CDAN4
MCID: ANM048
MIFTS: 38

Anemia, Congenital Dyserythropoietic, Type Iv (CDAN4)

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

Aliases & Classifications for Anemia, Congenital Dyserythropoietic, Type Iv

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

Name: Anemia, Congenital Dyserythropoietic, Type Iv 57 70
Congenital Dyserythropoietic Anemia Type Iv 12 58 72 15
Cdan4 57 12 58 72
Cda Iv 12 58 72
Congenital Dyserythropoietic Anemia Due to Klf1 Mutation 12 58
Congenital Dyserythropoietic Anemia, Type Iv 29 6
Congenital Dyserythropoietic Anemia Type 4 12 58
Cda Due to Klf1 Mutation 12 58
Cda Type Iv 12 58
Cda Type 4 12 58
Congenital Dyserythropoietic Anaemia Due to Klf1 Mutation 12
Anemia, Dyserythropoietic, Congenital, Type Iv 39
Dyserythropoietic Anemia, Congenital, Type Iv 57
Anemia, Dyserythropoietic Congenital, Type Iv 13
Congenital Dyserythropoietic Anaemia Type Iv 12
Congenital Dyserythropoietic Anaemia Type 4 12
Anemia, Congenital Dyserythropoietic, 4 72
Cda, Type Iv 57

Characteristics:

Orphanet epidemiological data:

58
congenital dyserythropoietic anemia type iv
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation
onset in utero
two unrelated patients have been reported (last curated december 2010)


HPO:

31
anemia, congenital dyserythropoietic, type iv:
Inheritance autosomal dominant inheritance
Onset and clinical course congenital onset


Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:0111400
OMIM® 57 613673
OMIM Phenotypic Series 57 PS224120
MeSH 44 D000742
NCIt 50 C157148
SNOMED-CT 67 719453009
ICD10 via Orphanet 33 D64.4
Orphanet 58 ORPHA293825
MedGen 41 C3150926
UMLS 70 C3150926

Summaries for Anemia, Congenital Dyserythropoietic, Type Iv

OMIM® : 57 Congenital dyserythropoietic anemia type IV is an autosomal dominant inherited red blood cell disorder characterized by ineffective erythropoiesis and hemolysis resulting in anemia. Circulating erythroblasts and erythroblasts in the bone marrow show various morphologic abnormalities. Affected individuals with CDAN4 also have increased levels of fetal hemoglobin (summary by Arnaud et al., 2010). For a discussion of genetic heterogeneity of congenital dyserythropoietic anemia, see CDAN1 (224120). (613673) (Updated 20-May-2021)

MalaCards based summary : Anemia, Congenital Dyserythropoietic, Type Iv, also known as congenital dyserythropoietic anemia type iv, is related to deficiency anemia and hemoglobinopathy. An important gene associated with Anemia, Congenital Dyserythropoietic, Type Iv is KLF1 (Kruppel Like Factor 1), and among its related pathways/superpathways is Hematopoietic Stem Cell Differentiation. Affiliated tissues include bone marrow and bone, and related phenotypes are hypertrophic cardiomyopathy and splenomegaly

Disease Ontology : 12 A congenital dyserythropoietic anemia characterized by ineffective erythropoiesis and hemolysis resulting in anemia and abnormal erythroblast morphology that has material basis in heterozygous mutation in KLF1 on chromosome 19p13.13.

UniProtKB/Swiss-Prot : 72 Anemia, congenital dyserythropoietic, 4: A blood disorder characterized by ineffective erythropoiesis and hemolysis resulting in anemia. Circulating erythroblasts and erythroblasts in the bone marrow show various morphologic abnormalities. Affected individuals with CDA4 also have increased levels of fetal hemoglobin.

Related Diseases for Anemia, Congenital Dyserythropoietic, Type Iv

Diseases in the Congenital Dyserythropoietic Anemia family:

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

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

(show all 27)
# Related Disease Score Top Affiliating Genes
1 deficiency anemia 30.2 KLF1 GATA1 CDAN1 AHSP
2 hemoglobinopathy 30.1 KLF1 GATA1 AHSP
3 congenital dyserythropoietic anemia 29.6 SEC23B KLF1 KIF23 GATA1 CDIN1 CDAN1
4 fetal hemoglobin quantitative trait locus 6 10.3 LOC117125591 KLF1
5 acute erythroid leukemia 10.2 KLF1 GATA1
6 thalassemia minor 10.2 KLF1 GATA1
7 thrombocytopenia with beta-thalassemia, x-linked 10.2 KLF1 GATA1
8 neonatal anemia 10.2 ZNF274 KLF1
9 hydrops fetalis, nonimmune 10.2
10 lymphatic malformation 7 10.2
11 hemosiderosis 10.2
12 hemolytic anemia 10.2
13 splenomegaly 10.2
14 rare hereditary hemochromatosis 10.2
15 cutaneous porphyria 10.2 KLF1 GATA1
16 spherocytosis, type 2 10.1 KLF1 GATA1
17 spherocytosis, type 4 10.1 KLF1 GATA1
18 spherocytosis, type 3 10.0 KLF1 GATA1
19 acrodysostosis 9.9 CDIN1 CDAN1
20 beta-thalassemia 9.9 KLF1 GATA1 AHSP
21 alpha-thalassemia 9.8 KLF1 GATA1 AHSP
22 anemia, congenital dyserythropoietic, type ii 9.8 SEC23B KLF1 KIF23 CDIN1 CDAN1
23 congenital hemolytic anemia 9.8 SEC23B KLF1 GATA1 CDIN1 CDAN1
24 hereditary spherocytosis 9.5 SEC23B KLF1 GATA1 DMTN AQP1
25 anemia, congenital dyserythropoietic, type iii 9.4 SEC23B MRPL46 KLF1 KIF23 GATA1 CDIN1
26 anemia, congenital dyserythropoietic, type ia 9.4 SEC23B MRPL46 KLF1 KIF23 GATA1 CDIN1
27 anemia, congenital dyserythropoietic, type ib 9.3 SEC23B KLF1 KIF23 GATA1 CDIN1 CDAN1

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



Diseases related to Anemia, Congenital Dyserythropoietic, Type Iv

Symptoms & Phenotypes for Anemia, Congenital Dyserythropoietic, Type Iv

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

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 hypertrophic cardiomyopathy 31 occasional (7.5%) HP:0001639
2 splenomegaly 31 HP:0001744
3 hepatomegaly 31 HP:0002240
4 short stature 31 HP:0004322
5 hydrops fetalis 31 HP:0001789
6 reticulocytosis 31 HP:0001923
7 hyperbilirubinemia 31 HP:0002904
8 anemia of inadequate production 31 HP:0010972
9 erythroid hyperplasia 31 HP:0012132

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Abdomen Spleen:
splenomegaly

Growth Height:
short stature

Prenatal Manifestations:
hydrops fetalis

Cardiovascular Heart:
hypertrophic cardiomyopathy (1 patient)

Abdomen Liver:
hepatomegaly

Hematology:
anemia
ineffective erythropoiesis
increased reticulocyte count
increased fetal hemoglobin
nucleated peripheral red cells
more
Laboratory Abnormalities:
hyperbilirubinemia

Clinical features from OMIM®:

613673 (Updated 20-May-2021)

Drugs & Therapeutics for Anemia, Congenital Dyserythropoietic, Type Iv

Search Clinical Trials , NIH Clinical Center for Anemia, Congenital Dyserythropoietic, Type Iv

Genetic Tests for Anemia, Congenital Dyserythropoietic, Type Iv

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

# Genetic test Affiliating Genes
1 Congenital Dyserythropoietic Anemia, Type Iv 29 KLF1

Anatomical Context for Anemia, Congenital Dyserythropoietic, Type Iv

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

40
Bone Marrow, Bone

Publications for Anemia, Congenital Dyserythropoietic, Type Iv

Articles related to Anemia, Congenital Dyserythropoietic, Type Iv:

# Title Authors PMID Year
1
A dominant mutation in the gene encoding the erythroid transcription factor KLF1 causes a congenital dyserythropoietic anemia. 6 57
21055716 2010
2
Congenital dyserythropoietic anaemia with novel intra-erythroblastic and intra-erythrocytic inclusions. 57 6
1659863 1991
3
Molecular analysis of the rare in(Lu) blood type: toward decoding the phenotypic outcome of haploinsufficiency for the transcription factor KLF1. 6
23125034 2013
4
Human red cell Aquaporin CHIP. II. Expression during normal fetal development and in a novel form of congenital dyserythropoietic anemia. 57
7521883 1994
5
A novel form of congenital dyserythropoietic anemia associated with deficiency of erythroid CD44 and a unique blood group phenotype [In(a-b-), Co(a-b-)]. 57
7507739 1994
6
Expression of embryonic zeta-globin and epsilon-globin chains in a 10-year-old girl with congenital anemia. 57
7680924 1993
7
Krüppel-like factor 1: hematologic phenotypes associated with KLF1 gene mutations. 61
25976964 2015

Variations for Anemia, Congenital Dyserythropoietic, Type Iv

ClinVar genetic disease variations for Anemia, Congenital Dyserythropoietic, Type Iv:

6 (show all 37)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KLF1 NM_006563.4(KLF1):c.973G>A (p.Glu325Lys) SNV Pathogenic 18447 rs267607201 GRCh37: 19:12995815-12995815
GRCh38: 19:12885001-12885001
2 LOC117125591 , KLF1 NM_006563.4(KLF1):c.892G>C (p.Ala298Pro) SNV Pathogenic 56891 rs387907598 GRCh37: 19:12996152-12996152
GRCh38: 19:12885338-12885338
3 KLF1 NM_006563.4(KLF1):c.1012C>T (p.Pro338Ser) SNV Pathogenic 56892 rs387907599 GRCh37: 19:12995776-12995776
GRCh38: 19:12884962-12884962
4 KLF1 NM_006563.5(KLF1):c.676G>A (p.Ala226Thr) SNV Uncertain significance 891357 GRCh37: 19:12996368-12996368
GRCh38: 19:12885554-12885554
5 KLF1 NM_006563.5(KLF1):c.409C>T (p.Arg137Cys) SNV Uncertain significance 892551 GRCh37: 19:12996635-12996635
GRCh38: 19:12885821-12885821
6 KLF1 NM_006563.4(KLF1):c.690C>T (p.Ala230=) SNV Uncertain significance 328313 rs775669419 GRCh37: 19:12996354-12996354
GRCh38: 19:12885540-12885540
7 KLF1 NM_006563.4(KLF1):c.*367C>G SNV Uncertain significance 328304 rs375799978 GRCh37: 19:12995332-12995332
GRCh38: 19:12884518-12884518
8 KLF1 NM_006563.5(KLF1):c.*312G>C SNV Uncertain significance 889116 GRCh37: 19:12995387-12995387
GRCh38: 19:12884573-12884573
9 KLF1 NM_006563.5(KLF1):c.*2C>T SNV Uncertain significance 889805 GRCh37: 19:12995697-12995697
GRCh38: 19:12884883-12884883
10 KLF1 NM_006563.5(KLF1):c.1036C>T (p.Arg346Cys) SNV Uncertain significance 891353 GRCh37: 19:12995752-12995752
GRCh38: 19:12884938-12884938
11 KLF1 NM_006563.5(KLF1):c.1016T>C (p.Phe339Ser) SNV Uncertain significance 891354 GRCh37: 19:12995772-12995772
GRCh38: 19:12884958-12884958
12 KLF1 NM_006563.4(KLF1):c.*263C>T SNV Uncertain significance 328309 rs867980189 GRCh37: 19:12995436-12995436
GRCh38: 19:12884622-12884622
13 KLF1 NM_006563.4(KLF1):c.606G>A (p.Gly202=) SNV Uncertain significance 328315 rs886054236 GRCh37: 19:12996438-12996438
GRCh38: 19:12885624-12885624
14 KLF1 NM_006563.4(KLF1):c.478G>A (p.Glu160Lys) SNV Uncertain significance 328318 rs772655521 GRCh37: 19:12996566-12996566
GRCh38: 19:12885752-12885752
15 KLF1 NM_006563.4(KLF1):c.255G>A (p.Pro85=) SNV Uncertain significance 328324 rs886054238 GRCh37: 19:12996789-12996789
GRCh38: 19:12885975-12885975
16 KLF1 NM_006563.4(KLF1):c.*311A>G SNV Uncertain significance 328305 rs767532783 GRCh37: 19:12995388-12995388
GRCh38: 19:12884574-12884574
17 KLF1 NM_006563.4(KLF1):c.353G>A (p.Gly118Asp) SNV Uncertain significance 328319 rs886054237 GRCh37: 19:12996691-12996691
GRCh38: 19:12885877-12885877
18 KLF1 NM_006563.4(KLF1):c.259C>G (p.Pro87Ala) SNV Likely benign 328323 rs752204035 GRCh37: 19:12996785-12996785
GRCh38: 19:12885971-12885971
19 LOC117125592 , KLF1 NM_006563.5(KLF1):c.-43G>A SNV Likely benign 889191 GRCh37: 19:12997997-12997997
GRCh38: 19:12887183-12887183
20 KLF1 NM_006563.4(KLF1):c.544T>C (p.Phe182Leu) SNV Benign 328316 rs2072596 GRCh37: 19:12996500-12996500
GRCh38: 19:12885686-12885686
21 LOC117125591 , KLF1 NM_006563.5(KLF1):c.803G>T (p.Arg268Leu) SNV Benign 891355 GRCh37: 19:12996241-12996241
GRCh38: 19:12885427-12885427
22 LOC117125591 , KLF1 NM_006563.5(KLF1):c.757G>A (p.Glu253Lys) SNV Benign 891356 GRCh37: 19:12996287-12996287
GRCh38: 19:12885473-12885473
23 KLF1 NM_006563.5(KLF1):c.541T>A (p.Tyr181Asn) SNV Benign 892550 GRCh37: 19:12996503-12996503
GRCh38: 19:12885689-12885689
24 KLF1 NM_006563.5(KLF1):c.304T>C (p.Ser102Pro) SNV Benign 260001 rs2072597 GRCh37: 19:12996740-12996740
GRCh38: 19:12885926-12885926
25 KLF1 NM_006563.4(KLF1):c.*291A>G SNV Benign 328307 rs531279487 GRCh37: 19:12995408-12995408
GRCh38: 19:12884594-12884594
26 KLF1 NM_006563.4(KLF1):c.*22T>A SNV Benign 328312 rs149022596 GRCh37: 19:12995677-12995677
GRCh38: 19:12884863-12884863
27 KLF1 NM_006563.4(KLF1):c.311C>T (p.Ala104Val) SNV Benign 328321 rs182276666 GRCh37: 19:12996733-12996733
GRCh38: 19:12885919-12885919
28 KLF1 NM_006563.4(KLF1):c.*254C>T SNV Benign 328310 rs564687827 GRCh37: 19:12995445-12995445
GRCh38: 19:12884631-12884631
29 KLF1 NM_006563.4(KLF1):c.*185G>A SNV Benign 328311 rs137908457 GRCh37: 19:12995514-12995514
GRCh38: 19:12884700-12884700
30 KLF1 NM_006563.4(KLF1):c.*277C>T SNV Benign 328308 rs16978757 GRCh37: 19:12995422-12995422
GRCh38: 19:12884608-12884608
31 KLF1 NM_006563.4(KLF1):c.629C>G (p.Pro210Arg) SNV Benign 328314 rs530729436 GRCh37: 19:12996415-12996415
GRCh38: 19:12885601-12885601
32 KLF1 NM_006563.4(KLF1):c.325C>T (p.Pro109Ser) SNV Benign 328320 rs117351327 GRCh37: 19:12996719-12996719
GRCh38: 19:12885905-12885905
33 KLF1 NM_006563.4(KLF1):c.520G>T (p.Gly174Cys) SNV Benign 328317 rs566095433 GRCh37: 19:12996524-12996524
GRCh38: 19:12885710-12885710
34 KLF1 NM_006563.4(KLF1):c.286C>T (p.Leu96=) SNV Benign 328322 rs748056490 GRCh37: 19:12996758-12996758
GRCh38: 19:12885944-12885944
35 LOC117125592 , KLF1 NM_006563.4(KLF1):c.115A>C (p.Met39Leu) SNV Benign 328325 rs112631212 GRCh37: 19:12996929-12996929
GRCh38: 19:12886115-12886115
36 KLF1 NM_006563.4(KLF1):c.*454C>G SNV Benign 328303 rs538356283 GRCh37: 19:12995245-12995245
GRCh38: 19:12884431-12884431
37 KLF1 NM_006563.4(KLF1):c.*296G>A SNV Benign 328306 rs16978754 GRCh37: 19:12995403-12995403
GRCh38: 19:12884589-12884589

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

72
# Symbol AA change Variation ID SNP ID
1 KLF1 p.Glu325Lys VAR_064901 rs267607201

Expression for Anemia, Congenital Dyserythropoietic, Type Iv

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

Pathways for Anemia, Congenital Dyserythropoietic, Type Iv

Pathways related to Anemia, Congenital Dyserythropoietic, Type Iv according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.3 KLF1 GATA1

GO Terms for Anemia, Congenital Dyserythropoietic, Type Iv

Cellular components related to Anemia, Congenital Dyserythropoietic, Type Iv according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endomembrane system GO:0012505 8.8 SEC23B DMTN CDAN1

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

# Name GO ID Score Top Affiliating Genes
1 erythrocyte development GO:0048821 8.96 GATA1 DMTN
2 erythrocyte differentiation GO:0030218 8.92 KLF1 GATA1 CDIN1 AHSP

Sources for Anemia, Congenital Dyserythropoietic, Type Iv

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....