Genetic Glyco-Diseases Ontology (GGDonto)
Concept UI CON00373 (Tree)
Name SEC23B-CDG
Aliases Congenital dyserythropoietic anaemia, type II
CDA II
Hereditary Erythroblastic Multinuclearity with Positive Acidified-Serum Test (HEMPAS)
Disease name:　Preferred Term ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II
Disease name:　Preferred Term ABBR CDAN2
Disease name:　Synonyms (from OMIM and MeSH) Anemia, Dyserythropoietic, Congenital Type 2
CDA II
Congenital Dyserythropoietic Anemia Type 2
Congenital Dyserythropoietic Anemia Type II
DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE II
DYSERYTHROPOIETIC ANEMIA, HEMPAS TYPE
Dyserythropoietic Anemia, Congenital Type 2
HEMPAS
HEMPAS Anemia
HEREDITARY ERYTHROBLASTIC MULTINUCLEARITY WITH POSITIVE ACIDIFIED-SERUM TEST
UMLS CUI C1306589
UMLS SAB MeSH
UMLS CODE D000742
OMIM DATA:　Gene SEC23B
OMIM DATA:　Gene Number 610512
OMIM DATA:　Phenotype Number 224100
Symptoms, signs and abnormal clinical and laboratory findings
  • Anemia
  • Hematologic Diseases
  • Hyperbilirubinemia
  • Lymphatic Diseases
  • Signs and Symptoms
  • Splenic Diseases
  • Jaundice
  • Biliary Tract Diseases
  • Cholelithiasis
  • Reticulocytosis
  • Anemia, Hemolytic, Congenital
  • Anemia, Dyserythropoietic, Congenital
References
  • Freeze HH, Schachter H (2009) Genetic Disorders of Glycosylation. pp 585-600. Table 42.1 Genetic defects of glycan synthesis in humans.
  • Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317.
  • Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462.
  • Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. Table 1 Proposed nomenclature for CDG.
  • Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016.
  • Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Table 2 Human diseases caused by genetic defects in N-glycosylation pathways.
  • Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826.
  • Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Table 1 Diseases of glycosylation.
  • Jaeken J, Hennet T, Freeze HH, Matthijs G (2008) On the nomenclature of congenital disorders of glycosylation. J Inherit Metab Dis 31(6):669-672.
  • Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Eklund EA, Bode L, Freeze HH (2007) Diseases Associated with Carbohydrates/Glycoconjugates. vol.4 pp 339-372.
  • Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583.
  • Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551.
GDGDB (ID)
Link to the Glyco-Disease Genes Database		 99