Autoimmune Lymphoproliferative Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

ALPS1A MCID: ATM006 MIFTS: 71	Autoimmune Lymphoproliferative Syndrome (ALPS1A) Categories: Blood diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Rare diseases
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Aliases & Classifications for Autoimmune Lymphoproliferative Syndrome

MalaCards integrated aliases for Autoimmune Lymphoproliferative Syndrome:

Name: Autoimmune Lymphoproliferative Syndrome ⁵⁸ ¹² ²⁵ ⁵⁴ ²⁶ ⁶⁰ ³⁰ ⁵⁶ ⁶ ⁴⁵ ¹⁵ ⁴¹ ⁷⁴

Canale-Smith Syndrome ⁵⁸ ¹² ⁵⁴ ²⁶ ⁶⁰ ⁷⁶

Alps ⁵⁸ ¹² ²⁵ ⁵⁴ ²⁶ ⁶⁰

Autoimmune Lymphoproliferative Syndrome, Type Ia ⁵⁸ ¹³ ⁷⁴

Autoimmune Lymphoproliferative Syndrome, Type Ib ⁵⁸ ⁷⁴

Autoimmune Lymphoproliferative Syndrome, Type 1b ³⁰ ⁶

Autoimmune Lymphoproliferative Syndrome, Type 1a ³⁰ ⁶

Fas Deficiency ⁵⁴ ⁶⁰

Autoimmune Lymphoproliferative Syndrome, Type I, Autosomal Dominant ⁵⁸

Autoimmune Lymphoproliferative Syndrome Type 1, Autosomal Dominant ⁵⁴

Autoimmune Lymphoproliferative Syndrome Type Ia ⁷⁶

Autoimmune Lymphoproliferative Syndrome Type Ib ⁷⁶

Autoimmune Lymphoproliferative Syndrome 1a ⁷⁶

Autoimmune Lymphoproliferative Syndrome 1b ⁷⁶

Autoimmune Lymphoproliferative Syndromes ³⁸

Alps1a ⁷⁶

Alps1b ⁷⁶

Css ⁷⁶

Characteristics:

Orphanet epidemiological data:

⁶⁰

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

OMIM:

⁵⁸

Inheritance:
autosomal dominant

Miscellaneous:
onset in early childhood
recessive inheritance has been reported

HPO:

³³

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
Anatomical: Blood diseases Immune diseases Gastrointestinal diseases

See all MalaCards categories (disease lists)

ICD10: ³⁵

Neoplasms

Neoplasms of uncertain or unknown behaviour

Other neoplasms of uncertain or unknown behaviour of lymphoid, haematopoietic and related tissue

Neoplasm of uncertain or unknown behaviour of lymphoid, haematopoietic and related tissue, unspecified

Orphanet: ⁶⁰

Rare haematological diseases

Rare immunological diseases

External Ids:

Disease Ontology ¹² DOID:6688

OMIM ⁵⁸ 601859

KEGG ³⁸ H00108

ICD9CM ³⁶ 279.41

MeSH ⁴⁵ D056735

NCIt ⁵¹ C37864

ICD10 ³⁴ D89.82

MESH via Orphanet ⁴⁶ D056735

ICD10 via Orphanet ³⁵ D47.9

UMLS via Orphanet ⁷⁵ C1328840

Orphanet ⁶⁰ ORPHA3261

MedGen ⁴³ C1328840 C1866119 C1866120 more

UMLS ⁷⁴ C1328840 C1866119 C1866120

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Summaries for Autoimmune Lymphoproliferative Syndrome

NIH Rare Diseases : ⁵⁴ Autoimmune lymphoproliferative syndrome (ALPS) is a disorder in which the body cannot properly regulate the number of immune systemcells (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.

MalaCards based summary : Autoimmune Lymphoproliferative Syndrome, also known as canale-smith syndrome, is related to autoimmune lymphoproliferative syndrome, type iii and lymphoproliferative syndrome. An important gene associated with Autoimmune Lymphoproliferative Syndrome is FASLG (Fas Ligand), and among its related pathways/superpathways are Apoptosis and Signaling by GPCR. The drugs Valproic Acid and Everolimus have been mentioned in the context of this disorder. Affiliated tissues include lymph node, liver and spleen, and related phenotypes are splenomegaly and hepatomegaly

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.

Genetics Home Reference : ²⁶ Autoimmune lymphoproliferative syndrome (ALPS) is an inherited disorder in which the body cannot properly regulate the number of immune system cells (lymphocytes). ALPS is characterized by the production of an abnormally large number of lymphocytes (lymphoproliferation). Accumulation of excess lymphocytes results in enlargement of the lymph nodes (lymphadenopathy), the liver (hepatomegaly), and the spleen (splenomegaly).

OMIM : ⁵⁸ 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)

UniProtKB/Swiss-Prot : ⁷⁶ 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.

Wikipedia : ⁷⁷ Autoimmune lymphoproliferative syndrome (ALPS), also known as Canale-Smith syndrome, is a form of... more...

GeneReviews: NBK1108

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Related Diseases for Autoimmune Lymphoproliferative Syndrome

Diseases in the Lymphoproliferative Syndrome family:

Autoimmune Lymphoproliferative Syndrome	Autoimmune Lymphoproliferative Syndrome, Type Iia
Lymphoproliferative Syndrome 1	Lymphoproliferative Syndrome 2
Autoimmune Lymphoproliferative Syndrome, Type Iii	Autoimmune Lymphoproliferative Syndrome, Type V
Lymphoproliferative Syndrome 3	Autoimmune Lymphoproliferative Syndrome Due to Ctla4 Haploinsuffiency
Autosomal Recessive Lymphoproliferative Disease

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

(show top 50) (show all 140)

#	Related Disease	Score	Top Affiliating Genes
1	autoimmune lymphoproliferative syndrome, type iii	34.9	CASP10 FASLG PRKCD
2	lymphoproliferative syndrome	31.4	CASP10 CASP8 CTLA4 FAS FASLG IL2
3	uveitis	30.4	CTLA4 IL10 IL2RA
4	chronic active epstein-barr virus infection	30.4	CTLA4 IL10 IL2
5	immunodysregulation, polyendocrinopathy, and enteropathy, x-linked	30.2	IL10 IL2 IL2RA
6	common variable immunodeficiency	30.2	CTLA4 FAS IL10 IL2 IL2RA LRBA
7	hemophagocytic lymphohistiocytosis	30.1	FAS IL10 IL2RA PRF1 UNC13D
8	autoimmune disease	30.1	CTLA4 FAS IL10 IL2 IL2RA
9	alopecia areata	30.0	CTLA4 FASLG IL2 IL2RA
10	systemic lupus erythematosus	29.7	CTLA4 FAS FASLG IL10 IL2 IL2RA
11	lymphoma, non-hodgkin, familial	29.7	CASP10 CASP8 FAS IL2 IL2RA NRAS
12	autoimmune lymphoproliferative syndrome, type iia	12.8
13	autoimmune lymphoproliferative syndrome, type v	12.6
14	autoimmune lymphoproliferative syndrome due to ctla4 haploinsuffiency	12.4
15	caspase 8 deficiency	12.1
16	ras-associated autoimmune leukoproliferative disorder	12.1
17	dianzani autoimmune lymphoproliferative disease	11.5
18	eosinophilic granulomatosis with polyangiitis	11.4
19	coffin-siris syndrome 1	11.4
20	infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations	11.2
21	lrba deficiency	10.5	CTLA4 LRBA
22	giant congenital nevus	10.5	HRAS NRAS
23	chronic venous leg ulcers	10.5	FAS FASLG
24	epstein-barr virus-associated gastric carcinoma	10.4	FAS FASLG IL10
25	type ii mixed cryoglobulinemia	10.4	FAS FASLG
26	thyroiditis	10.4	CTLA4 FASLG IL2
27	hypersensitivity reaction type iv disease	10.4	CASP10 FAS IL2
28	pneumoconiosis	10.4	CASP8 FAS FASLG
29	post-transplant lymphoproliferative disease	10.4	CASP8 FADD IL10
30	vulvar melanoma	10.4	CTLA4 HRAS NRAS
31	churg-strauss syndrome	10.4
32	allergic angiitis	10.4
33	hyperlucent lung	10.4	IL10 IL2RA
34	malignant skin fibrous histiocytoma	10.4	CTLA4 HRAS NRAS
35	malignant dermis tumor	10.4	CTLA4 HRAS NRAS
36	idiopathic neutropenia	10.4	FASLG IL10 IL2RA
37	hematopoietic stem cell transplantation	10.4	CTLA4 IL10 IL2
38	benign struma ovarii	10.4	HRAS NRAS
39	multisystemic smooth muscle dysfunction syndrome	10.4	ACTA2 FAS
40	vogt-koyanagi-harada disease	10.4	FAS IL10 IL2RA
41	paracoccidioidomycosis	10.4	CTLA4 IL10 IL2
42	hashimoto thyroiditis	10.4	CTLA4 FAS FASLG IL2RA
43	filariasis	10.3	CTLA4 IL10 IL2
44	intermediate uveitis	10.3	IL10 IL2 IL2RA
45	exanthem	10.3	CTLA4 HRAS IL2
46	b-cell expansion with nfkb and t-cell anergy	10.3	FASLG IL2 IL2RA
47	t cell deficiency	10.3	IL2 LRBA PTPRC
48	lymphoma	10.3
49	graft-versus-host disease	10.3	FAS FASLG IL10 IL2
50	brucellosis	10.3	IL10 IL2 IL2RA

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

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Symptoms & Phenotypes for Autoimmune Lymphoproliferative Syndrome

Human phenotypes related to Autoimmune Lymphoproliferative Syndrome:

³³ (show all 25)

#	Description	HPO Source Accession
1	splenomegaly ³³	HP:0001744
2	hepatomegaly ³³	HP:0002240
3	iron deficiency anemia ³³	HP:0001891
4	urticaria ³³	HP:0001025
5	vasculitis ³³	HP:0002633
6	eosinophilia ³³	HP:0001880
7	autoimmune hemolytic anemia ³³	HP:0001890
8	autoimmune thrombocytopenia ³³	HP:0001973
9	increased igg level ³³	HP:0003237
10	smooth muscle antibody positivity ³³	HP:0003262
11	antineutrophil antibody positivity ³³	HP:0003453
12	antinuclear antibody positivity ³³	HP:0003493
13	increased igm level ³³	HP:0003496
14	increased iga level ³³	HP:0003261
15	antiphospholipid antibody positivity ³³	HP:0003613
16	follicular hyperplasia ³³	HP:0002729
17	chronic noninfectious lymphadenopathy ³³	HP:0002730
18	rheumatoid factor positive ³³	HP:0002923
19	coombs-positive hemolytic anemia ³³	HP:0004844
20	reduced delayed hypersensitivity ³³	HP:0002972
21	platelet antibody positive ³³	HP:0003454
22	neutropenia in presence of anti-neutropil antibodies ³³	HP:0001904
23	decreased lymphocyte apoptosis ³³	HP:0002731
24	elevated proportion of cd4-negative, cd8-negative, alpha-beta regulatory t cells ³³	HP:0002851
25	increased proportion of hla dr+ t cells ³³	HP:0002853

Symptoms via clinical synopsis from OMIM:

⁵⁸

Abdomen Spleen:
splenomegaly

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

Immunology:
chronic noninfectious lymphadenopathy
defective lymphocyte apoptosis
increased number of peripheral cd3+ t cells
increased number of cd4-/cd8- t cells expressing alpha/beta t-cell receptors
increased proportion of hla dr+ and cd57+ t cells
more

Neoplasia:
increased risk of malignant lymphoma

Abdomen Liver:
hepatomegaly

Skin Nails Hair Skin:
urticaria
vasculitis rash

Laboratory Abnormalities:
rheumatoid factor positive
increased levels of igg
increased levels of iga
increased levels of igm
direct coombs positive
more

Clinical features from OMIM:

601859

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

²⁷

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Synthetic lethal with MLN4924 (a NAE inhibitor)	GR00250-A-1	9.89	BCL2L11 CASP8 FADD FAS IL10 IL2
2	Synthetic lethal with MLN4924 (a NAE inhibitor)	GR00250-A-2	9.89	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:

⁴⁷ (show all 18)

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	endocrine/exocrine gland	MP:0005379	10.45	BCL2L11 CASP8 CTLA4 FADD FAS FASLG
2	hematopoietic system	MP:0005397	10.45	BCL2L11 CASP8 CTLA4 FADD FAS FASLG
3	cardiovascular system	MP:0005385	10.42	ACTA2 BCL2L11 CASP8 CTLA4 FADD FAS
4	immune system	MP:0005387	10.42	BCL2L11 CASP8 CTLA4 FADD FAS FASLG
5	homeostasis/metabolism	MP:0005376	10.41	BCL2L11 CASP8 CTLA4 FADD FAS FASLG
6	cellular	MP:0005384	10.35	BCL2L11 CASP8 FADD FAS FASLG IL10
7	growth/size/body region	MP:0005378	10.35	BCL2L11 CASP8 FADD FAS HRAS IL10
8	digestive/alimentary	MP:0005381	10.34	CTLA4 FADD FAS FASLG HRAS IL10
9	mortality/aging	MP:0010768	10.31	BCL2L11 CASP8 CTLA4 FADD FAS FASLG
10	liver/biliary system	MP:0005370	10.27	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	no phenotypic analysis	MP:0003012	9.92	BCL2L11 FADD HRAS IL10 IL2 NRAS
15	normal	MP:0002873	9.91	BCL2L11 CTLA4 FAS FASLG HRAS IL10
16	renal/urinary system	MP:0005367	9.81	BCL2L11 CASP8 FAS FASLG HRAS PRKCD
17	respiratory system	MP:0005388	9.65	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

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

(show top 50) (show all 52)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Valproic Acid

Approved, Investigational

Phase 1, Phase 2

99-66-1

3121

Everolimus

Approved

Phase 1, Phase 2

159351-69-6

6442177 70789204

Sirolimus

Approved, Investigational

Phase 1, Phase 2

53123-88-9

46835353 6436030 5284616

Miconazole

Approved, Investigational, Vet_approved

Phase 1, Phase 2

22916-47-8

4189

Fludarabine

Approved

Phase 2

75607-67-9, 21679-14-1

30751

Melphalan

Approved

Phase 2

148-82-3

460612 4053

alemtuzumab

Approved, Investigational

Phase 2

216503-57-0

Thiotepa

Approved, Investigational

Phase 2

52-24-4

5453

Hydroxyurea

Approved

Phase 2

127-07-1

3657

Antimanic Agents

Phase 1, Phase 2

Central Nervous System Depressants

Phase 1, Phase 2

Psychotropic Drugs

Phase 1, Phase 2

Neurotransmitter Agents

Phase 1, Phase 2

Anticonvulsants

Phase 1, Phase 2

GABA Agents

Phase 1, Phase 2

Tranquilizing Agents

Phase 1, Phase 2

Antifungal Agents

Phase 1, Phase 2

Antibiotics, Antitubercular

Phase 1, Phase 2

Immunologic Factors

Phase 1, Phase 2,Phase 2

Immunosuppressive Agents

Phase 1, Phase 2,Phase 2

Anti-Infective Agents

Phase 1, Phase 2

Anti-Bacterial Agents

Phase 1, Phase 2

Antineoplastic Agents, Alkylating

Phase 2

Antimetabolites

Phase 2

Antineoplastic Agents, Immunological

Phase 2

Antimetabolites, Antineoplastic

Phase 2

Alkylating Agents

Phase 2

Nucleic Acid Synthesis Inhibitors

Phase 2

Pyrimethamine

Approved, Investigational, Vet_approved

Phase 1

58-14-0

4993

leucovorin

Approved

Phase 1

58-05-9

6006 143

Levoleucovorin

Approved, Investigational

Phase 1

68538-85-2

Sulfadoxine

Approved, Investigational

Phase 1

2447-57-6

17134

Folic Acid

Approved, Nutraceutical, Vet_approved

Phase 1

59-30-3

6037

Vitamin B Complex

Phase 1

Antimalarials

Phase 1

Vitamin B9

Phase 1

Folate

Phase 1

Antiparasitic Agents

Phase 1

Antiprotozoal Agents

Phase 1

Folic Acid Antagonists

Phase 1

Renal Agents

Phase 1

Anti-Infective Agents, Urinary

Phase 1

Fanasil, pyrimethamine drug combination

Phase 1

Antiviral Agents

Fluorodeoxyglucose F18

Deoxyglucose

Radiopharmaceuticals

Immunoglobulins

Immunoglobulin G

Vaccines

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Valproic Acid (Depakote[Registered Trademark]) to Treat Autoimmune Lymphoproliferative Syndrome (ALPS)	Completed	NCT00605657	Phase 1, Phase 2	Valproic Acid
2	Sirolimus for Autoimmune Disease of Blood Cells	Active, not recruiting	NCT00392951	Phase 1, Phase 2	sirolimus
3	Immune Disorder HSCT Protocol	Recruiting	NCT01821781	Phase 2	Transplant preparative regimen of alemtuzumab, fludarabine, thiotepa, and melphalan
4	Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT	Recruiting	NCT01962415	Phase 2	Hydroxyurea;Alemtuzumab;Fludarabine;Melphalan;Thiotepa
5	Pyrimethamine to Treat Autoimmune Lymphoproliferative Syndrome	Completed	NCT00065390	Phase 1	Pyrimethamine
6	Pyrimethamine and Sulfadoxine for Treatment of Autoimmune Lymphoproliferative Syndrome	Completed	NCT00013689	Phase 1	Fansidar (pyrimethamine and sulfadoxine)
7	Study of Autoimmune Lymphoproliferative Syndrome (ALPS)	Recruiting	NCT00001350
8	Fluorodeoxyglucose-Positron Emission Tomography (FDG-PET) to Evaluate Autoimmune Lymphoproliferative Syndrome (ALPS) and ALPS-associated Lymphoma	Completed	NCT00068146
9	Fluorodeoxyglucose Imaging Studies to Detect Lymphoma	Withdrawn	NCT01672918
10	Comparative Autoantibody and Immunologic Cell Marker Study	Enrolling by invitation	NCT02422875

Search NIH Clinical Center for Autoimmune Lymphoproliferative Syndrome

Cochrane evidence based reviews: autoimmune lymphoproliferative syndrome

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Genetic Tests for Autoimmune Lymphoproliferative Syndrome

Genetic tests related to Autoimmune Lymphoproliferative Syndrome:

#	Genetic test	Affiliating Genes
1	Autoimmune Lymphoproliferative Syndrome ³⁰	FAS FASLG
2	Autoimmune Lymphoproliferative Syndrome, Type 1b ³⁰	FASLG
3	Autoimmune Lymphoproliferative Syndrome, Type 1a ³⁰

Sources

Anatomical Context for Autoimmune Lymphoproliferative Syndrome

MalaCards organs/tissues related to Autoimmune Lymphoproliferative Syndrome:

⁴²

Lymph Node, Liver, Spleen, T Cells, Skin, Kidney, Eye

Sources

Publications for Autoimmune Lymphoproliferative Syndrome

Articles related to Autoimmune Lymphoproliferative Syndrome:

(show top 50) (show all 216)

#	Title	Authors	Year
1	Case report of a molar-root incisor malformation in a patient with an autoimmune lymphoproliferative syndrome. ( 30902077 )	Pavli? A...Nemec A	2019
2	The Autoimmune Lymphoproliferative Syndrome with Defective FAS or FAS-Ligand Functions. ( 29911256 )	Rieux-Laucat F....Neven B.	2018
3	Possible Association of Multicentric Castleman's Disease with Autoimmune Lymphoproliferative Syndrome. ( 29682404 )	Minemura H....Ikeda K.	2018
4	Low-dose sirolimus in two cousins with autoimmune lymphoproliferative syndrome-associated infection. ( 29480551 )	Nocerino A....Tommasini A.	2018
5	Gray platelet syndrome mimicking atypical autoimmune lymphoproliferative syndrome: the key is in the blood smear. ( 29903870 )	Steinberg-Shemer O....Tamary H.	2018
6	Synergistic defects of novo FAS and homozygous UNC13D leading to autoimmune lymphoproliferative syndrome-like disease: A 10-year-old Chinese boy case report. ( 29864493 )	Gu H....Wu R.	2018
7	Autoimmune Lymphoproliferative Syndrome-FAS Patients Have an Abnormal Regulatory T Cell (Treg) Phenotype but Display Normal Natural Treg-Suppressive Function on T Cell Proliferation. ( 29686686 )	Mazerolles F....Rieux-Laucat F.	2018
8	Deficiency of ADA2 mimicking autoimmune lymphoproliferative syndrome in the absence of livedo reticularis and vasculitis. ( 29271561 )	Alsultan A....Alfadhel M.	2018
9	EBV Negative Lymphoma and Autoimmune Lymphoproliferative Syndrome Like Phenotype Extend the Clinical Spectrum of Primary Immunodeficiency Caused by STK4 Deficiency. ( 30386345 )	Schipp C...Fischer U	2018
10	IgG4-related disease in autoimmune lymphoproliferative syndrome. ( 28478106 )	van de Ven A.A.J.M....Kollert F.	2017
11	TCF1 deficiency ameliorates autoimmune lymphoproliferative syndrome (ALPS)-like phenotypes of lpr/lpr mice. ( 28349581 )	Xu X....Huang Z.	2017
12	Lymphadenopathy driven by TCR-V<sub>I^</sub>8V<sub>I'</sub>1 T-cell expansion in FAS-related autoimmune lymphoproliferative syndrome. ( 29296752 )	Vavassori S....Pachlopnik Schmid J.	2017
13	Novel insights into FAS defects underlying autoimmune lymphoproliferative syndrome revealed by studies in consanguineous patients. ( 29345341 )	Ben-Mustapha I....Barbouche M.R.	2017
14	RASGRP1 mutation in autoimmune lymphoproliferative syndrome-like disease. ( 29155103 )	Mao H....Lau Y.L.	2017
15	STAT3 gain-of-function mutations associated with autoimmune lymphoproliferative syndrome like disease deregulate lymphocyte apoptosis and can be targeted by BH3 mimetic compounds. ( 28579554 )	Nabhani S....Fischer U.	2017
16	Frequency of a FAS ligand gene variant associated with inherited feline autoimmune lymphoproliferative syndrome in British shorthair cats in New Zealand. ( 28814155 )	Aberdein D....Lyons L.A.	2017
17	Pearls and pitfalls: Autoimmune lymphoproliferative syndrome and autoimmune lymphoproliferative syndrome-like disease. ( 28668112 )	Bartels A.K....Bay J.L.	2017
18	Autoimmune lymphoproliferative syndrome caused by homozygous FAS mutations with normal or residual protein expression. ( 28087326 )	Agrebi N....Ben-Mustapha I.	2017
19	A FAS-ligand variant associated with autoimmune lymphoproliferative syndrome in cats. ( 27770190 )	Aberdein D....Lyons L.A.	2017
20	Autoimmune Lymphoproliferative Syndrome Masquerading as Posttransplant Lymphoproliferative Disorder. ( 28991130 )	Jeffreys S.M....Crary S.E.	2017
21	Rare splicing defects of FAS underly severe recessive autoimmune lymphoproliferative syndrome. ( 28668589 )	Agrebi N....Barbouche M.R.	2017
22	Use of Sirolimus (Rapamycin) for Treatment of Cytopenias and Lymphoproliferation Linked to Autoimmune Lymphoproliferative Syndrome (ALPS). Two Case Reports. ( 28234735 )	Cayrol J....Garrido Colino C.	2017
23	Autoimmune lymphoproliferative syndrome: more than a FAScinating disease. ( 29123652 )	Bride K....Teachey D.	2017
24	Erratum to: A FAS-ligand variant associated with autoimmune lymphoproliferative syndrome in cats. ( 28101633 )	Aberdein D...99 Lives Consortium	2017
25	Autoimmune Lymphoproliferative Syndrome: A Rare Cause of Disappearing HDL Syndrome. ( 27579193 )	Sriram S....Kumar S.	2016
26	Optimal Management of Autoimmune Lymphoproliferative Syndrome in Children. ( 27139496 )	George L.A....Teachey D.T.	2016
27	CORRIGENDUM to Abnormal thymic maturation and lymphoproliferation in MRL-Faslpr/lpr mice can be partially reversed by synthetic oligonucleotides: implications for systemic lupus erythematosus and autoimmune lymphoproliferative syndrome. ( 27940897 )		2016
28	Evolution of disease activity and biomarkers on and off rapamycin in 28 patients with autoimmune lymphoproliferative syndrome. ( 27789675 )	Klemann C....Neven B.	2016
29	Ocular Inflammatory Disorders in Autoimmune Lymphoproliferative Syndrome (ALPS). ( 27229379 )	Ucar D....Sen H.N.	2016
30	Bone marrow findings in autoimmune lymphoproliferative syndrome with germline FAS mutation. ( 27846610 )	Xie Y....Maric I.	2016
31	Atypical presentation of autoimmune lymphoproliferative syndrome due to CASP10 mutation. ( 27378136 )	Tripodi S.I....Badolato R.	2016
32	Pulmonary Manifestations of the Autoimmune Lymphoproliferative Syndrome. A Retrospective Study of a Unique Patient Cohort. ( 27268092 )	Lau C.Y....Olivier K.N.	2016
33	Autoimmune lymphoproliferative syndrome due to somatic FAS mutation (ALPS-sFAS) combined with a germline caspase-10 (CASP10) variation. ( 26323380 )	MartA-nez-Feito A....Allende L.M.	2016
34	Haploinsufficiency of TNFAIP3 (A20) by germline mutation is involved in autoimmune lymphoproliferative syndrome. ( 27845235 )	Takagi M....Morio T.	2016
35	Disturbed B-lymphocyte selection in autoimmune lymphoproliferative syndrome. ( 26907631 )	Janda A....Rizzi M.	2016
36	Hyperactive mTOR pathway promotes lymphoproliferation and abnormal differentiation in autoimmune lymphoproliferative syndrome. ( 27099149 )	VAPlkl S....Mackensen A.	2016
37	Abnormal thymic maturation and lymphoproliferation in MRL-Faslpr/lpr mice can be partially reversed by synthetic oligonucleotides: implications for systemic lupus erythematosus and autoimmune lymphoproliferative syndrome. ( 27837196 )	Ashman R.F....Lenert P.S.	2016
38	Differential regulation of miR-146a/FAS and miR-21/FASLG axes in autoimmune lymphoproliferative syndrome due to FAS mutation (ALPS-FAS). ( 27060458 )	Marega L.F....Vilela M.M.	2016
39	Unexplained lymphadenopathies: autoimmune lymphoproliferative syndrome in an adult patient. ( 27979843 )	Leal-Seabra F....Oliveira A.	2016
40	Deregulation of Fas ligand expression as a novel cause of autoimmune lymphoproliferative syndrome-like disease. ( 26113417 )	Nabhani S....Fischer U.	2015
41	Decreased activation-induced cell death by EBV-transformed B cells from a patient with autoimmune lymphoproliferative syndrome caused by a novel FASLG mutation. ( 26334989 )	Ruiz-GarcA-a R....Allende L.M.	2015
42	Autoimmune lymphoproliferative syndrome-like disease in patients with LRBA mutation. ( 25931386 )	Revel-Vilk S....Stepensky P.	2015
43	Approaches to Managing Autoimmune Cytopenias in Novel Immunological Disorders with Genetic Underpinnings Like Autoimmune Lymphoproliferative Syndrome. ( 26258116 )	Rao V.K.	2015
44	Janus Kinase Inhibitor Tofacitinib Shows Potent Efficacy in a Mouse Model of Autoimmune Lymphoproliferative Syndrome (ALPS). ( 26453583 )	Yokoyama S....Perera L.P.	2015
45	FAS Haploinsufficiency Caused by Extracellular Missense Mutations Underlying Autoimmune Lymphoproliferative Syndrome. ( 26563159 )	de Bielke M.G....Danielian S.	2015
46	Autoimmune lymphoproliferative syndrome caused by a homozygous FasL mutation that disrupts FasL assembly. ( 26456038 )	Sobh A....Massaad M.J.	2015
47	Updated Understanding of Autoimmune Lymphoproliferative Syndrome (ALPS). ( 25663566 )	Li P....Li F.	2015
48	Adult onset autoimmune lymphoproliferative syndrome due to somatic FAS mutation. ( 25827517 )	GarcA-a GarcA-a G.M....Elduayen Izaguirre R.	2015
49	Autoimmune Lymphoproliferative Syndrome with Red Cell Aplasia. ( 25972287 )	Meena K.R....Tamaria K.C.	2015
50	Gray platelet syndrome can mimic autoimmune lymphoproliferative syndrome. ( 26472737 )	Rensing-Ehl A....Ehl S.	2015

Sources

Genes for Autoimmune Lymphoproliferative Syndrome

Genes related to Autoimmune Lymphoproliferative Syndrome (5 elite genes):

(show all 32)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	FASLG	Fas Ligand	Protein Coding	1805.03	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative germline mutation ⁶⁰ Causative variation ⁷⁶ Genetic Tests ³⁰ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Disorders Publications Variants (show sections)	8787672 20301287 10672498 (more) 19176318 8787672 17062728
2	FAS	Fas Cell Surface Death Receptor	Protein Coding	1759.08	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative germline mutation ⁶⁰ Causative variation ⁷⁶ Genetic Tests ³⁰ Susceptibility factor ⁵⁸ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Disorders Publications Variants (show sections)	7540117 9028321 9821419 (more) 9927496 10090885 10200300 10515860 15459302 4165068 8929361 4852259 10709732 7539157 20301287 15640690 10340403 17605793 9028321 12657942 9695976 17999750 18070632 11418480 15160902 16291365 12215906 15459303 9136951 10807785 12930371 17725802 11513545 20408337 8642249 15557123 9108407 9028957 17301392 16537120 12353035 9542527 9322534 18223337 16271851 10329802 10575548 9106310 8787672 19217201 16524705 10960521 10594139 10200300 14592838 10515860 10403307 10090885 17336828 15870181 15459302 15140060 12149230 11246866 10691859 9760572 9609991 12819469 11830507 11397650 11380411 9821419 9787134 10672498 7540117 18948840 17724145 17601274 11318598 9811346
3	CASP10	Caspase 10	Protein Coding	419.76	Causative germline mutation ⁶⁰ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	11717445 16446975 18818883 (more) 10412980 12353035 17999750 15640690 12010812
4	PRKCD	Protein Kinase C Delta	Protein Coding	392.7	Causative germline mutation (loss of function) ⁶⁰ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Summaries Variants (show sections)
5	RASGRP1	RAS Guanyl Releasing Protein 1	Protein Coding	353.52	Causative germline mutation ⁶⁰ DISEASES inferred ¹⁵
6	CASP8	Caspase 8	Protein Coding	41.6	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Disorders Publications (show sections)	18818883 18424336 15160902 (more) 15640690
7	CTLA4	Cytotoxic T-Lymphocyte Associated Protein 4	Protein Coding	33.45	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)
8	FADD	Fas Associated Via Death Domain	Protein Coding	32.92	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Disorders (show sections)	8955195
9	PRF1	Perforin 1	Protein Coding	31.7	DISEASES inferred ¹⁵ GeneCards inferred via : Publications Summaries (show sections)
10	NRAS	NRAS Proto-Oncogene, GTPase	Protein Coding	31.65	DISEASES inferred ¹⁵ GeneCards inferred via : Publications Summaries (show sections)
11	IL10	Interleukin 10	Protein Coding	27.97	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Publications (show sections)	12406097 19176318
12	LRBA	LPS Responsive Beige-Like Anchor Protein	Protein Coding	22.26	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
13	ACTA2	Actin Alpha 2, Smooth Muscle	Protein Coding	22.1	DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
14	UNC13D	Unc-13 Homolog D	Protein Coding	21.69	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
15	PTPRC	Protein Tyrosine Phosphatase Receptor Type C	Protein Coding	21.58	Novoseek inferred ⁵⁶ GeneCards inferred via : Publications (show sections)	12492582 11513545
16	IL2RA	Interleukin 2 Receptor Subunit Alpha	Protein Coding	21.47	Novoseek inferred ⁵⁶ GeneCards inferred via : Publications (show sections)	18330725 16226439
17	HRAS	HRas Proto-Oncogene, GTPase	Protein Coding	21.27	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
18	IL2	Interleukin 2	Protein Coding	20.79	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
19	TNFAIP3	TNF Alpha Induced Protein 3	Protein Coding	20.77	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
20	BCL2L11	BCL2 Like 11	Protein Coding	20.74	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
21	STAT3	Signal Transducer And Activator Of Transcription 3	Protein Coding	20.31	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
22	KRAS	KRAS Proto-Oncogene, GTPase	Protein Coding	10.09	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
23	TCN1	Transcobalamin 1	Protein Coding	10	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
24	MTOR	Mechanistic Target Of Rapamycin Kinase	Protein Coding	9.88	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
25	SPP1	Secreted Phosphoprotein 1	Protein Coding	7.99	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶	15705633 20378012
26	ALPI	Alkaline Phosphatase, Intestinal	Protein Coding	7.44	DISEASES inferred ¹⁵
27	ALPL	Alkaline Phosphatase, Biomineralization Associated	Protein Coding	7.36	DISEASES inferred ¹⁵
28	ALPP	Alkaline Phosphatase, Placental	Protein Coding	7.33	DISEASES inferred ¹⁵
29	ALPG	Alkaline Phosphatase, Germ Cell	Protein Coding	7.33	DISEASES inferred ¹⁵
30	ARFGAP1	ADP Ribosylation Factor GTPase Activating Protein 1	Protein Coding	7.01	DISEASES inferred ¹⁵
31	ARFGAP3	ADP Ribosylation Factor GTPase Activating Protein 3	Protein Coding	6.91	DISEASES inferred ¹⁵
32	HDAC9	Histone Deacetylase 9	Protein Coding	6.82	GeneCards inferred via : Publications (show sections)

Sources

Variations for Autoimmune Lymphoproliferative Syndrome

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

⁷⁶ (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

ClinVar genetic disease variations for Autoimmune Lymphoproliferative Syndrome:

⁶ (show top 50) (show all 386)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	FAS	NM_000043.5(FAS): c.369G> A (p.Gln123=)	single nucleotide variant	Benign/Likely benign	rs28362318	GRCh38	Chromosome 10, 89008923: 89008923
2	FAS	NM_000043.5(FAS): c.369G> A (p.Gln123=)	single nucleotide variant	Benign/Likely benign	rs28362318	GRCh37	Chromosome 10, 90768680: 90768680
3	FASLG	NM_000639.2(FASLG): c.472_555del84 (p.Met158_Glu185del)	deletion	Pathogenic	rs80358236	GRCh37	Chromosome 1, 172634782: 172634865
4	FASLG	NM_000639.2(FASLG): c.472_555del84 (p.Met158_Glu185del)	deletion	Pathogenic	rs80358236	GRCh38	Chromosome 1, 172665642: 172665725
5	FAS	NM_000043.5(FAS): c.232delG (p.Asp78Metfs)	deletion	Pathogenic	rs606231361	GRCh38	Chromosome 10, 89007735: 89007735
6	FAS	NM_000043.5(FAS): c.232delG (p.Asp78Metfs)	deletion	Pathogenic	rs606231361	GRCh37	Chromosome 10, 90767492: 90767492
7	FAS	NM_000043.5(FAS): c.334+2dup	duplication	Pathogenic	rs606231362	GRCh38	Chromosome 10, 89007839: 89007839
8	FAS	NM_000043.5(FAS): c.334+2dup	duplication	Pathogenic	rs606231362	GRCh37	Chromosome 10, 90767596: 90767596
9	FAS	NM_000043.5(FAS): c.721A> C (p.Thr241Pro)	single nucleotide variant	Pathogenic	rs121913076	GRCh37	Chromosome 10, 90773920: 90773920
10	FAS	NM_000043.5(FAS): c.721A> C (p.Thr241Pro)	single nucleotide variant	Pathogenic	rs121913076	GRCh38	Chromosome 10, 89014163: 89014163
11	FAS	NM_000043.5(FAS): c.569-2A> C	single nucleotide variant	Pathogenic	rs606231363	GRCh38	Chromosome 10, 89011997: 89011997
12	FAS	NM_000043.5(FAS): c.569-2A> C	single nucleotide variant	Pathogenic	rs606231363	GRCh37	Chromosome 10, 90771754: 90771754
13	FAS	NM_000043.5(FAS): c.817C> T (p.Gln273Ter)	single nucleotide variant	Pathogenic	rs121913077	GRCh37	Chromosome 10, 90774016: 90774016
14	FAS	NM_000043.5(FAS): c.817C> T (p.Gln273Ter)	single nucleotide variant	Pathogenic	rs121913077	GRCh38	Chromosome 10, 89014259: 89014259
15	FAS	NM_000043.5(FAS): c.361C> T (p.Arg121Trp)	single nucleotide variant	Pathogenic	rs121913078	GRCh37	Chromosome 10, 90768672: 90768672
16	FAS	NM_000043.5(FAS): c.361C> T (p.Arg121Trp)	single nucleotide variant	Pathogenic	rs121913078	GRCh38	Chromosome 10, 89008915: 89008915
17	FAS	NM_000043.5(FAS): c.695A> G (p.Tyr232Cys)	single nucleotide variant	Pathogenic	rs121913079	GRCh37	Chromosome 10, 90773894: 90773894
18	FAS	NM_000043.5(FAS): c.695A> G (p.Tyr232Cys)	single nucleotide variant	Pathogenic	rs121913079	GRCh38	Chromosome 10, 89014137: 89014137
19	FAS	NM_000043.5(FAS): c.779A> T (p.Asp260Val)	single nucleotide variant	Pathogenic	rs28929498	GRCh37	Chromosome 10, 90773978: 90773978
20	FAS	NM_000043.5(FAS): c.779A> T (p.Asp260Val)	single nucleotide variant	Pathogenic	rs28929498	GRCh38	Chromosome 10, 89014221: 89014221
21	FAS	NM_000043.5(FAS): c.749G> C (p.Arg250Pro)	single nucleotide variant	Likely pathogenic	rs121913080	GRCh37	Chromosome 10, 90773948: 90773948
22	FAS	NM_000043.5(FAS): c.749G> C (p.Arg250Pro)	single nucleotide variant	Likely pathogenic	rs121913080	GRCh38	Chromosome 10, 89014191: 89014191
23	FAS	NM_000043.5(FAS): c.809C> T (p.Thr270Ile)	single nucleotide variant	Pathogenic	rs121913081	GRCh37	Chromosome 10, 90774008: 90774008
24	FAS	NM_000043.5(FAS): c.809C> T (p.Thr270Ile)	single nucleotide variant	Pathogenic	rs121913081	GRCh38	Chromosome 10, 89014251: 89014251
25	FAS	NM_000043.5(FAS): c.651+2T> A	single nucleotide variant	Pathogenic	rs267607122	GRCh37	Chromosome 10, 90771840: 90771840
26	FAS	NM_000043.5(FAS): c.651+2T> A	single nucleotide variant	Pathogenic	rs267607122	GRCh38	Chromosome 10, 89012083: 89012083
27	FAS	NM_000043.5(FAS): c.73G> A (p.Ala25Thr)	single nucleotide variant	Pathogenic	rs606231364	GRCh38	Chromosome 10, 89003071: 89003071
28	FAS	NM_000043.5(FAS): c.73G> A (p.Ala25Thr)	single nucleotide variant	Pathogenic	rs606231364	GRCh37	Chromosome 10, 90762828: 90762828
29	FAS	NM_000043.4(FAS): c.968_987dup (p.Glu330Lysfs)	duplication	Pathogenic	rs606231365	GRCh38	Chromosome 10, 89014410: 89014429
30	FAS	NM_000043.4(FAS): c.968_987dup (p.Glu330Lysfs)	duplication	Pathogenic	rs606231365	GRCh37	Chromosome 10, 90774167: 90774186
31	FAS	NM_000043.5(FAS): c.740G> C (p.Gly247Ala)	single nucleotide variant	Pathogenic	rs121913085	GRCh37	Chromosome 10, 90773939: 90773939
32	FAS	NM_000043.5(FAS): c.740G> C (p.Gly247Ala)	single nucleotide variant	Pathogenic	rs121913085	GRCh38	Chromosome 10, 89014182: 89014182
33	FAS	NM_000043.5(FAS): c.651+2T> C	single nucleotide variant	Pathogenic	rs267607122	GRCh37	Chromosome 10, 90771840: 90771840
34	FAS	NM_000043.5(FAS): c.651+2T> C	single nucleotide variant	Pathogenic	rs267607122	GRCh38	Chromosome 10, 89012083: 89012083
35	FAS	NM_000043.5(FAS): c.692_693insT (p.Lys231Asnfs)	insertion	Pathogenic	rs606231366	GRCh38	Chromosome 10, 89014134: 89014135
36	FAS	NM_000043.5(FAS): c.692_693insT (p.Lys231Asnfs)	insertion	Pathogenic	rs606231366	GRCh37	Chromosome 10, 90773891: 90773892
37	FAS	NM_000043.5(FAS): c.778G> T (p.Asp260Tyr)	single nucleotide variant	Pathogenic	rs121913086	GRCh37	Chromosome 10, 90773977: 90773977
38	FAS	NM_000043.5(FAS): c.778G> T (p.Asp260Tyr)	single nucleotide variant	Pathogenic	rs121913086	GRCh38	Chromosome 10, 89014220: 89014220
39	FASLG	NM_000639.2(FASLG): c.466A> G (p.Arg156Gly)	single nucleotide variant	Uncertain significance	rs80358238	GRCh37	Chromosome 1, 172634776: 172634776
40	FASLG	NM_000639.2(FASLG): c.466A> G (p.Arg156Gly)	single nucleotide variant	Uncertain significance	rs80358238	GRCh38	Chromosome 1, 172665636: 172665636
41	CASP10	NM_032977.3(CASP10): c.1228G> A (p.Val410Ile)	single nucleotide variant	Benign/Likely benign	rs13010627	GRCh37	Chromosome 2, 202074098: 202074098
42	CASP10	NM_032977.3(CASP10): c.1228G> A (p.Val410Ile)	single nucleotide variant	Benign/Likely benign	rs13010627	GRCh38	Chromosome 2, 201209375: 201209375
43	CASP10	NM_032977.3(CASP10): c.1337A> G (p.Tyr446Cys)	single nucleotide variant	Benign	rs17860405	GRCh37	Chromosome 2, 202074207: 202074207
44	CASP10	NM_032977.3(CASP10): c.1337A> G (p.Tyr446Cys)	single nucleotide variant	Benign	rs17860405	GRCh38	Chromosome 2, 201209484: 201209484
45	FAS	NM_000043.5(FAS): c.46G> A (p.Ala16Thr)	single nucleotide variant	Benign/Likely benign	rs3218619	GRCh37	Chromosome 10, 90762801: 90762801
46	FAS	NM_000043.5(FAS): c.46G> A (p.Ala16Thr)	single nucleotide variant	Benign/Likely benign	rs3218619	GRCh38	Chromosome 10, 89003044: 89003044
47	FAS	NM_000043.5(FAS): c.365C> T (p.Thr122Ile)	single nucleotide variant	Benign/Likely benign	rs3218614	GRCh37	Chromosome 10, 90768676: 90768676
48	FAS	NM_000043.5(FAS): c.365C> T (p.Thr122Ile)	single nucleotide variant	Benign/Likely benign	rs3218614	GRCh38	Chromosome 10, 89008919: 89008919
49	FAS	NM_000043.5(FAS): c.580G> A (p.Glu194Lys)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs56006128	GRCh37	Chromosome 10, 90771767: 90771767
50	FAS	NM_000043.5(FAS): c.580G> A (p.Glu194Lys)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs56006128	GRCh38	Chromosome 10, 89012010: 89012010

Sources

Expression for Autoimmune Lymphoproliferative Syndrome

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

Sources

Pathways for Autoimmune Lymphoproliferative Syndrome

Pathways related to Autoimmune Lymphoproliferative Syndrome according to KEGG:

³⁸

#	Name	Kegg Source Accession
1	Apoptosis	hsa04210

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

(show top 50) (show all 86)

#	Super pathways	Score	Top Affiliating Genes
1	Signaling by GPCR ⁶⁷ Show member pathways GPCR downstream signaling ⁶⁷ Signal Transduction ⁶⁷	14.24	BCL2L11 CASP10 CASP8 FADD FAS FASLG
2	Innate Immune System ⁶⁷ Show member pathways Immune System ⁶⁷ Neutrophil degranulation ⁶⁷	14.05	CASP10 CASP8 CTLA4 FADD FASLG HRAS
3	Apoptotic Pathways in Synovial Fibroblasts ⁶⁵ Show member pathways Actin-Based Motility by Rho Family GTPases ⁶⁵ Cellular Apoptosis Pathway ⁶⁵ DHA Signaling ⁶⁵ eIF2 Pathway ⁶⁵ ERK5 Signaling ⁶⁵ Glioma Invasiveness ⁶⁵ Mitochondrial Apoptosis ⁶⁵ Nuclear Receptor Activation by Vitamin-A ⁶⁵ p53 Mediated Apoptosis ⁶⁵ PPAR Pathway ⁶⁵ Rac1 Pathway ⁶⁵ Rap1 Pathway ⁶⁵ Telomerase Components in Cell Signaling ⁶⁵	13.92	ACTA2 BCL2L11 CASP10 CASP8 FADD FAS
4	ERK Signaling ⁶⁵ Show member pathways ILK Signaling ⁶⁵ MAPK Signaling ⁶⁵ Molecular Mechanisms of Cancer ⁶⁵ Rho Family GTPases ⁶⁵	13.87	ACTA2 BCL2L11 CASP10 CASP8 FADD FAS
5	PEDF Induced Signaling ⁶⁵ Show member pathways all-trans-Retinoic Acid Signaling in Brain ⁶⁵ Cytokine-cytokine receptor interaction ³⁸ Endothelin-1 Signaling Pathway ⁶⁵ Glucocorticoid Receptor Signaling ⁶⁵ IL-6 Pathway ⁶⁵ MIF Mediated Glucocorticoid Regulation ⁶⁵ MIF Regulation of Innate Immune Cells ⁶⁵ NFAT Signaling and Lymphocyte Interactions ⁶⁵ PGC1Alpha Pathway ⁶⁵ RAR-Gamma-RXR-Alpha Degradation ⁶⁵ STAT3 Pathway ⁶⁵	13.75	CASP10 CASP8 FAS FASLG HRAS IL10
6	Akt Signaling ⁶⁵ Show member pathways p38 Signaling ⁶⁵ Tec Kinases Signaling ⁶⁵	13.47	ACTA2 FADD FAS FASLG HRAS IL10
7	Cytokine Signaling in Immune system ⁶⁷ Show member pathways Signaling by Interleukins ⁶⁷	13.43	FASLG HRAS IL10 IL2 IL2RA NRAS
8	Toll-like Receptor Signaling Pathway ³⁸ ¹ Show member pathways Chagas disease (American trypanosomiasis) ³⁸ Epstein-Barr virus infection ³⁸ Hepatitis B ³⁸ Hepatitis C ³⁸ NOD-like Receptor Signaling Pathways ⁶⁶ Regulation of toll-like receptor signaling pathway ¹	13.26	CASP8 FADD FAS FASLG IL10 IL2
9	PAK Pathway ⁶⁵ Show member pathways Antioxidant Action of Vitamin-C ⁶⁵ Epithelial Adherens Junctions ⁶⁵	13.21	ACTA2 CASP10 CASP8 FAS FASLG HRAS
10	Phospholipase-C Pathway ⁶⁵ Show member pathways PTEN Pathway ⁶⁵	13.12	ACTA2 HRAS IL2 IL2RA NRAS PRKCD
11	Human cytomegalovirus infection ³⁸ Show member pathways Human immunodeficiency virus 1 infection ³⁸ Kaposi sarcoma-associated herpesvirus infection ³⁸	13.04	CASP10 CASP8 FADD FAS FASLG HRAS
12	PI3K-Akt signaling pathway ³⁸ Show member pathways Human papillomavirus infection ³⁸	13.04	BCL2L11 CASP8 FADD FAS FASLG HRAS
13	TCR Signaling (Qiagen) ⁶⁵ Show member pathways Fc-EpsilonRI Pathway ⁶⁵ PDGF Pathway ⁶⁵ PKC-Theta Pathway ⁶⁵ TCR Signaling ⁶⁵	13.01	ACTA2 CTLA4 HRAS NRAS PRKCD PTPRC
14	Development Angiotensin activation of ERK ²³ Show member pathways Cell adhesion Integrin inside-out signaling ²³ Development ACM2 and ACM4 activation of ERK ²³ Development Angiotensin signaling via PYK2 ²³ Development EDNRB signaling ²³ Development EPO-induced MAPK pathway ²³ Development G-Proteins mediated regulation MARK-ERK signaling ²³ Signal transduction IP3 signaling ²³	13	CASP10 CASP8 FADD FAS FASLG HRAS
15	CCR5 Pathway in Macrophages ⁶⁵ Show member pathways Androgen Signaling ⁶⁵ Chemokine Signaling ⁶⁵ Chemokine signaling pathway ³⁸	12.92	FAS FASLG HRAS NRAS PRKCD
16	MAPK signaling pathway ¹ ³⁸	12.85	CASP8 FAS FASLG HRAS NRAS PRKCD
17	Apoptosis Modulation and Signaling ¹ Show member pathways Apoptosis ³⁸ Apoptosis ¹ Apoptosis and survival Apoptotic TNF-family pathways ²³ Apoptosis Signaling Pathways ⁶⁶ Death Receptor Signaling ⁶⁸	12.79	BCL2L11 CASP10 CASP8 FADD FAS FASLG
18	Chks in Checkpoint Regulation ⁶⁵ Show member pathways DNA Repair Mechanisms ⁶⁵ Estrogen-mediated S-Phase Entry ⁶⁵ G2-M Phase Transition ⁶⁵ Parkinson's Disease Pathway ⁶⁵ SREBP Proteolysis ⁶⁵	12.78	BCL2L11 CASP10 CASP8 FADD FAS FASLG
19	TNFR1 Pathway ⁶⁵ Show member pathways Apoptosis and survival TNFR1 signaling pathway ²³ Apoptosis through Death Receptors ⁶⁵ Apoptotic Pathways Triggered By HIV1 ⁶⁵ DR3 Signaling ⁶⁵ Fas Signaling ⁶⁵ GITR Pathway ⁶⁵ HIV-1 Nef- Negative effector of Fas and TNF-alpha ¹ Stimulation of the cell death response by PAK-2p34 ⁶⁷ TNF alpha Signaling Pathway ¹ TNF related weak inducer of apoptosis (TWEAK) Signaling Pathway ¹ TNF Signaling ⁶⁵ TRAIL Pathway ⁶⁵ TWEAK Pathway ⁶⁵	12.78	ACTA2 CASP10 CASP8 FADD FAS FASLG
20	Development HGF signaling pathway ²³ Show member pathways Apoptosis and survival Anti-apoptotic action of membrane-bound ESR1 ²³ Apoptosis and survival NGF signaling pathway ²³ Apoptosis and survival Role of CDK5 in neuronal death and survival ²³ Development Neurotrophin family signaling ²³ MET activates PTPN11 ⁶⁷ MET activates STAT3 ⁶⁷ Neurotrophin signaling pathway ³⁸ Signaling events mediated by Hepatocyte Growth Factor Receptor (c-Met) ¹ Signaling of Hepatocyte Growth Factor Receptor ¹	12.77	FAS FASLG HRAS NRAS PRKCD
21	Development Endothelin-1/EDNRA signaling ²³ Show member pathways Cytoskeleton remodeling FAK signaling ²³ Development Endothelin-1/EDNRA transactivation of EGFR ²³ GnRH signaling pathway ³⁸ Inflammatory mediator regulation of TRP channels ³⁸	12.73	CASP8 FADD HRAS NRAS PRKCD
22	Immune response NFAT in immune response ²³ Show member pathways Immune response CD28 signaling ²³ Immune response ICOS pathway in T-helper cell ²³ Immune response T cell receptor signaling pathway ²³	12.72	HRAS IL10 IL2 IL2RA PTPRC RASGRP1
23	4-1BB Pathway ⁶⁵ Show member pathways CD27 Pathway ⁶⁵ CD40 Signaling ⁶⁵ CMV and MAPK Pathways ⁶⁵ NF-KappaB Activation by EBV ⁶⁵ NF-kappaB Activation by Viruses ⁶⁵ PKR Pathway ⁶⁵ SUMO Pathway ⁶⁵ TNFR2 Pathway ⁶⁵	12.71	BCL2L11 CASP8 FAS FASLG HRAS NRAS
24	Influenza A ³⁸ Show member pathways Measles ³⁸	12.67	CASP8 FADD FAS FASLG IL2 IL2RA
25	TRAF Pathway ⁶⁵ Show member pathways 14-3-3 Induced Apoptosis ⁶⁵ TNF Superfamily Pathway ⁶⁵ Toll-Like Receptors Pathway ⁶⁵	12.66	CASP10 CASP8 FADD FAS FASLG HRAS
26	Immune response Role of DAP12 receptors in NK cells ²³ Show member pathways Immune response CD16 signaling in NK cells ²³ Natural killer cell mediated cytotoxicity ³⁸	12.62	FAS FASLG HRAS IL2 NRAS PRF1
27	DREAM Repression and Dynorphin Expression ⁶⁵ Show member pathways BMP Pathway ⁶⁵ Caspase Cascade ⁶⁵ Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium Channels ⁶⁷ nNOS Signaling in Skeletal Muscle ⁶⁵ TOB in Osteoblast Signaling ⁶⁵	12.59	CASP10 CASP8 FADD FAS FASLG PRF1
28	Pathways in cancer ³⁸	12.58	BCL2L11 CASP8 FADD FAS FASLG HRAS
29	NF-kappaB Signaling ⁴	12.57	CTLA4 FAS FASLG IL10 IL2 IL2RA
30	Apoptosis Pathway ⁷³ Show member pathways Akt Pathway ⁷³ NF-kappaB Pathway ⁷³	12.5	CASP10 CASP8 HRAS IL2 IL2RA NRAS
31	JAK-STAT signaling pathway (KEGG) ⁶⁶ Show member pathways Interleukin-19, 20, 22, 24 ⁶⁷ JAK-STAT signaling pathway ³⁸	12.48	HRAS IL10 IL2 IL2RA NRAS PRKCD
32	CLEC7A (Dectin-1) signaling ⁶⁷ Show member pathways Alternative NF-kappaB pathway ¹ CLEC7A/inflammasome pathway ⁶⁷ C-type lectin receptors (CLRs) ⁶⁷	12.47	CASP8 HRAS NRAS PRKCD
33	ICos-ICosL Pathway in T-Helper Cell ⁶⁵ Show member pathways Calcium Mediated T-Cell Apoptosis ⁶⁵ CD28 Signaling in T-Helper Cell ⁶⁵	12.47	ACTA2 CTLA4 IL2 IL2RA PRKCD PTPRC
34	RhoGDI Pathway ⁶⁵ Show member pathways Fc-GammaR-Mediated Phagocytosis in Macrophages ⁶⁵	12.44	ACTA2 CASP10 HRAS PRF1
35	B cell receptor signaling pathway (KEGG) ³⁸ Show member pathways B Cell Receptor Signaling Pathway ¹ BCR signaling pathway ¹	12.43	HRAS NRAS PRKCD PTPRC
36	TNF signaling (REACTOME) ⁶⁷ Show member pathways Death Receptor Signalling ⁶⁷ Regulation of TNFR1 signaling ⁶⁷ TNF receptor signaling pathway ¹ TNFR1-induced NFkappaB signaling pathway ⁶⁷ TNFR1-induced proapoptotic signaling ⁶⁷ TNFR1-mediated ceramide production ⁶⁷	12.41	CASP10 CASP8 FADD FAS FASLG TNFAIP3
37	Human T-cell leukemia virus 1 infection ³⁸	12.4	HRAS IL2 IL2RA NRAS
38	B Cell Receptor Signaling Pathway (sino) ⁶⁸ Show member pathways B Cell Receptor Signaling Pathway ⁶⁸	12.38	HRAS NRAS PRKCD PTPRC
39	Proteoglycans in cancer ³⁸	12.35	FAS FASLG HRAS NRAS
40	Apoptosis and Autophagy ⁴	12.34	BCL2L11 CASP8 FADD FAS FASLG TNFAIP3
41	p53 Signaling ⁶⁵ Show member pathways p53 Pathway ⁶⁸	12.31	CASP10 CASP8 FAS FASLG
42	Necroptosis ³⁸ Show member pathways Nanoparticle triggered regulated necrosis ¹	12.31	CASP8 FADD FAS FASLG TNFAIP3
43	Tuberculosis ³⁸	12.29	CASP10 CASP8 FADD IL10
44	MAPK Signaling: Mitogen Stimulation Pathway ⁶⁶ Show member pathways Akt Signaling Pathway ⁶⁶	12.29	BCL2L11 HRAS IL2RA NRAS RASGRP1
45	C-type lectin receptor signaling pathway ³⁸ Show member pathways Pathogen or Damage-activated C-Type Lectin Receptor Signaling Pathways ⁶⁶	12.29	CASP8 HRAS IL10 IL2 NRAS PRKCD
46	Apoptosis and survival Caspase cascade ²³ Show member pathways Apoptosis and survival FAS signaling cascades ²³ Breakdown of the nuclear lamina ⁶⁷ Caspase cascade in apoptosis ¹ Fas Ligand (FasL) pathway and Stress induction of Heat Shock Proteins (HSP) regulation ¹ FasL/ CD95L signaling ⁶⁷ Influenza A virus infection ¹	12.28	BCL2L11 CASP10 CASP8 FADD FAS FASLG
47	Immune response Function of MEF2 in T lymphocytes ²³ Show member pathways Development Role of HDAC and calcium/calmodulin-dependent kinase (CaMK) in control of skeletal myogenesis ²³	12.22	CASP8 FADD IL2 PRKCD TNFAIP3
48	AKT Signaling Pathway ⁶⁸	12.19	BCL2L11 HRAS IL2RA NRAS
49	FoxO signaling pathway ³⁸ Show member pathways PLK2 and PLK4 events ¹ Polo-like kinase signaling events in the cell cycle ¹	12.19	BCL2L11 FASLG HRAS IL10 NRAS
50	Immune response IFN gamma signaling pathway ²³ Show member pathways IFN-gamma pathway ¹	12.17	HRAS IL10 IL2 IL2RA NRAS PRKCD

Sources

GO Terms for Autoimmune Lymphoproliferative Syndrome

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

#	Name	GO ID	Score	Top Affiliating Genes
1	membrane raft	GO:0045121	9.65	CASP8 FADD FAS FASLG PTPRC
2	cell body	GO:0044297	9.5	ACTA2 CASP8 FADD
3	death-inducing signaling complex	GO:0031264	9.33	CASP8 FADD FAS
4	ripoptosome	GO:0097342	9.13	CASP10 CASP8 FADD
5	CD95 death-inducing signaling complex	GO:0031265	8.92	CASP10 CASP8 FADD FAS

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

(show all 45)

#	Name	GO ID	Score	Top Affiliating Genes
1	regulation of apoptotic process	GO:0042981	9.95	BCL2L11 CASP10 CASP8 FADD FAS
2	defense response to virus	GO:0051607	9.94	FADD PRF1 PTPRC UNC13D
3	positive regulation of protein phosphorylation	GO:0001934	9.94	FAS HRAS IL2 RASGRP1
4	positive regulation of I-kappaB kinase/NF-kappaB signaling	GO:0043123	9.93	CASP10 CASP8 FADD FASLG
5	cell surface receptor signaling pathway	GO:0007166	9.93	CASP10 CASP8 FADD HRAS IL2RA PTPRC
6	MAPK cascade	GO:0000165	9.91	HRAS IL2 IL2RA NRAS RASGRP1
7	cellular response to mechanical stimulus	GO:0071260	9.85	CASP8 FADD FAS
8	Ras protein signal transduction	GO:0007265	9.84	HRAS NRAS RASGRP1
9	stimulatory C-type lectin receptor signaling pathway	GO:0002223	9.83	HRAS NRAS PRKCD
10	positive regulation of T cell proliferation	GO:0042102	9.83	IL2 IL2RA PTPRC
11	positive regulation of tumor necrosis factor production	GO:0032760	9.8	FADD PTPRC RASGRP1
12	negative regulation of inflammatory response	GO:0050728	9.8	IL10 IL2 IL2RA PRKCD TNFAIP3
13	positive regulation of interferon-gamma production	GO:0032729	9.78	FADD HRAS IL2
14	negative regulation of T cell proliferation	GO:0042130	9.77	CTLA4 IL10 IL2RA
15	B cell proliferation	GO:0042100	9.76	IL10 PRKCD PTPRC
16	extrinsic apoptotic signaling pathway in absence of ligand	GO:0097192	9.75	BCL2L11 FADD IL2
17	extrinsic apoptotic signaling pathway via death domain receptors	GO:0008625	9.74	CASP8 FADD FASLG
18	extrinsic apoptotic signaling pathway	GO:0097191	9.73	CASP8 FADD FAS FASLG
19	activation of cysteine-type endopeptidase activity involved in apoptotic process	GO:0006919	9.72	CASP10 CASP8 FADD FAS FASLG
20	T cell homeostasis	GO:0043029	9.71	BCL2L11 FADD IL2RA
21	positive regulation of activated T cell proliferation	GO:0042104	9.7	FADD IL2 IL2RA
22	activation of cysteine-type endopeptidase activity	GO:0097202	9.69	CASP8 FADD
23	negative regulation of immune response	GO:0050777	9.69	CTLA4 IL2RA
24	positive regulation of macrophage differentiation	GO:0045651	9.69	CASP8 FADD
25	inflammatory response to antigenic stimulus	GO:0002437	9.68	IL2RA RASGRP1
26	negative regulation of peptidyl-tyrosine phosphorylation	GO:0050732	9.68	PRKCD PTPRC
27	response to molecule of bacterial origin	GO:0002237	9.68	IL10 TNFAIP3
28	interleukin-2-mediated signaling pathway	GO:0038110	9.68	IL2 IL2RA
29	toll-like receptor 3 signaling pathway	GO:0034138	9.67	CASP8 FADD
30	positive regulation of isotype switching to IgG isotypes	GO:0048304	9.67	IL2 PTPRC
31	positive regulation of T cell differentiation	GO:0045582	9.67	IL2 IL2RA PTPRC
32	death-inducing signaling complex assembly	GO:0071550	9.66	CASP8 FADD
33	regulation of necroptotic process	GO:0060544	9.65	CASP8 FADD
34	regulation of regulatory T cell differentiation	GO:0045589	9.65	CTLA4 IL2 IL2RA
35	apoptotic signaling pathway	GO:0097190	9.65	CASP10 CASP8 FADD FAS FASLG
36	negative regulation of lymphocyte proliferation	GO:0050672	9.63	IL2 IL2RA
37	TRAIL-activated apoptotic signaling pathway	GO:0036462	9.62	CASP8 FADD
38	regulation of T cell homeostatic proliferation	GO:0046013	9.59	IL2 IL2RA
39	necroptotic signaling pathway	GO:0097527	9.54	FADD FAS FASLG
40	regulation of extrinsic apoptotic signaling pathway via death domain receptors	GO:1902041	9.46	CASP8 FADD FAS FASLG
41	apoptotic process	GO:0006915	9.36	BCL2L11 CASP10 CASP8 FADD FAS FASLG
42	negative regulation of extrinsic apoptotic signaling pathway via death domain receptors	GO:1902042	9.35	CASP8 FADD FAS FASLG TNFAIP3
43	immune response	GO:0006955	10.03	CTLA4 FAS FASLG IL10 IL2 IL2RA
44	positive regulation of apoptotic process	GO:0043065	10.01	BCL2L11 CTLA4 FADD FAS FASLG
45	cytokine-mediated signaling pathway	GO:0019221	10	FASLG IL10 IL2 IL2RA

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

#	Name	GO ID	Score	Top Affiliating Genes
1	kinase binding	GO:0019900	9.54	FAS PRKCD TNFAIP3
2	cysteine-type endopeptidase activity involved in apoptotic process	GO:0097153	9.4	CASP10 CASP8
3	tumor necrosis factor receptor binding	GO:0005164	9.33	CASP8 FADD FASLG
4	cysteine-type endopeptidase activity involved in apoptotic signaling pathway	GO:0097199	9.32	CASP10 CASP8
5	death receptor binding	GO:0005123	9.13	CASP8 FADD FASLG
6	death effector domain binding	GO:0035877	8.8	CASP10 CASP8 FADD
7	protein binding	GO:0005515	10.19	BCL2L11 CASP10 CASP8 CTLA4 FADD FAS

Sources

Sources for Autoimmune Lymphoproliferative Syndrome

¹ BioSystems

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⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Autoimmune Lymphoproliferative Syndrome (ALPS1A)

Aliases & Classifications for Autoimmune Lymphoproliferative Syndrome

MalaCards integrated aliases for Autoimmune Lymphoproliferative Syndrome:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

GeneReviews:

Classifications:

External Ids:

Summaries for Autoimmune Lymphoproliferative Syndrome

Related Diseases for Autoimmune Lymphoproliferative Syndrome

Diseases in the Lymphoproliferative Syndrome family:

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

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

Symptoms & Phenotypes for Autoimmune Lymphoproliferative Syndrome

Human phenotypes related to Autoimmune Lymphoproliferative Syndrome:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

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

MGI Mouse Phenotypes related to Autoimmune Lymphoproliferative Syndrome:

Drugs & Therapeutics for Autoimmune Lymphoproliferative Syndrome

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

Interventional clinical trials:

Cochrane evidence based reviews: autoimmune lymphoproliferative syndrome

Genetic Tests for Autoimmune Lymphoproliferative Syndrome

Genetic tests related to Autoimmune Lymphoproliferative Syndrome:

Anatomical Context for Autoimmune Lymphoproliferative Syndrome

MalaCards organs/tissues related to Autoimmune Lymphoproliferative Syndrome:

Publications for Autoimmune Lymphoproliferative Syndrome

Articles related to Autoimmune Lymphoproliferative Syndrome:

Genes for Autoimmune Lymphoproliferative Syndrome

Genes related to Autoimmune Lymphoproliferative Syndrome (5 elite genes):

Variations for Autoimmune Lymphoproliferative Syndrome

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

ClinVar genetic disease variations for Autoimmune Lymphoproliferative Syndrome:

Expression for Autoimmune Lymphoproliferative Syndrome

Pathways for Autoimmune Lymphoproliferative Syndrome

Pathways related to Autoimmune Lymphoproliferative Syndrome according to KEGG:

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

GO Terms for Autoimmune Lymphoproliferative Syndrome

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

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

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

Sources for Autoimmune Lymphoproliferative Syndrome