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: C0039070
Disease: Syncope
Syncope 		0.010 Biomarker phenotype BEFREE Two of three patients in cohort 1 had a DLT (grade 3 transaminitis and grade 3 syncope). 26149476 2015
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: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		0.010 GeneticVariation disease BEFREE Post-infancy, the patient developed acral dysmorphism and pectus excavatum the latter rarely found in CDA1. 24420417 2014
CUI: C0158731
Disease: Congenital pectus carinatum
Congenital pectus carinatum 		0.010 Biomarker disease BEFREE Congenital dyserythropoietic anemia type I presenting as persistent pulmonary hypertension with pigeon chest deformity. 24420417 2014
CUI: C1567426
Disease: Unilateral Multicystic Dysplastic Kidney
Unilateral Multicystic Dysplastic Kidney 		0.010 GeneticVariation disease BEFREE We describe dyserythropoiesis in the bone marrow of a child with transfusion dependent anemia and unilateral multicystic dysplastic kidney (MCDK) mimicking Congenital Dyserythropoietic Anemia type I (CDA type I). 24481986 2014
CUI: C2051831
Disease: Pectus excavatum
Pectus excavatum 		0.010 GeneticVariation disease BEFREE Post-infancy, the patient developed acral dysmorphism and pectus excavatum the latter rarely found in CDA1. 24420417 2014
CUI: C3666003
Disease: Transfusion dependent anaemia
Transfusion dependent anaemia 		0.010 GeneticVariation disease BEFREE We describe dyserythropoiesis in the bone marrow of a child with transfusion dependent anemia and unilateral multicystic dysplastic kidney (MCDK) mimicking Congenital Dyserythropoietic Anemia type I (CDA type I). 24481986 2014
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: 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: C0039075
Disease: Syndactyly
Syndactyly 		0.010 GeneticVariation disease BEFREE Here, the first Chinese family with the typical hematological phenotype, osseous syndactyly and with a compound heterozygous CDAN1-gene mutation is described. 18575862 2008
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: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		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: 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: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.010 GeneticVariation disease BEFREE Molecular studies have confirmed that it is a heterogeneous disorder and there may be evidence for an autosomal recessive mode of inheritance.1 The gene responsible for Noonan' syndrome has been mapped to the long arm of chromosome 12.2,3 The human deltex gene (DLT x 1), mapping to chromosomal region 12q24 in the vicinity of the Noonan's syndrome critical region is being evaluated as a candidate gene for this disorder.4 Various types of musculoskeletal abnormalities have been reported, including short stature, craniofacial dysmorphism, short or webbed neck and fetal pads in fingers and toes.5 We report five cases with the unusual physical features of overriding toes and simian creases. 12354273 2002
CUI: C0151491
Disease: Congenital musculoskeletal anomalies
Congenital musculoskeletal anomalies 		0.010 Biomarker group BEFREE Molecular studies have confirmed that it is a heterogeneous disorder and there may be evidence for an autosomal recessive mode of inheritance.1 The gene responsible for Noonan' syndrome has been mapped to the long arm of chromosome 12.2,3 The human deltex gene (DLT x 1), mapping to chromosomal region 12q24 in the vicinity of the Noonan's syndrome critical region is being evaluated as a candidate gene for this disorder.4 Various types of musculoskeletal abnormalities have been reported, including short stature, craniofacial dysmorphism, short or webbed neck and fetal pads in fingers and toes.5 We report five cases with the unusual physical features of overriding toes and simian creases. 12354273 2002
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: C0920299
Disease: Overriding toe
Overriding toe 		0.010 GeneticVariation disease BEFREE Molecular studies have confirmed that it is a heterogeneous disorder and there may be evidence for an autosomal recessive mode of inheritance.1 The gene responsible for Noonan' syndrome has been mapped to the long arm of chromosome 12.2,3 The human deltex gene (DLT x 1), mapping to chromosomal region 12q24 in the vicinity of the Noonan's syndrome critical region is being evaluated as a candidate gene for this disorder.4 Various types of musculoskeletal abnormalities have been reported, including short stature, craniofacial dysmorphism, short or webbed neck and fetal pads in fingers and toes.5 We report five cases with the unusual physical features of overriding toes and simian creases. 12354273 2002
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: C3161174
Disease: Hemoglobin H Disease
Hemoglobin H Disease 		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: 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: 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: C0038362
Disease: Stomatitis
Stomatitis 		0.020 Biomarker disease BEFREE One DLT (anorexia and stomatitis, respectively) occurred with each of regimens 2 and 3. 29995287 2019
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.020 AlteredExpression disease BEFREE The inflammatory activity of UC was assessed by Mayo score and of CD by CDAI and SES-CD scoring systems. 29550798 2017
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.020 Biomarker disease BEFREE Moreover, clinical FC activity (CFA) calculated as 0.8 × FC + 4.6 × CDAI showed higher area under the curve (AUC) of 0.962 for CICD and CFA calculated as 0.2 × FC + 50 × CAI showed higher AUC (0.980) for UC patients than the FC. 29290660 2017