DBA10
MCID: DMN017
MIFTS: 27

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 56 73 29 13 6 71
Dba10 56 73
Anemia, Diamond-Blackfan, Type 10 39

Characteristics:

OMIM:

56
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 : 56 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)

MalaCards based summary : Diamond-Blackfan Anemia 10, is also known as dba10. An important gene associated with Diamond-Blackfan Anemia 10 is RPS26 (Ribosomal Protein S26). Affiliated tissues include bone, bone marrow and heart, and related phenotypes are malar flattening and low-set ears

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

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 malar flattening 31 occasional (7.5%) HP:0000272
2 low-set ears 31 occasional (7.5%) HP:0000369
3 microtia 31 occasional (7.5%) HP:0008551
4 short stature 31 occasional (7.5%) HP:0004322
5 micrognathia 31 occasional (7.5%) HP:0000347
6 ventricular septal defect 31 occasional (7.5%) HP:0001629
7 cleft palate 31 occasional (7.5%) HP:0000175
8 ectopic kidney 31 occasional (7.5%) HP:0000086
9 patent ductus arteriosus 31 occasional (7.5%) HP:0001643
10 respiratory distress 31 occasional (7.5%) HP:0002098
11 broad neck 31 occasional (7.5%) HP:0000475
12 posteriorly rotated ears 31 occasional (7.5%) HP:0000358
13 choanal atresia 31 occasional (7.5%) HP:0000453
14 conductive hearing impairment 31 occasional (7.5%) HP:0000405
15 congenital diaphragmatic hernia 31 occasional (7.5%) HP:0000776
16 atresia of the external auditory canal 31 occasional (7.5%) HP:0000413
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:

56
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

Drugs & Therapeutics for Diamond-Blackfan Anemia 10

Search Clinical Trials , NIH Clinical Center for 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, Bone Marrow, Heart, Kidney

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. 61 56 6
24942156 2014
2
Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia. 56 6
23812780 2013
3
Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia. 56 6
20116044 2010
4
Curvilinear mandibular distraction in a patient with mandibulofacial dysostosis associated with Diamond-Blackfan anemia. 56 6
19816270 2009
5
Diamond-Blackfan Anemia 6
20301769 2009
6
Cleft palate, bilateral external auditory canal atresia, and other midline defects associated with Diamond-Blackfan anemia: case report. 6
17483715 2007
7
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 13) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RPS26 NM_001029.5(RPS26):c.259C>T (p.Arg87Ter)SNV Pathogenic 187849 rs148942765 12:56437224-56437224 12:56043440-56043440
2 RPS26 NM_001029.5(RPS26):c.4-2A>TSNV Pathogenic 187850 rs786203998 12:56436207-56436207 12:56042423-56042423
3 RPS26 NM_001029.5(RPS26):c.55C>T (p.Gln19Ter)SNV Pathogenic 212066 rs797045919 12:56436260-56436260 12:56042476-56042476
4 RPS26 NM_001029.5(RPS26):c.1A>G (p.Met1Val)SNV Pathogenic 6122 rs143951267 12:56435951-56435951 12:56042167-56042167
5 RPS26 NM_001029.5(RPS26):c.1A>T (p.Met1Leu)SNV Pathogenic 6123 rs143951267 12:56435951-56435951 12:56042167-56042167
6 RPS26 NM_001029.5(RPS26):c.97G>A (p.Asp33Asn)SNV Pathogenic 6124 rs267607023 12:56436302-56436302 12:56042518-56042518
7 RPS26 NM_001029.5(RPS26):c.31dup (p.Ala11fs)duplication Pathogenic 6125 rs786200892 12:56436235-56436236 12:56042451-56042452
8 RPS26 NM_001029.5(RPS26):c.3+1G>ASNV Pathogenic 6126 rs148622862 12:56435954-56435954 12:56042170-56042170
9 RPS26 NC_000012.10:g.54711095_54731551deldeletion Pathogenic 88979 12:56424828-56445284 12:56031044-56051500
10 RPS26 NM_001029.5(RPS26):c.220_221TG[2] (p.Val75fs)short repeat Likely pathogenic 470476 rs1555208596 12:56437185-56437186 12:56043401-56043402
11 RPS26 NM_001029.5(RPS26):c.312G>A (p.Ala104=)SNV Uncertain significance 651454 12:56437277-56437277 12:56043493-56043493
12 RPS26 NM_001029.5(RPS26):c.266G>C (p.Arg89Pro)SNV Uncertain significance 693985 rs764673368 12:56437231-56437231 12:56043447-56043447
13 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

GO Terms for Diamond-Blackfan Anemia 10

Sources for Diamond-Blackfan Anemia 10

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72 UMLS via Orphanet
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