ALPS
MCID: ATM029
MIFTS: 47

Autoimmune Lymphoproliferative Syndrome, Type Ib (ALPS) malady

Genetic diseases, Blood diseases, Cancer diseases, Rare diseases, Immune diseases, Neuronal diseases categories
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Summaries for Autoimmune Lymphoproliferative Syndrome, Type Ib

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MalaCards based summary: Autoimmune Lymphoproliferative Syndrome, Type Ib, also known as autoimmune lymphoproliferative syndrome, is related to autoimmune lymphoproliferative syndrome and dianzani autoimmune lymphoproliferative syndrome, and has symptoms including An important gene associated with Autoimmune Lymphoproliferative Syndrome, Type Ib is FASLG (Fas ligand (TNF superfamily, member 6)), and among its related pathways are FoxO signaling pathway and Wnt Signaling Pathway. The compounds (glc)4 and atpo have been mentioned in the context of this disorder. Related mouse phenotypes are tumorigenesis and renal/urinary system.

Descriptions from OMIM:46 601859,603909,614470

Aliases & Classifications for Autoimmune Lymphoproliferative Syndrome, Type Ib

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Sources:
48Orphanet, 62UMLS, 20GeneTests, 22GTR, 46OMIM, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Autoimmune Lymphoproliferative Syndrome, Type Ib, Aliases & Descriptions:

Name: Autoimmune Lymphoproliferative Syndrome, Type Ib 20 22 46
Autoimmune Lymphoproliferative Syndrome 48 62
Alps 48 62
 
Canale-Smith Syndrome 48
Canale Smith Syndrome 62
Fas Deficiency 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
autoimmune lymphoproliferative syndrome:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Variable


External Ids:

MESH via Orphanet35 D056735
ICD10 via Orphanet26 D72.8
UMLS via Orphanet63 C1328840

Related Diseases for Autoimmune Lymphoproliferative Syndrome, Type Ib

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Diseases in the Autoimmune Lymphoproliferative Syndrome family:

Fas-Related Autoimmune Lymphoproliferative Syndrome Faslg-Related Autoimmune Lymphoproliferative Syndrome
Casp10-Related Autoimmune Lymphoproliferative Syndrome Autoimmune Lymphoproliferative Syndrome, Type Ia
Autoimmune Lymphoproliferative Syndrome, Type 0 autoimmune lymphoproliferative syndrome, type ib
Autoimmune Lymphoproliferative Syndrome, Type Ii Autoimmune Lymphoproliferative Syndrome Type Iv
Lymphoproliferative Syndrome 1 Lymphoproliferative Syndrome 2

Diseases related to Autoimmune Lymphoproliferative Syndrome, Type Ib via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 76)
idRelated DiseaseScoreTop Affiliating Genes
1autoimmune lymphoproliferative syndrome31.6CASP10, FASLG, FAS
2dianzani autoimmune lymphoproliferative syndrome10.6
3autoimmune lymphoproliferative syndrome, type ii10.6
4autoimmune lymphoproliferative syndrome, type ia10.5
5caspase-8 deficiency10.4
6common variable immunodeficiency10.4
7autoimmune lymphoproliferative syndrome type iv10.4
8ras-associated autoimmune leukoproliferative disease10.4
9evans' syndrome10.3
10eosinophilia10.3
11purpura10.3
12splenomegaly10.3
13fas-related autoimmune lymphoproliferative syndrome10.3
14faslg-related autoimmune lymphoproliferative syndrome10.3
15casp10-related autoimmune lymphoproliferative syndrome10.3
16autoimmune lymphoproliferative syndrome, type 010.3
17arthritis10.1
18glomerulonephritis10.1
19hemophagocytic lymphohistiocytosis10.1
20hodgkin's lymphoma10.1
21malaria10.1
22neuromyelitis optica10.1
23non-hodgkin lymphoma10.1
24thrombocytopenia10.1
25polyarteritis nodosa10.1
26autoimmune thrombocytopenic purpura10.1
27astrocytoma10.1
28histiocytosis10.1
29pancreatitis10.1
30sarcoidosis10.1
31sarcoma10.1
32uveitis10.1
33autoimmune pancreatitis10.1
34chronic active epstein-barr virus infection10.1
35linear iga disease10.1
36rosai-dorfman disease10.1
37cytomegalovirus infection10.1
38nephritis10.1
39histiocytic sarcoma10.1
40hemolytic anemia10.1
41vogt-koyanagi-harada disease10.1FAS, FASLG
42toxic epidermal necrolysis10.1FAS, FASLG
43silicosis10.1FASLG, FAS
44lymphomatoid papulosis10.1FASLG, FAS
45stevens-johnson syndrome10.1FASLG, FAS
46aplastic anemia10.1FASLG, FAS
47lymphopenia10.1FAS, FASLG
48viral hepatitis10.1FASLG, FAS
49autoimmune thyroiditis10.1FAS, FASLG
50graft versus host disease10.1FASLG, FAS

