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GENATLAS PHENOTYPE

last update : 08-01-2019

Symbol	DBAL1
Location	22q11.1
Name	Diamond-Blackfan anemia like 1
Other name(s)	adenosine deaminase type 2 deficiency
Corresponding gene	CECR1
Other symbol(s)	DADA2
Main clinical features	severe normocytic or microcytic anemia and bone marrow erythroid hypoplasia in infancy without any additional physical abnormalities, also associated with vasculitis early onset vasculopathy with livedoid skin rash associated with systemic manifestations, and neurologic symptoms also lymphoproliferation, cytopenia, and variable degrees of immunodeficiency
Genetic determination	autosomal recessive
Related entries	also including polyarteritis nodosa vasculopathy with highly varied clinical expression (PMID: 24552285)
Function/system disorder	hematology
	dermatology
	neurology
Type	disease

Remark(s)

. bi-allelic mutations in CECR1 result in deficiency of ADA2 is associated with DBAL1 (PMID: 30503522)) in the absence of ADA2, macrophage differentiation is skewed to a pro-inflammatory M1 subset, which is detrimental for endothelial integrity (PMID: 30565235))