MCID: LYM113
MIFTS: 56

Lymphoproliferative Syndrome, X-Linked, 1

Categories: Genetic diseases, Rare diseases, Blood diseases, Immune diseases

Aliases & Classifications for Lymphoproliferative Syndrome, X-Linked, 1

MalaCards integrated aliases for Lymphoproliferative Syndrome, X-Linked, 1:

Name: Lymphoproliferative Syndrome, X-Linked, 1 57 53 75
X-Linked Lymphoproliferative Syndrome 76 53 25 37 55 6
Purtilo Syndrome 57 76 53 25 59 75
Duncan Disease 57 24 53 25 59 75
Xlp 57 24 53 25 59
X-Linked Lymphoproliferative Disease 53 25 59 75
Xlp1 57 12 53 75
X-Linked Lymphoproliferative Syndrome 1 12 53 15
Lymphoproliferative Disease, X-Linked 57 24 53
Xlpd 57 53 75
Ebv Infection, Severe, Susceptibility to 57 53
Lymphoproliferative Syndrome 1, X-Linked 29 6
Immunodeficiency 5 57 75
Ebvs 57 53
Imd5 57 75
Lyp 57 76
Epstein-Barr Virus-Induced Lymphoproliferative Disease in Males 25
X-Linked Progressive Combined Variable Immunodeficiency 5 53
Immunodeficiency, X-Linked Progressive Combined Variable 57
X-Linked Progressive Combined Variable Immunodeficiency 75
Sh2d1a-Related Lymphoproliferative Disease, X-Linked 53
Infectious Mononucleosis, Severe, Susceptibility to 57
Severe Susceptibility to Infectious Mononucleosis 25
Lymphoproliferative Syndrome, X-Linked, Type 1 40
Epstein-Barr Virus Infection, Familial Fatal 57
Epstein Barr Virus Infection, Familial Fatal 53
Lymphoproliferative Disease, X-Linked; Xlpd 57
Lymphoproliferative Syndrome X-Linked 1 53
Severe Susceptibility to Ebv Infection 25
Lymphoproliferative Syndrome, X-Linked 13
Familial Fatal Epstein-Barr Infection 25
X-Linked Lymphoproliferative Disorder 73
Infectious Mononucleosis, Severe 57
Ebv Infection, Severe ; Ebvs 57
Immunodeficiency 5; Imd5 57

Characteristics:

Orphanet epidemiological data:

59
x-linked lymphoproliferative disease
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Europe); Age of onset: Childhood;

OMIM:

57
Inheritance:
x-linked recessive

Miscellaneous:
reduced life expectancy, death by 10 years of age in 70% of patients


HPO:

32
lymphoproliferative syndrome, x-linked, 1:
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 59  
Rare immunological diseases


External Ids:

OMIM 57 308240
Disease Ontology 12 DOID:0060705
ICD10 33 D82.3
Orphanet 59 ORPHA2442
UMLS via Orphanet 74 C0549463
MESH via Orphanet 45 D008232
ICD10 via Orphanet 34 D82.3
MeSH 44 D008232
KEGG 37 H01969
UMLS 73 C0549463

Summaries for Lymphoproliferative Syndrome, X-Linked, 1

NIH Rare Diseases : 53 X-linked lymphoproliferative syndrome (XLP) is an immune system disorder that is found almost exclusively in males.  Individuals with XLP have an increased risk of infection because their body cannot properly regulate the number of immune system cells (lymphocytes) and blood cells.  Humans have two main types of lymphocytes, B cells and T cells, which work together to clear infections and keep the immune system in check. Individuals with XLP lack the proper regulation between B cells and T cells and are therefore unable to affectively destroy invading viruses, such as the usually harmless Epstein-Barr virus (EBV). Typically, XLP patients do not display severe symptoms of a compromised immune system until they have been exposed to EBV.  EBV infections, however, are common and can become life-threatening in people with XLP resulting in symptoms that  include fever, hepatitis, an enlarged spleen, abnormally low numbers of antibodies, and, in some cases, lymphoma and other blood disorders.  XLP is caused by mutations in the SH2D1A gene which makes a protein SAP, a key regulator in immunity, as well as the XIAP gene  XLP is inherited in an X-linked recessive pattern.

MalaCards based summary : Lymphoproliferative Syndrome, X-Linked, 1, also known as x-linked lymphoproliferative syndrome, is related to lymphoproliferative syndrome, x-linked, 2 and hemophagocytic lymphohistiocytosis. An important gene associated with Lymphoproliferative Syndrome, X-Linked, 1 is SH2D1A (SH2 Domain Containing 1A), and among its related pathways/superpathways are Natural killer cell mediated cytotoxicity and Apoptosis. The drugs Busulfan and Cyclophosphamide have been mentioned in the context of this disorder. Affiliated tissues include t cells, b cells and spleen, and related phenotypes are splenomegaly and anemia

Disease Ontology : 12 A lymphoproliferative syndrome characterized by X-linked inheritance, severe immune dysregulation after viral infect that may manifest as severe or fatal mononucleosis, acquired hypogammaglobulinema, hemophagocytic lymphohistiocytosis, and/or malignant lymphoma and that has material basis in mutation in the SH2D1A gene on chromosome Xq25.

Genetics Home Reference : 25 X-linked lymphoproliferative disease (XLP) is a disorder of the immune system and blood-forming cells that is found almost exclusively in males. More than half of individuals with this disorder experience an exaggerated immune response to the Epstein-Barr virus (EBV). EBV is a very common virus that eventually infects most humans. In some people it causes infectious mononucleosis (commonly known as "mono"). Normally, after initial infection, EBV remains in certain immune system cells (lymphocytes) called B cells. However, the virus is generally inactive (latent) because it is controlled by other lymphocytes called T cells that specifically target EBV-infected B cells.

OMIM : 57 X-linked lymphoproliferative syndrome, or Duncan disease, is a primary immunodeficiency characterized by severe immune dysregulation often after viral infection, typically with Epstein-Barr virus (EBV). It is a complex phenotype manifest as severe or fatal mononucleosis, acquired hypogammaglobulinema, hemophagocytic lymphohistiocytosis (HLH), and/or malignant lymphoma. Other features may include aplastic anemia, red cell aplasia, and lymphomatoid granulomatosis (Purtilo et al., 1977; Purtilo, 1981; Purtilo and Grierson, 1991; Coffey et al., 1998; Booth et al., 2011). (308240)

UniProtKB/Swiss-Prot : 75 Lymphoproliferative syndrome, X-linked, 1: A rare immunodeficiency characterized by extreme susceptibility to infection with Epstein-Barr virus (EBV). Symptoms include severe or fatal mononucleosis, acquired hypogammaglobulinemia, pancytopenia and malignant lymphoma.

Wikipedia : 76 Lymphomatoid papulosis (LyP) is a rare skin disorder. The overall prevalence rate of lymphomatoid... more...

GeneReviews: NBK1406

Related Diseases for Lymphoproliferative Syndrome, X-Linked, 1

Graphical network of the top 20 diseases related to Lymphoproliferative Syndrome, X-Linked, 1:



Diseases related to Lymphoproliferative Syndrome, X-Linked, 1

Symptoms & Phenotypes for Lymphoproliferative Syndrome, X-Linked, 1

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
encephalitis
meningitis
hepatic encephalopathy

Abdomen Liver:
hepatomegaly
liver failure
fulminant hepatitis

Neoplasia:
lymphoma
hemophagocytic lymphohistiocytosis

Respiratory Nasopharynx:
pharyngitis

Laboratory Abnormalities:
reduced igg levels
increased igm levels

AbdomenSpleen:
splenomegaly

Hematology:
anemia
pancytopenia
thrombocytopenia
atypical lymphocytosis

Immunology:
lymphadenopathy
normal number of b cells
normal number of t cells
combined variable immunodeficiency involving b and t cells
reduced cd4+/cd8+ ratio with cd8+ predominance
more
Respiratory Lung:
lymphoid granulomatosis


Clinical features from OMIM:

308240

Human phenotypes related to Lymphoproliferative Syndrome, X-Linked, 1:

59 32 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 splenomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0001744
2 anemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001903
3 hepatomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0002240
4 lymphoma 59 32 frequent (33%) Frequent (79-30%) HP:0002665
5 lymphadenopathy 59 32 frequent (33%) Frequent (79-30%) HP:0002716
6 decreased antibody level in blood 59 32 frequent (33%) Frequent (79-30%) HP:0004313
7 cellular immunodeficiency 59 32 hallmark (90%) Very frequent (99-80%) HP:0005374
8 meningitis 32 HP:0001287
9 thrombocytopenia 32 HP:0001873
10 pancytopenia 32 HP:0001876
11 encephalitis 32 HP:0002383
12 hepatic encephalopathy 32 HP:0002480
13 immunodeficiency 32 HP:0002721
14 increased igm level 32 HP:0003496
15 igg deficiency 32 HP:0004315
16 fulminant hepatitis 32 HP:0004787
17 reduced natural killer cell activity 32 HP:0012178
18 recurrent pharyngitis 32 HP:0100776

MGI Mouse Phenotypes related to Lymphoproliferative Syndrome, X-Linked, 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.5 XIAP CD226 CD244 PTPN11 SH2D1A SLAMF1
2 immune system MP:0005387 9.23 CD226 CD244 PTPN11 SH2D1A SLAMF1 STXBP2

Drugs & Therapeutics for Lymphoproliferative Syndrome, X-Linked, 1

Drugs for Lymphoproliferative Syndrome, X-Linked, 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 68)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Busulfan Approved, Investigational Phase 2, Phase 3,Not Applicable 55-98-1 2478
2
Cyclophosphamide Approved, Investigational Phase 2, Phase 3,Not Applicable 50-18-0, 6055-19-2 2907
3 Alkylating Agents Phase 2, Phase 3,Not Applicable
4 Antineoplastic Agents, Alkylating Phase 2, Phase 3,Not Applicable
5 Immunosuppressive Agents Phase 2, Phase 3,Not Applicable
6
Miconazole Approved, Investigational, Vet_approved Phase 2,Not Applicable 22916-47-8 4189
7
alemtuzumab Approved, Investigational Phase 2,Not Applicable 216503-57-0
8
Fludarabine Approved Phase 2,Not Applicable 21679-14-1, 75607-67-9 30751
9
Melphalan Approved Phase 2,Not Applicable 148-82-3 4053 460612
10
Mycophenolate mofetil Approved, Investigational Phase 2 128794-94-5 5281078
11
Mycophenolic acid Approved Phase 2 24280-93-1 446541
12
Cytarabine Approved, Investigational Phase 2 147-94-4 6253
13
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
14 Antifungal Agents Phase 2,Not Applicable
15 Anti-Infective Agents Phase 2,Not Applicable
16 Antilymphocyte Serum Phase 2,Not Applicable
17 Antimetabolites Phase 2,Not Applicable
18 Antimetabolites, Antineoplastic Phase 2,Not Applicable
19 Antirheumatic Agents Phase 2,Not Applicable
20 Calcineurin Inhibitors Phase 2,Not Applicable
21 Cyclosporins Phase 2,Not Applicable
22 Dermatologic Agents Phase 2,Not Applicable
23 Anti-Bacterial Agents Phase 2
24 Antibiotics, Antitubercular Phase 2
25 Antibodies Phase 2
26 Antitubercular Agents Phase 2
27 gamma-Globulins Phase 2
28 Immunoglobulins Phase 2
29 Immunoglobulins, Intravenous Phase 2
30 Rho(D) Immune Globulin Phase 2
31 Antiviral Agents Phase 2,Not Applicable
32 Tin Fluorides Phase 2
33
Etoposide Approved Not Applicable 33419-42-0 36462
34
Lenograstim Approved, Investigational Not Applicable 135968-09-1
35
Methotrexate Approved Not Applicable 1959-05-2, 59-05-2 126941
36
Mesna Approved, Investigational Not Applicable 3375-50-6 598
37
Vidarabine Approved, Investigational Not Applicable 24356-66-9 32326 21704
38
Methylprednisolone Approved, Vet_approved Not Applicable 83-43-2 6741
39
Prednisolone Approved, Vet_approved Not Applicable 50-24-8 5755
40
Prednisone Approved, Vet_approved Not Applicable 53-03-2 5865
41
Folic Acid Approved, Nutraceutical, Vet_approved Not Applicable 59-30-3 6037
42
leucovorin Approved, Nutraceutical Not Applicable 58-05-9 143 6006
43 Antineoplastic Agents, Phytogenic Not Applicable
44 Etoposide phosphate Not Applicable
45 Folic Acid Antagonists Not Applicable
46 Nucleic Acid Synthesis Inhibitors Not Applicable
47 Topoisomerase Inhibitors Not Applicable
48 Vitamin B Complex Not Applicable
49 Protective Agents Not Applicable
50 Antiemetics Not Applicable

Interventional clinical trials:

(show all 13)
# Name Status NCT ID Phase Drugs
1 T-Cell Depletion and Stem Cell Transplant for Immune Deficiencies and Histiocytic Disorders Terminated NCT00176826 Phase 2, Phase 3 Myeloablative conditioning regimen
2 Stem Cell Transplant for Immunologic or Histiocytic Disorders Completed NCT00176865 Phase 2 Fludarabine;Melphalan;Anti-thymocyte globulin (ATG);Campath 1H;Cyclosporin A;Mycophenolate mofetil;Intravenous immunoglobulin (IVIG)
3 Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells Completed NCT00730314 Phase 1, Phase 2
4 T Cell Depletion for Recipients of HLA Haploidentical Related Donor Stem Cell Grafts Recruiting NCT00368355 Phase 2 Ara-C;Cyclophosphamide
5 Busulfan, Fludarabine, and Thiotepa Conditioning Regimen for Non Malignant Disease Recruiting NCT03513328 Phase 1, Phase 2 Thiotepa--single daily dose;Thiotepa--escalated dose
6 Immune Disorder HSCT Protocol Recruiting NCT01821781 Phase 2 Transplant preparative regimen of alemtuzumab, fludarabine, thiotepa, and melphalan
7 Related Hematopoietic Stem Cell Transplantation (HSCT) for Genetic Diseases of Blood Cells Terminated NCT02512679 Phase 2 Cyclophosphamide Dose Level 1;Cyclophosphamide Dose Level 2;Cyclophosphamide Dose Level 3;Cyclophosphamide Dose Level 4
8 Administration of Donor T Cells With the Caspase-9 Suicide Gene Active, not recruiting NCT01494103 Phase 1 AP1903
9 CASPALLO: Allodepleted T Cells Transduced With Inducible Caspase 9 Suicide Gene Active, not recruiting NCT00710892 Phase 1
10 Pilot Study of Unrelated Donor Hematopoietic Stem Cell Transplantation in Patients With Life Threatening Hemophagocytic Disorders Unknown status NCT00006056 Not Applicable anti-thymocyte globulin;busulfan;cyclophosphamide;cyclosporine;etoposide;filgrastim;methotrexate
11 Genetic Studies of X-linked Lymphoproliferative Disease Completed NCT00359411
12 Allogeneic Hematopoietic Stem Cell Transplant for Patients With Primary Immune Deficiencies Recruiting NCT01652092 Not Applicable Alemtuzumab 0.3 mg;Cyclophosphamide;Busulfan;Fludarabine phosphate 40 mg;Melphalan;Alemtuzumab 0.2 mg;Busulfan;Fludarabine phosphate 30 mg;MESNA
13 Allogeneic Bone Marrow Transplantation in Patients With Primary Immunodeficiencies Terminated NCT00006054 Not Applicable anti-thymocyte globulin;busulfan;cyclophosphamide;cyclosporine;etoposide;methotrexate;methylprednisolone;prednisone

Search NIH Clinical Center for Lymphoproliferative Syndrome, X-Linked, 1

Genetic Tests for Lymphoproliferative Syndrome, X-Linked, 1

Genetic tests related to Lymphoproliferative Syndrome, X-Linked, 1:

# Genetic test Affiliating Genes
1 Lymphoproliferative Syndrome 1, X-Linked 29 SH2D1A XIAP

Anatomical Context for Lymphoproliferative Syndrome, X-Linked, 1

MalaCards organs/tissues related to Lymphoproliferative Syndrome, X-Linked, 1:

41
T Cells, B Cells, Spleen, Skin, Bone, Bone Marrow, Thymus

Publications for Lymphoproliferative Syndrome, X-Linked, 1

Articles related to Lymphoproliferative Syndrome, X-Linked, 1:

(show all 32)
# Title Authors Year
1
Adaptive reprogramming of NK cells in X-linked lymphoproliferative syndrome. ( 29233820 )
2018
2
Identification of a novel nonsense mutation in SH2D1A in a patient with X-linked lymphoproliferative syndrome type 1: a case report. ( 29649976 )
2018
3
Novel Mutations in SH2D1A Gene in X-linked Lymphoproliferative Syndrome, Diagnosed After B-Cell Non-Hodgkin Lymphoma. ( 28267077 )
2017
4
Variable clinical phenotypes of X-linked lymphoproliferative syndrome in China: Report of five cases with three novel mutations and review of the literature. ( 27288720 )
2016
5
X-linked inhibitor of apoptosis protein deficiency: more than an X-linked lymphoproliferative syndrome. ( 25737324 )
2015
6
Clinical and molecular characteristics of Chinese patients with X-linked lymphoproliferative syndrome type 1. ( 25044636 )
2014
7
Interleukin-21 overexpression dominates T cell response to Epstein-Barr virus in a fatal case of X-linked lymphoproliferative syndrome type 1. ( 23467775 )
2013
8
Clinical and genetic features of 5 Chinese patients with X-linked lymphoproliferative syndrome. ( 23944711 )
2013
9
Characterization of Epstein-Barr virus (EBV)-infected cells in EBV-associated hemophagocytic lymphohistiocytosis in two patients with X-linked lymphoproliferative syndrome type 1 and type 2. ( 22325832 )
2012
10
A unique clinical presentation of X-linked lymphoproliferative syndrome with a novel mutation in SH2D1A and review of the literature. ( 20975587 )
2011
11
X-Linked Lymphoproliferative Syndrome and Common Variable Immunodeficiency May Not Be Differentiated by SH2D1A and XIAP/BIRC4 Genes Sequence Analysis. ( 21541208 )
2011
12
X-linked lymphoproliferative syndrome: a genetic condition typified by the triad of infection, immunodeficiency and lymphoma. ( 21083659 )
2011
13
Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency). ( 21119115 )
2011
14
Phenotypic differences between mice deficient in XIAP and SAP, two factors targeted in X-linked lymphoproliferative syndrome (XLP). ( 19595300 )
2009
15
The X-linked lymphoproliferative syndrome gene product SAP regulates B cell function through the FcgammaRIIB receptor. ( 18662772 )
2008
16
Follicular lymphoma in a X-linked lymphoproliferative syndrome carrier female. ( 18702745 )
2008
17
XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome. ( 17080092 )
2006
18
Treatment of HCV infection with interferon alpha-2b and ribavirin in a patient with X-linked lymphoproliferative syndrome. ( 16463052 )
2006
19
X-linked lymphoproliferative syndrome presenting with systemic lymphocytic vasculitis. ( 15682426 )
2005
20
The impact of telomere erosion on memory CD8+ T cells in patients with X-linked lymphoproliferative syndrome. ( 15992610 )
2005
21
Defective NKT cell development in mice and humans lacking the adapter SAP, the X-linked lymphoproliferative syndrome gene product. ( 15738056 )
2005
22
Dual functional roles for the X-linked lymphoproliferative syndrome gene product SAP/SH2D1A in signaling through the signaling lymphocyte activation molecule (SLAM) family of immune receptors. ( 12458214 )
2003
23
Distinct interactions of the X-linked lymphoproliferative syndrome gene product SAP with cytoplasmic domains of members of the CD2 receptor family. ( 11414741 )
2001
24
Abnormal T cell receptor signal transduction of CD4 Th cells in X-linked lymphoproliferative syndrome. ( 11509608 )
2001
25
Functional requirement for SAP in 2B4-mediated activation of human natural killer cells as revealed by the X-linked lymphoproliferative syndrome. ( 10975798 )
2000
26
Potential pathways for regulation of NK and T cell responses: differential X-linked lymphoproliferative syndrome gene product SAP interactions with SLAM and 2B4. ( 11099315 )
2000
27
The X-linked lymphoproliferative syndrome gene product SH2D1A associates with p62dok (Dok1) and activates NF-kappa B. ( 10852966 )
2000
28
A boy with fatal infectious mononucleosis suspected as the first Japanese case of X-linked lymphoproliferative syndrome. ( 10225392 )
1998
29
Inactivating mutations in an SH2 domain-encoding gene in X-linked lymphoproliferative syndrome. ( 9811875 )
1998
30
Physical mapping of Xq24-25 around loci closely linked to the X-linked lymphoproliferative syndrome locus: an overlapping YAC map and linkage between DXS12, DXS42, and DXS37. ( 8069652 )
1993
31
Epstein-Barr virus-induced diseases in the X-linked lymphoproliferative syndrome and related disorders. ( 2990590 )
1985
32
X-linked lymphoproliferative syndrome. An immunodeficiency disorder with acquired agammaglobulinemia, fatal infectious mononucleosis, or malignant lymphoma. ( 6894075 )
1981

Variations for Lymphoproliferative Syndrome, X-Linked, 1

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

75 (show all 19)
# Symbol AA change Variation ID SNP ID
1 SH2D1A p.Arg32Thr VAR_005612 rs111033624
2 SH2D1A p.Thr68Ile VAR_005613 rs111033627
3 SH2D1A p.Pro101Leu VAR_005614 rs111033626
4 SH2D1A p.Arg55Leu VAR_018307 rs111033630
5 SH2D1A p.Tyr7Cys VAR_048005
6 SH2D1A p.His8Asp VAR_048006
7 SH2D1A p.Gly16Asp VAR_048007
8 SH2D1A p.Gly27Ser VAR_048008
9 SH2D1A p.Ser28Arg VAR_048009
10 SH2D1A p.Leu31Pro VAR_048010
11 SH2D1A p.Asp33Tyr VAR_048011
12 SH2D1A p.Cys42Trp VAR_048012
13 SH2D1A p.Gly49Val VAR_048013
14 SH2D1A p.Thr53Ile VAR_048014
15 SH2D1A p.Tyr54Cys VAR_048015
16 SH2D1A p.Ile84Thr VAR_048017
17 SH2D1A p.Phe87Ser VAR_048018
18 SH2D1A p.Gln99Pro VAR_048019
19 SH2D1A p.Val102Gly VAR_048020

ClinVar genetic disease variations for Lymphoproliferative Syndrome, X-Linked, 1:

6
(show all 27)
# Gene Variation Type Significance SNP ID Assembly Location
1 SH2D1A NM_002351.4(SH2D1A): c.163C> T (p.Arg55Ter) single nucleotide variant Pathogenic rs111033623 GRCh37 Chromosome X, 123499636: 123499636
2 SH2D1A NM_002351.4(SH2D1A): c.163C> T (p.Arg55Ter) single nucleotide variant Pathogenic rs111033623 GRCh38 Chromosome X, 124365786: 124365786
3 SH2D1A NM_002351.4(SH2D1A): c.172C> T (p.Gln58Ter) single nucleotide variant Pathogenic rs111033628 GRCh37 Chromosome X, 123499645: 123499645
4 SH2D1A NM_002351.4(SH2D1A): c.172C> T (p.Gln58Ter) single nucleotide variant Pathogenic rs111033628 GRCh38 Chromosome X, 124365795: 124365795
5 SH2D1A SH2D1A, 159-BP DEL deletion Pathogenic
6 SH2D1A NM_002351.4(SH2D1A): c.95G> C (p.Arg32Thr) single nucleotide variant Pathogenic rs111033624 GRCh37 Chromosome X, 123480587: 123480587
7 SH2D1A NM_002351.4(SH2D1A): c.95G> C (p.Arg32Thr) single nucleotide variant Pathogenic rs111033624 GRCh38 Chromosome X, 124346737: 124346737
8 SH2D1A SH2D1A, IVS2AS, G-T, -1 single nucleotide variant Pathogenic
9 SH2D1A NM_002351.4(SH2D1A): c.385T> A (p.Ter129Arg) single nucleotide variant Pathogenic rs111033625 GRCh37 Chromosome X, 123505239: 123505239
10 SH2D1A NM_002351.4(SH2D1A): c.385T> A (p.Ter129Arg) single nucleotide variant Pathogenic rs111033625 GRCh38 Chromosome X, 124371389: 124371389
11 SH2D1A NM_002351.4(SH2D1A): c.302C> T (p.Pro101Leu) single nucleotide variant Pathogenic rs111033626 GRCh37 Chromosome X, 123504126: 123504126
12 SH2D1A NM_002351.4(SH2D1A): c.302C> T (p.Pro101Leu) single nucleotide variant Pathogenic rs111033626 GRCh38 Chromosome X, 124370276: 124370276
13 SH2D1A NM_002351.4(SH2D1A): c.203C> T (p.Thr68Ile) single nucleotide variant Pathogenic rs111033627 GRCh37 Chromosome X, 123504027: 123504027
14 SH2D1A NM_002351.4(SH2D1A): c.203C> T (p.Thr68Ile) single nucleotide variant Pathogenic rs111033627 GRCh38 Chromosome X, 124370177: 124370177
15 SH2D1A SH2D1A, -10C-T single nucleotide variant Pathogenic
16 SH2D1A SH2D1A, EX1DEL deletion Pathogenic
17 SH2D1A NM_002351.4(SH2D1A): c.3G> T (p.Met1Ile) single nucleotide variant Pathogenic rs111033629 GRCh37 Chromosome X, 123480495: 123480495
18 SH2D1A NM_002351.4(SH2D1A): c.3G> T (p.Met1Ile) single nucleotide variant Pathogenic rs111033629 GRCh38 Chromosome X, 124346645: 124346645
19 SH2D1A SH2D1A, 163C-T single nucleotide variant Pathogenic
20 SH2D1A NM_002351.4(SH2D1A): c.164G> T (p.Arg55Leu) single nucleotide variant Pathogenic rs111033630 GRCh37 Chromosome X, 123499637: 123499637
21 SH2D1A NM_002351.4(SH2D1A): c.164G> T (p.Arg55Leu) single nucleotide variant Pathogenic rs111033630 GRCh38 Chromosome X, 124365787: 124365787
22 SH2D1A NM_002351.4(SH2D1A): c.137+5G> C single nucleotide variant Pathogenic rs587777612 GRCh37 Chromosome X, 123480634: 123480634
23 SH2D1A NM_002351.4(SH2D1A): c.137+5G> C single nucleotide variant Pathogenic rs587777612 GRCh38 Chromosome X, 124346784: 124346784
24 SH2D1A NM_002351.4(SH2D1A): c.48C> A (p.Gly16=) single nucleotide variant Benign/Likely benign rs72610640 GRCh37 Chromosome X, 123480540: 123480540
25 SH2D1A NM_002351.4(SH2D1A): c.48C> A (p.Gly16=) single nucleotide variant Benign/Likely benign rs72610640 GRCh38 Chromosome X, 124346690: 124346690
26 SH2D1A NM_002351.4(SH2D1A): c.116G> T (p.Gly39Val) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 124346758: 124346758
27 SH2D1A NM_002351.4(SH2D1A): c.116G> T (p.Gly39Val) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 123480608: 123480608

Expression for Lymphoproliferative Syndrome, X-Linked, 1

Search GEO for disease gene expression data for Lymphoproliferative Syndrome, X-Linked, 1.

Pathways for Lymphoproliferative Syndrome, X-Linked, 1

Pathways related to Lymphoproliferative Syndrome, X-Linked, 1 according to KEGG:

37
# Name Kegg Source Accession
1 Natural killer cell mediated cytotoxicity hsa04650
2 Apoptosis hsa04210

GO Terms for Lymphoproliferative Syndrome, X-Linked, 1

Biological processes related to Lymphoproliferative Syndrome, X-Linked, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 9.77 CD226 CD244 SLAMF1 TENM1 TOLLIP
2 adaptive immune response GO:0002250 9.33 CD244 SH2D1A SLAMF1
3 positive regulation of signal transduction GO:0009967 9.32 PTPN11 SH2D1A
4 heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules GO:0007157 9.26 CD226 TENM1
5 innate immune response GO:0045087 9.26 CD244 SH2D1A SLAMF1 TOLLIP
6 positive regulation of natural killer cell mediated cytotoxicity GO:0045954 8.62 CD226 SH2D1A

Molecular functions related to Lymphoproliferative Syndrome, X-Linked, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 SH3/SH2 adaptor activity GO:0005070 8.96 PTPN11 SH2D1A
2 cell adhesion molecule binding GO:0050839 8.8 CD226 PTPN11 TENM1

Sources for Lymphoproliferative Syndrome, X-Linked, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
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38 LifeMap
40 LOVD
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46 MGI
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
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