Lymphoproliferative Syndrome 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

LPFS2 MCID: LYM107 MIFTS: 47	Lymphoproliferative Syndrome 2 (LPFS2) 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 Lymphoproliferative Syndrome 2

MalaCards integrated aliases for Lymphoproliferative Syndrome 2:

Name: Lymphoproliferative Syndrome 2 ⁵⁷ ¹² ⁷⁵ ²⁹ ¹³ ⁶ ¹⁵ ⁴⁰ ⁷³

Cd27 Deficiency ⁵⁷ ¹² ⁷⁵

Lpfs2 ⁵⁷ ¹² ⁷⁵

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal recessive

Miscellaneous:
variable severity
onset in first months or years of life
variable survival
recurrent acute episodes
favorable response to rituxan (in some patients)

HPO:

³²

lymphoproliferative syndrome 2:
Onset and clinical course variable expressivity
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 615122

Disease Ontology ¹² DOID:0060708

ICD10 ³³ D47.9

MedGen ⁴² C3554540 CN168059

MeSH ⁴⁴ D008232

UMLS ⁷³ C3554540

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Summaries for Lymphoproliferative Syndrome 2

OMIM : ⁵⁷ Lymphoproliferative syndrome-2, also known as CD27 deficiency, is an autosomal recessive immunodeficiency disorder associated with persistent symptomatic EBV viremia, hypogammaglobulinemia, and impairment in specific antibody function resulting from impaired T cell-dependent B-cell responses and T-cell dysfunction (summary by van Montfrans et al., 2012). The phenotype can vary significantly, from asymptomatic borderline-low hypogammaglobulinemia, to a full-blown symptomatic systemic inflammatory response with life-threatening EBV-related complications, including hemophagocytic lymphohistiocytosis, a lymphoproliferative disorder, and malignant lymphoma requiring stem cell transplantation (summary by Salzer et al., 2013). For a discussion of genetic heterogeneity of lymphoproliferative syndrome, see XLP1 (308240). (615122)

MalaCards based summary : Lymphoproliferative Syndrome 2, also known as cd27 deficiency, is related to lymphoproliferative syndrome, x-linked, 2 and autosomal recessive lymphoproliferative disease, and has symptoms including fever An important gene associated with Lymphoproliferative Syndrome 2 is CD27 (CD27 Molecule), and among its related pathways/superpathways are Innate Immune System and ERK Signaling. Affiliated tissues include t cells, b cells and lung, and related phenotypes are splenomegaly and hepatomegaly

Disease Ontology : ¹² A lymphoproliferative syndrome characterized by autosomal recessive inheritance, persistent symptomatic Epstein-Barr virus-associated viremia, hypogammaglobulinemia, and impairment in specific antibody function and that has material basis in homozygous mutation in the CD27 gene on chromosome 12p13.

UniProtKB/Swiss-Prot : ⁷⁵ Lymphoproliferative syndrome 2: An autosomal recessive immunodeficiency disorder associated with persistent symptomatic EBV viremia, hypogammaglobulinemia, and impaired T-cell-dependent B-cell responses and T-cell dysfunction. The phenotype is highly variable, ranging from asymptomatic borderline-low hypogammaglobulinemia, to a full-blown symptomatic systemic inflammatory response with life-threatening EBV-related complications, including hemophagocytic lymphohistiocytosis, a lymphoproliferative disorder, and malignant lymphoma requiring stem cell transplantation.

