MCID: DMN006
MIFTS: 22

Diamond-Blackfan Anemia 3

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

Aliases & Classifications for Diamond-Blackfan Anemia 3

MalaCards integrated aliases for Diamond-Blackfan Anemia 3:

Name: Diamond-Blackfan Anemia 3 53 49 71 28 13
Dba3 53 49 71
Anemia, Diamond-Blackfan, 3 69
Anemia Diamond-Blackfan 3 49

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
some patients steroid dependent
limited clinical information available


HPO:

31
diamond-blackfan anemia 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 610629
MedGen 39 C1857719
MeSH 41 D029503
UMLS 69 C1857719

Summaries for Diamond-Blackfan Anemia 3

OMIM : 53 Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by Landowski et al., 2013). For a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 (105650). (610629)

MalaCards based summary : Diamond-Blackfan Anemia 3, is also known as dba3, and has symptoms including webbed neck, reticulocytopenia and macrocytic anemia. An important gene associated with Diamond-Blackfan Anemia 3 is RPS24 (Ribosomal Protein S24). Affiliated tissues include heart, bone and bone marrow.

UniProtKB/Swiss-Prot : 71 Diamond-Blackfan anemia 3: 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 developing leukemia. 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.

Related Diseases for Diamond-Blackfan Anemia 3

Symptoms & Phenotypes for Diamond-Blackfan Anemia 3

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Neck:
webbed neck

Laboratory Abnormalities:
elevated erythrocyte adenosine deaminase (eada)
elevated fetal hemoglobin (hbf)
elevated mean corpuscular volume

Hematology:
anemia, normochromic


Clinical features from OMIM:

610629

Human phenotypes related to Diamond-Blackfan Anemia 3:

31
# Description HPO Frequency HPO Source Accession
1 webbed neck 31 HP:0000465
2 reticulocytopenia 31 HP:0001896
3 macrocytic anemia 31 HP:0001972
4 increased mean corpuscular volume 31 HP:0005518
5 persistence of hemoglobin f 31 HP:0011904

Drugs & Therapeutics for Diamond-Blackfan Anemia 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Mobile Technology and Online Tools to Improve Asthma Control in Adolescents Completed NCT02835300 Phase 2
2 Arise: An Online Relapse Prevention Tool for Adolescent Substance Abusers Completed NCT02715557

Search NIH Clinical Center for Diamond-Blackfan Anemia 3

Genetic Tests for Diamond-Blackfan Anemia 3

Genetic tests related to Diamond-Blackfan Anemia 3:

# Genetic test Affiliating Genes
1 Diamond-Blackfan Anemia 3 28 RPS24

Anatomical Context for Diamond-Blackfan Anemia 3

MalaCards organs/tissues related to Diamond-Blackfan Anemia 3:

38
Heart, Bone, Bone Marrow

Publications for Diamond-Blackfan Anemia 3

Variations for Diamond-Blackfan Anemia 3

ClinVar genetic disease variations for Diamond-Blackfan Anemia 3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RPS24 NM_007055.3(POLR3A): c.-6128_-995del deletion Pathogenic GRCh37 Chromosome 10, 79790160: 79795293
2 RPS24 NM_033022.3(RPS24): c.316C> T (p.Gln106Ter) single nucleotide variant Pathogenic rs104894188 GRCh37 Chromosome 10, 79796988: 79796988
3 RPS24 NM_033022.3(RPS24): c.46C> T (p.Arg16Ter) single nucleotide variant Pathogenic rs104894189 GRCh37 Chromosome 10, 79795152: 79795152
4 RPS24 NM_033022.3(RPS24): c.4_6delAACinsTACGGATAG (p.Asn2_Lys130delinsTyrGly) indel Pathogenic rs116840806 GRCh37 Chromosome 10, 79795110: 79795112

Expression for Diamond-Blackfan Anemia 3

Search GEO for disease gene expression data for Diamond-Blackfan Anemia 3.

Pathways for Diamond-Blackfan Anemia 3

GO Terms for Diamond-Blackfan Anemia 3

Sources for Diamond-Blackfan Anemia 3

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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