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Congenital dyserythropoietic anemia, type II(CDAN2)

MedGen UID:
266296
•Concept ID:
C1306589
•
Disease or Syndrome
Synonyms: CDA 2; CDAN2; Dyserythropoietic anemia, congenital type 2; HEMPAS anemia; Hereditary Erythroblastic Multinuclearity with Positive Acidified-Serum test'
SNOMED CT: Congenital dyserythropoietic anemia, type II (68870007); Hereditary erythroblast multinuclearity with positive acid serum test (68870007); HEMPAS - hereditary erythroblast multinuclearity with positive acid serum test (68870007)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Gene (location): SEC23B (20p11.23)
 
Monarch Initiative: MONDO:0009134
OMIM®: 224100
Orphanet: ORPHA98873

Definition

Congenital dyserythropoietic anemia type II (CDA II) is the most common form of CDA (see this term) characterized by anemia, jaundice and splenomegaly and often leading to liver iron overload and gallstones. [from ORDO]

Clinical features

From HPO
Cholelithiasis
MedGen UID:
3039
•Concept ID:
C0008350
•
Disease or Syndrome
Hard, pebble-like deposits that form within the gallbladder.
See: Feature record | Search on this feature
Jaundice
MedGen UID:
43987
•Concept ID:
C0022346
•
Sign or Symptom
Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.
See: Feature record | Search on this feature
Reticulocytosis
MedGen UID:
60089
•Concept ID:
C0206160
•
Finding
An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation.
See: Feature record | Search on this feature
Anemia of inadequate production
MedGen UID:
95937
•Concept ID:
C0392708
•
Pathologic Function
A kind of anemia characterized by inadequate production of erythrocytes.
See: Feature record | Search on this feature
Splenomegaly
MedGen UID:
52469
•Concept ID:
C0038002
•
Finding
Abnormal increased size of the spleen.
See: Feature record | Search on this feature
Reduced level of N-acetylglucosaminyltransferase II
MedGen UID:
867361
•Concept ID:
C4021725
•
Finding
An abnormality of glycoprotein metabolism related to a decreased level of alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity.
See: Feature record | Search on this feature
Endopolyploidy on chromosome studies of bone marrow
MedGen UID:
871151
•Concept ID:
C4025624
•
Finding
An increase in the number of chromosome sets per cell in bone marrow cells.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Molecular basis of congenital dyserythropoietic anemia type II and genotype-phenotype relationship.
Cazzola M, Invernizzi R
Haematologica 2010 May;95(5):693-5. doi: 10.3324/haematol.2009.021683. PMID: 20442439Free PMC Article
Molecular analysis of 42 patients with congenital dyserythropoietic anemia type II: new mutations in the SEC23B gene and a search for a genotype-phenotype relationship.
Iolascon A, Russo R, Esposito MR, Asci R, Piscopo C, Perrotta S, Fénéant-Thibault M, Garçon L, Delaunay J
Haematologica 2010 May;95(5):708-15. Epub 2009 Dec 16 doi: 10.3324/haematol.2009.014985. PMID: 20015893Free PMC Article
Successful treatment of iron overload with phlebotomies in two siblings with congenital dyserythropoietic anemia--type II (CDA-II).
Chrobák L
Acta Medica (Hradec Kralove) 2006;49(3):193-5. PMID: 17117609

Recent clinical studies

Etiology

New Cases and Mutations in SEC23B Gene Causing Congenital Dyserythropoietic Anemia Type II.
Musri MM, Venturi V, Ferrer-Cortès X, Romero-Cortadellas L, Hernández G, Leoz P, Ricard Andrés MP, Morado M, Fernández Valle MDC, Beneitez Pastor D, Ortuño Cabrero A, Moreno Gamiz M, Senent Peris L, Perez-Valencia AI, Pérez-Montero S, Tornador C, Sánchez M
Int J Mol Sci 2023 Jun 9;24(12) doi: 10.3390/ijms24129935. PMID: 37373084Free PMC Article
Congenital dyserythropoietic anemia type II: epidemiology, clinical appearance, and prognosis based on long-term observation.
Heimpel H, Anselstetter V, Chrobak L, Denecke J, Einsiedler B, Gallmeier K, Griesshammer A, Marquardt T, Janka-Schaub G, Kron M, Kohne E
Blood 2003 Dec 15;102(13):4576-81. Epub 2003 Aug 21 doi: 10.1182/blood-2003-02-0613. PMID: 12933587
Congenital disorders involving defective N-glycosylation of proteins.
Schachter H
Cell Mol Life Sci 2001 Jul;58(8):1085-104. doi: 10.1007/PL00000923. PMID: 11529501
Natural history of congenital dyserythropoietic anemia type II.
Iolascon A, Delaunay J, Wickramasinghe SN, Perrotta S, Gigante M, Camaschella C
Blood 2001 Aug 15;98(4):1258-60. doi: 10.1182/blood.v98.4.1258. PMID: 11493480
Gilbert's syndrome accounts for the phenotypic variability of congenital dyserythropoietic anemia type II (CDA-II).
Perrotta S, del Giudice EM, Carbone R, Servedio V, Schettini F Jr, Nobili B, Iolascon A
J Pediatr 2000 Apr;136(4):556-9. doi: 10.1016/s0022-3476(00)90026-x. PMID: 10753261

Diagnosis

CD44 as a Potential Screening Marker for Preliminary Differentiation Between Congenital Dyserythropoietic Anemia Type II and Hereditary Spherocytosis.
Singleton BK, Ahmed M, Green CA, Heimpel H, Woźniak MJ, Ranjha L, Seeney F, Bomford A, Mehta P, Guest A, Mushens R, King MJ
Cytometry B Clin Cytom 2018 Mar;94(2):312-326. Epub 2016 Nov 23 doi: 10.1002/cyto.b.21488. PMID: 27784127
Congenital dyserythropoietic anemia type II: molecular analysis and expression of the SEC23B gene.
Punzo F, Bertoli-Avella AM, Scianguetta S, Della Ragione F, Casale M, Ronzoni L, Cappellini MD, Forni G, Oostra BA, Perrotta S
Orphanet J Rare Dis 2011 Dec 30;6:89. doi: 10.1186/1750-1172-6-89. PMID: 22208203Free PMC Article
Congenital dyserythropoietic anemia type II (CDAII/HEMPAS): where are we now?
Denecke J, Marquardt T
Biochim Biophys Acta 2009 Sep;1792(9):915-20. Epub 2008 Dec 25 doi: 10.1016/j.bbadis.2008.12.005. PMID: 19150496
Gilbert's syndrome accounts for the phenotypic variability of congenital dyserythropoietic anemia type II (CDA-II).
Perrotta S, del Giudice EM, Carbone R, Servedio V, Schettini F Jr, Nobili B, Iolascon A
J Pediatr 2000 Apr;136(4):556-9. doi: 10.1016/s0022-3476(00)90026-x. PMID: 10753261
Congenital dyserythropoietic anemia type II: molecular basis and clinical aspects.
Iolascon A, D'Agostaro G, Perrotta S, Izzo P, Tavano R, Miraglia del Giudice B
Haematologica 1996 Nov-Dec;81(6):543-59. PMID: 9009444

Therapy

Uridine treatment normalizes the congenital dyserythropoietic anemia type II-like hematological phenotype in a patient with homozygous mutation in the CAD gene.
Russo R, Marra R, Andolfo I, Manna F, De Rosa G, Rosato BE, Radhakrishnan K, Fahey M, Iolascon A
Am J Hematol 2020 Nov;95(11):1423-1426. Epub 2020 Aug 19 doi: 10.1002/ajh.25946. PMID: 32720728
Congenital dyserythropoietic anemia type II: epidemiology, clinical appearance, and prognosis based on long-term observation.
Heimpel H, Anselstetter V, Chrobak L, Denecke J, Einsiedler B, Gallmeier K, Griesshammer A, Marquardt T, Janka-Schaub G, Kron M, Kohne E
Blood 2003 Dec 15;102(13):4576-81. Epub 2003 Aug 21 doi: 10.1182/blood-2003-02-0613. PMID: 12933587

Prognosis

Compound heterozygosity for two novel mutations of the SEC23B gene in congenital dyserythropoietic anemia type II.
Chen S, Guo Z, Ye Y, Yang S, Huang G
Int J Hematol 2021 Sep;114(3):390-394. Epub 2021 Apr 29 doi: 10.1007/s12185-021-03155-1. PMID: 33914262
Distal limb anomalies in patients with congenital dyserythropoietic anemia.
Amir AZ, Horev G, Yacobovich J, Bennett M, Tamary H
Am J Med Genet A 2017 Feb;173(2):487-490. Epub 2016 Oct 19 doi: 10.1002/ajmg.a.38012. PMID: 27759939
A case of successful management with splenectomy of intractable ascites due to congenital dyserythropoietic anemia type II-induced cirrhosis.
Vassiliadis T, Garipidou V, Perifanis V, Tziomalos K, Giouleme O, Patsiaoura K, Avramidis M, Nikolaidis N, Vakalopoulou S, Tsitouridis I, Antoniadis A, Semertzidis P, Kioumi A, Premetis E, Eugenidis N
World J Gastroenterol 2006 Feb 7;12(5):818-21. doi: 10.3748/wjg.v12.i5.818. PMID: 16521204Free PMC Article
Ineffective erythropoiesis underlies the clinical heterogeneity of congenital dyserythropoietic anemia type II (CDA II).
Kostaridou S, Polychronopoulou S, Premetis E, Papassotiriou I, Stamoulakatou A, Haidas S
Pediatr Int 2004 Jun;46(3):274-9. doi: 10.1111/j.1442-200x.2004.01892.x. PMID: 15151542
Congenital dyserythropoietic anemia type II: epidemiology, clinical appearance, and prognosis based on long-term observation.
Heimpel H, Anselstetter V, Chrobak L, Denecke J, Einsiedler B, Gallmeier K, Griesshammer A, Marquardt T, Janka-Schaub G, Kron M, Kohne E
Blood 2003 Dec 15;102(13):4576-81. Epub 2003 Aug 21 doi: 10.1182/blood-2003-02-0613. PMID: 12933587

Clinical prediction guides

SEC23B Loss-of-Function Suppresses Hepcidin Expression by Impairing Glycosylation Pathway in Human Hepatic Cells.
Rosato BE, Marra R, D'Onofrio V, Del Giudice F, Della Monica S, Iolascon A, Andolfo I, Russo R
Int J Mol Sci 2022 Jan 24;23(3) doi: 10.3390/ijms23031304. PMID: 35163229Free PMC Article
Characteristic phenotypes associated with congenital dyserythropoietic anemia (type II) manifest at different stages of erythropoiesis.
Satchwell TJ, Pellegrin S, Bianchi P, Hawley BR, Gampel A, Mordue KE, Budnik A, Fermo E, Barcellini W, Stephens DJ, van den Akker E, Toye AM
Haematologica 2013 Nov;98(11):1788-96. Epub 2013 Aug 9 doi: 10.3324/haematol.2013.085522. PMID: 23935019Free PMC Article
Congenital dyserythropoietic anemia type II (CDAII/HEMPAS): where are we now?
Denecke J, Marquardt T
Biochim Biophys Acta 2009 Sep;1792(9):915-20. Epub 2008 Dec 25 doi: 10.1016/j.bbadis.2008.12.005. PMID: 19150496
Congenital dyserythropoietic anemia type II: epidemiology, clinical appearance, and prognosis based on long-term observation.
Heimpel H, Anselstetter V, Chrobak L, Denecke J, Einsiedler B, Gallmeier K, Griesshammer A, Marquardt T, Janka-Schaub G, Kron M, Kohne E
Blood 2003 Dec 15;102(13):4576-81. Epub 2003 Aug 21 doi: 10.1182/blood-2003-02-0613. PMID: 12933587
A case of congenital dyserythropoietic anemia type II associated with hemochromatosis.
Tamura H, Matsumoto G, Itakura Y, Terai H, Ikebuchi K, Mitarai T, Isoda K
Intern Med 1992 Mar;31(3):380-4. doi: 10.2169/internalmedicine.31.380. PMID: 1611191

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