MCID: DMN040
MIFTS: 22

Diamond-Blackfan Anemia 16

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

Aliases & Classifications for Diamond-Blackfan Anemia 16

MalaCards integrated aliases for Diamond-Blackfan Anemia 16:

Name: Diamond-Blackfan Anemia 16 54 71 29
Dba16 71

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
based on report of 1 patient (last curated march 2017)
diagnosed at birth


Classifications:



External Ids:

OMIM 54 617408
MedGen 40 CN241838
MeSH 42 D029503

Summaries for Diamond-Blackfan Anemia 16

UniProtKB/Swiss-Prot : 71 Diamond-Blackfan anemia 16: 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.

MalaCards based summary : Diamond-Blackfan Anemia 16, is also known as dba16. An important gene associated with Diamond-Blackfan Anemia 16 is RPL27 (Ribosomal Protein L27). The drugs Iron and Deferasirox have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and liver.

Description from OMIM: 617408

Symptoms & Phenotypes for Diamond-Blackfan Anemia 16

Symptoms via clinical synopsis from OMIM:

54

Hematology:
anemia
hypercellularity of bone marrow

Cardiovascular- Vascular:
pulmonary stenosis

Cardiovascular- Heart:
atrial septal defect


Clinical features from OMIM:

617408

Drugs & Therapeutics for Diamond-Blackfan Anemia 16

Drugs for Diamond-Blackfan Anemia 16 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 62)
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 Chelating Agents Phase 3
4 Iron Chelating Agents Phase 3
5
alemtuzumab Approved, Investigational Phase 2 216503-57-0
6
Busulfan Approved, Investigational Phase 2 55-98-1 2478
7
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
8
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
9
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
10
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
11
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
12
Vidarabine Approved Phase 2 24356-66-9 32326 21704
13
Everolimus Approved Phase 2 159351-69-6 6442177
14
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030 46835353
15
Mechlorethamine Approved Phase 2 51-75-2 4033
16
Melphalan Approved Phase 2 148-82-3 4053 460612
17
Mycophenolate mofetil Approved, Investigational Phase 2 128794-94-5 5281078
18
Mycophenolic acid Approved Phase 2 24280-93-1 446541
19
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492
20
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
21
leucovorin Approved, Nutraceutical Phase 2 58-05-9 143 6006
22 Alkylating Agents Phase 2
23 Antiemetics Phase 2
24 Antifungal Agents Phase 2
25 Anti-Infective Agents Phase 2
26 Anti-Inflammatory Agents Phase 2
27 Antimetabolites Phase 2
28 Antimetabolites, Antineoplastic Phase 2
29 Antineoplastic Agents, Hormonal Phase 2
30 Antirheumatic Agents Phase 2
31 Antiviral Agents Phase 2
32 Autonomic Agents Phase 2
33 Calcineurin Inhibitors Phase 2
34 Cyclosporins Phase 2
35 Dermatologic Agents Phase 2
36 Folic Acid Antagonists Phase 2
37 Gastrointestinal Agents Phase 2
38 glucocorticoids Phase 2
39 Hormone Antagonists Phase 2
40 Hormones Phase 2
41 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
42 Immunosuppressive Agents Phase 2
43 Methylprednisolone acetate Phase 2
44 Methylprednisolone Hemisuccinate Phase 2
45 Neuroprotective Agents Phase 2
46 Nucleic Acid Synthesis Inhibitors Phase 2
47 Peripheral Nervous System Agents Phase 2
48 Prednisolone acetate Phase 2
49 Prednisolone hemisuccinate Phase 2
50 Prednisolone phosphate Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 A Study Assessing the Efficacy and Safety of Deferasirox in Patients With Transfusion-dependent Iron Overload Completed NCT00171821 Phase 3 Deferasirox
2 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
3 Improving the Results of Bone Marrow Transplantation for Patients With Severe Congenital Anemias Recruiting NCT00061568 Phase 2 Alemtuzumab (Campath );Sirolimus (Rapamune )
4 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
5 Multi-Center Study of Iron Overload: Pilot Study Unknown status NCT01114776
6 Multi-Center Study of Iron Overload: Survey Study (MCSIO) Unknown status NCT01913548
7 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 16

Genetic Tests for Diamond-Blackfan Anemia 16

Genetic tests related to Diamond-Blackfan Anemia 16:

id Genetic test Affiliating Genes
1 Diamond-Blackfan Anemia 16 29

Anatomical Context for Diamond-Blackfan Anemia 16

MalaCards organs/tissues related to Diamond-Blackfan Anemia 16:

39
Bone, Bone Marrow, Liver

Publications for Diamond-Blackfan Anemia 16

Variations for Diamond-Blackfan Anemia 16

ClinVar genetic disease variations for Diamond-Blackfan Anemia 16:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 RPL27 NM_000988.4(RPL27): c.-2-1G> A single nucleotide variant Pathogenic rs1085307119 GRCh37 Chromosome 17, 41150765: 41150765

Expression for Diamond-Blackfan Anemia 16

Search GEO for disease gene expression data for Diamond-Blackfan Anemia 16.

Pathways for Diamond-Blackfan Anemia 16

GO Terms for Diamond-Blackfan Anemia 16

Sources for Diamond-Blackfan Anemia 16

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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