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



Diseases related to autoimmune lymphoproliferative syndrome, type ib

Symptoms for Autoimmune Lymphoproliferative Syndrome, Type Ib

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Symptoms by clinical synopsis from OMIM:

601859

Clinical features from OMIM:

601859,603909,614470

HPO human phenotypes related to Autoimmune Lymphoproliferative Syndrome, Type Ib:

(show all 27)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 urticaria HP:0001025
3 splenomegaly HP:0001744
4 eosinophilia HP:0001880
5 autoimmune hemolytic anemia HP:0001890
6 iron deficiency anemia HP:0001891
7 autoimmune neutropenia HP:0001904
8 autoimmune thrombocytopenia HP:0001973
9 hepatomegaly HP:0002240
10 vasculitis HP:0002633
11 follicular hyperplasia HP:0002729
12 chronic noninfectious lymphadenopathy HP:0002730
13 defective lymphocyte apoptosis HP:0002731
14 increased number of peripheral cd3+ t cells HP:0002845
15 increased number of cd4-/cd8- t cells expressing alpha/beta t-cell receptors HP:0002851
16 increased proportion of hla dr+ and cd57+ t cells HP:0002853
17 rheumatoid factor positive HP:0002923
18 reduced delayed hypersensitivity HP:0002972
19 increased igg level HP:0003237
20 increased iga level HP:0003261
21 smooth muscle antibody positivity HP:0003262
22 antineutrophil antibody positivity HP:0003453
23 platelet antibody positive HP:0003454
24 antinuclear antibody positivity HP:0003493
25 increased igm level HP:0003496
26 antiphospholipid antibody positivity HP:0003613
27 coombs-positive hemolytic anemia HP:0004844

Drugs & Therapeutics for Autoimmune Lymphoproliferative Syndrome, Type Ib

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Drug clinical trials:

Search ClinicalTrials for Autoimmune Lymphoproliferative Syndrome, Type Ib

Search NIH Clinical Center for Autoimmune Lymphoproliferative Syndrome, Type Ib

Genetic Tests for Autoimmune Lymphoproliferative Syndrome, Type Ib

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Genetic tests related to Autoimmune Lymphoproliferative Syndrome, Type Ib:

id Genetic test Affiliating Genes
1 Autoimmune Lymphoproliferative Syndrome, Type Ib20
2 Autoimmune Lymphoproliferative Syndrome, Type 1b22

Anatomical Context for Autoimmune Lymphoproliferative Syndrome, Type Ib

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Animal Models for Autoimmune Lymphoproliferative Syndrome, Type Ib or affiliated genes

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MGI Mouse Phenotypes related to Autoimmune Lymphoproliferative Syndrome, Type Ib:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.7FAS, FASLG, NRAS
2MP:00053678.7PRKCD, FASLG, FAS
3MP:00053708.3NRAS, PRKCD, FASLG, FAS
4MP:00053858.3FAS, FASLG, PRKCD, NRAS
5MP:00053978.2NRAS, PRKCD, FASLG, FAS
6MP:00053878.1NRAS, PRKCD, FASLG, FAS
7MP:00053847.9FAS, FASLG, PRKCD, NRAS

Publications for Autoimmune Lymphoproliferative Syndrome, Type Ib

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Variations for Autoimmune Lymphoproliferative Syndrome, Type Ib

