Lymphoproliferative Syndrome 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

LPFS1 MCID: LYM106 MIFTS: 31	Lymphoproliferative Syndrome 1 (LPFS1) Categories: Blood diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Rare diseases
Genes Variations Tissues Related diseases Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Lymphoproliferative Syndrome 1

MalaCards integrated aliases for Lymphoproliferative Syndrome 1:

Name: Lymphoproliferative Syndrome 1 ⁵⁷ ¹² ⁷⁵ ³⁷ ²⁹ ¹³ ⁶ ⁷³

Lpfs1 ⁵⁷ ¹² ⁷⁵

Lymphoproliferative Syndrome, Ebv-Associated, Autosomal, 1 ⁷⁵ ⁴⁰

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal recessive

Miscellaneous:
onset in childhood
fatal without bone marrow transplantation

HPO:

³²

lymphoproliferative syndrome 1:
Onset and clinical course juvenile onset
Inheritance autosomal recessive 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 613011

Disease Ontology ¹² DOID:0060707

ICD10 ³³ D47.9

MedGen ⁴² C3552634 C2751686

MeSH ⁴⁴ D008232

KEGG ³⁷ H01970

UMLS ⁷³ C3552634

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Summaries for Lymphoproliferative Syndrome 1

OMIM : ⁵⁷ Lymphoproliferative syndrome-1 is an autosomal recessive primary immunodeficiency characterized by onset in early childhood of Epstein-Barr virus (EBV)-associated immune dysregulation, manifest as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and/or hypogammaglobulinemia. Autoimmune disorders, such as autoimmune hemolytic anemia or renal disease, may also occur. Patients show a high EBV viral load and decreased invariant natural killer T cells. It is unknown whether patients with ITK mutations are intrinsically susceptible to development of lymphoma or dysgammaglobulinemia in the absence of EBV infection (summary by Stepensky et al., 2011; Linka et al., 2012). For a discussion of genetic heterogeneity of lymphoproliferative syndrome, see XLP1 (308240). (613011)

MalaCards based summary : Lymphoproliferative Syndrome 1, also known as lpfs1, is related to lymphoproliferative syndrome, x-linked, 1 and lymphoproliferative syndrome. An important gene associated with Lymphoproliferative Syndrome 1 is ITK (IL2 Inducible T Cell Kinase), and among its related pathways/superpathways are T cell receptor signaling pathway and NF-kappaB Signaling. Affiliated tissues include t cells, bone and liver, and related phenotypes are splenomegaly and hepatomegaly

Disease Ontology : ¹² A lymphoproliferative syndrome characterized by autosomal recessive inheritance, early childhood onset of Epstein-Barr virus-associated immune dysregulation typically manifesting as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and-or hypogammaglobulinemia and that has material basis in homozygous mutation in the ITK gene on chromosome 5q32.

UniProtKB/Swiss-Prot : ⁷⁵ Lymphoproliferative syndrome 1: A rare immunodeficiency characterized by extreme susceptibility to infection with Epstein-Barr virus (EBV). Inadequate immune response to EBV can have a fatal outcome. Clinical features include splenomegaly, lymphadenopathy, anemia, thrombocytopenia, pancytopenia, recurrent infections. There is an increased risk for lymphoma.

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Related Diseases for Lymphoproliferative Syndrome 1

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 Lymphoproliferative Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	lymphoproliferative syndrome, x-linked, 1	11.4
2	lymphoproliferative syndrome	9.8	ITK SH2D1A
3	selective immunoglobulin deficiency disease	9.8	ITK SH2D1A
4	agammaglobulinemia, x-linked	9.8	ITK SH2D1A
5	hemophagocytic lymphohistiocytosis	9.7	ITK SH2D1A

Graphical network of the top 20 diseases related to Lymphoproliferative Syndrome 1:

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Symptoms & Phenotypes for Lymphoproliferative Syndrome 1

Symptoms via clinical synopsis from OMIM:

⁵⁷

Abdomen Spleen:
splenomegaly

Hematology:
anemia
pancytopenia
thrombocytopenia

Laboratory Abnormalities:
elevated erythrocyte sedimentation rate (esr)
increased c-reactive protein
high ebv viral load

Abdomen Liver:
hepatomegaly
impaired liver function

Immunology:
recurrent infections
lymphadenopathy
autoimmune disorders
hypogammaglobulinemia
mononucleosis
more

Neoplasia:
increased risk for lymphoma hodgkin disease

Clinical features from OMIM:

613011

Human phenotypes related to Lymphoproliferative Syndrome 1:

³² (show all 13)

