DBA2
MCID: DMN005
MIFTS: 28

Diamond-Blackfan Anemia 2 (DBA2)

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

Aliases & Classifications for Diamond-Blackfan Anemia 2

MalaCards integrated aliases for Diamond-Blackfan Anemia 2:

Name: Diamond-Blackfan Anemia 2 57 12 20 13 15
Dba2 57 12 20
Anemia, Diamond-Blackfan, 2 44 70
Anemia Diamond-Blackfan 2 20

Classifications:



External Ids:

Disease Ontology 12 DOID:0111885
OMIM® 57 606129
OMIM Phenotypic Series 57 PS105650
MeSH 44 C536130
MedGen 41 C1853666
UMLS 70 C1853666

Summaries for Diamond-Blackfan Anemia 2

OMIM® : 57 Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by Landowski et al., 2013). For a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 (105650). (606129) (Updated 05-Apr-2021)

MalaCards based summary : Diamond-Blackfan Anemia 2, also known as dba2, is related to deficiency anemia and diamond-blackfan anemia. An important gene associated with Diamond-Blackfan Anemia 2 is DBA2 (Diamond-Blackfan Anemia 2). Affiliated tissues include bone marrow, brain and kidney.

Disease Ontology : 12 A Diamond-Blackfan anemia that has material basis in mutation in a region of chromosome 8p23.3-p22.

Related Diseases for Diamond-Blackfan Anemia 2

Graphical network of the top 20 diseases related to Diamond-Blackfan Anemia 2:



Diseases related to Diamond-Blackfan Anemia 2

Symptoms & Phenotypes for Diamond-Blackfan Anemia 2

Clinical features from OMIM®:

606129 (Updated 05-Apr-2021)

Drugs & Therapeutics for Diamond-Blackfan Anemia 2

Search Clinical Trials , NIH Clinical Center for Diamond-Blackfan Anemia 2

Cochrane evidence based reviews: anemia, diamond-blackfan, 2

Genetic Tests for Diamond-Blackfan Anemia 2

Anatomical Context for Diamond-Blackfan Anemia 2

MalaCards organs/tissues related to Diamond-Blackfan Anemia 2:

40
Bone Marrow, Brain, Kidney, Skin, T Cells, Bone, Cortex

Publications for Diamond-Blackfan Anemia 2

Articles related to Diamond-Blackfan Anemia 2:

