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GENATLAS PHENOTYPE

last update : 03-07-2009

Symbol	DBA3
Location	10q22.3
Name	Diamond-Blackfan anemia 3
Corresponding gene	RPS24
Main clinical features	congenital erythroid aplasia that usually presents in infancy in 30 to 40% of patients other congenital anomalies, particularly of the upper limb and craniofacial regions, including snub noses, thick upper lips, and widely separated eyes
Genetic determination	autosomal dominant
Prevalence	in approximately 1.4p100 of DBA patients
Function/system disorder	hematology
Type	disease

Remark(s)

ribosomal disease with abnormal ribosomal biogenesis and, possibly, function impaired translation may be the main cause of DBA pathogenesis primary fibroblasts from DBA patients with truncating mutations in RPS24 have a marked reduction in proliferative capacity (Badhai 2009)