MCID: ANM043
MIFTS: 35

Anemia, Congenital Dyserythropoietic, Type Ia

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

Aliases & Classifications for Anemia, Congenital Dyserythropoietic, Type Ia

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

Name: Anemia, Congenital Dyserythropoietic, Type Ia 57
Cda I 53 59 75 55
Congenital Dyserythropoietic Anemia, Type I 29 6 73
Congenital Dyserythropoietic Anemia Type I 24 59 75
Anemia, Congenital Dyserythropoietic, Type I 57 13
Dyserythropoietic Anemia, Congenital Type 1 76 53
Congenital Dyserythropoietic Anemia Type 1 53 59
Cdan1a 57 75
Cda Ia 57 75
Anemia, Dyserythropoietic, Congenital, Type Ia 40
Dyserythropoietic Anemia, Congenital, Type Ia 57
Anemia, Dyserythropoietic, Congenital Type 1 53
Congenital Dyserythropoietic Anemia Type Ia 75
Type I Congenital Dyserythropoietic Anemia 53
Anemia, Congenital Dyserythropoietic, 1a 75
Cda Type 1 59
Cda Type I 59

Characteristics:

Orphanet epidemiological data:

59
congenital dyserythropoietic anemia type i
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Europe),<1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: adult;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable age at diagnosis
anemia may show favorable response to alpha-interferon treatment


HPO:

32
anemia, congenital dyserythropoietic, type ia:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 224120
Orphanet 59 ORPHA98869
UMLS via Orphanet 74 C0271933
ICD10 via Orphanet 34 D64.4
MedGen 42 C0271933
MeSH 44 D000742
UMLS 73 C0271933

Summaries for Anemia, Congenital Dyserythropoietic, Type Ia

OMIM : 57 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 (224100) is characterized by normocytic binuclear or multinuclear red cells, which on electron microscopy contain double cytoplasmic membranes. Type III (105600), which shows autosomal dominant inheritance, has prominent erythroblastic multinuclearity forming 'gigantoblasts' with up to 12 nuclei. Type IV (613673) 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). (224120)

MalaCards based summary : Anemia, Congenital Dyserythropoietic, Type Ia, also known as cda i, is related to congenital dyserythropoietic anemia and dyserythropoiesis, congenital, with ultrastructurally normal erythroblast heterochromatin, and has symptoms including icterus An important gene associated with Anemia, Congenital Dyserythropoietic, Type Ia is CDAN1 (Codanin 1). The drugs Iron and Omeprazole have been mentioned in the context of this disorder. Affiliated tissues include bone, heart and bone marrow, and related phenotypes are syndactyly and mild postnatal growth retardation

UniProtKB/Swiss-Prot : 75 Anemia, congenital dyserythropoietic, 1A: An autosomal recessive blood disorder characterized by morphological abnormalities of erythroblasts, ineffective erythropoiesis, macrocytic anemia and secondary hemochromatosis. It is occasionally associated with bone abnormalities, especially of the hands and feet (acrodysostosis), nail hypoplasia, and scoliosis. Ultrastructural features include internuclear chromatin bridges connecting some nearly completely separated erythroblasts and an abnormal appearance (spongy or Swiss-cheese appearance) of the heterochromatin in a high proportion of the erythroblasts.

NIH Rare Diseases : 53 Congenital dyserythropoietic anemia (CDA) type 1 is an inheritedblood disorder characterized by moderate to severe anemia. It is usually diagnosed in childhood or adolescence, although in some cases, the condition can be detected before birth. Many affected individuals have yellowing of the skin and eyes (jaundice) and an enlarged liver and spleen (hepatosplenomegaly). This condition also causes the body to absorb too much iron, which builds up and can damage tissues and organs. In particular, iron overload can lead to an abnormal heart rhythm (arrhythmia), congestive heart failure, diabetes, and chronic liver disease (cirrhosis). Rarely, people with CDA type I are born with skeletal abnormalities, most often involving the fingers and/or toes. CDA type I usually results from mutations in the CDAN1 (about 90% of the cases) and C150RF41 genes (about 1% of the cases).  In about 9% of the cases no cause can be identified. It is inherited in an autosomal recessive pattern. Treatment involves medication such as interferon, and sometimes bone marrow transplant.

Wikipedia : 76 Congenital dyserythropoietic anemia type I (CDA I) is a disorder of blood cell production, particularly... more...

GeneReviews: NBK5313

Related Diseases for Anemia, Congenital Dyserythropoietic, Type Ia

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



Diseases related to Anemia, Congenital Dyserythropoietic, Type Ia

Symptoms & Phenotypes for Anemia, Congenital Dyserythropoietic, Type Ia

Symptoms via clinical synopsis from OMIM:

57
AbdomenSpleen:
splenomegaly

Hematology:
poikilocytosis
anisocytosis
macrocytosis
increased reticulocytes
dyserythropoietic anemia
more
Laboratory Abnormalities:
decreased hemoglobin
increased serum bilirubin

Skin Nails Hair Skin:
jaundice

Skeletal Feet:
syndactyly (in some patients)


Clinical features from OMIM:

224120

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

32 (show all 12)
# Description HPO Frequency HPO Source Accession
1 syndactyly 32 occasional (7.5%) HP:0001159
2 mild postnatal growth retardation 32 HP:0001530
3 splenomegaly 32 HP:0001744
4 hydrops fetalis 32 HP:0001789
5 reticulocytosis 32 HP:0001923
6 endopolyploidy on chromosome studies of bone marrow 32 HP:0003352
7 reduced activity of n-acetylglucosaminyltransferase ii 32 HP:0003655
8 poikilocytosis 32 HP:0004447
9 macrocytic dyserythropoietic anemia 32 HP:0005532
10 prolonged neonatal jaundice 32 HP:0006579
11 anisocytosis 32 HP:0011273
12 erythroid hyperplasia 32 HP:0012132

UMLS symptoms related to Anemia, Congenital Dyserythropoietic, Type Ia:


icterus

Drugs & Therapeutics for Anemia, Congenital Dyserythropoietic, Type Ia

Drugs for Anemia, Congenital Dyserythropoietic, Type Ia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iron Approved Phase 4 7439-89-6 23925
2
Omeprazole Approved, Investigational, Vet_approved Phase 4 73590-58-6 4594
3 Gastrointestinal Agents Phase 4
4 Antacids Phase 4
5 Proton Pump Inhibitors Phase 4
6 Anti-Ulcer Agents Phase 4

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Evaluation of the Efficacy in Decreasing Iron Absorption in Patients With Congenital Dyserythropoietic Anemia Type I by Treatment With LOSEC Unknown status NCT01795794 Phase 4 omeprazole
2 GDF 15 in Sickle Cell Disease and Hereditary Spherocytosis Unknown status NCT01201135
3 The Congenital Dyserythropoietic Anemia Registry (CDAR) Recruiting NCT02964494

Search NIH Clinical Center for Anemia, Congenital Dyserythropoietic, Type Ia

Genetic Tests for Anemia, Congenital Dyserythropoietic, Type Ia

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

# Genetic test Affiliating Genes
1 Congenital Dyserythropoietic Anemia, Type I 29 CDAN1

Anatomical Context for Anemia, Congenital Dyserythropoietic, Type Ia

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

41
Bone, Heart, Bone Marrow, Liver, Skin, Spleen, Eye

Publications for Anemia, Congenital Dyserythropoietic, Type Ia

Articles related to Anemia, Congenital Dyserythropoietic, Type Ia:

# Title Authors Year
1
Congenital dyserythropoietic anemia type I (CDA I): molecular genetics, clinical appearance, and prognosis based on long-term observation. ( 16141353 )
2006
2
Type I congenital dyserythropoietic anemia (CDA I): ultrastructural findings. ( 6404705 )
1983

Variations for Anemia, Congenital Dyserythropoietic, Type Ia

UniProtKB/Swiss-Prot genetic disease variations for Anemia, Congenital Dyserythropoietic, Type Ia:

75
# Symbol AA change Variation ID SNP ID
1 CDAN1 p.Asn599Ser VAR_017218 rs120074166
2 CDAN1 p.Pro672Leu VAR_017219 rs120074167
3 CDAN1 p.Glu698Lys VAR_017220
4 CDAN1 p.Arg714Trp VAR_017221 rs80338696
5 CDAN1 p.Phe868Ile VAR_017222 rs120074168
6 CDAN1 p.Val869Met VAR_017223 rs370895637
7 CDAN1 p.Arg1042Trp VAR_017224 rs80338697
8 CDAN1 p.Asp1043Val VAR_017225 rs80338698
9 CDAN1 p.Pro1130Leu VAR_017226 rs80338699

ClinVar genetic disease variations for Anemia, Congenital Dyserythropoietic, Type Ia:

6
(show all 20)
# Gene Variation Type Significance SNP ID Assembly Location
1 CDAN1 NM_138477.3(CDAN1): c.3124C> T (p.Arg1042Trp) single nucleotide variant Pathogenic rs80338697 GRCh37 Chromosome 15, 43018588: 43018588
2 CDAN1 NM_138477.3(CDAN1): c.3124C> T (p.Arg1042Trp) single nucleotide variant Pathogenic rs80338697 GRCh38 Chromosome 15, 42726390: 42726390
3 CDAN1 NM_138477.3(CDAN1): c.3389C> T (p.Pro1130Leu) single nucleotide variant Pathogenic rs80338699 GRCh37 Chromosome 15, 43017748: 43017748
4 CDAN1 NM_138477.3(CDAN1): c.3389C> T (p.Pro1130Leu) single nucleotide variant Pathogenic rs80338699 GRCh38 Chromosome 15, 42725550: 42725550
5 CDAN1 NM_138477.3(CDAN1): c.1796A> G (p.Asn599Ser) single nucleotide variant Pathogenic rs120074166 GRCh37 Chromosome 15, 43023473: 43023473
6 CDAN1 NM_138477.3(CDAN1): c.1796A> G (p.Asn599Ser) single nucleotide variant Pathogenic rs120074166 GRCh38 Chromosome 15, 42731275: 42731275
7 CDAN1 NM_138477.2(CDAN1): c.2015C> T (p.Pro672Leu) single nucleotide variant Likely pathogenic rs120074167 GRCh37 Chromosome 15, 43022955: 43022955
8 CDAN1 NM_138477.2(CDAN1): c.2015C> T (p.Pro672Leu) single nucleotide variant Likely pathogenic rs120074167 GRCh38 Chromosome 15, 42730757: 42730757
9 CDAN1 NM_138477.3(CDAN1): c.2602T> A (p.Phe868Ile) single nucleotide variant Pathogenic rs120074168 GRCh37 Chromosome 15, 43021264: 43021264
10 CDAN1 NM_138477.3(CDAN1): c.2602T> A (p.Phe868Ile) single nucleotide variant Pathogenic rs120074168 GRCh38 Chromosome 15, 42729066: 42729066
11 CDAN1 NM_138477.3(CDAN1): c.1860+5G> A single nucleotide variant Pathogenic rs113313967 GRCh37 Chromosome 15, 43023404: 43023404
12 CDAN1 NM_138477.3(CDAN1): c.1860+5G> A single nucleotide variant Pathogenic rs113313967 GRCh38 Chromosome 15, 42731206: 42731206
13 CDAN1 NM_138477.3(CDAN1): c.1117_1119delGTT (p.Val373del) deletion Pathogenic rs120074169 GRCh37 Chromosome 15, 43027315: 43027317
14 CDAN1 NM_138477.3(CDAN1): c.1117_1119delGTT (p.Val373del) deletion Pathogenic rs120074169 GRCh38 Chromosome 15, 42735117: 42735119
15 CDAN1 NM_138477.2(CDAN1): c.156C> G (p.Phe52Leu) single nucleotide variant Likely pathogenic rs80338694 GRCh37 Chromosome 15, 43028913: 43028913
16 CDAN1 NM_138477.2(CDAN1): c.156C> G (p.Phe52Leu) single nucleotide variant Likely pathogenic rs80338694 GRCh38 Chromosome 15, 42736715: 42736715
17 CDAN1 NM_138477.3(CDAN1): c.2140C> T (p.Arg714Trp) single nucleotide variant Pathogenic rs80338696 GRCh37 Chromosome 15, 43022830: 43022830
18 CDAN1 NM_138477.3(CDAN1): c.2140C> T (p.Arg714Trp) single nucleotide variant Pathogenic rs80338696 GRCh38 Chromosome 15, 42730632: 42730632
19 CDAN1 NM_138477.2(CDAN1): c.3128A> T (p.Asp1043Val) single nucleotide variant Pathogenic rs80338698 GRCh37 Chromosome 15, 43018584: 43018584
20 CDAN1 NM_138477.2(CDAN1): c.3128A> T (p.Asp1043Val) single nucleotide variant Pathogenic rs80338698 GRCh38 Chromosome 15, 42726386: 42726386

Expression for Anemia, Congenital Dyserythropoietic, Type Ia

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

Pathways for Anemia, Congenital Dyserythropoietic, Type Ia

GO Terms for Anemia, Congenital Dyserythropoietic, Type Ia

Sources for Anemia, Congenital Dyserythropoietic, Type Ia

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