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

ALPS2A MCID: ATM097 MIFTS: 43	Autoimmune Lymphoproliferative Syndrome, Type Iia (ALPS2A) Categories: Blood diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Autoimmune Lymphoproliferative Syndrome, Type Iia

MalaCards integrated aliases for Autoimmune Lymphoproliferative Syndrome, Type Iia:

Name: Autoimmune Lymphoproliferative Syndrome, Type Iia ⁵⁶ ⁷¹

Autoimmune Lymphoproliferative Syndrome, Type Ii ⁵⁶ ⁷³ ¹³ ⁵⁴

Alps2a ⁵⁶ ¹² ⁷³

Autoimmune Lymphoproliferative Syndrome Type Iia ¹² ⁷³

Autoimmune Lymphoproliferative Syndrome, Type 2a ²⁹ ⁶

Autoimmune Lymphoproliferative Syndrome Type 2a ¹² ¹⁵

Alps2 ⁵⁶ ⁷³

Autoimmune Lymphoproliferative Syndrome, Type Ii; Alps2 ⁵⁶

Autoimmune Lymphoproliferative Syndrome, Type 2 ³⁹

Autoimmune Lymphoproliferative Syndrome Type 2 ⁶

Autoimmune Lymphoproliferative Syndrome 2a ⁷³

Characteristics:

OMIM:

⁵⁶

Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy or childhood

HPO:

³¹

autoimmune lymphoproliferative syndrome, type iia:
Inheritance autosomal dominant inheritance
Onset and clinical course juvenile onset

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Immune diseases Gastrointestinal diseases Blood diseases

See all MalaCards categories (disease lists)

ICD10: ³²

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

External Ids:

Disease Ontology ¹² DOID:0110115

OMIM ⁵⁶ 603909

MeSH ⁴³ D056735

ICD10 ³² D47.9

MedGen ⁴¹ C1858968

UMLS ⁷¹ C1858968

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Summaries for Autoimmune Lymphoproliferative Syndrome, Type Iia

UniProtKB/Swiss-Prot : ⁷³ Autoimmune lymphoproliferative syndrome 2A: 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.

MalaCards based summary : Autoimmune Lymphoproliferative Syndrome, Type Iia, also known as autoimmune lymphoproliferative syndrome, type ii, is related to exanthem and autoimmune lymphoproliferative syndrome. An important gene associated with Autoimmune Lymphoproliferative Syndrome, Type Iia is CASP10 (Caspase 10), and among its related pathways/superpathways are Cell adhesion molecules (CAMs) and Hematopoietic Stem Cells and Lineage-specific Markers. Affiliated tissues include t cells, smooth muscle and b cells, and related phenotypes are splenomegaly and hepatomegaly

Disease Ontology : ¹² An autoimmune lymphoproliferative syndrome that has material basis in mutation in the CASP10 gene.

More information from OMIM: 603909

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Related Diseases for Autoimmune Lymphoproliferative Syndrome, Type Iia

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, Type Iia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 229)

#	Related Disease	Score	Top Affiliating Genes
1	exanthem	30.0	CD8A CD4
2	autoimmune lymphoproliferative syndrome	29.3	CD8A CD4 CASP10
3	juvenile arthritis	10.1
4	lymphoproliferative syndrome	10.1
5	pericarditis	10.1
6	juvenile rheumatoid arthritis	10.1
7	splenomegaly	10.1
8	systemic onset juvenile idiopathic arthritis	10.1
9	periodic fever, familial, autosomal dominant	10.0
10	alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity	10.0
11	lymphoma	10.0
12	cork-handlers' disease	9.9	CD8A CD4
13	ventilation pneumonitis	9.9	CD8A CD4
14	diffuse infiltrative lymphocytosis syndrome	9.9	CD8A CD4
15	diabetes mellitus, insulin-dependent, 23	9.9	CD8A CD4
16	early yaws	9.9	CD8A CD4
17	bird fancier's lung	9.9	CD8A CD4
18	parapsoriasis	9.9	CD8A CD4
19	norwegian scabies	9.9	CD8A CD4
20	skin sarcoidosis	9.9	CD8A CD4
21	variola major	9.9	CD8A CD4
22	follicular mucinosis	9.9	CD8A CD4
23	viral exanthem	9.9	CD8A CD4
24	tertiary syphilis	9.9	CD8A CD4
25	syphilis	9.9	CD8A CD4
26	spongiotic dermatitis	9.9	CD8A CD4
27	acute retinal necrosis syndrome	9.9	CD8A CD4
28	invasive malignant thymoma	9.9	CD8A CD4
29	metal allergy	9.9	CD8A CD4
30	cerebritis	9.9	CD8A CD4
31	granulomatous hepatitis	9.9	CD8A CD4
32	acute interstitial pneumonia	9.9	CD8A CD4
33	west nile encephalitis	9.9	CD8A CD4
34	oral hairy leukoplakia	9.9	CD8A CD4
35	superficial basal cell carcinoma	9.9	CD8A CD4
36	secondary syphilis	9.9	CD8A CD4
37	glanders	9.9	CD8A CD4
38	parotid disease	9.9	CD8A CD4
39	nickel allergic contact dermatitis	9.9	CD8A CD4
40	west nile fever	9.9	CD8A CD4
41	neurosarcoidosis	9.9	CD8A CD4
42	esophageal candidiasis	9.9	CD8A CD4
43	myeloid and lymphoid neoplasms associated with fgfr1 abnormalities	9.9	CD8A CD4
44	cardiomyopathy, familial hypertrophic, 9	9.9	CD8A CD4
45	oral tuberculosis	9.9	CD8A CD4
46	pneumonic tularemia	9.9	CD8A CD4
47	tularemia	9.9	CD8A CD4
48	farmer's lung	9.9	CD8A CD4
49	pneumonic plague	9.9	CD8A CD4
50	plague	9.9	CD8A CD4

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

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Symptoms & Phenotypes for Autoimmune Lymphoproliferative Syndrome, Type Iia

Human phenotypes related to Autoimmune Lymphoproliferative Syndrome, Type Iia:

³¹ (show all 29)

#	Description	HPO Source Accession
1	splenomegaly ³¹	HP:0001744
2	hepatomegaly ³¹	HP:0002240
3	urticaria ³¹	HP:0001025
4	nephrotic syndrome ³¹	HP:0000100
5	vasculitis ³¹	HP:0002633
6	eosinophilia ³¹	HP:0001880
7	autoimmune hemolytic anemia ³¹	HP:0001890
8	follicular hyperplasia ³¹	HP:0002729
9	increased circulating iga level ³¹	HP:0003261
10	antiphospholipid antibody positivity ³¹	HP:0003613
11	autoimmune thrombocytopenia ³¹	HP:0001973
12	increased circulating igm level ³¹	HP:0003496
13	rheumatoid factor positive ³¹	HP:0002923
14	antinuclear antibody positivity ³¹	HP:0003493
15	iron deficiency anemia ³¹	HP:0001891
16	coombs-positive hemolytic anemia ³¹	HP:0004844
17	neutropenia in presence of anti-neutropil antibodies ³¹	HP:0001904
18	increased circulating igg level ³¹	HP:0003237
19	nephritis ³¹	HP:0000123
20	chronic noninfectious lymphadenopathy ³¹	HP:0002730
21	malar rash ³¹	HP:0025300
22	smooth muscle antibody positivity ³¹	HP:0003262
23	antineutrophil antibody positivity ³¹	HP:0003453
24	elevated proportion of cd4-negative, cd8-negative, alpha-beta regulatory t cells ³¹	HP:0002851
25	increased b cell count ³¹	HP:0005404
26	platelet antibody positive ³¹	HP:0003454
27	reduced delayed hypersensitivity ³¹	HP:0002972
28	decreased lymphocyte apoptosis ³¹	HP:0002731
29	increased proportion of hla dr+ t cells ³¹	HP:0002853

Symptoms via clinical synopsis from OMIM:

⁵⁶

Abdomen Spleen:
splenomegaly

Skin Nails Hair Skin:
urticaria
malar rash
vasculitis rash

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

Abdomen Liver:
hepatomegaly

Genitourinary Kidneys:
nephrotic syndrome
nephritis
membranous glomerulonephropathy

Laboratory Abnormalities:
rheumatoid factor positive
platelet antibody positive
increased levels of igg
increased levels of iga
increased levels of igm
more

Clinical features from OMIM:

603909

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Drugs & Therapeutics for Autoimmune Lymphoproliferative Syndrome, Type Iia

Search Clinical Trials , NIH Clinical Center for Autoimmune Lymphoproliferative Syndrome, Type Iia

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Genetic Tests for Autoimmune Lymphoproliferative Syndrome, Type Iia

Genetic tests related to Autoimmune Lymphoproliferative Syndrome, Type Iia:

#	Genetic test	Affiliating Genes
1	Autoimmune Lymphoproliferative Syndrome, Type 2a ²⁹	CASP10

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Anatomical Context for Autoimmune Lymphoproliferative Syndrome, Type Iia

MalaCards organs/tissues related to Autoimmune Lymphoproliferative Syndrome, Type Iia:

⁴⁰

T Cells, Smooth Muscle, B Cells, Lymph Node, Neutrophil

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Publications for Autoimmune Lymphoproliferative Syndrome, Type Iia

Articles related to Autoimmune Lymphoproliferative Syndrome, Type Iia:

#	Title	Authors	PMID	Year
1	Inherited human Caspase 10 mutations underlie defective lymphocyte and dendritic cell apoptosis in autoimmune lymphoproliferative syndrome type II. ⁵⁶ ⁶¹ ⁵⁴ ⁶	Wang J...Lenardo MJ	10412980	1999
2	Genetic alterations in caspase-10 may be causative or protective in autoimmune lymphoproliferative syndrome. ⁶ ⁵⁶	Zhu S...Puck JM	16446975	2006
3	Analysis of protein-coding genetic variation in 60,706 humans. ⁶	Lek M...Exome Aggregation Consortium	27535533	2016
4	Autoimmune Lymphoproliferative Syndrome ⁶	Bleesing JJH...Zhang K	20301287	2006
5	Clincal, immunologic, and genetic features of an autoimmune lymphoproliferative syndrome associated with abnormal lymphocyte apoptosis. ⁵⁶	Sneller MC...Straus SE	9028957	1997
6	Mutations in apoptosis genes: a pathogenetic factor for human disease. ⁶¹ ⁵⁴	Mullauer L...Chott A	11397650	2001
7	Exonic deletion of CASP10 in a patient presenting with systemic juvenile idiopathic arthritis, but not with autoimmune lymphoproliferative syndrome type IIa. ⁶¹	Tadaki H...Matsumoto N	21382177	2011
8	Revision of the diagnosis of T-zone lymphoma in the father of a patient with autoimmune lymphoproliferative syndrome type II. ⁶¹	van der Werff ten Bosch J...Thielemans K	10520011	1999
9	Reversible monoclonal lymphadenopathy in autoimmune lymphoproliferative syndrome with functional FAS (CD95/APO-1) deficiency. ⁶¹	Strobel P...Marx A	10403307	1999

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Genes for Autoimmune Lymphoproliferative Syndrome, Type Iia

Genes related to Autoimmune Lymphoproliferative Syndrome, Type Iia (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	CASP10	Caspase 10	Protein Coding	1317.71	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ Novoseek inferred ⁵⁴ GeneCards inferred via : Publications (show sections)	16446975 27535533 10412980 (more) 20301287 10412980 11397650
2	CD8A	CD8a Molecule	Protein Coding	3.68	DISEASES inferred ¹⁵
3	CD4	CD4 Molecule	Protein Coding	3.5	DISEASES inferred ¹⁵

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Variations for Autoimmune Lymphoproliferative Syndrome, Type Iia

ClinVar genetic disease variations for Autoimmune Lymphoproliferative Syndrome, Type Iia:

⁶ (show top 50) (show all 164) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	CASP10	NM_032977.3(CASP10):c.853C>T (p.Leu285Phe)	SNV	Pathogenic	7764	rs17860403	2:202072837-202072837	2:201208114-201208114
2	CASP10	NM_032977.3(CASP10):c.1216A>C (p.Ile406Leu)	SNV	Conflicting interpretations of pathogenicity	7769	rs80358239	2:202074086-202074086	2:201209363-201209363
3	CASP10	NM_032977.3(CASP10):c.1466G>A (p.Arg489Gln)	SNV	Conflicting interpretations of pathogenicity	333440	rs535121774	2:202082361-202082361	2:201217638-201217638
4	CASP10	NM_032977.3(CASP10):c.1502C>T (p.Pro501Leu)	SNV	Conflicting interpretations of pathogenicity	333441	rs148939095	2:202082397-202082397	2:201217674-201217674
5	CASP10	NM_032977.3(CASP10):c.1321G>A (p.Ala441Thr)	SNV	Conflicting interpretations of pathogenicity	643723		2:202074191-202074191	2:201209468-201209468
6	CASP10	NM_032977.3(CASP10):c.1202_1208del (p.Cys401fs)	deletion	Conflicting interpretations of pathogenicity	535760	rs747900630	2:202074072-202074078	2:201209349-201209355
7	CASP10	NM_032977.4(CASP10):c.81T>C (p.Ile27=)	SNV	Conflicting interpretations of pathogenicity	714082		2:202050581-202050581	2:201185858-201185858
8	CASP10	NM_032977.4(CASP10):c.-8+5G>A	SNV	Conflicting interpretations of pathogenicity	801851		2:202048036-202048036	2:201183313-201183313
9	CASP10	NM_032977.3(CASP10):c.20A>G (p.His7Arg)	SNV	Conflicting interpretations of pathogenicity	333415	rs200935960	2:202050520-202050520	2:201185797-201185797
10	CASP10	NM_032977.3(CASP10):c.361G>A (p.Glu121Lys)	SNV	Uncertain significance	333421	rs565907504	2:202052442-202052442	2:201187719-201187719
11	CASP10	NM_032977.3(CASP10):c.*1257G>A	SNV	Uncertain significance	333460	rs886055414	2:202083721-202083721	2:201218998-201218998
12	CASP10	NM_032977.3(CASP10):c.*1366T>C	SNV	Uncertain significance	333461	rs886055415	2:202083830-202083830	2:201219107-201219107
13	CASP10	NM_032977.3(CASP10):c.*2425C>G	SNV	Uncertain significance	333475	rs886055421	2:202084889-202084889	2:201220166-201220166
14	CASP10	NM_032977.3(CASP10):c.*480A>G	SNV	Uncertain significance	333449	rs539196058	2:202082944-202082944	2:201218221-201218221
15	CASP10	NM_032977.3(CASP10):c.*657G>C	SNV	Uncertain significance	333450	rs886055408	2:202083121-202083121	2:201218398-201218398
16	CASP10	NM_032977.3(CASP10):c.*3420C>T	SNV	Uncertain significance	333492	rs536711035	2:202085884-202085884	2:201221161-201221161
17	CASP10	NM_032977.4(CASP10):c.325C>T (p.Arg109Ter)	SNV	Uncertain significance	801852		2:202050825-202050825	2:201186102-201186102
18	CASP10	NC_000002.12:g.(?_201185758)_(201229103_?)dup	duplication	Uncertain significance	833235		2:202050481-202093826
19	CASP10	NC_000002.12:g.(?_201192964)_(201193139_?)dup	duplication	Uncertain significance	833232		2:202057687-202057862
20	CASP10	NM_032977.4(CASP10):c.136T>G (p.Leu46Val)	SNV	Uncertain significance	854034		2:202050636-202050636	2:201185913-201185913
21	CASP10	NM_032977.4(CASP10):c.142C>T (p.Pro48Ser)	SNV	Uncertain significance	839357		2:202050642-202050642	2:201185919-201185919
22	CASP10	NM_032977.4(CASP10):c.208C>G (p.Leu70Val)	SNV	Uncertain significance	838561		2:202050708-202050708	2:201185985-201185985
23	CASP10	NM_032977.4(CASP10):c.553A>G (p.Ile185Val)	SNV	Uncertain significance	857497		2:202057818-202057818	2:201193095-201193095
24	CASP10	NM_032977.4(CASP10):c.554T>G (p.Ile185Arg)	SNV	Uncertain significance	840409		2:202057819-202057819	2:201193096-201193096
25	CASP10	NM_032977.4(CASP10):c.733A>C (p.Thr245Pro)	SNV	Uncertain significance	844627		2:202070616-202070616	2:201205893-201205893
26	CASP10	NM_032977.4(CASP10):c.786C>G (p.Asn262Lys)	SNV	Uncertain significance	835257		2:202070669-202070669	2:201205946-201205946
27	CASP10	NM_032977.4(CASP10):c.797C>T (p.Ser266Phe)	SNV	Uncertain significance	849666		2:202070680-202070680	2:201205957-201205957
28	CASP10	NM_032977.4(CASP10):c.802A>C (p.Thr268Pro)	SNV	Uncertain significance	847605		2:202070685-202070685	2:201205962-201205962
29	CASP10	NM_032977.4(CASP10):c.1288A>T (p.Ile430Phe)	SNV	Uncertain significance	860550		2:202074158-202074158	2:201209435-201209435
30	CASP10	NM_032977.4(CASP10):c.1415+1G>A	SNV	Uncertain significance	851636		2:202074286-202074286	2:201209563-201209563
31	CASP10	NM_032976.3(CASP10):c.-314G>A	SNV	Uncertain significance	896762		2:202047725-202047725	2:201183002-201183002
32	CASP10	NM_032977.4(CASP10):c.502A>G (p.Thr168Ala)	SNV	Uncertain significance	895424		2:202057767-202057767	2:201193044-201193044
33	CASP10	NM_032977.4(CASP10):c.1025A>G (p.Asn342Ser)	SNV	Uncertain significance	898479		2:202073895-202073895	2:201209172-201209172
34	CASP10	NM_032977.4(CASP10):c.1060T>C (p.Cys354Arg)	SNV	Uncertain significance	898480		2:202073930-202073930	2:201209207-201209207
35	CASP10	NM_032977.4(CASP10):c.*116C>A	SNV	Uncertain significance	896888		2:202082580-202082580	2:201217857-201217857
36	CASP10	NM_032977.4(CASP10):c.*911T>G	SNV	Uncertain significance	898550		2:202083375-202083375	2:201218652-201218652
37	CASP10	NM_032977.4(CASP10):c.*1022C>T	SNV	Uncertain significance	898551		2:202083486-202083486	2:201218763-201218763
38	CASP10	NM_032977.4(CASP10):c.*1258G>T	SNV	Uncertain significance	895563		2:202083722-202083722	2:201218999-201218999
39	CASP10	NM_032977.4(CASP10):c.*1327G>A	SNV	Uncertain significance	895564		2:202083791-202083791	2:201219068-201219068
40	CASP10	NM_032977.4(CASP10):c.*1395G>A	SNV	Uncertain significance	895565		2:202083859-202083859	2:201219136-201219136
41	CASP10	NM_032977.4(CASP10):c.*1542A>T	SNV	Uncertain significance	896965		2:202084006-202084006	2:201219283-201219283
42	CASP10	NM_032977.4(CASP10):c.*1624T>C	SNV	Uncertain significance	896966		2:202084088-202084088	2:201219365-201219365
43	CASP10	NM_032977.4(CASP10):c.*1654C>T	SNV	Uncertain significance	896967		2:202084118-202084118	2:201219395-201219395
44	CASP10	NM_032977.3(CASP10):c.1348C>T (p.Arg450Trp)	SNV	Uncertain significance	655373		2:202074218-202074218	2:201209495-201209495
45	CASP10	NC_000002.12:g.(?_201203710)_(201209582_?)del	deletion	Uncertain significance	655232		2:202068433-202074305	2:201203710-201209582
46	CASP10	NM_032977.3(CASP10):c.478G>A (p.Gly160Ser)	SNV	Uncertain significance	467715	rs781000749	2:202057743-202057743	2:201193020-201193020
47	CASP10	NM_032977.3(CASP10):c.491A>C (p.Glu164Ala)	SNV	Uncertain significance	467716	rs1165543405	2:202057756-202057756	2:201193033-201193033
48	CASP10	NM_032977.3(CASP10):c.683C>T (p.Pro228Leu)	SNV	Uncertain significance	535761	rs143882052	2:202060670-202060670	2:201195947-201195947
49	CASP10	NM_032977.3(CASP10):c.920C>A (p.Ala307Asp)	SNV	Uncertain significance	535757	rs1291372845	2:202072904-202072904	2:201208181-201208181
50	CASP10	NM_032977.3(CASP10):c.247C>G (p.Leu83Val)	SNV	Uncertain significance	535759	rs759913674	2:202050747-202050747	2:201186024-201186024

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

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	CASP10	p.Leu285Phe	VAR_014071	rs17860403

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Expression for Autoimmune Lymphoproliferative Syndrome, Type Iia

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

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Pathways for Autoimmune Lymphoproliferative Syndrome, Type Iia

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

#	Super pathways	Score	Top Affiliating Genes
1	Cell adhesion molecules (CAMs) ³⁶	11.63	CD8A CD4
2	Hematopoietic Stem Cells and Lineage-specific Markers ⁶⁴	11.5	CD8A CD4
3	S-1P Stimulated Signaling ⁶³	11.46	CD4 CASP10
4	IL12-mediated signaling events ¹ Show member pathways Immune response IL-12-induced IFN-gamma production ²²	11.46	CD8A CD4
5	TCR signaling in naive CD4+ T cells ¹ Show member pathways TCR signaling in naive CD8+ T cells ¹	11.4	CD8A CD4
6	Hematopoietic cell lineage ³⁶	11.32	CD8A CD4
7	Innate Lymphoid Cells Differentiation ⁶⁴	11.16	CD8A CD4
8	Dendritic Cells Developmental Lineage Pathway ⁶⁴	11.02	CD8A CD4
9	CTLA4 Signaling ⁶³	10.81	CD8A CD4
10	Primary immunodeficiency ³⁶	10.2	CD8A CD4

Sources

GO Terms for Autoimmune Lymphoproliferative Syndrome, Type Iia

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

#	Name	GO ID	Score	Top Affiliating Genes
1	T cell receptor complex	GO:0042101	8.62	CD8A CD4

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

#	Name	GO ID	Score	Top Affiliating Genes
1	positive regulation of I-kappaB kinase/NF-kappaB signaling	GO:0043123	9.26	CD4 CASP10
2	transmembrane receptor protein tyrosine kinase signaling pathway	GO:0007169	9.16	CD8A CD4
3	T cell activation	GO:0042110	8.96	CD8A CD4
4	cell surface receptor signaling pathway	GO:0007166	8.8	CD8A CD4 CASP10

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

#	Name	GO ID	Score	Top Affiliating Genes
1	coreceptor activity	GO:0015026	8.62	CD8A CD4

Sources

Sources for Autoimmune Lymphoproliferative Syndrome, Type Iia

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

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Autoimmune Lymphoproliferative Syndrome, Type Iia (ALPS2A)

Aliases & Classifications for Autoimmune Lymphoproliferative Syndrome, Type Iia

MalaCards integrated aliases for Autoimmune Lymphoproliferative Syndrome, Type Iia:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Autoimmune Lymphoproliferative Syndrome, Type Iia

Related Diseases for Autoimmune Lymphoproliferative Syndrome, Type Iia

Diseases in the Lymphoproliferative Syndrome family:

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

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

Symptoms & Phenotypes for Autoimmune Lymphoproliferative Syndrome, Type Iia

Human phenotypes related to Autoimmune Lymphoproliferative Syndrome, Type Iia:

Symptoms via clinical synopsis from OMIM:

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Drugs & Therapeutics for Autoimmune Lymphoproliferative Syndrome, Type Iia

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Genes related to Autoimmune Lymphoproliferative Syndrome, Type Iia (1 elite genes):

Variations for Autoimmune Lymphoproliferative Syndrome, Type Iia

ClinVar genetic disease variations for Autoimmune Lymphoproliferative Syndrome, Type Iia:

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

Expression for Autoimmune Lymphoproliferative Syndrome, Type Iia

Pathways for Autoimmune Lymphoproliferative Syndrome, Type Iia

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

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

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