|
Congenital dyserythropoietic anemia, type I
|
0.780 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1.
|
12434312 |
2002 |
|
Congenital dyserythropoietic anemia, type I
|
0.780 |
GeneticVariation
|
disease |
BEFREE |
Mutations in Codanin-1 can cause congenital dyserythropoietic anaemia type I (CDAI), characterized by chromatin abnormalities in bone marrow erythroblasts.
|
22407294 |
2012 |
|
Congenital dyserythropoietic anemia, type I
|
0.780 |
GeneticVariation
|
disease |
BEFREE |
Codanin-1 mutations in congenital dyserythropoietic anemia type 1 affect HP1{alpha} localization in erythroblasts.
|
21364188 |
2011 |
|
Congenital dyserythropoietic anemia, type I
|
0.780 |
AlteredExpression
|
disease |
BEFREE |
The mutated gene (CDAN1) encodes a ubiquitously expressed protein of unknown function, codanin-1.
|
19336738 |
2009 |
|
Congenital dyserythropoietic anemia, type I
|
0.780 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Congenital dyserythropoietic anemia, type I
|
0.780 |
GeneticVariation
|
disease |
CLINVAR |
Congenital dyserythropoietic anemia in a Chinese family with a mutation of the CDAN1-gene.
|
18575862 |
2008 |
|
Congenital dyserythropoietic anemia, type I
|
0.780 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
This case report documents a severe fetal presentation of CDA1 where we identified two novel compound heterozygous mutations in CDAN1 and describes the associated pathologic findings and levels of iron-regulatory proteins hepcidin, erythroferrone, and GDF15.
|
29599085 |
2018 |
|
Congenital dyserythropoietic anemia, type I
|
0.780 |
Biomarker
|
disease |
BEFREE |
To analyze the relative frequency of both light microscopic (LM) and electron microscopic (EM) morphological features of erythroblasts in a large group of patients with molecular proven congenital dyserythropoietic anemia type I (CDAI).
|
28755517 |
2017 |
|
Congenital dyserythropoietic anemia, type I
|
0.780 |
GeneticVariation
|
disease |
UNIPROT |
Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1.
|
12434312 |
2002 |
|
Congenital dyserythropoietic anemia, type I
|
0.780 |
GeneticVariation
|
disease |
BEFREE |
This case report documents a severe fetal presentation of CDA1 where we identified two novel compound heterozygous mutations in CDAN1 and describes the associated pathologic findings and levels of iron-regulatory proteins hepcidin, erythroferrone, and GDF15.
|
29599085 |
2018 |
|
Congenital dyserythropoietic anemia, type I
|
0.780 |
Biomarker
|
disease |
BEFREE |
In the course of positional cloning of the Congenital Dyserythropoietic Anemia type I (CDAI) [MIM 224120] gene on 15q15.1-15.3, we examined a family of French origin, in which the propositus suffered from asthenoteratozoospermia and nonsyndromic deafness in addition to CDAI.
|
12825070 |
2003 |
|
Congenital dyserythropoietic anemia, type I
|
0.780 |
GeneticVariation
|
disease |
CLINVAR |
Clinical and genetic features of congenital dyserythropoietic anemia (CDA).
|
29901818 |
2018 |
|
Congenital dyserythropoietic anemia, type I
|
0.780 |
GeneticVariation
|
disease |
CLINVAR |
Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1.
|
12434312 |
2002 |
|
Congenital dyserythropoietic anemia, type I
|
0.780 |
GeneticVariation
|
disease |
CLINVAR |
Linkage and mutational analysis of the CDAN1 gene reveals genetic heterogeneity in congenital dyserythropoietic anemia type I.
|
16754775 |
2006 |
|
Congenital dyserythropoietic anemia, type I
|
0.780 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Congenital dyserythropoietic anemia, type I
|
0.780 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Congenital dyserythropoietic anemia, type I
|
0.780 |
GeneticVariation
|
disease |
CLINVAR |
Codanin-1, mutated in the anaemic disease CDAI, regulates Asf1 function in S-phase histone supply.
|
22407294 |
2012 |
|
Congenital dyserythropoietic anemia, type I
|
0.780 |
GermlineCausalMutation
|
disease |
ORPHANET |
|
|
|
|
Congenital dyserythropoietic anemia, type I
|
0.780 |
Biomarker
|
disease |
BEFREE |
Congenital dyserythropoietic anemia type I (CDAI) is a rare autosomal recessive disease characterized by macrocytic anemia, ineffective erythropoiesis, and secondary hemochromatosis.
|
27206021 |
2017 |
|
Congenital dyserythropoietic anemia, type I
|
0.780 |
GeneticVariation
|
disease |
CLINVAR |
Congenital dyserythropoietic anemia type I (CDA I): molecular genetics, clinical appearance, and prognosis based on long-term observation.
|
16141353 |
2006 |
|
Congenital dyserythropoietic anemia, type I
|
0.780 |
GeneticVariation
|
disease |
BEFREE |
Congenital dyserythropoietic anemia type 1 with a novel mutation in the CDAN1 gene previously diagnosed as congenital hemolytic anemia.
|
23605369 |
2013 |
|
Congenital dyserythropoietic anemia
|
0.390 |
GeneticVariation
|
disease |
BEFREE |
The unveiling of the genes mutated in the major CDA subgroups (I-CDAN1 and II-SEC23B) has now been completed with the recent identification of the CDA III gene (KIF23).
|
23940284 |
2013 |
|
Congenital dyserythropoietic anemia
|
0.390 |
Biomarker
|
disease |
BEFREE |
We suggest that similar to congenital dyserythropoietic anemia type I, distal anomalies may appear in some patients with congenital dyserythropoietic anemia types II and III.
|
27759939 |
2017 |
|
Congenital dyserythropoietic anemia
|
0.390 |
GeneticVariation
|
disease |
LHGDN |
CDA type I (CDAI [MIM 224120], gene symbol CDAN1) is characterized by erythroid pathological features such as internuclear chromatin bridges, spongy heterochromatin, and invagination of the nuclear membrane, carrying cytoplasmic organelles into the nucleus.
|
12434312 |
2002 |
|
Congenital dyserythropoietic anemia
|
0.390 |
GeneticVariation
|
disease |
BEFREE |
Sequence analysis of CDA-related genes revealed that the proband with CDA Ι in the first family was a compound heterozygote of CDAN1 with mutation IVS-12+2T>C and c. 3389C>T, while both probands with CDA ΙΙ in the second family were a homozygote of the SEC23B gene with mutation c.938G>A (R313H).
|
24196372 |
2014 |