MCID: DMN005
MIFTS: 16

Diamond-Blackfan Anemia 2

Categories: Rare diseases, Genetic diseases, Metabolic diseases, Fetal diseases, Blood 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. An important gene associated with Diamond-Blackfan Anemia 2 is DBA2 (Diamond-Blackfan Anemia 2). Affiliated tissues include heart, bone 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
Heart, Bone, Bone Marrow

Publications for Diamond-Blackfan Anemia 2

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....