DBAL
MCID: DMN045
MIFTS: 25

Diamond-Blackfan Anemia-Like (DBAL)

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

Aliases & Classifications for Diamond-Blackfan Anemia-Like

MalaCards integrated aliases for Diamond-Blackfan Anemia-Like:

Name: Diamond-Blackfan Anemia-Like 57 72 29 6
Dbal 57 72

Characteristics:

OMIM®:

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

Miscellaneous:
onset in infancy
favorable response to treatment with recombinant epo
one consanguineous turkish family has been reported (last curated march 2018)


HPO:

31
diamond-blackfan anemia-like:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

OMIM® 57 617911
MeSH 44 D029503
SNOMED-CT via HPO 68 258211005 50715003

Summaries for Diamond-Blackfan Anemia-Like

UniProtKB/Swiss-Prot : 72 Diamond-Blackfan anemia-like: An autosomal recessive hematologic disease characterized by severe red cell hypoplastic anemia, selective absence of red cell precursors and progenitors seen on bone marrow biopsy, and increased serum erythropoietin.

MalaCards based summary : Diamond-Blackfan Anemia-Like, also known as dbal, is related to diamond-blackfan anemia and pancytopenia. An important gene associated with Diamond-Blackfan Anemia-Like is EPO (Erythropoietin), and among its related pathways/superpathways is Hematopoietic Stem Cell Differentiation. Affiliated tissues include bone marrow, bone and liver, and related phenotypes are pure red cell aplasia and steroid-responsive anemia

More information from OMIM: 617911

Related Diseases for Diamond-Blackfan Anemia-Like

Graphical network of the top 20 diseases related to Diamond-Blackfan Anemia-Like:



Diseases related to Diamond-Blackfan Anemia-Like

Symptoms & Phenotypes for Diamond-Blackfan Anemia-Like

Human phenotypes related to Diamond-Blackfan Anemia-Like:

31
# Description HPO Frequency HPO Source Accession
1 pure red cell aplasia 31 very rare (1%) HP:0012410
2 steroid-responsive anemia 31 very rare (1%) HP:0033074

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Hematology:
anemia, red cell, hypoplastic
selective absence of red cell precursors and progenitors seen on bone marrow biopsy

Laboratory Abnormalities:
increased serum erythropoietin (epo)

Clinical features from OMIM®:

617911 (Updated 05-Apr-2021)

Drugs & Therapeutics for Diamond-Blackfan Anemia-Like

Search Clinical Trials , NIH Clinical Center for Diamond-Blackfan Anemia-Like

Genetic Tests for Diamond-Blackfan Anemia-Like

Genetic tests related to Diamond-Blackfan Anemia-Like:

# Genetic test Affiliating Genes
1 Diamond-Blackfan Anemia-Like 29 EPO

Anatomical Context for Diamond-Blackfan Anemia-Like

MalaCards organs/tissues related to Diamond-Blackfan Anemia-Like:

40
Bone Marrow, Bone, Liver

Publications for Diamond-Blackfan Anemia-Like

Articles related to Diamond-Blackfan Anemia-Like:

# Title Authors PMID Year
1
Functional Selectivity in Cytokine Signaling Revealed Through a Pathogenic EPO Mutation. 57 6
28283061 2017
2
Active Learning for Estimating Reachable Sets for Systems With Unknown Dynamics. 61
32697724 2020
3
Occurrence and spatio-temporal variability of halogenated acetaldehydes in full-scale drinking water systems. 61
31362219 2019
4
Evaluation of the mass transfer rate using computer simulation in a three-dimensional interwoven hollow fiber-type bioartificial liver. 61
30264297 2018
5
Occurrence and Comparative Toxicity of Haloacetaldehyde Disinfection Byproducts in Drinking Water. 61
25942416 2015
6
Hierarchical structures and complexities of parallel isometric languages. 61
21869090 1983

Variations for Diamond-Blackfan Anemia-Like

ClinVar genetic disease variations for Diamond-Blackfan Anemia-Like:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 EPO NM_000799.4(EPO):c.530G>A (p.Arg177Gln) SNV Pathogenic 496595 rs1358275550 GRCh37: 7:100320704-100320704
GRCh38: 7:100723081-100723081
2 IKZF1 NM_006060.6(IKZF1):c.1267C>T (p.Arg423Cys) SNV Pathogenic 988782 rs757907717 GRCh37: 7:50468032-50468032
GRCh38: 7:50400334-50400334

UniProtKB/Swiss-Prot genetic disease variations for Diamond-Blackfan Anemia-Like:

72
# Symbol AA change Variation ID SNP ID
1 EPO p.Arg177Gln VAR_078447 rs135827555

Expression for Diamond-Blackfan Anemia-Like

Search GEO for disease gene expression data for Diamond-Blackfan Anemia-Like.

Pathways for Diamond-Blackfan Anemia-Like

Pathways related to Diamond-Blackfan Anemia-Like according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.3 IKZF1 EPO

GO Terms for Diamond-Blackfan Anemia-Like

Biological processes related to Diamond-Blackfan Anemia-Like according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 erythrocyte differentiation GO:0030218 8.62 IKZF1 EPO

Sources for Diamond-Blackfan Anemia-Like

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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