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ADA2

adenosine deaminase 2

HCNC Approved Symbol
ADA2 (HGNC:1839)
Genomic Coordinates
22:17,178,790 - 17,221,848 (22q11.1)
Synonyms
ADGF, IDGFL, CECR1
Disease Associations
This gene is associated with the following 2 diseases in OMIM.
View More Disease Info
Disease NameOMIM IDInheritance
Sneddon syndrome
182410AR
Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome
615688AR

Diagnosed Cases

11Patients

In total, 11 patients were diagnosed with a variant in the ADA2 gene.

Frequently observed phenotypes

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

Vasculitis
 4 (36.4%)
Hematuria
 2 (18.2%)
Intracranial hemorrhage
 2 (18.2%)
Livedo reticularis
 2 (18.2%)
Hepatosplenomegaly
 2 (18.2%)