90771754-90771754 10:89011997-89011997
6 FAS NM_000043.6(FAS):c.817C>T (p.Gln273Ter)SNV Pathogenic 16501 rs121913077 10:90774016-90774016 10:89014259-89014259
7 FAS NM_000043.6(FAS):c.361C>T (p.Arg121Trp)SNV Pathogenic 16502 rs121913078 10:90768672-90768672 10:89008915-89008915
8 FAS NM_000043.6(FAS):c.809C>T (p.Thr270Ile)SNV Pathogenic 16506 rs121913081 10:90774008-90774008 10:89014251-89014251
9 FAS NM_000043.6(FAS):c.651+2T>ASNV Pathogenic 16507 rs267607122 10:90771840-90771840 10:89012083-89012083
10 FAS NM_000043.6(FAS):c.73G>A (p.Ala25Thr)SNV Pathogenic 16508 rs606231364 10:90762828-90762828 10:89003071-89003071
11 FAS NM_000043.6(FAS):c.968_987dup (p.Glu330fs)duplication Pathogenic 16509 rs606231365 10:90774166-90774167 10:89014409-89014410
12 FAS NM_000043.6(FAS):c.740G>C (p.Gly247Ala)SNV Pathogenic 16513 rs121913085 10:90773939-90773939 10:89014182-89014182
13 FAS NM_000043.6(FAS):c.651+2T>CSNV Pathogenic 16514 rs267607122 10:90771840-90771840 10:89012083-89012083
14 FAS NM_000043.6(FAS):c.692_693insT (p.Lys231fs)insertion Pathogenic 16515 rs606231366 10:90773891-90773892 10:89014134-89014135
15 FAS NM_000043.6(FAS):c.778G>T (p.Asp260Tyr)SNV Pathogenic 16516 rs121913086 10:90773977-90773977 10:89014220-89014220
16 FASLG NM_000639.3(FASLG):c.263del (p.Phe88fs)deletion Pathogenic 156103 rs587776450 1:172628600-172628600 1:172659460-172659460
17 FAS NM_000043.6(FAS):c.779A>T (p.Asp260Val)SNV Pathogenic 16504 rs28929498 10:90773978-90773978 10:89014221-89014221
18 FAS NM_000043.6(FAS):c.755del (p.Asn252fs)deletion Pathogenic 578533 rs1564699214 10:90773953-90773953 10:89014196-89014196
19 FAS NM_000043.6(FAS):c.110T>A (p.Leu37Ter)SNV Pathogenic 580709 rs1564686301 10:90762865-90762865 10:89003108-89003108
20 FAS NM_000043.6(FAS):c.651+1G>TSNV Pathogenic 650729 10:90771839-90771839 10:89012082-89012082
21 FAS NM_000043.6(FAS):c.652-1G>ASNV Pathogenic 664079 10:90773099-90773099 10:89013342-89013342
22 FAS NM_000043.6(FAS):c.676+1G>ASNV Pathogenic 645697 10:90773125-90773125 10:89013368-89013368
23 FAS NM_000043.6(FAS):c.657_658del (p.Val220fs)deletion Pathogenic 692047 10:90773105-90773106 10:89013348-89013349
24 FAS NM_000043.6(FAS):c.178del (p.His60fs)deletion Pathogenic 802617 10:90762932-90762932 10:89003175-89003175
25 FAS NM_000043.6(FAS):c.415del (p.Val139fs)deletion Pathogenic 802618 10:90768726-90768726 10:89008969-89008969
26 FAS NM_000043.6(FAS):c.651+2_651+3insTGAAATinsertion Pathogenic 802619 10:90771839-90771840 10:89012082-89012083
27 FAS NM_000043.6(FAS):c.748C>T (p.Arg250Ter)SNV Pathogenic 802620 10:90773947-90773947 10:89014190-89014190
28 FAS NM_000043.6(FAS):c.651+1G>ASNV Pathogenic/Likely pathogenic 573761 rs1564696849 10:90771839-90771839 10:89012082-89012082
29 FAS NM_000043.6(FAS):c.197-2A>GSNV Likely pathogenic 598753 rs1564691414 10:90767455-90767455 10:89007698-89007698
30 FAS NM_000043.6(FAS):c.749G>C (p.Arg250Pro)SNV Likely pathogenic 16505 rs121913080 10:90773948-90773948 10:89014191-89014191
31 FAS NM_000043.6(FAS):c.580G>A (p.Glu194Lys)SNV Conflicting interpretations of pathogenicity 134374 rs56006128 10:90771767-90771767 10:89012010-89012010
32 FASLG NM_000639.3(FASLG):c.451+7A>GSNV Conflicting interpretations of pathogenicity 293738 rs201525996 1:172633537-172633537 1:172664397-172664397
33 FASLG NM_000639.3(FASLG):c.364C>A (p.His122Asn)SNV Conflicting interpretations of pathogenicity 293736 rs140406512 1:172629250-172629250 1:172660110-172660110
34 CASP10 NM_032977.3(CASP10):c.1466G>A (p.Arg489Gln)SNV Conflicting interpretations of pathogenicity 333440 rs535121774 2:202082361-202082361 2:201217638-201217638
35 CASP10 NM_032977.3(CASP10):c.1502C>T (p.Pro501Leu)SNV Conflicting interpretations of pathogenicity 333441 rs148939095 2:202082397-202082397 2:201217674-201217674
36 CASP10 NM_032977.3(CASP10):c.1321G>A (p.Ala441Thr)SNV Conflicting interpretations of pathogenicity 643723 2:202074191-202074191 2:201209468-201209468
37 FAS NM_000043.6(FAS):c.578A>G (p.Lys193Arg)SNV Conflicting interpretations of pathogenicity 522316 rs150489856 10:90771765-90771765 10:89012008-89012008
38 CASP10 NM_032976.3(CASP10):c.*288_*294deldeletion Conflicting interpretations of pathogenicity 535760 rs747900630 2:202074072-202074078 2:201209349-201209355
39 FAS NM_000043.6(FAS):c.658G>A (p.Val220Met)SNV Uncertain significance 532229 rs755437276 10:90773106-90773106 10:89013349-89013349
40 FASLG NM_000639.3(FASLG):c.109C>G (p.Pro37Ala)SNV Uncertain significance 532227 rs145731782 1:172628450-172628450 1:172659310-172659310
41 FASLG NM_000639.3(FASLG):c.147_152GCCACC[3] (p.Pro52_Pro53dup)short repeat Uncertain significance 532228 rs749237778 1:172628482-172628483 1:172659342-172659343
42 FASLG NM_000639.3(FASLG):c.144_152del (p.Pro51_Pro53del)deletion Uncertain significance 532231 rs777390517 1:172628480-172628488 1:172659340-172659348
43 FAS NM_000043.6(FAS):c.*84G>ASNV Uncertain significance 301532 rs754986111 10:90774291-90774291 10:89014534-89014534
44 FAS NM_000043.6(FAS):c.*566C>GSNV Uncertain significance 301538 rs886047463 10:90774773-90774773 10:89015016-89015016
45 FASLG NM_000639.3(FASLG):c.749A>G (p.Asn250Ser)SNV Uncertain significance 463410 rs376317481 1:172635059-172635059 1:172665919-172665919
46 CASP10 NM_032977.3(CASP10):c.*1257G>ASNV Uncertain significance 333460 rs886055414 2:202083721-202083721 2:201218998-201218998
47 CASP10 NM_032977.3(CASP10):c.*1366T>CSNV Uncertain significance 333461 rs886055415 2:202083830-202083830 2:201219107-201219107
48 FAS NM_000043.6(FAS):c.*1294A>TSNV Uncertain significance 301545 rs9658778 10:90775501-90775501 10:89015744-89015744
49 ACTA2 , FAS NM_001141945.2(ACTA2):c.-24+399C>TSNV Uncertain significance 301516 rs886047456 10:90750297-90750297 10:88990540-88990540
50 ACTA2 , FAS NM_001141945.2(ACTA2):c.-24+236C>TSNV Uncertain significance 301518 rs886047457 10:90750460-90750460 10:88990703-88990703

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

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Expression for Autoimmune Lymphoproliferative Syndrome

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

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Pathways related to Autoimmune Lymphoproliferative Syndrome according to KEGG:

36
# Name Kegg Source Accession
1 Apoptosis hsa04210

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

(show top 50) (show all 76)
# Super pathways Score Top Affiliating Genes
1
Innate Immune System 65
Show member pathways
 14.06 UNC13D RASGRP1 PTPRC PRKCD NRAS IL2RA
2
Apoptotic Pathways in Synovial Fibroblasts 63
Show member pathways
 13.87 PRKCD NRAS IL2RA IL2 HRAS FASLG
3
ERK Signaling 63
Show member pathways
 13.77 RASGRP1 PRKCD NRAS IL2RA IL2 IL10
4
PEDF Induced Signaling 63
Show member pathways
 13.73 PRKCD NRAS IL2RA IL2 IL10 HRAS
5
Akt Signaling 63
Show member pathways
 13.44 PRKCD NRAS IL2RA IL2 IL10 HRAS
6
Cytokine Signaling in Immune system 65
Show member pathways
 13.42 RASGRP1 PRKCD NRAS IL2RA IL2 IL10
7
Toll-like Receptor Signaling Pathway 1 36
Show member pathways
 13.17 NRAS IL2 IL10 HRAS FASLG FAS
8
Phospholipase-C Pathway 63
Show member pathways
 13.11 PRKCD NRAS IL2RA IL2 HRAS ACTA2
9
PI3K-Akt signaling pathway 36
Show member pathways
 13.01 NRAS IL2RA IL2 HRAS FASLG FAS
10
PAK Pathway 63
Show member pathways
 13 PTPRC PRKCD NRAS IL2RA IL2 IL10
11
Human cytomegalovirus infection 36
Show member pathways
 12.99 NRAS HRAS FASLG FAS FADD CASP8
12
TCR Signaling (Qiagen) 63
Show member pathways
 12.98 RASGRP1 PTPRC PRKCD NRAS HRAS CTLA4
13
TNFR1 Pathway 63
Show member pathways
 12.96 PTPRC PRKCD NRAS HRAS FASLG FAS
14
Measles 36
Show member pathways
 12.88 IL2RA IL2 FASLG FAS FADD CASP8
15
Allograft rejection 1 36
Show member pathways
 12.83 PRF1 IL2RA IL2 IL10 FASLG FAS
16
MAPK signaling pathway 36 1
12.82 RASGRP1 PRKCD NRAS HRAS FASLG FAS
17
Chks in Checkpoint Regulation 63
Show member pathways
 12.77 FASLG FAS FADD CASP8 CASP10 BCL2L11
18
Development HGF signaling pathway 22
Show member pathways
 12.76 PRKCD NRAS HRAS FASLG FAS
19
Apoptosis Modulation and Signaling 1
Show member pathways
 12.76 PRF1 NRAS HRAS FASLG FAS FADD
20
4-1BB Pathway 63
Show member pathways
 12.72 PRKCD NRAS HRAS FASLG FAS
21
Immune response NFAT in immune response 22
Show member pathways
 12.71 RASGRP1 PTPRC IL2RA IL2 IL10 HRAS
22
TRAF Pathway 63
Show member pathways
