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ALPS
MCID: ATM006
MIFTS: 75

Autoimmune Lymphoproliferative Syndrome (ALPS)

Categories: Blood diseases, Cancer diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Autoimmune Lymphoproliferative Syndrome

About this section

MalaCards integrated aliases for Autoimmune Lymphoproliferative Syndrome:

Name: Autoimmune Lymphoproliferative Syndrome 57 12 25 20 43 58 29 54 6 44 15 39 71
Alps 57 12 25 20 43 58 15
Canale-Smith Syndrome 57 12 20 43 58 73
Autoimmune Lymphoproliferative Syndrome, Type Ia 57 13 71
Autoimmune Lymphoproliferative Syndrome, Type Ib 57 71
Autoimmune Lymphoproliferative Syndrome, Type 1b 29 6
Autoimmune Lymphoproliferative Syndrome, Type 1a 29 6
Autoimmune Lymphoproliferative Syndrome, Type I, Autosomal Dominant 57
Autoimmune Lymphoproliferative Syndrome Type 1, Autosomal Dominant 20
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 20
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®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset in early childhood
recessive inheritance has been reported


HPO:

31
autoimmune lymphoproliferative syndrome:
Inheritance autosomal dominant inheritance


GeneReviews:

25
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 Cancer 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
MedlinePlus Genetics : 43 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 Lactulose have been mentioned in the context of this disorder. Affiliated tissues include liver, spleen and t cells, 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.

GARD : 20 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® : 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 05-Mar-2021)

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 274)
# Related Disease Score Top Affiliating Genes
1 autoimmune lymphoproliferative syndrome, type iii 33.7 PRKCD LRBA CASP10
2 caspase 8 deficiency 33.7 FASLG FAS FADD CASP8 CASP10
3 lymphoproliferative syndrome 32.3 UNC13D RASGRP1 PTPRC PRKCD PRF1 NRAS
4 autoimmune disease 31.6 PRF1 MIR146A IL2RA IL2 IL10 FASLG
5 thrombocytopenia 31.6 PRF1 IL2 IL10 FASLG FAS CTLA4
6 immune deficiency disease 31.2 PTPRC MIR146A IL2RA IL2 IL10 FASLG
7 evans' syndrome 31.2 LRBA IL10 CTLA4
8 hemophagocytic lymphohistiocytosis 31.2 UNC13D PRF1 IL2RA IL10 FAS CTLA4
9 exanthem 31.1 IL2 IL10 CTLA4
10 lupus erythematosus 31.1 RASGRP1 IL10 FASLG CTLA4
11 lymphopenia 31.1 IL2RA IL2 IL10 FASLG FAS CTLA4
12 lymphoma, non-hodgkin, familial 31.0 PTPRC PRF1 NRAS IL2RA IL2 FAS-AS1
13 common variable immunodeficiency 31.0 PRKCD LRBA IL2RA IL2 IL10 FAS
14 uveitis 30.9 IL2RA IL2 IL10 CTLA4
15 systemic lupus erythematosus 30.8 RASGRP1 PTPRC MIR146A IL2RA IL2 IL10
16 chronic active epstein-barr virus infection 30.7 IL2 IL10 CTLA4
17 lymphadenitis 30.7 IL2RA IL10 FASLG FAS
18 chickenpox 30.7 PRF1 IL2 IL10 CTLA4
19 autoimmune hepatitis 30.7 PTPRC IL10 FAS CTLA4
20 t-cell large granular lymphocyte leukemia 30.7 IL2RA IL2 FASLG
21 juvenile rheumatoid arthritis 30.7 IL2RA IL2 IL10 CTLA4
22 intermediate uveitis 30.7 IL2RA IL2 IL10
23 panniculitis 30.7 IL2RA FASLG FAS
24 combined immunodeficiency 30.6 RASGRP1 PTPRC LRBA IL2RA IL2 IL10
25 leukemia, acute lymphoblastic 30.3 PTPRC IL2 FADD CTLA4 CASP8
26 autoimmune lymphoproliferative syndrome, type v 11.9
27 autoimmune lymphoproliferative syndrome, type iia 11.9
28 ras-associated autoimmune leukoproliferative disorder 11.8
29 dianzani autoimmune lymphoproliferative disease 11.5
30 coffin-siris syndrome 1 11.4
31 churg-strauss syndrome 11.3
32 infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 11.1
33 superficial siderosis 11.1
34 splenomegaly 10.8
35 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.7
36 post-transplant lymphoproliferative disease 10.6 IL10 FADD CASP8
37 epstein-barr virus-associated gastric carcinoma 10.6 IL10 FASLG FAS
38 severe cutaneous adverse reaction 10.6 PRF1 FASLG FAS CTLA4
39 pneumoconiosis 10.6 IL10 FASLG FAS CASP8
40 thyroiditis 10.6 IL2 IL10 FASLG CTLA4
41 esophageal tuberculosis 10.6 LRBA IL2RA CTLA4
42 graft-versus-host disease 10.6 IL2 IL10 FASLG FAS
43 idiopathic neutropenia 10.6 IL2RA IL10 FASLG
44 acute graft versus host disease 10.6 IL2RA IL2 IL10 FASLG
45 immunodeficiency 41 with lymphoproliferation and autoimmunity 10.6 IL2RA IL2 CTLA4
46 filarial elephantiasis 10.6 IL2 IL10 CTLA4
47 acute myocarditis 10.6 IL10 FASLG FAS
48 uveal disease 10.6 NRAS IL2 IL10 CTLA4
49 central nervous system vasculitis 10.6 IL2 IL10 CTLA4
50 sjogren syndrome 10.6 IL2RA IL10 FASLG FAS

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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
autoimmune hemolytic anemia
autoimmune thrombocytopenia
iron deficiency anemia
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 05-Mar-2021)

