DBA2
MCID: DMN005
MIFTS: 23

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 53 13
Dba2 57 53
Anemia, Diamond-Blackfan, 2 73
Anemia Diamond-Blackfan 2 53

Classifications:



External Ids:

OMIM 57 606129
MedGen 42 C1853666
UMLS 73 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)

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

Related Diseases for Diamond-Blackfan Anemia 2

Symptoms & Phenotypes for Diamond-Blackfan Anemia 2

Clinical features from OMIM:

606129

Drugs & Therapeutics for Diamond-Blackfan Anemia 2

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

Genetic Tests for Diamond-Blackfan Anemia 2

Anatomical Context for Diamond-Blackfan Anemia 2

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

41
Bone, Heart, Bone Marrow, Brain

Publications for Diamond-Blackfan Anemia 2

Articles related to Diamond-Blackfan Anemia 2:

(show all 15)
# Title Authors Year
1
Histamine H4 receptor antagonism prevents the progression of diabetic nephropathy in male DBA2/J mice. ( 29309903 )
2018
2
Alcohol, cocaine, and brain stimulation-reward in C57Bl6/J and DBA2/J mice. ( 19860803 )
2010
3
Sweet and bitter taste of ethanol in C57BL/6J and DBA2/J mouse strains. ( 17096193 )
2007
4
Differential microbial clearance and immunoresponse of Balb/c (Nramp1 susceptible) and DBA2 (Nramp1 resistant) mice intracerebrally infected with Mycobacterium bovis BCG (BCG). ( 11821237 )
2002
5
Antitumorigenic Evaluation of Thalidomide Alone and in Combination with Cisplatin in DBA2/J Mice. ( 12488594 )
2002
6
Acetaminophen produces cataract in DBA2 mice by Ah receptor-independent induction of CYP1A2. ( 10977129 )
2000
7
Cytotoxic metabolite of acetaminophen, N-acetyl-p-benzoquinone imine, produces cataract in DBA2 mice. ( 10609776 )
1999
8
Expression of ecotropic murine leukemia virus in the brains of C58/M, DBA2/J, and in utero-infected CE/J mice. ( 7494328 )
1995
9
Anti-Mlsa-like effect of CBA/J anti DBA2 antibody in in vitro MLRs between Mls incompatible combinations. ( 8349313 )
1993
10
N-(2-hydroxypropyl)methacrylamide copolymers targeted to the hepatocyte galactose-receptor: pharmacokinetics in DBA2 mice. ( 1648946 )
1991
11
Quantitative morphological analysis of hippocampal structures in DBA1 and DBA2 inbred mice strains with genetically determined different shuttle box behavior: the mossy fiber system with reference data to the C3H strain. ( 1791302 )
1991
12
Characterization of L5178Y cell phenotypes isolated during progression of the tumor-dormant state in DBA2 mice. ( 6609767 )
1984
13
Response of CBA/N x DBA2/F1 mice to Nocardia asteroides. ( 7033133 )
1982
14
Determination of daunorubicin, doxorubicin and their fluorescent metabolites by high-pressure liquid chromatography: plasma levels in DBA2 mice. ( 498412 )
1979
15
The specific cytotoxic effect of DBA2 mouse DNA on L1210 leukemia. ( 5712278 )
1968

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

Sources for Diamond-Blackfan Anemia 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....