MCID: DMN030
MIFTS: 15

Diamond-Blackfan Anemia 13

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

Aliases & Classifications for Diamond-Blackfan Anemia 13

MalaCards integrated aliases for Diamond-Blackfan Anemia 13:

Name: Diamond-Blackfan Anemia 13 53 71 28 69
Dba13 53 71

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

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


HPO:

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


Classifications:



External Ids:

OMIM 53 615909
MeSH 41 D029503
SNOMED-CT via HPO 65 263681008 300980002
UMLS 69 C4014641

Summaries for Diamond-Blackfan Anemia 13

UniProtKB/Swiss-Prot : 71 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, and has symptoms including normocytic anemia and elevated red cell adenosine deaminase activity. An important gene associated with Diamond-Blackfan Anemia 13 is RPS29 (Ribosomal Protein S29).

Description from OMIM: 615909

Related Diseases for Diamond-Blackfan Anemia 13

Symptoms & Phenotypes for Diamond-Blackfan Anemia 13

Symptoms via clinical synopsis from OMIM:

53
Hematology:
normocytic anemia

Laboratory Abnormalities:
elevated erythrocyte adenosine deaminase

Neoplasia:
possibly increased risk of cancer


Clinical features from OMIM:

615909

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 activity 31 HP:0030270

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

Publications for Diamond-Blackfan Anemia 13

Variations for Diamond-Blackfan Anemia 13

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

71
# Symbol AA change Variation ID SNP ID
1 RPS29 p.Ile31Phe VAR_071328 rs587777568
2 RPS29 p.Ile50Thr VAR_071329 rs587777569

ClinVar genetic disease variations for Diamond-Blackfan Anemia 13:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RPS29 NM_001032.4(RPS29): c.91A> T (p.Ile31Phe) single nucleotide variant Pathogenic rs587777568 GRCh37 Chromosome 14, 50052739: 50052739
2 RPS29 NM_001032.4(RPS29): c.149T> C (p.Ile50Thr) single nucleotide variant Pathogenic rs587777569 GRCh37 Chromosome 14, 50052681: 50052681

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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