MCID: DMN006
MIFTS: 30

Diamond-Blackfan Anemia 3

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

Aliases & Classifications for Diamond-Blackfan Anemia 3

MalaCards integrated aliases for Diamond-Blackfan Anemia 3:

Name: Diamond-Blackfan Anemia 3 54 50 71 29 13
Dba3 50 71
Anemia, Diamond-Blackfan, 3 69
Anemia Diamond-Blackfan 3 50

Characteristics:

OMIM:

54
Miscellaneous:
limited clinical information available
some patients steroid dependent

Inheritance:
autosomal dominant


HPO:

32
diamond-blackfan anemia 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 610629
MedGen 40 C1857719
MeSH 42 D029503

Summaries for Diamond-Blackfan Anemia 3

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). (610629)

MalaCards based summary : Diamond-Blackfan Anemia 3, also known as dba3, is related to rps24-related diamond-blackfan anemia, and has symptoms including increased mean corpuscular volume, reticulocytopenia and macrocytic anemia. An important gene associated with Diamond-Blackfan Anemia 3 is RPS24 (Ribosomal Protein S24). The drugs Busulfan and Fludarabine have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and heart.

UniProtKB/Swiss-Prot : 71 Diamond-Blackfan anemia 3: 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 developing leukemia. 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 3

Symptoms via clinical synopsis from OMIM:

54

Laboratory- Abnormalities:
elevated fetal hemoglobin (hbf)
elevated mean corpuscular volume
elevated erythrocyte adenosine deaminase (eada)

Head And Neck- Neck:
webbed neck

Hematology:
anemia, normochromic


Clinical features from OMIM:

610629

Human phenotypes related to Diamond-Blackfan Anemia 3:

32
id Description HPO Frequency HPO Source Accession
1 increased mean corpuscular volume 32 HP:0005518
2 reticulocytopenia 32 HP:0001896
3 macrocytic anemia 32 HP:0001972
4 persistence of hemoglobin f 32 HP:0011904

Drugs & Therapeutics for Diamond-Blackfan Anemia 3

Drugs for Diamond-Blackfan Anemia 3 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 76)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Busulfan Approved, Investigational Phase 2, Phase 3, Phase 1, Early Phase 1 55-98-1 2478
2
Fludarabine Approved Phase 2, Phase 3, Phase 1, Early Phase 1 21679-14-1, 75607-67-9 30751
3
Vidarabine Approved Phase 2, Phase 3, Early Phase 1 24356-66-9 32326 21704
4
Deferasirox Approved, Investigational Phase 3 201530-41-8 5493381
5
Iron Approved Phase 3 7439-89-6 23925
6
alemtuzumab Approved, Investigational Phase 2, Phase 3 216503-57-0
7
Lenograstim Approved Phase 2, Phase 3 135968-09-1
8
Cyclophosphamide Approved, Investigational Phase 2, Phase 3,Early Phase 1 50-18-0, 6055-19-2 2907
9 Orange Approved, Nutraceutical Phase 3
10 Alkylating Agents Phase 2, Phase 3, Phase 1, Early Phase 1
11 Anti-Infective Agents Phase 2, Phase 3, Phase 1, Early Phase 1
12 Antilymphocyte Serum Phase 2, Phase 3, Phase 1
13 Antimetabolites Phase 2, Phase 3, Phase 1, Early Phase 1
14 Antimetabolites, Antineoplastic Phase 2, Phase 3, Phase 1, Early Phase 1
15 Antiviral Agents Phase 2, Phase 3, Early Phase 1
16 Immunosuppressive Agents Phase 2, Phase 3, Phase 1, Early Phase 1
17 Chelating Agents Phase 3
18 Iron Chelating Agents Phase 3
19 Micronutrients Phase 3
20 Trace Elements Phase 3
21 Adjuvants, Immunologic Phase 2, Phase 3
22 Antirheumatic Agents Phase 2, Phase 3,Early Phase 1
23
rituximab Approved Phase 2 174722-31-7 10201696
24
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
25
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
26
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
27
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
28
Melphalan Approved Phase 2 148-82-3 4053 460612
29
Mycophenolate mofetil Approved, Investigational Phase 2 128794-94-5 5281078
30
Mycophenolic acid Approved Phase 2 24280-93-1 446541
31
Prednisone Approved, Vet_approved Phase 1, Phase 2 53-03-2 5865
32
Mechlorethamine Approved Phase 2 51-75-2 4033
33
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492
34
Daclizumab Approved, Investigational Phase 2 152923-56-3
35
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
36
leucovorin Approved, Nutraceutical Phase 2 58-05-9 143 6006
37 Antibodies Phase 2
38 Antibodies, Monoclonal Phase 2
39 Immunoglobulins Phase 2
40 Antiemetics Phase 2
41 Antifungal Agents Phase 2
42 Anti-Inflammatory Agents Phase 2,Phase 1
43 Antineoplastic Agents, Hormonal Phase 2,Phase 1
44 Autonomic Agents Phase 2
45 Calcineurin Inhibitors Phase 2
46 Cyclosporins Phase 2
47 Dermatologic Agents Phase 2
48 Folic Acid Antagonists Phase 2
49 Gastrointestinal Agents Phase 2
50 glucocorticoids Phase 2,Phase 1

Interventional clinical trials:

