DBA10
MCID: DMN017
MIFTS: 35

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 73 29 13 6 44 15 71
Dba10 57 12 73
Rps26-Related Diamond-Blackfan Anemia 12
Anemia, Diamond-Blackfan, Type 10 39

Characteristics:

OMIM®:

57 (Updated 05-Mar-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 05-Mar-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, kidney and bone, 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 : 73 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 05-Mar-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 05-Mar-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, Kidney, Bone

Publications for Diamond-Blackfan Anemia 10

Articles related to Diamond-Blackfan Anemia 10:

# 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. 6 57
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
Cleft palate, bilateral external auditory canal atresia, and other midline defects associated with Diamond-Blackfan anemia: case report. 6
17483715 2007
6
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 35)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RPS26 NM_001029.5(RPS26):c.1A>G (p.Met1Val) SNV Pathogenic 6122 rs143951267 12:56435951-56435951 12:56042167-56042167
2 RPS26 NM_001029.5(RPS26):c.1A>T (p.Met1Leu) SNV Pathogenic 6123 rs143951267 12:56435951-56435951 12:56042167-56042167
3 RPS26 NM_001029.5(RPS26):c.97G>A (p.Asp33Asn) SNV Pathogenic 6124 rs267607023 12:56436302-56436302 12:56042518-56042518
4 RPS26 NM_001029.5(RPS26):c.31dup (p.Ala11fs) Duplication Pathogenic 6125 rs786200892 12:56436235-56436236 12:56042451-56042452
5 RPS26 NM_001029.5(RPS26):c.3+1G>A SNV Pathogenic 6126 rs148622862 12:56435954-56435954 12:56042170-56042170
6 LOC116268441 NC_000012.10:g.54711095_54731551del Deletion Pathogenic 88979 12:56424828-56445284 12:56031044-56051500
7 RPS26 NM_001029.5(RPS26):c.259C>T (p.Arg87Ter) SNV Pathogenic 187849 rs148942765 12:56437224-56437224 12:56043440-56043440
8 RPS26 NM_001029.5(RPS26):c.4-2A>T SNV Pathogenic 187850 rs786203998 12:56436207-56436207 12:56042423-56042423
9 RPS26 NM_001029.5(RPS26):c.55C>T (p.Gln19Ter) SNV Pathogenic 212066 rs797045919 12:56436260-56436260 12:56042476-56042476
10 RPS26 NM_001029.5(RPS26):c.181+1del Deletion Pathogenic 929406 12:56436386-56436386 12:56042602-56042602
11 RPS26 NM_001029.5(RPS26):c.2T>G (p.Met1Arg) SNV Pathogenic 933891 12:56435952-56435952 12:56042168-56042168
12 RPS26 NM_001029.5(RPS26):c.196A>T (p.Lys66Ter) SNV Pathogenic 934123 12:56437161-56437161 12:56043377-56043377
13 RPS26 NM_001029.5(RPS26):c.220_221TG[2] (p.Val75fs) Microsatellite Pathogenic/Likely pathogenic 470476 rs1555208596 12:56437185-56437186 12:56043401-56043402
14 RPS26 NM_001029.5(RPS26):c.312G>A (p.Ala104=) SNV Uncertain significance 651454 rs145976784 12:56437277-56437277 12:56043493-56043493
15 RPS26 NM_001029.5(RPS26):c.266G>C (p.Arg89Pro) SNV Uncertain significance 693985 rs764673368 12:56437231-56437231 12:56043447-56043447
16 RPS26 NM_001029.5(RPS26):c.-130T>G SNV Uncertain significance 881904 12:56435821-56435821 12:56042037-56042037
17 RPS26 NM_001029.5(RPS26):c.93C>T (p.Pro31=) SNV Uncertain significance 309859 rs760255764 12:56436298-56436298 12:56042514-56042514
18 RPS26 NM_001029.5(RPS26):c.-149G>T SNV Uncertain significance 309851 rs886049686 12:56435802-56435802 12:56042018-56042018
19 RPS26 NM_001029.5(RPS26):c.181+6_181+7del Deletion Uncertain significance 946046 12:56436391-56436392 12:56042607-56042608
20 RPS26 NM_001029.5(RPS26):c.-80C>T SNV Uncertain significance 309852 rs886049687 12:56435871-56435871 12:56042087-56042087
21 RPS26 NM_001029.5(RPS26):c.-27C>T SNV Likely benign 309856 rs200831849 12:56435924-56435924 12:56042140-56042140
22 RPS26 NM_001029.5(RPS26):c.-9G>T SNV Likely benign 883849 12:56435942-56435942 12:56042158-56042158
23 RPS26 NM_001029.5(RPS26):c.3+7C>T SNV Likely benign 883850 12:56435960-56435960 12:56042176-56042176
24 RPS26 NM_001029.5(RPS26):c.3+9T>A SNV Likely benign 883851 12:56435962-56435962 12:56042178-56042178
25 RPS26 NM_001029.5(RPS26):c.3+14C>T SNV Likely benign 883852 12:56435967-56435967 12:56042183-56042183
26 RPS26 NM_001029.5(RPS26):c.291C>T (p.Pro97=) SNV Likely benign 883853 12:56437256-56437256 12:56043472-56043472
27 RPS26 NM_001029.5(RPS26):c.-33C>T SNV Likely benign 309854 rs372794158 12:56435918-56435918 12:56042134-56042134
28 RPS26 NM_001029.5(RPS26):c.-31C>T SNV Likely benign 883077 12:56435920-56435920 12:56042136-56042136
29 RPS26 NM_001029.5(RPS26):c.-25C>T SNV Benign 883078 12:56435926-56435926 12:56042142-56042142
30 RPS26 NM_001029.5(RPS26):c.-22C>G SNV Benign 309857 rs1131017 12:56435929-56435929 12:56042145-56042145
31 RPS26 NM_001029.5(RPS26):c.-31C>G SNV Benign 309855 rs17118262 12:56435920-56435920 12:56042136-56042136
32 RPS26 NM_001029.5(RPS26):c.-3A>G SNV Benign 309858 rs181174349 12:56435948-56435948 12:56042164-56042164
33 RPS26 NM_001029.5(RPS26):c.-209T>G SNV Benign 309850 rs78108003 12:56435742-56435742 12:56041958-56041958
34 RPS26 NM_001029.5(RPS26):c.-35G>A SNV Benign 309853 rs188808121 12:56435916-56435916 12:56042132-56042132
35 RPS26 NM_001029.5(RPS26):c.327T>A (p.Arg109=) SNV Benign 309860 rs56696262 12:56437917-56437917 12:56044133-56044133

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

73
# 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 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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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