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Congenital dyserythropoietic anemia, type I

MedGen UID:
82891
•Concept ID:
C0271933
•
Disease or Syndrome
Synonym: Dyserythropoietic anemia, congenital type 1
SNOMED CT: Congenital dyserythropoietic anemia type I (59548005); Congenital dyserythropoietic anemia, type I (59548005)
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): CDAN1 (15q15.2)
Related gene: CDIN1
 
Monarch Initiative: MONDO:0020337
OMIM®: 224120
Orphanet: ORPHA98869

Disease characteristics

Excerpted from the GeneReview: Congenital Dyserythropoietic Anemia Type I
Congenital dyserythropoietic anemia type I (CDA I) is characterized by moderate-to-severe macrocytic anemia presenting occasionally in utero as severe anemia associated with hydrops fetalis but more commonly in neonates as hepatomegaly, early jaundice, and intrauterine growth restriction. Some individuals present in childhood or adulthood. After the neonatal period, most affected individuals have lifelong moderate anemia, usually accompanied by jaundice and splenomegaly. Secondary hemochromatosis develops with age as a result of increased iron absorption even in those who are not transfused. Distal limb anomalies occur in 4%-14% of affected individuals. [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Characteristics  |  Genetically Related (Allelic) Disorders  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  Chapter Notes  |  References
Authors:
Hannah Tamary  |  Orly Dgany   view full author information

Professional guidelines

PubMed

Treatment of transfusion-dependent congenital dyserythropoietic anemia Type I patients with pegylated interferon alpha-2a.
Abu-Quider A, Asleh M, Shalev H, Fruchtman Y, Ben-Harosh M, Beck G, Kapelushnik J
Eur J Haematol 2020 Aug;105(2):216-222. Epub 2020 May 19 doi: 10.1111/ejh.13428. PMID: 32302424

Recent clinical studies

Etiology

Hepatic and cardiac iron load as determined by MRI T2* in patients with congenital dyserythropoietic anemia type I.
Asleh M, Levitas A, Daniel S, Abu-Quider A, Ben-Harosh M, Kapelushnik J
Ann Hematol 2020 Nov;99(11):2507-2512. Epub 2020 Sep 12 doi: 10.1007/s00277-020-04263-4. PMID: 32918595
Morphological features of congenital dyserythropoietic anemia type I: The role of electron microscopy in diagnosis.
Resnitzky P, Shaft D, Shalev H, Kapelushnik J, Dgany O, Krasnov T, Tamary H
Eur J Haematol 2017 Oct;99(4):366-371. Epub 2017 Aug 29 doi: 10.1111/ejh.12931. PMID: 28755517
Morbidity and mortality of adult patients with congenital dyserythropoietic anemia type I.
Shalev H, Al-Athamen K, Levi I, Levitas A, Tamary H
Eur J Haematol 2017 Jan;98(1):13-18. Epub 2016 Jun 15 doi: 10.1111/ejh.12778. PMID: 27206021
Pregnancy outcome in congenital dyserythropoietic anemia type I.
Shalev H, Avraham GP, Hershkovitz R, Levy A, Sheiner E, Levi I, Tamary H
Eur J Haematol 2008 Oct;81(4):317-21. Epub 2008 Jun 28 doi: 10.1111/j.1600-0609.2008.01109.x. PMID: 18573172
Interferon therapy in congenital dyserythropoietic anemia type I/II.
Marwaha RK, Bansal D, Trehan A, Garewal G
Pediatr Hematol Oncol 2005 Mar;22(2):133-8. doi: 10.1080/08880010590907221. PMID: 15804998

Diagnosis

Pyruvate kinase deficiency mimicking congenital dyserythropoietic anemia type I.
Yozgat AK, Erdem AY, Kaçar D, Özbek NY, Yaralı N
Turk J Pediatr 2022;64(5):951-955. doi: 10.24953/turkjped.2021.4704. PMID: 36305449
Congenital dyserythropoietic anemia type I: First report from the Congenital Dyserythropoietic Anemia Registry of North America (CDAR).
Niss O, Lorsbach RB, Berger M, Chonat S, McLemore M, Buchbinder D, McCavit T, Shaffer LG, Simpson J, Schwartz JH, Meznarich J, Emberesh M, Seu KG, Zhang W, Kalfa TA; CDAR consortium
Blood Cells Mol Dis 2021 Mar;87:102534. Epub 2020 Dec 24 doi: 10.1016/j.bcmd.2020.102534. PMID: 33401150Free PMC Article
Treatment of transfusion-dependent congenital dyserythropoietic anemia Type I patients with pegylated interferon alpha-2a.
Abu-Quider A, Asleh M, Shalev H, Fruchtman Y, Ben-Harosh M, Beck G, Kapelushnik J
Eur J Haematol 2020 Aug;105(2):216-222. Epub 2020 May 19 doi: 10.1111/ejh.13428. PMID: 32302424
Morphological features of congenital dyserythropoietic anemia type I: The role of electron microscopy in diagnosis.
Resnitzky P, Shaft D, Shalev H, Kapelushnik J, Dgany O, Krasnov T, Tamary H
Eur J Haematol 2017 Oct;99(4):366-371. Epub 2017 Aug 29 doi: 10.1111/ejh.12931. PMID: 28755517
Morbidity and mortality of adult patients with congenital dyserythropoietic anemia type I.
Shalev H, Al-Athamen K, Levi I, Levitas A, Tamary H
Eur J Haematol 2017 Jan;98(1):13-18. Epub 2016 Jun 15 doi: 10.1111/ejh.12778. PMID: 27206021

Therapy

Congenital dyserythropoietic anemia type I: First report from the Congenital Dyserythropoietic Anemia Registry of North America (CDAR).
Niss O, Lorsbach RB, Berger M, Chonat S, McLemore M, Buchbinder D, McCavit T, Shaffer LG, Simpson J, Schwartz JH, Meznarich J, Emberesh M, Seu KG, Zhang W, Kalfa TA; CDAR consortium
Blood Cells Mol Dis 2021 Mar;87:102534. Epub 2020 Dec 24 doi: 10.1016/j.bcmd.2020.102534. PMID: 33401150Free PMC Article
Treatment of transfusion-dependent congenital dyserythropoietic anemia Type I patients with pegylated interferon alpha-2a.
Abu-Quider A, Asleh M, Shalev H, Fruchtman Y, Ben-Harosh M, Beck G, Kapelushnik J
Eur J Haematol 2020 Aug;105(2):216-222. Epub 2020 May 19 doi: 10.1111/ejh.13428. PMID: 32302424
Proton pump inhibitors use suppresses iron absorption in congenital dyserythropoietic anemia.
Shalev H, Quider AA, Harosh MB, Kapelushnik J
Pediatr Hematol Oncol 2016 Oct-Nov;33(7-8):457-461. doi: 10.1080/08880018.2016.1247392. PMID: 27960647
Congenital dyserythropoietic anemia type I (CDA I): molecular genetics, clinical appearance, and prognosis based on long-term observation.
Heimpel H, Schwarz K, Ebnöther M, Goede JS, Heydrich D, Kamp T, Plaumann L, Rath B, Roessler J, Schildknecht O, Schmid M, Wuillemin W, Einsiedler B, Leichtle R, Tamary H, Kohne E
Blood 2006 Jan 1;107(1):334-40. Epub 2005 Sep 1 doi: 10.1182/blood-2005-01-0421. PMID: 16141353
Interferon therapy in congenital dyserythropoietic anemia type I/II.
Marwaha RK, Bansal D, Trehan A, Garewal G
Pediatr Hematol Oncol 2005 Mar;22(2):133-8. doi: 10.1080/08880010590907221. PMID: 15804998

Prognosis

Hepatic and cardiac iron load as determined by MRI T2* in patients with congenital dyserythropoietic anemia type I.
Asleh M, Levitas A, Daniel S, Abu-Quider A, Ben-Harosh M, Kapelushnik J
Ann Hematol 2020 Nov;99(11):2507-2512. Epub 2020 Sep 12 doi: 10.1007/s00277-020-04263-4. PMID: 32918595
Characterization of the interactions between Codanin-1 and C15Orf41, two proteins implicated in congenital dyserythropoietic anemia type I disease.
Swickley G, Bloch Y, Malka L, Meiri A, Noy-Lotan S, Yanai A, Tamary H, Motro B
BMC Mol Cell Biol 2020 Mar 23;21(1):18. doi: 10.1186/s12860-020-00258-1. PMID: 32293259Free PMC Article
Morbidity and mortality of adult patients with congenital dyserythropoietic anemia type I.
Shalev H, Al-Athamen K, Levi I, Levitas A, Tamary H
Eur J Haematol 2017 Jan;98(1):13-18. Epub 2016 Jun 15 doi: 10.1111/ejh.12778. PMID: 27206021
Congenital dyserythropoietic anemia type I (CDA I): molecular genetics, clinical appearance, and prognosis based on long-term observation.
Heimpel H, Schwarz K, Ebnöther M, Goede JS, Heydrich D, Kamp T, Plaumann L, Rath B, Roessler J, Schildknecht O, Schmid M, Wuillemin W, Einsiedler B, Leichtle R, Tamary H, Kohne E
Blood 2006 Jan 1;107(1):334-40. Epub 2005 Sep 1 doi: 10.1182/blood-2005-01-0421. PMID: 16141353
Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1.
Dgany O, Avidan N, Delaunay J, Krasnov T, Shalmon L, Shalev H, Eidelitz-Markus T, Kapelushnik J, Cattan D, Pariente A, Tulliez M, Crétien A, Schischmanoff PO, Iolascon A, Fibach E, Koren A, Rössler J, Le Merrer M, Yaniv I, Zaizov R, Ben-Asher E, Olender T, Lancet D, Beckmann JS, Tamary H
Am J Hum Genet 2002 Dec;71(6):1467-74. Epub 2002 Nov 14 doi: 10.1086/344781. PMID: 12434312Free PMC Article

Clinical prediction guides

Characterization of the interactions between Codanin-1 and C15Orf41, two proteins implicated in congenital dyserythropoietic anemia type I disease.
Swickley G, Bloch Y, Malka L, Meiri A, Noy-Lotan S, Yanai A, Tamary H, Motro B
BMC Mol Cell Biol 2020 Mar 23;21(1):18. doi: 10.1186/s12860-020-00258-1. PMID: 32293259Free PMC Article
Homozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anemia type I.
Babbs C, Roberts NA, Sanchez-Pulido L, McGowan SJ, Ahmed MR, Brown JM, Sabry MA; WGS500 Consortium, Bentley DR, McVean GA, Donnelly P, Gileadi O, Ponting CP, Higgs DR, Buckle VJ
Haematologica 2013 Sep;98(9):1383-7. Epub 2013 May 28 doi: 10.3324/haematol.2013.089490. PMID: 23716552Free PMC Article
Congenital dyserythropoietic anemia type I (CDA I): molecular genetics, clinical appearance, and prognosis based on long-term observation.
Heimpel H, Schwarz K, Ebnöther M, Goede JS, Heydrich D, Kamp T, Plaumann L, Rath B, Roessler J, Schildknecht O, Schmid M, Wuillemin W, Einsiedler B, Leichtle R, Tamary H, Kohne E
Blood 2006 Jan 1;107(1):334-40. Epub 2005 Sep 1 doi: 10.1182/blood-2005-01-0421. PMID: 16141353
Interferon therapy in congenital dyserythropoietic anemia type I/II.
Marwaha RK, Bansal D, Trehan A, Garewal G
Pediatr Hematol Oncol 2005 Mar;22(2):133-8. doi: 10.1080/08880010590907221. PMID: 15804998
Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1.
Dgany O, Avidan N, Delaunay J, Krasnov T, Shalmon L, Shalev H, Eidelitz-Markus T, Kapelushnik J, Cattan D, Pariente A, Tulliez M, Crétien A, Schischmanoff PO, Iolascon A, Fibach E, Koren A, Rössler J, Le Merrer M, Yaniv I, Zaizov R, Ben-Asher E, Olender T, Lancet D, Beckmann JS, Tamary H
Am J Hum Genet 2002 Dec;71(6):1467-74. Epub 2002 Nov 14 doi: 10.1086/344781. PMID: 12434312Free PMC Article

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