DBA13
MCID: DMN030
MIFTS: 23

Diamond-Blackfan Anemia 13 (DBA13)

Categories: Blood diseases, Bone diseases, Cancer diseases, Fetal diseases, Genetic diseases, Immune diseases, Metabolic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Diamond-Blackfan Anemia 13

MalaCards integrated aliases for Diamond-Blackfan Anemia 13:

Name: Diamond-Blackfan Anemia 13 57 11 73 28 5 14 71
Dba13 57 11 73
Rps29-Related Diamond-Blackfan Anemia 11
Anemia, Diamond-Blackfan, Type 13 38

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
variable expressivity
onset in childhood
incomplete penetrance
one family and an unrelated patient have been reported (last curated july 2014)
no dysmorphic features
most cases are responsive to steroids


HPO:

30
diamond-blackfan anemia 13:
Onset and clinical course variable expressivity


Classifications:



External Ids:

Disease Ontology 11 DOID:0111889
OMIM® 57 615909
OMIM Phenotypic Series 57 PS105650
MeSH 43 D029503
SNOMED-CT via HPO 69 300980002
UMLS 71 C4014641

Summaries for Diamond-Blackfan Anemia 13

UniProtKB/Swiss-Prot: 73 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). Affiliated tissues include bone marrow, bone and blood and bone marrow, and related phenotypes are normocytic anemia and elevated red cell adenosine deaminase level

Disease Ontology: 11 A Diamond-Blackfan anemia that has material basis in heterozygous mutation in RPS29 on chromosome 14q21.3.

More information from OMIM: 615909 PS105650

Symptoms & Phenotypes for Diamond-Blackfan Anemia 13

Human phenotypes related to Diamond-Blackfan Anemia 13:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 normocytic anemia 30 HP:0001897
2 elevated red cell adenosine deaminase level 30 HP:0030270

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Hematology:
normocytic anemia

Laboratory Abnormalities:
elevated erythrocyte adenosine deaminase

Neoplasia:
possibly increased risk of cancer

Clinical features from OMIM®:

615909 (Updated 08-Dec-2022)

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 28 RPS29

Anatomical Context for Diamond-Blackfan Anemia 13

Organs/tissues related to Diamond-Blackfan Anemia 13:

MalaCards : Bone Marrow, Bone
ODiseA: Blood And Bone Marrow

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 5
24829207 2014
2
Visual and auditory neurotoxicity in patients receiving subcutaneous deferoxamine infusions. 62
3485251 1986

Variations for Diamond-Blackfan Anemia 13

ClinVar genetic disease variations for Diamond-Blackfan Anemia 13:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RPS29 NM_001032.5(RPS29):c.91A>T (p.Ile31Phe) SNV Pathogenic
140738 rs587777568 GRCh37: 14:50052739-50052739
GRCh38: 14:49586021-49586021
2 RPS29 NM_001032.5(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:

73
# 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

Molecular functions related to Diamond-Blackfan Anemia 13 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 zinc ion binding GO:0008270 8.92 RPS29 ALPP

Sources for Diamond-Blackfan Anemia 13

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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