LPFS1
MCID: LYM106
MIFTS: 47

Lymphoproliferative Syndrome 1 (LPFS1)

Categories: Blood diseases, Cancer diseases, Genetic diseases, Immune diseases, Infectious diseases, Nephrological diseases, Rare diseases
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Aliases & Classifications for Lymphoproliferative Syndrome 1

MalaCards integrated aliases for Lymphoproliferative Syndrome 1:

Name: Lymphoproliferative Syndrome 1 57 11 73 28 5 14 71
Lymphoproliferative Syndrome, Ebv-Associated, Autosomal, 1 73 12 38
Lpfs1 57 11 73
Autosomal Recessive Lymphoproliferative Disease Due to Itk Deficiency 58
Combined Immunodeficiency Due to Itk Deficiency 58
Itk Deficiency 58

Characteristics:


Inheritance:

Autosomal recessive 57

Prevelance:

Combined Immunodeficiency Due to Itk Deficiency: <1/1000000 (Worldwide) 58

Age Of Onset:

Combined Immunodeficiency Due to Itk Deficiency: Adolescent,Childhood 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset in childhood
fatal without bone marrow transplantation


Classifications:

Orphanet: 58  
Rare immunological diseases


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) (Updated 08-Dec-2022)

MalaCards based summary: Lymphoproliferative Syndrome 1, also known as lymphoproliferative syndrome, ebv-associated, autosomal, 1, is related to lymphoproliferative syndrome, x-linked, 1 and dysgammaglobulinemia. An important gene associated with Lymphoproliferative Syndrome 1 is ITK (IL2 Inducible T Cell Kinase), and among its related pathways/superpathways are Apoptosis and Autophagy and Apoptosis and survival FAS signaling cascades. Affiliated tissues include bone marrow, t cells and smooth muscle, and related phenotypes are splenomegaly and hepatomegaly

Orphanet: 58 A rare autosomal recessive primary immunodeficiency characterized by susceptibility to Epstein-Barr virus (EBV)-associated lymphoproliferative disorders such as malignant B-cell proliferation, Hodgkin lymphoma, B-cell lymphoma, lymphoid granulomatosis, hemophagocytic lymphohistiocytosis, and smooth muscle tumor. Patients present persistent symptoms of infectious mononucleosis including recurrent febrile episodes, lymphadenopathies, and hepatosplenomegaly, accompanied by high EBV viral load in the blood. Additional manifestations are autoimmune diseases like hemolytic anemia or renal disease.

Disease Ontology: 11 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: 73 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.

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 Lymphoproliferative Syndrome 3

