ADA2 gene related symptoms and diseases
All the information presented here about the ADA2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to ADA2 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Vasculitis | Very Common - Between 80% and 100% cases |
| Headache | Very Common - Between 80% and 100% cases |
| Stroke | Very Common - Between 80% and 100% cases |
| Pain | Very Common - Between 80% and 100% cases |
| Myalgia | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with ADA2 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Hemiparesis
- Papule
- Confusion
- Lymphadenopathy
- Vertigo
- Migraine
- Lupus anticoagulant
- Memory impairment
And 157 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to ADA2 gene
Here you will find a list of rare diseases related to the ADA2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
BEHÇET DISEASE
Alternate names
BEHÇET DISEASE Is also known as bd, behcet disease
Description
Behçet's disease (BD) is a chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations.
Most common symptoms of BEHÇET DISEASE
- Seizures
- Ataxia
- Neoplasm
- Pain
- Cataract
More info about BEHÇET DISEASE
SNEDDON SYNDROME
Alternate names
SNEDDON SYNDROME Is also known as livedo reticularis-cerebrovascular accident syndrome, livedo racemosa-cerebrovascular accident syndrome, livedo reticularis and cerebrovascular accidents, ehrmann-sneddon syndrome
Description
Sneddon's syndrome (SS) is a rare non-inflammatory thrombotic vasculopathy characterized by the combination of cerebrovascular disease with livedo racemosa.
Most common symptoms of SNEDDON SYNDROME
- Seizures
- Muscle weakness
- Pain
- Visual impairment
- Motor delay
More info about SNEDDON SYNDROME
VASCULITIS DUE TO ADA2 DEFICIENCY
Alternate names
VASCULITIS DUE TO ADA2 DEFICIENCY Is also known as ada2 deficiency, vasculitis due to dada2
Description
Vasculitis due to ADA2 deficiency is a rare, genetic, systemic and rheumatologic disease due to adenosine deaminase-2 inactivating mutations, combining variable features of autoinflammation, vasculitis, and a mild immunodeficiency. Variable clinical presentation includes chronic or recurrent systemic inflammation with fever, livedo reticularis or racemosa, early-onset ischemic or hemorrhagic strokes, peripheral neuropathy, abdominal pain, hepatosplenomegaly, portal hypertension, cutaneous polyarteritis nodosa, variable cytopenia and immunoglobulin deficiency.
Most common symptoms of VASCULITIS DUE TO ADA2 DEFICIENCY
- Ataxia
- Pain
- Anemia
- Hypertension
- Peripheral neuropathy
More info about VASCULITIS DUE TO ADA2 DEFICIENCY
Search interest in ADA2
Potential gene panels for ADA2 gene
CECR1 Gene 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 ADA2 gene.
More info about this panel United States.
Ataxia Exome Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2
More info about this panel United States.
CECR1 Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the ADA2 gene.
More info about this panel Germany.
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.
Polyarteritis nodosa (sequence analysis of CECR1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the ADA2 gene.
More info about this panel Portugal.
CECR1 Panel
Germany.
By MGZ Medical Genetics Center
This panel specifically test the ADA2 gene.
More info about this panel Germany.
Vascular and connective tissue diseases - panels Panel
Germany.
By MGZ Medical Genetics Center Vascular and connective tissue diseases - panels that also includes the following genes: AIMP1 BMPR1B BMPR2 SKI TGFB2 TGFB3 TGFBR1 TGFBR2 TNXB TREX1
More info about this panel Germany.
Brain Malformations / Neuronal Migration Disorders Panel
Germany.
By MGZ Medical Genetics Center Brain Malformations / Neuronal Migration Disorders that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A SGCE SGSH STIL SLC16A2
More info about this panel Germany.
Teenager Stroke / Stroke-Like Episodes Panel
Germany.
By MGZ Medical Genetics Center Teenager Stroke / Stroke-Like Episodes that also includes the following genes: TGFB2 TGFBR1 TGFBR2 TREX1 TTR SLC2A10 CACNA1C CBS ADA2 COL3A1
More info about this panel Germany.
Polyarteritis nodosa, childhood-onset Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the ADA2 gene.
More info about this panel Germany.
Deficiency of ADA2 Panel
United States.
By Inflammatory Disease Section/Clinical Genetics Service National Human Genome Research Institute
This panel specifically test the ADA2 gene.
More info about this panel United States.
Invitae Periodic Fever Syndromes Panel Panel
United States.
By Invitae Invitae Periodic Fever Syndromes Panel that also includes the following genes: TNFRSF1A LPIN2 NLRP3 NLRC4 TRNT1 ADA2 NLRP12 ELANE MEFV MVK
More info about this panel United States.
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 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 Autoinflammatory Syndromes Panel Panel
United States.
By Invitae Invitae Autoinflammatory Syndromes Panel that also includes the following genes: SH3BP2 TNFRSF1A LPIN2 IL36RN RBCK1 NLRP3 NLRC4 CARD14 TRNT1 ADA2
More info about this panel United States.
CECR1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ADA2 gene.
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.
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