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-1 9.73 CASP8 IL2
2 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-2 9.73 BCL2L11 CASP8 FADD FAS FASLG IL10
3 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.73 CASP8
4 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.47 BCL2L11 FADD FAS IL10 IL2RA RASGRP1
5 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.47 BCL2L11 FADD FAS IL10 IL2 IL2RA
6 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 9.47 CASP8

MGI Mouse Phenotypes related to Autoimmune Lymphoproliferative Syndrome:

46 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.36 ACTA2 BCL2L11 CASP8 CTLA4 FADD FAS
2 hematopoietic system MP:0005397 10.34 BCL2L11 CASP8 CTLA4 FADD FAS FASLG
3 endocrine/exocrine gland MP:0005379 10.3 BCL2L11 CASP8 CTLA4 FADD FAS FASLG
4 homeostasis/metabolism MP:0005376 10.28 BCL2L11 CASP8 CTLA4 FADD FAS FASLG
5 immune system MP:0005387 10.27 BCL2L11 CASP8 CTLA4 FADD FAS FASLG
6 cellular MP:0005384 10.24 BCL2L11 CASP8 FADD FAS FASLG IL10
7 digestive/alimentary MP:0005381 10.22 CTLA4 FADD FAS FASLG IL10 IL2
8 liver/biliary system MP:0005370 10.03 CASP8 CTLA4 FADD FAS FASLG IL10
9 integument MP:0010771 9.97 BCL2L11 CASP8 CTLA4 FAS FASLG IL10
10 neoplasm MP:0002006 9.81 BCL2L11 CASP8 FAS FASLG IL10 IL2
11 respiratory system MP:0005388 9.56 CASP8 CTLA4 FAS FASLG IL10 IL2
12 skeleton MP:0005390 9.32 CTLA4 FADD FAS FASLG IL10 IL2RA
Sources

Drugs & Therapeutics for Autoimmune Lymphoproliferative Syndrome

About this section

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

(show top 50) (show all 93)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Amlodipine Approved Phase 4 88150-42-9 2162
2
Lactulose Approved Phase 4 4618-18-2 11333
3
Mannitol Approved, Investigational Phase 4 69-65-8 453 6251
4
carbamide peroxide Approved Phase 4 124-43-6
5
Aspartic acid Approved, Nutraceutical Phase 4 56-84-8 5960
6 Antihypertensive Agents Phase 4
7 Hormones Phase 4
8 Calcium, Dietary Phase 4
9 Vasodilator Agents Phase 4
10 calcium channel blockers Phase 4
11 Hormone Antagonists Phase 4
12 N-Methylaspartate Phase 4
13
Calcium Nutraceutical Phase 4 7440-70-2 271
14
L-Alanine Nutraceutical Phase 4 56-41-7 5950
15
Betamethasone Approved, Vet_approved Phase 3 378-44-9 9782
16 Respiratory System Agents Phase 3
17 Anti-Asthmatic Agents Phase 3
18 Anti-Inflammatory Agents Phase 3
19 glucocorticoids Phase 3
20 Betamethasone sodium phosphate Phase 3
21 Betamethasone-17,21-dipropionate Phase 3
22 Betamethasone benzoate Phase 3
23 Betamethasone Valerate Phase 3 2152-44-5
24 Betamethasone acetate Phase 3
25
Valproic acid Approved, Investigational Phase 1, Phase 2 99-66-1 3121
26
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 5284616 6436030
27
Clotrimazole Approved, Vet_approved Phase 1, Phase 2 23593-75-1 2812
28
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
29
Melphalan Approved Phase 2 148-82-3 4053 460612
30
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
31
alemtuzumab Approved, Investigational Phase 2 216503-57-0
32
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
33 Anticonvulsants Phase 1, Phase 2
34 Neurotransmitter Agents Phase 1, Phase 2
35 Psychotropic Drugs Phase 1, Phase 2
36 Anti-Infective Agents Phase 1, Phase 2
37 Antifungal Agents Phase 1, Phase 2
38 Antibiotics, Antitubercular Phase 1, Phase 2
39 Anti-Bacterial Agents Phase 1, Phase 2
40 Immunosuppressive Agents Phase 2
41 Antineoplastic Agents, Immunological Phase 2
42 Immunologic Factors Phase 2
43 Alkylating Agents Phase 2
44
Levoleucovorin Approved, Investigational Phase 1 68538-85-2 149436
45
Sulfadoxine Approved, Investigational Phase 1 2447-57-6 17134
46
Pyrimethamine Approved, Investigational, Vet_approved Phase 1 58-14-0 4993
47
leucovorin Approved Phase 1 58-05-9 6006
48
Folic acid Approved, Nutraceutical, Vet_approved Phase 1 59-30-3 6037
49 Vitamin B Complex Phase 1
50 Folic Acid Antagonists Phase 1

Interventional clinical trials:

