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expandAutoimmune Diseases (D001327)
Parent Node:
expandGenetic Diseases, Inborn (D030342)
Parent Node:
expandLymphoproliferative Disorders (D008232)
..Starting node
..expandAutoimmune Lymphoproliferative Syndrome (D056735)

       Child Nodes:
........expandAutoimmune Lymphoproliferative Syndrome, Type I, Autosomal Recessive (C566615)
........expandAutoimmune Lymphoproliferative Syndrome, Type IA (C566613)
........expandAutoimmune Lymphoproliferative Syndrome, Type IB (C566614)
........expandAutoimmune Lymphoproliferative Syndrome, Type IIA (C565833)
........expandDianzani autoimmune lymphoproliferative syndrome (C535950)



 Sister Nodes: 
..expandAgammaglobulinemia (D000361) Child19
..expandAutoimmune Lymphoproliferative Syndrome (D056735) Child5
..expandGiant Lymph Node Hyperplasia (D005871) Child2
..expandGranuloma (D006099) Child17
..expandHeavy Chain Disease (D006362) Child7
..expandImmunoblastic Lymphadenopathy (D007119)
..expandImmunoproliferative Small Intestinal Disease (D007161)
..expandInfectious Mononucleosis (D007244)
..expandLeukemia, Hairy Cell (D007943)
..expandLeukemia, Lymphoid (D007945) Child14
..expandLymphangiomyoma (D008203) Child1
..expandLymphoma (D008223) Child36
..expandLymphoproliferative Syndrome, Ebv-Associated, Autosomal, 1 (C567815)
..expandLymphoproliferative Syndrome, X-Linked, 2 (C564469)
..expandMacrophage Activation Syndrome (D055501)
..expandMarek Disease (D008380)
..expandMultiple Myeloma (D009101) Child1
..expandPlasmacytoma (D010954) Child1
..expandSarcoidosis (D012507) Child4
..expandSezary Syndrome (D012751)
..expandTumor Lysis Syndrome (D015275)
..expandWaldenstrom Macroglobulinemia (D008258)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:1084
Name:Autoimmune Lymphoproliferative Syndrome
Definition:Rare congenital lymphoid disorder due to mutations in certain Fas-Fas ligand pathway genes. Known causes include mutations in FAS, TNFSF6, NRAS, CASP8, and CASP10 proteins. Clinical features include LYMPHADENOPATHY; SPLENOMEGALY; and AUTOIMMUNITY.
Alternative IDs:OMIM:601859|OMIM:607271
ParentIDs:MESH:D001327|MESH:D008232|MESH:D030342
TreeNumbers:C15.604.515.138 |C16.320.089 |C20.111.288 |C20.683.515.124
Synonyms:ALPS |ALPS1A, INCLUDED |ALPS1B, INCLUDED |ALPS2B |Autoimmune Lymphoproliferative Syndromes |Autoimmune Lymphoproliferative Syndrome Type 1, Autosomal Dominant |Autoimmune Lymphoproliferative Syndrome Type 2B |Autoimmune Lymphoproliferative Syndrome Type 2B (ALP
Slim Mappings:Genetic disease (inborn)|Immune system disease|Lymphatic disease
Reference: MedGen: D056735
MeSH: D056735
OMIM: 601859;

Genes: CASP8; FAS; FASLG;
Phenotypes
1 HP:0001890Autoimmune hemolytic anemia
2 HP:0001973Autoimmune thrombocytopenia
3 HP:0000006Autosomal dominant inheritance
4 HP:0003453Antineutrophil antibody positivity
5 HP:0003493Antinuclear antibody positivity
6 HP:0003613Antiphospholipid antibody positivity
7 HP:0002730Chronic noninfectious lymphadenopathy
8 HP:0004844Coombs-positive hemolytic anemia
9 HP:0002731Decreased lymphocyte apoptosis
10 HP:0002851Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells
11 HP:0001880Eosinophilia
12 HP:0002729Follicular hyperplasia
13 HP:0002240Hepatomegaly
14 HP:0003261Increased circulating IgA level
15 HP:0003237Increased circulating IgG level
16 HP:0003496Increased circulating IgM level
17 HP:0002853Increased proportion of HLA DR+ T cells
18 HP:0001891Iron deficiency anemia
19 HP:0001904Neutropenia in presence of anti-neutropil antibodies
20 HP:0003454Platelet antibody positive
21 HP:0002972Reduced delayed hypersensitivity
22 HP:0002923Rheumatoid factor positive
23 HP:0003262Smooth muscle antibody positivity
24 HP:0001744Splenomegaly
25 HP:0001025Urticaria
26 HP:0002633Vasculitis
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_000043.5(FAS):c.183G>A (p.Lys61=)355FASUncertain significance3218613RCV000143988; NMedGen:C1328840,OMIM:601859,ORPHA:3261109076293890762938NM_000043.5:c.183G>ANP_000034.1:p.Lys61=NC_000010.10:g.90762938G>A-C1328840 601859 Autoimmune lymphoproliferative syndrome
NM_000639.2(FASLG):c.263delT (p.Phe88Serfs)356FASLGPathogenic587776450RCV000144151; NMedGen:C1328840,OMIM:601859,ORPHA:32611172628604172628604NM_000639.2:c.263delTNP_000630.1:p.Phe88Serfs-C1328840 601859 Autoimmune lymphoproliferative syndrome
NM_000639.2(FASLG):c.466A>G (p.Arg156Gly)356FASLGPathogenic80358238RCV000020369; NMedGen:C1328840,OMIM:601859,ORPHA:32611172634776172634776NM_000639.2:c.466A>GNP_000630.1:p.Arg156GlyNC_000001.10:g.172634776A>G-C1328840 601859 Autoimmune lymphoproliferative syndrome