DBA13
MCID: DMN030
MIFTS: 19

Diamond-Blackfan Anemia 13 (DBA13)

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

Aliases & Classifications for Diamond-Blackfan Anemia 13

MalaCards integrated aliases for Diamond-Blackfan Anemia 13:

Name: Diamond-Blackfan Anemia 13 57 12 72 29 6 70
Dba13 57 12 72
Rps29-Related Diamond-Blackfan Anemia 12
Anemia, Diamond-Blackfan, Type 13 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
variable expressivity
incomplete penetrance
onset in childhood
one family and an unrelated patient have been reported (last curated july 2014)
no dysmorphic features
most cases are responsive to steroids

Inheritance:
autosomal dominant


HPO:

31
diamond-blackfan anemia 13:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity incomplete penetrance childhood onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0111889
OMIM® 57 615909
OMIM Phenotypic Series 57 PS105650
MeSH 44 D029503
SNOMED-CT via HPO 68 263681008 300980002
UMLS 70 C4014641

Summaries for Diamond-Blackfan Anemia 13

UniProtKB/Swiss-Prot : 72 Diamond-Blackfan anemia 13: 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.

MalaCards based summary : Diamond-Blackfan Anemia 13, is also known as dba13. An important gene associated with Diamond-Blackfan Anemia 13 is RPS29 (Ribosomal Protein S29). Related phenotypes are normocytic anemia and elevated red cell adenosine deaminase level

Disease Ontology : 12 A Diamond-Blackfan anemia that has material basis in heterozygous mutation in RPS29 on chromosome 14q21.3.

More information from OMIM: 615909 PS105650

Related Diseases for Diamond-Blackfan Anemia 13

Symptoms & Phenotypes for Diamond-Blackfan Anemia 13

Human phenotypes related to Diamond-Blackfan Anemia 13:

31
# Description HPO Frequency HPO Source Accession
1 normocytic anemia 31 HP:0001897
2 elevated red cell adenosine deaminase level 31 HP:0030270

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Hematology:
normocytic anemia

Laboratory Abnormalities:
elevated erythrocyte adenosine deaminase

Neoplasia:
possibly increased risk of cancer

Clinical features from OMIM®:

615909 (Updated 05-Apr-2021)

Drugs & Therapeutics for Diamond-Blackfan Anemia 13

Search Clinical Trials , NIH Clinical Center for Diamond-Blackfan Anemia 13

Genetic Tests for Diamond-Blackfan Anemia 13

Genetic tests related to Diamond-Blackfan Anemia 13:

# Genetic test Affiliating Genes
1 Diamond-Blackfan Anemia 13 29 RPS29

Anatomical Context for Diamond-Blackfan Anemia 13

Publications for Diamond-Blackfan Anemia 13

Articles related to Diamond-Blackfan Anemia 13:

# Title Authors PMID Year
1
Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families. 57 6
24829207 2014
2
Visual and auditory neurotoxicity in patients receiving subcutaneous deferoxamine infusions. 61
3485251 1986

Variations for Diamond-Blackfan Anemia 13

ClinVar genetic disease variations for Diamond-Blackfan Anemia 13:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RPS29 NM_001030001.4(RPS29):c.91A>T (p.Ile31Phe) SNV Pathogenic 140738 rs587777568 GRCh37: 14:50052739-50052739
GRCh38: 14:49586021-49586021
2 RPS29 NM_001030001.4(RPS29):c.149T>C (p.Ile50Thr) SNV Likely pathogenic 140739 rs587777569 GRCh37: 14:50052681-50052681
GRCh38: 14:49585963-49585963
3 RPS29 NM_001032.5(RPS29):c.63-6T>G SNV Uncertain significance 813931 rs1594573747 GRCh37: 14:50052773-50052773
GRCh38: 14:49586055-49586055

UniProtKB/Swiss-Prot genetic disease variations for Diamond-Blackfan Anemia 13:

72
# Symbol AA change Variation ID SNP ID
1 RPS29 p.Ile31Phe VAR_071328 rs587777568
2 RPS29 p.Ile50Thr VAR_071329 rs587777569

Expression for Diamond-Blackfan Anemia 13

Search GEO for disease gene expression data for Diamond-Blackfan Anemia 13.

Pathways for Diamond-Blackfan Anemia 13

GO Terms for Diamond-Blackfan Anemia 13

Sources for Diamond-Blackfan Anemia 13

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