CDAN1B
MCID: ANM049
MIFTS: 26

Anemia, Congenital Dyserythropoietic, Type Ib (CDAN1B)

Categories: Blood diseases, Bone diseases, Fetal diseases, Genetic diseases, Immune diseases, Liver 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 58 30 6 74
Cdan1b 58 76
Anemia, Dyserythropoietic, Congenital, Type Ib 41
Dyserythropoietic Anemia, Congenital, Type Ib 58
Congenital Dyserythropoietic Anemia Type Ib 76
Anemia, Congenital Dyserythropoietic, 1b 76
Cda, Type Ib 58
Cda Ib 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
anemia, congenital dyserythropoietic, type ib:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Anemia, Congenital Dyserythropoietic, Type Ib

OMIM : 58 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, is also known as cdan1b, and has symptoms including icterus An important gene associated with Anemia, Congenital Dyserythropoietic, Type Ib is C15orf41 (Chromosome 15 Open Reading Frame 41). Affiliated tissues include bone, bone marrow and liver, and related phenotypes are short stature and small nail

UniProtKB/Swiss-Prot : 76 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

Symptoms & Phenotypes for Anemia, Congenital Dyserythropoietic, Type Ib

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

33 (show all 12)
# Description HPO Frequency HPO Source Accession
1 short stature 33 occasional (7.5%) HP:0004322
2 small nail 33 occasional (7.5%) HP:0001792
3 syndactyly 33 occasional (7.5%) HP:0001159
4 splenomegaly 33 HP:0001744
5 hepatomegaly 33 HP:0002240
6 pallor 33 HP:0000980
7 jaundice 33 HP:0000952
8 reticulocytosis 33 HP:0001923
9 poikilocytosis 33 HP:0004447
10 anisocytosis 33 HP:0011273
11 anemia of inadequate production 33 HP:0010972
12 erythroid hyperplasia 33 HP:0012132

Symptoms via clinical synopsis from OMIM:

58
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

Drugs & Therapeutics for Anemia, Congenital Dyserythropoietic, Type Ib

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

Genetic Tests for Anemia, Congenital Dyserythropoietic, Type Ib

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

# Genetic test Affiliating Genes
1 Anemia, Congenital Dyserythropoietic, Type Ib 30 C15orf41

Anatomical Context for Anemia, Congenital Dyserythropoietic, Type Ib

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

42
Bone, Bone Marrow, Liver

Publications for Anemia, Congenital Dyserythropoietic, Type Ib

Articles related to Anemia, Congenital Dyserythropoietic, Type Ib:

# Title Authors Year
1
Homozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anemia type I. ( 23716552 )
2013
2
Evidence of genetic heterogeneity in congenital dyserythropoietic anaemia type I. ( 16643456 )
2006
3
Non-haematological traits associated with congenital dyserythropoietic anaemia type 1: a new entity emerging. ( 9220189 )
1997

Variations for Anemia, Congenital Dyserythropoietic, Type Ib

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

76
# Symbol AA change Variation ID SNP ID
1 C15orf41 p.Tyr94Cys VAR_070876 rs587777101
2 C15orf41 p.Leu178Gln VAR_070877 rs587777100

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 C15orf41 NM_001130010.2(C15orf41): c.533T> A (p.Leu178Gln) single nucleotide variant Pathogenic rs587777100 GRCh37 Chromosome 15, 36989580: 36989580
2 C15orf41 NM_001130010.2(C15orf41): c.533T> A (p.Leu178Gln) single nucleotide variant Pathogenic rs587777100 GRCh38 Chromosome 15, 36697379: 36697379
3 C15orf41 NM_001130010.2(C15orf41): c.281A> G (p.Tyr94Cys) single nucleotide variant Pathogenic rs587777101 GRCh37 Chromosome 15, 36950041: 36950041
4 C15orf41 NM_001130010.2(C15orf41): c.281A> G (p.Tyr94Cys) single nucleotide variant Pathogenic rs587777101 GRCh38 Chromosome 15, 36657840: 36657840

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

GO Terms for Anemia, Congenital Dyserythropoietic, Type Ib

Sources for Anemia, Congenital Dyserythropoietic, Type Ib

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