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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): Gene(s) directly associated with this condition or phenotype.	CDAN1 (15q15.2)
Related gene: Gene(s) associated with related conditions. For conditions in a hierarchy, the parent condition will list the genes associated with the children conditions.	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

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

Phenotypic abnormality
- Abnormality of blood and blood-forming tissues
  - Abnormal erythrocyte morphology
    - Anemia
      - Congenital anemia
        Congenital dyserythropoietic anemia
        Congenital dyserythropoietic anemia, type I
        Anemia, congenital dyserythropoietic, type 1a
        Congenital dyserythropoietic anemia type type 1B

Follow this link to review classifications for Congenital dyserythropoietic anemia, type I in Orphanet.

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

See all (1)

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

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

See all (22)

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: 33401150 Free PMC Article

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

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

See all (24)

Therapy

Congenital dyserythropoietic anemia type I: First report from the Congenital Dyserythropoietic Anemia Registry of North America (CDAR).

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 with bone abnormalities, mutations of the CDAN I gene, and significant responsiveness to alpha-interferon therapy.

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

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

See all (9)

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

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

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: 23716552 Free PMC Article

Congenital dyserythropoietic anemia type I (CDA I): molecular genetics, clinical appearance, and prognosis based on long-term observation.

Neonatal manifestations of congenital dyserythropoietic anemia type I.

Shalev H, Tamary H, Shaft D, Reznitsky P, Zaizov R
J Pediatr 1997 Jul;131(1 Pt 1):95-7. doi: 10.1016/s0022-3476(97)70130-6. PMID: 9255198

See all (10)

Clinical prediction guides

Homozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anemia type I.

Codanin-1, the protein encoded by the gene mutated in congenital dyserythropoietic anemia type I (CDAN1), is cell cycle-regulated.

Noy-Lotan S, Dgany O, Lahmi R, Marcoux N, Krasnov T, Yissachar N, Ginsberg D, Motro B, Resnitzky P, Yaniv I, Kupfer GM, Tamary H
Haematologica 2009 May;94(5):629-37. Epub 2009 Mar 31 doi: 10.3324/haematol.2008.003327. PMID: 19336738 Free PMC Article

Congenital dyserythropoietic anemia type I (CDA I): molecular genetics, clinical appearance, and prognosis based on long-term observation.

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: 12434312 Free PMC Article

See all (13)

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Congenital dyserythropoietic anemia, type I

Disease characteristics

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

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