ADA gene related symptoms and diseases
All the information presented here about the ADA gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to ADA gene
Symptoms // Phenotype | % Cases |
---|---|
Failure to thrive | Very Common - Between 80% and 100% cases |
Autoimmunity | Very Common - Between 80% and 100% cases |
Severe B lymphocytopenia | Very Common - Between 80% and 100% cases |
B lymphocytopenia | Very Common - Between 80% and 100% cases |
Cellular immunodeficiency | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with ADA gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Recurrent viral infections
- Severe combined immunodeficiency
- Combined immunodeficiency
- Eosinophilia
- Recurrent bacterial infections
- Chronic diarrhea
- Inflammatory abnormality of the skin
- Sepsis
And 84 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to ADA gene
Here you will find a list of rare diseases related to the ADA. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
OMENN SYNDROME
Alternate names
OMENN SYNDROME Is also known as combined immunodeficiency with hypereosinophilia, reticuloendotheliosis, familial, with eosinophilia, severe combined immunodeficiency with hypereosinophilia
Description
Omenn syndrome (OS) is an inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID; see this term).
Most common symptoms of OMENN SYNDROME
- Failure to thrive
- Anemia
- Hepatomegaly
- Fever
- Edema
More info about OMENN SYNDROME
SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADENOSINE DEAMINASE DEFICIENCY
Alternate names
SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADENOSINE DEAMINASE DEFICIENCY Is also known as ada deficiency, ada-scid, scid due to adenosine deaminase deficiency, scid due to ada deficiency, scid due to ada deficiency, early-onset
Description
Severe combined immunodeficiency (SCID) due to adenosine deaminase (ADA) deficiency is a form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections.
Most common symptoms of SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADENOSINE DEAMINASE DEFICIENCY
- Global developmental delay
- Failure to thrive
- Hypertension
- Hepatomegaly
- Abnormality of the skeletal system
More info about SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADENOSINE DEAMINASE DEFICIENCY
Search interest in ADA
Potential gene panels for ADA gene
ADA Familial Mutation/Variant Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the ADA gene.
More info about this panelADA Prenatal Sequence Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the ADA gene.
More info about this panelADA Sequence Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the ADA gene.
More info about this panelGeneAware Complete Panel Version 2 (Female) Panel
By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Female) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5
More info about this panelGeneAware Complete Panel Version 2 (Male) Panel
By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Male) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5
More info about this panelSevere Combined Immunodeficiency (SCID Including Omenn Syndrome ): Eight-gene Profile (IL2RG, JAK3, RAG1, RAG2, IL7R, ADA, CD3D, CD3E) (Full Gene Sequencing) Panel
By Molecular Diagnostic Laboratory University of Alberta Severe Combined Immunodeficiency (SCID Including Omenn Syndrome ): Eight-gene Profile (IL2RG, JAK3, RAG1, RAG2, IL7R, ADA, CD3D, CD3E) (Full Gene Sequencing) that also includes the following genes: CD3D CD3E ADA IL2RG IL7R JAK3 RAG1 RAG2
More info about this panelSevere Combined Immunodeficiency (SCID Including Omenn Syndrome ): Three-gene Profile (IL2RG, ADA, IL7R) (Full Gene Sequencing) Panel
By Molecular Diagnostic Laboratory University of Alberta Severe Combined Immunodeficiency (SCID Including Omenn Syndrome ): Three-gene Profile (IL2RG, ADA, IL7R) (Full Gene Sequencing) that also includes the following genes: ADA IL2RG IL7R
More info about this panelSevere Combined Immunodeficiency (SCID Including Omenn Syndrome): Nine-gene Profile (IL2RG), JAK3, RAG1, RAG2, IL7R, ADA, CD3D, CD3E, DCLREC1C [Artemis]) (Full Gene Sequencing) Panel
By Molecular Diagnostic Laboratory University of Alberta Severe Combined Immunodeficiency (SCID Including Omenn Syndrome): Nine-gene Profile (IL2RG), JAK3, RAG1, RAG2, IL7R, ADA, CD3D, CD3E, DCLREC1C [Artemis]) (Full Gene Sequencing) that also includes the following genes: CD3D CD3E DCLRE1C ADA IL2RG IL7R JAK3 RAG1 RAG2
More info about this panelSevere Combined Immunodeficiency (SCID): ADA (Full Gene Sequencing) Panel
By Molecular Diagnostic Laboratory University of Alberta
This panel specifically test the ADA gene.
