CDAN1B
MCID: ANM049
MIFTS: 39

Anemia, Congenital Dyserythropoietic, Type Ib (CDAN1B)

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

Aliases & Classifications for Anemia, Congenital Dyserythropoietic, Type Ib

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

Name: Anemia, Congenital Dyserythropoietic, Type Ib 57 71
Congenital Dyserythropoietic Anemia Type Ib 12 73 15
Cdan1b 57 12 73
Congenital Dyserythropoietic Anemia Type Type 1b 29 6
Cda, Type Ib 57 12
Anemia, Dyserythropoietic, Congenital, Type Ib 39
Dyserythropoietic Anemia, Congenital, Type Ib 57
Anemia, Congenital Dyserythropoietic, 1b 73
Anemia, Dyserythropoietic, Congenital 44
Cda Ib 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in childhood
anemia is transfusion-dependent
anemia does not respond to alpha-interferon treatment


HPO:

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


Classifications:



External Ids:

Disease Ontology 12 DOID:0111397
OMIM® 57 615631
OMIM Phenotypic Series 57 PS224120
MeSH 44 D000742
SNOMED-CT 67 59548005
UMLS 71 C0271933 C3810185

Summaries for Anemia, Congenital Dyserythropoietic, Type Ib

OMIM® : 57 Congenital dyserythropoietic anemia type I is an autosomal recessive hematologic disorder characterized by congenital macrocytic anemia secondary to ineffective erythropoiesis. The bone marrow shows erythroid hyperplasia, with nuclear abnormalities in most erythroblasts. Up to 3% of erythroblasts have interchromatin bridges, and erythroblast nuclei are abnormally electron dense with spongy ('Swiss cheese-like') heterochromatin on electron microscopy. Some reported patients have distal digital abnormalities (summary by Ahmed et al., 2006). For a general phenotypic description and a discussion of genetic heterogeneity of CDA, see CDAN1A (224120). (615631) (Updated 05-Mar-2021)

MalaCards based summary : Anemia, Congenital Dyserythropoietic, Type Ib, also known as congenital dyserythropoietic anemia type ib, is related to anemia, congenital dyserythropoietic, type ii and anemia, congenital dyserythropoietic, type iv, and has symptoms including icterus An important gene associated with Anemia, Congenital Dyserythropoietic, Type Ib is CDIN1 (CDAN1 Interacting Nuclease 1), and among its related pathways/superpathways is Hematopoietic Stem Cell Differentiation. Affiliated tissues include bone marrow and bone, and related phenotypes are short stature and small nail

Disease Ontology : 12 A congenital dyserythropoietic anemia type I that has material basis in homozygous or compound heterozygous mutation in C15orf41 on chromosome 15q14.

UniProtKB/Swiss-Prot : 73 Anemia, congenital dyserythropoietic, 1B: 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.

Related Diseases for Anemia, Congenital Dyserythropoietic, Type Ib

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

(show all 36)
# Related Disease Score Top Affiliating Genes
1 anemia, congenital dyserythropoietic, type ii 31.9 SEC23B KLF1 KIF23 CDIN1 CDAN1
2 anemia, congenital dyserythropoietic, type iv 31.0 SEC23B KLF1 KIF23 GATA1 CDIN1 CDAN1
3 anemia, congenital dyserythropoietic, type ia 30.8 SEC23B KLF1 KIF23 HAMP GATA1 CDIN1
4 congenital dyserythropoietic anemia 30.3 SEC23B KLF1 KIF23 HAMP GATA1 CDIN1
5 thalassemia minor 10.2 KLF1 GATA1
6 acute erythroid leukemia 10.2 KLF1 GATA1
7 thrombocytopenia with beta-thalassemia, x-linked 10.1 KLF1 GATA1
8 spherocytosis, type 2 10.1 KLF1 GATA1
9 acrodysostosis 10.1 CDIN1 CDAN1
10 spherocytosis, type 4 10.1 KLF1 GATA1
11 spherocytosis, type 3 10.1 KLF1 GATA1
12 congenital nonspherocytic hemolytic anemia 10.1 G6PD CDIN1
13 pyruvate kinase deficiency of red cells 10.0 G6PD CDIN1
14 rh deficiency syndrome 10.0 KCNN4 AQP1
15 trimethoprim allergy 9.9 HP G6PD
16 blackwater fever 9.9 HP G6PD
17 priapism 9.9 HP AQP1
18 anemia, nonspherocytic hemolytic, due to g6pd deficiency 9.9 HP G6PD
19 anemia, autoimmune hemolytic 9.8 HP G6PD
20 hypotrichosis 2 9.8 KLF1 GATA1
21 glucosephosphate dehydrogenase deficiency 9.8 HP G6PD
22 diamond-blackfan anemia 9.8 SEC23B KLF1 KCNN4 GATA1
23 hemosiderosis 9.8 HP HAMP
24 methemoglobinemia 9.7 HP G6PD
25 sickle cell disease 9.7 KCNN4 HP G6PD
26 cutaneous porphyria 9.7 KLF1 HAMP GATA1
27 anemia, congenital dyserythropoietic, type iii 9.6 SEC23B KLF1 KIF23 GATA1 CDIN1 CDAN1
28 iron metabolism disease 9.5 HAMP G6PD
29 hemoglobin h disease 9.4 KLF1 HAMP G6PD AK1
30 hemolytic anemia 9.4 KLF1 KCNN4 HP G6PD AK1
31 beta-thalassemia 9.4 KLF1 HAMP GATA1 G6PD
32 hereditary spherocytosis 9.1 SEC23B KLF1 HP GATA1 G6PD AQP1
33 hemoglobinopathy 9.1 KLF1 HP HAMP GATA1 G6PD
34 alpha-thalassemia 9.1 KLF1 HP HAMP GATA1 G6PD
35 deficiency anemia 9.0 KLF1 HP HAMP GATA1 G6PD CDAN1
36 congenital hemolytic anemia 8.7 SEC23B KLF1 HP HAMP GATA1 G6PD

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



Diseases related to Anemia, Congenital Dyserythropoietic, Type Ib

Symptoms & Phenotypes for Anemia, Congenital Dyserythropoietic, Type Ib

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

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 short stature 31 occasional (7.5%) HP:0004322
2 small nail 31 occasional (7.5%) HP:0001792
3 syndactyly 31 occasional (7.5%) HP:0001159
4 splenomegaly 31 HP:0001744
5 hepatomegaly 31 HP:0002240
6 pallor 31 HP:0000980
7 jaundice 31 HP:0000952
8 reticulocytosis 31 HP:0001923
9 anemia of inadequate production 31 HP:0010972
10 anisocytosis 31 HP:0011273
11 poikilocytosis 31 HP:0004447
12 erythroid hyperplasia 31 HP:0012132

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Abdomen Spleen:
splenomegaly

Skin Nails Hair Skin:
pallor
jaundice

Growth Height:
short stature (in some patients)

Growth Other:
poor growth

Skeletal Hands:
phalangeal abnormalities (in some patients)
hypoplasia of terminal phalanges (in some patients)

Abdomen Liver:
hepatomegaly

Hematology:
anisocytosis
poikilocytosis
macrocytosis
erythroid hyperplasia seen on bone marrow biopsy
increased reticulocytes
more
Skeletal Feet:
syndactyly (in some patients)
phalangeal abnormalities (in some patients)
hypoplasia of terminal phalanges (in some patients)
metatarsal duplication (in some patients)

Laboratory Abnormalities:
decreased hemoglobin
increased serum bilirubin
increased fetal hemoglobin

Skin Nails Hair Nails:
nail hypoplasia (in some patients)

Clinical features from OMIM®:

615631 (Updated 05-Mar-2021)

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


icterus

GenomeRNAi Phenotypes related to Anemia, Congenital Dyserythropoietic, Type Ib according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased caspase 3/7 activity GR00318-A 8.8 BACE2 HAMP KIF23

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.61 AQP1 BACE2 CDAN1 CDIN1 G6PD GATA1
2 hematopoietic system MP:0005397 9.23 AQP1 CDAN1 G6PD GATA1 HP KCNN4

Drugs & Therapeutics for Anemia, Congenital Dyserythropoietic, Type Ib

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Impact of Growth Differentiating Factor (GDF) 15 in Sickle Cell Disease and Hereditary Spherocytosis Unknown status NCT01201135
2 French National Registry of Congenital Dyserythropoietic Anemia Recruiting NCT03983629
3 The Congenital Dyserythropoietic Anemia Registry (CDAR) Recruiting NCT02964494

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

Cochrane evidence based reviews: anemia, dyserythropoietic, congenital

Genetic Tests for Anemia, Congenital Dyserythropoietic, Type Ib

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

# Genetic test Affiliating Genes
1 Congenital Dyserythropoietic Anemia Type Type 1b 29 CDIN1

Anatomical Context for Anemia, Congenital Dyserythropoietic, Type Ib

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

40
Bone Marrow, Bone

Publications for Anemia, Congenital Dyserythropoietic, Type Ib

Articles related to Anemia, Congenital Dyserythropoietic, Type Ib:

# Title Authors PMID Year
1
Homozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anemia type I. 57 6
23716552 2013
2
Evidence of genetic heterogeneity in congenital dyserythropoietic anaemia type I. 57 6
16643456 2006
3
Non-haematological traits associated with congenital dyserythropoietic anaemia type 1: a new entity emerging. 57 6
9220189 1997
4
Linkage and mutational analysis of the CDAN1 gene reveals genetic heterogeneity in congenital dyserythropoietic anemia type I. 57
16754775 2006

Variations for Anemia, Congenital Dyserythropoietic, Type Ib

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

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CDIN1 NM_001321759.2(CDIN1):c.281A>C (p.Tyr94Ser) SNV Likely pathogenic 692134 rs587777101 15:36950041-36950041 15:36657840-36657840
2 CDIN1 NM_001321759.2(CDIN1):c.689A>C (p.His230Pro) SNV Likely pathogenic 692135 rs1595503440 15:37002135-37002135 15:36709934-36709934
3 CDIN1 NM_001321759.2(CDIN1):c.533T>A (p.Leu178Gln) SNV Likely pathogenic 97057 rs587777100 15:36989580-36989580 15:36697379-36697379
4 CDIN1 NM_001321759.2(CDIN1):c.281A>G (p.Tyr94Cys) SNV Likely pathogenic 97058 rs587777101 15:36950041-36950041 15:36657840-36657840
5 CDIN1 NM_001321759.2(CDIN1):c.707A>G (p.Tyr236Cys) SNV Uncertain significance 692136 rs768744226 15:37002153-37002153 15:36709952-36709952
6 CDIN1 NM_001321759.2(CDIN1):c.59C>G (p.Pro20Arg) SNV Uncertain significance 692133 rs1595696464 15:36872120-36872120 15:36579919-36579919

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

73
# Symbol AA change Variation ID SNP ID
1 CDIN1 p.Tyr94Cys VAR_070876 rs587777101
2 CDIN1 p.Leu178Gln VAR_070877 rs587777100
3 CDIN1 p.Tyr94Ser VAR_082038 rs587777101
4 CDIN1 p.His230Pro VAR_082039

Expression for Anemia, Congenital Dyserythropoietic, Type Ib

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

Pathways for Anemia, Congenital Dyserythropoietic, Type Ib

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

# Super pathways Score Top Affiliating Genes
1 10.3 KLF1 GATA1

GO Terms for Anemia, Congenital Dyserythropoietic, Type Ib

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

# Name GO ID Score Top Affiliating Genes
1 acute-phase response GO:0006953 9.16 HP HAMP
2 cell volume homeostasis GO:0006884 8.96 KCNN4 AQP1
3 erythrocyte differentiation GO:0030218 8.8 KLF1 GATA1 CDIN1

Sources for Anemia, Congenital Dyserythropoietic, Type Ib

3 CDC
7 CNVD
9 Cosmic
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
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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