CDAN4
MCID: ANM048
MIFTS: 27

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 57 73
Cdan4 57 59 75
Congenital Dyserythropoietic Anemia, Type Iv 29 6
Congenital Dyserythropoietic Anemia Type Iv 59 75
Cda Iv 59 75
Congenital Dyserythropoietic Anemia Due to Klf1 Mutation 59
Anemia, Dyserythropoietic, Congenital, Type Iv 40
Dyserythropoietic Anemia, Congenital, Type Iv 57
Anemia, Dyserythropoietic Congenital, Type Iv 13
Congenital Dyserythropoietic Anemia Type 4 59
Anemia, Congenital Dyserythropoietic, 4 75
Cda Due to Klf1 Mutation 59
Cda, Type Iv 57
Cda Type Iv 59
Cda Type 4 59

Characteristics:

Orphanet epidemiological data:

59
congenital dyserythropoietic anemia type iv
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
anemia, congenital dyserythropoietic, type iv:
Onset and clinical course congenital onset
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 613673
Orphanet 59 ORPHA293825
ICD10 via Orphanet 34 D64.4
MedGen 42 C3150926
MeSH 44 D000742
UMLS 73 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)

MalaCards based summary : Anemia, Congenital Dyserythropoietic, Type Iv, also known as cdan4, is related to congenital dyserythropoietic 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 splenomegaly and hepatomegaly

UniProtKB/Swiss-Prot : 75 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

Symptoms & Phenotypes for Anemia, Congenital Dyserythropoietic, Type Iv

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 splenomegaly 32 HP:0001744
2 hepatomegaly 32 HP:0002240
3 short stature 32 HP:0004322
4 hypertrophic cardiomyopathy 32 occasional (7.5%) HP:0001639
5 hydrops fetalis 32 HP:0001789
6 reticulocytosis 32 HP:0001923
7 hyperbilirubinemia 32 HP:0002904
8 anemia of inadequate production 32 HP:0010972
9 erythroid hyperplasia 32 HP:0012132

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:

41
Bone, Bone Marrow, Liver

Publications for Anemia, Congenital Dyserythropoietic, Type Iv

Articles related to Anemia, Congenital Dyserythropoietic, Type Iv:

# Title Authors Year
1
A case of congenital dyserythropoietic anemia type IV. ( 28265383 )
2017
2
KLF1 E325K-associated Congenital Dyserythropoietic Anemia Type IV: Insights Into the Variable Clinical Severity. ( 29300242 )
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

Variations for Anemia, Congenital Dyserythropoietic, Type Iv

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

75
# 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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69 SNOMED-CT via HPO
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74 UMLS via Orphanet
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