(show all 21)

id Name Status NCT ID Phase Drugs
1 Stem Cell Transplant for Bone Marrow Failure Syndromes Completed NCT00176878 Phase 2, Phase 3 Fludarabine monophosphate;Busulfan
2 Expanded Access of Deferasirox to Patients With Congenital Disorders of Red Blood Cells and Chronic Iron Overload Completed NCT00235391 Phase 3 Deferasirox
3 A Study Assessing the Efficacy and Safety of Deferasirox in Patients With Transfusion-dependent Iron Overload Completed NCT00171821 Phase 3 Deferasirox
4 Stem Cell Transplant for Hemoglobinopathy Active, not recruiting NCT00176852 Phase 2, Phase 3 Busulfan, Fludarabine, ATG, TLI;Busulfan, Cyclophosphamide, ATG, GCSF;Campath, Fludarabine, Cyclophosphamide
5 L-leucine in Diamond Blackfan Anemia Patients Unknown status NCT02386267 Phase 2 L-leucine
6 Mobile Technology and Online Tools to Improve Asthma Control in Adolescents Completed NCT02835300 Phase 2
7 Rituximab to Treat Moderate Aplastic Anemia, Pure Red Cell Aplasia, or Diamond Blackfan Anemia Completed NCT00229619 Phase 2 Rituximab
8 Mobilization of Stem Cells With G-CSF for Collection From Patients With Diamond-Blackfan Anemia Completed NCT00011505 Phase 2 G-CSF
9 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
10 Busulfan, Antithymocyte Globulin, and Fludarabine Followed By a Donor Stem Cell Transplant in Treating Young Patients With Blood Disorders, Bone Marrow Disorders, Chronic Myelogenous Leukemia in First Chronic Phase, or Acute Myeloid Leukemia in First Remi Completed NCT00305708 Phase 1, Phase 2 busulfan;fludarabine phosphate
11 Arise: An Online Relapse Prevention Tool for Adolescent Substance Abusers Recruiting NCT02715557 Phase 2
12 Safety and Efficacy Study of Sotatercept in Adults With Transfusion Dependent Diamond Blackfan Anemia Recruiting NCT01464164 Phase 1, Phase 2 Sotatercept;Sotatercept with prednisone boost
13 Pilot Phase I/II Study of Amino Acid Leucine in Treatment of Patients With Transfusion-Dependent Diamond Blackfan Anemia Active, not recruiting NCT01362595 Phase 1, Phase 2 leucine
14 Fludarabine Phosphate, Melphalan, and Low-Dose Total-Body Irradiation Followed by Donor Peripheral Blood Stem Cell Transplant in Treating Patients With Hematologic Malignancies Active, not recruiting NCT01529827 Phase 2 fludarabine phosphate;melphalan;tacrolimus;mycophenolate mofetil;methotrexate
15 Related Hematopoietic Stem Cell Transplantation (HSCT) for Genetic Diseases of Blood Cells Terminated NCT02512679 Phase 2 Cyclophosphamide Dose Level 1;Cyclophosphamide Dose Level 2;Cyclophosphamide Dose Level 3;Cyclophosphamide Dose Level 4
16 Allo-HCT MUD for Non-malignant Red Blood Cell (RBC) Disorders: Sickle Cell, Thal, and DBA: Reduced Intensity Conditioning, Co-tx MSCs Terminated NCT00957931 Phase 2
17 A Study to Determine Whether Therapy With Daclizumab Will Benefit Patients With Bone Marrow Failure Terminated NCT00001962 Phase 2 Daclizumab
18 Pilot Lenalidomide in Adult Diamond-Blackfan Anemia Patients w/ RBC Transfusion-Dependent Anemia Terminated NCT01034592 Phase 1 Lenalidomide
19 Partially Matched Stem Cell Transplantation for Patients With Refractory Severe Aplastic Anemia or Refractory Cytopenias Completed NCT00244010
20 Fludarabine Based RIC for Bone Marrow Failure Syndromes Recruiting NCT02928991 Early Phase 1
21 Donor Umbilical Cord Blood Transplant in Treating Patients With Hematologic Cancer Terminated NCT00290628 anti-thymocyte globulin;busulfan;cyclophosphamide;cyclosporine;filgrastim;melphalan;methylprednisolone;mycophenolate mofetil

Search NIH Clinical Center for Diamond-Blackfan Anemia 3

Genetic Tests for Diamond-Blackfan Anemia 3

Genetic tests related to Diamond-Blackfan Anemia 3:

id Genetic test Affiliating Genes
1 Diamond-Blackfan Anemia 3 29

Anatomical Context for Diamond-Blackfan Anemia 3

MalaCards organs/tissues related to Diamond-Blackfan Anemia 3:

39
Bone, Bone Marrow, Heart, Myeloid

Publications for Diamond-Blackfan Anemia 3

Variations for Diamond-Blackfan Anemia 3

ClinVar genetic disease variations for Diamond-Blackfan Anemia 3:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 RPS24 NM_033022.3(RPS24): c.316C> T (p.Gln106Ter) single nucleotide variant Pathogenic rs104894188 GRCh37 Chromosome 10, 79796988: 79796988
2 RPS24 NM_033022.3(RPS24): c.46C> T (p.Arg16Ter) single nucleotide variant Pathogenic rs104894189 GRCh37 Chromosome 10, 79795152: 79795152
3 RPS24 NM_033022.3(RPS24): c.4_6delAACinsTACGGATAG (p.Asn2_Lys130delinsTyrGly) indel Pathogenic rs116840806 GRCh37 Chromosome 10, 79795110: 79795112
4 RPS24 NM_007055.3(POLR3A): c.-6128_-995del deletion Pathogenic GRCh37 Chromosome 10, 79790160: 79795293

Expression for Diamond-Blackfan Anemia 3

Search GEO for disease gene expression data for Diamond-Blackfan Anemia 3.

Pathways for Diamond-Blackfan Anemia 3

GO Terms for Diamond-Blackfan Anemia 3

Sources for Diamond-Blackfan Anemia 3

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
Content
Loading form....