DBA9
MCID: DMN022
MIFTS: 29

Diamond-Blackfan Anemia 9 (DBA9)

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

Aliases & Classifications for Diamond-Blackfan Anemia 9

MalaCards integrated aliases for Diamond-Blackfan Anemia 9:

Name: Diamond-Blackfan Anemia 9 57 12 72 29 13 6 44 15 70
Dba9 57 12 72
Rps10-Related Diamond-Blackfan Anemia 12
Anemia, Diamond-Blackfan, Type 9 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
limited clinical information provided
some patients are steroid responsive
age at diagnosis ranged from birth to 12 years


HPO:

31
diamond-blackfan anemia 9:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111884
OMIM® 57 613308
OMIM Phenotypic Series 57 PS105650
MedGen 41 C2750081
UMLS 70 C2750081

Summaries for Diamond-Blackfan Anemia 9

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). (613308) (Updated 05-Apr-2021)

MalaCards based summary : Diamond-Blackfan Anemia 9, also known as dba9, is related to diamond-blackfan anemia and diamond-blackfan anemia 1. An important gene associated with Diamond-Blackfan Anemia 9 is RPS10 (Ribosomal Protein S10). Affiliated tissues include bone marrow, and related phenotypes are webbed neck and anemia

Disease Ontology : 12 A Diamond-Blackfan anemia that has material basis in heterozygous mutation in RPS10 on chromosome 6p21.31.

UniProtKB/Swiss-Prot : 72 Diamond-Blackfan anemia 9: 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.

Related Diseases for Diamond-Blackfan Anemia 9

Symptoms & Phenotypes for Diamond-Blackfan Anemia 9

Human phenotypes related to Diamond-Blackfan Anemia 9:

31 (showing 4, show less)
# Description HPO Frequency HPO Source Accession
1 webbed neck 31 occasional (7.5%) HP:0000465
2 anemia 31 HP:0001903
3 growth delay 31 HP:0001510
4 low levels of vitamin d 31 HP:0100512

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Hematology:
anemia

Laboratory Abnormalities:
vitamin d deficiency

Head And Neck Neck:
webbed neck (rare)

Growth Other:
growth retardation

Head And Neck Face:
cathie facies

Clinical features from OMIM®:

613308 (Updated 05-Apr-2021)

GenomeRNAi Phenotypes related to Diamond-Blackfan Anemia 9 according to GeneCards Suite gene sharing:

26 (showing 8, show less)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-213 9.8 RPS10 RPS10-NUDT3
2 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.8 RPS10 RPS10-NUDT3
3 Increased shRNA abundance (Z-score > 2) GR00366-A-87 9.8 RPS10 RPS10-NUDT3
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-11 9.65 RPS10 RPS10-NUDT3
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-177 9.65 RPS10 RPS10-NUDT3
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-29 9.65 RPS10 RPS10-NUDT3
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 9.65 RPS10 RPS10-NUDT3
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-73 9.65 RPS10 RPS10-NUDT3

Drugs & Therapeutics for Diamond-Blackfan Anemia 9

Search Clinical Trials , NIH Clinical Center for Diamond-Blackfan Anemia 9

Cochrane evidence based reviews: diamond-blackfan anemia 9

Genetic Tests for Diamond-Blackfan Anemia 9

Genetic tests related to Diamond-Blackfan Anemia 9:

# Genetic test Affiliating Genes
1 Diamond-Blackfan Anemia 9 29 RPS10

Anatomical Context for Diamond-Blackfan Anemia 9

MalaCards organs/tissues related to Diamond-Blackfan Anemia 9:

40
Bone Marrow

Publications for Diamond-Blackfan Anemia 9

Articles related to Diamond-Blackfan Anemia 9:

(showing 3, show less)
# Title Authors PMID Year
1
Target enrichment and high-throughput sequencing of 80 ribosomal protein genes to identify mutations associated with Diamond-Blackfan anaemia. 57 6
23718193 2013
2
Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia. 57 6
20116044 2010
3
Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia. 57
23812780 2013

Variations for Diamond-Blackfan Anemia 9

ClinVar genetic disease variations for Diamond-Blackfan Anemia 9:

6 (showing 24, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RPS10-NUDT3 , RPS10 NM_001014.5(RPS10):c.3G>A (p.Met1Ile) SNV Pathogenic 6185 rs267607021 GRCh37: 6:34392996-34392996
GRCh38: 6:34425219-34425219
2 RPS10-NUDT3 , RPS10 NM_001014.5(RPS10):c.260dup (p.Glu88fs) Duplication Pathogenic 6186 rs1581931541 GRCh37: 6:34392507-34392508
GRCh38: 6:34424730-34424731
3 RPS10-NUDT3 , RPS10 NM_001014.5(RPS10):c.337C>T (p.Arg113Ter) SNV Pathogenic 6187 rs267607022 GRCh37: 6:34389570-34389570
GRCh38: 6:34421793-34421793
4 RPS10-NUDT3 , RPS10 NM_001014.5(RPS10):c.71A>G (p.Lys24Arg) SNV Conflicting interpretations of pathogenicity 356422 rs201147592 GRCh37: 6:34392928-34392928
GRCh38: 6:34425151-34425151
5 RPS10-NUDT3 , RPS10 NM_001014.5(RPS10):c.89C>T (p.Pro30Leu) SNV Uncertain significance 997511 GRCh37: 6:34392910-34392910
GRCh38: 6:34425133-34425133
6 RPS10-NUDT3 , RPS10 NM_001014.5(RPS10):c.40C>T (p.Leu14Phe) SNV Uncertain significance 856444 GRCh37: 6:34392959-34392959
GRCh38: 6:34425182-34425182
7 RPS10-NUDT3 , RPS10 NM_001014.5(RPS10):c.322+2_322+4dup Duplication Uncertain significance 225461 rs1554164160 GRCh37: 6:34392441-34392442
GRCh38: 6:34424664-34424665
8 RPS10-NUDT3 , RPS10 NM_001014.5(RPS10):c.364G>A (p.Ala122Thr) SNV Uncertain significance 356420 rs886061322 GRCh37: 6:34389543-34389543
GRCh38: 6:34421766-34421766
9 RPS10-NUDT3 , RPS10 NM_001014.5(RPS10):c.*25G>T SNV Uncertain significance 356418 rs886061321 GRCh37: 6:34385258-34385258
GRCh38: 6:34417481-34417481
10 RPS10-NUDT3 , RPS10 NM_001014.5(RPS10):c.-27C>A SNV Uncertain significance 907589 GRCh37: 6:34393835-34393835
GRCh38: 6:34426058-34426058
11 RPS10-NUDT3 , RPS10 NM_001014.5(RPS10):c.-9G>C SNV Uncertain significance 907588 GRCh37: 6:34393817-34393817
GRCh38: 6:34426040-34426040
12 RPS10-NUDT3 , RPS10 NM_001014.5(RPS10):c.168C>T (p.Gly56=) SNV Uncertain significance 906571 GRCh37: 6:34392600-34392600
GRCh38: 6:34424823-34424823
13 RPS10-NUDT3 , RPS10 NM_001014.5(RPS10):c.6G>A (p.Leu2=) SNV Likely benign 356423 rs146246722 GRCh37: 6:34392993-34392993
GRCh38: 6:34425216-34425216
14 RPS10-NUDT3 , RPS10 NM_001014.5(RPS10):c.111C>G (p.Asp37Glu) SNV Likely benign 356421 rs374314919 GRCh37: 6:34392888-34392888
GRCh38: 6:34425111-34425111
15 RPS10-NUDT3 , RPS10 NM_001014.5(RPS10):c.1-3C>G SNV Benign 356424 rs375500787 GRCh37: 6:34393001-34393001
GRCh38: 6:34425224-34425224
16 RPS10-NUDT3 , RPS10 NM_001014.5(RPS10):c.408C>T (p.Ala136=) SNV Benign 356419 rs147566753 GRCh37: 6:34386194-34386194
GRCh38: 6:34418417-34418417
17 RPS10-NUDT3 , RPS10 NM_001014.5(RPS10):c.231G>A (p.Gln77=) SNV Benign 238211 rs147863199 GRCh37: 6:34392537-34392537
GRCh38: 6:34424760-34424760
18 RPS10-NUDT3 , RPS10 NM_001014.5(RPS10):c.437C>T (p.Ser146Leu) SNV Benign 904984 GRCh37: 6:34386165-34386165
GRCh38: 6:34418388-34418388
19 RPS10-NUDT3 , RPS10 NM_001014.5(RPS10):c.-14C>T SNV Benign 356426 rs576997899 GRCh37: 6:34393822-34393822
GRCh38: 6:34426045-34426045
20 RPS10-NUDT3 , RPS10 NM_001014.5(RPS10):c.-29C>T SNV Benign 356428 rs140822093 GRCh37: 6:34393837-34393837
GRCh38: 6:34426060-34426060
21 RPS10-NUDT3 , RPS10 NM_001014.5(RPS10):c.-21C>G SNV Benign 356427 rs181470609 GRCh37: 6:34393829-34393829
GRCh38: 6:34426052-34426052
22 RPS10-NUDT3 , RPS10 NM_001014.5(RPS10):c.*43A>G SNV Benign 356417 rs200231286 GRCh37: 6:34385240-34385240
GRCh38: 6:34417463-34417463
23 RPS10-NUDT3 , RPS10 NM_001014.5(RPS10):c.-37C>T SNV Benign 356431 rs9469779 GRCh37: 6:34393845-34393845
GRCh38: 6:34426068-34426068
24 RPS10-NUDT3 , RPS10 NM_001014.5(RPS10):c.432T>G (p.Ala144=) SNV Benign 906570 GRCh37: 6:34386170-34386170
GRCh38: 6:34418393-34418393

Expression for Diamond-Blackfan Anemia 9

Search GEO for disease gene expression data for Diamond-Blackfan Anemia 9.

Pathways for Diamond-Blackfan Anemia 9

GO Terms for Diamond-Blackfan Anemia 9

Cellular components related to Diamond-Blackfan Anemia 9 according to GeneCards Suite gene sharing:

(showing 1, show less)
# Name GO ID Score Top Affiliating Genes
1 ribosome GO:0005840 8.62 RPS10-NUDT3 RPS10

Sources for Diamond-Blackfan Anemia 9

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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