 12.64 PRKCD HRAS FASLG FAS FADD CASP8
23
NF-kappaB Signaling 4
12.62 PTPRC IL2RA IL2 IL10 FASLG FAS
24
Immune response Role of DAP12 receptors in NK cells 22
Show member pathways
 12.59 PRF1 NRAS IL2 HRAS FASLG FAS
25
Development ERBB-family signaling 22
Show member pathways
 12.58 PRKCD NRAS HRAS CASP8 CASP10
26
DREAM Repression and Dynorphin Expression 63
Show member pathways
 12.51 PRF1 NRAS HRAS FASLG FAS FADD
27
Apoptosis Pathway 70
Show member pathways
 12.48 PRKCD NRAS IL2RA IL2 HRAS CASP8
28
CLEC7A (Dectin-1) signaling 65
Show member pathways
 12.46 PRKCD NRAS HRAS CASP8
29
ICos-ICosL Pathway in T-Helper Cell 63
Show member pathways
 12.45 PTPRC PRKCD IL2RA IL2 CTLA4 ACTA2
30
B cell receptor signaling pathway (KEGG) 1
Show member pathways
 12.44 PTPRC PRKCD NRAS HRAS
31
RhoGDI Pathway 63
Show member pathways
 12.43 PRF1 HRAS CASP10 ACTA2
32
TNF signaling (REACTOME) 65
Show member pathways
 12.41 FASLG FAS FADD CASP8 CASP10
33
JAK-STAT signaling pathway (KEGG) 36
Show member pathways
 12.39 IL2RA IL2 IL10 HRAS
34
Human T-cell leukemia virus 1 infection 36
12.38 NRAS IL2RA IL2 HRAS
35
B Cell Receptor Signaling Pathway (sino) 66
Show member pathways
 12.37 PTPRC PRKCD NRAS HRAS
36
Dimerization of procaspase-8 65
Show member pathways
 12.37 FASLG FAS FADD CASP8 CASP10
37
Proteoglycans in cancer 36
12.35 NRAS HRAS FASLG FAS
38
Pathogenic Escherichia coli infection 36
12.34 FASLG FAS FADD CASP8
39
Apoptosis and Autophagy 4
12.32 FASLG FAS FADD CASP8 BCL2L11
40
p53 Signaling 63
Show member pathways
 12.31 FASLG FAS CASP8 CASP10
41
MAPK Signaling: Mitogen Stimulation Pathway 64
Show member pathways
 12.29 RASGRP1 NRAS IL2RA HRAS BCL2L11
42
Tuberculosis 36
12.28 IL10 FADD CASP8 CASP10
43
Apoptosis and survival Caspase cascade 22
Show member pathways
 12.27 PRF1 FASLG FAS FADD CASP8 CASP10
44
Necroptosis 36
Show member pathways
 12.26 FASLG FAS FADD CASP8
45
C-type lectin receptor signaling pathway 36
Show member pathways
 12.26 PRKCD NRAS IL2 IL10 HRAS CASP8
46
FoxO signaling pathway 36
Show member pathways
 12.16 NRAS IL10 HRAS FASLG BCL2L11
47
T cell receptor signaling pathway 36
Show member pathways
 12.15 RASGRP1 PTPRC PRKCD NRAS IL2 IL10
48
UVA-Induced MAPK Signaling 63
Show member pathways
 12.11 PRKCD NRAS HRAS CASP8
49
Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers 64
12.06 PTPRC IL2RA IL2 IL10
50
DNA Damage Response (only ATM dependent) 1
12.06 NRAS HRAS FASLG BCL2L11
Sources

