DBA3
MCID: DMN006
MIFTS: 38

Diamond-Blackfan Anemia 3 (DBA3)

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

Aliases & Classifications for Diamond-Blackfan Anemia 3

MalaCards integrated aliases for Diamond-Blackfan Anemia 3:

Name: Diamond-Blackfan Anemia 3 57 12 20 72 29 13 6 15
Dba3 57 12 20 72
Anemia, Diamond-Blackfan, 3 44 70
Rps24-Related Diamond-Blackfan Anemia 12
Anemia, Diamond-Blackfan, Type 3 39
Anemia Diamond-Blackfan 3 20

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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:

Disease Ontology 12 DOID:0111887
OMIM® 57 610629
OMIM Phenotypic Series 57 PS105650
MedGen 41 C1857719
UMLS 70 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) (Updated 05-Apr-2021)

MalaCards based summary : Diamond-Blackfan Anemia 3, also known as dba3, is related to podoconiosis and acute disseminated encephalomyelitis. An important gene associated with Diamond-Blackfan Anemia 3 is RPS24 (Ribosomal Protein S24), and among its related pathways/superpathways are Allograft rejection and Measles. Affiliated tissues include bone marrow, and related phenotypes are webbed neck and macrocytic anemia

Disease Ontology : 12 A Diamond-Blackfan anemia that has material basis in heterozygous mutation in RPS24 on chromosome 10q22.3.

UniProtKB/Swiss-Prot : 72 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

Diseases in the Diamond-Blackfan Anemia family:

Diamond-Blackfan Anemia 1 Diamond-Blackfan Anemia 2
Diamond-Blackfan Anemia 3 Diamond-Blackfan Anemia 4
Diamond-Blackfan Anemia 5 Diamond-Blackfan Anemia 6
Diamond-Blackfan Anemia 7 Diamond-Blackfan Anemia 8
Diamond-Blackfan Anemia 9 Diamond-Blackfan Anemia 10
Diamond-Blackfan Anemia 11 Diamond-Blackfan Anemia 12
Diamond-Blackfan Anemia 13 Diamond-Blackfan Anemia 16
Diamond-Blackfan Anemia 17 Diamond-Blackfan Anemia-Like
Diamond-Blackfan Anemia 18 Diamond-Blackfan Anemia 19
Diamond-Blackfan Anemia 20

Diseases related to Diamond-Blackfan Anemia 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 19)
# Related Disease Score Top Affiliating Genes
1 podoconiosis 10.1 HLA-DQA2 HLA-DQA1
2 acute disseminated encephalomyelitis 10.0 HLA-DQA1 HLA-DPA1
3 hypertensive retinopathy 9.8 VEZF1 ALB
4 orthostatic proteinuria 9.8 B2M ALB
5 non-secretory myeloma 9.8 B2M ALB
6 oxirane allergy 9.8 B2M ALB
7 pyuria 9.8 B2M ALB
8 immunodeficiency 43 9.8 B2M ALB
9 chronic pyelonephritis 9.8 B2M ALB
10 pyelitis 9.8 B2M ALB
11 diffuse idiopathic skeletal hyperostosis 9.7 COL11A2 ALB
12 acute kidney tubular necrosis 9.7 B2M ALB
13 amyloidosis, hereditary, transthyretin-related 9.7 B2M ALB
14 danubian endemic familial nephropathy 9.7 B2M ALB
15 plasma protein metabolism disease 9.6 B2M ALB
16 dysentery 9.6 SLC26A3 ALB
17 membranous nephropathy 9.6 HLA-DQA1 B2M ALB
18 proteinuria, chronic benign 9.6 B2M ALB
19 celiac disease 1 9.6 HLA-DQA2 HLA-DQA1 HLA-DPA1 ALB

Graphical network of the top 20 diseases related to Diamond-Blackfan Anemia 3:



Diseases related to Diamond-Blackfan Anemia 3

Symptoms & Phenotypes for Diamond-Blackfan Anemia 3

Human phenotypes related to Diamond-Blackfan Anemia 3:

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Neck:
webbed neck

Hematology:
anemia, normochromic

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

Clinical features from OMIM®:

610629 (Updated 05-Apr-2021)

Drugs & Therapeutics for Diamond-Blackfan Anemia 3

Search Clinical Trials , NIH Clinical Center for Diamond-Blackfan Anemia 3

Cochrane evidence based reviews: anemia, diamond-blackfan, 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:

40
Bone Marrow

Publications for Diamond-Blackfan Anemia 3

Articles related to Diamond-Blackfan Anemia 3:

# Title Authors PMID Year
1
Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia. 57 6
23812780 2013
2
Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia. 6 57
17186470 2006
3
Mutation of ribosomal protein RPS24 in Diamond-Blackfan anemia results in a ribosome biogenesis disorder. 57
18230666 2008
4
Human RPS19, the gene mutated in Diamond-Blackfan anemia, encodes a ribosomal protein required for the maturation of 40S ribosomal subunits. 57
16990592 2007
5
Adriamycin damage: in vivo repair by lymphoma cells. 61
6947109 1981
6
Transfer RNA species in tumors of different growth rates. 61
975094 1976

Variations for Diamond-Blackfan Anemia 3

ClinVar genetic disease variations for Diamond-Blackfan Anemia 3:

6 (show all 31)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RPS24 NM_007055.3(POLR3A):c.-6128_-995del Deletion Pathogenic 88977 GRCh37: 10:79790160-79795293
GRCh38: 10:78030402-78035535
2 RPS24 NM_033022.3(RPS24):c.316C>T (p.Gln106Ter) SNV Pathogenic 7245 rs104894188 GRCh37: 10:79796988-79796988
GRCh38: 10:78037230-78037230
3 RPS24 NM_033022.3(RPS24):c.46C>T (p.Arg16Ter) SNV Pathogenic 7246 rs104894189 GRCh37: 10:79795152-79795152
GRCh38: 10:78035394-78035394
4 RPS24 NM_001026.4(RPS24):c.4_6delinsTACGGATAG (p.Asn2delinsTyrGlyTer) Indel Pathogenic 7247 rs116840806 GRCh37: 10:79795110-79795112
GRCh38: 10:78035352-78035354
5 RPS24 NM_033022.3(RPS24):c.148A>C (p.Thr50Pro) SNV Pathogenic 549764 rs1554841994 GRCh37: 10:79795347-79795347
GRCh38: 10:78035589-78035589
6 RPS24 NM_033022.3(RPS24):c.-142A>G SNV Uncertain significance 301087 rs886047294 GRCh37: 10:79793518-79793518
GRCh38: 10:78033760-78033760
7 RPS24 NM_001026.4(RPS24):c.-47T>G SNV Uncertain significance 877451 GRCh37: 10:79793613-79793613
GRCh38: 10:78033855-78033855
8 RPS24 NM_033022.4(RPS24):c.3+7C>T SNV Uncertain significance 696301 rs759947869 GRCh37: 10:79793669-79793669
GRCh38: 10:78033911-78033911
9 RPS24 NM_001142285.2(RPS24):c.439G>A (p.Glu147Lys) SNV Uncertain significance 997562 GRCh37: 10:79814337-79814337
GRCh38: 10:78054579-78054579
10 RPS24 NM_001142285.2(RPS24):c.409G>A (p.Gly137Arg) SNV Uncertain significance 997675 GRCh37: 10:79814307-79814307
GRCh38: 10:78054549-78054549
11 RPS24 NM_001142285.2(RPS24):c.659C>T (p.Ala220Val) SNV Uncertain significance 998289 GRCh37: 10:79814557-79814557
