CDAN1, codanin 1, 146059

N. diseases: 77; N. variants: 15
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia 		0.010 AlteredExpression disease BEFREE We report, for the first time, an unusual case of congenital anaemia with the clinical diagnosis of haemoglobin H disease complicated by morphological features at the light and electron microscopy level very similar to those of CDA-I. 12071943 2002
CUI: C0002881
Disease: Anemia, Hemolytic, Congenital
Anemia, Hemolytic, Congenital 		0.010 GeneticVariation disease BEFREE Congenital dyserythropoietic anemia type 1 with a novel mutation in the CDAN1 gene previously diagnosed as congenital hemolytic anemia. 23605369 2013
CUI: C0002886
Disease: Anemia, Macrocytic
Anemia, Macrocytic 		0.040 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
CUI: C0002886
Disease: Anemia, Macrocytic
Anemia, Macrocytic 		0.040 GeneticVariation disease BEFREE Congenital dyserythropoietic anemia type I (CDA1) can present in utero with hydrops fetalis, but more often it presents in childhood or adulthood with moderate macrocytic anemia, jaundice, and progressive iron-overload. 29599085 2018
CUI: C0002886
Disease: Anemia, Macrocytic
Anemia, Macrocytic 		0.040 Biomarker disease BEFREE Congenital dyserythropoietic anemia type I is a rare inherited bone marrow disorder characterised by macrocytic anemia with pathognomonic morphological ultrastructural features in erythroid precursors. 9255198 1997
CUI: C0002886
Disease: Anemia, Macrocytic
Anemia, Macrocytic 		0.040 GeneticVariation disease BEFREE Congenital dyserythropoietic anemia type I is an inherited autosomal recessive macrocytic anemia associated with ineffective erythropoiesis and the development of secondary hemochromatosis. 19336738 2009
CUI: C0002891
Disease: Anemia, Neonatal
Anemia, Neonatal 		0.010 Biomarker disease BEFREE Although rare, congenital dyserythropoietic anemia type I should be considered in the differential diagnosis of neonatal anemia. 9255198 1997
CUI: C0002982
Disease: Angioid Streaks
Angioid Streaks 		0.010 GeneticVariation disease LHGDN This second case of retinal angioid streaks reported in CDA I adds to the non-haematological features likely to be associated with this condition. 18081704 2008
CUI: C0002982
Disease: Angioid Streaks
Angioid Streaks 		0.010 GeneticVariation disease BEFREE Congenital dyserythropoietic anaemia, type I, in a Caucasian patient with retinal angioid streaks (homozygous Arg1042Trp mutation in codanin-1). 18081704 2008
CUI: C2698117
Disease: Anisocyte Measurement
Anisocyte Measurement 		0.100 Biomarker phenotype HPO
CUI: C0221278
Disease: Anisocytosis
Anisocytosis 		0.100 Biomarker phenotype HPO
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		0.010 AlteredExpression disease BEFREE We found female gender as well as a longer disease duration and activity (specified as CDAI or MTWAI, respectively) to be related to the appearance of arthritis/arthralgia, but also sacroiliitis/ankylosing spondylitis in IBD patients. 31039159 2019
CUI: C0003123
Disease: Anorexia
Anorexia 		0.010 Biomarker disease BEFREE One DLT (anorexia and stomatitis, respectively) occurred with each of regimens 2 and 3. 29995287 2019
CUI: C0003872
Disease: Arthritis, Psoriatic
Arthritis, Psoriatic 		0.010 Biomarker disease BEFREE Baseline ΔTSJ/ΔPEG reduced the likelihood of achieving DAS28<2.6, SDAI≤3.3, CDAI≤2.8, ACR/EULAR Boolean and DAPSA<4 remission after 3 and 6 months in RA (OR 0.95-0.97, p<0.001/OR 0.96-0.99, p≤0.01) and PsA (OR 0.91-0.94, p≤0.004/OR 0.89-0.99, p≤0.002), except for ΔPEG and 6-month DAS28 remission in PsA. 27707730 2017
CUI: C0403823
Disease: Asthenozoospermia
Asthenozoospermia 		0.010 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
CUI: C1275685
Disease: Avellino corneal dystrophy
Avellino corneal dystrophy 		0.010 GeneticVariation disease BEFREE 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
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.100 GeneticVariation disease GWASCAT Genome-wide association study identifies 30 loci associated with bipolar disorder. 31043756 2019
CUI: C0005956
Disease: Bone Marrow Diseases
Bone Marrow Diseases 		0.010 Biomarker group BEFREE Congenital dyserythropoietic anemia type I is a rare inherited bone marrow disorder characterised by macrocytic anemia with pathognomonic morphological ultrastructural features in erythroid precursors. 9255198 1997
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.010 Biomarker phenotype BEFREE Experiments showed incidence of arrhythmias was reduced in the DLT group (P<0.01). 27048409 2018
CUI: C0751633
Disease: Carotid Artery Plaque
Carotid Artery Plaque 		0.010 AlteredExpression disease BEFREE Fifty rheumatoid arthritis patients underwent noninvasive arterial health testing (brachial artery reactivity, aortic augmentation index [AIx], pulse wave velocity, carotid artery intima-media thickness, and carotid artery plaque presence) and assessment of clinical disease activity (tender or swollen joint counts, Clinical Disease Activity Index [CDAI], and Health Assessment Questionnaire II [HAQ-II]). 27988813 2017
CUI: C0343386
Disease: Clostridium difficile infection
Clostridium difficile infection 		0.010 AlteredExpression disease BEFREE Actoxumab (MAb against C. difficile toxin A; CDA1) plus bezlotoxumab (MAb against C. difficile toxin B; CDB1) in combination or bezlotoxumab alone appeared to be more effective in preventing rCDI compared to actoxumab alone. 31493500 2020
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 GeneticVariation group BEFREE This report highlights the importance of recognizing PPHN as a presenting symptom of CDA1 and expands the repertoire of the accompanying mutations and axial skeletal malformations. 24420417 2014
CUI: C0158995
Disease: Congenital anemia
Congenital anemia 		0.010 Biomarker disease BEFREE We report, for the first time, an unusual case of congenital anaemia with the clinical diagnosis of haemoglobin H disease complicated by morphological features at the light and electron microscopy level very similar to those of CDA-I. 12071943 2002
CUI: C0002876
Disease: Congenital dyserythropoietic anemia
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
CUI: C0002876
Disease: Congenital dyserythropoietic anemia
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