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Summary
ANEMIA, SIDEROBLASTIC, 1 SIDBA1
300751
OMIM = Online Medalian Inheritance of Men
75563
Xp11.21
rare
X-linked recessive
mutation in the gene encoding delta-aminolevulinate synthase-2
X-linked sideroblastic anemia is the most common non-syndromic genetic form
symptoms
anemia
onset, variable age
laboratory finding
Ferritin increasedserum
Hemoglobine decreasedblood
Literature
Jaeken JMGAT2-CDG (CDG-IIa) and dysmorphismAm J Med Genet A15802974-29752012
Wheeler PGet al.SRD5A3-CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset featuresAm J Med Genet A170123165-31712016
Shaheen R,et al.A novel syndrome of hypohidrosis and intellectual disability is linked to COG6 deficiencyJ Med Genet507431-4362013
Richardson BC,et al.Structural basis for a human glycosylation disorder caused by mutation of the COG4 geneProc Natl Acad Sci U S A1063213329-342009