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Related Diseases for Lymphoproliferative Syndrome 2

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 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 26)

#	Related Disease	Score	Top Affiliating Genes
1	lymphoproliferative syndrome, x-linked, 2	11.4
2	autosomal recessive lymphoproliferative disease	11.1
3	htlv-1 associated myelopathy/tropical spastic paraparesis	10.1	CXCR3 IL2RA
4	macroglobulinemia	10.1	CD27 CD40LG CD70
5	dysgammaglobulinemia	10.1	MAGT1 XIAP
6	lymphopenia	10.1	IL2RA MAGT1 PIK3CD
7	waldenstrom macroglobulinemia	10.1	CD27 CD40LG CD70
8	acrodermatitis chronica atrophicans	10.1	CD40LG CXCL10
9	opsoclonus-myoclonus syndrome	10.1	CXCL10 CXCR3
10	hemophagocytic lymphohistiocytosis	10.0	CD27 IL2RA XIAP
11	tetanus	10.0	CD27 CD40LG IL2RA
12	adult t-cell leukemia	10.0	BCL2L1 IL2RA XIAP
13	uveitis	10.0	CXCL10 CXCR3 IL2RA
14	solitary osseous plasmacytoma	10.0	CD27 MCL1
15	secondary progressive multiple sclerosis	10.0	CD40LG CXCL10 CXCR3
16	common variable immunodeficiency	10.0	CD27 CD40LG CD70 IL2RA
17	follicular lymphoma	9.9	BCL2L1 CD27 MCL1
18	hematologic cancer	9.9	GATA2 IL2RA MCL1 XIAP
19	mycosis fungoides	9.9	CXCL10 CXCR3 IL2RA
20	myeloma, multiple	9.9	BCL2L1 CD27 MCL1 XIAP
21	cryoglobulinemia	9.9	CD27 CD40LG CXCL10 CXCR3
22	immunodeficiency with hyper-igm, type 2	9.9	CD276 CD40LG CXCL10
23	combined t cell and b cell immunodeficiency	9.9
24	leukemia, acute myeloid	9.8	BCL2L1 GATA2 MCL1 XIAP
25	lymphoma, non-hodgkin, familial	9.7	BCL2L1 CD27 CD70 IL2RA MCL1 XIAP
26	leukemia, chronic lymphocytic	9.2	BCL2L1 CCL19 CD27 CD40LG CD70 CXCR3

Graphical network of the top 20 diseases related to Lymphoproliferative Syndrome 2:

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Symptoms & Phenotypes for Lymphoproliferative Syndrome 2

Symptoms via clinical synopsis from OMIM:

⁵⁷

Abdomen Spleen:
splenomegaly

Metabolic Features:
fever

Muscle Soft Tissue:
ascites (in some patients)

Laboratory Abnormalities:
increased susceptibility to ebv infection
persistent ebv viremia
decreased fibrinogen (in some patients)

Abdomen Liver:
hepatomegaly

Immunology:
lymphadenopathy
hypogammaglobulinemia
decreased t cell-dependent antibody production
defective cd8+ t cell function
lack of cd27 expression on lymphocytes
more

Hematology:
pancytopenia (in some patients)
aplastic anemia (in some patients)

Neoplasia:
hemophagocytic lymphohistiocytosis (in some patients)
lymphoproliferative disorder (in some patients)
lymphoma (in some patients)

Clinical features from OMIM:

615122

Human phenotypes related to Lymphoproliferative Syndrome 2:

³² (show all 10)

#	Description	HPO Frequency	HPO Source Accession
1	splenomegaly ³²		HP:0001744
2	hepatomegaly ³²		HP:0002240
3	fever ³²		HP:0001945
4	ascites ³²	occasional (7.5%)	HP:0001541
5	aplastic anemia ³²	occasional (7.5%)	HP:0001915
6	decreased antibody level in blood ³²		HP:0004313
7	lymphoma ³²	occasional (7.5%)	HP:0002665
8	lymphadenopathy ³²		HP:0002716
9	lymphoproliferative disorder ³²	occasional (7.5%)	HP:0005523
10	hemophagocytosis ³²	occasional (7.5%)	HP:0012156

UMLS symptoms related to Lymphoproliferative Syndrome 2:

fever

GenomeRNAi Phenotypes related to Lymphoproliferative Syndrome 2 according to GeneCards Suite gene sharing:

²⁶

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Synthetic lethal with MLN4924 (a NAE inhibitor)	GR00250-A-1	9.72	BCL2L1 CD40LG CD70 IL2RA MCL1 XIAP
2	Synthetic lethal with MLN4924 (a NAE inhibitor)	GR00250-A-2	9.72	BCL2L1 CD40LG CD70 IL2RA MCL1 XIAP

