CDAN3
MCID: ANM037
MIFTS: 30

Anemia, Congenital Dyserythropoietic, Type Iii (CDAN3)

Categories: Blood diseases, Bone diseases, Fetal diseases, Genetic diseases, Immune diseases, Liver 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 58
Cda Iii 58 54 60
Dyserythropoietic Anemia, Congenital, Type Iii 58 13
Congenital Dyserythropoietic Anemia, Type Iii 30 74
Dyserythropoietic Anemia, Congenital Type 3 77 54
Congenital Dyserythropoietic Anemia Type 3 54 60
Congenital Dyserythropoietic Anemia Type Iii 60
Anemia with Multinucleated Erythroblasts 58
Erythroreticulosis, Hereditary Benign 58
Cda Type Iii 60
Cda Type 3 60
Cdan3 58

Characteristics:

Orphanet epidemiological data:

60
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:

58
Inheritance:
autosomal dominant
also two recessive forms


HPO:

33
anemia, congenital dyserythropoietic, type iii:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Anemia, Congenital Dyserythropoietic, Type Iii

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 98870Disease definitionCongenital 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.EpidemiologyThe 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 descriptionThe 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.EtiologyRecently, 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 methodsDiagnosis 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 diagnosisThe 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 diagnosisPrenatal diagnosis for at-risk pregnancies requires prior identification of the disease-causing mutations in the family.Genetic counselingGenetic 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 treatmentIn 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.PrognosisIn 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.Visit the Orphanet disease page for more resources.

MalaCards based summary : Anemia, Congenital Dyserythropoietic, Type Iii, also known as cda iii, is related to cone-rod dystrophy and hearing loss 2 and congenital dyserythropoietic anemia. An important gene associated with Anemia, Congenital Dyserythropoietic, Type Iii is KIF23 (Kinesin Family Member 23). Affiliated tissues include bone, bone marrow and eye, and related phenotypes are anemia and poikilocytosis

OMIM : 58 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)

Wikipedia : 77 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:

# Related Disease Score Top Affiliating Genes
1 cone-rod dystrophy and hearing loss 2 11.1
2 congenital dyserythropoietic anemia 10.2
3 antiphospholipid syndrome 10.1
4 angioid streaks 10.0

Symptoms & Phenotypes for Anemia, Congenital Dyserythropoietic, Type Iii

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

60 33 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 anemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001903
2 poikilocytosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0004447
3 anisocytosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0011273
4 fatigue 60 33 frequent (33%) Frequent (79-30%) HP:0012378
5 increased mean corpuscular volume 60 33 frequent (33%) Frequent (79-30%) HP:0005518
6 hyperbilirubinemia 60 33 frequent (33%) Frequent (79-30%) HP:0002904
7 increased serum iron 60 33 frequent (33%) Frequent (79-30%) HP:0003452
8 abnormal cellular phenotype 60 33 frequent (33%) Frequent (79-30%) HP:0025354
9 increased total iron binding capacity 60 33 frequent (33%) Frequent (79-30%) HP:0025196
10 abnormal proerythroblast morphology 60 33 frequent (33%) Frequent (79-30%) HP:0025035
11 pallor 60 33 occasional (7.5%) Occasional (29-5%) HP:0000980
12 elevated hepatic transaminase 60 33 occasional (7.5%) Occasional (29-5%) HP:0002910
13 headache 60 33 occasional (7.5%) Occasional (29-5%) HP:0002315
14 gingival bleeding 60 33 occasional (7.5%) Occasional (29-5%) HP:0000225
15 post-partum hemorrhage 60 33 occasional (7.5%) Occasional (29-5%) HP:0011891
16 oral cavity bleeding 60 33 occasional (7.5%) Occasional (29-5%) HP:0030140
17 melena 60 33 occasional (7.5%) Occasional (29-5%) HP:0002249
18 short stature 60 33 very rare (1%) Very rare (<4-1%) HP:0004322
19 jaundice 33 HP:0000952
20 macrocytic anemia 33 HP:0001972
21 abnormality of erythrocytes 60 Occasional (29-5%)
22 congenital hypoplastic anemia 33 HP:0004810
23 abnormality of cells of the erythroid lineage 60 Frequent (79-30%)
24 hemosiderinuria 33 HP:0012543

Symptoms via clinical synopsis from OMIM:

58
Skin:
jaundice

Misc:
increased frequency of myeloma or monoclonal gammopathy

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

Clinical features from OMIM:

105600

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 30

Anatomical Context for Anemia, Congenital Dyserythropoietic, Type Iii

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

42
Bone, Bone Marrow, Eye, Liver

Publications for Anemia, Congenital Dyserythropoietic, Type Iii

Articles related to Anemia, Congenital Dyserythropoietic, Type Iii:

# Title Authors Year
1
Congenital dyserythropoietic anemia type III (CDA III) is caused by a mutation in kinesin family member, KIF23. ( 23570799 )
2013
2
Angioid streaks are part of a familial syndrome of dyserythropoietic anaemia (CDA III). ( 9326176 )
1997

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

GO Terms for Anemia, Congenital Dyserythropoietic, Type Iii

Sources for Anemia, Congenital Dyserythropoietic, Type Iii

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72 TGDB
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75 UMLS via Orphanet
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