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

(show all 44)
# Related Disease Score Top Affiliating Genes
1 lymphoproliferative syndrome, x-linked, 1 30.9 XIAP UNC13D STXBP2 STX11 PRF1 ITK
2 dysgammaglobulinemia 30.2 XIAP STXBP2
3 hemophagocytic lymphohistiocytosis, familial, 1 29.6 UNC13D STXBP2 STX11 PRF1
4 lymphoproliferative syndrome 29.0 XIAP UNC13D PRF1 ITK CD52
5 autoimmune lymphoproliferative syndrome 28.8 XIAP UNC13D STXBP2 PRF1 ITK IL2RA
6 hemophagocytic lymphohistiocytosis 28.3 XIAP UNC13D STXBP2 STX11 PRF1 ITK
7 psoriasis 15 10.2 UNC13D STXBP2
8 hermansky-pudlak syndrome 2 10.2 STXBP2 STX11
9 disseminated eosinophilic collagen disease 10.1 IL2RA CD52
10 lymphopenia 10.1
11 familial hemophagocytic lymphohistiocytosis 5 10.1 UNC13D STXBP2 STX11
12 hemophagocytic lymphohistiocytosis, familial, 4 10.1 UNC13D STXBP2 STX11
13 acute hemorrhagic encephalitis 10.1 UNC13D STXBP2 STX11
14 hemophagocytic lymphohistiocytosis, familial, 3 10.1 UNC13D STXBP2 STX11
15 piebald trait 10.0 UNC13D STXBP2 STX11
16 schindler disease, type i 10.0 UNC13D CASP9
17 pure red-cell aplasia 10.0 HP CD52
18 immunodeficiency, x-linked, with magnesium defect, epstein-barr virus infection, and neoplasia 9.9 UNC13D STXBP2 STX11 ITK
19 gastrointestinal defects and immunodeficiency syndrome 1 9.9 XIAP STXBP2
20 primary thrombocytopenia 9.9 HP CD52
21 pfeiffer syndrome 9.9
22 burkitt lymphoma 9.9
23 lymphoma 9.9
24 lymphomatoid granulomatosis 9.9
25 spondylarthropathy 9.9 HP CD163
26 selective immunoglobulin deficiency disease 9.9 XIAP UNC13D STXBP2 STX11
27 atrial septal defect 8 9.8 HP CD163
28 autoimmune disease of blood 9.8 HP CD52
29 autoinflammatory syndrome 9.8 UNC13D STXBP2 PRF1
30 lymphoproliferative syndrome, x-linked, 2 9.7 XIAP UNC13D STXBP2 STX11 ITK
31 lymphoproliferative syndrome 2 9.7 XIAP UNC13D STXBP2 STX11 ITK
32 hemophagocytic lymphohistiocytosis, familial, 2 9.7 UNC13D STXBP2 STX11 PRF1
33 chediak-higashi syndrome 9.7 UNC13D STXBP2 STX11 PRF1
34 macrophage activation syndrome 9.6 UNC13D PRF1 CD163
35 combined immunodeficiency 9.5 UNC13D PRF1 ITK IL2RA
36 celiac disease 1 9.5 PRF1 IL2RA HP
37 griscelli syndrome, type 2 9.4 XIAP UNC13D STXBP2 STX11 PRF1
38 griscelli syndrome 9.4 XIAP UNC13D STXBP2 STX11 PRF1
39 hermansky-pudlak syndrome 9.4 XIAP UNC13D STXBP2 STX11 PRF1
40 autoimmune disease 9.3 PRF1 IL2RA IL16 CD163
41 multiple sclerosis 9.2 PRF1 IL2RA IL16 CD52
42 lymphoma, non-hodgkin, familial 9.2 XIAP PRF1 IL2RA CD52 CASP9
43 leukemia, chronic lymphocytic 8.9 XIAP PRF1 LPL ITK IL2RA CD52
44 pancytopenia 8.9 XIAP UNC13D STXBP2 STX11 PRF1 ITK

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



Diseases related to Lymphoproliferative Syndrome 1

Symptoms & Phenotypes for Lymphoproliferative Syndrome 1

Human phenotypes related to Lymphoproliferative Syndrome 1:

30 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 splenomegaly 30 Very rare (1%) HP:0001744
2 hepatomegaly 30 Very rare (1%) HP:0002240
3 recurrent infections 30 Very rare (1%) HP:0002719
4 pleural effusion 30 Very rare (1%) HP:0002202
5 lymphadenopathy 30 Very rare (1%) HP:0002716
6 pancytopenia 30 Very rare (1%) HP:0001876
7 leukopenia 30 Very rare (1%) HP:0001882
8 pericardial effusion 30 Very rare (1%) HP:0001698
9 recurrent fever 30 Very rare (1%) HP:0001954
10 decreased circulating igg level 30 Very rare (1%) HP:0004315
11 autoimmune hemolytic anemia 30 Very rare (1%) HP:0001890
12 b-cell lymphoma 30 Very rare (1%) HP:0012191
13 autoimmune thrombocytopenia 30 Very rare (1%) HP:0001973
14 lymphoproliferative disorder 30 Very rare (1%) HP:0005523
15 hodgkin lymphoma 30 Very rare (1%) HP:0012189
16 stomatitis 30 Very rare (1%) HP:0010280
17 persistent ebv viremia 30 Very rare (1%) HP:0020072
18 elevated circulating c-reactive protein concentration 30 Very rare (1%) HP:0011227
19 increased circulating ferritin concentration 30 Very rare (1%) HP:0003281
20 decreased proportion of cd4-positive helper t cells 30 Very rare (1%) HP:0005407
21 elevated erythrocyte sedimentation rate 30 HP:0003565

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Abdomen Spleen:
splenomegaly

Hematology:
anemia
thrombocytopenia
pancytopenia

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
lymphohistiocytosis
more
Neoplasia:
increased risk for lymphoma hodgkin disease

Clinical features from OMIM®:

613011 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Lymphoproliferative Syndrome 1:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 9.7 CASP9 CD163 HP IL16 IL2RA ITK
2 hematopoietic system MP:0005397 9.36 CASP9 CD163 HP IL16 IL2RA ITK

Drugs & Therapeutics for Lymphoproliferative Syndrome 1

Search Clinical Trials, NIH Clinical Center for Lymphoproliferative Syndrome 1

Genetic Tests for Lymphoproliferative Syndrome 1

Genetic tests related to Lymphoproliferative Syndrome 1:

# Genetic test Affiliating Genes
1 Lymphoproliferative Syndrome 1 28 ITK

Anatomical Context for Lymphoproliferative Syndrome 1

Organs/tissues related to Lymphoproliferative Syndrome 1:

MalaCards : Bone Marrow, T Cells, Smooth Muscle, Bone, Liver
ODiseA: Blood And Bone Marrow

Publications for Lymphoproliferative Syndrome 1

Articles related to Lymphoproliferative Syndrome 1:

(show all 27)
# Title Authors PMID Year
1
Girls homozygous for an IL-2-inducible T cell kinase mutation that leads to protein deficiency develop fatal EBV-associated lymphoproliferation. 62 57 5
19425169 2009
2
Loss-of-function mutations within the IL-2 inducible kinase ITK in patients with EBV-associated lymphoproliferative diseases. 57 5
22289921 2012
3
IL-2-inducible T-cell kinase deficiency: clinical presentation and therapeutic approach. 57 5
21109689 2011
4
Interleukin-2-inducible T-cell kinase (ITK) deficiency - clinical and molecular aspects. 62 5
25339095 2014
5
Altered development of CD8+ T cell lineages in mice deficient for the Tec kinases Itk and Rlk. 62 5
16860760 2006
6
Atypical Clinical Course in Pediatric Hodgkin Lymphoma: Association With Germline Mutations in Interleukin-2-inducible T-Cell Kinase. 5
26056787 2015
7
Inherited human ITK deficiency impairs IFN-γ immunity and underlies tuberculosis. 62
36326697 2023
8
ITK deficiency presenting as autoimmune lymphoproliferative syndrome. 62
32628964 2021
9
The Tec Kinase Itk Integrates Naïve T Cell Migration and In Vivo Homeostasis. 62
34566971 2021
10
Magnesium Restores Activity to Peripheral Blood Cells in a Patient With Functionally Impaired Interleukin-2-Inducible T Cell Kinase. 62
31507602 2019
11
Management of XLP-1 and ITK deficiency: The challenges posed by PID with an unpredictable spectrum of disease manifestations. 62
30572125 2019
12
IL-2 Inducible Kinase ITK is Critical for HIV-1 Infection of Jurkat T-cells. 62
29453458 2018
13
Interleukin-2-Inducible T-Cell Kinase Deficiency-New Patients, New Insight? 62
29867957 2018
14
Inducible T Cell Kinase Regulates the Acquisition of Cytolytic Capacity and Degranulation in CD8+ CTLs. 62
28213500 2017
15
Lymphoma Secondary to Congenital and Acquired Immunodeficiency Syndromes at a Turkish Pediatric Oncology Center. 62
27492260 2016
16
ITK Deficiency: How can EBV be Treated Before Lymphoma? 62
26174447 2015
17
High incidence of Epstein-Barr virus (EBV)-positive Hodgkin lymphoma and Hodgkin lymphoma-like B-cell lymphoproliferations with EBV latency profile 2 in children with interleukin-2-inducible T-cell kinase deficiency. 62
25728094 2015
18
Identification of ITK deficiency as a novel genetic cause of idiopathic CD4+ T-cell lymphopenia. 62
25061172 2014
19
Transcriptional regulation of kinases downstream of the T cell receptor: another immunomodulatory mechanism of glucocorticoids. 62
24993777 2014
20
Targeting Interleukin-2-Inducible T-cell Kinase (ITK) in T-Cell Related Diseases. 62
27917390 2014
21
Hematopoietic stem cell transplantation conditioning with use of rituximab in EBV related lymphoproliferative disorders. 62
24584040 2014
22
IL-2-inducible T-cell kinase deficiency with pulmonary manifestations due to disseminated Epstein-Barr virus infection. 62
22487848 2012
23
Transcriptional signatures of Itk-deficient CD3+, CD4+ and CD8+ T-cells. 62
19450280 2009
24
Naive and innate memory phenotype CD4+ T cells have different requirements for active Itk for their development. 62
18453573 2008
25
A key role for Itk in both IFN gamma and IL-4 production by NKT cells. 62
17579028 2007
26
Defective Fas ligand expression and activation-induced cell death in the absence of IL-2-inducible T cell kinase. 62
11859102 2002
27
Increased infections associated with the use of OKT3 for treatment of steroid-resistant rejection in renal transplantation. 62
3276066 1988

Variations for Lymphoproliferative Syndrome 1

ClinVar genetic disease variations for Lymphoproliferative Syndrome 1:

5 (show top 50) (show all 317)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ITK NM_005546.4(ITK):c.1003C>T (p.Arg335Trp) SNV Pathogenic
12741 rs121908191 GRCh37: 5:156668673-156668673
GRCh38: 5:157241663-157241663
2 ITK NM_005546.4(ITK):c.1764C>G (p.Tyr588Ter) SNV Pathogenic
64371 rs397514260 GRCh37: 5:156675990-156675990
GRCh38: 5:157248980-157248980
3 ITK NM_005546.4(ITK):c.86G>A (p.Arg29His) SNV Pathogenic
64372 rs397514261 GRCh37: 5:156608074-156608074
GRCh38: 5:157181063-157181063
4 ITK NM_005546.4(ITK):c.49C>T (p.Gln17Ter) SNV Pathogenic
1456681 GRCh37: 5:156608037-156608037
GRCh38: 5:157181026-157181026
5 ITK NC_000005.9:g.(?_156659330)_(156667225_?)del DEL Pathogenic
1460222 GRCh37: 5:156659330-156667225
GRCh38:
6 ITK NM_005546.4(ITK):c.237G>A (p.Pro79=) SNV Conflicting Interpretations Of Pathogenicity
352458 rs201403794 GRCh37: 5:156635998-156635998
GRCh38: 5:157208987-157208987
7 ITK NM_005546.4(ITK):c.1119A>G (p.Gln373=) SNV Conflicting Interpretations Of Pathogenicity
352472 rs189091977 GRCh37: 5:156670691-156670691
GRCh38: 5:157243681-157243681
8 ITK NM_005546.4(ITK):c.495+12C>T SNV Conflicting Interpretations Of Pathogenicity
352461 rs376728021 GRCh37: 5:156644929-156644929
GRCh38: 5:157217919-157217919
9 ITK NM_005546.4(ITK):c.150G>A (p.Thr50=) SNV Conflicting Interpretations Of Pathogenicity
352457 rs61743239 GRCh37: 5:156635911-156635911
GRCh38: 5:157208900-157208900
10 ITK NM_005546.4(ITK):c.1510A>T (p.Thr504Ser) SNV Conflicting Interpretations Of Pathogenicity
540355 rs151046132 GRCh37: 5:156672796-156672796
GRCh38: 5:157245786-157245786
11 ITK NM_005546.4(ITK):c.139-6C>T SNV Conflicting Interpretations Of Pathogenicity
352456 rs780173849 GRCh37: 5:156635894-156635894
GRCh38: 5:157208883-157208883
12 ITK NM_005546.4(ITK):c.1455C>T (p.Ala485=) SNV Conflicting Interpretations Of Pathogenicity
352474 rs201568204 GRCh37: 5:156672741-156672741
GRCh38: 5:157245731-157245731
13 ITK NM_005546.4(ITK):c.1276C>T (p.Leu426=) SNV Conflicting Interpretations Of Pathogenicity
352473 rs145991142 GRCh37: 5:156671315-156671315
GRCh38: 5:157244305-157244305
14 ITK NM_005546.4(ITK):c.138+13T>C SNV Conflicting Interpretations Of Pathogenicity
905615 rs200603754 GRCh37: 5:156608139-156608139
GRCh38: 5:157181128-157181128
15 ITK NM_005546.4(ITK):c.1563G>A (p.Pro521=) SNV Uncertain Significance
905681 rs767821181 GRCh37: 5:156672939-156672939
GRCh38: 5:157245929-157245929
16 ITK NM_005546.4(ITK):c.1762T>C (p.Tyr588His) SNV Uncertain Significance
906196 rs370632752 GRCh37: 5:156675988-156675988
GRCh38: 5:157248978-157248978
17 ITK NM_005546.4(ITK):c.287G>A (p.Arg96His) SNV Uncertain Significance
934494 rs751865122 GRCh37: 5:156638341-156638341
GRCh38: 5:157211330-157211330
18 ITK NM_005546.4(ITK):c.356A>G (p.Lys119Arg) SNV Uncertain Significance