MGI Mouse Phenotypes related to Lymphoproliferative Syndrome 2:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	hematopoietic system	MP:0005397	9.77	BCL2L1 CD27 CD276 CD40LG CD70 CXCL10
2	immune system	MP:0005387	9.4	BCL2L1 CD27 CD276 CD40LG CD70 CXCL10

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Drugs & Therapeutics for Lymphoproliferative Syndrome 2

Search Clinical Trials , NIH Clinical Center for Lymphoproliferative Syndrome 2

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Genetic Tests for Lymphoproliferative Syndrome 2

Genetic tests related to Lymphoproliferative Syndrome 2:

#	Genetic test	Affiliating Genes
1	Lymphoproliferative Syndrome 2 ²⁹	CD27

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Anatomical Context for Lymphoproliferative Syndrome 2

MalaCards organs/tissues related to Lymphoproliferative Syndrome 2:

⁴¹

T Cells, B Cells, Lung, Myeloid

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Publications for Lymphoproliferative Syndrome 2

Articles related to Lymphoproliferative Syndrome 2:

#	Title	Authors	Year
1	Immune Dysregulation Syndromes (IPEX, CD27 Deficiency, and Others): Always Doomed from the Start? ( 26661331 )	Seidel M.G....Haas O.A.	2016
2	Novel mutations in TNFRSF7/CD27: Clinical, immunologic, and genetic characterization of human CD27 deficiency. ( 25843314 )		2015
3	CD27 deficiency is associated with combined immunodeficiency and persistent symptomatic EBV viremia. ( 22197273 )		2012

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Genes for Lymphoproliferative Syndrome 2

Genes related to Lymphoproliferative Syndrome 2 (1 elite genes):

(show all 18)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	CD27	CD27 Molecule	Protein Coding	1334.95	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)
2	XIAP	X-Linked Inhibitor Of Apoptosis	Protein Coding	18.52	GeneCards inferred via : Variants (show sections)
3	CD70	CD70 Molecule	Protein Coding	17.32	DISEASES inferred ¹⁵
4	MAGT1	Magnesium Transporter 1	Protein Coding	15.76	DISEASES inferred ¹⁵
5	BANF1	Barrier To Autointegration Factor 1	Protein Coding	14.6	DISEASES inferred ¹⁵
6	PIK3CD	Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Delta	Protein Coding	14.54	DISEASES inferred ¹⁵
7	GATA2	GATA Binding Protein 2	Protein Coding	14.36	DISEASES inferred ¹⁵
8	IL2RA	Interleukin 2 Receptor Subunit Alpha	Protein Coding	13.88	DISEASES inferred ¹⁵
9	CXCR3	C-X-C Motif Chemokine Receptor 3	Protein Coding	13.71	DISEASES inferred ¹⁵
10	MCL1	MCL1, BCL2 Family Apoptosis Regulator	Protein Coding	13.34	DISEASES inferred ¹⁵
11	CXCL10	C-X-C Motif Chemokine Ligand 10	Protein Coding	13.31	DISEASES inferred ¹⁵
12	CD40LG	CD40 Ligand	Protein Coding	13.25	DISEASES inferred ¹⁵
13	CD27-AS1	CD27 Antisense RNA 1	RNA Gene	8.43	GeneCards inferred via : Variants (show sections)
14	TAPBPL	TAP Binding Protein Like	Protein Coding	8.17	GeneCards inferred via : Variants (show sections)
15	CCL19	C-C Motif Chemokine Ligand 19	Protein Coding	4.41	DISEASES inferred ¹⁵
16	CD276	CD276 Molecule	Protein Coding	4.28	DISEASES inferred ¹⁵
17	CCL21	C-C Motif Chemokine Ligand 21	Protein Coding	4.2	DISEASES inferred ¹⁵
18	BCL2L1	BCL2 Like 1	Protein Coding	2.99	DISEASES inferred ¹⁵