GO Terms for Autoimmune Lymphoproliferative Syndrome

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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 9.65 PTPRC FASLG FAS FADD CASP8
2 cell body GO:0044297 9.5 FADD CASP8 ACTA2
3 death-inducing signaling complex GO:0031264 9.33 FAS FADD CASP8
4 ripoptosome GO:0097342 9.13 FADD CASP8 CASP10
5 CD95 death-inducing signaling complex GO:0031265 8.92 FAS FADD CASP8 CASP10

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

(show all 37)
# Name GO ID Score Top Affiliating Genes
1 immune response GO:0006955 10.03 IL2RA IL2 IL10 FASLG FAS CTLA4
2 regulation of apoptotic process GO:0042981 9.97 FAS FADD CASP8 CASP10 BCL2L11
3 positive regulation of apoptotic process GO:0043065 9.97 MIR146A FASLG FAS FADD CTLA4 BCL2L11
4 defense response to virus GO:0051607 9.95 UNC13D PTPRC PRF1 FADD
5 positive regulation of protein phosphorylation GO:0001934 9.94 RASGRP1 IL2 HRAS FAS
6 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.93 FASLG FADD CASP8 CASP10
7 MAPK cascade GO:0000165 9.93 RASGRP1 NRAS IL2RA IL2 HRAS
8 cell surface receptor signaling pathway GO:0007166 9.88 PTPRC IL2RA HRAS FADD CASP8 CASP10
9 cellular response to mechanical stimulus GO:0071260 9.84 FAS FADD CASP8
10 Ras protein signal transduction GO:0007265 9.83 RASGRP1 NRAS HRAS
11 negative regulation of inflammatory response GO:0050728 9.83 PRKCD MIR146A IL2RA IL2 IL10
12 positive regulation of T cell proliferation GO:0042102 9.82 PTPRC IL2RA IL2
13 positive regulation of tumor necrosis factor production GO:0032760 9.8 RASGRP1 PTPRC FADD
14 negative regulation of T cell proliferation GO:0042130 9.79 IL2RA IL10 CTLA4
15 positive regulation of interferon-gamma production GO:0032729 9.78 IL2 HRAS FADD
16 B cell proliferation GO:0042100 9.77 PTPRC PRKCD IL10
17 extrinsic apoptotic signaling pathway via death domain receptors GO:0008625 9.77 FASLG FADD CASP8
18 extrinsic apoptotic signaling pathway GO:0097191 9.76 FASLG FAS FADD CASP8
19 extrinsic apoptotic signaling pathway in absence of ligand GO:0097192 9.75 IL2 FADD BCL2L11
20 T cell homeostasis GO:0043029 9.72 IL2RA FADD BCL2L11
21 positive regulation of activated T cell proliferation GO:0042104 9.7 IL2RA IL2 FADD
22 positive regulation of T cell differentiation GO:0045582 9.69 PTPRC IL2RA IL2
23 toll-like receptor 3 signaling pathway GO:0034138 9.67 FADD CASP8
24 interleukin-2-mediated signaling pathway GO:0038110 9.67 IL2RA IL2
25 negative regulation of extrinsic apoptotic signaling pathway via death domain receptors GO:1902042 9.67 FASLG FAS FADD CASP8
26 positive regulation of isotype switching to IgG isotypes GO:0048304 9.66 PTPRC IL2
27 death-inducing signaling complex assembly GO:0071550 9.65 FADD CASP8
28 regulation of regulatory T cell differentiation GO:0045589 9.65 IL2RA IL2 CTLA4
29 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.65 FASLG FAS FADD CASP8 CASP10
30 regulation of necroptotic process GO:0060544 9.64 FADD CASP8
31 negative regulation of lymphocyte proliferation GO:0050672 9.63 IL2RA IL2
32 TRAIL-activated apoptotic signaling pathway GO:0036462 9.62 FADD CASP8
33 regulation of T cell homeostatic proliferation GO:0046013 9.58 IL2RA IL2
34 apoptotic signaling pathway GO:0097190 9.55 FASLG FAS FADD CASP8 CASP10
35 necroptotic signaling pathway GO:0097527 9.5 FASLG FAS FADD
36 apoptotic process GO:0006915 9.32 PRKCD PRF1 IL2RA HRAS FASLG FAS
37 regulation of extrinsic apoptotic signaling pathway via death domain receptors GO:1902041 9.26 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 tumor necrosis factor receptor binding GO:0005164 9.33 FASLG FADD CASP8
2 cysteine-type endopeptidase activity involved in apoptotic signaling pathway GO:0097199 9.26 CASP8 CASP10
3 death receptor binding GO:0005123 9.13 FASLG FADD CASP8
4 death effector domain binding GO:0035877 8.8 FADD CASP8 CASP10
Sources

Sources for Autoimmune Lymphoproliferative Syndrome

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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