Nucleotide metabolism disorders

Gene: ADA2

Green List (high evidence)

ADA2 (adenosine deaminase 2)
EnsemblGeneIds (GRCh38): ENSG00000093072
EnsemblGeneIds (GRCh37): ENSG00000093072
OMIM: 607575, Gene2Phenotype
ADA2 is in 16 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Vasculitis, autoinflammation, immunodeficiency, and haematologic defects syndrome (VAIHS) is an autosomal recessive multisystem disorder with onset in childhood. The phenotype is highly variable, but most patients have features of a systemic vascular inflammatory disorder with skin ulceration and recurrent strokes affecting the small vessels of the brain resulting in neurologic dysfunction. Other features may include recurrent fever, elevated acute-phase proteins, myalgias, lesions resembling polyarteritis nodosa, and/or livedo racemosa or reticularis with an inflammatory vasculitis on biopsy. Some patients may have renal and/or gastrointestinal involvement, hypertension, aneurysms, or ischemic necrosis of the digits. Some affected individuals have immunodeficiency. At least 10 unrelated families reported, the p.Gly47Arg variant is a common founder variant in the Jewish population.
Created: 15 Jun 2021, 9:53 a.m. | Last Modified: 15 Jun 2021, 9:53 a.m.
Panel Version: 0.8011

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Vasculitis, autoinflammation, immunodeficiency, and haematologic defects syndrome, MIM# 615688

Publications

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Clinical manifestations of deficiency of ADA2 (DADA2) include hypogammaglobulinemia and recurrent infections. At least 10 unrelated cases reported, of which 6 have a CVID diagnosis.
Sources: Literature
Created: 23 Jul 2020, 4:28 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome MIM#615688; common variable immunodeficiency

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • Disorders of purine metabolism
  • Deficiency of adenosine deaminase 2 MONDO:0100317
OMIM
607575
Clinvar variants
Variants in ADA2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 May 2024, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: ADA2 was added gene: ADA2 was added to Nucleotide metabolism disorders. Sources: Expert Review Green Mode of inheritance for gene: ADA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADA2 were set to 24552284; 35095905 Phenotypes for gene: ADA2 were set to Disorders of purine metabolism; Deficiency of adenosine deaminase 2 MONDO:0100317