Autoimmune Lymphoproliferative Syndrome

Go to external page http://purl.bioontology.org/ontology/MESH/D056735


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.

Autoimmune lymphoproliferative syndrome due to mutations in CASPASE 8 gene.

Instance info

Synonyms

Lymphoproliferative Syndrome, Autoimmune, Canale-Smith Syndrome, Caspase 8 Deficiency, Autoimmunes lymphoproliferatives Syndrom Type 2B (ALPS2B) (DE), Deficiencies, Caspase-8, Caspase-8 Deficiencies, Autoimmune Lymphoproliferative Syndromes, Autoimmune Lymphoproliferative Syndrome Type 1, Autosomal Dominant, Syndrome, Canale-Smith, Autoimmunes lymphoproliferatives Syndrom Type 1, autosomal dominant (DE), Autoimmunes lymphoproliferatives Syndrom Type 2B (DE), Syndrome, Autoimmune Lymphoproliferative, Syndrome, Canale Smith, Autoimmune Lymphoproliferative Syndrome, Type I, Autosomal Dominant, Deficiency, Caspase 8, Canale-Smith-Syndrom (DE), Caspase-8 Deficiency, Syndromes, Canale-Smith, Autoimmune Lymphoproliferative Syndrome Type 2B, Caspase 8 Deficiencies, Canale Smith Syndrome, Deficiency, Caspase-8, Autoimmune Lymphoproliferative Syndrome, Type IIb, Canale-Smith Syndromes, Autoimmunes lymphoproliferatives Syndrom (DE), Syndromes, Autoimmune Lymphoproliferative, Lymphoproliferative Syndromes, Autoimmune, Deficiencies, Caspase 8, Autoimmune Lymphoproliferative Syndrome Type 2B (ALPS2B)

AQL

BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI

DC

1

DX

20100101

FX

D019014,D053181,D053450,D053455

HN

2010

MDA

20090706

MMR

20170717

MN

C15.604.515.138,C16.320.089,C20.111.288,C20.683.515.124

PM

2010

QB

http://purl.bioontology.org/ontology/MESH/Q000175,http://purl.bioontology.org/ontology/MESH/Q000097,http://purl.bioontology.org/ontology/MESH/Q000196,http://purl.bioontology.org/ontology/MESH/Q000150,http://purl.bioontology.org/ontology/MESH/Q000191,http://purl.bioontology.org/ontology/MESH/Q000139,http://purl.bioontology.org/ontology/MESH/Q000534,http://purl.bioontology.org/ontology/MESH/Q000378,http://purl.bioontology.org/ontology/MESH/Q000235,http://purl.bioontology.org/ontology/MESH/Q000532,http://purl.bioontology.org/ontology/MESH/Q000652,http://purl.bioontology.org/ontology/MESH/Q000178,http://purl.bioontology.org/ontology/MESH/Q000134,http://purl.bioontology.org/ontology/MESH/Q000453,http://purl.bioontology.org/ontology/MESH/Q000276,http://purl.bioontology.org/ontology/MESH/Q000473,http://purl.bioontology.org/ontology/MESH/Q000000981,http://purl.bioontology.org/ontology/MESH/Q000451,http://purl.bioontology.org/ontology/MESH/Q000517,http://purl.bioontology.org/ontology/MESH/Q000382,http://purl.bioontology.org/ontology/MESH/Q000601,http://purl.bioontology.org/ontology/MESH/Q000469,http://purl.bioontology.org/ontology/MESH/Q000821,http://purl.bioontology.org/ontology/MESH/Q000523,http://purl.bioontology.org/ontology/MESH/Q000401,http://purl.bioontology.org/ontology/MESH/Q000201,http://purl.bioontology.org/ontology/MESH/Q000145,http://purl.bioontology.org/ontology/MESH/Q000266,http://purl.bioontology.org/ontology/MESH/Q000662,http://purl.bioontology.org/ontology/MESH/Q000188,http://purl.bioontology.org/ontology/MESH/Q000628,http://purl.bioontology.org/ontology/MESH/Q000209,http://purl.bioontology.org/ontology/MESH/Q000208,http://purl.bioontology.org/ontology/MESH/Q000503

RO

http://purl.bioontology.org/ontology/MESH/D053181,http://purl.bioontology.org/ontology/MESH/D053455,http://purl.bioontology.org/ontology/MESH/D019014,http://purl.bioontology.org/ontology/MESH/D053450

SIB

http://purl.bioontology.org/ontology/MESH/D017436,http://purl.bioontology.org/ontology/MESH/D009136,http://purl.bioontology.org/ontology/MESH/D025063,http://purl.bioontology.org/ontology/MESH/D010009,http://purl.bioontology.org/ontology/MESH/D010004,http://purl.bioontology.org/ontology/MESH/D000312,http://purl.bioontology.org/ontology/MESH/D055947,http://purl.bioontology.org/ontology/MESH/D052159,http://purl.bioontology.org/ontology/MESH/D009800,http://purl.bioontology.org/ontology/MESH/D054179,http://purl.bioontology.org/ontology/MESH/D050010,http://purl.bioontology.org/ontology/MESH/D065768,http://purl.bioontology.org/ontology/MESH/D010013,http://purl.bioontology.org/ontology/MESH/D006099,http://purl.bioontology.org/ontology/MESH/D015785,http://purl.bioontology.org/ontology/MESH/D019867,http://purl.bioontology.org/ontology/MESH/D020294,http://purl.bioontology.org/ontology/MESH/D007619,http://purl.bioontology.org/ontology/MESH/D025861,http://purl.bioontology.org/ontology/MESH/D015275,http://purl.bioontology.org/ontology/MESH/D009879,http://purl.bioontology.org/ontology/MESH/D008382,http://purl.bioontology.org/ontology/MESH/D016884,http://purl.bioontology.org/ontology/MESH/D010381,http://purl.bioontology.org/ontology/MESH/D006362,http://purl.bioontology.org/ontology/MESH/D008661,http://purl.bioontology.org/ontology/MESH/D015433,http://purl.bioontology.org/ontology/MESH/D008380,http://purl.bioontology.org/ontology/MESH/D000071070,http://purl.bioontology.org/ontology/MESH/D053306,http://purl.bioontology.org/ontology/MESH/D008258,http://purl.bioontology.org/ontology/MESH/D010391,http://purl.bioontology.org/ontology/MESH/D003922,http://purl.bioontology.org/ontology/MESH/D007161,http://purl.bioontology.org/ontology/MESH/D010392,http://purl.bioontology.org/ontology/MESH/D006111,http://purl.bioontology.org/ontology/MESH/D009101,http://purl.bioontology.org/ontology/MESH/D010954,http://purl.bioontology.org/ontology/MESH/D000074079,http://purl.bioontology.org/ontology/MESH/D040181,http://purl.bioontology.org/ontology/MESH/D003874,http://purl.bioontology.org/ontology/MESH/D056648,http://purl.bioontology.org/ontology/MESH/D000077733,http://purl.bioontology.org/ontology/MESH/D000069281,http://purl.bioontology.org/ontology/MESH/D000361,http://purl.bioontology.org/ontology/MESH/D000071698,http://purl.bioontology.org/ontology/MESH/D019896,http://purl.bioontology.org/ontology/MESH/D001172,http://purl.bioontology.org/ontology/MESH/D058747,http://purl.bioontology.org/ontology/MESH/D012507,http://purl.bioontology.org/ontology/MESH/D001171,http://purl.bioontology.org/ontology/MESH/D000072661,http://purl.bioontology.org/ontology/MESH/D053840,http://purl.bioontology.org/ontology/MESH/D055501,http://purl.bioontology.org/ontology/MESH/D050174,http://purl.bioontology.org/ontology/MESH/D007943,http://purl.bioontology.org/ontology/MESH/D005922,http://purl.bioontology.org/ontology/MESH/D007945,http://purl.bioontology.org/ontology/MESH/D012751,http://purl.bioontology.org/ontology/MESH/D014898,http://purl.bioontology.org/ontology/MESH/D012873,http://purl.bioontology.org/ontology/MESH/D058631,http://purl.bioontology.org/ontology/MESH/D016553,http://purl.bioontology.org/ontology/MESH/D006453,http://purl.bioontology.org/ontology/MESH/D004392,http://purl.bioontology.org/ontology/MESH/D013967,http://purl.bioontology.org/ontology/MESH/D000224,http://purl.bioontology.org/ontology/MESH/D049970,http://purl.bioontology.org/ontology/MESH/D029502,http://purl.bioontology.org/ontology/MESH/D046589,http://purl.bioontology.org/ontology/MESH/D005871,http://purl.bioontology.org/ontology/MESH/D009958,http://purl.bioontology.org/ontology/MESH/D000744,http://purl.bioontology.org/ontology/MESH/D056660,http://purl.bioontology.org/ontology/MESH/D000745,http://purl.bioontology.org/ontology/MESH/D062027,http://purl.bioontology.org/ontology/MESH/D008223,http://purl.bioontology.org/ontology/MESH/D008180,http://purl.bioontology.org/ontology/MESH/D031845,http://purl.bioontology.org/ontology/MESH/D024741,http://purl.bioontology.org/ontology/MESH/D000077428,http://purl.bioontology.org/ontology/MESH/D056731,http://purl.bioontology.org/ontology/MESH/D002636,http://purl.bioontology.org/ontology/MESH/D003966,http://purl.bioontology.org/ontology/MESH/D000699,http://purl.bioontology.org/ontology/MESH/D009386,http://purl.bioontology.org/ontology/MESH/D007244,http://purl.bioontology.org/ontology/MESH/D001260,http://purl.bioontology.org/ontology/MESH/D016738,http://purl.bioontology.org/ontology/MESH/D009261,http://purl.bioontology.org/ontology/MESH/D016736,http://purl.bioontology.org/ontology/MESH/D000075363,http://purl.bioontology.org/ontology/MESH/D020271,http://purl.bioontology.org/ontology/MESH/D019693,http://purl.bioontology.org/ontology/MESH/D020274,http://purl.bioontology.org/ontology/MESH/D003550,http://purl.bioontology.org/ontology/MESH/D008203,http://purl.bioontology.org/ontology/MESH/D056685,http://purl.bioontology.org/ontology/MESH/D056684,http://purl.bioontology.org/ontology/MESH/D007119

TERMUI

T000903211,T734564,T734036,T812546,T734032,T734031,T812547,T735248,T734037,T746514

TH

GHR (2014),ORD (2010),OMIM (2013),NLM (2010)

cui

C1328840,C2717884,C1846545

hasSTY

http://purl.bioontology.org/ontology/STY/T047

mapped from

http://purl.bioontology.org/ontology/MESH/C565833,http://purl.bioontology.org/ontology/MESH/C566615,http://purl.bioontology.org/ontology/MESH/C566614,http://purl.bioontology.org/ontology/MESH/C566613,http://purl.bioontology.org/ontology/MESH/C535950

tui

T047

Instance relations

Types