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

64 (show all 22)
id Symbol AA change Variation ID SNP ID
1FASp.Thr28AlaVAR_013417
2FASp.Cys82ArgVAR_013418
3FASp.Arg121TrpVAR_013419
4FASp.Tyr232CysVAR_013423
5FASp.Thr241LysVAR_013424
6FASp.Thr241ProVAR_013425
7FASp.Arg250ProVAR_013426
8FASp.Arg250GlnVAR_013427
9FASp.Ala257AspVAR_013428
10FASp.Asp260GlyVAR_013429
11FASp.Asp260TyrVAR_013430
12FASp.Asp260ValVAR_013431rs28929498
13FASp.Thr270IleVAR_013433
14FASp.Glu272GlyVAR_013434
15FASp.Glu272LysVAR_013435
16FASp.Ile310SerVAR_013438
17FASp.Ile262SerVAR_058910
18FASp.Val249LeuVAR_065128
19FASp.Gly253AspVAR_065129
20FASp.Gly253SerVAR_065130
21FASp.Ile259ArgVAR_065131
22FASp.Thr270LysVAR_065132

Clinvar genetic disease variations for Autoimmune Lymphoproliferative Syndrome, Type Ib:

6
id Gene Name Type Significance SNP ID Assembly Location
1NRASNM_002524.4(NRAS): c.38G> A (p.Gly13Asp)single nucleotide variantPathogenicrs121434596GRCh37Chr 1, 115258744: 115258744
2FASLGNM_000639.1(FASLG): c.472_555del84 (p.Met158_Glu185del)deletionPathogenicrs80358236GRCh37Chr 1, 172634782: 172634865
3FASLGNM_000639.1(FASLG): c.466A> G (p.Arg156Gly)single nucleotide variantPathogenicrs80358238GRCh37Chr 1, 172634776: 172634776
4FASLGNM_000639.1(FASLG): c.740C> A (p.Ala247Glu)single nucleotide variantPathogenicrs80358237GRCh37Chr 1, 172635050: 172635050
5CASP10NM_032977.3(CASP10): c.1228G> A (p.Val410Ile)single nucleotide variantPathogenicrs13010627GRCh37Chr 2, 202074098: 202074098
6CASP10NM_032977.3(CASP10): c.853C> T (p.Leu285Phe)single nucleotide variantPathogenicrs17860403GRCh37Chr 2, 202072837: 202072837
7CASP10NM_032977.3(CASP10): c.1216A> C (p.Ile406Leu)single nucleotide variantPathogenicrs80358239GRCh37Chr 2, 202074086: 202074086

Expression for genes affiliated with Autoimmune Lymphoproliferative Syndrome, Type Ib

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Expression patterns in normal tissues for genes affiliated with Autoimmune Lymphoproliferative Syndrome, Type Ib

Search GEO for disease gene expression data for Autoimmune Lymphoproliferative Syndrome, Type Ib.

Pathways for genes affiliated with Autoimmune Lymphoproliferative Syndrome, Type Ib

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Pathways related to Autoimmune Lymphoproliferative Syndrome, Type Ib according to GeneCards/GeneDecks:

(show top 50)    (show all 51)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
PLK2 and PLK4 events37
Polo-like kinase signaling events in the cell cycle37
9.5NRAS, FASLG
2
Show member pathways
DNA damage response (only ATM dependent)37
Wnt Signaling Pathway and Pluripotency37
9.5PRKCD, FASLG
39.5PRKCD, FASLG
49.4NRAS, PRKCD
5
Show member pathways
MAPK Cascade37
Immune response Oncostatin M signaling via MAPK in human cells60
Oncostatin M Signaling Pathway37
9.4NRAS, PRKCD
6
Show member pathways
9.4NRAS, PRKCD
7
Show member pathways
9.4NRAS, PRKCD
8
Show member pathways
9.4PRKCD, NRAS
9
Show member pathways
9.4NRAS, PRKCD
10
Show member pathways
9.4PRKCD, NRAS
119.4PRKCD, NRAS
12
Show member pathways
Development ERBB family signaling60
Development GDNF family signaling60
9.4NRAS, PRKCD
13
Show member pathways
9.4NRAS, PRKCD
14
Show member pathways
Prolactin Signaling Pathway37
Development Prolactin receptor signaling60
Leptin signaling pathway37
9.4PRKCD, NRAS
159.4NRAS, PRKCD
16
Show member pathways
9.4NRAS, PRKCD
17
Show member pathways
Signal transduction cAMP signaling60
9.4PRKCD, NRAS
189.3CASP10, PRKCD
199.2FASLG, FAS
20
Show member pathways
Transcription NF kB signaling pathway60
Immune response Toll like receptor TLR ligands and common TLR signaling pathway leading to cell proinflammatory response60
9.2FAS, FASLG
219.2FASLG, FAS
229.2FASLG, FAS
23
Show member pathways
9.2FASLG, FAS
24
Show member pathways
9.0CASP10, FAS
259.0CASP10, FAS
269.0CASP10, FAS
27
Show member pathways
8.8NRAS, CASP10, PRKCD
28
Show member pathways
8.8NRAS, CASP10, PRKCD
29
Show member pathways
8.8NRAS, CASP10, PRKCD
30
Show member pathways
8.8NRAS, CASP10, PRKCD
31
Show member pathways
8.8NRAS, CASP10, PRKCD
32
Show member pathways
Immune response CD16 signaling in NK cells60
8.7FAS, FASLG, NRAS
338.7FAS, FASLG, NRAS
348.7NRAS, FASLG, FAS
35
Show member pathways
BCR signaling pathway37
TCR Signaling Pathway37
8.6FAS, PRKCD, NRAS
36
Show member pathways
Apoptosis and survival Apoptotic TNF family pathways60
8.6FAS, FASLG, CASP10
378.6FAS, FASLG, CASP10
38
Show member pathways
8.6FAS, FASLG, CASP10
39
Show member pathways
Apoptosis and survival TNFR1 signaling pathway60
TWEAK Signaling Pathway37
Apoptosis Modulation by HSP7037
HIV-1 Nef- Negative effector of Fas and TNF-alpha37
8.6FAS, FASLG, CASP10
40
Show member pathways
TRAIL signaling pathway37
8.6CASP10, FASLG, FAS
41
Show member pathways
Apoptosis Modulation and Signaling37
Apoptosis37
8.6CASP10, FASLG, FAS
428.6CASP10, FASLG, FAS
43
Show member pathways
FAS pathway and Stress induction of HSP regulation37
Apoptosis and survival FAS signaling cascades60
Caspase cascade in apoptosis37
8.6CASP10, FASLG, FAS
44
Show member pathways
8.6CASP10, FASLG, FAS
45
Show member pathways
Development EGFR signaling via PIP360
Development PDGF signaling via MAPK cascades60
Apoptosis and survival Anti apoptotic action of membrane bound ESR160
Signaling of Hepatocyte Growth Factor Receptor37
Development EGFR signaling via small GTPases60
Development Neurotrophin family signaling60
Apoptosis and survival NGF signaling pathway60
Apoptosis and survival Role of CDK5 in neuronal death and survival60
8.2FAS, FASLG, PRKCD, NRAS
46
Show member pathways
MAPK signaling pathway37
8.2FAS, FASLG, PRKCD, NRAS
47
Show member pathways
Toll-like receptor signaling pathway37
Regulation of toll-like receptor signaling pathway37
8.1NRAS, CASP10, FASLG, FAS
48
Show member pathways
8.1CASP10, PRKCD, FASLG, FAS
49
Show member pathways
Proteasome Degradation37
Immune response Antigen presentation by MHC class I60
8.1FAS, FASLG, PRKCD, CASP10
50
Show member pathways
7.5FAS, FASLG, PRKCD, CASP10, NRAS

Compounds for genes affiliated with Autoimmune Lymphoproliferative Syndrome, Type Ib

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Compounds related to Autoimmune Lymphoproliferative Syndrome, Type Ib according to GeneCards/GeneDecks:

