DBA20
MCID: DMN049
MIFTS: 31

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 57 12 73 29 6 15
Dba20 57 12 73
Rps15a-Related Diamond-Blackfan Anemia 12

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

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


HPO:

31
diamond-blackfan anemia 20:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111891
OMIM® 57 618313
OMIM Phenotypic Series 57 PS105650
MeSH 44 D029503

Summaries for Diamond-Blackfan Anemia 20

UniProtKB/Swiss-Prot : 73 Diamond-Blackfan anemia 20: 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. DBA20 inheritance is autosomal dominant.

MalaCards based summary : Diamond-Blackfan Anemia 20, also known as dba20, is related to gm2-gangliosidosis, ab variant and phosphatase, acid, of tissues. An important gene associated with Diamond-Blackfan Anemia 20 is RPS15A (Ribosomal Protein S15a), and among its related pathways/superpathways are Translational Control and EGF/EGFR Signaling Pathway. Affiliated tissues include bone marrow and bone, and related phenotypes are anemia and acetabular dysplasia

Disease Ontology : 12 A Diamond-Blackfan anemia that has material basis in heterozygous mutation in RPS15A on chromosome 16p12.3.

More information from OMIM: 618313 PS105650

Related Diseases for Diamond-Blackfan Anemia 20

Graphical network of the top 20 diseases related to Diamond-Blackfan Anemia 20:



Diseases related to Diamond-Blackfan Anemia 20

Symptoms & Phenotypes for Diamond-Blackfan Anemia 20

Human phenotypes related to Diamond-Blackfan Anemia 20:

31
# Description HPO Frequency HPO Source Accession
1 anemia 31 very rare (1%) HP:0001903
2 acetabular dysplasia 31 very rare (1%) HP:0008807
3 total anomalous pulmonary venous return 31 very rare (1%) HP:0005160
4 erythroid hypoplasia 31 HP:0012133

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Hematology:
anemia, steroid-responsive
bone marrow shows erythroid hypoplasia

Clinical features from OMIM®:

618313 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Diamond-Blackfan Anemia 20:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.17 CTSB KCNIP3 LAMP2 MAP2K1 SQSTM1 STK11

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

Genetic tests related to Diamond-Blackfan Anemia 20:

# Genetic test Affiliating Genes
1 Diamond-Blackfan Anemia 20 29 RPS15A

Anatomical Context for Diamond-Blackfan Anemia 20

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

40
Bone Marrow, Bone

Publications for Diamond-Blackfan Anemia 20

Articles related to Diamond-Blackfan Anemia 20:

# Title Authors PMID Year
1
Exome sequencing identified RPS15A as a novel causative gene for Diamond-Blackfan anemia. 6 57
27909223 2017

Variations for Diamond-Blackfan Anemia 20

ClinVar genetic disease variations for Diamond-Blackfan Anemia 20:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RPS15A NM_001019.5(RPS15A):c.213G>A (p.Lys71=) SNV Pathogenic 617665 rs1567287990 16:18799385-18799385 16:18788063-18788063

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

Cellular components related to Diamond-Blackfan Anemia 20 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.8 STK11 SQSTM1 RPS15A RAB5A LAMP2 CTSB
2 cytosol GO:0005829 9.61 TFEB STK11 SQSTM1 RRM2 RPS6KB1 RPS15A
3 lysosome GO:0005764 9.46 TFEB SQSTM1 LAMP2 CTSB
4 late endosome GO:0005770 9.43 SQSTM1 MAP2K1 LAMP2
5 autolysosome GO:0044754 8.62 SQSTM1 LAMP2

Biological processes related to Diamond-Blackfan Anemia 20 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 apoptotic process GO:0006915 9.56 STK11 SQSTM1 RPS6KB1 KCNIP3
2 protein phosphorylation GO:0006468 9.26 STK11 SQSTM1 RPS6KB1 MAP2K1
3 positive regulation of axonogenesis GO:0050772 9.16 STK11 MAP2K1
4 autophagy GO:0006914 8.92 TFEB STK11 SQSTM1 LAMP2

Molecular functions related to Diamond-Blackfan Anemia 20 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein serine/threonine/tyrosine kinase activity GO:0004712 8.96 RPS6KB1 MAP2K1
2 protein serine/threonine kinase activity GO:0004674 8.92 STK11 SQSTM1 RPS6KB1 MAP2K1

Sources for Diamond-Blackfan Anemia 20

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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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