More info about this panelSevere Combined Immunodeficiency (SCID): ADA (Known Mutation) Panel
By Molecular Diagnostic Laboratory University of Alberta
This panel specifically test the ADA gene.
More info about this panelSevere Combined Immunodeficiency and T Cell Disorders Panel by next-generation sequencing (NGS) Panel
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Severe Combined Immunodeficiency and T Cell Disorders Panel by next-generation sequencing (NGS) that also includes the following genes: RMRP STAT5B STIM1 TBX1 FOXN1 ZAP70 CD3D CD3E DCLRE1C ADA
More info about this panelADA Sequencing Panel
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the ADA gene.
More info about this panelSevere Combined Immunodeficiency and T Cell Disorders Deletion/Duplication Panel Panel
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Severe Combined Immunodeficiency and T Cell Disorders Deletion/Duplication Panel that also includes the following genes: RMRP STAT5B STIM1 TBX1 FOXN1 ZAP70 CD3D CD3E ADA NHEJ1
More info about this panelADA Deletion/duplication analysis Panel
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the ADA gene.
More info about this panelTier 2: Hereditary Lymphoma and Immunodeficiency Panel Panel
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 panelHereditary Hemolytic Anemia Panel, Sequencing Panel
By ARUP Laboratories, Molecular Genetics and Genomics Hereditary Hemolytic Anemia Panel, Sequencing that also includes the following genes: SLCO1B1 SLCO1B3 SPTA1 SPTB TPI1 UGT1A1 UGT1A6 UGT1A7 NT5C3A ADA
More info about this panelPrimary Antibody Deficiency Panel, Sequencing and Deletion/Duplication Panel
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 panelADA Gene Sequencing Panel
By GeneDx
This panel specifically test the ADA gene.
More info about this panelADA. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the ADA gene.
More info about this panelSevere combined immunodeficiency Seq + Del/Dup Panel Panel
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Severe combined immunodeficiency Seq + Del/Dup Panel that also includes the following genes: TBX1 WAS FOXN1 DCLRE1C ADA DOCK8 CHD7 NHEJ1 IKBKG IL2RG
More info about this panelSevere combined immunodeficency Seq Analysis Panel
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Severe combined immunodeficency Seq Analysis that also includes the following genes: TBX1 WAS FOXN1 DCLRE1C ADA DOCK8 CHD7 NHEJ1 IKBKG IL2RG
More info about this panelSevere combined immunodeficiency Del/dup Panel Panel
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Severe combined immunodeficiency Del/dup Panel that also includes the following genes: TBX1 WAS FOXN1 DCLRE1C ADA DOCK8 CHD7 NHEJ1 IKBKG IL2RG
More info about this panelSevere combined immunodeficiency due to ADA deficiency (sequence analysis of ADA gene) Panel
By CGC Genetics
This panel specifically test the ADA gene.
More info about this panelFamilial Hemophagocytic Lymphohistiocytosis (FHL) Sequencing Panel with CNV Detection Panel
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 panelAdenosine Deaminase Deficiency via ADA Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the ADA gene.
More info about this panelSevere combined immunodeficiency (SCID) panel Panel
By Genome Diagnostics Laboratory University Medical Center Utrecht Severe combined immunodeficiency (SCID) panel that also includes the following genes: STAT5B STIM1 TBX1 CD40 CD40LG ZAP70 CD3D CD3E CD3G CD8A
More info about this panelComprehensive SCID panel Panel
By Centogene AG - the Rare Disease Company Comprehensive SCID panel that also includes the following genes: RMRP STAT5B STIM1 TBX1 FOXN1 ZAP70 CD3D CD3E CD247 DCLRE1C
More info about this panelSevere combined immunodeficiency due to ADA deficiency Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the ADA gene.
More info about this panelCentoICU platinum plus Panel
By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panelNew Born testing (CentoICU) Panel
By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panelB-negative SCID panel Panel
By Centogene AG - the Rare Disease Company B-negative SCID panel that also includes the following genes: DCLRE1C ADA NHEJ1 AK2 LIG4 RAC2 RAG1 RAG2
More info about this panelCombined immunodeficiencies Panel Panel
By CeGaT GmbH Combined immunodeficiencies Panel that also includes the following genes: RMRP SEMA3E STAT5B STIM1 STK4 TAPBP TBX1 THBD TNFRSF4 CD40
More info about this panelNGS Panel for Hereditary hemolytic anemia including membranopathies (spherocytosis, elliptocytosis, xerocytosis, stomatocytosis, pyropoikylocytosis) and enzymopathies Panel
By BLOODGENETICS BLOODGENETICS NGS Panel for Hereditary hemolytic anemia including membranopathies (spherocytosis, elliptocytosis, xerocytosis, stomatocytosis, pyropoikylocytosis) and enzymopathies that also includes the following genes: RHAG BPGM SLC2A1 SPTA1 SPTB TPI1 UGT1A1 XK ABCG5 ABCG8
More info about this panelqCarrier Plus Panel
By Quantitative Genomic Medicine Laboratories, SL qCarrier Plus that also includes the following genes: RMRP RP2 RPE65 RPGR RPS6KA3 RS1 SACS SGCA SGCB SGSH
More info about this panelInvitae Comprehensive Severe Combined Immunodeficiency (SCID) Panel Panel
By Invitae Invitae Comprehensive Severe Combined Immunodeficiency (SCID) Panel that also includes the following genes: ZAP70 CD3D CD3E CD247 DCLRE1C ADA CORO1A NHEJ1 AK2 IL2RG
More info about this panelInvitae T-B-NK- Severe Combined Immunodeficiency (SCID) Panel Panel
By Invitae Invitae T-B-NK- Severe Combined Immunodeficiency (SCID) Panel that also includes the following genes: ADA AK2
More info about this panelInvitae Comprehensive Severe Combined Immunodeficiency (SCID) and Combined Immunodeficiency (CID) Panel Panel
By Invitae Invitae Comprehensive Severe Combined Immunodeficiency (SCID) and Combined Immunodeficiency (CID) Panel that also includes the following genes: STK4 TAPBP TNFRSF4 CD27 CD40LG ZAP70 CARD11 CD3D CD3E CD3G
More info about this panelInvitae Purine Metabolism Disorders Panel Panel
By Invitae Invitae Purine Metabolism Disorders Panel that also includes the following genes: XDH GPHN MOCOS ADA ADSL AMPD1 HPRT1 MOCS1 PNP
More info about this panelInvitae Monogenic Inflammatory Bowel Disease Panel Panel
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 panelInvitae Primary Immunodeficiency Panel Panel
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 panelInvitae Hereditary Hemophagocytic Lymphohistiocytosis (HLH) Disorders Panel Panel
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 panelSevere Combined Immunodeficiency (SCID) B-: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Severe Combined Immunodeficiency (SCID) B-: Sequencing Panel that also includes the following genes: ZAP70 DCLRE1C ADA NHEJ1 LIG4 PNP PTPRC RAC2 RAG1 RAG2
More info about this panelSevere Combined Immunodeficiency (SCID) B+/B-: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Severe Combined Immunodeficiency (SCID) B+/B-: Sequencing Panel that also includes the following genes: STAT5B STIM1 TBX1 FOXN1 ZAP70 CD3D CD3E CD247 DCLRE1C ADA
More info about this panelAdenosine Deaminase Deficiency (ADA) Panel
By Integrated Genetics Westborough Integrated Genetics
This panel specifically test the ADA gene.
More info about this panelInheritest NGS, Comprehensive Panel
By Integrated Genetics Westborough Integrated Genetics Inheritest NGS, Comprehensive that also includes the following genes: RMRP BCS1L SACS BLM SGSH SLC12A6 SLC17A5 SLC22A5 SLC26A2 SLC35A3
More info about this panelADA Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ADA gene.
More info about this panelPrimary Immunodeficiency Panel Panel
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 panelSevere Combined Immunodeficiency Panel Panel
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 panelComprehensive Metabolism Panel Panel
By Blueprint Genetics Comprehensive Metabolism Panel that also includes the following genes: BCS1L CNNM2 RYR1 CNNM4 SCN4A SEC23B SGSH SI SLC40A1 SLC12A3
More info about this panelPurine and Pyrimidine Metabolism Disorders Panel Panel
By Blueprint Genetics Purine and Pyrimidine Metabolism Disorders Panel that also includes the following genes: TPMT UMOD UMPS XDH GPHN UPB1 NT5C3A MOCOS ADA DHODH
More info about this panelSevere combined immunodeficiency due to adenosine deaminase deficiency Panel
By Bioarray
This panel specifically test the ADA gene.
More info about this panelBaby Genes Targeted Panel Panel
By Baby Genes Inc. Baby Genes Inc. Baby Genes Targeted Panel that also includes the following genes: BLM SLC22A5 SLC25A13 SLC5A5 SMPD1 BTD TAT TAZ TCN2 TG
More info about this panelSevere Combined Immunodeficiency NGS and Deletion/Duplication Panel Panel
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Severe Combined Immunodeficiency NGS and Deletion/Duplication Panel that also includes the following genes: CD3D CD3E DCLRE1C ADA IL2RG IL7R JAK3 RAG1 RAG2
More info about this panelADA Gene Sequencing and Deletion/Duplication Analysis Panel
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
This panel specifically test the ADA gene.
More info about this panelSEVERE COMBINED IMMUNODEFICIENCY (SCID) - ADENOSINE DEAMINASE DEFICIENCY (T- B- NK-) Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the ADA gene.
More info about this panelSEVERE COMBINED IMMUNODEFICIENCY (SCID): NGS PANEL Panel
By Laboratorio de Genetica Clinica SL SEVERE COMBINED IMMUNODEFICIENCY (SCID): NGS PANEL that also includes the following genes: STAT1 STIM1 FOXN1 ZAP70 CARD11 CD3D CD3E CD247 DCLRE1C ADA
More info about this panelSevere Combined Immune Deficiency due to Adenosine Deaminase Deficiency, Sequencing ADA Gene Panel
By Reference Laboratory Genetics
This panel specifically test the ADA gene.
More info about this panelSevere Combined Immune Deficiency (SCID) , Panel Massive Sequencing (NGS) 18 Genes Panel
By Reference Laboratory Genetics Severe Combined Immune Deficiency (SCID) , Panel Massive Sequencing (NGS) 18 Genes that also includes the following genes: STAT5B STIM1 FOXN1 ZAP70 CD3D CD3E DCLRE1C ADA NHEJ1 ORAI1
More info about this panelCEN4GEN rapid supplemental newborn genetic screen: Full gene sequencing panel Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN rapid supplemental newborn genetic screen: Full gene sequencing panel that also includes the following genes: BLM SLC22A5 SLC25A13 SLC5A5 SMPD1 BTD TAT TAZ TCN2 DUOX2
More info about this panelCEN4GEN rapid pan-ethnic carrier screen: Full gene sequencing panel Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN rapid pan-ethnic carrier screen: Full gene sequencing panel that also includes the following genes: BLM SLC22A5 SLC25A13 SLC5A5 SMPD1 BTD TAT TAZ TCN2 TG
More info about this panelSevere combined immunodeficiency (SCID) due to adenosine deaminase deficiency (ADAD): Full gene sequencing (Rapid testing) Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the ADA gene.
More info about this panelPartial adenosine deaminase deficiency: Full gene sequencing (Rapid testing) Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the ADA gene.
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