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Summary
ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE II CDAN2
DYSERYTHROPOIETIC ANEMIA, HEMPAS TYPE
224100
OMIM = Online Medalian Inheritance of Men
98873
20pp11.23

Detail information to gene locus by the National Center for Biotechnology Information NCBI:
rare
autosomal recessive
mutation in the SEC23B gene
symptoms
anemia
cardiomyopathy
cirrhosis or fibrosis of liver
diabetes mellitus
gallstones, cholelithiasis
hemolysis
jaundice
onset, variable age
splenomegaly (large spleen)
laboratory finding
Bilirubin, unconjugated increasedserum
Hemoglobine decreasedblood
Literature
van de Kamp JM,Mancini GM, Salomons GSX-linked creatine transporter deficiency: clinical aspects and pathophysiologyJ Inherit Metab Dis375715-7332014
Clark JF,Cecil KMDiagnostic methods and recommendations for the cerebral creatine deficiency syndromesPediatr Res773398-4052015
Dunbar M,et al.Treatment of X-linked creatine transporter (SLC6A8) deficiency: systematic review of the literature and three new casesMol Genet Metab1124259-2742014