#	Description	HPO Source Accession
1	splenomegaly ³²	HP:0001744
2	hepatomegaly ³²	HP:0002240
3	anemia ³²	HP:0001903
4	pancytopenia ³²	HP:0001876
5	autoimmunity ³²	HP:0002960
6	thrombocytopenia ³²	HP:0001873
7	recurrent infections ³²	HP:0002719
8	lymphoma ³²	HP:0002665
9	lymphadenopathy ³²	HP:0002716
10	igg deficiency ³²	HP:0004315
11	recurrent aphthous stomatitis ³²	HP:0011107
12	elevated erythrocyte sedimentation rate ³²	HP:0003565
13	stomatitis ³²	HP:0010280

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Drugs & Therapeutics for Lymphoproliferative Syndrome 1

Search Clinical Trials , NIH Clinical Center for Lymphoproliferative Syndrome 1

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Genetic Tests for Lymphoproliferative Syndrome 1

Genetic tests related to Lymphoproliferative Syndrome 1:

#	Genetic test	Affiliating Genes
1	Lymphoproliferative Syndrome 1 ²⁹	ITK

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Anatomical Context for Lymphoproliferative Syndrome 1

MalaCards organs/tissues related to Lymphoproliferative Syndrome 1:

⁴¹

T Cells, Bone, Liver, B Cells, Bone Marrow

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Publications for Lymphoproliferative Syndrome 1

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Genes for Lymphoproliferative Syndrome 1

Genes related to Lymphoproliferative Syndrome 1 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	ITK	IL2 Inducible T Cell Kinase	Protein Coding	1328.13	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	19425169 22289921 21109689
2	SH2D1A	SH2 Domain Containing 1A	Protein Coding	18.42	GeneCards inferred via : Variants (show sections)

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Variations for Lymphoproliferative Syndrome 1

UniProtKB/Swiss-Prot genetic disease variations for Lymphoproliferative Syndrome 1:

⁷⁵

#	Symbol	AA change	Variation ID	SNP ID
1	ITK	p.Arg335Trp	VAR_063424	rs121908191

ClinVar genetic disease variations for Lymphoproliferative Syndrome 1:

⁶ (show all 48)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	ITK	NM_005546.3(ITK): c.1003C> T (p.Arg335Trp)	single nucleotide variant	Pathogenic	rs121908191	GRCh37	Chromosome 5, 156668673: 156668673
2	ITK	NM_005546.3(ITK): c.1003C> T (p.Arg335Trp)	single nucleotide variant	Pathogenic	rs121908191	GRCh38	Chromosome 5, 157241663: 157241663
3	ITK	NM_005546.3(ITK): c.1764C> G (p.Tyr588Ter)	single nucleotide variant	Pathogenic	rs397514260	GRCh37	Chromosome 5, 156675990: 156675990
4	ITK	NM_005546.3(ITK): c.1764C> G (p.Tyr588Ter)	single nucleotide variant	Pathogenic	rs397514260	GRCh38	Chromosome 5, 157248980: 157248980
5	ITK	NM_005546.3(ITK): c.86G> A (p.Arg29His)	single nucleotide variant	Pathogenic	rs397514261	GRCh37	Chromosome 5, 156608074: 156608074
6	ITK	NM_005546.3(ITK): c.86G> A (p.Arg29His)	single nucleotide variant	Pathogenic	rs397514261	GRCh38	Chromosome 5, 157181063: 157181063
7	ITK	NM_005546.3(ITK): c.237G> A (p.Pro79=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs201403794	GRCh37	Chromosome 5, 156635998: 156635998
8	ITK	NM_005546.3(ITK): c.237G> A (p.Pro79=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs201403794	GRCh38	Chromosome 5, 157208987: 157208987
9	ITK	NM_005546.3(ITK): c.769-13C> T	single nucleotide variant	Benign/Likely benign	rs56100638	GRCh37	Chromosome 5, 156665106: 156665106
10	ITK	NM_005546.3(ITK): c.769-13C> T	single nucleotide variant	Benign/Likely benign	rs56100638	GRCh38	Chromosome 5, 157238096: 157238096
11	ITK	NM_005546.3(ITK): c.1741C> T (p.Arg581Trp)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs34482255	GRCh38	Chromosome 5, 157248957: 157248957
12	ITK	NM_005546.3(ITK): c.1741C> T (p.Arg581Trp)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs34482255	GRCh37	Chromosome 5, 156675967: 156675967
13	ITK	NM_005546.3(ITK): c.578G> A (p.Arg193Gln)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs17054374	GRCh37	Chromosome 5, 156649955: 156649955
14	ITK	NM_005546.3(ITK): c.578G> A (p.Arg193Gln)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs17054374	GRCh38	Chromosome 5, 157222945: 157222945
15	ITK	NM_005546.3(ITK): c.769-10A> T	single nucleotide variant	Benign/Likely benign	rs55646940	GRCh37	Chromosome 5, 156665109: 156665109
16	ITK	NM_005546.3(ITK): c.769-10A> T	single nucleotide variant	Benign/Likely benign	rs55646940	GRCh38	Chromosome 5, 157238099: 157238099
17	ITK	NM_005546.3(ITK): c.1455C> T (p.Ala485=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs201568204	GRCh38	Chromosome 5, 157245731: 157245731
18	ITK	NM_005546.3(ITK): c.1455C> T (p.Ala485=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs201568204	GRCh37	Chromosome 5, 156672741: 156672741
19	ITK	NM_005546.3(ITK): c.1492G> T (p.Val498Leu)	single nucleotide variant	Uncertain significance	rs758820629	GRCh38	Chromosome 5, 157245768: 157245768
20	ITK	NM_005546.3(ITK): c.1492G> T (p.Val498Leu)	single nucleotide variant	Uncertain significance	rs758820629	GRCh37	Chromosome 5, 156672778: 156672778
21	ITK	NM_005546.3(ITK): c.1715G> A (p.Ser572Asn)	single nucleotide variant	Uncertain significance	rs140542010	GRCh37	Chromosome 5, 156675941: 156675941
22	ITK	NM_005546.3(ITK): c.1715G> A (p.Ser572Asn)	single nucleotide variant	Uncertain significance	rs140542010	GRCh38	Chromosome 5, 157248931: 157248931
23	ITK	NM_005546.3(ITK): c.1759G> A (p.Val587Ile)	single nucleotide variant	Benign/Likely benign	rs56005928	GRCh38	Chromosome 5, 157248975: 157248975
24	ITK	NM_005546.3(ITK): c.1759G> A (p.Val587Ile)	single nucleotide variant	Benign/Likely benign	rs56005928	GRCh37	Chromosome 5, 156675985: 156675985
25	ITK	NM_005546.3(ITK): c.767C> T (p.Thr256Ile)	single nucleotide variant	Uncertain significance	rs115751349	GRCh38	Chromosome 5, 157232393: 157232393
26	ITK	NM_005546.3(ITK): c.767C> T (p.Thr256Ile)	single nucleotide variant	Uncertain significance	rs115751349	GRCh37	Chromosome 5, 156659403: 156659403
27	ITK	NM_005546.3(ITK): c.1829G> A (p.Arg610His)	single nucleotide variant	Uncertain significance	rs138438785	GRCh38	Chromosome 5, 157252644: 157252644
28	ITK	NM_005546.3(ITK): c.1829G> A (p.Arg610His)	single nucleotide variant	Uncertain significance	rs138438785	GRCh37	Chromosome 5, 156679654: 156679654
29	ITK	NM_005546.3(ITK): c.1398G> T (p.Val466=)	single nucleotide variant	Benign	rs17595896	GRCh38	Chromosome 5, 157244427: 157244427
30	ITK	NM_005546.3(ITK): c.1398G> T (p.Val466=)	single nucleotide variant	Benign	rs17595896	GRCh37	Chromosome 5, 156671437: 156671437
31	ITK	NM_005546.3(ITK): c.631G> C (p.Val211Leu)	single nucleotide variant	Uncertain significance	rs142038079	GRCh38	Chromosome 5, 157222998: 157222998
32	ITK	NM_005546.3(ITK): c.631G> C (p.Val211Leu)	single nucleotide variant	Uncertain significance	rs142038079	GRCh37	Chromosome 5, 156650008: 156650008
33	ITK	NM_005546.3(ITK): c.725A> G (p.Lys242Arg)	single nucleotide variant	Uncertain significance	rs761513530	GRCh38	Chromosome 5, 157232351: 157232351
34	ITK	NM_005546.3(ITK): c.725A> G (p.Lys242Arg)	single nucleotide variant	Uncertain significance	rs761513530	GRCh37	Chromosome 5, 156659361: 156659361
35	ITK	NM_005546.3(ITK): c.1510A> T (p.Thr504Ser)	single nucleotide variant	Uncertain significance	rs151046132	GRCh38	Chromosome 5, 157245786: 157245786
36	ITK	NM_005546.3(ITK): c.1510A> T (p.Thr504Ser)	single nucleotide variant	Uncertain significance	rs151046132	GRCh37	Chromosome 5, 156672796: 156672796
37	ITK	NM_005546.3(ITK): c.1351C> T (p.Arg451Trp)	single nucleotide variant	Uncertain significance	rs200331133	GRCh38	Chromosome 5, 157244380: 157244380
38	ITK	NM_005546.3(ITK): c.1351C> T (p.Arg451Trp)	single nucleotide variant	Uncertain significance	rs200331133	GRCh37	Chromosome 5, 156671390: 156671390
39	ITK	NM_005546.3(ITK): c.1153A> G (p.Lys385Glu)	single nucleotide variant	Uncertain significance	rs767083015	GRCh37	Chromosome 5, 156670725: 156670725
40	ITK	NM_005546.3(ITK): c.1153A> G (p.Lys385Glu)	single nucleotide variant	Uncertain significance	rs767083015	GRCh38	Chromosome 5, 157243715: 157243715
41	ITK	NM_005546.3(ITK): c.1685G> A (p.Arg562Gln)	single nucleotide variant	Uncertain significance	rs142618425	GRCh37	Chromosome 5, 156675911: 156675911
42	ITK	NM_005546.3(ITK): c.1685G> A (p.Arg562Gln)	single nucleotide variant	Uncertain significance	rs142618425	GRCh38	Chromosome 5, 157248901: 157248901
43	ITK	NM_005546.3(ITK): c.1343G> A (p.Arg448His)	single nucleotide variant	Uncertain significance	rs144735141	GRCh38	Chromosome 5, 157244372: 157244372
44	ITK	NM_005546.3(ITK): c.1343G> A (p.Arg448His)	single nucleotide variant	Uncertain significance	rs144735141	GRCh37	Chromosome 5, 156671382: 156671382
45	ITK	NM_005546.3(ITK): c.1658G> A (p.Ser553Asn)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 5, 156675884: 156675884
46	ITK	NM_005546.3(ITK): c.1658G> A (p.Ser553Asn)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 5, 157248874: 157248874
47	ITK	NM_005546.3(ITK): c.539A> G (p.Tyr180Cys)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 5, 157222906: 157222906
48	ITK	NM_005546.3(ITK): c.539A> G (p.Tyr180Cys)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 5, 156649916: 156649916

