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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).
 
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]
Authors:
Hannah Tamary  |  Orly Dgany   view full author information

Professional guidelines

PubMed

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

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
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
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
Marwaha RK, Bansal D, Trehan A, Garewal G
Pediatr Hematol Oncol 2005 Mar;22(2):133-8. doi: 10.1080/08880010590907221. PMID: 15804998
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

Diagnosis

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
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
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
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
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

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
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
Goede JS, Benz R, Fehr J, Schwarz K, Heimpel H
Ann Hematol 2006 Sep;85(9):591-5. Epub 2006 Jun 10 doi: 10.1007/s00277-006-0143-z. PMID: 16767397
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
Marwaha RK, Bansal D, Trehan A, Garewal G
Pediatr Hematol Oncol 2005 Mar;22(2):133-8. doi: 10.1080/08880010590907221. PMID: 15804998

Prognosis

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
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
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
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
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

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
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
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
Marwaha RK, Bansal D, Trehan A, Garewal G
Pediatr Hematol Oncol 2005 Mar;22(2):133-8. doi: 10.1080/08880010590907221. PMID: 15804998
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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