CDAN3
MCID: ANM037
MIFTS: 37

Anemia, Congenital Dyserythropoietic, Type Iii (CDAN3)

Categories: Blood diseases, Bone diseases, Genetic diseases, Immune diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Anemia, Congenital Dyserythropoietic, Type Iii

MalaCards integrated aliases for Anemia, Congenital Dyserythropoietic, Type Iii:

Name: Anemia, Congenital Dyserythropoietic, Type Iii 57
Cda Iii 57 12 20 58
Congenital Dyserythropoietic Anemia Type Iii 12 58 15
Congenital Dyserythropoietic Anemia Type 3 12 20 58
Dyserythropoietic Anemia, Congenital, Type Iii 57 13
Congenital Dyserythropoietic Anemia, Type Iii 29 70
Dyserythropoietic Anemia, Congenital Type 3 73 20
Anemia with Multinucleated Erythroblasts 57 12
Cda Type Iii 12 58
Cda Type 3 12 58
Cdan3 57 12
Congenital Dyserythropoietic Anaemia Type Iii 12
Congenital Dyserythropoietic Anaemia Type 3 12
Anaemia with Multinucleated Erythroblasts 12
Erythroreticulosis, Hereditary Benign 57
Hereditary Benign Erythroreticulosis 12

Characteristics:

Orphanet epidemiological data:

58
congenital dyserythropoietic anemia type iii
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; Age of death: normal life expectancy;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant
also two recessive forms


HPO:

31
anemia, congenital dyserythropoietic, type iii:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:0111399
OMIM® 57 105600
OMIM Phenotypic Series 57 PS224120
MeSH 44 D000742
SNOMED-CT 67 26409005
ICD10 via Orphanet 33 D64.4
UMLS via Orphanet 71 C0271934
Orphanet 58 ORPHA98870
MedGen 41 C0271934
UMLS 70 C0271934

Summaries for Anemia, Congenital Dyserythropoietic, Type Iii

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 98870 Definition Congenital dyserythropoietic anemia type III (CDA III) is a rare form of CDA (see this term) characterized by dyserythropoiesis, with big multinucleated erythroblasts in the bone marrow, and manifesting with mild to moderate anemia. Epidemiology The prevalence is unknown. Three families have been reported with autosomal dominant CDA III in Sweden, America and Argentina. Other sporadic CDA III-like cases have been described. In total, about 60 cases have been reported worldwide. Clinical description The clinical presentation is variable. CDA III can manifest with mild anemia and jaundice in neonates but it may not be discovered until childhood or adulthood. Intensity of symptoms increases during infections, following trauma, and during pregnancy. It can also be associated with monoclonal gammopathies, multiple myeloma (see this term) and retinal angioid streaks,which can lead to visual impairment. Sporadic cases of CDA III have been associated with severe erythroid hyperplasia, skeletal disorders, intellectual deficit, and hepatosplenomegaly. Etiology Recently, the KIF23 gene (15q23) has been identified as the causal mutation for AD CDA III. This gene encodes mitotic kinesin-like protein 1 (MKLP1) which is crucial for cytokinesis. Diagnostic methods Diagnosis is based on laboratory findings. The disorder is characterized by mild anemia, macrocytosis in the peripheral blood, and giant multinucleated erythroblasts (containing up to 12 nuclei) in the bone marrow. Increased levels of serum thymidine kinase, lactate dehydrogenase and bilirubin and very low or undetectable haptoglobin are also characteristic of this disease. Mutations in the KIF23 gene can also determine a diagnosis of CDA III. Differential diagnosis The diagnosis of CDA III should be considered following exclusion of other causes of macrocytosis (B12 deficiency, folic acid deficiency or other megaloblastic anemias such as pernicious anemia or thiamine-responsive megaloblastic anemia syndrome ; see these terms), acquired dyserythropoiesis (myelodysplastic syndrome, acute erythroid leukemia), hemolytic anemias (hereditary spherocytosis) or microcytic anemias (thalassemias and iron deficiency anemias). Gilbert syndrome (see these terms) and infections should be also excluded. Antenatal diagnosis Prenatal diagnosis for at-risk pregnancies requires prior identification of the disease-causing mutations in the family. Genetic counseling Genetic counseling is possible in CDA III. It is inherited in an autosomal dominant mode. Other sporadic CDA III-like cases have been reported with an autosomal recessive pattern of inheritance, suggesting a different genetic alteration than KIF23 associated CDA III and possibly another subtype of CDA. Management and treatment In most cases anemia is mild and treatment is not necessary. Only during times of extreme anemia (often due to pregnancy or surgery), may a transfusion be needed. Ophthalmological follow-up is recommended in those with eye manifestations. Prognosis In most cases the prognosis is good and there is no decrease in life expectancy. Quality of life may be affected in those with visual impairment.