934760 rs577305220 GRCh37: 5:156641232-156641232
GRCh38: 5:157214221-157214221
19 ITK NM_005546.4(ITK):c.364C>A (p.Pro122Thr) SNV Uncertain Significance
934848 rs1362373639 GRCh37: 5:156641240-156641240
GRCh38: 5:157214229-157214229
20 ITK NM_005546.4(ITK):c.1181G>A (p.Arg394Gln) SNV Uncertain Significance
940469 rs777757937 GRCh37: 5:156670753-156670753
GRCh38: 5:157243743-157243743
21 ITK NM_005546.4(ITK):c.329C>T (p.Thr110Met) SNV Uncertain Significance
942730 rs778357395 GRCh37: 5:156641205-156641205
GRCh38: 5:157214194-157214194
22 ITK NM_005546.4(ITK):c.1082C>T (p.Ser361Leu) SNV Uncertain Significance
944136 rs1031236089 GRCh37: 5:156670654-156670654
GRCh38: 5:157243644-157243644
23 ITK NM_005546.4(ITK):c.1235A>G (p.Lys412Arg) SNV Uncertain Significance
944137 rs953401521 GRCh37: 5:156671274-156671274
GRCh38: 5:157244264-157244264
24 ITK NM_005546.4(ITK):c.741C>A (p.Asp247Glu) SNV Uncertain Significance
947235 rs1294640313 GRCh37: 5:156659377-156659377
GRCh38: 5:157232367-157232367
25 ITK NM_005546.4(ITK):c.1770T>G (p.Ile590Met) SNV Uncertain Significance
949954 rs1755079116 GRCh37: 5:156675996-156675996
GRCh38: 5:157248986-157248986
26 ITK NM_005546.4(ITK):c.1577C>A (p.Ser526Tyr) SNV Uncertain Significance
950029 rs756611419 GRCh37: 5:156672953-156672953
GRCh38: 5:157245943-157245943
27 ITK NM_005546.4(ITK):c.164T>C (p.Ile55Thr) SNV Uncertain Significance
950030 rs200593448 GRCh37: 5:156635925-156635925
GRCh38: 5:157208914-157208914
28 ITK NM_005546.4(ITK):c.823G>A (p.Val275Met) SNV Uncertain Significance
960571 rs780522355 GRCh37: 5:156665173-156665173
GRCh38: 5:157238163-157238163
29 ITK NM_005546.4(ITK):c.386A>G (p.Lys129Arg) SNV Uncertain Significance
1001038 rs201959697 GRCh37: 5:156641262-156641262
GRCh38: 5:157214251-157214251
30 ITK NM_005546.4(ITK):c.586G>A (p.Glu196Lys) SNV Uncertain Significance
1002737 rs777670016 GRCh37: 5:156649963-156649963
GRCh38: 5:157222953-157222953
31 ITK NM_005546.4(ITK):c.1805G>A (p.Arg602Gln) SNV Uncertain Significance
1003141 rs748509752 GRCh37: 5:156679630-156679630
GRCh38: 5:157252620-157252620
32 ITK NM_005546.4(ITK):c.212G>A (p.Ser71Asn) SNV Uncertain Significance
1008736 rs1386860362 GRCh37: 5:156635973-156635973
GRCh38: 5:157208962-157208962
33 ITK NM_005546.4(ITK):c.378G>A (p.Met126Ile) SNV Uncertain Significance
1010930 rs775741366 GRCh37: 5:156641254-156641254
GRCh38: 5:157214243-157214243
34 ITK NM_005546.4(ITK):c.758T>C (p.Leu253Pro) SNV Uncertain Significance
1011286 rs1754675255 GRCh37: 5:156659394-156659394
GRCh38: 5:157232384-157232384
35 ITK NM_005546.4(ITK):c.1124G>T (p.Gly375Val) SNV Uncertain Significance
1014617 rs773691716 GRCh37: 5:156670696-156670696
GRCh38: 5:157243686-157243686
36 ITK NM_005546.4(ITK):c.1075G>C (p.Asp359His) SNV Uncertain Significance
1024741 rs760908622 GRCh37: 5:156670647-156670647
GRCh38: 5:157243637-157243637
37 ITK NM_005546.4(ITK):c.1342C>T (p.Arg448Cys) SNV Uncertain Significance