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Variations for Lymphoproliferative Syndrome 2

UniProtKB/Swiss-Prot genetic disease variations for Lymphoproliferative Syndrome 2:

⁷⁵

#	Symbol	AA change	Variation ID	SNP ID
1	CD27	p.Cys53Tyr	VAR_069793	rs397514667

ClinVar genetic disease variations for Lymphoproliferative Syndrome 2:

⁶ (show all 26)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	CD27	NM_001242.4(CD27): c.24G> A (p.Trp8Ter)	single nucleotide variant	Pathogenic	rs398122933	GRCh38	Chromosome 12, 6445119: 6445119
2	CD27	NM_001242.4(CD27): c.24G> A (p.Trp8Ter)	single nucleotide variant	Pathogenic	rs398122933	GRCh37	Chromosome 12, 6554285: 6554285
3	CD27	NM_001242.4(CD27): c.158G> A (p.Cys53Tyr)	single nucleotide variant	Pathogenic	rs397514667	GRCh37	Chromosome 12, 6554611: 6554611
4	CD27	NM_001242.4(CD27): c.158G> A (p.Cys53Tyr)	single nucleotide variant	Pathogenic	rs397514667	GRCh38	Chromosome 12, 6445445: 6445445
5	CD27	NM_001242.4(CD27): c.30C> T (p.Cys10=)	single nucleotide variant	Benign	rs34540052	GRCh37	Chromosome 12, 6554291: 6554291
6	CD27	NM_001242.4(CD27): c.30C> T (p.Cys10=)	single nucleotide variant	Benign	rs34540052	GRCh38	Chromosome 12, 6445125: 6445125
7	CD27	NM_001242.4(CD27): c.225C> T (p.His75=)	single nucleotide variant	Likely benign	rs745713273	GRCh37	Chromosome 12, 6554678: 6554678
8	CD27	NM_001242.4(CD27): c.225C> T (p.His75=)	single nucleotide variant	Likely benign	rs745713273	GRCh38	Chromosome 12, 6445512: 6445512
9	CD27	NM_001242.4(CD27): c.269-9T> C	single nucleotide variant	Benign	rs11830902	GRCh37	Chromosome 12, 6559330: 6559330
10	CD27	NM_001242.4(CD27): c.269-9T> C	single nucleotide variant	Benign	rs11830902	GRCh38	Chromosome 12, 6450164: 6450164
11	CD27	NM_001242.4(CD27): c.698G> A (p.Arg233His)	single nucleotide variant	Benign	rs2532502	GRCh38	Chromosome 12, 6451307: 6451307
12	CD27	NM_001242.4(CD27): c.698G> A (p.Arg233His)	single nucleotide variant	Benign	rs2532502	GRCh37	Chromosome 12, 6560473: 6560473
13	CD27	NM_001242.4(CD27): c.495C> T (p.Asp165=)	single nucleotide variant	Likely benign	rs375150093	GRCh37	Chromosome 12, 6559753: 6559753
14	CD27	NM_001242.4(CD27): c.495C> T (p.Asp165=)	single nucleotide variant	Likely benign	rs375150093	GRCh38	Chromosome 12, 6450587: 6450587
15	CD27	NM_001242.4(CD27): c.635A> G (p.His212Arg)	single nucleotide variant	Uncertain significance	rs755699729	GRCh37	Chromosome 12, 6560157: 6560157
16	CD27	NM_001242.4(CD27): c.635A> G (p.His212Arg)	single nucleotide variant	Uncertain significance	rs755699729	GRCh38	Chromosome 12, 6450991: 6450991
17	CD27	NM_001242.4(CD27): c.539-9C> T	single nucleotide variant	Likely benign	rs374055287	GRCh38	Chromosome 12, 6450886: 6450886
18	CD27	NM_001242.4(CD27): c.539-9C> T	single nucleotide variant	Likely benign	rs374055287	GRCh37	Chromosome 12, 6560052: 6560052
19	CD27	NM_001242.4(CD27): c.541C> T (p.Gln181Ter)	single nucleotide variant	Pathogenic	rs779092602	GRCh38	Chromosome 12, 6450897: 6450897
20	CD27	NM_001242.4(CD27): c.541C> T (p.Gln181Ter)	single nucleotide variant	Pathogenic	rs779092602	GRCh37	Chromosome 12, 6560063: 6560063
21	CD27	NM_001242.4(CD27): c.239dup (p.His80Glnfs)	duplication	Pathogenic		GRCh38	Chromosome 12, 6445526: 6445526
22	CD27	NM_001242.4(CD27): c.239dup (p.His80Glnfs)	duplication	Pathogenic		GRCh37	Chromosome 12, 6554692: 6554692
23	CD27	NM_001242.4(CD27): c.122A> G (p.Gln41Arg)	single nucleotide variant	Uncertain significance	rs752259578	GRCh38	Chromosome 12, 6445217: 6445217
24	CD27	NM_001242.4(CD27): c.122A> G (p.Gln41Arg)	single nucleotide variant	Uncertain significance	rs752259578	GRCh37	Chromosome 12, 6554383: 6554383
25	CD27	NM_001242.4(CD27): c.277G> A (p.Val93Ile)	single nucleotide variant	Uncertain significance	rs761113232	GRCh37	Chromosome 12, 6559347: 6559347
26	CD27	NM_001242.4(CD27): c.277G> A (p.Val93Ile)	single nucleotide variant	Uncertain significance	rs761113232	GRCh38	Chromosome 12, 6450181: 6450181

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Expression for Lymphoproliferative Syndrome 2

Search GEO for disease gene expression data for Lymphoproliferative Syndrome 2.

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Pathways for Lymphoproliferative Syndrome 2

Pathways related to Lymphoproliferative Syndrome 2 according to GeneCards Suite gene sharing:

(show all 29)

#	Super pathways	Score	Top Affiliating Genes
1	Innate Immune System ⁶⁶ Show member pathways Immune System ⁶⁶ Neutrophil degranulation ⁶⁶	13.92	BCL2L1 CCL19 CD27 CD40LG CD70 CXCL10
2	ERK Signaling ⁶⁴ Show member pathways ILK Signaling ⁶⁴ MAPK Signaling ⁶⁴ Molecular Mechanisms of Cancer ⁶⁴ Rho Family GTPases ⁶⁴	13.75	BCL2L1 CCL19 CCL21 CD27 CD40LG CD70
3	PEDF Induced Signaling ⁶⁴ Show member pathways all-trans-Retinoic Acid Signaling in Brain ⁶⁴ Cytokine-cytokine receptor interaction ³⁷ Endothelin-1 Signaling Pathway ⁶⁴ Glucocorticoid Receptor Signaling ⁶⁴ IL-6 Pathway ⁶⁴ MIF Mediated Glucocorticoid Regulation ⁶⁴ MIF Regulation of Innate Immune Cells ⁶⁴ NFAT Signaling and Lymphocyte Interactions ⁶⁴ PGC1Alpha Pathway ⁶⁴ RAR-Gamma-RXR-Alpha Degradation ⁶⁴ STAT3 Pathway ⁶⁴	13.49	BCL2L1 CCL19 CCL21 CD27 CD40LG CD70
4	Akt Signaling ⁶⁴ Show member pathways p38 Signaling ⁶⁴ Tec Kinases Signaling ⁶⁴	13.06	CCL19 CCL21 CD27 CD40LG CD70 CXCL10
5	PAK Pathway ⁶⁴ Show member pathways Antioxidant Action of Vitamin-C ⁶⁴ Epithelial Adherens Junctions ⁶⁴	13.04	CCL19 CCL21 CD27 CD40LG CD70 CXCL10
6	CCR5 Pathway in Macrophages ⁶⁴ Show member pathways Androgen Signaling ⁶⁴ Chemokine Signaling ⁶⁴ Chemokine signaling pathway ³⁷	12.76	CCL19 CCL21 CXCL10 CXCR3 PIK3CD
7	Cytokine Signaling in Immune system ⁶⁶ Show member pathways Signaling by Interleukins ⁶⁶	12.72	BCL2L1 CCL19 CD27 CD40LG CD70 CXCL10
8	Apoptosis Modulation and Signaling ¹ Show member pathways Apoptosis ¹ Apoptosis ³⁷ Apoptosis and survival Apoptotic TNF-family pathways ²² Apoptosis Signaling Pathways ⁶⁵ Death Receptor Signaling ⁶⁷	12.58	BCL2L1 CD27 CD70 MCL1 PIK3CD XIAP
9	4-1BB Pathway ⁶⁴ Show member pathways CD27 Pathway ⁶⁴ CD40 Signaling ⁶⁴ CMV and MAPK Pathways ⁶⁴ NF-KappaB Activation by EBV ⁶⁴ NF-kappaB Activation by Viruses ⁶⁴ PKR Pathway ⁶⁴ SUMO Pathway ⁶⁴ TNFR2 Pathway ⁶⁴	12.53	BCL2L1 CD27 CD40LG CD70 MCL1
10	Immune response NFAT in immune response ²² Show member pathways Immune response CD28 signaling ²² Immune response ICOS pathway in T-helper cell ²² Immune response T cell receptor signaling pathway ²²	12.5	BCL2L1 CD40LG IL2RA PIK3CD
11	NF-kappaB Signaling ⁴	12.37	CD276 CD40LG CXCL10 GATA2 IL2RA
12	JAK-STAT signaling pathway (KEGG) ³⁷ Show member pathways Interleukin-19, 20, 22, 24 ⁶⁶ Jak/STAT Signaling Pathway ⁶⁵	12.28	BCL2L1 IL2RA MCL1 PIK3CD
13	Human T-cell leukemia virus 1 infection ³⁷	12.27	BCL2L1 IL2RA PIK3CD XIAP
14	G-protein signaling Regulation of p38 and JNK signaling mediated by G-proteins ²² Show member pathways G-protein signaling G-Protein alpha-12 signaling pathway ²²	12.1	CCL19 CCL21 CXCL10 CXCR3 PIK3CD
15	Apoptosis and Autophagy ⁴	12.08	BCL2L1 CD40LG MCL1 XIAP
16	MAPK Signaling: Mitogen Stimulation Pathway ⁶⁵ Show member pathways Akt Signaling Pathway ⁶⁵	12.07	BCL2L1 IL2RA PIK3CD XIAP
17	AKT Signaling Pathway ⁶⁷	11.98	BCL2L1 IL2RA PIK3CD XIAP
18	Immune response IFN gamma signaling pathway ²² Show member pathways IFN-gamma pathway ¹	11.89	CCL19 CCL21 IL2RA PIK3CD XIAP
19	Chemokine Superfamily Pathway: Human/Mouse Ligand-Receptor Interactions ⁶⁵ Show member pathways Chemokine receptors bind chemokines ⁶⁶	11.8	CCL19 CCL21 CXCL10 CXCR3
20	Small cell lung cancer ³⁷	11.76	BCL2L1 PIK3CD XIAP
21	Nanomaterial induced apoptosis ¹ Show member pathways Activation and oligomerization of BAK protein ⁶⁶ Apoptosis - multiple species ³⁷ Apoptosis Modulation by HSP70 ¹ Apoptotic factor-mediated response ⁶⁶ Release of apoptotic factors from the mitochondria ⁶⁶	11.68	BCL2L1 MCL1 XIAP
22	Apoptosis and survival Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway ²² Show member pathways Apoptosis and survival Anti-apoptotic TNFs/NF-kB/IAP pathway ²²	11.6	BCL2L1 CD40LG XIAP
23	Platinum drug resistance ³⁷	11.59	BCL2L1 PIK3CD XIAP
24	T Cell Co-Signaling Pathway: Ligand-Receptor Interactions ⁶⁵	11.22	CD27 CD276 CD40LG CD70
25	NF-kappa B signaling pathway ³⁷	11	BCL2L1 CCL19 CCL21 CD40LG XIAP
26	Hematopoietic Stem Cell Gene Regulation by GABP alpha/beta Complex ¹	10.98	BCL2L1 MCL1
27	Regulation of Apoptosis by Parathyroid Hormone-related Protein ¹	10.98	BCL2L1 MCL1
28	G-protein signaling_RhoB regulation pathway ²²	10.95	CCL19 CCL21 CD40LG CD70 CXCL10
29	G-protein signaling_Rap2B regulation pathway ²²	10.89	CCL19 CCL21 CD40LG CD70 CXCL10

