Anemia, Congenital Dyserythropoietic, Type Ii; Cdan2

Description

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.

Clinical Features

Top most frequent phenotypes and symptoms related to Anemia, Congenital Dyserythropoietic, Type Ii; Cdan2

  • Pica
  • Anemia
  • Splenomegaly
  • Jaundice
  • Cirrhosis
  • Leukemia
  • Hyperbilirubinemia
  • Cholelithiasis
  • Mania
  • Gout
And another 10 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Anemia, Congenital Dyserythropoietic, Type Ii; Cdan2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Non-immune Hydrops Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

COL2A1, GNPTAB, GLB1, HADHA, RAF1, SMPD1, RPL35A, HADHB, ALG9, ALG1, CTSA, GUSB, GALNS, GBE1, PMM2, FGFR3, GBA, BRAF, DHCR7, GLA , (...)

View the complete list with 67 more genes
Specificity
2 %
Genes
100 %
Hemolytic Anemia Panel by next-generation sequencing (NGS).

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

ALDOA, ALAS2, GPX1, GPI, AK1, NT5C3A, HK1, PFKM, SLC2A1, G6PD, COL4A1, PIEZO1, KIF23, GATA1, KLF1, PKLR, CDAN1, SEC23B, PGK1, ABCG5 , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
100 %
Congenital Dyserythropoietic Anemia Panel by next-generation sequencing (NGS).

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

ALAS2, KIF23, GATA1, KLF1, CDAN1, SEC23B, C15orf41, LPIN2
Specificity
13 %
Genes
100 %
SEC23B Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

SEC23B
Specificity
100 %
Genes
100 %
SEC23B Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

SEC23B
Specificity
100 %
Genes
100 %
Congenital Dyserythropoietic Anemia Deletion/Duplication Panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

KIF23, GATA1, KLF1, CDAN1, SEC23B, C15orf41, LPIN2
Specificity
15 %
Genes
100 %
Hemolytic Anemia Deletion/Duplication Panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

ALDOA, GPX1, GPI, AK1, NT5C3A, HK1, PFKM, SLC2A1, G6PD, PIEZO1, KIF23, GATA1, KLF1, PKLR, CDAN1, SEC23B, PGK1, ABCG5, ABCG8, SLC4A1 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
Hyperferritinemia Panel.

By Molecular Genetics Laboratory London Health Sciences Centre in Canada.

HFE, ALAS2, SLC25A38, CDAN1, SEC23B, FTL, CP, SLC40A1, TFR2, HAMP, HJV, B2M, FTH1, STEAP3, TF
Specificity
7 %
Genes
100 %
SEC23B. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

SEC23B
Specificity
100 %
Genes
100 %
Anemia dyserythropoietic type 2 (sequence analysis of SEC23B gene).

By CGC Genetics in Portugal.

SEC23B
Specificity
100 %
Genes
100 %
Congenital Dyserythropoietic Anemia Type II via the SEC23B Gene.

By PreventionGenetics PreventionGenetics in United States.

SEC23B
Specificity
100 %
Genes
100 %
Congenital Dyserythropoietic Anemia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

GATA1, KLF1, CDAN1, SEC23B, C15orf41
Specificity
20 %
Genes
100 %
Anemia, dyserythropoietic congenital type II.

By Centogene AG - the Rare Disease Company in Germany.

SEC23B
Specificity
100 %
Genes
100 %
Erythrocytes, Anemia Panel.

By CeGaT GmbH in Germany.

HFE, HBB, AMN, COX4I2, RPL35A, CUBN, GIF, RPS19, HBA1, G6PD, HBA2, KIF23, KLF1, RPS26, RPS10, RPL11, RPL5, RPS17, RPS24, CDAN1 , (...)

View the complete list with 13 more genes
Specificity
4 %
Genes
100 %
NGS Panel for Congenital Dyserythropoietic Anemia.

By BLOODGENETICS BLOODGENETICS in Spain.

KIF23, GATA1, KLF1, CDAN1, SEC23B, C15orf41
Specificity
17 %
Genes
100 %
Congenital Dyserythropoietic Anemia.

By Blood Cell Disease Reference Laboratory Yale University School of Medicine in United States.

KLF1, CDAN1, SEC23B
Specificity
34 %
Genes
100 %
Invitae Congenital Disorders of Glycosylation Panel.

By Invitae in United States.

ATP6V0A2, SRD5A3, DHDDS, DPM3, PGM1, RFT1, COG1, COG8, TUSC3, MPDU1, DPM1, COG7, ALG9, ALG1, ALG8, ALG2, ALG12, SLC35A1, ALG6, MPI , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
100 %
Congenital disorder of multiple glycosylation (CDG).

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

ATP6V0A2, SRD5A3, GNE, DHDDS, DPM3, RFT1, COG1, COG8, TUSC3, MPDU1, DPM1, COG7, ALG9, ALG8, ALG2, ALG12, B4GALT1, SLC35A1, ALG6, MPI , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Dyserythropoietic anemia, congenital.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

KLF1, CDAN1, SEC23B, C15orf41
Specificity
25 %
Genes
100 %
Congenital Dyserythropoietic Anemia Type II: SEC23B Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SEC23B
Specificity
100 %
Genes
100 %
Congenital Disorders of Glycosylation: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

B4GALT7, ATP6V0A2, SRD5A3, GNE, DDOST, DHDDS, DPM3, PGM1, RFT1, COG1, COG8, TUSC3, MPDU1, DPM1, COG7, ALG9, ALG1, ALG8, ALG12, B4GALT1 , (...)

View the complete list with 46 more genes
Specificity
2 %
Genes
100 %
Congenital Disorders of Glycosylation: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

B4GALT7, ATP6V0A2, SRD5A3, GNE, DDOST, DHDDS, DPM3, PGM1, RFT1, COG1, COG8, TUSC3, MPDU1, DPM1, COG7, ALG9, ALG8, ALG12, B4GALT1, SLC35A1 , (...)

View the complete list with 45 more genes
Specificity
2 %
Genes
100 %
Hereditary Hemolytic Anemia Comprehensive Sequencing, Varies.

By Mayo Clinic Genetic Testing Laboratories Mayo Clinic in United States.

ALDOA, HBB, GPI, AK1, NT5C3A, HK1, PFKM, FANCC, RPS19, SLC2A1, G6PD, UGT1A1, PIEZO1, KIF23, GATA1, KLF1, PKLR, CDAN1, SEC23B, PGK1 , (...)

View the complete list with 20 more genes
Specificity
3 %
Genes
100 %
Congenital Disorders of Glycosylation NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

ATP6V0A2, SRD5A3, GNE, DDOST, DHDDS, DPM3, RFT1, COG1, COG8, TUSC3, MPDU1, DPM1, COG7, ALG9, ALG1, ALG8, ALG2, ALG12, B4GALT1, SLC35A1 , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
100 %
SEC23B.

By Fulgent Genetics Fulgent Genetics in United States.

SEC23B
Specificity
100 %
Genes
100 %
Comprehensive Hematology Panel.

By Blueprint Genetics in Finland.

BRCA1, BRCA2, F2, F5, HFE, EPCAM, MSH2, PMS2, MSH6, MLH1, RECQL4, RUNX1, TP53, YARS2, PC, HBB, TYRP1, OCA2, AMN, SLC45A2 , (...)

View the complete list with 219 more genes
Specificity
1 %
Genes
100 %
Congenital Disorders of Glycosylation Panel.

By Blueprint Genetics in Finland.

ATP6V0A2, SRD5A3, GNE, DDOST, DHDDS, DPM3, PGM1, RFT1, COG1, COG8, TUSC3, MPDU1, DPM1, COG7, ALG9, ALG1, ALG8, ALG2, ALG12, B4GALT1 , (...)

View the complete list with 27 more genes
Specificity
3 %
Genes
100 %
Comprehensive Metabolism Panel.

By Blueprint Genetics in Finland.

HFE, MTHFR, MCCC1, MCCC2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2, ARG1, HLCS, BTD, ATP7B , (...)

View the complete list with 414 more genes
Specificity
1 %
Genes
100 %
Anemia Panel.

By Blueprint Genetics in Finland.

BRCA2, HFE, YARS2, PC, HBB, AMN, MTR, CLCN7, ALAS2, GPI, RPL35A, PUS1, PDHA1, ABCB7, TCN2, NT5C3A, CUBN, CYB5R3, SLC25A38, PDHX , (...)

View the complete list with 58 more genes
Specificity
2 %
Genes
100 %
Congenital dyserythropoietic anemia type 2.

By Bioarray in Spain.

SEC23B
Specificity
100 %
Genes
100 %
CONGENITAL DYSERYTHROPOIETIC ANEMIA, TYPE 2.

By Laboratorio de Genetica Clinica SL in Spain.

SEC23B
Specificity
100 %
Genes
100 %
Congenital Dyserytrhopoietic Anemia Type II, Sequencing SEC23B Gene.

By Reference Laboratory Genetics in Spain.

SEC23B
Specificity
100 %
Genes
100 %
Congenital Disorders of Glycosylation, Panel Massive Sequencing (NGS) 30 Genes.

By Reference Laboratory Genetics in Spain.

ATP6V0A2, SRD5A3, GNE, DHDDS, DPM3, RFT1, COG1, COG8, TUSC3, MPDU1, DPM1, COG7, ALG9, ALG8, ALG2, ALG12, B4GALT1, ALG6, MPI, ALG3 , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
100 %
Congenital Dyserythropoietic Anemia , Panel Massive Sequencing (NGS) 4 Genes.

By Reference Laboratory Genetics in Spain.

GATA1, KLF1, CDAN1, SEC23B
Specificity
25 %
Genes
100 %
Tempus xT assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, MTHFR, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ATP7B, FOXL2, HNF1A, WT1, RB1 , (...)

View the complete list with 571 more genes
Specificity
1 %
Genes
100 %

Alternate names

Anemia, Congenital Dyserythropoietic, Type Ii; Cdan2 Is also known as dyserythropoietic anemia, congenital, type ii, cda ii, dyserythropoietic anemia, hempas type, hereditary erythroblastic multinuclearity with positive acidified-serum test;hempas;cda ii; cda type 2; cda type ii; congenital dyserythropoietic anemia type 2; hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas); sec23b-cdg.


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