(show top 50) (show all 239)
# Title Authors PMID Year
1
Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia. 57
23812780 2013
2
Evidence for linkage of familial Diamond-Blackfan anemia to chromosome 8p23.3-p22 and for non-19q non-8p disease. 57
11264183 2001
3
Transcorneal Electrical Stimulation Reduces Neurodegenerative Process in a Mouse Model of Glaucoma. 61
32974756 2021
4
Characterization of Novel Cross-Reactive Influenza B Virus Hemagglutinin Head Specific Antibodies That Lack Hemagglutination Inhibition Activity. 61
32907980 2020
5
Gene therapy with secreted acid alpha-glucosidase rescues Pompe disease in a novel mouse model with early-onset spinal cord and respiratory defects. 61
33039711 2020
6
Implications of increased S100β and Tau5 proteins in dystrophic nerves of two mdx mouse models for Duchenne muscular dystrophy. 61
32240725 2020
7
Sitagliptin ameliorates renal tubular injury in diabetic kidney disease via STAT3-dependent mitochondrial homeostasis through SDF-1α/CXCR4 pathway. 61
32281218 2020
8
Blocking matrix metalloproteinase-mediated syndecan-4 shedding restores the endothelial glycocalyx and glomerular filtration barrier function in early diabetic kidney disease. 61
32037077 2020
9
Diamond-Blackfan Anemia: 2 Cases With a Twist. 61
32118814 2020
10
Role of intrauterine administration of transfected peripheral blood mononuclear cells by GM-CSF on embryo implantation and pregnancy rate in mice. 61
31899496 2020
11
Effects of Six Sequential Charged Particle Beams on Behavioral and Cognitive Performance in B6D2F1 Female and Male Mice. 61
32982769 2020
12
Strains matter: Success of murine in vitro spermatogenesis is dependent on genetic background. 61
31421080 2019
13
Molecular Design of a New Diboronic Acid for the Electrohydrodynamic Monitoring of Glucose. 61
31168957 2019
14
Natural disease history of the D2-mdx mouse model for Duchenne muscular dystrophy. 61
30933664 2019
15
Effect of Bilastine on Diabetic Nephropathy in DBA2/J Mice. 61
31137660 2019
16
Combined Effects of Three High-Energy Charged Particle Beams Important for Space Flight on Brain, Behavioral and Cognitive Endpoints in B6D2F1 Female and Male Mice. 61
30914962 2019
17
Raf kinase inhibitor protein mediates myocardial fibrosis under conditions of enhanced myocardial oxidative stress. 61
30191336 2018
18
Detrimental Effects of Helium Ion Irradiation on Cognitive Performance and Cortical Levels of MAP-2 in B6D2F1 Mice. 61
29677125 2018
19
The Effects of Housing Density on Social Interactions and Their Correlations with Serotonin in Rodents and Primates. 61
29472615 2018
20
Histamine H4 receptor antagonism prevents the progression of diabetic nephropathy in male DBA2/J mice. 61
29309903 2018
21
Sensitivity to cocaine in adult mice is due to interplay between genetic makeup, early environment and later experience. 61
28729221 2017
22
Severe murine limb-girdle muscular dystrophy type 2C pathology is diminished by FTY720 treatment. 61
27935071 2017
23
Lipoxygenase Inhibitors Nordihydroguaiaretic Acid and Fungus Lecanicillum lecanii Extract Induce Death of Lymphoid Leukemia Cells. 61
28744653 2017
24
Pyruvate kinase M2 activation may protect against the progression of diabetic glomerular pathology and mitochondrial dysfunction. 61
28436957 2017
25
Dissociation of spontaneous seizures and brainstem seizure thresholds in mice exposed to eight flurothyl-induced generalized seizures. 61
28825051 2017
26
Increased thrombin generation in a mouse model of cancer cachexia is partially interleukin-6 dependent. 61
28058802 2017
27
Effects of Strain and Species on the Septo-Temporal Distribution of Adult Neurogenesis in Rodents. 61
29311796 2017
28
Efficacy of Resistance to Francisella Imparted by ITY/NRAMP/SLC11A1 Depends on Route of Infection. 61
28360906 2017
29
Sex- and dose-dependent effects of calcium ion irradiation on behavioral performance of B6D2F1 mice during contextual fear conditioning training. 61
27345201 2016
30
Adipose tissue Mest and Sfrp5 are concomitant with variations of adiposity among inbred mouse strains fed a non-obesogenic diet. 61
26005096 2016
31
Diet-induced obesity and kidney disease - In search of a susceptible mouse model. 61
26248309 2016
32
A Chromosome 13 locus is associated with male-specific mortality in mice. 61
25995165 2016
33
Mouse and Human Genetic Analyses Associate Kalirin with Ventral Striatal Activation during Impulsivity and with Alcohol Misuse. 61
27092175 2016
34
The Genetic Architecture of Murine Glutathione Transferases. 61
26829228 2016
35
The Combination of Marketed Antagonists of α1b-Adrenergic and 5-HT2A Receptors Inhibits Behavioral Sensitization and Preference to Alcohol in Mice: A Promising Approach for the Treatment of Alcohol Dependence. 61
26968030 2016
36
Decreased Energy Capacity and Increased Autophagic Activity in Optic Nerve Axons With Defective Anterograde Transport. 61
26720474 2015
37
Intrinsic Differences in Donor CD4 T Cell IL-2 Production Influence Severity of Parent-into-F1 Murine Lupus by Skewing the Immune Response Either toward Help for B Cells and a Sustained Autoantibody Response or toward Help for CD8 T Cells and a Downregulatory Th1 Response. 61
26320249 2015
38
Stability of an extemporaneously prepared bleomycin-lidocaine-epinephrine intradermal admixture used in dermatology. 61
24642451 2015
39
28Silicon Irradiation Impairs Contextual Fear Memory in B6D2F1 Mice. 61
26010712 2015
40
Alleviating waiting impulsivity and perseverative responding by μ-opioid receptor antagonism in two inbred mouse strains. 61
25381183 2015
41
Functional alterations in the dorsal raphe nucleus following acute and chronic ethanol exposure. 61
25120075 2015
42
Biochemical and Functional Comparisons of mdx and Sgcg(-/-) Muscular Dystrophy Mouse Models. 61
26064876 2015
43
Exaggerated waiting impulsivity associated with human binge drinking, and high alcohol consumption in mice. 61
24947901 2014
44
Repeated ethanol exposure during early and late adolescence: double dissociation of effects on waiting and choice impulsivity. 61
25346503 2014
45
Differential effect of artemisinin against cancer cell lines. 61
24955301 2014
46
Differential role of all-trans retinoic acid in promoting the development of CD4+ and CD8+ regulatory T cells. 61
24082012 2014
47
Inhibition of Src kinase blocks high glucose-induced EGFR transactivation and collagen synthesis in mesangial cells and prevents diabetic nephropathy in mice. 61
23942551 2013
48
Intermittent versus continuous central administration of clozapine in DBA/2 mice, improvement in sensory inhibition deficits. 61
23863771 2013
49
Role of adrenal glucocorticoid signaling in prefrontal cortex gene expression and acute behavioral responses to ethanol. 61
22671426 2013
50
Ethanol regulation of serum glucocorticoid kinase 1 expression in DBA2/J mouse prefrontal cortex. 61
23991167 2013

Variations for Diamond-Blackfan Anemia 2

Expression for Diamond-Blackfan Anemia 2

Search GEO for disease gene expression data for Diamond-Blackfan Anemia 2.

Pathways for Diamond-Blackfan Anemia 2

GO Terms for Diamond-Blackfan Anemia 2

Biological processes related to Diamond-Blackfan Anemia 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 smoothened signaling pathway GO:0007224 8.62 RO60 EVC

Sources for Diamond-Blackfan Anemia 2

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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