CDAN1A
MCID: DYS156
MIFTS: 35

Dyserythropoietic Anemia, Congenital, Type Ia (CDAN1A) malady

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

Aliases & Classifications for Dyserythropoietic Anemia, Congenital, Type Ia

Aliases & Descriptions for Dyserythropoietic Anemia, Congenital, Type Ia:

Name: Dyserythropoietic Anemia, Congenital, Type Ia 54
Congenital Dyserythropoietic Anemia Type I 23 24 56 66
Cda I 50 56 66 52
Congenital Dyserythropoietic Anemia Type 1 50 24 56
Type I Congenital Dyserythropoietic Anemia 50 29
Anemia, Dyserythropoietic, Congenital Type 1 50
Anemia, Congenital Dyserythropoietic, Type I 13
Dyserythropoietic Anemia, Congenital Type 1 50
Congenital Dyserythropoietic Anemia Type Ia 66
Congenital Dyserythropoietic Anemia, Type I 69
Anemia, Congenital Dyserythropoietic, 1a 66
Cda Type 1 56
Cda Type I 56
Cda Ia 66
Cdan1a 66

Characteristics:

Orphanet epidemiological data:

56
congenital dyserythropoietic anemia type i
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Europe),<1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: adult;

HPO:

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


Classifications:



External Ids:

OMIM 54 224120
Orphanet 56 ORPHA98869
UMLS via Orphanet 70 C0271933
ICD10 via Orphanet 34 D64.4
MedGen 40 C0271933
MeSH 42 D000742

Summaries for Dyserythropoietic Anemia, Congenital, Type Ia

OMIM : 54 CDA type I is a rare inherited red blood cell disorder characterized by macrocytic anemia, ineffective erythropoiesis,... (224120) more...

MalaCards based summary : Dyserythropoietic Anemia, Congenital, Type Ia, also known as congenital dyserythropoietic anemia type i, is related to dyserythropoietic anemia, congenital, type ib and congenital dyserythropoietic anemia, and has symptoms including splenomegaly, hydrops fetalis and reticulocytosis. An important gene associated with Dyserythropoietic Anemia, Congenital, 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 Decreased viability and Increased gamma-H2AX phosphorylation

NIH Rare Diseases : 50 congenital dyserythropoietic anemia (cda) type 1 is an inherited blood 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. last updated: 2/20/2017

UniProtKB/Swiss-Prot : 66 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.

GeneReviews: NBK5313

Related Diseases for Dyserythropoietic Anemia, Congenital, Type Ia

Diseases in the Congenital Dyserythropoietic Anemia family:

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

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

id Related Disease Score Top Affiliating Genes
1 dyserythropoietic anemia, congenital, type ib 11.1
2 congenital dyserythropoietic anemia 10.7
3 pulmonary hypertension 10.1
4 hemochromatosis 9.9
5 thalassemia 9.9
6 branchiootorenal syndrome 9.8 C15orf41 CDAN1
7 glomerulosclerosis, focal segmental, 6 9.8 C15orf41 CDAN1
8 gastrointestinal anthrax 9.7 C15orf41 CDAN1

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



Diseases related to Dyserythropoietic Anemia, Congenital, Type Ia

Symptoms & Phenotypes for Dyserythropoietic Anemia, Congenital, Type Ia

Symptoms by clinical synopsis from OMIM:

224120

Clinical features from OMIM:

224120

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

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

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


icterus

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00381-A-1 8.96 C15orf41 CDAN1
2 Increased gamma-H2AX phosphorylation GR00053-A 8.62 C15orf41 CDAN1

Drugs & Therapeutics for Dyserythropoietic Anemia, Congenital, Type Ia

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

(show all 6)
id 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
Proton pump inhibitors Phase 4
4 Gastrointestinal Agents Phase 4
5 Antacids Phase 4
6 Anti-Ulcer Agents Phase 4

Interventional clinical trials:


id Name Status NCT ID Phase
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
2 GDF 15 in Sickle Cell Disease and Hereditary Spherocytosis Unknown status NCT01201135

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

Genetic Tests for Dyserythropoietic Anemia, Congenital, Type Ia

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

id Genetic test Affiliating Genes
1 Congenital Dyserythropoietic Anemia, Type I 29
2 Congenital Dyserythropoietic Anemia Type I 24 CDAN1

Anatomical Context for Dyserythropoietic Anemia, Congenital, Type Ia

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

39
Bone, Heart, Bone Marrow, Skin, Eye, Liver, Spleen

Publications for Dyserythropoietic Anemia, Congenital, Type Ia

Variations for Dyserythropoietic Anemia, Congenital, Type Ia

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

66
id 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 Dyserythropoietic Anemia, Congenital, Type Ia:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 CDAN1 NM_138477.2(CDAN1): c.3124C> T (p.Arg1042Trp) single nucleotide variant Pathogenic rs80338697 GRCh37 Chromosome 15, 43018588: 43018588
2 CDAN1 NM_138477.2(CDAN1): c.3389C> T (p.Pro1130Leu) single nucleotide variant Pathogenic rs80338699 GRCh37 Chromosome 15, 43017748: 43017748
3 CDAN1 NM_138477.2(CDAN1): c.1796A> G (p.Asn599Ser) single nucleotide variant Pathogenic rs120074166 GRCh37 Chromosome 15, 43023473: 43023473
4 CDAN1 NM_138477.2(CDAN1): c.2015C> T (p.P672L) single nucleotide variant Pathogenic/Likely pathogenic rs120074167 GRCh37 Chromosome 15, 43022955: 43022955
5 CDAN1 NM_138477.2(CDAN1): c.2602T> A (p.Phe868Ile) single nucleotide variant Pathogenic rs120074168 GRCh37 Chromosome 15, 43021264: 43021264
6 CDAN1 NM_138477.2(CDAN1): c.1860+5G> A single nucleotide variant Pathogenic rs113313967 GRCh37 Chromosome 15, 43023404: 43023404
7 CDAN1 NM_138477.2(CDAN1): c.1117_1119delGTT (p.Val373del) deletion Pathogenic rs120074169 GRCh37 Chromosome 15, 43027315: 43027317
8 CDAN1 NM_138477.2(CDAN1): c.156C> G (p.Phe52Leu) single nucleotide variant Pathogenic/Likely pathogenic rs80338694 GRCh37 Chromosome 15, 43028913: 43028913
9 CDAN1 NM_138477.2(CDAN1): c.2140C> T (p.Arg714Trp) single nucleotide variant Pathogenic rs80338696 GRCh37 Chromosome 15, 43022830: 43022830
10 CDAN1 NM_138477.2(CDAN1): c.3128A> T (p.Asp1043Val) single nucleotide variant Pathogenic rs80338698 GRCh37 Chromosome 15, 43018584: 43018584

Expression for Dyserythropoietic Anemia, Congenital, Type Ia

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

Pathways for Dyserythropoietic Anemia, Congenital, Type Ia

GO Terms for Dyserythropoietic Anemia, Congenital, Type Ia

Sources for Dyserythropoietic Anemia, Congenital, Type Ia

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65 SNOMED-CT via Orphanet
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70 UMLS via Orphanet
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