MCID: DYS156
MIFTS: 37

Dyserythropoietic Anemia, Congenital, Type Ia malady

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

Aliases & Classifications for Dyserythropoietic Anemia, Congenital, Type Ia

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Sources:
49OMIM, 11diseasecard, 21GeneReviews, 51Orphanet, 67UniProtKB/Swiss-Prot, 45NIH Rare Diseases, 47Novoseek, 22GeneTests, 24GTR, 65UMLS, 28ICD10 via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH
See all sources

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

Name: Dyserythropoietic Anemia, Congenital, Type Ia 49
Cda I 45 47 51 67
Congenital Dyserythropoietic Anemia Type I 21 51 67
Type I Congenital Dyserythropoietic Anemia 45 22 24
Congenital Dyserythropoietic Anemia Type 1 45 51
Anemia, Dyserythropoietic, Congenital Type 1 45
Anemia, Congenital Dyserythropoietic, Type I 11
Dyserythropoietic Anemia, Congenital Type 1 45
 
Congenital Dyserythropoietic Anemia Type Ia 67
Congenital Dyserythropoietic Anemia, Type I 65
Anemia, Congenital Dyserythropoietic, 1a 67
Cda Type I 51
Cda Type 1 51
Cda Ia 67
Cdan1a 67


Classifications:



Characteristics (Orphanet epidemiological data):

51
cda i:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Europe),<1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: adult


External Ids:

OMIM49 224120
Orphanet51 98869
ICD10 via Orphanet28 D64.4
UMLS via Orphanet66 C0271933
MedGen34 C0271933
MeSH36 D000742

Summaries for Dyserythropoietic Anemia, Congenital, Type Ia

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OMIM:49 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 cda i, is related to dyserythropoietic anemia, congenital, type iii and congenital dyserythropoietic anemia, 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 bone, heart and liver.

NIH Rare Diseases:45 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

UniProtKB/Swiss-Prot:67 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 cda1

Related Diseases for Dyserythropoietic Anemia, Congenital, Type Ia

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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:

(show all 38)
idRelated DiseaseScoreTop Affiliating Genes
1dyserythropoietic anemia, congenital, type iii29.8C15orf41, CDAN1, TSPYL2
2congenital dyserythropoietic anemia11.1
3hemochromatosis10.5
4pulmonary hypertension10.5
5hemochromatosis, type 410.4
6anemia, sideroblastic, pyridoxine-refractory, autosomal recessive10.4
7coronary heart disease 510.4
8trichohepatoenteric syndrome 210.4
9coronary heart disease 710.4
10hemochromatosis, type 310.4
11hemochromatosis, type 510.4
12coronary heart disease 610.4
13dyserythropoietic anemia, congenital, type ib10.4
14dyserythropoietic anemia, congenital, type ii10.4
15deficiency anemia10.4
16bone fracture10.4
17gas gangrene10.4
18hemolytic anemia10.4
19keratomalacia10.4
20iron deficiency anemia10.4
21pyridoxine deficiency anemia10.4
22renal infectious disease10.4
23autosomal genetic disease10.4
24autosomal recessive disease10.4
25b cell deficiency10.4
26congenital heart disease10.4
27congenital hemolytic anemia10.4
28nutritional deficiency disease10.4
29vitamin b12 deficiency10.4
30haemochromatosis type 410.4
31hemochromatosis type 210.4
32haemochromatosis type 210.4
33pigmentary cirrhosis10.4
34acrofacial dysostosis catania type10.4
35granulocytopenia10.4
36headache10.4
37myoepithelioma9.8C15orf41, CDAN1
38bronchus carcinoma in situ9.6C15orf41, CDAN1

Graphical network of the top 20 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 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

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Omeprazoleapproved, investigationalPhase 429973590-58-64594
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
Being Well Omeprazole
Belmazol
Bio-0888
C07324
CAS-73590-58-6
CCRIS 7099
CHEBI:519601
CHEBI:7772
CHEMBL1503
CID4594
CPD000058847
Care One Omeprazole
Ceprandal
D00455
DB00338
DB00736
DM-3458
Danlox
Demeprazol
Desec
Dg Health Omeprazole
Dizprazol
Dudencer
Elgam
Emeproton
Emilok
Epirazole
Equaline Omeprazole
Equate Omeprazole Delayed Release acid reducer
Erbolin
Esomeprazole
Esomperazole
Esopral
Exchange Select Omeprazole
Exter
Family Wellness Omeprazole
Formu Care Omeprazole
Fulton Street Market Omeprazole
Gasec
Gastrimut
Gastroloc
Gibancer
Good Neighbor Pharmacy Omeprazole
Good Sense Omeprazole
H 168-68
H 168/68
H-168/68
H168/68
HMS1528I05
HMS1569D07
HMS2052G17
HMS2090E16
HMS2090F11
HSDB 3575
Harmon Face Values Omeprazole
Health Mart Omeprazole
Healthy Accents Omeprazole
I06-0705
IDI1_032523
Indurgan
Inhibitron
Inhipump
Kirkland Signature Omeprazole
LS-7629
Leader Omeprazole
Lensor
Logastric
Lomac
Losec
Losec, Omesec, Prilosec, Zegerid, Omeprazole
Lucen
MLS000069373
MLS001076112
MLS001424148
Maybridge4_002645
Members Mark Omeprazole
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
Olex
Olexin
Olit
Omapren
Omebeta
Omebeta 20
Omed
Omegast
Omepradex
Omepral
Omeprazol
Omeprazol [INN-Spanish]
Omeprazole
Omeprazole (JAN/USP/INN)
Omeprazole Delayed Release
Omeprazole Delayed-release
Omeprazole Magnesium
Omeprazole Pellets
Omeprazole [USAN:INN:BAN:JAN]
Omeprazole delayed-release
Omeprazole magnesium
Omeprazole sodium
Omeprazolum
Omeprazolum [INN-Latin]
Omeprazon
Omeprazone
Omeprol
Omesec
Omesek
Omez
Omezol
Omezolan
Omid
Omisec
Omizac
Ompanyt
Ortanol
Osiren
Ozoken
Paprazol
Parizac
Pepticum
Pepticus
Peptilcer
Prazentol
Prazidec
Prazolit
Preferred Plus Omeprazole
Prestwick0_000493
Prestwick1_000493
Prestwick2_000493
Prestwick3_000493
Prestwick_808
Prilosec
Prilosec (TN)
Prilosec OTC
Procelac
Proclor
Prysma
Quality Choice Omeprazole
Ramezol
Regulacid
Result
S1389_Selleck
SAM001246900
SAN-15
SMR000058847
SPBio_002306
STK623746
Sanamidol
Secrepina
Shoprite Omeprazole
Simply Right Omeprazole
Smart Sense Omeprazole
Sunmark Omeprazole
TL8005099
Tedec Ulceral
Topcare Omeprazole
UNII-KG60484QX9
UPCMLD-DP075
UPCMLD-DP075:001
Ulceral
Ulcesep
Ulcometion
Ulcozol
Ulcsep
Ulsen
Ultop
Ulzol
Victrix
Zefxon
Zegerid
Zepral
Zimor
Zoltum
esomeprazol
omeprazole
2
IronapprovedPhase 49577439-89-623925
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
Dexiron
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
F 60 (metal)
FE
FT 3 (element)
Fe
Fe-40
Fe1+
Feraheme
Feronate
Ferretts
Ferrlecit
Ferro-Caps
Ferro-Time
Ferrousal
Ferrovac E
Ferrum
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
Infufer
Iron
Iron (Fe)
Iron (Fe1+)
Iron ion (Fe+)
Iron ion(1+)
Iron monocation
Iron standard for AAS
Iron(1+)
Iron(1+) ion
Iron(III) nitrate solution
Iron, elemental
Iron, ion (Fe1+)
Iron, ion (Fe1+) (8CI,9CI)
LOHA
LS-3196
MolPort-003-925-001
NC 100
PZh-1M3
PZh-2
PZh1M1
PZh2M
PZh2M1
PZh2M2
PZh3
PZh3M
PZh4M
PZhO
Remko
SUY-B 2
Siderol
UNII-E1UOL152H7
Venofer
Vitedyn-Slo
Yieronia
fer
ferrous ascorbate
ferrous fumarate
ferrous gluconate
ferrous glycine sulfate
ferrous iron
ferrous succinate
ferrous sulfate
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 I22 CDAN1
2 Congenital Dyserythropoietic Anemia, Type I24

Anatomical Context for Dyserythropoietic Anemia, Congenital, Type Ia

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

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

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:

67
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:

5 (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.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
11C15orf41NM_001130010.2(C15orf41): c.533T> A (p.Leu178Gln)single nucleotide variantPathogenicrs587777100GRCh37Chr 15, 36989580: 36989580
12C15orf41NM_001130010.2(C15orf41): c.281A> G (p.Tyr94Cys)single nucleotide variantPathogenicrs587777101GRCh37Chr 15, 36950041: 36950041

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:00081569.3CDAN1, TSPYL2

Sources for Dyserythropoietic Anemia, Congenital, Type Ia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet