CDAN4
MCID: ANM048
MIFTS: 28

Anemia, Congenital Dyserythropoietic, Type Iv (CDAN4)

Categories: Blood diseases, Bone diseases, Fetal diseases, Genetic diseases, Immune diseases, Liver 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 58 74
Cdan4 58 60 76
Congenital Dyserythropoietic Anemia, Type Iv 30 6
Congenital Dyserythropoietic Anemia Type Iv 60 76
Cda Iv 60 76
Congenital Dyserythropoietic Anemia Due to Klf1 Mutation 60
Anemia, Dyserythropoietic, Congenital, Type Iv 41
Dyserythropoietic Anemia, Congenital, Type Iv 58
Anemia, Dyserythropoietic Congenital, Type Iv 13
Congenital Dyserythropoietic Anemia Type 4 60
Anemia, Congenital Dyserythropoietic, 4 76
Cda Due to Klf1 Mutation 60
Cda, Type Iv 58
Cda Type Iv 60
Cda Type 4 60

Characteristics:

Orphanet epidemiological data:

60
congenital dyserythropoietic anemia type iv
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
anemia, congenital dyserythropoietic, type iv:
Onset and clinical course congenital onset
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 613673
MeSH 45 D000742
ICD10 via Orphanet 35 D64.4
Orphanet 60 ORPHA293825
MedGen 43 C3150926
UMLS 74 C3150926

Summaries for Anemia, Congenital Dyserythropoietic, Type Iv

OMIM : 58 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)

MalaCards based summary : Anemia, Congenital Dyserythropoietic, Type Iv, also known as cdan4, is related to congenital dyserythropoietic anemia and deficiency anemia. An important gene associated with Anemia, Congenital Dyserythropoietic, Type Iv is KLF1 (Kruppel Like Factor 1). Affiliated tissues include bone, bone marrow and liver, and related phenotypes are hypertrophic cardiomyopathy and splenomegaly

UniProtKB/Swiss-Prot : 76 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:

# Related Disease Score Top Affiliating Genes
1 congenital dyserythropoietic anemia 10.4
2 deficiency anemia 10.3

Symptoms & Phenotypes for Anemia, Congenital Dyserythropoietic, Type Iv

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

33 (show all 9)
# Description HPO Frequency HPO Source Accession
1 hypertrophic cardiomyopathy 33 occasional (7.5%) HP:0001639
2 splenomegaly 33 HP:0001744
3 hepatomegaly 33 HP:0002240
4 short stature 33 HP:0004322
5 hydrops fetalis 33 HP:0001789
6 reticulocytosis 33 HP:0001923
7 hyperbilirubinemia 33 HP:0002904
8 anemia of inadequate production 33 HP:0010972
9 erythroid hyperplasia 33 HP:0012132

Symptoms via clinical synopsis from OMIM:

58
Abdomen Spleen:
splenomegaly

Growth Height:
short stature

Prenatal Manifestations Amniotic Fluid:
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

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 30 KLF1

Anatomical Context for Anemia, Congenital Dyserythropoietic, Type Iv

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

42
Bone, Bone Marrow, Liver

Publications for Anemia, Congenital Dyserythropoietic, Type Iv

Articles related to Anemia, Congenital Dyserythropoietic, Type Iv:

# Title Authors Year
1
KLF1 E325K-associated Congenital Dyserythropoietic Anemia Type IV: Insights Into the Variable Clinical Severity. ( 29300242 )
2018
2
A case of congenital dyserythropoietic anemia type IV. ( 28265383 )
2017
3
Erythroid transcription factor EKLF/KLF1 mutation causing congenital dyserythropoietic anemia type IV in a patient of Taiwanese origin: review of all reported cases and development of a clinical diagnostic paradigm. ( 23522491 )
2013
4
Molecular analysis of the rare in(Lu) blood type: toward decoding the phenotypic outcome of haploinsufficiency for the transcription factor KLF1. ( 23125034 )
2013
5
A dominant mutation in the gene encoding the erythroid transcription factor KLF1 causes a congenital dyserythropoietic anemia. ( 21055716 )
2010
6
Congenital dyserythropoietic anaemia with novel intra-erythroblastic and intra-erythrocytic inclusions. ( 1659863 )
1991

Variations for Anemia, Congenital Dyserythropoietic, Type Iv

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

76
# Symbol AA change Variation ID SNP ID
1 KLF1 p.Glu325Lys VAR_064901 rs267607201

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 KLF1 NM_006563.4(KLF1): c.973G> A (p.Glu325Lys) single nucleotide variant Pathogenic rs267607201 GRCh37 Chromosome 19, 12995815: 12995815
2 KLF1 NM_006563.4(KLF1): c.973G> A (p.Glu325Lys) single nucleotide variant Pathogenic rs267607201 GRCh38 Chromosome 19, 12885001: 12885001
3 KLF1 NM_006563.4(KLF1): c.892G> C (p.Ala298Pro) single nucleotide variant Pathogenic rs387907598 GRCh37 Chromosome 19, 12996152: 12996152
4 KLF1 NM_006563.4(KLF1): c.892G> C (p.Ala298Pro) single nucleotide variant Pathogenic rs387907598 GRCh38 Chromosome 19, 12885338: 12885338
5 KLF1 NM_006563.4(KLF1): c.1012C> T (p.Pro338Ser) single nucleotide variant Pathogenic rs387907599 GRCh37 Chromosome 19, 12995776: 12995776
6 KLF1 NM_006563.4(KLF1): c.1012C> T (p.Pro338Ser) single nucleotide variant Pathogenic rs387907599 GRCh38 Chromosome 19, 12884962: 12884962

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

GO Terms for Anemia, Congenital Dyserythropoietic, Type Iv

Sources for Anemia, Congenital Dyserythropoietic, Type Iv

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