1035963 rs143652027 GRCh37: 5:156671381-156671381
GRCh38: 5:157244371-157244371
38 ITK NM_005546.4(ITK):c.450G>C (p.Lys150Asn) SNV Uncertain Significance
1039448 rs755833813 GRCh37: 5:156641326-156641326
GRCh38: 5:157214315-157214315
39 ITK NM_005546.4(ITK):c.1283A>G (p.Gln428Arg) SNV Uncertain Significance
1041708 rs1754976541 GRCh37: 5:156671322-156671322
GRCh38: 5:157244312-157244312
40 ITK NM_005546.4(ITK):c.91T>C (p.Phe31Leu) SNV Uncertain Significance
1042777 rs1753503357 GRCh37: 5:156608079-156608079
GRCh38: 5:157181068-157181068
41 ITK NM_005546.4(ITK):c.1709A>G (p.Asp570Gly) SNV Uncertain Significance
1044993 rs962121468 GRCh37: 5:156675935-156675935
GRCh38: 5:157248925-157248925
42 ITK NM_005546.4(ITK):c.1393G>A (p.Asp465Asn) SNV Uncertain Significance
1046045 rs1754979969 GRCh37: 5:156671432-156671432
GRCh38: 5:157244422-157244422
43 ITK NM_005546.4(ITK):c.194T>C (p.Ile65Thr) SNV Uncertain Significance
1047133 rs1286793954 GRCh37: 5:156635955-156635955
GRCh38: 5:157208944-157208944
44 ITK NM_005546.4(ITK):c.1665C>T (p.Gly555=) SNV Uncertain Significance
1057049 GRCh37: 5:156675891-156675891
GRCh38: 5:157248881-157248881
45 ITK NM_005546.4(ITK):c.1618G>A (p.Asp540Asn) SNV Uncertain Significance
1061376 GRCh37: 5:156672994-156672994
GRCh38: 5:157245984-157245984
46 ITK NM_005546.4(ITK):c.*140C>T SNV Uncertain Significance
352479 rs536343015 GRCh37: 5:156679828-156679828
GRCh38: 5:157252818-157252818
47 ITK NM_005546.4(ITK):c.*1767C>A SNV Uncertain Significance
352499 rs184917807 GRCh37: 5:156681455-156681455
GRCh38: 5:157254445-157254445
48 ITK NM_005546.4(ITK):c.*2191C>T SNV Uncertain Significance
352502 rs886060335 GRCh37: 5:156681879-156681879
GRCh38: 5:157254869-157254869
49 ITK NM_005546.4(ITK):c.496-4C>G SNV Uncertain Significance
352462 rs749411240 GRCh37: 5:156649869-156649869
GRCh38: 5:157222859-157222859
50 ITK NM_005546.4(ITK):c.*804T>C SNV Uncertain Significance
352485 rs139794260 GRCh37: 5:156680492-156680492
GRCh38: 5:157253482-157253482

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

73
# Symbol AA change Variation ID SNP ID
1 ITK p.Arg335Trp VAR_063424 rs121908191

Expression for Lymphoproliferative Syndrome 1

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

Pathways for Lymphoproliferative Syndrome 1

GO Terms for Lymphoproliferative Syndrome 1

Cellular components related to Lymphoproliferative Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.86 UNC13D STXBP2 PRF1 LPL IL16 HP
2 cytolytic granule GO:0044194 8.92 STXBP2 PRF1

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

# Name GO ID Score Top Affiliating Genes
1 exocytosis GO:0006887 9.26 UNC13D STXBP2 STX11
2 regulation of mast cell degranulation GO:0043304 8.92 UNC13D STXBP2

Sources for Lymphoproliferative Syndrome 1

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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