MCID: DMN030
MIFTS: 18

Diamond-Blackfan Anemia 13

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

Aliases & Classifications for Diamond-Blackfan Anemia 13

MalaCards integrated aliases for Diamond-Blackfan Anemia 13:

Name: Diamond-Blackfan Anemia 13 57 75 29 6 73
Dba13 57 75
Anemia, Diamond-Blackfan, Type 13 40

Characteristics:

OMIM:

57
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:

32
diamond-blackfan anemia 13:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity incomplete penetrance childhood onset


Classifications:



External Ids:

OMIM 57 615909
MeSH 44 D029503
SNOMED-CT via HPO 69 263681008 300980002
UMLS 73 C4014641

Summaries for Diamond-Blackfan Anemia 13

UniProtKB/Swiss-Prot : 75 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, also known as dba13, is related to diamond-blackfan anemia. 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 activity

Description from OMIM: 615909

Related Diseases for Diamond-Blackfan Anemia 13

Symptoms & Phenotypes for Diamond-Blackfan Anemia 13

Symptoms via clinical synopsis from OMIM:

57
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:

32
# Description HPO Frequency HPO Source Accession
1 normocytic anemia 32 HP:0001897
2 elevated red cell adenosine deaminase activity 32 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 29 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:

75
# 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.91A> T (p.Ile31Phe) single nucleotide variant Pathogenic rs587777568 GRCh38 Chromosome 14, 49586021: 49586021
3 RPS29 NM_001032.4(RPS29): c.149T> C (p.Ile50Thr) single nucleotide variant Pathogenic rs587777569 GRCh37 Chromosome 14, 50052681: 50052681
4 RPS29 NM_001032.4(RPS29): c.149T> C (p.Ile50Thr) single nucleotide variant Pathogenic rs587777569 GRCh38 Chromosome 14, 49585963: 49585963

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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