CDAN1 gene related symptoms and diseases

All the information presented here about the CDAN1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to CDAN1 gene

Symptoms // Phenotype % Cases
Short stature Very Common - Between 80% and 100% cases
Anemia of inadequate production Very Common - Between 80% and 100% cases
Anemia Very Common - Between 80% and 100% cases
Erythroid hyperplasia Very Common - Between 80% and 100% cases
Splenomegaly Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with CDAN1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Syndactyly
  • Jaundice
  • Hepatosplenomegaly
  • Small nail
  • Poikilocytosis
  • Macrocytic anemia
  • Reticulocytosis
  • Anisocytosis

And 23 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to CDAN1 gene

Here you will find a list of rare diseases related to the CDAN1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE I


Alternate names

CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE I Is also known as cda type i, cda, type ib, cda type 1, congenital dyserythropoietic anemia type 1, cda i

Description

Congenital dyserythropoietic anemiatype I (CDA I) is a hematologic disorder of erythropoiesis characterized by moderate to severe macrocytic anemia occasionally associated with limb or nail deformities and scoliosis.

Most common symptoms of CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE I

  • Short stature
  • Ptosis
  • Anemia
  • Hepatomegaly
  • Abnormality of the skeletal system


More info about CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE I

SOURCES: OMIM ORPHANET

ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IA; CDAN1A


Alternate names

ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IA; CDAN1A Is also known as dyserythropoietic anemia, congenital, type ia, cda ia, anemia, congenital dyserythropoietic, type i

Description

CDA type I is a rare inherited red blood cell disorder characterized by macrocytic anemia, ineffective erythropoiesis, and secondary hemochromatosis. It is occasionally associated with bone abnormalities, especially of the hands and feet (acrodysostosis), nail hypoplasia, and scoliosis (Tamary et al., 2005). Striking morphologic abnormalities of erythroblasts, reviewed by Wickramasinghe and Wood (2005), include the 'Swiss-cheese' abnormality of erythroblasts on electron microscopy.Four types of CDA, all of which show show ineffective erythropoiesis and multinuclear erythroblasts, have been characterized by clinical and hematopoietic findings. The classification of the first 3 types is based on that described by Wendt and Heimpel (1967). Type I is characterized by megaloblastic changes. The more common type II (OMIM ) is characterized by normocytic binuclear or multinuclear red cells, which on electron microscopy contain double cytoplasmic membranes. Type III (OMIM ), which shows autosomal dominant inheritance, has prominent erythroblastic multinuclearity forming 'gigantoblasts' with up to 12 nuclei. Type IV (OMIM ) is the designation given to a form of CDA with characteristics different from those of types I, II, and III (Wickramasinghe et al., 1991; Arnaud et al., 2010). Genetic Heterogeneity of Congenital Dyserythropoietic AnemiaCDAN1B (OMIM ) is caused by mutation in the C15ORF41 gene (OMIM ) on chromosome 15q14; CDAN2 (OMIM ) is caused by mutation in the SEC23B gene (OMIM ) on chromosome 20p11; CDAN3 (OMIM ) maps to chromosome 15q21; and CDAN4 (OMIM ) is caused by mutation in the KLF1 gene (OMIM ) on chromosome 19p13.For a possible additional form of CDA type I, see {603529}.

Most common symptoms of ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IA; CDAN1A

  • Short stature
  • Scoliosis
  • Growth delay
  • Anemia
  • Hypertension


More info about ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IA; CDAN1A

SOURCES: OMIM


Potential gene panels for CDAN1 gene

Non-immune Hydrops Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Non-immune Hydrops Panel that also includes the following genes: RIT1 RPL11 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24 RPS26 SEC23B

More info about this panel

Hemolytic Anemia Panel by next-generation sequencing (NGS) Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Hemolytic Anemia Panel by next-generation sequencing (NGS) that also includes the following genes: RHAG SEC23B SLC2A1 SPTA1 SPTB TPI1 XK ATP11C ABCG5 ABCG8

More info about this panel

Congenital Dyserythropoietic Anemia Panel by next-generation sequencing (NGS) Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Congenital Dyserythropoietic Anemia Panel by next-generation sequencing (NGS) that also includes the following genes: SEC23B LPIN2 CDAN1 C15orf41 ALAS2 GATA1 KLF1 KIF23

More info about this panel

CDAN1 Sequencing Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center

This panel specifically test the CDAN1 gene.

More info about this panel

CDAN1 Deletion/duplication analysis Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center

This panel specifically test the CDAN1 gene.

More info about this panel

Congenital Dyserythropoietic Anemia Deletion/Duplication Panel Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Congenital Dyserythropoietic Anemia Deletion/Duplication Panel that also includes the following genes: SEC23B LPIN2 CDAN1 C15orf41 GATA1 KLF1 KIF23

More info about this panel

Hemolytic Anemia Deletion/Duplication Panel Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Hemolytic Anemia Deletion/Duplication Panel that also includes the following genes: RHAG SEC23B SLC2A1 SPTA1 SPTB TPI1 XK ABCG5 ABCG8 LPIN2

More info about this panel

Hyperferritinemia Panel Panel

Argentina.

By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" Hyperferritinemia Panel that also includes the following genes: SEC23B SLC40A1 TF TFR2 HAMP CDAN1 CP STEAP3 SLC25A38 ALAS2

More info about this panel

CDAN1. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the CDAN1 gene.

More info about this panel

Congenital Dyserythropoietic Anemia Type I (sequence analysis of CDAN1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the CDAN1 gene.

More info about this panel

Congenital Dyserythropoietic Anemia Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Congenital Dyserythropoietic Anemia Sequencing Panel with CNV Detection that also includes the following genes: SEC23B CDAN1 C15orf41 GATA1 KLF1

More info about this panel

Congenital Dyserythropoietic Anemia Type I via CDAN1 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the CDAN1 gene.

More info about this panel

Anemia, dyserythropoietic congenital type I Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the CDAN1 gene.

More info about this panel

CentoICU platinum plus Panel

Germany.

By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC

More info about this panel

New Born testing (CentoICU) Panel

Germany.

By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC

More info about this panel

Erythrocytes, Anemia Panel Panel

Germany.

By CeGaT GmbH Erythrocytes, Anemia Panel that also includes the following genes: RPL11 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24 RPS26 RPS7 SEC23B

More info about this panel

NGS Panel for Congenital Dyserythropoietic Anemia Panel

Spain.

By BLOODGENETICS BLOODGENETICS NGS Panel for Congenital Dyserythropoietic Anemia that also includes the following genes: SEC23B CDAN1 C15orf41 GATA1 KLF1 KIF23

More info about this panel

Congenital Dyserythropoietic Anemia Panel

United States.

By Blood Cell Disease Reference Laboratory Yale University School of Medicine Congenital Dyserythropoietic Anemia that also includes the following genes: SEC23B CDAN1 KLF1

More info about this panel

Dyserythropoietic anemia, congenital Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Dyserythropoietic anemia, congenital that also includes the following genes: SEC23B CDAN1 C15orf41 KLF1

More info about this panel

Hereditary Hemolytic Anemia Comprehensive Sequencing, Varies Panel

United States.

By Mayo Clinic Genetic Testing Laboratories Mayo Clinic Hereditary Hemolytic Anemia Comprehensive Sequencing, Varies that also includes the following genes: RHAG RPS19 SEC23B SLC2A1 SPTA1 SPTB TPI1 UGT1A1 XK CD59

More info about this panel

CDAN1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CDAN1 gene.

More info about this panel

Comprehensive Hematology Panel Panel

Finland.

By Blueprint Genetics Comprehensive Hematology Panel that also includes the following genes: RHAG RIT1 RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26

More info about this panel

Anemia Panel Panel

Finland.

By Blueprint Genetics Anemia Panel that also includes the following genes: RHAG RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS29

More info about this panel

Congenital dyserythropoietic anemia type 1 Panel

Spain.

By Bioarray

This panel specifically test the CDAN1 gene.

More info about this panel

CONGENITAL DYSERYTHROPOIETIC ANEMIA, TYPE 1 Panel

Spain.

By Laboratorio de Genetica Clinica SL CONGENITAL DYSERYTHROPOIETIC ANEMIA, TYPE 1 that also includes the following genes: CDAN1 C15orf41

More info about this panel

CONGENITAL DYSERYTHROPOIETIC ANEMIA, NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL CONGENITAL DYSERYTHROPOIETIC ANEMIA, NGS PANEL that also includes the following genes: SEC23B CDAN1 C15orf41 GATA1 KLF1 KIF23

More info about this panel

Anemia dyserythropoietic type 1A Panel

Canada.

By LifeLabs Genetics

This panel specifically test the CDAN1 gene.

More info about this panel

Congenital Dyserythropoietic Anemia Type I, Sequencing CDAN1 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the CDAN1 gene.

More info about this panel

Congenital Dyserythropoietic Anemia , Panel Massive Sequencing (NGS) 4 Genes Panel

Spain.

By Reference Laboratory Genetics Congenital Dyserythropoietic Anemia , Panel Massive Sequencing (NGS) 4 Genes that also includes the following genes: SEC23B CDAN1 GATA1 KLF1

More info about this panel


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