MCID: XLN234
MIFTS: 23

X-Linked Lymphoproliferative Disease Due to Sh2d1a Deficiency

Categories: Immune diseases, Rare diseases

Aliases & Classifications for X-Linked Lymphoproliferative Disease Due to Sh2d1a Deficiency

MalaCards integrated aliases for X-Linked Lymphoproliferative Disease Due to Sh2d1a Deficiency:

Name: X-Linked Lymphoproliferative Disease Due to Sh2d1a Deficiency 60
Lymphoproliferative Syndrome 1, X-Linked 30 6
Lymphoproliferative Syndrome, X-Linked, Type 1 41
X-Linked Lymphoproliferative Syndrome Type 1 60
Sh2d1a/slam-Associated Protein Deficiency 60
Sap Deficiency 60
Xlp1 60
Sap 17

Classifications:



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Orphanet 60 ORPHA538931

Summaries for X-Linked Lymphoproliferative Disease Due to Sh2d1a Deficiency

MalaCards based summary : X-Linked Lymphoproliferative Disease Due to Sh2d1a Deficiency, also known as lymphoproliferative syndrome 1, x-linked, is related to lymphoproliferative syndrome, x-linked, 1 and lymphoproliferative syndrome, x-linked, 2. An important gene associated with X-Linked Lymphoproliferative Disease Due to Sh2d1a Deficiency is SH2D1A (SH2 Domain Containing 1A). Affiliated tissues include t cells, kidney and eye.

Related Diseases for X-Linked Lymphoproliferative Disease Due to Sh2d1a Deficiency

Diseases related to X-Linked Lymphoproliferative Disease Due to Sh2d1a Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 100)
# Related Disease Score Top Affiliating Genes
1 lymphoproliferative syndrome, x-linked, 1 32.5 SH2D1A XIAP
2 lymphoproliferative syndrome, x-linked, 2 31.2 SH2D1A XIAP
3 hemophagocytic lymphohistiocytosis 29.5 SH2D1A XIAP
4 lymphoproliferative syndrome 29.3 SH2D1A XIAP
5 metachromatic leukodystrophy due to saposin b deficiency 11.6
6 combined saposin deficiency 11.4
7 encephalopathy due to prosaposin deficiency 11.2
8 lymphoproliferative syndrome 1 11.1
9 lymphoproliferative syndrome 2 11.1
10 lymphoproliferative syndrome 3 11.1
11 pulmonary alveolar microlithiasis 10.4
12 lymphoma 10.1
13 central nervous system lymphoma 10.1
14 primary central nervous system lymphoma 10.1
15 polycythemia vera 10.1
16 haemophilus influenzae 10.1
17 cardiac arrest 10.0
18 acute pancreatitis 10.0
19 mouth disease 10.0
20 pancreatitis 10.0
21 amyloidosis 10.0
22 rheumatoid arthritis 9.9
23 indifference to pain, congenital, autosomal recessive 9.9
24 metachromatic leukodystrophy 9.9
25 myeloma, multiple 9.9
26 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 9.9
27 helix syndrome 9.9
28 arthritis 9.9
29 common variable immunodeficiency 9.9
30 keratopathy 9.9
31 aphasia 9.9
32 leukodystrophy 9.9
33 allergic encephalomyelitis 9.9
34 streptococcal group a invasive disease 9.9
35 glomerulonephritis 9.9
36 colitis 9.9
37 agammaglobulinemia 9.9
38 gastritis 9.9
39 encephalitis 9.9
40 limbic encephalitis 9.9
41 alzheimer disease 9.8
42 amyotrophic lateral sclerosis 1 9.8
43 autoimmune disease 9.8
44 radin blood group antigen 9.8
45 burkitt lymphoma 9.8
46 breast cancer 9.8
47 diabetes mellitus, noninsulin-dependent 9.8
48 systemic lupus erythematosus 9.8
49 neutrophil migration 9.8
50 otitis media 9.8

Graphical network of the top 20 diseases related to X-Linked Lymphoproliferative Disease Due to Sh2d1a Deficiency:



Diseases related to X-Linked Lymphoproliferative Disease Due to Sh2d1a Deficiency

Symptoms & Phenotypes for X-Linked Lymphoproliferative Disease Due to Sh2d1a Deficiency

Drugs & Therapeutics for X-Linked Lymphoproliferative Disease Due to Sh2d1a Deficiency

Search Clinical Trials , NIH Clinical Center for X-Linked Lymphoproliferative Disease Due to Sh2d1a Deficiency

Genetic Tests for X-Linked Lymphoproliferative Disease Due to Sh2d1a Deficiency

Genetic tests related to X-Linked Lymphoproliferative Disease Due to Sh2d1a Deficiency:

# Genetic test Affiliating Genes
1 Lymphoproliferative Syndrome 1, X-Linked 30 SH2D1A XIAP

Anatomical Context for X-Linked Lymphoproliferative Disease Due to Sh2d1a Deficiency

MalaCards organs/tissues related to X-Linked Lymphoproliferative Disease Due to Sh2d1a Deficiency:

42
T Cells, Kidney, Eye, Ovary, Neutrophil, Cortex, Nk Cells

Publications for X-Linked Lymphoproliferative Disease Due to Sh2d1a Deficiency

Articles related to X-Linked Lymphoproliferative Disease Due to Sh2d1a Deficiency:

(show all 17)
# Title Authors Year
1
An 18-Year-Old Male With X-linked Lymphoproliferative Syndrome Type 1 Who Developed Primary Central Nervous System Lymphoma 6 Months After Primary Epstein-Barr Virus Infection. ( 30676439 )
2019
2
Modification of cellular and humoral immunity by somatically reverted T cells in X-linked lymphoproliferative syndrome type 1. ( 30342818 )
2019
3
Identification of a novel nonsense mutation in SH2D1A in a patient with X-linked lymphoproliferative syndrome type 1: a case report. ( 29649976 )
2018
4
Hematopoietic cell transplantation for asymptomatic X-linked lymphoproliferative syndrome type 1. ( 30459818 )
2018
5
Clinical and molecular characteristics of Chinese patients with X-linked lymphoproliferative syndrome type 1. ( 25044636 )
2014
6
Intronic SH2D1A mutation with impaired SAP expression and agammaglobulinemia. ( 23280491 )
2013
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
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
9
Clinical features and outcome of X-linked lymphoproliferative syndrome type 1 (SAP deficiency) in Japan identified by the combination of flow cytometric assay and genetic analysis. ( 22433061 )
2012
10
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
11
Structural basis for SH2D1A mutations in X-linked lymphoproliferative disease. ( 10694488 )
2000
12
Recurrent B-cell non-Hodgkin's lymphoma in two brothers with X-linked lymphoproliferative disease without evidence for Epstein-Barr virus infection. ( 10691868 )
2000
13
X-linked lymphoproliferative disease. 2B4 molecules displaying inhibitory rather than activating function are responsible for the inability of natural killer cells to kill Epstein-Barr virus-infected cells. ( 10934222 )
2000
14
Defective NK cell activation in X-linked lymphoproliferative disease. ( 11034354 )
2000
15
Epstein-Barr virus-negative boys with non-Hodgkin lymphoma are mutated in the SH2D1A gene, as are patients with X-linked lymphoproliferative disease (XLP). ( 10556288 )
1999
16
Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene. ( 9771704 )
1998
17
RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression. ( 3658675 )
1987

Variations for X-Linked Lymphoproliferative Disease Due to Sh2d1a Deficiency

ClinVar genetic disease variations for X-Linked Lymphoproliferative Disease Due to Sh2d1a Deficiency:

6 (show all 41)
# 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 XIAP NM_001167.3(XIAP): c.844G> A (p.Glu282Lys) single nucleotide variant Uncertain significance rs777303823 GRCh37 Chromosome X, 123020356: 123020356
25 XIAP NM_001167.3(XIAP): c.844G> A (p.Glu282Lys) single nucleotide variant Uncertain significance rs777303823 GRCh38 Chromosome X, 123886506: 123886506
26 SH2D1A NM_002351.4(SH2D1A): c.48C> A (p.Gly16=) single nucleotide variant Benign/Likely benign rs72610640 GRCh37 Chromosome X, 123480540: 123480540
27 SH2D1A NM_002351.4(SH2D1A): c.48C> A (p.Gly16=) single nucleotide variant Benign/Likely benign rs72610640 GRCh38 Chromosome X, 124346690: 124346690
28 SH2D1A NM_002351.4(SH2D1A): c.116G> T (p.Gly39Val) single nucleotide variant Uncertain significance rs1556619338 GRCh37 Chromosome X, 123480608: 123480608
29 SH2D1A NM_002351.4(SH2D1A): c.116G> T (p.Gly39Val) single nucleotide variant Uncertain significance rs1556619338 GRCh38 Chromosome X, 124346758: 124346758
30 SH2D1A NM_002351.4(SH2D1A): c.5A> G (p.Asp2Gly) single nucleotide variant Likely pathogenic rs1556619319 GRCh38 Chromosome X, 124346647: 124346647
31 SH2D1A NM_002351.4(SH2D1A): c.5A> G (p.Asp2Gly) single nucleotide variant Likely pathogenic rs1556619319 GRCh37 Chromosome X, 123480497: 123480497
32 SH2D1A NM_002351.4(SH2D1A): c.192G> A (p.Trp64Ter) single nucleotide variant Pathogenic rs1556620706 GRCh37 Chromosome X, 123499665: 123499665
33 SH2D1A NM_002351.4(SH2D1A): c.192G> A (p.Trp64Ter) single nucleotide variant Pathogenic rs1556620706 GRCh38 Chromosome X, 124365815: 124365815
34 SH2D1A NM_002351.4(SH2D1A): c.385T> C (p.Ter129Arg) single nucleotide variant Likely pathogenic rs111033625 GRCh38 Chromosome X, 124371389: 124371389
35 SH2D1A NM_002351.4(SH2D1A): c.385T> C (p.Ter129Arg) single nucleotide variant Likely pathogenic rs111033625 GRCh37 Chromosome X, 123505239: 123505239
36 SH2D1A NM_002351.4(SH2D1A): c.138-3C> G single nucleotide variant Likely pathogenic rs1556620697 GRCh37 Chromosome X, 123499608: 123499608
37 SH2D1A NM_002351.4(SH2D1A): c.138-3C> G single nucleotide variant Likely pathogenic rs1556620697 GRCh38 Chromosome X, 124365758: 124365758
38 SH2D1A NC_000023.11: g.(?_124346297)_(124371411_?)del deletion Pathogenic GRCh38 Chromosome X, 124346297: 124371411
39 SH2D1A NC_000023.11: g.(?_124346297)_(124371411_?)del deletion Pathogenic GRCh37 Chromosome X, 123480147: 123505261
40 SH2D1A NC_000023.11: g.(?_124365741)_(124371411_?)del deletion Pathogenic GRCh38 Chromosome X, 124365741: 124371411
41 SH2D1A NC_000023.11: g.(?_124365741)_(124371411_?)del deletion Pathogenic GRCh37 Chromosome X, 123499591: 123505261

Expression for X-Linked Lymphoproliferative Disease Due to Sh2d1a Deficiency

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Sources for X-Linked Lymphoproliferative Disease Due to Sh2d1a Deficiency

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