MalaCards based summary : Anemia, Congenital Dyserythropoietic, Type Iii, also known as cda iii, is related to congenital dyserythropoietic anemia and hydrops fetalis, nonimmune. An important gene associated with Anemia, Congenital Dyserythropoietic, Type Iii is KIF23 (Kinesin Family Member 23), and among its related pathways/superpathways are Protein processing in endoplasmic reticulum and Hematopoietic Stem Cell Differentiation. Affiliated tissues include bone marrow, eye and bone, and related phenotypes are anemia and anisocytosis

Disease Ontology : 12 A congenital dyserythropoietic anemia characterized by nonprogressive mild to moderate anemia, macrocytosis in the peripheral blood, and giant multinucleated erythroblasts that has material basis in heterozygous mutation in an 11 cM interval within chromosome 15q21-q25.

OMIM® : 57 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. (105600) (Updated 20-May-2021)

Wikipedia : 73 Congenital dyserythropoietic anemia type III (CDA III) is a rare autosomal dominant disorder... more...

Related Diseases for Anemia, Congenital Dyserythropoietic, Type Iii

Diseases in the Congenital Dyserythropoietic Anemia family:

Anemia, Congenital Dyserythropoietic, Type Iii Anemia, Congenital Dyserythropoietic, Type Ii
Anemia, Congenital Dyserythropoietic, Type Ia Anemia, Congenital Dyserythropoietic, Type Iv
Anemia, Congenital Dyserythropoietic, Type Ib

Diseases related to Anemia, Congenital Dyserythropoietic, Type Iii via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 26)
# Related Disease Score Top Affiliating Genes
1 congenital dyserythropoietic anemia 30.9 SEC23B KLF1 KIF23 GATA1 CDIN1 CDAN3
2 hydrops fetalis, nonimmune 10.2
3 lymphatic malformation 7 10.2
4 monoclonal gammopathy of uncertain significance 10.2
5 mitral valve insufficiency 10.2
6 antiphospholipid syndrome 10.2
7 hemolytic anemia 10.2
8 acute erythroid leukemia 10.1 KLF1 GATA1
9 thalassemia minor 10.1 KLF1 GATA1
10 thrombocytopenia with beta-thalassemia, x-linked 10.1 KLF1 GATA1
11 cutaneous porphyria 10.1 KLF1 GATA1
12 angioid streaks 10.1
13 spherocytosis, type 2 10.0 KLF1 GATA1
14 spherocytosis, type 4 10.0 KLF1 GATA1
15 spherocytosis, type 3 10.0 KLF1 GATA1
16 macrocytic anemia 9.9
17 hereditary spherocytosis 9.9 SEC23B KLF1 GATA1
18 macular degeneration, age-related, 1 9.9
19 deficiency anemia 9.9
20 acrodysostosis 9.9 CDIN1 CDAN1
21 anemia, congenital dyserythropoietic, type ii 9.8 SEC23B KLF1 KIF23 CDIN1 CDAN1
22 congenital hemolytic anemia 9.7 SEC23B KLF1 GATA1 CDIN1 CDAN1
23 diamond-blackfan anemia 9.7 SEC23B KLF1 GATA1 EIF6
24 anemia, congenital dyserythropoietic, type ib 9.6 SEC23B KLF1 KIF23 GATA1 CDIN1 CDAN1
25 anemia, congenital dyserythropoietic, type iv 9.4 SEC23B MRPL46 KLF1 KIF23 GATA1 CDIN1
26 anemia, congenital dyserythropoietic, type ia 9.4 SEC23B MRPL46 KLF1 KIF23 GATA1 CDIN1

