MCID: DYS156
MIFTS: 35

Dyserythropoietic Anemia, Congenital, Type Ia malady

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

Aliases & Classifications for Dyserythropoietic Anemia, Congenital, Type Ia

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Sources:
50OMIM, 22GeneReviews, 46NIH Rare Diseases, 23GeneTests, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 48Novoseek, 66UMLS, 29ICD10 via Orphanet, 67UMLS via Orphanet, 35MedGen, 37MeSH, 62The Human Phenotype Ontology
See all MalaCards sources

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

Name: Dyserythropoietic Anemia, Congenital, Type Ia 50
Congenital Dyserythropoietic Anemia Type I 22 23 52 68
Cda I 46 52 68 48
Congenital Dyserythropoietic Anemia Type 1 46 23 52
Type I Congenital Dyserythropoietic Anemia 46 25
Anemia, Congenital Dyserythropoietic, Type I 12
Anemia, Dyserythropoietic, Congenital Type 1 46
Congenital Dyserythropoietic Anemia, Type I 66
 
Congenital Dyserythropoietic Anemia Type Ia 68
Dyserythropoietic Anemia, Congenital Type 1 46
Anemia, Congenital Dyserythropoietic, 1a 68
Cda Type I 52
Cda Type 1 52
Cdan1a 68
Cda Ia 68

Characteristics:

Orphanet epidemiological data:

52
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:

62
dyserythropoietic anemia, congenital, type ia:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 224120
Orphanet52 ORPHA98869
ICD10 via Orphanet29 D64.4
UMLS via Orphanet67 C0271933
MedGen35 C0271933
MeSH37 D000742

Summaries for Dyserythropoietic Anemia, Congenital, Type Ia

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OMIM:50 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 congenital dyserythropoietic anemia and dyserythropoietic anemia, congenital, type ib, and has symptoms including syndactyly, mild postnatal growth retardation and splenomegaly. An important gene associated with Dyserythropoietic Anemia, Congenital, Type Ia is CDAN1 (Codanin 1). Affiliated tissues include bone, heart and bone marrow.

NIH Rare Diseases:46 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 and c150rf41 genes. it is inherited in an autosomal recessive pattern. treatment involves medication like interferon and sometimes bone marrow transplant and removal of the spleen. last updated: 12/10/2015

UniProtKB/Swiss-Prot:68 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 summary for NBK5313

Related Diseases for Dyserythropoietic Anemia, Congenital, Type Ia

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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

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Symptoms by clinical synopsis from OMIM:

224120

Clinical features from OMIM:

224120

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

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

Drugs & Therapeutics for Dyserythropoietic Anemia, Congenital, Type Ia

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Proton pump inhibitorsPhase 41057
Synonyms:
 
PPIs
2
OmeprazolePhase 433173590-58-64594
Synonyms:
( -)-Omeprazole
(-)-Omeprazole
(S)-(-)-Omeprazole
(S)-Omeprazole
119141-89-8
131959-78-9
172964-80-6
2,3,5-Trimethylpyridine/Omeprazole
2-(((3,5-Dimethyl-4-methoxy-2-pyridyl)methyl)sulfinyl)-5-methoxy-1H-benzimidazole
2-({[3,5-dimethyl-4-(methyloxy)pyridin-2-yl]methyl}sulfinyl)-5-(methyloxy)-1H-benzimidazole
5-Methoxy-2-(((4-methoxy-3,5-dimethyl-2-pyridyl)methyl)sulfinyl)benzimidazole
5-Methoxy-2-[[(4-methoxy-3,5-dimethyl-2-pyridinyl)methyl]sulfinyl]-1H-benzimidazole
5-Methoxy-2[(4-methoxy-3,5-dimethyl-2-pyridyl)methylsulfinyl]-1H-benzimidazole
5-methoxy-2-{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl}-1H-benzimidazole
6-methoxy-2-[(4-methoxy-3,5-dimethylpyridin-2-yl)methylsulfinyl]-1H-benzimidazole
73590-58-6
AC-401
AC1L1IIJ
AGI-010
AKOS005066653
AULCER
Antra
Antra MUPS
Audazol
Aulcer
Axagon
BIDD:GT0189
BPBio1_000425
BRD-A55962179-001-04-9
BSPBio_000385
Belmazol
Bio-0888
C07324
CAS-73590-58-6
CCRIS 7099
CHEBI:519601
CHEBI:7772
CHEMBL1503
CID4594
CPD000058847
Ceprandal
D00455
DB00338
DB00736
DM-3458
Danlox
Demeprazol
Desec
Dizprazol
Dudencer
Elgam
Emeproton
Emilok
Epirazole
Erbolin
Esomeprazole
Esomperazole
Esopral
Exter
Gasec
Gastrimut
Gastroloc
Gibancer
H 168-68
H 168/68
H-168/68
H168/68
HMS1528I05
HMS1569D07
HMS2052G17
HMS2090E16
HMS2090F11
HSDB 3575
I06-0705
IDI1_032523
Indurgan
Inhibitron
Inhipump
LS-7629
Lensor
Logastric
Lomac
Losec
Losec, Omesec, Prilosec, Zegerid, Omeprazole
Lucen
MLS000069373
MLS001076112
MLS001424148
Maybridge4_002645
Mepral
Miol
Miracid
MolPort-003-666-741
MolPort-003-807-515
MolPort-003-849-702
Mopral
Morecon
NCGC00016925-01
 
NCGC00016925-02
NCGC00021522-03
NCGC00021522-04
NCGC00021522-05
Nexiam
Nexium
Nexium IV
Nilsec
Nopramin
Nuclosina
O0359
O104_SIGMA
OMEP
OMP
OMZ
Ocid
Olexin
Olit
Omapren
Omebeta
Omebeta 20
Omed
Omegast
Omepradex
Omepral
Omeprazol
Omeprazol [INN-Spanish]
Omeprazole
Omeprazole (JAN/USP/INN)
Omeprazole Pellets
Omeprazole [USAN:INN:BAN:JAN]
Omeprazole delayed-release
Omeprazole magnesium
Omeprazolum
Omeprazolum [INN-Latin]
Omeprazon
Omeprazone
Omeprol
Omesek
Omez
Omezol
Omezolan
Omid
Omisec
Omizac
Ompanyt
Ortanol
Osiren
Ozoken
Paprazol
Parizac
Pepticum
Pepticus
Peptilcer
Prazentol
Prazidec
Prazolit
Prestwick0_000493
Prestwick1_000493
Prestwick2_000493
Prestwick3_000493
Prestwick_808
Prilosec
Prilosec (TN)
Prilosec OTC
Procelac
Proclor
Prysma
Ramezol
Regulacid
Result
S1389_Selleck
SAM001246900
SAN-15
SMR000058847
SPBio_002306
STK623746
Sanamidol
Secrepina
TL8005099
Tedec Ulceral
UNII-KG60484QX9
UPCMLD-DP075
UPCMLD-DP075:001
Ulceral
Ulcesep
Ulcometion
Ulcozol
Ulcsep
Ulsen
Ultop
Ulzol
Victrix
Zefxon
Zegerid
Zepral
Zimor
Zoltum
esomeprazol
omeprazole
3
IronPhase 410807439-89-623925
Synonyms:
02583_FLUKA
12310_ALDRICH
12310_RIEDEL
129048-51-7
14067-02-8
161135-39-3
190454-13-8
195161-83-2
199281-22-6
209309_ALDRICH
209309_SIAL
255637_ALDRICH
266213_ALDRICH
266256_ALDRICH
267945_ALDRICH
267953_ALDRICH
26Fe
338141_ALDRICH
356808_ALDRICH
356824_ALDRICH
356832_ALDRICH
39344-71-3
3ZhP
413054_ALDRICH
443783-52-6
44890_ALDRICH
44890_FLUKA
675141-17-0
70884-35-4
73135-38-3
7439-89-6
8011-79-8
8053-60-9
AC1L2N38
ATW 230
ATW 432
Ancor B
Ancor en 80/150
Armco iron
Atomel 28
Atomel 300M200
Atomel 500M
Atomel 95
Atomiron 44MR
Atomiron 5M
Atomiron AFP 25
Atomiron AFP 5
C00023
C3518_SIAL
C3518_SIGMA
CCRIS 1580
CHEBI:18248
CID23925
Carbonyl iron
Copy Powder CS 105-175
D007501
DB01592
DSP 1000
DSP 128B
DSP 135
DSP 135C
DSP 138
Diseases (animal), iron overload
Diseases, iron overload
EF 1000
EF 250
EFV 200/300
EFV 250
EFV 250/400
EINECS 231-096-4
 
Ed-In-Sol
Eisen
Electrolytic iron
F 60 (metal)
FE
FT 3 (element)
Fe
Fe-40
Fe1+
Feronate
Ferretts
Ferro-Caps
Ferro-Time
Ferrousal
Ferrovac E
Ferrum
Ferrum metallicum
GS 6
HF 2 (element)
HL (iron)
HQ (metal)
HS (iron)
HS 4849
HSDB 604
Hemocyte
Hierro
Hoeganaes ATW 230
Hoeganaes EH
IRMM524A_FLUKA
IRMM524B_FLUKA
IRON
Iron (Fe)
Iron (Fe1+)
Iron ion (Fe+)
Iron ion(1+)
Iron monocation
Iron powder
Iron standard for AAS
Iron(1+)
Iron(1+) ion
Iron(III) nitrate solution
Iron, carbonyl
Iron, electrolytic
Iron, elemental
Iron, ion (Fe1+)
Iron, ion (Fe1+) (8CI,9CI)
Iron, reduced
LOHA
LS-3196
MolPort-003-925-001
NC 100
PZh-1M3
PZh-2
PZh1M1
PZh2M
PZh2M1
PZh2M2
PZh3
PZh3M
PZh4M
PZhO
Reduced iron
Remko
SUY-B 2
Siderol
UNII-E1UOL152H7
Vitedyn-Slo
Yieronia
fer
ferrous iron
hierro

Interventional clinical trials:

idNameStatusNCT IDPhase
1Evaluation of the Efficacy in Decreasing Iron Absorption in Patients With Congenital Dyserythropoietic Anemia Type I by Treatment With LOSECNot yet recruitingNCT01795794Phase 4
2GDF 15 in Sickle Cell Disease and Hereditary SpherocytosisNot yet recruitingNCT01201135

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

Genetic Tests for Dyserythropoietic Anemia, Congenital, Type Ia

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

id Genetic test Affiliating Genes
1 Congenital Dyserythropoietic Anemia, Type I25
2 Congenital Dyserythropoietic Anemia Type I23 CDAN1

Anatomical Context for Dyserythropoietic Anemia, Congenital, Type Ia

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

34
Bone, Heart, Bone marrow, Liver, Skin, Spleen, Eye

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

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Publications for Dyserythropoietic Anemia, Congenital, Type Ia

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Variations for Dyserythropoietic Anemia, Congenital, Type Ia

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

68
id Symbol AA change Variation ID SNP ID
1CDAN1p.Asn599SerVAR_017218rs120074166
2CDAN1p.Pro672LeuVAR_017219rs120074167
3CDAN1p.Glu698LysVAR_017220
4CDAN1p.Arg714TrpVAR_017221rs80338696
5CDAN1p.Phe868IleVAR_017222rs120074168
6CDAN1p.Val869MetVAR_017223rs370895637
7CDAN1p.Arg1042TrpVAR_017224rs80338697
8CDAN1p.Asp1043ValVAR_017225rs80338698
9CDAN1p.Pro1130LeuVAR_017226rs80338699

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

5
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.2015C> T (p.P672L)single nucleotide variantPathogenicrs120074167GRCh37Chr 15, 43022955: 43022955
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

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

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

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

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

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Biological processes related to Dyserythropoietic Anemia, Congenital, Type Ia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1negative regulation of DNA replicationGO:00081569.0CDAN1, TSPYL2

Sources for Dyserythropoietic Anemia, Congenital, Type Ia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet