DBA10
MCID: DMN017
MIFTS: 36

Diamond-Blackfan Anemia 10 (DBA10)

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

Aliases & Classifications for Diamond-Blackfan Anemia 10

MalaCards integrated aliases for Diamond-Blackfan Anemia 10:

Name: Diamond-Blackfan Anemia 10 57 12 72 29 13 6 44 15 70
Dba10 57 12 72
Rps26-Related Diamond-Blackfan Anemia 12
Anemia, Diamond-Blackfan, Type 10 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
variable expressivity, even within families


HPO:

31
diamond-blackfan anemia 10:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


Classifications:



Summaries for Diamond-Blackfan Anemia 10

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). (613309) (Updated 20-May-2021)

MalaCards based summary : Diamond-Blackfan Anemia 10, also known as dba10, is related to nephrotic syndrome, type 10 and hypotrichosis 1. An important gene associated with Diamond-Blackfan Anemia 10 is RPS26 (Ribosomal Protein S26), and among its related pathways/superpathways is Human Thyroid Stimulating Hormone (TSH) signaling pathway. Affiliated tissues include bone marrow, bone and kidney, and related phenotypes are microtia and short stature

Disease Ontology : 12 A Diamond-Blackfan anemia that has material basis in heterozygous mutation in RPS26 on chromosome 12q13.2.

UniProtKB/Swiss-Prot : 72 Diamond-Blackfan anemia 10: 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 10

Graphical network of the top 20 diseases related to Diamond-Blackfan Anemia 10:



Diseases related to Diamond-Blackfan Anemia 10

Symptoms & Phenotypes for Diamond-Blackfan Anemia 10

Human phenotypes related to Diamond-Blackfan Anemia 10:

31 (show all 20)
# Description HPO Frequency HPO Source Accession
1 microtia 31 occasional (7.5%) HP:0008551
2 short stature 31 occasional (7.5%) HP:0004322
3 cleft palate 31 occasional (7.5%) HP:0000175
4 micrognathia 31 occasional (7.5%) HP:0000347
5 low-set ears 31 occasional (7.5%) HP:0000369
6 broad neck 31 occasional (7.5%) HP:0000475
7 ectopic kidney 31 occasional (7.5%) HP:0000086
8 conductive hearing impairment 31 occasional (7.5%) HP:0000405
9 choanal atresia 31 occasional (7.5%) HP:0000453
10 patent ductus arteriosus 31 occasional (7.5%) HP:0001643
11 malar flattening 31 occasional (7.5%) HP:0000272
12 ventricular septal defect 31 occasional (7.5%) HP:0001629
13 congenital diaphragmatic hernia 31 occasional (7.5%) HP:0000776
14 atresia of the external auditory canal 31 occasional (7.5%) HP:0000413
15 respiratory distress 31 occasional (7.5%) HP:0002098
16 posteriorly rotated ears 31 occasional (7.5%) HP:0000358
17 mandibulofacial dysostosis 31 occasional (7.5%) HP:0005321
18 anemia 31 HP:0001903
19 macrocytic anemia 31 HP:0001972
20 reticulocytopenia 31 HP:0001896

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Hematology:
macrocytic anemia
reticulocytopenia
increased fetal hemoglobin
increased erythrocyte adenosine deaminase activity
bone marrow shows decreased erythroid progenitors

Head And Neck Nose:
choanal atresia (in some patients)

Growth Height:
short stature (in some patients)

Head And Neck Face:
micrognathia (in some patients)
mandibulofacial dysostosis (in some patients)
malar hypoplasia (in some patients)

Head And Neck Ears:
posteriorly rotated ears (in some patients)
low-set ears (in some patients)
conductive hearing loss (in some patients)
microtia (in some patients)
external auditory canal atresia (in some patients)

Head And Neck Neck:
wide neck (in some patients)

Genitourinary Kidneys:
duplicated kidney (in some patients)
renal ectopia (in some patients)

Cardiovascular Heart:
ventricular septal defect (in some patients)

Head And Neck Mouth:
cleft palate (in some patients)

Cardiovascular Vascular:
patent ductus arteriosus (in some patients)

Chest Diaphragm:
diaphragmatic hernia (in some patients)

Growth Other:
poor growth (in some patients)

Respiratory:
respiratory difficulties (in some patients)

Clinical features from OMIM®:

613309 (Updated 20-May-2021)

Drugs & Therapeutics for Diamond-Blackfan Anemia 10

Search Clinical Trials , NIH Clinical Center for Diamond-Blackfan Anemia 10

Cochrane evidence based reviews: diamond-blackfan anemia 10

Genetic Tests for Diamond-Blackfan Anemia 10

Genetic tests related to Diamond-Blackfan Anemia 10:

# Genetic test Affiliating Genes
1 Diamond-Blackfan Anemia 10 29 RPS26

Anatomical Context for Diamond-Blackfan Anemia 10

MalaCards organs/tissues related to Diamond-Blackfan Anemia 10:

40
Bone Marrow, Bone, Kidney

Publications for Diamond-Blackfan Anemia 10

Articles related to Diamond-Blackfan Anemia 10:

(show all 12)
# Title Authors PMID Year
1
Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28. 57 6 61
24942156 2014
2
Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia. 57 6
23812780 2013
3
Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia. 57 6
20116044 2010
4
Curvilinear mandibular distraction in a patient with mandibulofacial dysostosis associated with Diamond-Blackfan anemia. 57 6
19816270 2009
5
Pediatric Diamond-Blackfan anemia in the Netherlands: An overview of clinical characteristics and underlying molecular defects. 6
29114930 2018
6
Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes. 6
28102861 2017
7
Improving diagnostic precision, care and syndrome definitions using comprehensive next-generation sequencing for the inherited bone marrow failure syndromes. 6
26136524 2015
8
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 6
25741868 2015
9
Target enrichment and high-throughput sequencing of 80 ribosomal protein genes to identify mutations associated with Diamond-Blackfan anaemia. 6
23718193 2013
10
Can mutations in the ribosomal protein S26 (RPS26) gene lead to Klippel-Feil syndrome in Diamond-Blackfan anemia patients? An update from the Czech Diamond-Blackfan Anemia registry. 6
21414820 2011
11
Cleft palate, bilateral external auditory canal atresia, and other midline defects associated with Diamond-Blackfan anemia: case report. 6
17483715 2007
12
Identification of a novel RPS26 nonsense mutation in a Chinese Diamond-Blackfan Anemia patient. 61
31277601 2019

Variations for Diamond-Blackfan Anemia 10

ClinVar genetic disease variations for Diamond-Blackfan Anemia 10:

6 (show all 37)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RPS26 NM_001029.5(RPS26):c.1A>G (p.Met1Val) SNV Pathogenic 6122 rs143951267 GRCh37: 12:56435951-56435951
GRCh38: 12:56042167-56042167
2 RPS26 NM_001029.5(RPS26):c.1A>T (p.Met1Leu) SNV Pathogenic 6123 rs143951267 GRCh37: 12:56435951-56435951
GRCh38: 12:56042167-56042167
3 RPS26 NM_001029.5(RPS26):c.97G>A (p.Asp33Asn) SNV Pathogenic 6124 rs267607023 GRCh37: 12:56436302-56436302
GRCh38: 12:56042518-56042518
4 RPS26 NM_001029.5(RPS26):c.31dup (p.Ala11fs) Duplication Pathogenic 6125 rs786200892 GRCh37: 12:56436235-56436236
GRCh38: 12:56042451-56042452
5 RPS26 NM_001029.5(RPS26):c.3+1G>A SNV Pathogenic 6126 rs148622862 GRCh37: 12:56435954-56435954
GRCh38: 12:56042170-56042170
6 overlap with 3 genes NC_000012.10:g.54711095_54731551del Deletion Pathogenic 88979 GRCh37: 12:56424828-56445284
GRCh38: 12:56031044-56051500
7 RPS26 NM_001029.5(RPS26):c.259C>T (p.Arg87Ter) SNV Pathogenic 187849 rs148942765 GRCh37: 12:56437224-56437224
GRCh38: 12:56043440-56043440
8 RPS26 NM_001029.5(RPS26):c.4-2A>T SNV Pathogenic 187850 rs786203998 GRCh37: 12:56436207-56436207
GRCh38: 12:56042423-56042423
9 RPS26 NM_001029.5(RPS26):c.55C>T (p.Gln19Ter) SNV Pathogenic 212066 rs797045919 GRCh37: 12:56436260-56436260
GRCh38: 12:56042476-56042476
10 RPS26 NM_001029.5(RPS26):c.181+1del Deletion Pathogenic 929406 GRCh37: 12:56436386-56436386
GRCh38: 12:56042602-56042602
11 RPS26 NM_001029.5(RPS26):c.2T>G (p.Met1Arg) SNV Pathogenic 933891 GRCh37: 12:56435952-56435952
GRCh38: 12:56042168-56042168
12 RPS26 NM_001029.5(RPS26):c.196A>T (p.Lys66Ter) SNV Pathogenic 934123 GRCh37: 12:56437161-56437161
GRCh38: 12:56043377-56043377
13 RPS26 NM_001029.5(RPS26):c.220_221TG[2] (p.Val75fs) Microsatellite Pathogenic/Likely pathogenic 470476 rs1555208596 GRCh37: 12:56437185-56437186
GRCh38: 12:56043401-56043402
14 RPS26 NM_001029.5(RPS26):c.312G>A (p.Ala104=) SNV Uncertain significance 651454 rs145976784 GRCh37: 12:56437277-56437277
GRCh38: 12:56043493-56043493
15 RPS26 NM_001029.5(RPS26):c.266G>C (p.Arg89Pro) SNV Uncertain significance 693985 rs764673368 GRCh37: 12:56437231-56437231
GRCh38: 12:56043447-56043447
16 RPS26 NM_001029.5(RPS26):c.-130T>G SNV Uncertain significance 881904 GRCh37: 12:56435821-56435821
GRCh38: 12:56042037-56042037
17 RPS26 NM_001029.5(RPS26):c.93C>T (p.Pro31=) SNV Uncertain significance 309859 rs760255764 GRCh37: 12:56436298-56436298
GRCh38: 12:56042514-56042514
18 RPS26 NM_001029.5(RPS26):c.-149G>T SNV Uncertain significance 309851 rs886049686 GRCh37: 12:56435802-56435802
GRCh38: 12:56042018-56042018
19 RPS26 NM_001029.5(RPS26):c.181+6_181+7del Deletion Uncertain significance 946046 GRCh37: 12:56436391-56436392
GRCh38: 12:56042607-56042608
20 RPS26 NM_001029.5(RPS26):c.266G>A (p.Arg89His) SNV Uncertain significance 1020612 GRCh37: 12:56437231-56437231
GRCh38: 12:56043447-56043447
21 RPS26 NM_001029.5(RPS26):c.157A>G (p.Ile53Val) SNV Uncertain significance 1034425 GRCh37: 12:56436362-56436362
GRCh38: 12:56042578-56042578
22 RPS26 NM_001029.5(RPS26):c.-80C>T SNV Uncertain significance 309852 rs886049687 GRCh37: 12:56435871-56435871
GRCh38: 12:56042087-56042087
23 RPS26 NM_001029.5(RPS26):c.-27C>T SNV Likely benign 309856 rs200831849 GRCh37: 12:56435924-56435924
GRCh38: 12:56042140-56042140
24 RPS26 NM_001029.5(RPS26):c.-9G>T SNV Likely benign 883849 GRCh37: 12:56435942-56435942
GRCh38: 12:56042158-56042158
25 RPS26 NM_001029.5(RPS26):c.3+7C>T SNV Likely benign 883850 GRCh37: 12:56435960-56435960
GRCh38: 12:56042176-56042176
26 RPS26 NM_001029.5(RPS26):c.3+9T>A SNV Likely benign 883851 GRCh37: 12:56435962-56435962
GRCh38: 12:56042178-56042178
27 RPS26 NM_001029.5(RPS26):c.3+14C>T SNV Likely benign 883852 GRCh37: 12:56435967-56435967
GRCh38: 12:56042183-56042183
28 RPS26 NM_001029.5(RPS26):c.291C>T (p.Pro97=) SNV Likely benign 883853 GRCh37: 12:56437256-56437256
GRCh38: 12:56043472-56043472
29 RPS26 NM_001029.5(RPS26):c.-33C>T SNV Likely benign 309854 rs372794158 GRCh37: 12:56435918-56435918
GRCh38: 12:56042134-56042134
30 RPS26 NM_001029.5(RPS26):c.-31C>T SNV Likely benign 883077 GRCh37: 12:56435920-56435920
GRCh38: 12:56042136-56042136
31 RPS26 NM_001029.5(RPS26):c.-25C>T SNV Benign 883078 GRCh37: 12:56435926-56435926
GRCh38: 12:56042142-56042142
32 RPS26 NM_001029.5(RPS26):c.-22C>G SNV Benign 309857 rs1131017 GRCh37: 12:56435929-56435929
GRCh38: 12:56042145-56042145
33 RPS26 NM_001029.5(RPS26):c.-31C>G SNV Benign 309855 rs17118262 GRCh37: 12:56435920-56435920
GRCh38: 12:56042136-56042136
34 RPS26 NM_001029.5(RPS26):c.-3A>G SNV Benign 309858 rs181174349 GRCh37: 12:56435948-56435948
GRCh38: 12:56042164-56042164
35 RPS26 NM_001029.5(RPS26):c.-209T>G SNV Benign 309850 rs78108003 GRCh37: 12:56435742-56435742
GRCh38: 12:56041958-56041958
36 RPS26 NM_001029.5(RPS26):c.-35G>A SNV Benign 309853 rs188808121 GRCh37: 12:56435916-56435916
GRCh38: 12:56042132-56042132
37 RPS26 NM_001029.5(RPS26):c.327T>A (p.Arg109=) SNV Benign 309860 rs56696262 GRCh37: 12:56437917-56437917
GRCh38: 12:56044133-56044133

UniProtKB/Swiss-Prot genetic disease variations for Diamond-Blackfan Anemia 10:

72
# Symbol AA change Variation ID SNP ID
1 RPS26 p.Asp33Asn VAR_063580 rs267607023
2 RPS26 p.Met115Thr VAR_063581

Expression for Diamond-Blackfan Anemia 10

Search GEO for disease gene expression data for Diamond-Blackfan Anemia 10.

Pathways for Diamond-Blackfan Anemia 10

Pathways related to Diamond-Blackfan Anemia 10 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.46 SRC KCNIP3

GO Terms for Diamond-Blackfan Anemia 10

Cellular components related to Diamond-Blackfan Anemia 10 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 caveola GO:0005901 8.62 SRC EMP2

Biological processes related to Diamond-Blackfan Anemia 10 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell death GO:0008219 8.96 PMP22 EMP2
2 bleb assembly GO:0032060 8.62 PMP22 EMP2

Molecular functions related to Diamond-Blackfan Anemia 10 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion channel binding GO:0044325 8.96 SRC KCNIP3
2 kinase binding GO:0019900 8.62 SRC EMP2

Sources for Diamond-Blackfan Anemia 10

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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