MCID: DMN019
MIFTS: 29

Diamond-Blackfan Anemia 4

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

Aliases & Classifications for Diamond-Blackfan Anemia 4

MalaCards integrated aliases for Diamond-Blackfan Anemia 4:

Name: Diamond-Blackfan Anemia 4 54 71 29 13 69
Dba4 71

Characteristics:

OMIM:

54
Miscellaneous:
some patients are steroid responsive
onset at birth or in infancy

Inheritance:
autosomal dominant


HPO:

32
diamond-blackfan anemia 4:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 612527
MedGen 40 C2675860
MeSH 42 D029503

Summaries for Diamond-Blackfan Anemia 4

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). (612527)

MalaCards based summary : Diamond-Blackfan Anemia 4, also known as dba4, is related to rps17-related diamond-blackfan anemia, and has symptoms including reticulocytopenia, macrocytic anemia and erythroid hypoplasia. An important gene associated with Diamond-Blackfan Anemia 4 is RPS17 (Ribosomal Protein S17). The drugs Deferasirox and Iron have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and heart.

UniProtKB/Swiss-Prot : 71 Diamond-Blackfan anemia 4: 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 4

Symptoms via clinical synopsis from OMIM:

54

Laboratory- Abnormalities:
elevated erythrocyte adenosine deaminase (eada)

Skeletal- Hands:
flat thenar

Head And Neck- Face:
facial dysmorphism

Growth- Height:
short stature

Hematology:
moderate iron overload
neutropenia
anemia, macrocytic

Cardiovascular- Heart:
atrial septal defect

Growth- Other:
growth retardation


Clinical features from OMIM:

612527

Human phenotypes related to Diamond-Blackfan Anemia 4:

32
id Description HPO Frequency HPO Source Accession
1 reticulocytopenia 32 HP:0001896
2 macrocytic anemia 32 HP:0001972
3 erythroid hypoplasia 32 HP:0012133

Drugs & Therapeutics for Diamond-Blackfan Anemia 4

Drugs for Diamond-Blackfan Anemia 4 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 70)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Deferasirox Approved, Investigational Phase 4 201530-41-8 5493381
2
Iron Approved Phase 4 7439-89-6 23925
3 Chelating Agents Phase 4
4 Iron Chelating Agents Phase 4
5 Liver Extracts Phase 4
6 Micronutrients Phase 4
7 Trace Elements Phase 4
8
Busulfan Approved, Investigational Phase 2, Phase 3, Phase 1 55-98-1 2478
9
Fludarabine Approved Phase 2, Phase 3, Phase 1 21679-14-1, 75607-67-9 30751
10
Vidarabine Approved Phase 2, Phase 3 24356-66-9 32326 21704
11
alemtuzumab Approved, Investigational Phase 2, Phase 3 216503-57-0
12
Lenograstim Approved Phase 2, Phase 3 135968-09-1
13
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
14 Alkylating Agents Phase 2, Phase 3, Phase 1
15 Anti-Infective Agents Phase 2, Phase 3
16 Antilymphocyte Serum Phase 2, Phase 3, Phase 1
17 Antimetabolites Phase 2, Phase 3, Phase 1
18 Antimetabolites, Antineoplastic Phase 2, Phase 3, Phase 1
19 Antiviral Agents Phase 2, Phase 3
20 Immunosuppressive Agents Phase 2, Phase 3, Phase 1
21 Adjuvants, Immunologic Phase 2, Phase 3
22 Antirheumatic Agents Phase 2, Phase 3,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
Prednisone Approved, Vet_approved Phase 1, Phase 2 53-03-2 5865
29
Mycophenolate mofetil Approved, Investigational Phase 2,Phase 1 128794-94-5 5281078
30
Mycophenolic acid Approved Phase 2,Phase 1 24280-93-1 446541
31
Mechlorethamine Approved Phase 2 51-75-2 4033
32
Melphalan Approved Phase 2 148-82-3 4053 460612
33
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492
34
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
35
leucovorin Approved, Nutraceutical Phase 2 58-05-9 143 6006
36 Antibodies Phase 2
37 Antibodies, Monoclonal Phase 2
38 Immunoglobulins Phase 2
39 Antiemetics Phase 2
40 Antifungal Agents Phase 2
41 Anti-Inflammatory Agents Phase 2,Phase 1
42 Antineoplastic Agents, Hormonal Phase 2,Phase 1
43 Autonomic Agents Phase 2
44 Calcineurin Inhibitors Phase 2
45 Cyclosporins Phase 2,Phase 1
46 Dermatologic Agents Phase 2
47 Folic Acid Antagonists Phase 2
48 Gastrointestinal Agents Phase 2
49 glucocorticoids Phase 2,Phase 1
50 Hormone Antagonists Phase 2,Phase 1

Interventional clinical trials:

(show all 11)

id Name Status NCT ID Phase Drugs
1 Magnetic Resonance Imaging (MRI) Assessments of the Heart and Liver Iron Load in Patients With Transfusion Induced Iron Overload Completed NCT00673608 Phase 4 deferasirox
2 Stem Cell Transplant for Bone Marrow Failure Syndromes Completed NCT00176878 Phase 2, Phase 3 Fludarabine monophosphate;Busulfan
3 Stem Cell Transplant for Hemoglobinopathy Active, not recruiting NCT00176852 Phase 2, Phase 3 Busulfan, Fludarabine, ATG, TLI;Busulfan, Cyclophosphamide, ATG, GCSF;Campath, Fludarabine, Cyclophosphamide
4 Mobilization of Stem Cells With G-CSF for Collection From Patients With Diamond-Blackfan Anemia Completed NCT00011505 Phase 2 G-CSF
5 Rituximab to Treat Moderate Aplastic Anemia, Pure Red Cell Aplasia, or Diamond Blackfan Anemia Completed NCT00229619 Phase 2 Rituximab
6 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
7 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
8 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
9 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
10 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
11 BMT Abatacept for Non-Malignant Diseases Recruiting NCT01917708 Phase 1 Abatacept

Search NIH Clinical Center for Diamond-Blackfan Anemia 4

Genetic Tests for Diamond-Blackfan Anemia 4

Genetic tests related to Diamond-Blackfan Anemia 4:

id Genetic test Affiliating Genes
1 Diamond-Blackfan Anemia 4 29

Anatomical Context for Diamond-Blackfan Anemia 4

MalaCards organs/tissues related to Diamond-Blackfan Anemia 4:

39
Bone, Bone Marrow, Heart, Liver, Myeloid

Publications for Diamond-Blackfan Anemia 4

Variations for Diamond-Blackfan Anemia 4

ClinVar genetic disease variations for Diamond-Blackfan Anemia 4:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 RPS17 NM_001021.5(RPS17): c.2T> G (p.Met1Arg) single nucleotide variant Pathogenic rs116840811 GRCh37 Chromosome 15, 82824835: 82824835
2 RPS17 NM_001021.5(RPS17): c.200_201delGA (p.Gly68Tyrfs) deletion Pathogenic rs116840812 GRCh37 Chromosome 15, 82823348: 82823349
3 RPS17 RPS17, 2.9-KB DEL deletion Pathogenic
4 RPS17 NM_001021.5(RPS17): c.159T> G (p.Tyr53Ter) single nucleotide variant Pathogenic rs6991 GRCh37 Chromosome 15, 82823390: 82823390

Expression for Diamond-Blackfan Anemia 4

Search GEO for disease gene expression data for Diamond-Blackfan Anemia 4.

Pathways for Diamond-Blackfan Anemia 4

GO Terms for Diamond-Blackfan Anemia 4

Sources for Diamond-Blackfan Anemia 4

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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