GRCh38: 10:78054799-78054799
12 RPS24 NM_001142285.2(RPS24):c.811A>C (p.Ile271Leu) SNV Uncertain significance 998290 GRCh37: 10:79814709-79814709
GRCh38: 10:78054951-78054951
13 RPS24 NM_033022.4(RPS24):c.4-7T>C SNV Uncertain significance 878477 GRCh37: 10:79795103-79795103
GRCh38: 10:78035345-78035345
14 RPS24 NM_001142285.2(RPS24):c.828C>A (p.Ser276Arg) SNV Likely benign 973668 GRCh37: 10:79814726-79814726
GRCh38: 10:78054968-78054968
15 RPS24 NM_033022.3(RPS24):c.-50G>A SNV Likely benign 301089 rs190989611 GRCh37: 10:79793610-79793610
GRCh38: 10:78033852-78033852
16 RPS24 NM_033022.4(RPS24):c.3+15G>A SNV Likely benign 878476 GRCh37: 10:79793677-79793677
GRCh38: 10:78033919-78033919
17 RPS24 NM_033022.4(RPS24):c.-23C>T SNV Likely benign 877454 GRCh37: 10:79793637-79793637
GRCh38: 10:78033879-78033879
18 RPS24 NM_033022.4(RPS24):c.-37C>T SNV Likely benign 877452 GRCh37: 10:79793623-79793623
GRCh38: 10:78033865-78033865
19 RPS24 NM_033022.3(RPS24):c.333G>A (p.Lys111=) SNV Likely benign 301096 rs144291219 GRCh37: 10:79797005-79797005
GRCh38: 10:78037247-78037247
20 RPS24 NM_033022.3(RPS24):c.*21C>T SNV Benign 301098 rs114512325 GRCh37: 10:79800374-79800374
GRCh38: 10:78040616-78040616
21 RPS24 NM_033022.3(RPS24):c.*99T>C SNV Benign 301099 rs146068394 GRCh37: 10:79800452-79800452
GRCh38: 10:78040694-78040694
22 RPS24 NM_033022.3(RPS24):c.168T>C (p.Phe56=) SNV Benign 301092 rs57866839 GRCh37: 10:79795367-79795367
GRCh38: 10:78035609-78035609
23 RPS24 NM_033022.3(RPS24):c.235C>T (p.Leu79=) SNV Benign 301094 rs192994060 GRCh37: 10:79795434-79795434
GRCh38: 10:78035676-78035676
24 RPS24 NM_033022.3(RPS24):c.371A>G (p.Asn124Ser) SNV Benign 241728 rs147128920 GRCh37: 10:79797043-79797043
GRCh38: 10:78037285-78037285
25 RPS24 NM_033022.4(RPS24):c.-32C>T SNV Benign 877453 GRCh37: 10:79793628-79793628
GRCh38: 10:78033870-78033870
26 RPS24 NM_033022.3(RPS24):c.-36T>G SNV Benign 301090 rs45533232 GRCh37: 10:79793624-79793624
GRCh38: 10:78033866-78033866
27 POLR3A , RPS24 NM_033022.3(RPS24):c.-8T>G SNV Benign 301091 rs185722293 GRCh37: 10:79793652-79793652
GRCh38: 10:78033894-78033894
28 RPS24 NM_033022.4(RPS24):c.-7C>A SNV Benign 877455 GRCh37: 10:79793653-79793653
GRCh38: 10:78033895-78033895
29 RPS24 NM_033022.3(RPS24):c.177A>G (p.Gly59=) SNV Benign 301093 rs6496 GRCh37: 10:79795376-79795376
GRCh38: 10:78035618-78035618
30 RPS24 NM_033022.4(RPS24):c.391-3C>A SNV Benign 301097 rs7899453 GRCh37: 10:79799959-79799959
GRCh38: 10:78040201-78040201
31 POLR3A , RPS24 NM_033022.3(RPS24):c.-109A>G SNV Benign 301088 rs3740254 GRCh37: 10:79793551-79793551
GRCh38: 10:78033793-78033793

Expression for Diamond-Blackfan Anemia 3

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

Pathways for Diamond-Blackfan Anemia 3

Pathways related to Diamond-Blackfan Anemia 3 according to GeneCards Suite gene sharing:

(show all 18)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.6 HLA-DQA2 HLA-DQA1 HLA-DPA1 B2M
2
Show member pathways
12.58 HLA-DQA2 HLA-DQA1 HLA-DPA1 B2M
3 12.53 HLA-DQA2 HLA-DQA1 HLA-DPA1 B2M
4
Show member pathways
12.16 HLA-DQA2 HLA-DQA1 HLA-DPA1 B2M
5
Show member pathways
12.03 HLA-DQA2 HLA-DQA1 HLA-DPA1
6 11.98 HLA-DQA2 HLA-DQA1 HLA-DPA1
7
Show member pathways
11.94 HLA-DQA2 HLA-DQA1 HLA-DPA1
8 11.87 HLA-DQA2 HLA-DQA1 HLA-DPA1
9 11.83 HLA-DQA2 HLA-DQA1 HLA-DPA1
10
Show member pathways
11.67 HLA-DQA2 HLA-DQA1 HLA-DPA1
11 11.65 HLA-DQA2 HLA-DQA1 HLA-DPA1
12 11.62 HLA-DQA2 HLA-DQA1 HLA-DPA1
13 11.6 HLA-DQA2 HLA-DQA1 HLA-DPA1 B2M
14 11.58 HLA-DQA2 HLA-DQA1 HLA-DPA1
15 11.48 HLA-DQA2 HLA-DQA1 HLA-DPA1
16 11.4 HLA-DQA2 HLA-DQA1 HLA-DPA1
17 11.18 HLA-DQA2 HLA-DQA1 HLA-DPA1
18
Show member pathways
10.76 HLA-DQA2 HLA-DQA1 HLA-DPA1

GO Terms for Diamond-Blackfan Anemia 3

Cellular components related to Diamond-Blackfan Anemia 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lysosomal membrane GO:0005765 9.73 HLA-DQA2 HLA-DQA1 HLA-DPA1 DAB2
2 trans-Golgi network membrane GO:0032588 9.58 HLA-DQA2 HLA-DQA1 HLA-DPA1
3 endocytic vesicle membrane GO:0030666 9.54 HLA-DQA2 HLA-DQA1 HLA-DPA1
4 transport vesicle membrane GO:0030658 9.5 HLA-DQA2 HLA-DQA1 HLA-DPA1
5 clathrin-coated endocytic vesicle membrane GO:0030669 9.43 HLA-DQA2 HLA-DQA1 HLA-DPA1
6 integral component of lumenal side of endoplasmic reticulum membrane GO:0071556 9.33 HLA-DQA2 HLA-DQA1 HLA-DPA1
7 MHC class II protein complex GO:0042613 9.13 HLA-DQA2 HLA-DQA1 HLA-DPA1
8 ER to Golgi transport vesicle membrane GO:0012507 8.92 HLA-DQA2 HLA-DQA1 HLA-DPA1 B2M

Biological processes related to Diamond-Blackfan Anemia 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 immune system process GO:0002376 9.72 POLR3A HLA-DQA2 HLA-DQA1 HLA-DPA1 B2M
2 immune response GO:0006955 9.71 HLA-DQA2 HLA-DQA1 HLA-DPA1 B2M
3 T cell receptor signaling pathway GO:0050852 9.54 HLA-DQA2 HLA-DQA1 HLA-DPA1
4 antigen processing and presentation of exogenous peptide antigen via MHC class II GO:0019886 9.43 HLA-DQA2 HLA-DQA1 HLA-DPA1
5 antigen processing and presentation GO:0019882 9.33 HLA-DQA2 HLA-DQA1 HLA-DPA1
6 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II GO:0002504 9.13 HLA-DQA2 HLA-DQA1 HLA-DPA1
7 interferon-gamma-mediated signaling pathway GO:0060333 8.92 HLA-DQA2 HLA-DQA1 HLA-DPA1 B2M

Molecular functions related to Diamond-Blackfan Anemia 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 peptide antigen binding GO:0042605 8.96 HLA-DQA1 HLA-DPA1
2 MHC class II receptor activity GO:0032395 8.8 HLA-DQA2 HLA-DQA1 HLA-DPA1

Sources for Diamond-Blackfan Anemia 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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