Graphical network of the top 20 diseases related to Anemia, Congenital Dyserythropoietic, Type Iii:



Diseases related to Anemia, Congenital Dyserythropoietic, Type Iii

Symptoms & Phenotypes for Anemia, Congenital Dyserythropoietic, Type Iii

Human phenotypes related to Anemia, Congenital Dyserythropoietic, Type Iii:

58 31 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 anemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001903
2 anisocytosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0011273
3 poikilocytosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0004447
4 fatigue 58 31 frequent (33%) Frequent (79-30%) HP:0012378
5 hyperbilirubinemia 58 31 frequent (33%) Frequent (79-30%) HP:0002904
6 increased serum iron 58 31 frequent (33%) Frequent (79-30%) HP:0003452
7 increased mean corpuscular volume 58 31 frequent (33%) Frequent (79-30%) HP:0005518
8 abnormal cellular phenotype 58 31 frequent (33%) Frequent (79-30%) HP:0025354
9 abnormal proerythroblast morphology 58 31 frequent (33%) Frequent (79-30%) HP:0025035
10 increased total iron binding capacity 58 31 frequent (33%) Frequent (79-30%) HP:0025196
11 elevated hepatic transaminase 58 31 occasional (7.5%) Occasional (29-5%) HP:0002910
12 pallor 58 31 occasional (7.5%) Occasional (29-5%) HP:0000980
13 gingival bleeding 58 31 occasional (7.5%) Occasional (29-5%) HP:0000225
14 headache 58 31 occasional (7.5%) Occasional (29-5%) HP:0002315
15 melena 58 31 occasional (7.5%) Occasional (29-5%) HP:0002249
16 post-partum hemorrhage 58 31 occasional (7.5%) Occasional (29-5%) HP:0011891
17 oral cavity bleeding 58 31 occasional (7.5%) Occasional (29-5%) HP:0030140
18 short stature 58 31 very rare (1%) Very rare (<4-1%) HP:0004322
19 jaundice 31 HP:0000952
20 macrocytic anemia 31 HP:0001972
21 abnormal erythrocyte morphology 58 Occasional (29-5%)
22 congenital hypoplastic anemia 31 HP:0004810
23 abnormality of cells of the erythroid lineage 58 Frequent (79-30%)
24 hemosiderinuria 31 HP:0012543

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skin:
jaundice

Heme:
congenital dyserythropoietic anemia
macrocytosis
giant bone marrow multinuclear erythroblasts

Lab:
hemosiderinuria
grossly disorganized erythroblast nuclei
intraerythroblastic inclusions
highly polyploid giant mononucleate erythroblasts
elevated levels of serum thymidine kinase

Misc:
increased frequency of myeloma or monoclonal gammopathy

Clinical features from OMIM®:

105600 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Anemia, Congenital Dyserythropoietic, Type Iii:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.32 CDAN1 CDIN1 DIAPH3 EIF6 GAS2L3 GATA1

Drugs & Therapeutics for Anemia, Congenital Dyserythropoietic, Type Iii

Search Clinical Trials , NIH Clinical Center for Anemia, Congenital Dyserythropoietic, Type Iii

Genetic Tests for Anemia, Congenital Dyserythropoietic, Type Iii

Genetic tests related to Anemia, Congenital Dyserythropoietic, Type Iii:

# Genetic test Affiliating Genes
1 Congenital Dyserythropoietic Anemia, Type Iii 29

Anatomical Context for Anemia, Congenital Dyserythropoietic, Type Iii

MalaCards organs/tissues related to Anemia, Congenital Dyserythropoietic, Type Iii:

40
Bone Marrow, Eye, Bone, Lung

Publications for Anemia, Congenital Dyserythropoietic, Type Iii

Articles related to Anemia, Congenital Dyserythropoietic, Type Iii:

(show all 26)
# Title Authors PMID Year
1
Localization of the gene for congenital dyserythropoietic anemia type III, CDAN3, to chromosome 15q21-q25. 57 61
7711721 1995
2
Intravascular haemolysis and increased prevalence of myeloma and monoclonal gammopathy in congenital dyserythropoietic anaemia, type III. 57
8299769 1994
3
Observations on two members of the Swedish family with congenital dyserythropoietic anaemia, type III. 57
8500603 1993
4
A new congenital dyserythropoietic anaemia. 57
3345287 1988
5
A new case of congenital dyserythropoietic anaemia, type III: studies of the cell cycle distribution and ultrastructure of erythroblasts and of nucleic acid synthesis in marrow cells. 57
6182166 1982
6
Congenital dyserythropoietic anaemia type III: an electron microscopic study. 57
638061 1978
7
Congenital dyserythropoietic anemia (CDA) with increased red cell lipids. 57
4432872 1974
8
Congenital dyserythropoietic anaemia, type 3. 57
5045964 1972
9
Hereditary benign erythroreticulosis. 57
13867810 1962
10
Massive heteroptopia of bone marrow simulating mediastinal tumour. 57
14458656 1962
11
Familial erythroid multinuclearity. 57
14886400 1951
12
Differential tissue specific expression of Kif23 alternative transcripts in mice with the human mutation causing congenital dyserythropoietic anemia type III. 61
32818800 2020
13
Mutation analysis and copy number alterations of KIF23 in non-small-cell lung cancer exhibiting KIF23 over-expression. 61
29066916 2017
14
Congenital dyserythropoietic anemias: molecular insights and diagnostic approach. 61
23940284 2013
15
Congenital dyserythropoietic anemia type III (CDA III) is caused by a mutation in kinesin family member, KIF23. 61
23570799 2013
16
Congenital dyserythropoietic anemias: epidemiology, clinical significance, and progress in understanding their pathogenesis. 61
15278299 2004
17
Congenital dyserythropoietic anemia type II: exclusion of seven candidate genes. 61
12667984 2003
18
New sporadic case of congenital dyserythropoietic anemia type III in an aged woman: detailed description of ultrastructural findings. 61
11994986 2002
19
Congenital dyserythropoietic anemia type III associated with congenital atrioseptal defect has led to severe cardiac problems in a 32-year-old patient. 61
10911387 2000
20
Congenital dyserythropoietic anemia type III. 61
10897128 2000
21
[Localized gene of the rare "Norrland disease". CDA-III blood disease with dominant heredity]. 61
10024825 1999
22
Localization of the congenital dyserythropoietic anemia II locus to chromosome 20q11.2 by genomewide search. 61
9345103 1997
23
Angioid streaks are part of a familial syndrome of dyserythropoietic anaemia (CDA III). 61
9326176 1997
24
A novel form of congenital dyserythropoietic anemia associated with deficiency of erythroid CD44 and a unique blood group phenotype [In(a-b-), Co(a-b-)]. 61
7507739 1994
25
Long-term cinemicrography of erythroblasts from a patient with congenital dyserythropoietic anemia type III: direct observation of dysplastic erythroblast formation. 61
8312576 1993
26
Congenital dyserythropoietic anemia type III. studies on erythroid differentiation of blood erythroid progenitor cells (BFUE) in vitro. 61
7202587 1980

Variations for Anemia, Congenital Dyserythropoietic, Type Iii

Expression for Anemia, Congenital Dyserythropoietic, Type Iii

Search GEO for disease gene expression data for Anemia, Congenital Dyserythropoietic, Type Iii.

Pathways for Anemia, Congenital Dyserythropoietic, Type Iii

Pathways related to Anemia, Congenital Dyserythropoietic, Type Iii according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.03 SEC23B RPN2 MAN1B1
2 10.64 KLF1 GATA1

GO Terms for Anemia, Congenital Dyserythropoietic, Type Iii

Biological processes related to Anemia, Congenital Dyserythropoietic, Type Iii according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 erythrocyte differentiation GO:0030218 8.8 KLF1 GATA1 CDIN1

Molecular functions related to Anemia, Congenital Dyserythropoietic, Type Iii according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ribosome binding GO:0043022 8.62 EIF6 RPN2

Sources for Anemia, Congenital Dyserythropoietic, Type Iii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
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30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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44 MeSH
45 MESH via Orphanet
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49 NCI
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56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
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68 SNOMED-CT via HPO
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71 UMLS via Orphanet
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