(show top 50) (show all 54)
# 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 Influence of Recombinant Human Growth Hormone on Intestinal Permeability and Liver Injury in Intestinal Failure Patients Receiving Parenteral Nutrition (Serono Project) Completed NCT01380366 Phase 4 Somatropin
3 Antenatal Late Preterm Steroids (ALPS): A Randomized Placebo-Controlled Trial Active, not recruiting NCT01222247 Phase 3 Betamethasone;Placebo
4 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
5 Sirolimus for Patients With Chronic and/or Refractory Autoimmune Cytopenias: A Pilot Series Completed NCT00392951 Phase 1, Phase 2 sirolimus
6 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
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 Pilot (Phase I-II) Study of Pyrimethamine (Daraprim) for the Treatment of the Autoimmune Lymphoproliferative Syndrome (ALPS) Completed NCT00065390 Phase 1 Pyrimethamine
9 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
10 Assessment of Severity and Outcome of Addicted Cases Admitted to Neurology and Psychiatry Hospital in Assiut University. Unknown status NCT03206411
11 Streptococcus Pneumoniae Nasopharyngeal Carriage Among Children Attending Day-care Centres in the Alpes Maritimes. Substudy: Enterobacterial Intestinal Carriage and Susceptibility to 3rd Generation Cephalosporins Unknown status NCT01485029
12 Study of the Impact of Two Health Prevention Strategies on Students in the Auvergne-Rhône Alpes Region (I2S-Health Prevention) Unknown status NCT03759626
13 Vaccines Immunogenicity in Children Transplanted or Candidate for a Renal, Hepatic, Cardiac or Pulmonary Transplantation, Followed in the Rhône-Alpes Region. A Descriptive and Prospective Monocentric Cohort Study Unknown status NCT03180359
14 Study of Fluorodeoxyglucose Positron Emission Tomography (FDG-PET) for the Evaluation of the Autoimmune Lymphoproliferative Syndrome (ALPS) and ALPS-Associated Lymphoma Completed NCT00068146
15 Infusing Robot-Assisted Therapy With Motor Learning Principles: An Active Learning Program for Stroke Completed NCT02747433
16 Correlation Between the Incidence of COVID-19 in Nursing-homes and the Profile of Nursing Homes in the French Alps Completed NCT04695457
17 Cognitive Function of Alcoholic Liver Disease Patients Completed NCT04557774
18 A Randomized Controlled Trial Comparing Central Laboratory and Point-of-care Chemistry Test for Solving the Emergency Department Crowding Completed NCT01402635
19 Comparison of Patient Care Management Strategies of Heart Failure in the Rhône-Alpes Region. A Clinical and Economic Study. Completed NCT02763670
20 Is The Sudden Onset of Dizziness A Symptom of Acute Liver Dysfunction?An ED Study Completed NCT02733549
21 Screening for Occult Malignancy in Patients With Idiopathic Venous Thromboembolism: an Open Randomized Controlled Trial Using a Comprehensive Abdomen/Pelvis Computed Tomography Completed NCT00773448
22 A 5-Year Long-term Follow-up Study of a Cross-Sectional Cohort Study (PK-VF) For the Examination of the Association of Vitamin D/Bone Turnover/Bone Mineral Density With an Incident Fracture in Chinese Postmenopausal Women Completed NCT02247011
23 Risk Factors, Hepatic Dysfunction, and Open-heart Surgery Completed NCT04271098
24 A Prospective, Mono-center, Interventional Study Evaluating the Effect of One Year Initial Care by Hygieno-dietary Advices With or Without Phlebotomy on Glycemia After at Least 5 Years in Patients With Dysmetabolic Iron Overload Syndrome Completed NCT03942432
25 Non-respiratory Comorbidities Observed in Pulmonary French Transplant Patients With Cystic Fibrosis - Exploratory Study From the French Cohort on 2004-2014. Completed NCT03357913
26 Caries Risk Assessment in Children and Adolescents in the Alpes Maritimes (France) Completed NCT01372436
27 SALTO -2 ( Long Term Monitoring In Oncology ) : Getting Long-term Management of Adult Children Cured of Childhood Cancer in Rhône-Alpes, Multicentric Study Completed NCT02675166
28 SALTO-BIO (Long Term Follow up in Oncology) - PanCareLIFE. Long Term Support for Pediatric Cancer Survivors in Rhône-Alpes. Evaluation of Women Fertility. Completed NCT02665819
29 Long-term Follow-up of Childhood Cancer Survivors in the Rhône-Alpes and Auvergne Regions of France Completed NCT01531478
30 Prevalence of Dissociative Disorders in Children in a Population Supported in the Medico-social and Health Structures in Provence Alpes Cote d'Azur Completed NCT01512641
31 HPV (Papilloma Human Virus) Vaccination in Young Women With Cystic Fibrosis and Followed in the Auvergne Rhône-Alpes Region Completed NCT03265743
32 Shunt Evaluation With ALPE System in Thoracic Surgery Completed NCT02968550
33 Estimation of Osteoporosis' Prevalence in France: Pilot Study in the Department of the Alpes-Maritimes Completed NCT00821925
34 Antitetanus Vaccination for People Older Than 65 Years in the Auvergne-Rhône-Alpes (France) Region Depending on the Demographic and Medical Practice of Their Medical Practitioner. Completed NCT03266211
35 Vaccine Exposure in Patients With Multiple Sclerosis in the Auvergne-Rhone-Alpes Region Completed NCT03191669
36 Assessment of Cardiac Autonomic Function in Adulthood After Chemotherapy or Radiotherapy in Childhood. Ancillary Study of the "Long-term Follow-up of Childhood Cancer Survivors in the Rhône-Alpes and Auvergne Regions of France" Study Completed NCT01574196
37 Internet Gaming Disorder Prevalence of Teenager Psychiatric Inpatient of 4 Psychiatric Units of French Region Auvergne-Rhône-Alpes Completed NCT03366948
38 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
39 Clinical Outcomes of the ALPS Proximal Humerus Plating System Recruiting NCT03328650
40 Evaluation of the Prevalence of Sleep Apnea Syndrome in Patients With Hepatocellular Carcinoma Recruiting NCT04190498
41 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 Recruiting NCT04176341
42 Abdominal Massage to Prevent Postoperative Ileus as Part of an Enhanced Recovery Program After Colorectal Surgery Recruiting NCT04462705
43 Screening for Occult Malignancy Using 18F-Fluorodeoxyglucose Positron Emission Tomography/Computed Tomography (FDG PET/CT) in Patients With Unprovoked Venous Thromboembolism Recruiting NCT04304651
44 The Role of Immune Semaphorins in NAFLD Recruiting NCT04573543
45 Venous Congestion and Organ Dysfunction in Intensive Care: a Prospective, Multicenter, Observational Study to Evaluate Prevalence and Risk Factors. Recruiting NCT04680728
46 The Potential Therapeutic Role of Hydroxyethyl Starch and Hydrocortisone in Acute Aluminum Phosphide Poisoning: A Randamized Controlled Clinical Trial Recruiting NCT04465539 Hydroxyethyl Starch 130-0.4 60 MG/ML [Voluven];Hydrocortisone;Placebo
47 Clinical and Social Trajectories of Children and Adolescents With Disruptive Behavior: Multidisciplinary Approach of Pediatric and Psychiatric Emergencies in the Rhône-Alpes Auvergne Region Recruiting NCT02812537
48 Neurological Outcomes of Primary Intracerebral Haemorrhage Admitted in Intensive Care Unit at the University Hospital of Grenoble Alpes Recruiting NCT03995940
49 Population-based Cancer Observatory of the French Region Sud-Provence-Alpes-Côte d'Azur Recruiting Incident Cases of Cancer Since 2005 Recruiting NCT03687151
50 "Au Labo Sans Ordo ": A 12 Month Local Experimentation of Free HIV Testing Without Prescription in Private Medical and Biological Laboratories in Paris and in the Alpes-Maritimes Recruiting NCT04030689

