MCID: DMN017
MIFTS: 23

Diamond-Blackfan Anemia 10

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

Aliases & Classifications for Diamond-Blackfan Anemia 10

MalaCards integrated aliases for Diamond-Blackfan Anemia 10:

Name: Diamond-Blackfan Anemia 10 53 71 28 13 69
Dba10 53 71

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
variable expressivity, even within families


HPO:

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


Classifications:



Summaries for Diamond-Blackfan Anemia 10

OMIM : 53 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, and has symptoms including respiratory distress, malar flattening and low-set ears. An important gene associated with Diamond-Blackfan Anemia 10 is RPS26 (Ribosomal Protein S26). Affiliated tissues include bone, bone marrow and heart.

UniProtKB/Swiss-Prot : 71 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

Symptoms via clinical synopsis from OMIM:

53
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

Human phenotypes related to Diamond-Blackfan Anemia 10:

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

Drugs & Therapeutics for Diamond-Blackfan Anemia 10

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Effectiveness of Online Treatment for Insomnia in Cancer Survivors Not yet recruiting NCT02272712

Search 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 28 RPS26

Anatomical Context for Diamond-Blackfan Anemia 10

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

38
Bone, Bone Marrow, Heart, Kidney

Publications for Diamond-Blackfan Anemia 10

Variations for Diamond-Blackfan Anemia 10

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

71
# Symbol AA change Variation ID SNP ID
1 RPS26 p.Asp33Asn VAR_063580 rs267607023
2 RPS26 p.Met115Thr VAR_063581

ClinVar genetic disease variations for Diamond-Blackfan Anemia 10:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RPS26 NC_000012.12: g.56031044_56051500del20457 deletion Pathogenic GRCh37 Chromosome 12, 56424828: 56445284
2 RPS26 NM_001029.4(RPS26): c.259C> T (p.Arg87Ter) single nucleotide variant Pathogenic rs148942765 GRCh37 Chromosome 12, 56437224: 56437224
3 RPS26 NM_001029.4(RPS26): c.4-2A> T single nucleotide variant Pathogenic rs786203998 GRCh37 Chromosome 12, 56436207: 56436207
4 RPS26 NM_001029.4(RPS26): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs143951267 GRCh37 Chromosome 12, 56435951: 56435951
5 RPS26 NM_001029.4(RPS26): c.1A> T (p.Met1Leu) single nucleotide variant Pathogenic rs143951267 GRCh37 Chromosome 12, 56435951: 56435951
6 RPS26 NM_001029.4(RPS26): c.97G> A (p.Asp33Asn) single nucleotide variant Pathogenic rs267607023 GRCh37 Chromosome 12, 56436302: 56436302
7 RPS26 NM_001029.4(RPS26): c.31dup (p.Ala11Glyfs) duplication Pathogenic rs786200892 GRCh38 Chromosome 12, 56042452: 56042452
8 RPS26 NM_001029.4(RPS26): c.3+1G> A single nucleotide variant Pathogenic rs148622862 GRCh37 Chromosome 12, 56435954: 56435954
9 RPS26 NM_001029.4(RPS26): c.55C> T (p.Gln19Ter) single nucleotide variant Pathogenic rs797045919 GRCh38 Chromosome 12, 56042476: 56042476
10 RPS26 NM_001029.4(RPS26): c.224_225delTG (p.Val75Glufs) deletion Likely pathogenic GRCh38 Chromosome 12, 56043405: 56043406

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
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29 HGMD
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65 SNOMED-CT via HPO
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67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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