MCID: DMN006
MIFTS: 22

Diamond-Blackfan Anemia 3

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

Aliases & Classifications for Diamond-Blackfan Anemia 3

MalaCards integrated aliases for Diamond-Blackfan Anemia 3:

Name: Diamond-Blackfan Anemia 3 57 53 75 29 13 6
Dba3 57 53 75
Anemia, Diamond-Blackfan, Type 3 40
Anemia, Diamond-Blackfan, 3 73
Anemia Diamond-Blackfan 3 53

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
some patients steroid dependent
limited clinical information available


HPO:

32
diamond-blackfan anemia 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 610629
MedGen 42 C1857719
MeSH 44 D029503
UMLS 73 C1857719

Summaries for Diamond-Blackfan Anemia 3

OMIM : 57 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. An important gene associated with Diamond-Blackfan Anemia 3 is RPS24 (Ribosomal Protein S24). Affiliated tissues include heart, bone and bone marrow, and related phenotypes are webbed neck and reticulocytopenia

UniProtKB/Swiss-Prot : 75 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:

57
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:

32
# Description HPO Frequency HPO Source Accession
1 webbed neck 32 HP:0000465
2 reticulocytopenia 32 HP:0001896
3 macrocytic anemia 32 HP:0001972
4 increased mean corpuscular volume 32 HP:0005518
5 persistence of hemoglobin f 32 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 Not Applicable

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 29 RPS24

Anatomical Context for Diamond-Blackfan Anemia 3

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

41
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_033022.3(RPS24): c.316C> T (p.Gln106Ter) single nucleotide variant Pathogenic rs104894188 GRCh37 Chromosome 10, 79796988: 79796988
2 RPS24 NM_033022.3(RPS24): c.316C> T (p.Gln106Ter) single nucleotide variant Pathogenic rs104894188 GRCh38 Chromosome 10, 78037230: 78037230
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.46C> T (p.Arg16Ter) single nucleotide variant Pathogenic rs104894189 GRCh38 Chromosome 10, 78035394: 78035394
5 RPS24 NM_033022.3(RPS24): c.4_6delAACinsTACGGATAG (p.Asn2_Lys130delinsTyrGly) indel Pathogenic rs116840806 GRCh37 Chromosome 10, 79795110: 79795112
6 RPS24 NM_033022.3(RPS24): c.4_6delAACinsTACGGATAG (p.Asn2_Lys130delinsTyrGly) indel Pathogenic rs116840806 GRCh38 Chromosome 10, 78035352: 78035354
7 RPS24 NM_007055.3(POLR3A): c.-6128_-995del deletion Pathogenic GRCh37 Chromosome 10, 79790160: 79795293
8 RPS24 NM_007055.3(POLR3A): c.-6128_-995del deletion Pathogenic GRCh38 Chromosome 10, 78030402: 78035535
9 RPS24 NM_007055.3(POLR3A): c.-6128_-995del deletion Pathogenic NCBI36 Chromosome 10, 79460166: 79465299

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
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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