DBA18
MCID: DMN047
MIFTS: 14

Diamond-Blackfan Anemia 18 (DBA18)

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

Aliases & Classifications for Diamond-Blackfan Anemia 18

MalaCards integrated aliases for Diamond-Blackfan Anemia 18:

Name: Diamond-Blackfan Anemia 18 58 6
Dba18 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


Classifications:



External Ids:

OMIM 58 618310

Summaries for Diamond-Blackfan Anemia 18

MalaCards based summary : Diamond-Blackfan Anemia 18, is also known as dba18. An important gene associated with Diamond-Blackfan Anemia 18 is RPL18 (Ribosomal Protein L18). Affiliated tissues include bone, bone marrow and neutrophil.

Description from OMIM: 618310

Related Diseases for Diamond-Blackfan Anemia 18

Symptoms & Phenotypes for Diamond-Blackfan Anemia 18

Symptoms via clinical synopsis from OMIM:

58
Immunology:
neutropenia

Laboratory Abnormalities:
increased erythroid adenosine deaminase (ada)

Hematology:
anemia, steroid-responsive
bone marrow shows erythroid hypoplasia
maturation arrest of the erythroid series
granulocytopenia
neutrophilic hypoplasia

Clinical features from OMIM:

618310

Drugs & Therapeutics for Diamond-Blackfan Anemia 18

Search Clinical Trials , NIH Clinical Center for Diamond-Blackfan Anemia 18

Genetic Tests for Diamond-Blackfan Anemia 18

Anatomical Context for Diamond-Blackfan Anemia 18

MalaCards organs/tissues related to Diamond-Blackfan Anemia 18:

42
Bone, Bone Marrow, Neutrophil

Publications for Diamond-Blackfan Anemia 18

Variations for Diamond-Blackfan Anemia 18

ClinVar genetic disease variations for Diamond-Blackfan Anemia 18:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RPL18 NM_000979.4(RPL18): c.152T> C (p.Leu51Ser) single nucleotide variant Pathogenic GRCh38 Chromosome 19, 48617362: 48617362
2 RPL18 NM_000979.4(RPL18): c.152T> C (p.Leu51Ser) single nucleotide variant Pathogenic GRCh37 Chromosome 19, 49120619: 49120619

Expression for Diamond-Blackfan Anemia 18

Search GEO for disease gene expression data for Diamond-Blackfan Anemia 18.

Pathways for Diamond-Blackfan Anemia 18

GO Terms for Diamond-Blackfan Anemia 18

Sources for Diamond-Blackfan Anemia 18

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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