Cerebral vascular malformations
Gene: ADA2
AR multisystem disorder with early onset in childhood.
There is a high variability in phenotype in affected individuals with most patients having features of vasculitis affecting blood vessels in the brain due to recurrent strokes. Amber rating due to the phenotype - CVMs secondary to stroke. Many patients have been reported with biallelic variants in ADA2 found to have abnormal cerebral findings on MRI due to a reported haemorrhagic stroke.Created: 18 Nov 2024, 11:09 p.m. | Last Modified: 18 Nov 2024, 11:09 p.m.
Panel Version: 0.39
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
vasculitis due to ADA2 deficiency MONDO:0014306
Publications
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
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: LiteratureCreated: 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
gene: ADA2 was added gene: ADA2 was added to Cerebral vascular malformations. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: ADA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADA2 were set to 3471198, 25528372 Phenotypes for gene: ADA2 were set to Sneddon syndrome 182410; Polyarteritis nodosa