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GO Terms for Lymphoproliferative Syndrome 2

Cellular components related to Lymphoproliferative Syndrome 2 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	external side of plasma membrane	GO:0009897	9.1	CD27 CD276 CD40LG CXCL10 CXCR3 IL2RA
2	Bcl-2 family protein complex	GO:0097136	8.96	BCL2L1 MCL1

Biological processes related to Lymphoproliferative Syndrome 2 according to GeneCards Suite gene sharing:

(show all 35)

#	Name	GO ID	Score	Top Affiliating Genes
1	regulation of signaling receptor activity	GO:0010469	9.97	CCL19 CCL21 CD40LG CD70 CXCL10
2	cell proliferation	GO:0008283	9.96	BCL2L1 CD276 CD70 IL2RA
3	cell surface receptor signaling pathway	GO:0007166	9.91	CD27 CXCL10 CXCR3 IL2RA
4	inflammatory response	GO:0006954	9.85	CCL19 CCL21 CD40LG CXCL10 CXCR3 PIK3CD
5	positive regulation of JNK cascade	GO:0046330	9.78	CCL19 CCL21 CD27
6	response to virus	GO:0009615	9.78	BANF1 BCL2L1 CCL19 CXCL10
7	tumor necrosis factor-mediated signaling pathway	GO:0033209	9.77	CD27 CD40LG CD70
8	cell chemotaxis	GO:0060326	9.76	CCL19 CCL21 CXCL10 CXCR3
9	neutrophil chemotaxis	GO:0030593	9.73	CCL19 CCL21 CXCL10 PIK3CD
10	T cell costimulation	GO:0031295	9.71	CCL19 CCL21 CD40LG
11	chemokine-mediated signaling pathway	GO:0070098	9.71	CCL19 CCL21 CXCL10 CXCR3
12	cell maturation	GO:0048469	9.69	CCL19 CCL21 GATA2
13	positive regulation of interleukin-12 production	GO:0032735	9.67	CCL19 CD40LG
14	negative regulation of intrinsic apoptotic signaling pathway	GO:2001243	9.66	BCL2L1 MCL1
15	positive regulation of neutrophil chemotaxis	GO:0090023	9.66	CCL19 CCL21
16	positive regulation of receptor-mediated endocytosis	GO:0048260	9.65	CCL19 CCL21
17	positive regulation of T cell differentiation	GO:0045582	9.65	CD27 IL2RA
18	cell fate determination	GO:0001709	9.64	GATA2 MCL1
19	dendritic cell chemotaxis	GO:0002407	9.64	CCL19 CCL21
20	positive regulation of cell motility	GO:2000147	9.63	CCL19 CCL21
21	positive regulation of T cell migration	GO:2000406	9.63	CCL21 CXCL10
22	positive regulation of chemotaxis	GO:0050921	9.62	CCL19 CCL21
23	positive regulation of T cell proliferation	GO:0042102	9.62	CCL19 CD276 CD40LG IL2RA
24	immunological synapse formation	GO:0001771	9.6	CCL19 CCL21
25	response to prostaglandin E	GO:0034695	9.58	CCL19 CCL21
26	negative regulation of dendritic cell apoptotic process	GO:2000669	9.57	CCL19 CCL21
27	positive regulation of dendritic cell antigen processing and presentation	GO:0002606	9.56	CCL19 CCL21
28	establishment of T cell polarity	GO:0001768	9.55	CCL19 CCL21
29	chemotaxis	GO:0006935	9.55	CCL19 CCL21 CXCL10 CXCR3 PIK3CD
30	positive regulation of glycoprotein biosynthetic process	GO:0010560	9.49	CCL19 CCL21
31	T cell chemotaxis	GO:0010818	9.43	CXCL10 CXCR3 PIK3CD
32	cytokine-mediated signaling pathway	GO:0019221	9.43	BCL2L1 CCL19 CXCL10 IL2RA MCL1 PIK3CD
33	immune response	GO:0006955	9.23	CCL19 CCL21 CD276 CD40LG CD70 CXCL10
34	negative regulation of apoptotic process	GO:0043066	10.02	BCL2L1 CD27 CD40LG MCL1 XIAP
35	apoptotic process	GO:0006915	10	BCL2L1 CD27 CXCR3 IL2RA MCL1 XIAP

