MCID: DYS156
MIFTS: 36

Dyserythropoietic Anemia, Congenital, Type Ia malady

Genetic diseases, Rare diseases, Blood diseases, Metabolic diseases categories

Summaries for Dyserythropoietic Anemia, Congenital, Type Ia

About this section


OMIM:47 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 type i congenital dyserythropoietic anemia, is related to congenital dyserythropoietic anemia and pulmonary hypertension, and has symptoms including syndactyly, autosomal recessive inheritance and mild postnatal growth retardation. An important gene associated with Dyserythropoietic Anemia, Congenital, Type Ia is CDAN1 (codanin 1). Affiliated tissues include heart, bone and eye.

NIH Rare Diseases:43 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 gene. it is inherited in an autosomal recessive pattern. last updated: 5/23/2012

GeneReviews summary for cda1

Aliases & Classifications for Dyserythropoietic Anemia, Congenital, Type Ia

About this section
Sources:
47OMIM, 11diseasecard, 21GeneReviews, 43NIH Rare Diseases, 22GeneTests, 45Novoseek, 49Orphanet, 24GTR, 28ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

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

Name: Dyserythropoietic Anemia, Congenital, Type Ia 47
Type I Congenital Dyserythropoietic Anemia 43 22 24
Congenital Dyserythropoietic Anemia Type I 21 43 49
Cda I 43 45 49
Congenital Dyserythropoietic Anemia Type 1 43 49
Cda Type I 43 49
 
Cda Type 1 43 49
Anemia, Congenital Dyserythropoietic, Type Ia 47
Anemia, Congenital Dyserythropoietic, Type I 11
Anemia, Dyserythropoietic, Congenital Type 1 43
Dyserythropoietic Anemia, Congenital Type 1 43


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Metabolic diseases
Anatomical: Blood diseases


Characteristics (Orphanet epidemiological data):

49
congenital dyserythropoietic anemia type i:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Europe),<1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: adult


External Ids:

OMIM47 224120
Orphanet49 98869
ICD10 via Orphanet28 D64.4
UMLS via Orphanet63 C0271933

Related Diseases for Dyserythropoietic Anemia, Congenital, Type Ia

About this section

Diseases in the Congenital Dyserythropoietic Anemia family:

Dyserythropoietic Anemia, Congenital, Type Ib dyserythropoietic anemia, congenital, type ia
Dyserythropoietic Anemia, Congenital, Type Iii Dyserythropoietic Anemia, Congenital, Type Iv
Dyserythropoietic Anemia, Congenital, Type Ii

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

idRelated DiseaseScoreTop Affiliating Genes
1congenital dyserythropoietic anemia11.1
2pulmonary hypertension10.5
3hemochromatosis10.4
4dyserythropoietic anemia, congenital, type ib10.4
5hemolytic anemia10.4
6congenital hemolytic anemia10.4

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



Diseases related to dyserythropoietic anemia, congenital, type ia

Symptoms for Dyserythropoietic Anemia, Congenital, Type Ia

About this section

Symptoms by clinical synopsis from OMIM:

224120

Clinical features from OMIM:

224120

HPO human phenotypes related to Dyserythropoietic Anemia, Congenital, Type Ia:

(show all 13)
id Description Frequency HPO Source Accession
1 syndactyly rare (5%) HP:0001159
2 autosomal recessive inheritance HP:0000007
3 mild postnatal growth retardation HP:0001530
4 splenomegaly HP:0001744
5 hydrops fetalis HP:0001789
6 reticulocytosis HP:0001923
7 endopolyploidy on chromosome studies of bone marrow HP:0003352
8 reduced activity of n-acetylglucosaminyltransferase ii HP:0003655
9 poikilocytosis HP:0004447
10 macrocytic dyserythropoietic anemia HP:0005532
11 prolonged neonatal jaundice HP:0006579
12 anisocytosis HP:0011273
13 erythroid hyperplasia HP:0012132

Drugs & Therapeutics for Dyserythropoietic Anemia, Congenital, Type Ia

About this section

Drug clinical trials:

Search ClinicalTrials for Dyserythropoietic Anemia, Congenital, Type Ia

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

Genetic Tests for Dyserythropoietic Anemia, Congenital, Type Ia

About this section

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

id Genetic test Affiliating Genes
1 Congenital Dyserythropoietic Anemia Type I22 CDAN1
2 Congenital Dyserythropoietic Anemia, Type I24

Anatomical Context for Dyserythropoietic Anemia, Congenital, Type Ia

About this section

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

33
Heart, Bone, Eye, Spleen, Liver, Skin, Bone marrow

Animal Models for Dyserythropoietic Anemia, Congenital, Type Ia or affiliated genes

About this section

Publications for Dyserythropoietic Anemia, Congenital, Type Ia

About this section

Variations for Dyserythropoietic Anemia, Congenital, Type Ia

About this section

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

64
id Symbol AA change Variation ID SNP ID
1CDAN1p.Asn599SerVAR_017218
2CDAN1p.Pro672LeuVAR_017219
3CDAN1p.Glu698LysVAR_017220
4CDAN1p.Arg714TrpVAR_017221rs80338696
5CDAN1p.Phe868IleVAR_017222
6CDAN1p.Val869MetVAR_017223
7CDAN1p.Arg1042TrpVAR_017224
8CDAN1p.Asp1043ValVAR_017225
9CDAN1p.Pro1130LeuVAR_017226

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

7 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1CDAN1NM_138477.2(CDAN1): c.156C> G (p.Phe52Leu)single nucleotide variantPathogenicrs80338694GRCh37Chr 15, 43028913: 43028913
2CDAN1NM_138477.2(CDAN1): c.2140C> T (p.Arg714Trp)single nucleotide variantPathogenicrs80338696GRCh37Chr 15, 43022830: 43022830
3CDAN1NM_138477.2(CDAN1): c.3128A> T (p.Asp1043Val)single nucleotide variantPathogenicrs80338698GRCh37Chr 15, 43018584: 43018584
4CDAN1NM_138477.2(CDAN1): c.3124C> T (p.Arg1042Trp)single nucleotide variantPathogenicrs80338697GRCh37Chr 15, 43018588: 43018588
5CDAN1NM_138477.2(CDAN1): c.3389C> T (p.Pro1130Leu)single nucleotide variantPathogenicrs80338699GRCh37Chr 15, 43017748: 43017748
6CDAN1NM_138477.2(CDAN1): c.1796A> G (p.Asn599Ser)single nucleotide variantPathogenicrs120074166GRCh37Chr 15, 43023473: 43023473
7CDAN1NM_138477.2(CDAN1): c.2012C> T (p.Pro671Leu)single nucleotide variantPathogenicrs80338695GRCh37Chr 15, 43022958: 43022958
8CDAN1NM_138477.2(CDAN1): c.2602T> A (p.Phe868Ile)single nucleotide variantPathogenicrs120074168GRCh37Chr 15, 43021264: 43021264
9CDAN1NM_138477.2(CDAN1): c.1860+5G> Asingle nucleotide variantPathogenicrs113313967GRCh37Chr 15, 43023404: 43023404
10CDAN1NM_138477.2(CDAN1): c.1117_1119delGTT (p.Val373del)deletionPathogenicrs120074169GRCh37Chr 15, 43027315: 43027317
11C15orf41NM_001130010.2(C15orf41): c.533T> A (p.Leu178Gln)single nucleotide variantPathogenicGRCh37Chr 15, 36989580: 36989580
12C15orf41NM_001130010.2(C15orf41): c.281A> G (p.Tyr94Cys)single nucleotide variantPathogenicGRCh37Chr 15, 36950041: 36950041

Expression for genes affiliated with Dyserythropoietic Anemia, Congenital, Type Ia

About this section

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

Pathways for genes affiliated with Dyserythropoietic Anemia, Congenital, Type Ia

About this section

Compounds for genes affiliated with Dyserythropoietic Anemia, Congenital, Type Ia

About this section

GO Terms for genes affiliated with Dyserythropoietic Anemia, Congenital, Type Ia

About this section

Products for genes affiliated with Dyserythropoietic Anemia, Congenital, Type Ia

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Dyserythropoietic Anemia, Congenital, Type Ia

About this section
4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet