Anemia, Congenital Dyserythropoietic, Type Ib; Cdan1b

Description

Congenital dyserythropoietic anemia type I is an autosomal recessive hematologic disorder characterized by congenital macrocytic anemia secondary to ineffective erythropoiesis. The bone marrow shows erythroid hyperplasia, with nuclear abnormalities in most erythroblasts. Up to 3% of erythroblasts have interchromatin bridges, and erythroblast nuclei are abnormally electron dense with spongy ('Swiss cheese-like') heterochromatin on electron microscopy. Some reported patients have distal digital abnormalities (summary by Ahmed et al., 2006).For a general phenotypic description and a discussion of genetic heterogeneity of CDA, see CDAN1A (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Anemia, Congenital Dyserythropoietic, Type Ib; Cdan1b

  • Short stature
  • Ptosis
  • Anemia
  • Hepatomegaly
  • Splenomegaly
  • Abnormality of the skeletal system
  • Syndactyly
  • Jaundice
  • Hepatosplenomegaly
  • Pallor
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.


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Anemia, Congenital Dyserythropoietic, Type Ib; Cdan1b Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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 %
C15orf41 Sequencing.

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

C15orf41
Specificity
100 %
Genes
100 %
C15orf41 Deletion/duplication analysis.

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

C15orf41
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 %
Dyserythropoietic anemia, congenital type Ib (sequence analysis of C15orf41 gene).

By CGC Genetics in Portugal.

C15orf41
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 %
Congenital Dyserythropoietic Anemia Type I via the C15ORF41 Gene.

By PreventionGenetics PreventionGenetics in United States.

C15orf41
Specificity
100 %
Genes
100 %
CentoICU platinum plus.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
100 %
CentoICU platinum.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
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 type 1b.

By BLOODGENETICS BLOODGENETICS in Spain.

C15orf41
Specificity
100 %
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 %
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 %
C15orf41.

By Fulgent Genetics Fulgent Genetics in United States.

C15orf41
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 %
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 1.

By Laboratorio de Genetica Clinica SL in Spain.

CDAN1, C15orf41
Specificity
50 %
Genes
100 %

Alternate names

Anemia, Congenital Dyserythropoietic, Type Ib; Cdan1b Is also known as cda, type ib.



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