Molecular functions related to Lymphoproliferative Syndrome 2 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	chemokine activity	GO:0008009	9.43	CCL19 CCL21 CXCL10
2	cysteine-type endopeptidase inhibitor activity involved in apoptotic process	GO:0043027	9.37	CD27 XIAP
3	chemokine receptor binding	GO:0042379	9.32	CCL19 CCL21
4	BH3 domain binding	GO:0051434	9.16	BCL2L1 MCL1
5	cytokine activity	GO:0005125	9.02	CCL19 CCL21 CD40LG CD70 CXCL10
6	CCR7 chemokine receptor binding	GO:0031732	8.96	CCL19 CCL21

Sources

Sources for Lymphoproliferative Syndrome 2

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 2 (LPFS2)

Aliases & Classifications for Lymphoproliferative Syndrome 2

MalaCards integrated aliases for Lymphoproliferative Syndrome 2:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Lymphoproliferative Syndrome 2

Related Diseases for Lymphoproliferative Syndrome 2

Diseases in the Lymphoproliferative Syndrome family:

Diseases related to Lymphoproliferative Syndrome 2 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Lymphoproliferative Syndrome 2:

Symptoms & Phenotypes for Lymphoproliferative Syndrome 2

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Lymphoproliferative Syndrome 2:

UMLS symptoms related to Lymphoproliferative Syndrome 2:

GenomeRNAi Phenotypes related to Lymphoproliferative Syndrome 2 according to GeneCards Suite gene sharing:

MGI Mouse Phenotypes related to Lymphoproliferative Syndrome 2:

Drugs & Therapeutics for Lymphoproliferative Syndrome 2

Genetic Tests for Lymphoproliferative Syndrome 2

Genetic tests related to Lymphoproliferative Syndrome 2:

Anatomical Context for Lymphoproliferative Syndrome 2

MalaCards organs/tissues related to Lymphoproliferative Syndrome 2:

Publications for Lymphoproliferative Syndrome 2

Articles related to Lymphoproliferative Syndrome 2:

Genes for Lymphoproliferative Syndrome 2

Genes related to Lymphoproliferative Syndrome 2 (1 elite genes):

Variations for Lymphoproliferative Syndrome 2

UniProtKB/Swiss-Prot genetic disease variations for Lymphoproliferative Syndrome 2:

ClinVar genetic disease variations for Lymphoproliferative Syndrome 2:

Expression for Lymphoproliferative Syndrome 2

Pathways for Lymphoproliferative Syndrome 2

Pathways related to Lymphoproliferative Syndrome 2 according to GeneCards Suite gene sharing:

GO Terms for Lymphoproliferative Syndrome 2

Cellular components related to Lymphoproliferative Syndrome 2 according to GeneCards Suite gene sharing:

Biological processes related to Lymphoproliferative Syndrome 2 according to GeneCards Suite gene sharing:

Molecular functions related to Lymphoproliferative Syndrome 2 according to GeneCards Suite gene sharing:

Sources for Lymphoproliferative Syndrome 2