Search NIH Clinical Center for Autoimmune Lymphoproliferative Syndrome

Cochrane evidence based reviews: autoimmune lymphoproliferative syndrome

Sources

Genetic Tests for Autoimmune Lymphoproliferative Syndrome

About this section

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
Liver, Spleen, T Cells, Bone, Bone Marrow, Thyroid, Smooth Muscle
Sources

Publications for Autoimmune Lymphoproliferative Syndrome

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Articles related to Autoimmune Lymphoproliferative Syndrome:

(show top 50) (show all 3301)
# Title Authors PMID Year
1
Autoimmune lymphoproliferative syndrome with somatic Fas mutations. 25 6 57 54 61
15459302 2004
2
Fas ligand mutation in a patient with systemic lupus erythematosus and lymphoproliferative disease. 61 57 6 54 25
8787672 1996
3
Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome. 25 57 6 61 54
7540117 1995
4
Autoimmune lymphoproliferative syndrome (ALPS) in a child from consanguineous parents: a dominant or recessive disease? 25 57 6 61
10709732 2000
5
Missense mutations in the Fas gene resulting in autoimmune lymphoproliferative syndrome: a molecular and immunological analysis. 54 6 57 61
9028321 1997
6
Mutations in Fas associated with human lymphoproliferative syndrome and autoimmunity. 25 57 6
7539157 1995
7
The development of lymphomas in families with autoimmune lymphoproliferative syndrome with germline Fas mutations and defective lymphocyte apoptosis. 61 25 57 54
11418480 2001
8
Lymphoproliferative syndrome with autoimmunity: A possible genetic basis for dominant expression of the clinical manifestations. 6 61 25 54
10515860 1999
9
Inherited human Caspase 10 mutations underlie defective lymphocyte and dendritic cell apoptosis in autoimmune lymphoproliferative syndrome type II. 61 54 6 25
10412980 1999
10
Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance. 54 25 6 61
10090885 1999
11
Defective CD95/APO-1/Fas signal complex formation in the human autoimmune lymphoproliferative syndrome, type Ia. 25 6 61 54
10200300 1999
12
The clinical spectrum in a large kindred with autoimmune lymphoproliferative syndrome caused by a Fas mutation that impairs lymphocyte apoptosis. 6 25 54 61
9821419 1998
13
Loss-of-function of the protein kinase C δ (PKCδ) causes a B-cell lymphoproliferative syndrome in humans. 25 6 61
23430113 2013
14
Onset of autoimmune lymphoproliferative syndrome (ALPS) in humans as a consequence of genetic defect accumulation. 61 25 57
21183795 2011
15
Somatic FAS mutations are common in patients with genetically undefined autoimmune lymphoproliferative syndrome. 61 25 57
20360470 2010
16
Fas gene mutations in the Canale-Smith syndrome, an inherited lymphoproliferative disorder associated with autoimmunity. 6 57
8929361 1996
17
Chronic lymphadenopathy simulating malignant lymphoma. 57 6
4165068 1967
18
B-cell deficiency and severe autoimmunity caused by deficiency of protein kinase C δ. 6 25
23319571 2013
19
Somatic Fas mutations in non-Hodgkin's lymphoma: association with extranodal disease and autoimmunity. 54 57 61
9787134 1998
20
Human autoimmune lymphoproliferative syndrome, a defect in the apoptosis-inducing Fas receptor: a lesson from the mouse model. 57 61 54
9609991 1998
21
Clincal, immunologic, and genetic features of an autoimmune lymphoproliferative syndrome associated with abnormal lymphocyte apoptosis. 61 54 57
9028957 1997
22
A novel lymphoproliferative/autoimmune syndrome resembling murine lpr/gld disease. 57 25
1386609 1992
23
Advances in the management and understanding of autoimmune lymphoproliferative syndrome (ALPS). 61 57
19930184 2010
24
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. 61 54 25
19176318 2009
25
Co-inherited mutations of Fas and caspase-10 in development of the autoimmune lymphoproliferative syndrome. 25 54 61
17999750 2007
26
Dominant inhibition of Fas ligand-mediated apoptosis due to a heterozygous mutation associated with autoimmune lymphoproliferative syndrome (ALPS) Type Ib. 61 54 25
17605793 2007
27
Genetic alterations in caspase-10 may be causative or protective in autoimmune lymphoproliferative syndrome. 25 54 61
16446975 2006
28
Identical phenotype in patients with somatic and germline CD95 mutations requires a new diagnostic approach to autoimmune lymphoproliferative syndrome. 61 25 54
16291365 2005
29
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 25
15870181 2005
30
Bilateral uveitis in a patient with autoimmune lymphoproliferative syndrome. 57 61
15767081 2005
31
Development of lymphoma in Autoimmune Lymphoproliferative Syndrome (ALPS) and its relationship to Fas gene mutations. 54 25 61
15160902 2004
32
Pleiotropic defects in lymphocyte activation caused by caspase-8 mutations lead to human immunodeficiency. 61 54 25
12353035 2002
33
Caspase-10 is an initiator caspase in death receptor signaling. 54 25 61
11717445 2001
34
Description of serologic features in autoimmune lymphoproliferative syndrome. 61 25 54
10960521 2000
35
Pathological findings in human autoimmune lymphoproliferative syndrome. 54 61 25
9811346 1998
36
Autoimmune lymphoproliferative syndrome caused by a homozygous FasL mutation that disrupts FasL assembly. 61 25
26456038 2016
37
Sirolimus is effective in relapsed/refractory autoimmune cytopenias: results of a prospective multi-institutional trial. 61 25
26504182 2016
38
Decreased activation-induced cell death by EBV-transformed B-cells from a patient with autoimmune lymphoproliferative syndrome caused by a novel FASLG mutation. 61 25
26334989 2015
39
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 25
25451160 2014
40
Autoimmune lymphoproliferative syndrome: an update and review of the literature. 61 25
25086580 2014
41
Defective anti-polysaccharide response and splenic marginal zone disorganization in ALPS patients. 61 25
24970930 2014
42
Natural history of autoimmune lymphoproliferative syndrome associated with FAS gene mutations. 25 61
24398331 2014
43
IL-17 protects T cells from apoptosis and contributes to development of ALPS-like phenotypes. 61 25
24363402 2014
44
Sequential decisions on FAS sequencing guided by biomarkers in patients with lymphoproliferation and autoimmune cytopenia. 61 25
23850805 2013
45
Investigation of common variable immunodeficiency patients and healthy individuals using autoimmune lymphoproliferative syndrome biomarkers. 61 25
23993982 2013
46
The expanding spectrum of the autoimmune lymphoproliferative syndromes. 25 61
24240292 2013
47
Protein kinase cδ deficiency causes mendelian systemic lupus erythematosus with B cell-defective apoptosis and hyperproliferation. 6
23666743 2013
48
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. 25 61
23524443 2013
49
Autoimmune lymphoproliferative syndrome caused by a homozygous null FAS ligand (FASLG) mutation. 61 25
22857792 2013
50
Elevated vitamin B₁₂ levels in autoimmune lymphoproliferative syndrome attributable to elevated haptocorrin in lymphocytes. 25 61
22306884 2012
Sources

