MCID: DMN017
MIFTS: 32

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 54 71 29 13 69
Dba10 71

Characteristics:

OMIM:

54
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 : 54
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 rps26-related diamond-blackfan anemia, and has symptoms including short stature, low-set ears and micrognathia. An important gene associated with Diamond-Blackfan Anemia 10 is RPS26 (Ribosomal Protein S26). The drugs Iron and Deferasirox have been mentioned in the context of this disorder. 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.

Symptoms & Phenotypes for Diamond-Blackfan Anemia 10

Symptoms via clinical synopsis from OMIM:

54

Growth- Height:
short stature (in some patients)

Cardiovascular- Heart:
ventricular septal defect (in some patients)

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

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

Chest- Diaphragm:
diaphragmatic hernia (in some patients)

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

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

Hematology:
increased fetal hemoglobin
reticulocytopenia
macrocytic anemia
increased erythrocyte adenosine deaminase activity
bone marrow shows decreased erythroid progenitors

Cardiovascular- Vascular:
patent ductus arteriosus (in some patients)

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

Growth- Other:
poor growth (in some patients)

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

Drugs & Therapeutics for Diamond-Blackfan Anemia 10

Drugs for Diamond-Blackfan Anemia 10 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 64)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iron Approved Phase 3 7439-89-6 23925
2
Deferasirox Approved, Investigational Phase 3 201530-41-8 5493381
3
Busulfan Approved, Investigational Phase 2, Phase 3,Phase 1,Early Phase 1 55-98-1 2478
4
Fludarabine Approved Phase 2, Phase 3, Phase 1, Early Phase 1 21679-14-1, 75607-67-9 30751
5
Vidarabine Approved Phase 2, Phase 3,Early Phase 1 24356-66-9 32326 21704
6 Orange Approved, Nutraceutical Phase 3
7 Chelating Agents Phase 3
8 Iron Chelating Agents Phase 3
9 Micronutrients Phase 3
10 Trace Elements Phase 3
11 Alkylating Agents Phase 2, Phase 3,Phase 1,Early Phase 1
12 Anti-Infective Agents Phase 2, Phase 3,Early Phase 1
13 Antilymphocyte Serum Phase 2, Phase 3
14 Antimetabolites Phase 2, Phase 3,Phase 1,Early Phase 1
15 Antimetabolites, Antineoplastic Phase 2, Phase 3,Phase 1,Early Phase 1
16 Antiviral Agents Phase 2, Phase 3,Early Phase 1
17 Immunosuppressive Agents Phase 2, Phase 3,Phase 1,Early Phase 1
18
Lenograstim Approved Phase 2 135968-09-1
19
alemtuzumab Approved, Investigational Phase 2,Phase 1 216503-57-0
20
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
21
Methylprednisolone Approved, Vet_approved Phase 2,Phase 1 83-43-2 6741
22
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
23
Prednisolone Approved, Vet_approved Phase 2,Phase 1 50-24-8 5755
24
Cyclophosphamide Approved, Investigational Phase 1, Phase 2,Early Phase 1 50-18-0, 6055-19-2 2907
25
Everolimus Approved Phase 1, Phase 2 159351-69-6 6442177
26
Melphalan Approved Phase 1, Phase 2 148-82-3 4053 460612
27
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 5284616 6436030 46835353
28
Tacrolimus Approved, Investigational Phase 1, Phase 2 104987-11-3 445643 439492
29 Thiotepa Approved Phase 1, Phase 2 52-24-4 5453
30
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
31
leucovorin Approved, Nutraceutical Phase 2 58-05-9 143 6006
32 Liver Extracts Phase 1, Phase 2
33 Adjuvants, Immunologic Phase 2
34 Antiemetics Phase 2,Phase 1
35 Antifungal Agents Phase 2
36 Anti-Inflammatory Agents Phase 2,Phase 1
37 Antineoplastic Agents, Hormonal Phase 2,Phase 1
38 Antirheumatic Agents Phase 2,Phase 1,Early Phase 1
39 Autonomic Agents Phase 2,Phase 1
40 Calcineurin Inhibitors Phase 2,Phase 1
41 Cyclosporins Phase 2,Phase 1
42 Dermatologic Agents Phase 2
43 Folic Acid Antagonists Phase 2
44 Gastrointestinal Agents Phase 2,Phase 1
45 glucocorticoids Phase 2,Phase 1
46 Hormone Antagonists Phase 2,Phase 1
47 Hormones Phase 2,Phase 1
48 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2,Phase 1
49 Methylprednisolone acetate Phase 2,Phase 1
50 Methylprednisolone Hemisuccinate Phase 2,Phase 1

Interventional clinical trials:

(show all 13)

id Name Status NCT ID Phase Drugs
1 Expanded Access of Deferasirox to Patients With Congenital Disorders of Red Blood Cells and Chronic Iron Overload Completed NCT00235391 Phase 3 Deferasirox
2 Stem Cell Transplant for Bone Marrow Failure Syndromes Completed NCT00176878 Phase 2, Phase 3 Fludarabine monophosphate;Busulfan
3 Mobilization of Stem Cells With G-CSF for Collection From Patients With Diamond-Blackfan Anemia Completed NCT00011505 Phase 2 G-CSF
4 Alemtuzumab, Fludarabine, and Busulfan Followed By Donor Stem Cell Transplant in Treating Young Patients With Hematologic Disorders Completed NCT00301834 Phase 2 busulfan;cyclosporine;fludarabine phosphate;methotrexate;methylprednisolone
5 CD34+ (Malignant) Stem Cell Selection for Patients Receiving Allogenic Stem Cell Transplant Recruiting NCT02061800 Phase 1, Phase 2 Thiotepa;Cyclophosphamide;Alemtuzumab;Tacrolimus;Melphalan;Busulfan;Fludarabine;Methylprednisolone
6 BMT Abatacept for Non-Malignant Diseases Recruiting NCT01917708 Phase 1 Abatacept
7 Multi-Center Study of Iron Overload: Pilot Study Unknown status NCT01114776
8 Multi-Center Study of Iron Overload: Survey Study (MCSIO) Unknown status NCT01913548
9 Hematopoietic Stem Cell Transplant for High Risk Hemoglobinopathies Recruiting NCT02179359 Reduced Toxicity Ablative Regimen;Reduced Intensity Preparative Regimen;Myeloablative Preparative Regimen
10 Fludarabine Based RIC for Bone Marrow Failure Syndromes Recruiting NCT02928991 Early Phase 1
11 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
12 Bone Marrow and Kidney Transplant for Patients With Chronic Kidney Disease and Blood Disorders Recruiting NCT01758042
13 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:

id Genetic test Affiliating Genes
1 Diamond-Blackfan Anemia 10 29

Anatomical Context for Diamond-Blackfan Anemia 10

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

39
Bone, Bone Marrow, Heart, Kidney, Liver

Publications for Diamond-Blackfan Anemia 10

Variations for Diamond-Blackfan Anemia 10

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

71
id 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
id Gene Variation Type Significance SNP ID Assembly Location
1 RPS26 NM_001029.4(RPS26): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs143951267 GRCh37 Chromosome 12, 56435951: 56435951
2 RPS26 NM_001029.4(RPS26): c.1A> T (p.Met1Leu) single nucleotide variant Pathogenic rs143951267 GRCh37 Chromosome 12, 56435951: 56435951
3 RPS26 NM_001029.4(RPS26): c.97G> A (p.Asp33Asn) single nucleotide variant Pathogenic rs267607023 GRCh37 Chromosome 12, 56436302: 56436302
4 RPS26 NM_001029.4(RPS26): c.31dup (p.Ala11Glyfs) duplication Pathogenic rs786200892 GRCh38 Chromosome 12, 56042452: 56042452
5 RPS26 NM_001029.4(RPS26): c.3+1G> A single nucleotide variant Pathogenic rs148622862 GRCh37 Chromosome 12, 56435954: 56435954
6 RPS26 NC_000012.12: g.56031044_56051500del20457 deletion Pathogenic GRCh37 Chromosome 12, 56424828: 56445284
7 RPS26 NM_001029.4(RPS26): c.259C> T (p.Arg87Ter) single nucleotide variant Pathogenic rs148942765 GRCh37 Chromosome 12, 56437224: 56437224
8 RPS26 NM_001029.4(RPS26): c.4-2A> T single nucleotide variant Pathogenic rs786203998 GRCh37 Chromosome 12, 56436207: 56436207
9 RPS26 NM_001029.4(RPS26): c.55C> T (p.Gln19Ter) single nucleotide variant Pathogenic rs797045919 GRCh38 Chromosome 12, 56042476: 56042476

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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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