DBA18
MCID: DMN047
MIFTS: 19

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 57 12 72 29 6
Dba18 57 12 72
Rpl18-Related Diamond-Blackfan Anemia 12

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

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


HPO:

31
diamond-blackfan anemia 18:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111896
OMIM® 57 618310
OMIM Phenotypic Series 57 PS105650
MeSH 44 D029503

Summaries for Diamond-Blackfan Anemia 18

UniProtKB/Swiss-Prot : 72 Diamond-Blackfan anemia 18: A form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond- Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre- Robin syndrome and cleft palate), thumb and urogenital anomalies. DBA18 inheritance is autosomal dominant.

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 marrow and bone, and related phenotypes are neutropenia and erythroid hypoplasia

Disease Ontology : 12 A Diamond-Blackfan anemia that has material basis in heterozygous mutation in RPL18 on chromosome 19q13.33.

More information from OMIM: 618310 PS105650

Related Diseases for Diamond-Blackfan Anemia 18

Symptoms & Phenotypes for Diamond-Blackfan Anemia 18

Human phenotypes related to Diamond-Blackfan Anemia 18:

31
# Description HPO Frequency HPO Source Accession
1 neutropenia 31 very rare (1%) HP:0001875
2 erythroid hypoplasia 31 very rare (1%) HP:0012133
3 granulocytic hypoplasia 31 very rare (1%) HP:0012139
4 steroid-responsive anemia 31 very rare (1%) HP:0033074

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Immunology:
neutropenia

Laboratory Abnormalities:
increased erythroid adenosine deaminase (ada)

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

Clinical features from OMIM®:

618310 (Updated 20-May-2021)

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

Genetic tests related to Diamond-Blackfan Anemia 18:

# Genetic test Affiliating Genes
1 Diamond-Blackfan Anemia 18 29 RPL18

Anatomical Context for Diamond-Blackfan Anemia 18

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

40
Bone Marrow, Bone

Publications for Diamond-Blackfan Anemia 18

Articles related to Diamond-Blackfan Anemia 18:

# Title Authors PMID Year
1
Novel and known ribosomal causes of Diamond-Blackfan anaemia identified through comprehensive genomic characterisation. 57 6
28280134 2017

Variations for Diamond-Blackfan Anemia 18

ClinVar genetic disease variations for Diamond-Blackfan Anemia 18:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RPL18 NM_000979.4(RPL18):c.152T>C (p.Leu51Ser) SNV Pathogenic 617666 rs1568425218 GRCh37: 19:49120619-49120619
GRCh38: 19:48617362-48617362

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
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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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