(show top 50)    (show all 51)
idCompoundScoreTop Affiliating Genes
1(glc)4449.6FAS, FASLG
2atpo28 4410.6FASLG, FAS
3teniposide44 1110.6FASLG, FAS
4concanamycin a44 6110.6FASLG, FAS
52-chlorodeoxyadenosine449.6FASLG, FAS
63-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide449.6FASLG, FAS
7dutp449.6FASLG, FAS
8depsipeptide449.6FAS, FASLG
9suberoylanilide hydroxamic acid449.6FASLG, FAS
10fludarabine44 50 1111.6FASLG, FAS
11ivig449.6FASLG, FAS
12calyculin a44 61 1111.6FASLG, FAS
13ifn-alpha449.6FAS, FASLG
14c2ceramide449.5FASLG, FAS
15daunorubicin44 50 1111.5FAS, FASLG
16ag 1478449.5FASLG, FAS
17tetracycline44 1110.5FAS, FASLG
18anisomycin44 1110.5FASLG, FAS
19adpribose449.5FASLG, FAS
20mitomycin c449.5FASLG, FAS
21sp 60012544 6110.5FAS, FASLG
22morphine44 50 28 1112.4FASLG, FAS
23thymidylate449.4FASLG, FAS
24sodium nitroprusside449.4FASLG, FAS
25cytarabine44 50 1111.4FAS, FASLG
26resveratrol44 61 24 1112.3FASLG, FAS
27adriamycin449.3FASLG, FAS
28camptothecin44 61 1111.3FASLG, FAS
29mg 13244 6110.2FAS, FASLG
305-aza-2deoxycytidine449.2FASLG, FAS
31rottlerin449.1PRKCD, FASLG, FAS
32ionomycin449.1PRKCD, FASLG, FAS
33phosphatidylserine44 28 1111.1FAS, FASLG, PRKCD
34agar449.1NRAS, FASLG, FAS
35rapamycin449.1FAS, FASLG, PRKCD
36wortmannin449.1PRKCD, FASLG, FAS
37tgf beta1449.1FASLG, FAS
38doxorubicin44 50 1111.1FAS, FASLG, PRKCD
39cycloheximide449.1FAS, FASLG, PRKCD
40h2o2449.0PRKCD, FASLG, FAS
41oligonucleotide449.0NRAS, FASLG, FAS
42paclitaxel44 50 1111.0CASP10, FASLG, FAS
43actinomycin d449.0CASP10, FASLG, FAS
44phosphatidylinositol449.0FAS, FASLG, PRKCD
45nitric oxide44 24 1110.9PRKCD, FASLG, FAS
46agarose448.9FASLG, FAS
47tyrosine448.5NRAS, PRKCD, FASLG, FAS
48cisplatin44 50 61 1111.5CASP10, PRKCD, FASLG, FAS
49cysteine448.5FAS, FASLG, PRKCD, CASP10
50serine448.5FAS, FASLG, PRKCD, CASP10

GO Terms for genes affiliated with Autoimmune Lymphoproliferative Syndrome, Type Ib

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Cellular components related to Autoimmune Lymphoproliferative Syndrome, Type Ib according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1CD95 death-inducing signaling complexGO:0312658.7CASP10, FAS
2extracellular vesicular exosomeGO:0700628.2NRAS, PRKCD, FASLG, FAS

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1inflammatory cell apoptotic processGO:0069259.5FASLG, FAS
2fibroblast growth factor receptor signaling pathwayGO:0085439.4NRAS, PRKCD
3necroptotic signaling pathwayGO:0975279.4FASLG, FAS
4regulation of extrinsic apoptotic signaling pathway in absence of ligandGO:20012399.4FASLG, FAS
5extrinsic apoptotic signaling pathwayGO:0971919.4FAS, FASLG
6extrinsic apoptotic signaling pathway via death domain receptorsGO:0086259.3FAS, FASLG
7activation of cysteine-type endopeptidase activity involved in apoptotic processGO:0069199.3FASLG, FAS
8positive regulation of I-kappaB kinase/NF-kappaB signalingGO:0431239.1CASP10, FASLG
9regulation of apoptotic processGO:0429818.9CASP10, FAS
10innate immune responseGO:0450878.9NRAS, CASP10, PRKCD
11apoptotic signaling pathwayGO:0971908.8FAS, FASLG, CASP10
12signal transductionGO:0071658.7FAS, FASLG, PRKCD
13apoptotic processGO:0069158.3CASP10, PRKCD, FASLG, FAS

Products for genes affiliated with Autoimmune Lymphoproliferative Syndrome, Type Ib

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Sources for Autoimmune Lymphoproliferative Syndrome, Type Ib

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet