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

MCID: ATM097 MIFTS: 30	Autoimmune Lymphoproliferative Syndrome, Type Iia Categories: Genetic diseases, Immune diseases, Rare diseases, Blood diseases, Gastrointestinal diseases
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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 ⁵⁷ ⁷³

Autoimmune Lymphoproliferative Syndrome, Type Ii ⁵⁷ ⁷⁵ ¹³ ⁵⁵

Alps2a ⁵⁷ ¹² ⁷⁵

Autoimmune Lymphoproliferative Syndrome Type Iia ¹² ⁷⁵

Autoimmune Lymphoproliferative Syndrome, Type 2a ²⁹ ⁶

Alps2 ⁵⁷ ⁷⁵

Autoimmune Lymphoproliferative Syndrome, Type Ii; Alps2 ⁵⁷

Autoimmune Lymphoproliferative Syndrome Type 2a ¹²

Autoimmune Lymphoproliferative Syndrome, Type 2 ⁴⁰

Autoimmune Lymphoproliferative Syndrome Type 2 ⁶

Autoimmune Lymphoproliferative Syndrome 2a ⁷⁵

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy or childhood

HPO:

³²

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

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³³

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:

OMIM ⁵⁷ 603909

Disease Ontology ¹² DOID:0110115

ICD10 ³³ D47.9

MedGen ⁴² C1858968

MeSH ⁴⁴ D056735

UMLS ⁷³ C1858968

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Summaries for Autoimmune Lymphoproliferative Syndrome, Type Iia

UniProtKB/Swiss-Prot : ⁷⁵ 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 autoimmune lymphoproliferative syndrome and arthritis. An important gene associated with Autoimmune Lymphoproliferative Syndrome, Type Iia is CASP10 (Caspase 10). Affiliated tissues include t cells, b cells and smooth muscle, and related phenotypes are splenomegaly and hepatomegaly

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

Description 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
Autoimmune Lymphoproliferative Syndrome Due to Ctla4 Haploinsuffiency	Autosomal Recessive Lymphoproliferative Disease

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

#	Related Disease	Score
1	autoimmune lymphoproliferative syndrome	9.9
2	arthritis	9.9
3	lymphoproliferative syndrome	9.9

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Symptoms & Phenotypes for Autoimmune Lymphoproliferative Syndrome, Type Iia

Symptoms via clinical synopsis from OMIM:

⁵⁷

AbdomenSpleen:
splenomegaly

Genitourinary Kidneys:
nephrotic syndrome
nephritis
membranous glomerulonephropathy

Skin Nails Hair Skin:
urticaria
malar rash
vasculitis rash

Laboratory Abnormalities:
rheumatoid factor positive
increased levels of igg
increased levels of iga
increased levels of igm
direct coombs positive
more

Abdomen Liver:
hepatomegaly

Hematology:
iron deficiency anemia
eosinophilia
autoimmune hemolytic anemia
autoimmune thrombocytopenia
autoimmune neutropenia

Immunology:
chronic noninfectious lymphadenopathy
defective lymphocyte apoptosis
increased number of peripheral cd3+ t cells
increased number of cd4-/cd8- t cells expressing alpha/beta t-cell receptors
increased proportion of hla dr+ and cd57+ t cells
more

Clinical features from OMIM:

603909

Human phenotypes related to Autoimmune Lymphoproliferative Syndrome, Type Iia:

³² (show all 29)

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

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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:

⁴¹

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

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Publications for Autoimmune Lymphoproliferative Syndrome, Type Iia

Articles related to Autoimmune Lymphoproliferative Syndrome, Type Iia:

#	Title	Authors	Year
1	Exonic deletion of CASP10 in a patient presenting with systemic juvenile idiopathic arthritis, but not with autoimmune lymphoproliferative syndrome type IIa. ( 21382177 )	Tadaki H....Matsumoto N.	2011
2	Revision of the diagnosis of T-zone lymphoma in the father of a patient with autoimmune lymphoproliferative syndrome type II. ( 10520011 )	van der Werff Ten Bosch J....Thielemans K.	1999
3	Inherited human caspase 10 mutations underlie defective lymphocyte and dendritic cell apoptosis in autoimmune lymphoproliferative syndrome type II. ( 10412980 )	Wang J....Lenardo M.J.	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	1320.91	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ Novoseek inferred ⁵⁵ GeneCards inferred via : Novoseek inferred (show sections)	20301287 10412980 27535533 (more) 16446975 10412980 11397650

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Variations for Autoimmune Lymphoproliferative Syndrome, Type Iia

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

⁷⁵

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

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

⁶

(show all 42)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	CASP10	NM_032977.3(CASP10): c.853C> T (p.Leu285Phe)	single nucleotide variant	Pathogenic	rs17860403	GRCh37	Chromosome 2, 202072837: 202072837
2	CASP10	NM_032977.3(CASP10): c.853C> T (p.Leu285Phe)	single nucleotide variant	Pathogenic	rs17860403	GRCh38	Chromosome 2, 201208114: 201208114
3	CASP10	NM_032977.3(CASP10): c.347+9G> T	single nucleotide variant	Benign	rs7608787	GRCh37	Chromosome 2, 202050856: 202050856
4	CASP10	NM_032977.3(CASP10): c.347+9G> T	single nucleotide variant	Benign	rs7608787	GRCh38	Chromosome 2, 201186133: 201186133
5	CASP10	NM_032977.3(CASP10): c.1216A> T (p.Ile406Leu)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs80358239	GRCh38	Chromosome 2, 201209363: 201209363
6	CASP10	NM_032977.3(CASP10): c.1216A> T (p.Ile406Leu)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs80358239	GRCh37	Chromosome 2, 202074086: 202074086
7	CASP10	NM_032977.3(CASP10): c.1347T> C (p.Phe449=)	single nucleotide variant	Likely benign	rs147814983	GRCh38	Chromosome 2, 201209494: 201209494
8	CASP10	NM_032977.3(CASP10): c.1347T> C (p.Phe449=)	single nucleotide variant	Likely benign	rs147814983	GRCh37	Chromosome 2, 202074217: 202074217
9	CASP10	NM_032977.3(CASP10): c.1415+8C> G	single nucleotide variant	Likely benign	rs200638628	GRCh38	Chromosome 2, 201209570: 201209570
10	CASP10	NM_032977.3(CASP10): c.1415+8C> G	single nucleotide variant	Likely benign	rs200638628	GRCh37	Chromosome 2, 202074293: 202074293
11	CASP10	NM_032977.3(CASP10): c.1502C> T (p.Pro501Leu)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs148939095	GRCh38	Chromosome 2, 201217674: 201217674
12	CASP10	NM_032977.3(CASP10): c.1502C> T (p.Pro501Leu)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs148939095	GRCh37	Chromosome 2, 202082397: 202082397
13	CASP10	NM_032977.3(CASP10): c.174C> T (p.Ala58=)	single nucleotide variant	Likely benign	rs114625983	GRCh37	Chromosome 2, 202050674: 202050674
14	CASP10	NM_032977.3(CASP10): c.174C> T (p.Ala58=)	single nucleotide variant	Likely benign	rs114625983	GRCh38	Chromosome 2, 201185951: 201185951
15	CASP10	NM_032977.3(CASP10): c.923-3C> T	single nucleotide variant	Benign	rs6753900	GRCh38	Chromosome 2, 201209067: 201209067
16	CASP10	NM_032977.3(CASP10): c.923-3C> T	single nucleotide variant	Benign	rs6753900	GRCh37	Chromosome 2, 202073790: 202073790
17	CASP10	NM_032977.3(CASP10): c.347+8C> T	single nucleotide variant	Likely benign	rs140246829	GRCh37	Chromosome 2, 202050855: 202050855
18	CASP10	NM_032977.3(CASP10): c.347+8C> T	single nucleotide variant	Likely benign	rs140246829	GRCh38	Chromosome 2, 201186132: 201186132
19	CASP10	NM_032977.3(CASP10): c.478G> A (p.Gly160Ser)	single nucleotide variant	Uncertain significance	rs781000749	GRCh38	Chromosome 2, 201193020: 201193020
20	CASP10	NM_032977.3(CASP10): c.478G> A (p.Gly160Ser)	single nucleotide variant	Uncertain significance	rs781000749	GRCh37	Chromosome 2, 202057743: 202057743
21	CASP10	NM_032977.3(CASP10): c.491A> C (p.Glu164Ala)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 2, 202057756: 202057756
22	CASP10	NM_032977.3(CASP10): c.491A> C (p.Glu164Ala)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 2, 201193033: 201193033
23	CASP10	NM_032977.3(CASP10): c.715A> T (p.Ser239Cys)	single nucleotide variant	Likely benign	rs41473647	GRCh38	Chromosome 2, 201203760: 201203760
24	CASP10	NM_032977.3(CASP10): c.715A> T (p.Ser239Cys)	single nucleotide variant	Likely benign	rs41473647	GRCh37	Chromosome 2, 202068483: 202068483
25	CASP10	NM_032977.3(CASP10): c.347+10G> T	single nucleotide variant	Likely benign	rs377184631	GRCh37	Chromosome 2, 202050857: 202050857
26	CASP10	NM_032977.3(CASP10): c.347+10G> T	single nucleotide variant	Likely benign	rs377184631	GRCh38	Chromosome 2, 201186134: 201186134
27	CASP10	NM_032977.3(CASP10): c.683C> T (p.Pro228Leu)	single nucleotide variant	Uncertain significance	rs143882052	GRCh38	Chromosome 2, 201195947: 201195947
28	CASP10	NM_032977.3(CASP10): c.683C> T (p.Pro228Leu)	single nucleotide variant	Uncertain significance	rs143882052	GRCh37	Chromosome 2, 202060670: 202060670
29	CASP10	NM_032977.3(CASP10): c.920C> A (p.Ala307Asp)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 2, 201208181: 201208181
30	CASP10	NM_032977.3(CASP10): c.920C> A (p.Ala307Asp)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 2, 202072904: 202072904
31	CASP10	NM_032977.3(CASP10): c.1068G> T (p.Leu356=)	single nucleotide variant	Benign	rs111489269	GRCh38	Chromosome 2, 201209215: 201209215
32	CASP10	NM_032977.3(CASP10): c.1068G> T (p.Leu356=)	single nucleotide variant	Benign	rs111489269	GRCh37	Chromosome 2, 202073938: 202073938
33	CASP10	NM_032977.3(CASP10): c.247C> G (p.Leu83Val)	single nucleotide variant	Uncertain significance	rs759913674	GRCh38	Chromosome 2, 201186024: 201186024
34	CASP10	NM_032977.3(CASP10): c.247C> G (p.Leu83Val)	single nucleotide variant	Uncertain significance	rs759913674	GRCh37	Chromosome 2, 202050747: 202050747
35	CASP10	NM_032977.3(CASP10): c.953G> A (p.Gly318Glu)	single nucleotide variant	Uncertain significance	rs138931498	GRCh37	Chromosome 2, 202073823: 202073823
36	CASP10	NM_032977.3(CASP10): c.953G> A (p.Gly318Glu)	single nucleotide variant	Uncertain significance	rs138931498	GRCh38	Chromosome 2, 201209100: 201209100
37	CASP10	NM_032977.3(CASP10): c.1093delT (p.Tyr365Thrfs)	deletion	Uncertain significance		GRCh38	Chromosome 2, 201209240: 201209240
38	CASP10	NM_032977.3(CASP10): c.1093delT (p.Tyr365Thrfs)	deletion	Uncertain significance		GRCh37	Chromosome 2, 202073963: 202073963
39	CASP10	NM_032977.3(CASP10): c.1202_1208delGCCAAGG (p.Cys401Leufs)	deletion	Uncertain significance		GRCh38	Chromosome 2, 201209349: 201209355
40	CASP10	NM_032977.3(CASP10): c.1202_1208delGCCAAGG (p.Cys401Leufs)	deletion	Uncertain significance		GRCh37	Chromosome 2, 202074072: 202074078
41	CASP10	NM_032977.3(CASP10): c.1296C> T (p.Ala432=)	single nucleotide variant	Benign	rs41331850	GRCh38	Chromosome 2, 201209443: 201209443
42	CASP10	NM_032977.3(CASP10): c.1296C> T (p.Ala432=)	single nucleotide variant	Benign	rs41331850	GRCh37	Chromosome 2, 202074166: 202074166

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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

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GO Terms for Autoimmune Lymphoproliferative Syndrome, Type Iia

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Sources for Autoimmune Lymphoproliferative Syndrome, Type Iia

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²⁰ GeneAnalytics

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²⁷ GEO DataSets

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³⁴ ICD10 via Orphanet

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⁴⁸ NCBI Bookshelf

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⁵⁵ Novoseek

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⁵⁷ OMIM

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⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

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⁶⁴ QIAGEN

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⁶⁸ SNOMED-CT

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⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

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⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia