CDAN1A
MCID: ANM043
MIFTS: 52

Anemia, Congenital Dyserythropoietic, Type Ia (CDAN1A)

Categories: Blood diseases, Bone diseases, Genetic diseases, Immune diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Anemia, Congenital Dyserythropoietic, Type Ia

MalaCards integrated aliases for Anemia, Congenital Dyserythropoietic, Type Ia:

Name: Anemia, Congenital Dyserythropoietic, Type Ia 57
Congenital Dyserythropoietic Anemia Type I 12 25 58 72 15
Cda I 12 20 58 72 54
Congenital Dyserythropoietic Anemia Type Ia 12 72 15
Congenital Dyserythropoietic Anemia, Type I 29 6 70
Congenital Dyserythropoietic Anemia Type 1 12 20 58
Cdan1a 57 12 72
Cda Ia 57 12 72
Anemia, Congenital Dyserythropoietic, Type I 57 13
Dyserythropoietic Anemia, Congenital Type 1 73 20
Cda Type 1 12 58
Cda Type I 12 58
Anemia, Dyserythropoietic, Congenital, Type Ia 39
Dyserythropoietic Anemia, Congenital, Type Ia 57
Anemia, Congenital Dyserythropoietic, Type 1a 6
Anemia, Dyserythropoietic, Congenital Type 1 20
Congenital Dyserythropoietic Anaemia Type 1 12
Congenital Dyserythropoietic Anaemia Type I 12
Type I Congenital Dyserythropoietic Anemia 20
Anemia, Congenital Dyserythropoietic, 1a 72

Characteristics:

Orphanet epidemiological data:

58
congenital dyserythropoietic anemia type i
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Europe),<1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: adult;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
variable age at diagnosis
anemia may show favorable response to alpha-interferon treatment


HPO:

31
anemia, congenital dyserythropoietic, type ia:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:0111396 DOID:0111398
OMIM® 57 224120
OMIM Phenotypic Series 57 PS224120
MeSH 44 D000742
ICD10 via Orphanet 33 D64.4
UMLS via Orphanet 71 C0271933
Orphanet 58 ORPHA98869
MedGen 41 C0271933
UMLS 70 C0271933

Summaries for Anemia, Congenital Dyserythropoietic, Type Ia

OMIM® : 57 CDA type I is a rare inherited red blood cell disorder characterized by macrocytic anemia, ineffective erythropoiesis, and secondary hemochromatosis. It is occasionally associated with bone abnormalities, especially of the hands and feet (acrodysostosis), nail hypoplasia, and scoliosis (Tamary et al., 2005). Striking morphologic abnormalities of erythroblasts, reviewed by Wickramasinghe and Wood (2005), include the 'Swiss-cheese' abnormality of erythroblasts on electron microscopy. Four types of CDA, all of which show show ineffective erythropoiesis and multinuclear erythroblasts, have been characterized by clinical and hematopoietic findings. The classification of the first 3 types is based on that described by Wendt and Heimpel (1967). Type I is characterized by megaloblastic changes. The more common type II (224100) is characterized by normocytic binuclear or multinuclear red cells, which on electron microscopy contain double cytoplasmic membranes. Type III (105600), which shows autosomal dominant inheritance, has prominent erythroblastic multinuclearity forming 'gigantoblasts' with up to 12 nuclei. Type IV (613673) is the designation given to a form of CDA with characteristics different from those of types I, II, and III (Wickramasinghe et al., 1991; Arnaud et al., 2010). (224120) (Updated 20-May-2021)

MalaCards based summary : Anemia, Congenital Dyserythropoietic, Type Ia, also known as congenital dyserythropoietic anemia type i, is related to rare hereditary hemochromatosis and anemia, congenital dyserythropoietic, type ib, and has symptoms including icterus An important gene associated with Anemia, Congenital Dyserythropoietic, Type Ia is CDAN1 (Codanin 1), and among its related pathways/superpathways are Hematopoietic cell lineage and Hematopoietic Stem Cell Differentiation. The drugs Iron and Omeprazole have been mentioned in the context of this disorder. Affiliated tissues include liver, heart and bone marrow, and related phenotypes are syndactyly and splenomegaly

Disease Ontology : 12 A congenital dyserythropoietic anemia characterized by autosomal recessive inheritance of macrocytic anemia, ineffective erythropoiesis, and secondary hemochromatosis.

GARD : 20 Congenital dyserythropoietic anemia (CDA) type 1 is an inherited blood disorder characterized by moderate to severe anemia. It is usually diagnosed in childhood or adolescence, although in some cases, the condition can be detected before birth. Many affected individuals have yellowing of the skin and eyes ( jaundice ) and an enlarged liver and spleen ( hepatosplenomegaly ). This condition also causes the body to absorb too much iron, which builds up and can damage tissues and organs. In particular, iron overload can lead to an abnormal heart rhythm (arrhythmia), congestive heart failure, diabetes, and chronic liver disease (cirrhosis). Rarely, people with CDA type I are born with skeletal abnormalities, most often involving the fingers and/or toes. CDA type I usually results from mutations in the CDAN1 (about 90% of the cases) and C150RF41 genes (about 1% of the cases). In about 9% of the cases no cause can be identified. It is inherited in an autosomal recessive pattern. Treatment involves medication such as interferon, and sometimes bone marrow transplant.

UniProtKB/Swiss-Prot : 72 Anemia, congenital dyserythropoietic, 1A: An autosomal recessive blood disorder characterized by morphological abnormalities of erythroblasts, ineffective erythropoiesis, macrocytic anemia and secondary hemochromatosis. It is occasionally associated with bone abnormalities, especially of the hands and feet (acrodysostosis), nail hypoplasia, and scoliosis. Ultrastructural features include internuclear chromatin bridges connecting some nearly completely separated erythroblasts and an abnormal appearance (spongy or Swiss-cheese appearance) of the heterochromatin in a high proportion of the erythroblasts.

Wikipedia : 73 Congenital dyserythropoietic anemia type I (CDA I) is a disorder of blood cell production, particularly... more...

GeneReviews: NBK5313

Related Diseases for Anemia, Congenital Dyserythropoietic, Type Ia

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 Ia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 88)
# Related Disease Score Top Affiliating Genes
1 rare hereditary hemochromatosis 31.0 HJV HAMP
2 anemia, congenital dyserythropoietic, type ib 30.9 SEC23B KLF1 KIF23 HAMP GATA1 CDIN1
3 hemosiderosis 30.9 HJV HAMP EPO
4 neonatal anemia 30.5 KLF1 EPO
5 congenital dyserythropoietic anemia 30.4 TFRC SEC23B KLF1 KIF23 HAMP GDF15
6 hemochromatosis, type 1 30.3 TFRC HJV HAMP H2AC18 GDF15 EPO
7 deficiency anemia 30.2 TFRC KLF1 HJV HAMP H2AC18 GDF15
8 hereditary spherocytosis 29.9 TFRC SEC23B KLF1 H2AC18 GYPA GATA1
9 beta-thalassemia 29.8 TFRC KLF1 HJV HAMP GDF15 GATA1
10 hemoglobinopathy 29.4 TFRC KLF1 HJV HAMP GYPA GATA1
11 congenital hemolytic anemia 29.3 SEC23B KLF1 HAMP H2AC18 GYPA GATA1
12 dyserythropoiesis, congenital, with ultrastructurally normal erythroblast heterochromatin 11.3
13 macrocytic anemia 10.7
14 autosomal recessive disease 10.5
15 thalassemia 10.5
16 pulmonary hypertension 10.4
17 hemolytic anemia 10.4
18 angioid streaks 10.3
19 inflammatory bowel disease 27 10.3 GATA1 EPO
20 chromosome 2q35 duplication syndrome 10.3
21 gallbladder disease 1 10.3
22 cholelithiasis 10.3
23 splenomegaly 10.3
24 liver disease 10.3
25 lung clear cell carcinoma 10.2 HAMP EPO
26 anemia of prematurity 10.2 HAMP EPO
27 acquired polycythemia 10.2 HAMP EPO
28 thrombocytopenia with beta-thalassemia, x-linked 10.2 KLF1 GATA1
29 acute erythroid leukemia 10.2 KLF1 GATA1 EPO
30 thalassemia minor 10.2 KLF1 GATA1 EPO
31 yemenite deaf-blind hypopigmentation syndrome 10.2
32 bone disease 10.2
33 neonatal jaundice 10.2
34 ptosis 10.2
35 congenital ptosis 10.2
36 madelung deformity 10.2
37 bunion 10.2
38 folic acid deficiency anemia 10.2 TFRC HAMP EPO
39 parasitic protozoa infectious disease 10.1 TFRC H2AC18 GYPA
40 gilbert syndrome 10.1
41 pectus excavatum 10.1
42 pulmonary hypertension, primary, 1 10.1
43 hydrops fetalis, nonimmune 10.1
44 deafness-infertility syndrome 10.1
45 lymphatic malformation 7 10.1
46 hypothyroidism 10.1
47 thrombocytopenia 10.1
48 bilirubin metabolic disorder 10.1
49 adenoma 10.1
50 left ventricular noncompaction 10.1

Graphical network of the top 20 diseases related to Anemia, Congenital Dyserythropoietic, Type Ia:



Diseases related to Anemia, Congenital Dyserythropoietic, Type Ia

Symptoms & Phenotypes for Anemia, Congenital Dyserythropoietic, Type Ia

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

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 syndactyly 31 occasional (7.5%) HP:0001159
2 splenomegaly 31 HP:0001744
3 hydrops fetalis 31 HP:0001789
4 reticulocytosis 31 HP:0001923
5 prolonged neonatal jaundice 31 HP:0006579
6 anisocytosis 31 HP:0011273
7 poikilocytosis 31 HP:0004447
8 mild postnatal growth retardation 31 HP:0001530
9 erythroid hyperplasia 31 HP:0012132
10 macrocytic dyserythropoietic anemia 31 HP:0005532
11 endopolyploidy on chromosome studies of bone marrow 31 HP:0003352
12 reduced level of n-acetylglucosaminyltransferase ii 31 HP:0003655

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Abdomen Spleen:
splenomegaly

Hematology:
anisocytosis
poikilocytosis
macrocytosis
increased reticulocytes
dyserythropoietic anemia
more
Laboratory Abnormalities:
decreased hemoglobin
increased serum bilirubin

Skin Nails Hair Skin:
jaundice

Skeletal Feet:
syndactyly (in some patients)

Clinical features from OMIM®:

224120 (Updated 20-May-2021)

UMLS symptoms related to Anemia, Congenital Dyserythropoietic, Type Ia:


icterus

MGI Mouse Phenotypes related to Anemia, Congenital Dyserythropoietic, Type Ia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.36 ASF1B CDAN1 EPO GATA1 GDF15 HJV

Drugs & Therapeutics for Anemia, Congenital Dyserythropoietic, Type Ia

Drugs for Anemia, Congenital Dyserythropoietic, Type Ia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iron Approved Phase 4 7439-89-6 23925 29936
2
Omeprazole Approved, Investigational, Vet_approved Phase 4 73590-58-6 4594
3 Gastrointestinal Agents Phase 4
4 Antacids Phase 4
5 Anti-Ulcer Agents Phase 4
6 Proton Pump Inhibitors Phase 4

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Evaluation of the Efficacy in Decreasing Iron Absorption in Patients With Congenital Dyserythropoietic Anemia Type I by Treatment With LOSEC Unknown status NCT01795794 Phase 4 omeprazole

Search NIH Clinical Center for Anemia, Congenital Dyserythropoietic, Type Ia

Genetic Tests for Anemia, Congenital Dyserythropoietic, Type Ia

Genetic tests related to Anemia, Congenital Dyserythropoietic, Type Ia:

# Genetic test Affiliating Genes
1 Congenital Dyserythropoietic Anemia, Type I 29 CDAN1

Anatomical Context for Anemia, Congenital Dyserythropoietic, Type Ia

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

40
Liver, Heart, Bone Marrow, Spleen, Bone, Lung, Myeloid

Publications for Anemia, Congenital Dyserythropoietic, Type Ia

Articles related to Anemia, Congenital Dyserythropoietic, Type Ia:

(show top 50) (show all 102)
# Title Authors PMID Year
1
Congenital dyserythropoietic anemia type I (CDA I): molecular genetics, clinical appearance, and prognosis based on long-term observation. 61 57 6 25
16141353 2006
2
Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1. 57 54 6 61
12434312 2002
3
Clinical and molecular variability in congenital dyserythropoietic anaemia type I. 54 57 6
16098079 2005
4
Homozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anemia type I. 61 25 6
23716552 2013
5
Linkage and mutational analysis of the CDAN1 gene reveals genetic heterogeneity in congenital dyserythropoietic anemia type I. 6 61 25
16754775 2006
6
Advances in the understanding of the congenital dyserythropoietic anaemias. 57 25
16281933 2005
7
CATSPER2, a human autosomal nonsyndromic male infertility gene. 54 6 61
12825070 2003
8
Characterization of Two Cases of Congenital Dyserythropoietic Anemia Type I Shed Light on the Uncharacterized C15orf41 Protein. 61 6
31191338 2019
9
Elevated growth differentiation factor 15 expression in patients with congenital dyserythropoietic anemia type I. 57 61
18824595 2008
10
Congenital dyserythropoietic anemia type I presenting as persistent pulmonary hypertension of the newborn. 61 57
10753260 2000
11
Localization of the gene for congenital dyserythropoietic anemia type I to a <1-cM interval on chromosome 15q15.1-15.3. 57 61
9545404 1998
12
Congenital diserythropoietic anemia type I. Report on monozygotic twins with associated hemochromatosis and short stature. 57 61
2224147 1990
13
Congenital dyserythropoietic anemia type I: report of a pair of siblings. 61 57
3096054 1986
14
Congenital dyserythropoietic anemia type I: report of a pair of siblings in Japan. 61 57
476312 1979
15
Clinical and genetic features of congenital dyserythropoietic anemia (CDA). 6
29901818 2018
16
Morbidity and mortality of adult patients with congenital dyserythropoietic anemia type I. 25 61
27206021 2017
17
Codanin-1, mutated in the anaemic disease CDAI, regulates Asf1 function in S-phase histone supply. 6
22407294 2012
18
A dominant mutation in the gene encoding the erythroid transcription factor KLF1 causes a congenital dyserythropoietic anemia. 57
21055716 2010
19
Pregnancy outcome in congenital dyserythropoietic anemia type I. 61 25
18573172 2008
20
Congenital dyserythropoietic anemia in a Chinese family with a mutation of the CDAN1-gene. 6
18575862 2008
21
Evidence of genetic heterogeneity in congenital dyserythropoietic anaemia type I. 6
16643456 2006
22
A comprehensive study of the neonatal manifestations of congenital dyserythropoietic anemia type I. 61 25
15543010 2004
23
Transfusion-dependent congenital dyserythropoietic anemia type I successfully treated with allogeneic stem cell transplantation. 61 25
12180113 2002
24
Severe congenital dyserythropoietic anaemia type I: prenatal management, transfusion support and alpha-interferon therapy. 57
10971401 2000
25
Non-haematological traits associated with congenital dyserythropoietic anaemia type 1: a new entity emerging. 6
9220189 1997
26
Congenital dyserythropoietic anaemia type I. Report of two siblings from Saudi Arabia. 57
7725852 1995
27
Congenital dyserythropoietic anaemia with novel intra-erythroblastic and intra-erythrocytic inclusions. 57
1659863 1991
28
A variant congenital dyserythropoietic anaemia presenting as a fatal hydrops foetalis. 57
2261356 1990
29
Congenital dyserythropoietic anaemia in children: report of three cases from Kuwait. 57
2475061 1989
30
A congenital dyserythropoietic anaemia variant presenting as hydrops fetalis. 57
2757972 1989
31
Congenital dyserythropoietic anaemia type I: absence of clonal expression in the nuclear abnormalities of cultured erythroblasts. 57
7426450 1980
32
Type I dyserythropoietic anemia. A 30-year follow-up. 57
7361726 1980
33
Congenital dyserythropoietic anaemia type I in two brothers presenting with neonatal jaundice. 57
718245 1978
34
Congential dyserythropoietic anemia--type IV. 57
1097617 1975
35
[Congenital dyserythropoietic anemia in a pair of dizygotic twins]. 57
5590186 1967
36
Angioid Streaks in Types I and II Congenital Dyserythropoietic Anaemia (CDA). 25
27116514 2016
37
Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II. 25
19561605 2009
38
Codanin-1, the protein encoded by the gene mutated in congenital dyserythropoietic anemia type I (CDAN1), is cell cycle-regulated. 54 61
19336738 2009
39
Congenital dyserythropoietic anaemia, type I, in a Caucasian patient with retinal angioid streaks (homozygous Arg1042Trp mutation in codanin-1). 25
18081704 2008
40
Congenital dyserythropoietic anemia type I with bone abnormalities, mutations of the CDAN I gene, and significant responsiveness to alpha-interferon therapy. 54 61
16767397 2006
41
Blindness due to angioid streaks in congenital dyserythropoietic anaemia type I. 25
16681633 2006
42
Long-term alpha interferon treatment is effective on anaemia and significantly reduces iron overload in congenital dyserythropoiesis type I. 25
15458519 2004
43
Congenital dyserythropoietic anemia type II: epidemiology, clinical appearance, and prognosis based on long-term observation. 25
12933587 2003
44
The Drosophila cell survival gene discs lost encodes a cytoplasmic Codanin-1-like protein, not a homolog of tight junction PDZ protein Patj. 61 54
14667407 2003
45
Congenital dyserythropoietic anemia type I: First report from the Congenital Dyserythropoietic Anemia Registry of North America (CDAR). 61
33401150 2021
46
Hepatic and cardiac iron load as determined by MRI T2* in patients with congenital dyserythropoietic anemia type I. 61
32918595 2020
47
Codanin-1 mutations engineered in human erythroid cells demonstrate role of CDAN1 in terminal erythroid maturation. 61
33075436 2020
48
Treatment of transfusion-dependent congenital dyserythropoietic anemia Type I patients with pegylated interferon alpha-2a. 61
32302424 2020
49
Characterization of the interactions between Codanin-1 and C15Orf41, two proteins implicated in congenital dyserythropoietic anemia type I disease. 61
32293259 2020
50
Congenital dyserythropoietic anemia type I mimicking myelodysplasia syndrome with a novel CDAN1 mutation. 61
31760486 2020

Variations for Anemia, Congenital Dyserythropoietic, Type Ia

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

6 (show top 50) (show all 173)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CDAN1 NM_138477.4(CDAN1):c.1796A>G (p.Asn599Ser) SNV Pathogenic 3178 rs120074166 GRCh37: 15:43023473-43023473
GRCh38: 15:42731275-42731275
2 CDAN1 NM_138477.4(CDAN1):c.2602T>A (p.Phe868Ile) SNV Pathogenic 3180 rs120074168 GRCh37: 15:43021264-43021264
GRCh38: 15:42729066-42729066
3 CDAN1 NM_138477.4(CDAN1):c.1860+5G>A SNV Pathogenic 3181 rs113313967 GRCh37: 15:43023404-43023404
GRCh38: 15:42731206-42731206
4 CDAN1 NM_138477.4(CDAN1):c.1117_1119del (p.Val373del) Deletion Pathogenic 3182 rs120074169 GRCh37: 15:43027315-43027317
GRCh38: 15:42735117-42735119
5 CDAN1 NM_138477.4(CDAN1):c.156C>G (p.Phe52Leu) SNV Pathogenic 21746 rs80338694 GRCh37: 15:43028913-43028913
GRCh38: 15:42736715-42736715
6 CDAN1 NM_138477.2(CDAN1):c.2015C>T (p.Pro672Leu) SNV Pathogenic 3179 rs120074167 GRCh37: 15:43022955-43022955
GRCh38: 15:42730757-42730757
7 CDAN1 NM_138477.4(CDAN1):c.3124C>T (p.Arg1042Trp) SNV Pathogenic 3176 rs80338697 GRCh37: 15:43018588-43018588
GRCh38: 15:42726390-42726390
8 CDAN1 NM_138477.4(CDAN1):c.3389C>T (p.Pro1130Leu) SNV Pathogenic 3177 rs80338699 GRCh37: 15:43017748-43017748
GRCh38: 15:42725550-42725550
9 CDAN1 NM_138477.4(CDAN1):c.1239T>A (p.Tyr413Ter) SNV Pathogenic 827786 rs1336651679 GRCh37: 15:43026442-43026442
GRCh38: 15:42734244-42734244
10 CDAN1 NM_138477.4(CDAN1):c.1596dup (p.Met533fs) Duplication Pathogenic 1033082 GRCh37: 15:43023960-43023961
GRCh38: 15:42731762-42731763
11 CDAN1 NM_138477.4(CDAN1):c.2044C>T (p.Arg682Ter) SNV Pathogenic 1033083 GRCh37: 15:43022926-43022926
GRCh38: 15:42730728-42730728
12 CDAN1 NM_138477.4(CDAN1):c.2174+2T>G SNV Pathogenic 1033084 GRCh37: 15:43022794-43022794
GRCh38: 15:42730596-42730596
13 CDAN1 NM_138477.4(CDAN1):c.276_286del (p.Ser93fs) Deletion Pathogenic 1033085 GRCh37: 15:43028783-43028793
GRCh38: 15:42736585-42736595
14 CDIN1 NM_001321759.2(CDIN1):c.281A>G (p.Tyr94Cys) SNV Likely pathogenic 97058 rs587777101 GRCh37: 15:36950041-36950041
GRCh38: 15:36657840-36657840
15 CDIN1 NM_001321759.2(CDIN1):c.533T>A (p.Leu178Gln) SNV Likely pathogenic 97057 rs587777100 GRCh37: 15:36989580-36989580
GRCh38: 15:36697379-36697379
16 CDAN1 NM_138477.4(CDAN1):c.2173C>T (p.Arg725Trp) SNV Likely pathogenic 632233 rs138334226 GRCh37: 15:43022797-43022797
GRCh38: 15:42730599-42730599
17 CDIN1 NM_001321759.2(CDIN1):c.281A>C (p.Tyr94Ser) SNV Likely pathogenic 692134 rs587777101 GRCh37: 15:36950041-36950041
GRCh38: 15:36657840-36657840
18 CDIN1 NM_001321759.2(CDIN1):c.689A>C (p.His230Pro) SNV Likely pathogenic 692135 rs1595503440 GRCh37: 15:37002135-37002135
GRCh38: 15:36709934-36709934
19 CDAN1 NM_138477.4(CDAN1):c.2066C>A (p.Ala689Glu) SNV Likely pathogenic 807554 rs140334403 GRCh37: 15:43022904-43022904
GRCh38: 15:42730706-42730706
20 CDAN1 NM_138477.4(CDAN1):c.2140C>T (p.Arg714Trp) SNV Likely pathogenic 21748 rs80338696 GRCh37: 15:43022830-43022830
GRCh38: 15:42730632-42730632
21 CDAN1 NM_138477.4(CDAN1):c.3128A>T (p.Asp1043Val) SNV Uncertain significance 21750 rs80338698 GRCh37: 15:43018584-43018584
GRCh38: 15:42726386-42726386
22 CDAN1 NM_138477.4(CDAN1):c.3559-11A>G SNV Uncertain significance 315919 rs375128684 GRCh37: 15:43016825-43016825
GRCh38: 15:42724627-42724627
23 CDAN1 NM_138477.4(CDAN1):c.3384G>A (p.Pro1128=) SNV Uncertain significance 315920 rs141832648 GRCh37: 15:43017753-43017753
GRCh38: 15:42725555-42725555
24 CDAN1 NM_138477.4(CDAN1):c.2868C>T (p.Ala956=) SNV Uncertain significance 315927 rs150438471 GRCh37: 15:43020402-43020402
GRCh38: 15:42728204-42728204
25 CDAN1 NM_138477.4(CDAN1):c.2016G>A (p.Pro672=) SNV Uncertain significance 315939 rs371799686 GRCh37: 15:43022954-43022954
GRCh38: 15:42730756-42730756
26 CDAN1 NM_138477.4(CDAN1):c.255G>A (p.Arg85=) SNV Uncertain significance 315954 rs886051159 GRCh37: 15:43028814-43028814
GRCh38: 15:42736616-42736616
27 CDAN1 NM_138477.4(CDAN1):c.*223G>C SNV Uncertain significance 315914 rs568387944 GRCh37: 15:43016466-43016466
GRCh38: 15:42724268-42724268
28 CDAN1 NM_138477.4(CDAN1):c.*58G>A SNV Uncertain significance 315917 rs567117839 GRCh37: 15:43016631-43016631
GRCh38: 15:42724433-42724433
29 CDAN1 NM_138477.4(CDAN1):c.1839G>A (p.Gly613=) SNV Uncertain significance 315944 rs148994527 GRCh37: 15:43023430-43023430
GRCh38: 15:42731232-42731232
30 CDAN1 NM_138477.4(CDAN1):c.2576C>T (p.Pro859Leu) SNV Uncertain significance 315931 rs370476233 GRCh37: 15:43021290-43021290
GRCh38: 15:42729092-42729092
31 CDAN1 NM_138477.4(CDAN1):c.57G>C (p.Val19=) SNV Uncertain significance 315957 rs150418267 GRCh37: 15:43029244-43029244
GRCh38: 15:42737046-42737046
32 CDAN1 NM_138477.4(CDAN1):c.1740-10T>A SNV Uncertain significance 315946 rs886051157 GRCh37: 15:43023539-43023539
GRCh38: 15:42731341-42731341
33 CDAN1 NM_138477.4(CDAN1):c.774-3T>C SNV Uncertain significance 315951 rs756901380 GRCh37: 15:43027880-43027880
GRCh38: 15:42735682-42735682
34 CDAN1 NM_138477.4(CDAN1):c.2197A>C (p.Ser733Arg) SNV Uncertain significance 315937 rs150491625 GRCh37: 15:43022391-43022391
GRCh38: 15:42730193-42730193
35 CDAN1 NM_138477.4(CDAN1):c.1322C>T (p.Ala441Val) SNV Uncertain significance 315949 rs886051158 GRCh37: 15:43026181-43026181
GRCh38: 15:42733983-42733983
36 CDAN1 NM_138477.4(CDAN1):c.3204+5G>A SNV Uncertain significance 315921 rs201125492 GRCh37: 15:43018503-43018503
GRCh38: 15:42726305-42726305
37 CDAN1 NM_138477.4(CDAN1):c.2406C>T (p.Ile802=) SNV Uncertain significance 315935 rs145050561 GRCh37: 15:43021767-43021767
GRCh38: 15:42729569-42729569
38 CDAN1 NM_138477.4(CDAN1):c.3142G>A (p.Val1048Ile) SNV Uncertain significance 315923 rs745816995 GRCh37: 15:43018570-43018570
GRCh38: 15:42726372-42726372
39 CDAN1 NM_138477.4(CDAN1):c.2872C>T (p.Leu958=) SNV Uncertain significance 262373 rs764432820 GRCh37: 15:43020228-43020228
GRCh38: 15:42728030-42728030
40 CDAN1 NM_138477.4(CDAN1):c.-4C>G SNV Uncertain significance 315958 rs776319103 GRCh37: 15:43029304-43029304
GRCh38: 15:42737106-42737106
41 CDAN1 NM_138477.4(CDAN1):c.2008-8C>T SNV Uncertain significance 315940 rs201733620 GRCh37: 15:43022970-43022970
GRCh38: 15:42730772-42730772
42 CDAN1 NM_138477.4(CDAN1):c.*827A>G SNV Uncertain significance 315906 rs573659922 GRCh37: 15:43015862-43015862
GRCh38: 15:42723664-42723664
43 CDAN1 NM_138477.4(CDAN1):c.*349A>G SNV Uncertain significance 315912 rs886051156 GRCh37: 15:43016340-43016340
GRCh38: 15:42724142-42724142
44 CDAN1 NM_138477.4(CDAN1):c.*722G>A SNV Uncertain significance 315909 rs528323093 GRCh37: 15:43015967-43015967
GRCh38: 15:42723769-42723769
45 CDAN1 NM_138477.4(CDAN1):c.1058-11T>G SNV Uncertain significance 315950 rs372671684 GRCh37: 15:43027387-43027387
GRCh38: 15:42735189-42735189
46 CDAN1 NM_138477.4(CDAN1):c.3590A>T (p.Asn1197Ile) SNV Uncertain significance 315918 rs771780683 GRCh37: 15:43016783-43016783
GRCh38: 15:42724585-42724585
47 CDAN1 NM_138477.4(CDAN1):c.2516C>T (p.Pro839Leu) SNV Uncertain significance 315932 rs772668700 GRCh37: 15:43021452-43021452
GRCh38: 15:42729254-42729254
48 CDAN1 NM_138477.4(CDAN1):c.2428G>C (p.Ala810Pro) SNV Uncertain significance 315934 rs747975571 GRCh37: 15:43021540-43021540
GRCh38: 15:42729342-42729342
49 CDAN1 NM_138477.4(CDAN1):c.2361G>A (p.Ala787=) SNV Uncertain significance 315936 rs377342875 GRCh37: 15:43021812-43021812
GRCh38: 15:42729614-42729614
50 CDAN1 NM_138477.4(CDAN1):c.256C>T (p.Pro86Ser) SNV Uncertain significance 315953 rs543791953 GRCh37: 15:43028813-43028813
GRCh38: 15:42736615-42736615

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

72
# Symbol AA change Variation ID SNP ID
1 CDAN1 p.Asn599Ser VAR_017218 rs120074166
2 CDAN1 p.Pro672Leu VAR_017219 rs120074167
3 CDAN1 p.Glu698Lys VAR_017220
4 CDAN1 p.Arg714Trp VAR_017221 rs80338696
5 CDAN1 p.Phe868Ile VAR_017222 rs120074168
6 CDAN1 p.Val869Met VAR_017223 rs370895637
7 CDAN1 p.Arg1042Trp VAR_017224 rs80338697
8 CDAN1 p.Asp1043Val VAR_017225 rs80338698
9 CDAN1 p.Pro1130Leu VAR_017226 rs80338699

Expression for Anemia, Congenital Dyserythropoietic, Type Ia

Search GEO for disease gene expression data for Anemia, Congenital Dyserythropoietic, Type Ia.

Pathways for Anemia, Congenital Dyserythropoietic, Type Ia

Pathways related to Anemia, Congenital Dyserythropoietic, Type Ia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.43 TFRC GYPA EPO
2 10.61 KLF1 GYPA GATA1 EPO
3 10.23 TFRC HAMP
4 9.8 HJV HAMP

GO Terms for Anemia, Congenital Dyserythropoietic, Type Ia

Cellular components related to Anemia, Congenital Dyserythropoietic, Type Ia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear replication fork GO:0043596 9.26 TONSL MMS22L
2 MCM complex GO:0042555 9.16 TONSL MMS22L
3 HFE-transferrin receptor complex GO:1990712 8.96 TFRC HJV
4 FACT complex GO:0035101 8.62 TONSL MMS22L

Biological processes related to Anemia, Congenital Dyserythropoietic, Type Ia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA replication-independent nucleosome assembly GO:0006336 9.32 IPO4 ASF1B
2 sperm capacitation GO:0048240 9.26 EFCAB9 CATSPER2
3 response to vitamin A GO:0033189 9.16 HAMP EPO
4 cellular iron ion homeostasis GO:0006879 9.13 TFRC HJV HAMP
5 erythrocyte differentiation GO:0030218 8.92 KLF1 GATA1 EPO CDIN1

Sources for Anemia, Congenital Dyserythropoietic, Type Ia

3 CDC
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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