DBA20
MCID: DMN049
MIFTS: 12

Diamond-Blackfan Anemia 20 (DBA20)

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

Aliases & Classifications for Diamond-Blackfan Anemia 20

MalaCards integrated aliases for Diamond-Blackfan Anemia 20:

Name: Diamond-Blackfan Anemia 20 58 6
Dba20 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
onset in the first year of life
one family has been reported (last curated february 2019)


Classifications:



External Ids:

OMIM 58 618313

Summaries for Diamond-Blackfan Anemia 20

MalaCards based summary : Diamond-Blackfan Anemia 20, is also known as dba20. An important gene associated with Diamond-Blackfan Anemia 20 is RPS15A (Ribosomal Protein S15a). Affiliated tissues include bone and bone marrow.

Description from OMIM: 618313

Related Diseases for Diamond-Blackfan Anemia 20

Symptoms & Phenotypes for Diamond-Blackfan Anemia 20

Symptoms via clinical synopsis from OMIM:

58
Hematology:
anemia, steroid-responsive
bone marrow shows erythroid hypoplasia

Clinical features from OMIM:

618313

Drugs & Therapeutics for Diamond-Blackfan Anemia 20

Search Clinical Trials , NIH Clinical Center for Diamond-Blackfan Anemia 20

Genetic Tests for Diamond-Blackfan Anemia 20

Anatomical Context for Diamond-Blackfan Anemia 20

MalaCards organs/tissues related to Diamond-Blackfan Anemia 20:

42
Bone, Bone Marrow

Publications for Diamond-Blackfan Anemia 20

Variations for Diamond-Blackfan Anemia 20

ClinVar genetic disease variations for Diamond-Blackfan Anemia 20:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RPS15A NM_001019.5(RPS15A): c.213G> A (p.Lys71=) single nucleotide variant Pathogenic GRCh38 Chromosome 16, 18788063: 18788063
2 RPS15A NM_001019.5(RPS15A): c.213G> A (p.Lys71=) single nucleotide variant Pathogenic GRCh37 Chromosome 16, 18799385: 18799385

Expression for Diamond-Blackfan Anemia 20

Search GEO for disease gene expression data for Diamond-Blackfan Anemia 20.

Pathways for Diamond-Blackfan Anemia 20

GO Terms for Diamond-Blackfan Anemia 20

Sources for Diamond-Blackfan Anemia 20

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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