Details of Disease

General Information of Disease (ID: DIS5RDUE)

• Disease Name: Congenital dyserythropoietic anemia type 2
• Synonyms: hempas anemia; Cda 2; hereditary erythroblastic multinuclearity with Positive acidified-serum test; hempas anaemia; anemia, dyserythropoietic, congenital type 2; anemia, congenital dyserythropoietic, type 2; dyserythropoietic Anemia, hempas type; anemia, congenital dyserythropoietic, type II; CDAN2; dyserythropoietic Anemia, congenital, type 2; congenital dyserythropoietic anemia type 2; dyserythropoietic anemia, congenital, type II; CDA II; CDA type II; CDA type 2; hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas); SEC23B-CDG
• Definition: Congenital dyserythropoietic anemia type II (CDA II) is the most common form of CDA characterized by anemia, jaundice and splenomegaly and often leading to liver iron overload and gallstones.
• Disease Hierarchy:
  DIS6FAT6: Congenital dyserythropoietic anemia
  DISO85MT: Disorder of multiple glycosylation
  DISTW0J6: Congenital anemia
  DIS5RDUE: Congenital dyserythropoietic anemia type 2
• Disease Identifiers:
  MONDO ID: MONDO_0009134
  MESH ID: D000742
  UMLS CUI: C1306589
  OMIM ID: 224100
  MedGen ID: 266296
  Orphanet ID: 98873
  SNOMED CT ID: 68870007

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
AICDA	TTKRTP6	Limited	Biomarker	[1]
MAN2A1	TT34DCN	Strong	Biomarker	[2]
MGAT2	TTJOW1I	Strong	Genetic Variation	[3]

This Disease Is Related to 5 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ERFE	OTSES1HA	Strong	Altered Expression	[4]
LMAN1	OTYHKDEO	Strong	Genetic Variation	[5]
MCFD2	OTM0XU0U	Strong	Genetic Variation	[5]
SEC23A	OTBRNIJ3	Strong	Biomarker	[6]
SEC23B	OT2NFSIQ	Definitive	Autosomal recessive	[7]

References

• [1] Congenital dyserythropoietic anemia type II: exclusion of seven candidate genes.Blood Cells Mol Dis. 2003 Jan-Feb;30(1):22-9. doi: 10.1016/s1079-9796(03)00009-3.
• [2] Alpha-mannosidase-II deficiency results in dyserythropoiesis and unveils an alternate pathway in oligosaccharide biosynthesis.Cell. 1997 Jul 11;90(1):157-67. doi: 10.1016/s0092-8674(00)80322-0.
• [3] Congenital dyserythropoietic anemia type II: molecular basis and clinical aspects.Haematologica. 1996 Nov-Dec;81(6):543-59.
• [4] The BMP-SMAD pathway mediates the impaired hepatic iron metabolism associated with the ERFE-A260S variant.Am J Hematol. 2019 Nov;94(11):1227-1235. doi: 10.1002/ajh.25613. Epub 2019 Aug 30.
• [5] The COPII pathway and hematologic disease.Blood. 2012 Jul 5;120(1):31-8. doi: 10.1182/blood-2012-01-292086. Epub 2012 May 14.
• [6] Functions of the COPII gene paralogs SEC23A and SEC23B are interchangeable in vivo.Proc Natl Acad Sci U S A. 2018 Aug 14;115(33):E7748-E7757. doi: 10.1073/pnas.1805784115. Epub 2018 Jul 31.
• [7] Congenital dyserythropoietic anemia type II (CDAII) is caused by mutations in the SEC23B gene. Hum Mutat. 2009 Sep;30(9):1292-8. doi: 10.1002/humu.21077.