Variations for Autoimmune Lymphoproliferative Syndrome

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ClinVar genetic disease variations for Autoimmune Lymphoproliferative Syndrome:

6 (show top 50) (show all 527)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FAS NM_000043.6(FAS):c.569-2A>C SNV Pathogenic 16500 rs606231363 10:90771754-90771754 10:89011997-89011997
2 FAS NM_000043.6(FAS):c.361C>T (p.Arg121Trp) SNV Pathogenic 16502 rs121913078 10:90768672-90768672 10:89008915-89008915
3 FAS NM_000043.6(FAS):c.651+2T>A SNV Pathogenic 16507 rs267607122 10:90771840-90771840 10:89012083-89012083
4 FAS NM_000043.6(FAS):c.651+2T>C SNV Pathogenic 16514 rs267607122 10:90771840-90771840 10:89012083-89012083
5 FAS NM_000043.6(FAS):c.334+2dup Duplication Pathogenic 16498 rs606231362 10:90767595-90767596 10:89007838-89007839
6 PRKCD NM_006254.4(PRKCD):c.1352+1G>A SNV Pathogenic 89076 rs398122958 3:53220712-53220712 3:53186696-53186696
7 PRKCD NM_006254.4(PRKCD):c.1528G>A (p.Gly510Ser) SNV Pathogenic 157674 rs606231296 3:53222848-53222848 3:53188832-53188832
8 PRKCD NM_006254.4(PRKCD):c.1840C>T (p.Arg614Trp) SNV Pathogenic 157675 rs606231297 3:53223985-53223985 3:53189969-53189969
9 FAS NM_000043.6(FAS):c.232del (p.Asp78fs) Deletion Pathogenic 16497 rs606231361 10:90767489-90767489 10:89007732-89007732
10 FAS NM_000043.6(FAS):c.721A>C (p.Thr241Pro) SNV Pathogenic 16499 rs121913076 10:90773920-90773920 10:89014163-89014163
11 FAS NM_000043.6(FAS):c.779A>T (p.Asp260Val) SNV Pathogenic 16504 rs28929498 10:90773978-90773978 10:89014221-89014221
12 FAS NM_000043.6(FAS):c.809C>T (p.Thr270Ile) SNV Pathogenic 16506 rs121913081 10:90774008-90774008 10:89014251-89014251
13 FAS NM_000043.6(FAS):c.740G>C (p.Gly247Ala) SNV Pathogenic 16513 rs121913085 10:90773939-90773939 10:89014182-89014182
14 FAS NM_000043.6(FAS):c.778G>T (p.Asp260Tyr) SNV Pathogenic 16516 rs121913086 10:90773977-90773977 10:89014220-89014220
15 CASP10 NM_032977.3(CASP10):c.853C>T (p.Leu285Phe) SNV Pathogenic 7764 rs17860403 2:202072837-202072837 2:201208114-201208114
16 PRKCD NM_006254.4(PRKCD):c.571C>T (p.Gln191Ter) SNV Pathogenic 958249 3:53215748-53215748 3:53181732-53181732
17 FAS NM_000043.6(FAS):c.73G>A (p.Ala25Thr) SNV Pathogenic 16508 rs606231364 10:90762828-90762828 10:89003071-89003071
18 FAS NM_000043.6(FAS):c.968_987dup (p.Glu330fs) Duplication Pathogenic 16509 rs606231365 10:90774166-90774167 10:89014409-89014410
19 FAS NM_000043.6(FAS):c.692_693insT (p.Lys231fs) Insertion Pathogenic 16515 rs606231366 10:90773891-90773892 10:89014134-89014135
20 FAS NM_000043.6(FAS):c.817C>T (p.Gln273Ter) SNV Pathogenic 16501 rs121913077 10:90774016-90774016 10:89014259-89014259
21 FAS NM_000043.6(FAS):c.695A>G (p.Tyr232Cys) SNV Pathogenic 16503 rs121913079 10:90773894-90773894 10:89014137-89014137
22 FAS NM_000043.6(FAS):c.749G>C (p.Arg250Pro) SNV Pathogenic 16505 rs121913080 10:90773948-90773948 10:89014191-89014191
23 FAS NM_000043.6(FAS):c.651+1G>T SNV Pathogenic 650729 rs1564696849 10:90771839-90771839 10:89012082-89012082
24 FAS NM_000043.6(FAS):c.652-1G>A SNV Pathogenic 664079 rs1589488463 10:90773099-90773099 10:89013342-89013342
25 FAS NM_000043.6(FAS):c.657_658del (p.Val220fs) Deletion Pathogenic 692047 rs1589488494 10:90773105-90773106 10:89013348-89013349
26 FAS NM_000043.6(FAS):c.755del (p.Asn252fs) Deletion Pathogenic 578533 rs1564699214 10:90773953-90773953 10:89014196-89014196
27 FAS NM_000043.6(FAS):c.110T>A (p.Leu37Ter) SNV Pathogenic 580709 rs1564686301 10:90762865-90762865 10:89003108-89003108
28 FAS NM_000043.6(FAS):c.676+1G>A SNV Pathogenic 645697 rs1589488640 10:90773125-90773125 10:89013368-89013368
29 FAS-AS1 NC_000010.11:g.(?_88989499)_(89247668_?)del Deletion Pathogenic 831277 10:90749256-91007425
30 FAS-AS1 NC_000010.11:g.(?_88770845)_(89328078_?)del Deletion Pathogenic 832890 10:90530602-91087835
31 FAS NM_000043.6(FAS):c.38del (p.Thr13fs) Deletion Pathogenic 851315 10:90762793-90762793 10:89003036-89003036
32 FAS NM_000043.6(FAS):c.617del (p.Asn206fs) Deletion Pathogenic 847065 10:90771801-90771801 10:89012044-89012044
33 FAS NM_000043.6(FAS):c.563_566del (p.Val188fs) Deletion Pathogenic 861416 10:90770564-90770567 10:89010807-89010810
34 FAS NM_000043.6(FAS):c.817C>T (p.Gln273Ter) SNV Pathogenic 16501 rs121913077 10:90774016-90774016 10:89014259-89014259
35 FAS NM_000043.6(FAS):c.748C>T (p.Arg250Ter) SNV Pathogenic 802620 rs778993919 10:90773947-90773947 10:89014190-89014190
36 FAS NM_000043.6(FAS):c.651+2_651+3insTGAAAT Insertion Pathogenic 802619 rs1589485636 10:90771839-90771840 10:89012082-89012083
37 FAS NM_000043.6(FAS):c.415del (p.Val139fs) Deletion Pathogenic 802618 rs1589478691 10:90768726-90768726 10:89008969-89008969
38 FAS NM_000043.6(FAS):c.178del (p.His60fs) Deletion Pathogenic 802617 rs1589465172 10:90762932-90762932 10:89003175-89003175
39 FASLG NM_000639.3(FASLG):c.473_556del (p.Met158_Glu185del) Deletion Pathogenic 16495 rs80358236 1:172634782-172634865 1:172665642-172665725
40 FASLG NM_000639.3(FASLG):c.263del (p.Phe88fs) Deletion Pathogenic 156103 rs587776450 1:172628600-172628600 1:172659460-172659460
41 FAS NM_000043.6(FAS):c.651+1G>A SNV Pathogenic/Likely pathogenic 573761 rs1564696849 10:90771839-90771839 10:89012082-89012082
42 FAS NM_000043.6(FAS):c.197-2A>G SNV Likely pathogenic 598753 rs1564691414 10:90767455-90767455 10:89007698-89007698
43 FAS NM_000043.6(FAS):c.749G>C (p.Arg250Pro) SNV Likely pathogenic 16505 rs121913080 10:90773948-90773948 10:89014191-89014191
44 PRKCD NM_006254.4(PRKCD):c.788-2A>G SNV Likely pathogenic 541623 rs1295207359 3:53218888-53218888 3:53184872-53184872
45 CASP10 NM_032977.3(CASP10):c.1216A>C (p.Ile406Leu) SNV Conflicting interpretations of pathogenicity 7769 rs80358239 2:202074086-202074086 2:201209363-201209363
46 FASLG NM_000639.3(FASLG):c.176C>T (p.Pro59Leu) SNV Conflicting interpretations of pathogenicity 293732 rs375737004 1:172628517-172628517 1:172659377-172659377
47 FASLG NM_000639.3(FASLG):c.280T>G (p.Leu94Val) SNV Conflicting interpretations of pathogenicity 293735 rs56302117 1:172628621-172628621 1:172659481-172659481
48 FAS NM_000043.6(FAS):c.580G>A (p.Glu194Lys) SNV Conflicting interpretations of pathogenicity 134374 rs56006128 10:90771767-90771767 10:89012010-89012010
49 FASLG NM_000639.3(FASLG):c.364C>A (p.His122Asn) SNV Conflicting interpretations of pathogenicity 293736 rs140406512 1:172629250-172629250 1:172660110-172660110
50 FAS NM_000043.6(FAS):c.867A>C (p.Glu289Asp) SNV Conflicting interpretations of pathogenicity 301531 rs377337130 10:90774066-90774066 10:89014309-89014309

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

Sources

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 59)
# 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
 13.88 PRKCD NRAS IL2RA IL2 FASLG FAS
3
ERK Signaling 63
Show member pathways
 13.76 RASGRP1 PRKCD NRAS IL2RA IL2 IL10
4
PEDF Induced Signaling 63
Show member pathways
 13.71 PRKCD NRAS IL2RA IL2 IL10 FASLG
5
Akt Signaling 63
Show member pathways
 13.43 PRKCD NRAS IL2RA IL2 IL10 FASLG
6
Cytokine Signaling in Immune system 65
Show member pathways
 13.38 RASGRP1 PRKCD NRAS IL2RA IL2 IL10
7
PAK Pathway 63
Show member pathways
 13.18 PTPRC PRKCD NRAS IL2RA IL2 IL10
8
Toll-like Receptor Signaling Pathway 36 1
Show member pathways
 13.06 NRAS IL2 IL10 FASLG FAS FADD
9
TNFR1 Pathway 63
Show member pathways
 13.04 PTPRC PRKCD NRAS FASLG FAS FADD
10
PI3K-Akt signaling pathway 36
Show member pathways
 12.96 NRAS IL2RA IL2 FASLG FAS FADD
11
TCR Signaling (Qiagen) 63
Show member pathways
 12.95 RASGRP1 PTPRC PRKCD NRAS CTLA4 ACTA2
12
Measles 36
Show member pathways
 12.83 IL2RA IL2 FASLG FAS FADD CASP8
13
MAPK signaling pathway 36 1
12.81 RASGRP1 PRKCD NRAS FASLG FAS CASP8
14
Salmonella infection (KEGG) 36
Show member pathways
 12.76 PTPRC FASLG FAS FADD CASP8
15
Chks in Checkpoint Regulation 63
Show member pathways
 12.75 FASLG FAS FADD CASP8 CASP10 BCL2L11
16
Immune response NFAT in immune response 23
Show member pathways
 12.66 RASGRP1 PTPRC IL2RA IL2 IL10
17
Apoptosis Modulation and Signaling 1
Show member pathways
 12.66 PRF1 NRAS FASLG FAS FADD CASP8
18
Pathways in cancer 36
12.64 RASGRP1 NRAS IL2RA IL2 FASLG FAS
19
TRAF Pathway 63
Show member pathways
 12.61 PRKCD FASLG FAS FADD CASP8 CASP10
20
nNOS Signaling in Skeletal Muscle 63
Show member pathways
 12.6 PRF1 NRAS FASLG FAS FADD CASP8
21
Immune response Role of DAP12 receptors in NK cells 23
Show member pathways
 12.56 PRF1 NRAS IL2 FASLG FAS
22
NF-kappaB Signaling 4
12.55 PTPRC IL2RA IL2 IL10 FASLG FAS
23
T cell receptor signaling pathway 36
Show member pathways
 12.47 RASGRP1 PTPRC PRKCD NRAS IL2 IL10
24
Apoptosis Pathway 70
Show member pathways
 12.46 PRKCD NRAS IL2RA IL2 CASP8 CASP10
25
B Cell Receptor Signaling Pathway (sino) 66
Show member pathways
 12.45 RASGRP1 PTPRC PRKCD NRAS
26
JAK-STAT signaling pathway 36
Show member pathways
 12.42 PRKCD IL2RA IL2 IL10
27
TNF signaling 65
Show member pathways
 12.39 FASLG FAS FADD CASP8 CASP10
28
ICos-ICosL Pathway in T-Helper Cell 63
Show member pathways
 12.39 PTPRC PRKCD IL2RA IL2 CTLA4 ACTA2
29
Dimerization of procaspase-8 65
Show member pathways
 12.35 FASLG FAS FADD CASP8 CASP10
30
Allograft rejection 36 1
Show member pathways
 12.35 PRF1 IL2RA IL2 IL10 FASLG FAS
31
p53 Signaling 63
Show member pathways
 12.28 FASLG FAS CASP8 CASP10
32
Apoptosis and Autophagy 4
12.28 FASLG FAS FADD CASP8 BCL2L11
33
Tuberculosis 36
12.26 IL10 FADD CASP8 CASP10
34
C-type lectin receptor signaling pathway 36
Show member pathways
 12.24 PRKCD NRAS IL2 IL10 CASP8
35
Necroptosis 36
Show member pathways
 12.23 FASLG FAS FADD CASP8
36
Apoptosis and survival Caspase cascade 23
Show member pathways
 12.19 PRF1 FASLG FAS FADD CASP8 CASP10
37
FoxO signaling pathway 36
Show member pathways
 12.13 NRAS IL10 FASLG BCL2L11
38
Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers 64
12.04 PTPRC IL2RA IL2 IL10
39
Ceramide Pathway 63
Show member pathways
 12.04 PRKCD NRAS FADD CASP8 CASP10
40
TNF signaling pathway 36
12.03 FAS FADD CASP8 CASP10
41
S-1P Stimulated Signaling 63
11.98 RASGRP1 NRAS CASP8 CASP10
42
VEGF Pathway (Tocris) 60
Show member pathways
 11.87 PRKCD NRAS CASP8 CASP10
43
Innate Lymphoid Cell Differentiation Pathways 64
11.85 PTPRC IL2RA IL2 IL10
44
Calcineurin-regulated NFAT-dependent transcription in lymphocytes 1
Show member pathways
 11.82 IL2RA IL2 FASLG CTLA4
45
Platinum drug resistance 36
11.79 FASLG FAS FADD CASP8
46
Commom Cytokine Receptor G Chain Siganaling Pathway 66
11.78 PTPRC NRAS IL2RA IL2
47
Dendritic Cells Developmental Lineage Pathway 64
11.77 PTPRC IL2 IL10
48
IL2 signaling events mediated by PI3K 1
Show member pathways
 11.74 PRF1 IL2RA IL2 FASLG
49
IgA-Producing B Cells in the Intestine 64
11.71 IL2RA IL10 CTLA4
50
Downstream signaling in naive CD8+ T cells 1
Show member pathways
 11.68 PRF1 IL2RA IL2 FASLG
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 external side of plasma membrane GO:0009897 9.72 PTPRC IL2RA FASLG FAS CTLA4
2 membrane raft GO:0045121 9.65 PTPRC FASLG FAS FADD CASP8
3 cell body GO:0044297 9.54 FADD CASP8 ACTA2
4 death-inducing signaling complex GO:0031264 9.33 FAS FADD CASP8
5 ripoptosome GO:0097342 9.13 FADD CASP8 CASP10
6 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 44)
# Name GO ID Score Top Affiliating Genes
1 immune response GO:0006955 10.05 IL2RA IL2 IL10 FASLG FAS CTLA4
2 cell surface receptor signaling pathway GO:0007166 10 PTPRC IL2RA FADD CASP8 CASP10
3 MAPK cascade GO:0000165 9.99 RASGRP1 NRAS IL2RA IL2
4 defense response to virus GO:0051607 9.96 UNC13D PTPRC PRF1 FADD
5 regulation of apoptotic process GO:0042981 9.96 FAS FADD CASP8 CASP10 BCL2L11
6 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.94 FASLG FADD CASP8 CASP10
7 negative regulation of inflammatory response GO:0050728 9.89 PRKCD MIR146A IL2RA IL2 IL10
8 positive regulation of apoptotic process GO:0043065 9.87 MIR146A FASLG FAS FADD CTLA4 CASP8
9 positive regulation of tumor necrosis factor production GO:0032760 9.85 RASGRP1 PTPRC FADD
10 cellular response to mechanical stimulus GO:0071260 9.85 FAS FADD CASP8
11 positive regulation of interferon-gamma production GO:0032729 9.83 RASGRP1 IL2 FADD
12 positive regulation of T cell proliferation GO:0042102 9.83 PTPRC IL2RA IL2
13 T cell activation GO:0042110 9.8 RASGRP1 PTPRC CASP8
14 negative regulation of T cell proliferation GO:0042130 9.79 IL2RA IL10 CTLA4
15 extrinsic apoptotic signaling pathway GO:0097191 9.78 FASLG FAS FADD CASP8
16 extrinsic apoptotic signaling pathway via death domain receptors GO:0008625 9.76 FASLG FADD CASP8
17 T cell homeostasis GO:0043029 9.74 IL2RA FADD BCL2L11
18 negative regulation of extrinsic apoptotic signaling pathway via death domain receptors GO:1902042 9.73 FASLG FAS FADD CASP8
19 positive regulation of activated T cell proliferation GO:0042104 9.72 IL2RA IL2 FADD
20 natural killer cell activation GO:0030101 9.71 RASGRP1 IL2 CASP8
21 B cell proliferation GO:0042100 9.71 RASGRP1 PTPRC PRKCD IL10
22 positive regulation of T cell differentiation GO:0045582 9.7 PTPRC IL2RA IL2
23 activation of cysteine-type endopeptidase activity GO:0097202 9.69 FADD CASP8
24 negative regulation of peptidyl-tyrosine phosphorylation GO:0050732 9.69 PTPRC PRKCD
25 regulation of regulatory T cell differentiation GO:0045589 9.69 IL2RA IL2 CTLA4
26 negative regulation of immune response GO:0050777 9.68 IL2RA CTLA4
27 positive regulation of macrophage differentiation GO:0045651 9.68 FADD CASP8
28 toll-like receptor 3 signaling pathway GO:0034138 9.68 FADD CASP8
29 interleukin-2-mediated signaling pathway GO:0038110 9.67 IL2RA IL2
30 positive regulation of isotype switching to IgG isotypes GO:0048304 9.67 PTPRC IL2
31 extrinsic apoptotic signaling pathway in absence of ligand GO:0097192 9.67 IL2 FAS FADD BCL2L11
32 death-inducing signaling complex assembly GO:0071550 9.66 FADD CASP8
33 regulation of necroptotic process GO:0060544 9.65 FADD CASP8
34 apoptotic signaling pathway GO:0097190 9.65 FASLG FAS FADD CASP8 CASP10
35 negative regulation of lymphocyte proliferation GO:0050672 9.64 IL2RA IL2
36 TRAIL-activated apoptotic signaling pathway GO:0036462 9.63 FADD CASP8
37 activation-induced cell death of T cells GO:0006924 9.63 IL2RA FAS
38 necroptotic signaling pathway GO:0097527 9.63 FASLG FAS FADD
39 motor neuron apoptotic process GO:0097049 9.61 FAS FADD
40 apoptotic process GO:0006915 9.61 PRKCD PRF1 IL2RA FASLG FAS FADD
41 positive regulation of plasma cell differentiation GO:1900100 9.6 IL2 IL10
42 regulation of T cell homeostatic proliferation GO:0046013 9.59 IL2RA IL2
43 regulation of extrinsic apoptotic signaling pathway via death domain receptors GO:1902041 9.46 FASLG FAS FADD CASP8
44 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.1 FASLG FAS FADD CASP8 CASP10 BCL2L11

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 9.65 PTPRC PRKCD LRBA BCL2L11 ACTA2
2 cysteine-type endopeptidase activity involved in apoptotic process GO:0097153 9.4 CASP8 CASP10
3 cysteine-type endopeptidase activity involved in execution phase of apoptosis GO:0097200 9.37 CASP8 CASP10
4 tumor necrosis factor receptor binding GO:0005164 9.33 FASLG FADD CASP8
5 cysteine-type endopeptidase activity involved in apoptotic signaling pathway GO:0097199 9.32 CASP8 CASP10
6 death receptor binding GO:0005123 9.13 FASLG FADD CASP8
7 death effector domain binding GO:0035877 8.8 FADD CASP8 CASP10
Sources

Sources for Autoimmune Lymphoproliferative Syndrome

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
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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