MCID: DMN017
MIFTS: 26

Diamond-Blackfan Anemia 10

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

Aliases & Classifications for Diamond-Blackfan Anemia 10

MalaCards integrated aliases for Diamond-Blackfan Anemia 10:

Name: Diamond-Blackfan Anemia 10 57 75 29 13 6 73
Dba10 57 75
Anemia, Diamond-Blackfan, Type 10 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
variable expressivity, even within families


HPO:

32
diamond-blackfan anemia 10:
Onset and clinical course infantile onset
Inheritance autosomal dominant inheritance


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)

MalaCards based summary : Diamond-Blackfan Anemia 10, also known as dba10, is related to diamond-blackfan anemia 15 with mandibulofacial dysostosis and diamond-blackfan anemia. An important gene associated with Diamond-Blackfan Anemia 10 is RPS26 (Ribosomal Protein S26). Affiliated tissues include bone marrow, bone and heart, and related phenotypes are ectopic kidney and cleft palate

UniProtKB/Swiss-Prot : 75 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:

57
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:

32 (show all 20)
# Description HPO Frequency HPO Source Accession
1 ectopic kidney 32 occasional (7.5%) HP:0000086
2 cleft palate 32 occasional (7.5%) HP:0000175
3 malar flattening 32 occasional (7.5%) HP:0000272
4 micrognathia 32 occasional (7.5%) HP:0000347
5 posteriorly rotated ears 32 occasional (7.5%) HP:0000358
6 low-set ears 32 occasional (7.5%) HP:0000369
7 conductive hearing impairment 32 occasional (7.5%) HP:0000405
8 atresia of the external auditory canal 32 occasional (7.5%) HP:0000413
9 choanal atresia 32 occasional (7.5%) HP:0000453
10 broad neck 32 occasional (7.5%) HP:0000475
11 congenital diaphragmatic hernia 32 occasional (7.5%) HP:0000776
12 ventricular septal defect 32 occasional (7.5%) HP:0001629
13 patent ductus arteriosus 32 occasional (7.5%) HP:0001643
14 reticulocytopenia 32 HP:0001896
15 anemia 32 HP:0001903
16 macrocytic anemia 32 HP:0001972
17 respiratory distress 32 occasional (7.5%) HP:0002098
18 short stature 32 occasional (7.5%) HP:0004322
19 mandibulofacial dysostosis 32 occasional (7.5%) HP:0005321
20 microtia 32 occasional (7.5%) HP:0008551

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 Recruiting NCT02272712 Not Applicable

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 29 RPS26

Anatomical Context for Diamond-Blackfan Anemia 10

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

41
Bone Marrow, Bone, 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:

75
# 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
(show all 23)
# Gene Variation Type Significance SNP ID Assembly Location
1 RPS26 NM_001029.4(RPS26): c.31dup (p.Ala11Glyfs) duplication Pathogenic rs786200892 GRCh38 Chromosome 12, 56042452: 56042452
2 RPS26 NM_001029.3(RPS26): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs143951267 GRCh37 Chromosome 12, 56435951: 56435951
3 RPS26 NM_001029.3(RPS26): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs143951267 GRCh38 Chromosome 12, 56042167: 56042167
4 RPS26 NM_001029.4(RPS26): c.1A> T (p.Met1Leu) 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 GRCh38 Chromosome 12, 56042167: 56042167
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.97G> A (p.Asp33Asn) single nucleotide variant Pathogenic rs267607023 GRCh38 Chromosome 12, 56042518: 56042518
8 RPS26 NM_001029.4(RPS26): c.31dup (p.Ala11Glyfs) duplication Pathogenic rs786200892 GRCh37 Chromosome 12, 56436236: 56436236
9 RPS26 NM_001029.4(RPS26): c.3+1G> A single nucleotide variant Pathogenic rs148622862 GRCh37 Chromosome 12, 56435954: 56435954
10 RPS26 NM_001029.4(RPS26): c.3+1G> A single nucleotide variant Pathogenic rs148622862 GRCh38 Chromosome 12, 56042170: 56042170
11 RPS26 NC_000012.12: g.56031044_56051500del20457 deletion Pathogenic GRCh37 Chromosome 12, 56424828: 56445284
12 RPS26 NC_000012.12: g.56031044_56051500del20457 deletion Pathogenic GRCh38 Chromosome 12, 56031044: 56051500
13 RPS26 NC_000012.12: g.56031044_56051500del20457 deletion Pathogenic NCBI36 Chromosome 12, 54711095: 54731551
14 RPS26 NM_001029.4(RPS26): c.259C> T (p.Arg87Ter) single nucleotide variant Pathogenic rs148942765 GRCh37 Chromosome 12, 56437224: 56437224
15 RPS26 NM_001029.4(RPS26): c.259C> T (p.Arg87Ter) single nucleotide variant Pathogenic rs148942765 GRCh38 Chromosome 12, 56043440: 56043440
16 RPS26 NM_001029.4(RPS26): c.4-2A> T single nucleotide variant Pathogenic rs786203998 GRCh37 Chromosome 12, 56436207: 56436207
17 RPS26 NM_001029.4(RPS26): c.4-2A> T single nucleotide variant Pathogenic rs786203998 GRCh38 Chromosome 12, 56042423: 56042423
18 RPS26 NM_001029.4(RPS26): c.55C> T (p.Gln19Ter) single nucleotide variant Pathogenic rs797045919 GRCh37 Chromosome 12, 56436260: 56436260
19 RPS26 NM_001029.4(RPS26): c.55C> T (p.Gln19Ter) single nucleotide variant Pathogenic rs797045919 GRCh38 Chromosome 12, 56042476: 56042476
20 RPS26 NM_001029.4(RPS26): c.327T> A (p.Arg109=) single nucleotide variant Benign rs56696262 GRCh37 Chromosome 12, 56437917: 56437917
21 RPS26 NM_001029.4(RPS26): c.327T> A (p.Arg109=) single nucleotide variant Benign rs56696262 GRCh38 Chromosome 12, 56044133: 56044133
22 RPS26 NM_001029.4(RPS26): c.224_225delTG (p.Val75Glufs) deletion Likely pathogenic GRCh38 Chromosome 12, 56043405: 56043406
23 RPS26 NM_001029.4(RPS26): c.224_225delTG (p.Val75Glufs) deletion Likely pathogenic GRCh37 Chromosome 12, 56437189: 56437190

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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9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
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28 GO
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69 SNOMED-CT via HPO
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71 TGDB
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74 UMLS via Orphanet
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