CDAN1B
MCID: ANM049
MIFTS: 38

Anemia, Congenital Dyserythropoietic, Type Ib (CDAN1B)

Categories: Blood diseases, Bone diseases, Fetal 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 56 71
Congenital Dyserythropoietic Anemia Type Ib 12 73 15
Cdan1b 56 12 73
Congenital Dyserythropoietic Anemia Type Type 1b 29 6
Cda, Type Ib 56 12
Anemia, Dyserythropoietic, Congenital, Type Ib 39
Dyserythropoietic Anemia, Congenital, Type Ib 56
Anemia, Congenital Dyserythropoietic, 1b 73
Anemia, Dyserythropoietic, Congenital 43
Cda Ib 73

Characteristics:

OMIM:

56
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 56 615631
OMIM Phenotypic Series 56 PS224120
MeSH 43 D000742
SNOMED-CT 67 59548005
UMLS 71 C0271933 C3810185

Summaries for Anemia, Congenital Dyserythropoietic, Type Ib

OMIM : 56 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)

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 and bone marrow, 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 32.1 SEC23B KLF1 KIF23 CDIN1 CDAN1
2 anemia, congenital dyserythropoietic, type iv 31.1 SEC23B KLF1 KIF23 GATA1 CDIN1 CDAN1
3 anemia, congenital dyserythropoietic, type ia 30.6 SEC23B KLF1 KIF23 HAMP GATA1 CDIN1
4 congenital dyserythropoietic anemia 30.1 SEC23B KLF1 KIF23 HAMP GATA1 CDIN1
5 neonatal anemia 10.3 KLF1 CDIN1
6 acrodysostosis 10.2 CDIN1 CDAN1
7 erythroleukemia, familial 10.2 KLF1 GATA1
8 thrombocytopenia with beta-thalassemia, x-linked 10.2 KLF1 GATA1
9 spherocytosis, type 2 10.2 KLF1 GATA1
10 spherocytosis, type 4 10.1 KLF1 GATA1
11 spherocytosis, type 3 10.1 KLF1 GATA1
12 retinohepatoendocrinologic syndrome 10.1 KCNN4 AQP1
13 congenital nonspherocytic hemolytic anemia 10.1 G6PD CDIN1
14 pyruvate kinase deficiency of red cells 10.0 G6PD CDIN1
15 hypotrichosis 2 9.9 KLF1 GATA1
16 priapism 9.9 HP AQP1
17 trimethoprim allergy 9.9 HP G6PD
18 blackwater fever 9.9 HP G6PD
19 diamond-blackfan anemia 9.8 SEC23B KLF1 KCNN4 GATA1
20 sickle cell disease 9.8 KCNN4 G6PD
21 glucosephosphate dehydrogenase deficiency 9.8 HP G6PD
22 anemia, nonspherocytic hemolytic, due to g6pd deficiency 9.8 HP G6PD
23 anemia, autoimmune hemolytic 9.7 HP G6PD
24 methemoglobinemia 9.6 HP G6PD
25 anemia, congenital dyserythropoietic, type iii 9.5 SEC23B KLF1 KIF23 GATA1 CDIN1 CDAN1
26 hemoglobin h disease 9.4 HAMP G6PD AK1
27 alpha-thalassemia 9.4 KLF1 HP GATA1 G6PD
28 hemolytic anemia 9.2 KLF1 KCNN4 HP G6PD AK1
29 beta-thalassemia 9.2 KLF1 HAMP GATA1 G6PD
30 iron metabolism disease 9.2 HAMP G6PD
31 hemoglobinopathy 9.1 KLF1 HP HAMP G6PD
32 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 9.0 HP HAMP GATA1 G6PD
33 deficiency anemia 9.0 HP HAMP GATA1 G6PD
34 hereditary spherocytosis 8.9 SEC23B KLF1 HP GATA1 G6PD AQP1
35 thalassemia 8.8 KLF1 HP HAMP GATA1 G6PD
36 congenital hemolytic anemia 8.4 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 poikilocytosis 31 HP:0004447
11 anisocytosis 31 HP:0011273
12 erythroid hyperplasia 31 HP:0012132

Symptoms via clinical synopsis from OMIM:

56
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:
poikilocytosis
anisocytosis
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

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

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, Bone Marrow

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. 6 56
23716552 2013
2
Evidence of genetic heterogeneity in congenital dyserythropoietic anaemia type I. 56 6
16643456 2006
3
Non-haematological traits associated with congenital dyserythropoietic anaemia type 1: a new entity emerging. 56 6
9220189 1997
4
Congenital Dyserythropoietic Anemia Type I 6
20301759 2009
5
Linkage and mutational analysis of the CDAN1 gene reveals genetic heterogeneity in congenital dyserythropoietic anemia type I. 56
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 15:36950041-36950041 15:36657840-36657840
2 CDIN1 NM_001321759.2(CDIN1):c.689A>C (p.His230Pro)SNV Likely pathogenic 692135 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 15:37002153-37002153 15:36709952-36709952
6 CDIN1 NM_001321759.2(CDIN1):c.59C>G (p.Pro20Arg)SNV Uncertain significance 692133 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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