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

UniProtKB/Swiss-Prot: ⁷³ 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 anemia, autoimmune hemolytic. An important gene associated with Autoimmune Lymphoproliferative Syndrome, Type Iia is CASP10 (Caspase 10), and among its related pathways/superpathways are T-cell activation SARS-CoV-2 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: ¹¹ 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	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 345)

#	Related Disease	Score	Top Affiliating Genes
1	exanthem	30.1	CD8A CD4
2	anemia, autoimmune hemolytic	30.1	CD8A CD4
3	autoimmune lymphoproliferative syndrome	29.7	CD8A CD4 CASP10
4	deficiency anemia	10.1
5	lymphoproliferative syndrome	10.1
6	pericarditis	10.1
7	juvenile rheumatoid arthritis	10.1
8	splenomegaly	10.1
9	systemic onset juvenile idiopathic arthritis	10.1
10	autoimmune hemolytic anemia, warm type	10.1
11	periodic fever, familial, autosomal dominant	10.1
12	lymphatic system disease	10.1
13	hilar lung neoplasm	9.9	CD8A CD4
14	oral tuberculosis	9.9	CD8A CD4
15	early yaws	9.9	CD8A CD4
16	ventilation pneumonitis	9.9	CD8A CD4
17	diffuse infiltrative lymphocytosis syndrome	9.9	CD8A CD4
18	wissler-fanconi syndrome	9.9	CD8A CD4
19	encephalitozoonosis	9.9	CD8A CD4
20	type 1 diabetes mellitus 23	9.9	CD8A CD4
21	cork-handlers' disease	9.9	CD8A CD4
22	follicular mucinosis	9.9	CD8A CD4
23	suppurative lymphadenitis	9.9	CD8A CD4
24	bird fancier's lung	9.9	CD8A CD4
25	parapsoriasis	9.9	CD8A CD4
26	primary syphilis	9.9	CD8A CD4
27	syphilis	9.9	CD8A CD4
28	granulomatous angiitis	9.9	CD8A CD4
29	primary cutaneous gamma-delta t-cell lymphoma	9.9	CD8A CD4
30	gastroduodenitis	9.9	CD8A CD4
31	duodenitis	9.9	CD8A CD4
32	thymic dysplasia	9.9	CD8A CD4
33	splenic abscess	9.9	CD8A CD4
34	mooren's ulcer	9.9	CD8A CD4
35	herpes simplex virus keratitis	9.9	CD8A CD4
36	granulomatous dermatitis	9.9	CD8A CD4
37	acute retinal necrosis syndrome	9.9	CD8A CD4
38	granulomatous hepatitis	9.9	CD8A CD4
39	norwegian scabies	9.9	CD8A CD4
40	scabies	9.9	CD8A CD4
41	orbital cellulitis	9.9	CD8A CD4
42	cellulitis	9.9	CD8A CD4
43	acute orbital inflammation	9.9	CD8A CD4
44	viral exanthem	9.9	CD8A CD4
45	tertiary syphilis	9.9	CD8A CD4
46	spongiotic dermatitis	9.9	CD8A CD4
47	cerebritis	9.9	CD8A CD4
48	skin sarcoidosis	9.9	CD8A CD4
49	metal allergy	9.9	CD8A CD4
50	autoimmune peripheral neuropathy	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:

³⁰ (show all 34)

#	Description	HPO Frequency	HPO Source Accession
1	splenomegaly ³⁰	Very rare (1%)	HP:0001744
2	hepatomegaly ³⁰	Very rare (1%)	HP:0002240
3	lymphadenopathy ³⁰	Very rare (1%)	HP:0002716
4	elevated erythrocyte sedimentation rate ³⁰	Very rare (1%)	HP:0003565
5	autoimmune hemolytic anemia ³⁰	Very rare (1%)	HP:0001890
6	rheumatoid factor positive ³⁰	Very rare (1%)	HP:0002923
7	elevated proportion of cd4-negative, cd8-negative, alpha-beta regulatory t cells ³⁰	Very rare (1%)	HP:0002851
8	thrombocytopenia ³⁰		HP:0001873
9	nephrotic syndrome ³⁰		HP:0000100
10	gastrointestinal hemorrhage ³⁰		HP:0002239
11	petechiae ³⁰		HP:0000967
12	urticaria ³⁰		HP:0001025
13	vasculitis ³⁰		HP:0002633
14	eosinophilia ³⁰		HP:0001880
15	iron deficiency anemia ³⁰		HP:0001891
16	follicular hyperplasia ³⁰		HP:0002729
17	increased circulating iga level ³⁰		HP:0003261
18	antiphospholipid antibody positivity ³⁰		HP:0003613
19	autoimmune thrombocytopenia ³⁰		HP:0001973
20	increased circulating igm level ³⁰		HP:0003496
21	coombs-positive hemolytic anemia ³⁰		HP:0004844
22	neutropenia in presence of anti-neutropil antibodies ³⁰		HP:0001904
23	antinuclear antibody positivity ³⁰		HP:0003493
24	increased circulating igg level ³⁰		HP:0003237
25	nephritis ³⁰		HP:0000123
26	chronic noninfectious lymphadenopathy ³⁰		HP:0002730
27	malar rash ³⁰		HP:0025300
28	smooth muscle antibody positivity ³⁰		HP:0003262
29	antineutrophil antibody positivity ³⁰		HP:0003453
30	increased b cell count ³⁰		HP:0005404
31	increased proportion of hla dr+ t cells ³⁰		HP:0002853
32	platelet antibody positive ³⁰		HP:0003454
33	reduced delayed hypersensitivity ³⁰		HP:0002972
34	decreased lymphocyte apoptosis ³⁰		HP:0002731

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Abdomen Spleen:
splenomegaly

Genitourinary Kidneys:
nephrotic syndrome
nephritis
membranous glomerulonephropathy

Hematology:
eosinophilia
iron deficiency anemia
autoimmune hemolytic anemia
autoimmune thrombocytopenia
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

Skin Nails Hair Skin:
urticaria
malar rash
vasculitis rash

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 (Updated 08-Dec-2022)

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Drugs & Therapeutics for Autoimmune Lymphoproliferative Syndrome, Type Iia

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

Cochrane evidence based reviews: 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 ²⁸	CASP10

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Anatomical Context for Autoimmune Lymphoproliferative Syndrome, Type Iia

Organs/tissues related to Autoimmune Lymphoproliferative Syndrome, Type Iia:

MalaCards : T Cells, Smooth Muscle, B Cells, 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. ⁵³ ⁶² ⁵⁷ ⁵	Wang J...Lenardo MJ	10412980	1999
2	Genetic alterations in caspase-10 may be causative or protective in autoimmune lymphoproliferative syndrome. ⁵⁷	Zhu S...Puck JM	16446975	2006
3	Clincal, immunologic, and genetic features of an autoimmune lymphoproliferative syndrome associated with abnormal lymphocyte apoptosis. ⁵⁷	Sneller MC...Straus SE	9028957	1997
4	Mutations in apoptosis genes: a pathogenetic factor for human disease. ⁵³ ⁶²	Mullauer L...Chott A	11397650	2001
5	Sensing membrane stresses by protein insertions. ⁶²	Campelo F...Kozlov MM	24722359	2014
6	Exonic deletion of CASP10 in a patient presenting with systemic juvenile idiopathic arthritis, but not with autoimmune lymphoproliferative syndrome type IIa. ⁶²	Tadaki H...Matsumoto N	21382177	2011
7	Two lipid-packing sensor motifs contribute to the sensitivity of ArfGAP1 to membrane curvature. ⁶²	Mesmin B...Antonny B	17253781	2007
8	Revision of the diagnosis of T-zone lymphoma in the father of a patient with autoimmune lymphoproliferative syndrome type II. ⁶²	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. ⁶²	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	PubMed IDs
1	CASP10	Caspase 10	Protein Coding	1310.91	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ Genetic Tests ²⁸ Novoseek inferred ⁵³	10412980 11397650
2	CD8A	CD8a Molecule	Protein Coding	3.06	DISEASES inferred ¹⁴
3	CD4	CD4 Molecule	Protein Coding	2.95	DISEASES inferred ¹⁴

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Variations for Autoimmune Lymphoproliferative Syndrome, Type Iia

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

⁵ (show top 50) (show all 310)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	CASP10	NM_032977.4(CASP10):c.1504del (p.Gln502fs)	DEL	Pathogenic	1685600		GRCh37: 2:202082396-202082396 GRCh38: 2:201217673-201217673
2	CASP10	NM_032977.4(CASP10):c.442-14T>G	SNV	Conflicting Interpretations Of Pathogenicity	895421	rs755555484	GRCh37: 2:202057693-202057693 GRCh38: 2:201192970-201192970
3	CASP10	NM_032977.4(CASP10):c.913A>G (p.Lys305Glu)	SNV	Conflicting Interpretations Of Pathogenicity	897316	rs149912574	GRCh37: 2:202072897-202072897 GRCh38: 2:201208174-201208174
4	CASP10	NM_032977.4(CASP10):c.879C>A (p.Ser293Arg)	SNV	Conflicting Interpretations Of Pathogenicity	333431	rs369897442	GRCh37: 2:202072863-202072863 GRCh38: 2:201208140-201208140
5	CASP10	NM_032977.4(CASP10):c.1466G>A (p.Arg489Gln)	SNV	Conflicting Interpretations Of Pathogenicity	333440	rs535121774	GRCh37: 2:202082361-202082361 GRCh38: 2:201217638-201217638
6	CASP10	NM_032977.4(CASP10):c.534A>G (p.Val178=)	SNV	Conflicting Interpretations Of Pathogenicity	333424	rs146233833	GRCh37: 2:202057799-202057799 GRCh38: 2:201193076-201193076
7	CASP10	NM_032977.4(CASP10):c.20A>G (p.His7Arg)	SNV	Conflicting Interpretations Of Pathogenicity	333415	rs200935960	GRCh37: 2:202050520-202050520 GRCh38: 2:201185797-201185797
8	CASP10	NM_032977.4(CASP10):c.502A>G (p.Thr168Ala)	SNV	Uncertain Significance	895424	rs371962581	GRCh37: 2:202057767-202057767 GRCh38: 2:201193044-201193044
9	CASP10	NM_032977.4(CASP10):c.507C>G (p.Cys169Trp)	SNV	Uncertain Significance	565644	rs774005416	GRCh37: 2:202057772-202057772 GRCh38: 2:201193049-201193049
10	CASP10	NM_032977.3(CASP10):c.-314G>A	SNV	Uncertain Significance	896762	rs1284865224	GRCh37: 2:202047725-202047725 GRCh38: 2:201183002-201183002
11	CASP10	NM_032977.4(CASP10):c.620C>T (p.Ser207Leu)	SNV	Uncertain Significance	653604	rs770997816	GRCh37: 2:202060607-202060607 GRCh38: 2:201195884-201195884
12	CASP10	NM_032977.4(CASP10):c.1567T>C (p.Ter523Gln)	SNV	Uncertain Significance	504411	rs1465277007	GRCh37: 2:202082462-202082462 GRCh38: 2:201217739-201217739
13	CASP10	NM_032977.4(CASP10):c.1093del (p.Tyr365fs)	DEL	Uncertain Significance	535756	rs781003519	GRCh37: 2:202073963-202073963 GRCh38: 2:201209240-201209240
14	CASP10	NM_032977.4(CASP10):c.920C>A (p.Ala307Asp)	SNV	Uncertain Significance	535757	rs1291372845	GRCh37: 2:202072904-202072904 GRCh38: 2:201208181-201208181
15	CASP10	NM_032977.4(CASP10):c.953G>A (p.Gly318Glu)	SNV	Uncertain Significance	535758	rs138931498	GRCh37: 2:202073823-202073823 GRCh38: 2:201209100-201209100
16	CASP10	NM_032977.4(CASP10):c.247C>G (p.Leu83Val)	SNV	Uncertain Significance	535759	rs759913674	GRCh37: 2:202050747-202050747 GRCh38: 2:201186024-201186024
17	CASP10	NM_032977.4(CASP10):c.1202_1208del (p.Cys401fs)	DEL	Uncertain Significance	535760	rs747900630	GRCh37: 2:202074072-202074078 GRCh38: 2:201209349-201209355
18	CASP10	NM_032977.4(CASP10):c.683C>T (p.Pro228Leu)	SNV	Uncertain Significance	535761	rs143882052	GRCh37: 2:202060670-202060670 GRCh38: 2:201195947-201195947
19	CASP10	NM_032977.4(CASP10):c.791T>C (p.Leu264Pro)	SNV	Uncertain Significance	1715592		GRCh37: 2:202070674-202070674 GRCh38: 2:201205951-201205951
20	CASP10	NM_032977.4(CASP10):c.1376T>G (p.Ile459Ser)	SNV	Uncertain Significance	1715731		GRCh37: 2:202074246-202074246 GRCh38: 2:201209523-201209523
21	CASP10	NM_032977.4(CASP10):c.584A>G (p.Gln195Arg)	SNV	Uncertain Significance	1721609		GRCh37: 2:202060571-202060571 GRCh38: 2:201195848-201195848
22	CASP10	NM_032977.4(CASP10):c.924G>C (p.Glu308Asp)	SNV	Uncertain Significance	1719862		GRCh37: 2:202073794-202073794 GRCh38: 2:201209071-201209071
23	CASP10	NM_032977.4(CASP10):c.853C>T (p.Leu285Phe)	SNV	Uncertain Significance	7764	rs17860403	GRCh37: 2:202072837-202072837 GRCh38: 2:201208114-201208114
24	CASP10	NM_032977.4(CASP10):c.325C>T (p.Arg109Ter)	SNV	Uncertain Significance	801852	rs201601111	GRCh37: 2:202050825-202050825 GRCh38: 2:201186102-201186102
25	CASP10	NC_000002.12:g.(?_201192964)_(201193139_?)dup	DUP	Uncertain Significance	833232		GRCh37: 2:202057687-202057862 GRCh38:
26	CASP10	NC_000002.12:g.(?_201185758)_(201229103_?)dup	DUP	Uncertain Significance	833235		GRCh37: 2:202050481-202093826 GRCh38:
27	CASP10	NM_032977.4(CASP10):c.786C>G (p.Asn262Lys)	SNV	Uncertain Significance	835257	rs368675766	GRCh37: 2:202070669-202070669 GRCh38: 2:201205946-201205946
28	CASP10	NM_032977.4(CASP10):c.208C>G (p.Leu70Val)	SNV	Uncertain Significance	838561	rs1944402071	GRCh37: 2:202050708-202050708 GRCh38: 2:201185985-201185985
29	CASP10	NM_032977.4(CASP10):c.142C>T (p.Pro48Ser)	SNV	Uncertain Significance	839357	rs200012872	GRCh37: 2:202050642-202050642 GRCh38: 2:201185919-201185919
30	CASP10	NM_032977.4(CASP10):c.554T>G (p.Ile185Arg)	SNV	Uncertain Significance	840409	rs753049035	GRCh37: 2:202057819-202057819 GRCh38: 2:201193096-201193096
31	CASP10	NM_032977.4(CASP10):c.733A>C (p.Thr245Pro)	SNV	Uncertain Significance	844627	rs1312829146	GRCh37: 2:202070616-202070616 GRCh38: 2:201205893-201205893
32	CASP10	NM_032977.4(CASP10):c.802A>C (p.Thr268Pro)	SNV	Uncertain Significance	847605	rs770921459	GRCh37: 2:202070685-202070685 GRCh38: 2:201205962-201205962
33	CASP10	NM_032977.4(CASP10):c.797C>T (p.Ser266Phe)	SNV	Uncertain Significance	849666	rs148554420	GRCh37: 2:202070680-202070680 GRCh38: 2:201205957-201205957
34	CASP10	NM_032977.4(CASP10):c.1415+1G>A	SNV	Uncertain Significance	851636	rs757635087	GRCh37: 2:202074286-202074286 GRCh38: 2:201209563-201209563
35	CASP10	NM_032977.4(CASP10):c.136T>G (p.Leu46Val)	SNV	Uncertain Significance	854034	rs1047225163	GRCh37: 2:202050636-202050636 GRCh38: 2:201185913-201185913
36	CASP10	NM_032977.4(CASP10):c.553A>G (p.Ile185Val)	SNV	Uncertain Significance	857497	rs369231920	GRCh37: 2:202057818-202057818 GRCh38: 2:201193095-201193095
37	CASP10	NM_032977.4(CASP10):c.1288A>T (p.Ile430Phe)	SNV	Uncertain Significance	860550	rs762718326	GRCh37: 2:202074158-202074158 GRCh38: 2:201209435-201209435
38	CASP10	NM_032977.4(CASP10):c.1207G>C (p.Gly403Arg)	SNV	Uncertain Significance	935213	rs916343393	GRCh37: 2:202074077-202074077 GRCh38: 2:201209354-201209354
39	CASP10	NM_032977.4(CASP10):c.146A>G (p.Asn49Ser)	SNV	Uncertain Significance	936365	rs559658034	GRCh37: 2:202050646-202050646 GRCh38: 2:201185923-201185923
40	CASP10	NM_032977.4(CASP10):c.887C>T (p.Ser296Phe)	SNV	Uncertain Significance	942107	rs146654699	GRCh37: 2:202072871-202072871 GRCh38: 2:201208148-201208148
41	CASP10	NM_032977.4(CASP10):c.577+3A>G	SNV	Uncertain Significance	947590	rs780947440	GRCh37: 2:202057845-202057845 GRCh38: 2:201193122-201193122
42	CASP10	NM_032977.4(CASP10):c.1226C>A (p.Ser409Tyr)	SNV	Uncertain Significance	947840	rs1409279830	GRCh37: 2:202074096-202074096 GRCh38: 2:201209373-201209373
43	CASP10	NM_032977.4(CASP10):c.554T>C (p.Ile185Thr)	SNV	Uncertain Significance	948684	rs753049035	GRCh37: 2:202057819-202057819 GRCh38: 2:201193096-201193096
44	CASP10	NM_032977.4(CASP10):c.809C>A (p.Thr270Lys)	SNV	Uncertain Significance	949533	rs1945189904	GRCh37: 2:202070692-202070692 GRCh38: 2:201205969-201205969
45	CASP10	NM_032977.4(CASP10):c.477del (p.Gly160fs)	DEL	Uncertain Significance	953582	rs766461320	GRCh37: 2:202057741-202057741 GRCh38: 2:201193018-201193018
46	CASP10	NM_032977.4(CASP10):c.1537T>C (p.Phe513Leu)	SNV	Uncertain Significance	953712	rs143632134	GRCh37: 2:202082432-202082432 GRCh38: 2:201217709-201217709
47	CASP10	NM_032977.4(CASP10):c.1416-3C>A	SNV	Uncertain Significance	954828	rs1945611761	GRCh37: 2:202082308-202082308 GRCh38: 2:201217585-201217585
48	CASP10	NM_032977.4(CASP10):c.1418A>G (p.His473Arg)	SNV	Uncertain Significance	958661	rs538186121	GRCh37: 2:202082313-202082313 GRCh38: 2:201217590-201217590
49	CASP10	NM_032977.4(CASP10):c.838C>T (p.Arg280Trp)	SNV	Uncertain Significance	961874	rs1351292534	GRCh37: 2:202072822-202072822 GRCh38: 2:201208099-201208099
50	CASP10	NM_032977.4(CASP10):c.555A>G (p.Ile185Met)	SNV	Uncertain Significance	962796	rs758869726	GRCh37: 2:202057820-202057820 GRCh38: 2:201193097-201193097

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	T-cell activation SARS-CoV-2 ⁷⁴ Show member pathways T-cell antigen receptor (TCR) pathway during Staphylococcus aureus infection ⁷⁴	11.59	CD8A CD4
2	Hematopoietic Stem Cells and Lineage-specific Markers ⁶⁵	11.39	CD8A CD4
3	S-1P Stimulated Signaling ⁶⁴	11.35	CD4 CASP10
4	IL12-mediated signaling events ⁶¹ Show member pathways Immune response IL-12-induced IFN-gamma production ²²	11.3	CD8A CD4
5	Innate Lymphoid Cells Differentiation ⁶⁵	11.06	CD8A CD4
6	Network map of SARS-CoV-2 signaling pathway ⁷⁴ Show member pathways Pathogenesis of SARS-CoV-2 mediated by nsp9-nsp10 complex ⁷⁴	10.84	CD8A CD4
7	Dendritic Cells Developmental Lineage Pathway ⁶⁵	10.49	CD8A CD4

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GO Terms for Autoimmune Lymphoproliferative Syndrome, Type Iia

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

#	Name	GO ID	Score	Top Affiliating Genes
1	T cell activation	GO:0042110	8.92	CD8A CD4

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	8.92	CD8A CD4

Sources

Sources for Autoimmune Lymphoproliferative Syndrome, Type Iia

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

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³⁹ MalaCards

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ALPS2A MCID: ATM097 MIFTS: 43	Autoimmune Lymphoproliferative Syndrome, Type Iia (ALPS2A) Categories: Blood diseases, Cancer diseases, Genetic diseases, Immune diseases, Infectious diseases, Nephrological diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
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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:

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OMIM®:

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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

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Cochrane evidence based reviews: autoimmune lymphoproliferative syndrome, type iia

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