Anemia, Congenital Dyserythropoietic, Type Iii; Cdan3

Description

Congenital dyserythropoietic anemia type III is a rare disorder characterized by nonprogressive mild to moderate hemolytic anemia, macrocytosis in the peripheral blood, and giant multinucleated erythroblasts in the bone marrow (Lind et al., 1995).For a discussion of genetic heterogeneity of congenital dyserythropoietic anemia, see {224120}.

Genes related to Anemia, Congenital Dyserythropoietic, Type Iii; Cdan3

KIF23

Clinical Features

Top most frequent phenotypes and symptoms related to Anemia, Congenital Dyserythropoietic, Type Iii; Cdan3

Short stature
Anemia
Fatigue
Headache
Elevated hepatic transaminase
Jaundice
Pallor
Hyperbilirubinemia
Macrocytic anemia
Gingival bleeding

And another 16 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 Iii; Cdan3 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 Panel GTR000522580 complete gene list COL2A1, GNPTAB, GLB1, HADHA, RAF1, SMPD1, RPL35A, HADHB, ALG9, ALG1, CTSA, GUSB, GALNS, GBE1, PMM2, FGFR3, GBA, BRAF, DHCR7, GLA, HRAS, IDUA, KRAS, LIPA, MAP2K1, NPC1, NRAS, PTPN11, RPS19, SHOC2, SOS1, SOS2, RIT1, MAP2K2, CBL, G6PD, PEX1, SLC17A5, SUMF1, CLCNKB, CHRNA1, CHRND, ASAH1, KMT2D, PIGA, LBR, PEX6, MID1, FOXC2, PIEZO1, LZTR1, KIAA0586, FAT4, KIF23, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10, PEX12, PEX5, KAT6B, WDR35, GATA1, KLF1, RPS26, RPS10, CLCNKA, RPL11, RPL5, RPS17, RPS24, MVK, RASA1, SOX18, FOXP3, PKLR, UROS, NEU1, CHRNG, CANT1, CCBE1, CDAN1, SEC23B, PTH1R 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 Panel GTR000509191 complete gene list ALDOA, ALAS2, GPX1, GPI, AK1, NT5C3A, HK1, PFKM, SLC2A1, G6PD, COL4A1, PIEZO1, KIF23, GATA1, KLF1, PKLR, CDAN1, SEC23B, PGK1, ABCG5, ABCG8, SLC4A1, GYPC, ATP11C, KCNN4, EPB41, SPTB, SPTA1, ANK1, XK, EPB42, RHAG, GCLC, GSR, TPI1, GSS, C15orf41, LPIN2 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 %
KIF23 Sequencing. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. KIF23 Specificity 100 % Genes 100 %
KIF23 Deletion/duplication analysis. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. KIF23 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 Panel GTR000528591 complete gene list ALDOA, GPX1, GPI, AK1, NT5C3A, HK1, PFKM, SLC2A1, G6PD, PIEZO1, KIF23, GATA1, KLF1, PKLR, CDAN1, SEC23B, PGK1, ABCG5, ABCG8, SLC4A1, GYPC, EPB41, SPTB, SPTA1, ANK1, XK, EPB42, RHAG, GCLC, GSR, TPI1, GSS, C15orf41, LPIN2 Specificity 3 % 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 Panel GTR000528900 complete gene list HFE, HBB, AMN, COX4I2, RPL35A, CUBN, GIF, RPS19, HBA1, G6PD, HBA2, KIF23, KLF1, RPS26, RPS10, RPL11, RPL5, RPS17, RPS24, CDAN1, SEC23B, SH2B3, RPS7, SPTB, SPTA1, ANK1, EPB42, C15orf41, LPIN2, HBD, EPOR, EPAS1, EGLN1 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 %
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 Panel GTR000553666 complete gene list ALDOA, HBB, GPI, AK1, NT5C3A, HK1, PFKM, FANCC, RPS19, SLC2A1, G6PD, UGT1A1, PIEZO1, KIF23, GATA1, KLF1, PKLR, CDAN1, SEC23B, PGK1, FANCA, FANCG, SLC4A1, GYPC, EPB41, SPTB, SPTA1, ANK1, XK, EPB42, RHAG, GCLC, GSR, TPI1, GSS, C15orf41, HBD, CD59, HMOX1, STOM Specificity 3 % Genes 100 %
KIF23. By Fulgent Genetics Fulgent Genetics in United States. KIF23 Specificity 100 % Genes 100 %
CONGENITAL DYSERYTHROPOIETIC ANEMIA, TYPE 3. By Laboratorio de Genetica Clinica SL in Spain. KIF23 Specificity 100 % Genes 100 %

Alternate names

Anemia, Congenital Dyserythropoietic, Type Iii; Cdan3 Is also known as dyserythropoietic anemia, congenital, type iii, cda iii, anemia with multinucleated erythroblasts, erythroreticulosis, hereditary benign;cda iii; cda type 3; cda type iii; congenital dyserythropoietic anemia type 3.

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