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.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

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

SOURCES: OMIM ORPHANET MESH

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

SOURCES: OMIM MESH ORPHANET

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

SOURCES: OMIM ORPHANET


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

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

CECR1 Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the ADA2 gene.

More info about this panel

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

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

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

Polyarteritis nodosa (sequence analysis of CECR1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ADA2 gene.

More info about this panel

CECR1 Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the ADA2 gene.

More info about this panel

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

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

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

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

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

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

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

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

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

CECR1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ADA2 gene.

More info about this panel

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


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like DARS SMCHD1

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more