CDAN1A
MCID: ANM043
MIFTS: 38

Anemia, Congenital Dyserythropoietic, Type Ia (CDAN1A)

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

Aliases & Classifications for Anemia, Congenital Dyserythropoietic, Type Ia

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

Name: Anemia, Congenital Dyserythropoietic, Type Ia 58
Cda I 54 60 76 56
Congenital Dyserythropoietic Anemia, Type I 30 6 74
Congenital Dyserythropoietic Anemia Type I 25 60 76
Anemia, Congenital Dyserythropoietic, Type I 58 13
Dyserythropoietic Anemia, Congenital Type 1 77 54
Congenital Dyserythropoietic Anemia Type 1 54 60
Cdan1a 58 76
Cda Ia 58 76
Anemia, Dyserythropoietic, Congenital, Type Ia 41
Dyserythropoietic Anemia, Congenital, Type Ia 58
Anemia, Dyserythropoietic, Congenital Type 1 54
Congenital Dyserythropoietic Anemia Type Ia 76
Type I Congenital Dyserythropoietic Anemia 54
Anemia, Congenital Dyserythropoietic, 1a 76
Cda Type 1 60
Cda Type I 60

Characteristics:

Orphanet epidemiological data:

60
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:

58
Inheritance:
autosomal recessive

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


HPO:

33
anemia, congenital dyserythropoietic, type ia:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 224120
MeSH 45 D000742
ICD10 via Orphanet 35 D64.4
UMLS via Orphanet 75 C0271933
Orphanet 60 ORPHA98869
MedGen 43 C0271933
UMLS 74 C0271933

Summaries for Anemia, Congenital Dyserythropoietic, Type Ia

OMIM : 58 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 Omeprazole and Iron have been mentioned in the context of this disorder. Affiliated tissues include bone, heart and bone marrow, and related phenotypes are syndactyly and splenomegaly

NIH Rare Diseases : 54 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.

UniProtKB/Swiss-Prot : 76 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.

Wikipedia : 77 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

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

33 (show all 12)
# Description HPO Frequency HPO Source Accession
1 syndactyly 33 occasional (7.5%) HP:0001159
2 splenomegaly 33 HP:0001744
3 hydrops fetalis 33 HP:0001789
4 reticulocytosis 33 HP:0001923
5 prolonged neonatal jaundice 33 HP:0006579
6 mild postnatal growth retardation 33 HP:0001530
7 poikilocytosis 33 HP:0004447
8 anisocytosis 33 HP:0011273
9 endopolyploidy on chromosome studies of bone marrow 33 HP:0003352
10 reduced activity of n-acetylglucosaminyltransferase ii 33 HP:0003655
11 macrocytic dyserythropoietic anemia 33 HP:0005532
12 erythroid hyperplasia 33 HP:0012132

Symptoms via clinical synopsis from OMIM:

58
Abdomen Spleen:
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

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


icterus

GenomeRNAi Phenotypes related to Anemia, Congenital Dyserythropoietic, Type Ia according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00381-A-1 8.92 C15orf41 CDAN1
2 Decreased viability GR00402-S-2 8.92 C15orf41 CDAN1

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
Omeprazole Approved, Investigational, Vet_approved Phase 4 73590-58-6 4594
2
Iron Approved, Experimental Phase 4 7439-89-6, 15438-31-0 23925 27284
3 Anti-Ulcer Agents Phase 4
4 Antacids Phase 4
5 Gastrointestinal Agents Phase 4
6 Proton Pump Inhibitors 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 30 CDAN1

Anatomical Context for Anemia, Congenital Dyserythropoietic, Type Ia

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

42
Bone, Heart, Bone Marrow, Skin, Liver, Eye, Spleen

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
Short report: erythrocyte membranes from a patient with congenital dyserythropoietic anaemia type I (CDA-I) show identical, although less pronounced, glycoconjugate abnormalities to those from patients with CDA-II (HEMPAS). ( 11054095 )
2000
3
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:

76
# 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 28)
# Gene Variation Type Significance SNP ID Assembly Location
1 CDAN1 NM_138477.4(CDAN1): c.3124C> T (p.Arg1042Trp) single nucleotide variant Pathogenic rs80338697 GRCh37 Chromosome 15, 43018588: 43018588
2 CDAN1 NM_138477.4(CDAN1): c.3124C> T (p.Arg1042Trp) single nucleotide variant Pathogenic rs80338697 GRCh38 Chromosome 15, 42726390: 42726390
3 CDAN1 NM_138477.4(CDAN1): c.3389C> T (p.Pro1130Leu) single nucleotide variant Pathogenic rs80338699 GRCh37 Chromosome 15, 43017748: 43017748
4 CDAN1 NM_138477.4(CDAN1): c.3389C> T (p.Pro1130Leu) single nucleotide variant Pathogenic rs80338699 GRCh38 Chromosome 15, 42725550: 42725550
5 CDAN1 NM_138477.4(CDAN1): c.1796A> G (p.Asn599Ser) single nucleotide variant Pathogenic rs120074166 GRCh37 Chromosome 15, 43023473: 43023473
6 CDAN1 NM_138477.4(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_138477.4(CDAN1): c.2602T> A (p.Phe868Ile) single nucleotide variant Pathogenic rs120074168 GRCh37 Chromosome 15, 43021264: 43021264
10 CDAN1 NM_138477.4(CDAN1): c.2602T> A (p.Phe868Ile) single nucleotide variant Pathogenic rs120074168 GRCh38 Chromosome 15, 42729066: 42729066
11 CDAN1 NM_138477.4(CDAN1): c.1860+5G> A single nucleotide variant Pathogenic rs113313967 GRCh37 Chromosome 15, 43023404: 43023404
12 CDAN1 NM_138477.4(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_138477.4(CDAN1): c.1787A> G (p.Gln596Arg) single nucleotide variant Benign rs12917189 GRCh37 Chromosome 15, 43023482: 43023482
18 CDAN1 NM_138477.4(CDAN1): c.1787A> G (p.Gln596Arg) single nucleotide variant Benign rs12917189 GRCh38 Chromosome 15, 42731284: 42731284
19 CDAN1 NM_138477.4(CDAN1): c.2140C> T (p.Arg714Trp) single nucleotide variant Pathogenic rs80338696 GRCh37 Chromosome 15, 43022830: 43022830
20 CDAN1 NM_138477.4(CDAN1): c.2140C> T (p.Arg714Trp) single nucleotide variant Pathogenic rs80338696 GRCh38 Chromosome 15, 42730632: 42730632
21 CDAN1 NM_138477.2(CDAN1): c.2671C> T (p.Arg891Cys) single nucleotide variant Benign rs8023524 GRCh37 Chromosome 15, 43020983: 43020983
22 CDAN1 NM_138477.2(CDAN1): c.2671C> T (p.Arg891Cys) single nucleotide variant Benign rs8023524 GRCh38 Chromosome 15, 42728785: 42728785
23 CDAN1 NM_138477.2(CDAN1): c.3128A> T (p.Asp1043Val) single nucleotide variant Pathogenic rs80338698 GRCh37 Chromosome 15, 43018584: 43018584
24 CDAN1 NM_138477.2(CDAN1): c.3128A> T (p.Asp1043Val) single nucleotide variant Pathogenic rs80338698 GRCh38 Chromosome 15, 42726386: 42726386
25 CDAN1 NM_138477.2(CDAN1): c.320A> T (p.Gln107Leu) single nucleotide variant Benign rs4265781 GRCh37 Chromosome 15, 43028749: 43028749
26 CDAN1 NM_138477.2(CDAN1): c.320A> T (p.Gln107Leu) single nucleotide variant Benign rs4265781 GRCh38 Chromosome 15, 42736551: 42736551
27 CDAN1 NM_138477.4(CDAN1): c.386G> A (p.Arg129His) single nucleotide variant Likely benign rs12441516 GRCh37 Chromosome 15, 43028683: 43028683
28 CDAN1 NM_138477.4(CDAN1): c.386G> A (p.Arg129His) single nucleotide variant Likely benign rs12441516 GRCh38 Chromosome 15, 42736485: 42736485

Expression for Anemia, Congenital Dyserythropoietic, Type Ia

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GO Terms for Anemia, Congenital Dyserythropoietic, Type Ia

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