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Expression for Lymphoproliferative Syndrome 1

Search GEO for disease gene expression data for Lymphoproliferative Syndrome 1.

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Pathways for Lymphoproliferative Syndrome 1

Pathways related to Lymphoproliferative Syndrome 1 according to KEGG:

³⁷

#	Name	Kegg Source Accession
1	T cell receptor signaling pathway	hsa04660

Pathways related to Lymphoproliferative Syndrome 1 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	NF-kappaB Signaling ⁴	11.47	ITK SH2D1A
2	Tyrosine Kinases / Adaptors ⁴	10.79	ITK SH2D1A

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GO Terms for Lymphoproliferative Syndrome 1

Biological processes related to Lymphoproliferative Syndrome 1 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	immune system process	GO:0002376	9.16	ITK SH2D1A
2	adaptive immune response	GO:0002250	8.96	ITK SH2D1A
3	cellular defense response	GO:0006968	8.62	ITK SH2D1A

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Sources for Lymphoproliferative Syndrome 1

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

Lymphoproliferative Syndrome 1 (LPFS1)

Aliases & Classifications for Lymphoproliferative Syndrome 1

MalaCards integrated aliases for Lymphoproliferative Syndrome 1:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Lymphoproliferative Syndrome 1

Related Diseases for Lymphoproliferative Syndrome 1

Diseases in the Lymphoproliferative Syndrome family:

Diseases related to Lymphoproliferative Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Lymphoproliferative Syndrome 1:

Symptoms & Phenotypes for Lymphoproliferative Syndrome 1

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Lymphoproliferative Syndrome 1:

Drugs & Therapeutics for Lymphoproliferative Syndrome 1

Genetic Tests for Lymphoproliferative Syndrome 1

Genetic tests related to Lymphoproliferative Syndrome 1:

Anatomical Context for Lymphoproliferative Syndrome 1

MalaCards organs/tissues related to Lymphoproliferative Syndrome 1:

Publications for Lymphoproliferative Syndrome 1

Genes for Lymphoproliferative Syndrome 1

Genes related to Lymphoproliferative Syndrome 1 (1 elite genes):

Variations for Lymphoproliferative Syndrome 1

UniProtKB/Swiss-Prot genetic disease variations for Lymphoproliferative Syndrome 1:

ClinVar genetic disease variations for Lymphoproliferative Syndrome 1:

Expression for Lymphoproliferative Syndrome 1

Pathways for Lymphoproliferative Syndrome 1

Pathways related to Lymphoproliferative Syndrome 1 according to KEGG:

Pathways related to Lymphoproliferative Syndrome 1 according to GeneCards Suite gene sharing:

GO Terms for Lymphoproliferative Syndrome 1

Biological processes related to Lymphoproliferative Syndrome 1 according to GeneCards Suite gene sharing:

Sources for Lymphoproliferative Syndrome 1