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Summary
ANEMIA, SIDEROBLASTIC, 2, PYRIDOXINE-REFRACTORY SIDBA2
205950
OMIM = Online Medalian Inheritance of Men
260305
3p22.1
rare
autosomal recessive
mutation in the SLC25A38 gene
symptoms
anemia
hepatomegaly (large liver)
onset, infancy
splenomegaly (large spleen)
laboratory finding
Ferritin increasedserum
Literature
Rymen D,et al.Key features and clinical variability of COG6-CDGMol Genet Metab1163163-1702015
Shaheen R,et al.A novel syndrome of hypohidrosis and intellectual disability is linked to COG6 deficiencyJ Med Genet507431-4362013
Haijes H,et al.Expanding the clinical phenotype of COG6 deficiencyJ Med Genet5164252014