SH2D1A gene related symptoms and diseases
All the information presented here about the SH2D1A gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SH2D1A gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Seizures | Very Common - Between 80% and 100% cases |
| Histiocytosis | Very Common - Between 80% and 100% cases |
| Hodgkin lymphoma | Very Common - Between 80% and 100% cases |
| IgG deficiency | Very Common - Between 80% and 100% cases |
| Agammaglobulinemia | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with SH2D1A gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- B-cell lymphoma
- Aplastic anemia
- Immune dysregulation
- Recurrent pharyngitis
- Cellular immunodeficiency
- Lymphocytosis
- Hepatic encephalopathy
- Sarcoma
And 36 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SH2D1A gene
Here you will find a list of rare diseases related to the SH2D1A. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
X-LINKED LYMPHOPROLIFERATIVE DISEASE
Alternate names
X-LINKED LYMPHOPROLIFERATIVE DISEASE Is also known as xlpd, duncan disease, xlp, immunodeficiency 5, infectious mononucleosis, severe, susceptibility to, purtilo syndrome, imd5, ebvs, lymphoproliferative disease, x-linked, epstein-barr virus infection, familial fatal, lyp, ebv infection, severe, susceptibility to, immun
Description
X-linked lymphoproliferative disease is a hereditary immunodeficiency characterized, in the majority of cases, by an inadequate immune response to infection with the Epstein-Barr virus (EBV).
Most common symptoms of X-LINKED LYMPHOPROLIFERATIVE DISEASE
- Seizures
- Neoplasm
- Anemia
- Hepatomegaly
- Fever
More info about X-LINKED LYMPHOPROLIFERATIVE DISEASE
Search interest in SH2D1A
Potential gene panels for SH2D1A gene
X-linked lymphoproliferative syndrome 1 Panel
United States.
By Center for Human Genetics, Inc
This panel specifically test the SH2D1A gene.
More info about this panel United States.
X-linked Lymphoproliferative Disease (XLP): SH2D1A (Full Gene Sequencing) Panel
Canada.
By Molecular Diagnostic Laboratory University of Alberta
This panel specifically test the SH2D1A gene.
More info about this panel Canada.
X-linked Lymphoproliferative Disease (XLP): SH2D1A (Known Mutation) Panel
Canada.
By Molecular Diagnostic Laboratory University of Alberta
This panel specifically test the SH2D1A gene.
More info about this panel Canada.
SH2D1A Sequencing Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the SH2D1A gene.
More info about this panel United States.
Hemophagocytic Lymphohistiocytosis Panel by next generation sequencing (NGS) Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Hemophagocytic Lymphohistiocytosis Panel by next generation sequencing (NGS) that also includes the following genes: SH2D1A SLC7A7 STX11 STXBP2 CD27 LYST UNC13D MAGT1 GATA2 AP3B1
More info about this panel United States.
Hemophagocytic Lymphohistiocytosis Deletion/Duplication Panel Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Hemophagocytic Lymphohistiocytosis Deletion/Duplication Panel that also includes the following genes: SH2D1A SLC7A7 STX11 STXBP2 CD27 LYST UNC13D MAGT1 AP3B1 XIAP
More info about this panel United States.
SH2D1A Deletion/duplication analysis Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the SH2D1A gene.
More info about this panel United States.
Tier 2: Hereditary Lymphoma and Immunodeficiency Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Tier 2: Hereditary Lymphoma and Immunodeficiency Panel that also includes the following genes: BLM SH2D1A BRCA1 BRCA2 STXBP2 FAS CD27 FASLG WAS IKZF1
More info about this panel United States.
SH2D1A Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the SH2D1A gene.
More info about this panel Germany.
Primary Antibody Deficiency Panel, Sequencing and Deletion/Duplication Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics Primary Antibody Deficiency Panel, Sequencing and Deletion/Duplication that also includes the following genes: SH2D1A BTK CD40 CD40LG UNG VAV1 AICDA BLNK CD19 CD79A
More info about this panel United States.
SH2D1A. MLPA testing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the SH2D1A gene.
More info about this panel Spain.
SH2D1A. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the SH2D1A gene.
More info about this panel Spain.
CHOP Comprehensive Hereditary Cancer Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia CHOP Comprehensive Hereditary Cancer Panel that also includes the following genes: RMRP RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A SH2D1A SLC25A13
More info about this panel United States.
Humoral dysfunction Del/Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Humoral dysfunction Del/Dup Panel that also includes the following genes: SH2D1A BTK STAT1 STAT3 CD27 CD40LG UNG IKZF1 AICDA LRBA
More info about this panel United States.
Humoral dysfunction Seq Analysis Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Humoral dysfunction Seq Analysis that also includes the following genes: SH2D1A BTK STAT1 STAT3 CD27 CD40LG UNG IKZF1 AICDA LRBA
More info about this panel United States.
Humoral dysfunction Seq + Del/Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Humoral dysfunction Seq + Del/Dup Panel that also includes the following genes: SH2D1A BTK STAT1 STAT3 CD27 CD40LG UNG IKZF1 AICDA LRBA
More info about this panel United States.
Lymphoproliferative syndrome 1, X-linked (sequence analysis of SH2D1A gene Panel
Portugal.
By CGC Genetics
This panel specifically test the SH2D1A gene.
More info about this panel Portugal.
Hyper IgM Syndrome Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Hyper IgM Syndrome Sequencing Panel with CNV Detection that also includes the following genes: SH2D1A BTK CD40 CD40LG UNG AICDA MRE11 NBN NFKBIA ATM
More info about this panel United States.
Familial Hemophagocytic Lymphohistiocytosis (FHL) Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Familial Hemophagocytic Lymphohistiocytosis (FHL) Sequencing Panel with CNV Detection that also includes the following genes: SH2D1A SLC7A7 BTK STX11 STXBP2 TNFRSF1A CD27 CD70 WAS NLRP3
More info about this panel United States.
Familial Hemophagocytic Lymphohistiocytosis, X-linked Lymphoproliferative Disease via SH2D1A Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the SH2D1A gene.
More info about this panel United States.
Agammaglobulinemia Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Agammaglobulinemia Sequencing Panel with CNV Detection that also includes the following genes: SH2D1A BTK BLNK CD79A CD79B LRRC8A IGHM PIK3R1
More info about this panel United States.
Autoimmune Lymphoproliferative Syndrome/ALPS Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Autoimmune Lymphoproliferative Syndrome/ALPS Sequencing Panel with CNV Detection that also includes the following genes: SH2D1A STAT3 FAS FASLG CASP10 CASP8 LRBA CTLA4 MAGT1 FADD
More info about this panel United States.
SAP (SH2D1A) Gene Panel
United States.
By Immunology Diagnostics Laboratory Seattle Children's Research Institute
This panel specifically test the SH2D1A gene.
More info about this panel United States.
SH2D1A Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht
This panel specifically test the SH2D1A gene.
More info about this panel Netherlands.
HLH/immunedisregulation panel Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht HLH/immunedisregulation panel that also includes the following genes: SH2D1A STX11 STXBP2 LYST UNC13D AP3B1 XIAP PRF1 RAB27A
More info about this panel Netherlands.
Lymphoproliferative syndrome, X-linked type 1 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the SH2D1A gene.
More info about this panel Germany.
Agammaglobulinemia panel Panel
Germany.
By Centogene AG - the Rare Disease Company Agammaglobulinemia panel that also includes the following genes: SH2D1A BTK BLNK CD79A CD79B LRRC8A IGHM IGLL1 PIK3R1
More info about this panel Germany.
SH2D1A-Related Lymphoproliferative Disease, X-Linked Panel
Italy.
By Medical Genetics Laboratory Bambino Gesù Children's Hospital
This panel specifically test the SH2D1A gene.
More info about this panel Italy.
Immune dysregulation Panel Panel
Germany.
By CeGaT GmbH Immune dysregulation Panel that also includes the following genes: SH2D1A STX11 STXBP2 FAS FASLG TREX1 ITCH CASP10 CASP8 CARD11
More info about this panel Germany.
qChip Panel
Spain.
By Quantitative Genomic Medicine Laboratories, SL qChip that also includes the following genes: RS1 RUNX2 SALL1 SCN1A BMPR1A SH2D1A SEM1 SHH SHOX SIM1
More info about this panel Spain.
Invitae Monogenic Autoimmunity Panel Panel
United States.
By Invitae Invitae Monogenic Autoimmunity Panel that also includes the following genes: RMRP SH2D1A SLC7A7 BTK STAT1 STAT3 STAT5B STIM1 STX11 STXBP2
More info about this panel United States.
Invitae Monogenic Inflammatory Bowel Disease Panel Panel
United States.
By Invitae Invitae Monogenic Inflammatory Bowel Disease Panel that also includes the following genes: SH2D1A BTK STAT1 STAT3 STIM1 STXBP2 CD40LG WAS ZAP70 AICDA
More info about this panel United States.
Invitae Primary Immunodeficiency Panel Panel
United States.
By Invitae Invitae Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC SEMA3E SH2D1A SH3BP2 SLC7A7 SMARCAL1 BTK STAT1 STAT2
More info about this panel United States.
Invitae Hereditary Hemophagocytic Lymphohistiocytosis (HLH) Disorders Panel Panel
United States.
By Invitae Invitae Hereditary Hemophagocytic Lymphohistiocytosis (HLH) Disorders Panel that also includes the following genes: SH2D1A SLC7A7 BTK STX11 STXBP2 CD27 WAS ADA LYST UNC13D
More info about this panel United States.
Hemophagocytic lymphohistiocytosis, familial Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Hemophagocytic lymphohistiocytosis, familial that also includes the following genes: SH2D1A STX11 STXBP2 UNC13D PRF1 RAB27A
More info about this panel Spain.
Early Onset Inflammatory Bowel Disease: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Early Onset Inflammatory Bowel Disease: Sequencing Panel that also includes the following genes: SH2D1A BTK STXBP2 CD40LG WAS AICDA HPS4 LRBA DCLRE1C HPS6
More info about this panel United States.
Early Onset Inflammatory Bowel Disease: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Early Onset Inflammatory Bowel Disease: Deletion/Duplication Panel that also includes the following genes: SH2D1A BTK STXBP2 CD40LG WAS AICDA HPS4 LRBA DCLRE1C HPS6
More info about this panel United States.
Hemophagocytic Lymphohistiocytosis: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hemophagocytic Lymphohistiocytosis: Sequencing Panel that also includes the following genes: SH2D1A SLC7A7 STX11 STXBP2 CD27 NLRC4 LYST UNC13D MAGT1 GATA2
More info about this panel United States.
SH2D1A Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SH2D1A gene.
More info about this panel United States.
X-chromosome High Resolution microarray analysis Panel
United States.
By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center X-chromosome High Resolution microarray analysis that also includes the following genes: RP2 RPGR RPL10 RPS6KA3 RS1 SAT1 SH2D1A SHOX SLC16A2 SLC35A2
More info about this panel United States.
Primary Immunodeficiency Panel Panel
Finland.
By Blueprint Genetics Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC CFB BLM SH2D1A SLC7A7 SMARCAL1 SMARCD2 SRP72 BTK
More info about this panel Finland.
Severe Combined Immunodeficiency Panel Panel
Finland.
By Blueprint Genetics Severe Combined Immunodeficiency Panel that also includes the following genes: RMRP BLM SH2D1A SMARCAL1 STAT1 STAT2 STAT3 STAT5B STIM1 STK4
More info about this panel Finland.
Hemophagocytic Lymphohistiocytosis Panel Panel
Finland.
By Blueprint Genetics Hemophagocytic Lymphohistiocytosis Panel that also includes the following genes: SH2D1A STX11 STXBP2 FAS FASLG LYST UNC13D MAGT1 FADD XIAP
More info about this panel Finland.
Comprehensive Hematology Panel Panel
Finland.
By Blueprint Genetics Comprehensive Hematology Panel that also includes the following genes: RHAG RIT1 RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26
More info about this panel Finland.
Bone Marrow Failure Syndrome Panel Panel
Finland.
By Blueprint Genetics Bone Marrow Failure Syndrome Panel that also includes the following genes: RIT1 RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS29
More info about this panel Finland.
X-linked lymphoproliferative disease type 1 Panel
Spain.
By Bioarray
This panel specifically test the SH2D1A gene.
More info about this panel Spain.
Rapid microarray (CGH and SNP) Panel
United States.
By Allele Diagnostics Allele Diagnostics Rapid microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A
More info about this panel United States.
High-Resolution Rapid Microarray (CGH and SNP) Panel
United States.
By Allele Diagnostics Allele Diagnostics High-Resolution Rapid Microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A
More info about this panel United States.
LYMPHOPROLIFERATIVE SYNDROME, X-LINKED (DUNCAN DISEASE) Panel
Spain.
By Laboratorio de Genetica Clinica SL LYMPHOPROLIFERATIVE SYNDROME, X-LINKED (DUNCAN DISEASE) that also includes the following genes: SH2D1A XIAP
More info about this panel Spain.
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME NGS PANEL that also includes the following genes: SH2D1A STAT3 FAS FASLG CASP10 CASP8 CTLA4 MAGT1 FADD XIAP
More info about this panel Spain.
X-Linked Lymphoproliferative Syndrome Type 1 , Sequencing SH2D1A Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the SH2D1A gene.
More info about this panel Spain.
Lymphoproliferative Syndrome , Deletions-Duplications (MLPA) SH2D1A,XIAP, ITK Genes Panel
Spain.
By Reference Laboratory Genetics Lymphoproliferative Syndrome , Deletions-Duplications (MLPA) SH2D1A,XIAP, ITK Genes that also includes the following genes: SH2D1A XIAP ITK
More info about this panel Spain.
Common Variable Immune Deficiency and Related Disorders, Panel Massive Sequencing (NGS) 41 Genes Panel
Spain.
By Reference Laboratory Genetics Common Variable Immune Deficiency and Related Disorders, Panel Massive Sequencing (NGS) 41 Genes that also includes the following genes: CXCL12 SH2D1A BTK STAT1 STAT3 TGFB1 TNFRSF4 CD40 CD40LG AICDA
More info about this panel Spain.
Familial Hemophagocytic Lymphohistiocytosis , Panel Massive Sequencing (NGS) 16 Genes Panel
Spain.
By Reference Laboratory Genetics Familial Hemophagocytic Lymphohistiocytosis , Panel Massive Sequencing (NGS) 16 Genes that also includes the following genes: SH2D1A SLC7A7 STX11 STXBP2 CD27 LYST UNC13D MAGT1 AP3B1 XIAP
More info about this panel Spain.
Inflammatory Bowel Disease (IBD) and Related Disorders , Panel Massive Sequencing (NGS) 46 Genes Panel
Spain.
By Reference Laboratory Genetics Inflammatory Bowel Disease (IBD) and Related Disorders , Panel Massive Sequencing (NGS) 46 Genes that also includes the following genes: SH2D1A STXBP2 TERC TERT TGFB1 TINF2 CD40LG WAS WIPF1 CARD9
More info about this panel Spain.
Agammaglobulinemies, Panel Massive Sequencing (NGS) 9 Genes Panel
Spain.
By Reference Laboratory Genetics Agammaglobulinemies, Panel Massive Sequencing (NGS) 9 Genes that also includes the following genes: SH2D1A BTK BLNK CD79A CD79B LRRC8A IGHM IGLL1 PIK3R1
More info about this panel Spain.
Tempus xO assay Panel
United States.
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
More info about this panel United States.
Lymphoproliferative Disease, X-Linked (Duncan Disease): gene sequencing panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Lymphoproliferative Disease, X-Linked (Duncan Disease): gene sequencing panel that also includes the following genes: SH2D1A XIAP
More info about this panel Canada.
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