MCID: DMN028
MIFTS: 28

Diamond-Blackfan Anemia 12

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

Aliases & Classifications for Diamond-Blackfan Anemia 12

MalaCards integrated aliases for Diamond-Blackfan Anemia 12:

Name: Diamond-Blackfan Anemia 12 54 71 29 69
Dba12 71

Characteristics:

OMIM:

54
Miscellaneous:
based on report of 1 patient (last curated november 2013)

Inheritance:
autosomal dominant


HPO:

32
diamond-blackfan anemia 12:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Diamond-Blackfan Anemia 12

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 DBA, see DBA1 (105650). (615550)

MalaCards based summary : Diamond-Blackfan Anemia 12, also known as dba12, is related to rpl15-related diamond-blackfan anemia, and has symptoms including ventricular septal defect, reticulocytopenia and normochromic anemia. An important gene associated with Diamond-Blackfan Anemia 12 is RPL15 (Ribosomal Protein L15). The drugs Deferasirox and Deferoxamine have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and heart.

UniProtKB/Swiss-Prot : 71 Diamond-Blackfan anemia 12: 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 12

Symptoms via clinical synopsis from OMIM:

54

Laboratory- Abnormalities:
elevated erythrocyte adenosine deaminase activity

Skeletal- Hands:
triphalangeal thumbs

Hematology:
reticulocytopenia
reduced or absent erythroid precursors in bone marrow
macrocytic anemia
normochromic anemia

Cardiovascular- Heart:
ventricular septal defect


Clinical features from OMIM:

615550

Human phenotypes related to Diamond-Blackfan Anemia 12:

32 (show all 6)
id Description HPO Frequency HPO Source Accession
1 ventricular septal defect 32 HP:0001629
2 reticulocytopenia 32 HP:0001896
3 normochromic anemia 32 HP:0001895
4 macrocytic anemia 32 HP:0001972
5 triphalangeal thumb 32 HP:0001199
6 elevated red cell adenosine deaminase activity 32 HP:0030270

Drugs & Therapeutics for Diamond-Blackfan Anemia 12

Drugs for Diamond-Blackfan Anemia 12 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 65)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Deferasirox Approved, Investigational Phase 2 201530-41-8 5493381
2
Deferoxamine Approved, Investigational Phase 2 70-51-9 2973
3
Iron Approved Phase 2 7439-89-6 23925
4
alemtuzumab Approved, Investigational Phase 2 216503-57-0
5
Busulfan Approved, Investigational Phase 2,Phase 1,Early Phase 1 55-98-1 2478
6
Fludarabine Approved Phase 2,Phase 1,Early Phase 1 21679-14-1, 75607-67-9 30751
7
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
8
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
9
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
10
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
11
Vidarabine Approved Phase 2,Early Phase 1 24356-66-9 32326 21704
12
Mycophenolate mofetil Approved, Investigational Phase 2 128794-94-5 5281078
13
Mycophenolic acid Approved Phase 2 24280-93-1 446541
14
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492
15
Mechlorethamine Approved Phase 2 51-75-2 4033
16
Melphalan Approved Phase 2 148-82-3 4053 460612
17
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
18
leucovorin Approved, Nutraceutical Phase 2 58-05-9 143 6006
19
Treosulfan Investigational Phase 2 299-75-2 9296
20 Chelating Agents Phase 2
21 Iron Chelating Agents Phase 2
22 Liver Extracts Phase 2
23 Micronutrients Phase 2
24 Trace Elements Phase 2
25 Alkylating Agents Phase 2,Phase 1,Early Phase 1
26 Antiemetics Phase 2
27 Antifungal Agents Phase 2
28 Anti-Infective Agents Phase 2,Early Phase 1
29 Anti-Inflammatory Agents Phase 2
30 Antimetabolites Phase 2,Phase 1,Early Phase 1
31 Antimetabolites, Antineoplastic Phase 2,Phase 1,Early Phase 1
32 Antineoplastic Agents, Hormonal Phase 2
33 Antirheumatic Agents Phase 2,Early Phase 1
34 Antiviral Agents Phase 2,Early Phase 1
35 Autonomic Agents Phase 2
36 Calcineurin Inhibitors Phase 2
37 Cyclosporins Phase 2
38 Dermatologic Agents Phase 2
39 Folic Acid Antagonists Phase 2
40 Gastrointestinal Agents Phase 2
41 glucocorticoids Phase 2
42 Hormone Antagonists Phase 2
43 Hormones Phase 2
44 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
45 Immunosuppressive Agents Phase 2,Phase 1,Early Phase 1
46 Methylprednisolone acetate Phase 2
47 Methylprednisolone Hemisuccinate Phase 2
48 Neuroprotective Agents Phase 2
49 Nucleic Acid Synthesis Inhibitors Phase 2
50 Peripheral Nervous System Agents Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Evaluating Use of Deferasirox as Compared to Deferoxamine in Treating Cardiac Iron Overload Completed NCT00600938 Phase 2 Core Study: Deferasirox;Core Study: Deferoxamine;Extension: deferoxamine to deferasirox;Extension: deferasirox to deferoxamine;Deferasirox;Deferoxamine
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 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
4 Treosulfan and Fludarabine Phosphate Before Donor Stem Cell Transplant in Treating Patients With Nonmalignant Inherited Disorders Recruiting NCT00919503 Phase 2 Cyclosporine;Fludarabine Phosphate;Methotrexate;Mycophenolate Mofetil;Tacrolimus;Treosulfan
5 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
6 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
7 Hematopoietic Stem Cell Transplant for High Risk Hemoglobinopathies Recruiting NCT02179359 Reduced Toxicity Ablative Regimen;Reduced Intensity Preparative Regimen;Myeloablative Preparative Regimen
8 Fludarabine Based RIC for Bone Marrow Failure Syndromes Recruiting NCT02928991 Early Phase 1
9 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 12

Genetic Tests for Diamond-Blackfan Anemia 12

Genetic tests related to Diamond-Blackfan Anemia 12:

id Genetic test Affiliating Genes
1 Diamond-Blackfan Anemia 12 29

Anatomical Context for Diamond-Blackfan Anemia 12

MalaCards organs/tissues related to Diamond-Blackfan Anemia 12:

39
Bone, Bone Marrow, Heart, Liver, Myeloid

Publications for Diamond-Blackfan Anemia 12

Variations for Diamond-Blackfan Anemia 12

ClinVar genetic disease variations for Diamond-Blackfan Anemia 12:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 RPL15 NM_020345.3(NKIRAS1): c.-4414_-2022del deletion Pathogenic GRCh37 Chromosome 3, 23960157: 23962549

Expression for Diamond-Blackfan Anemia 12

Search GEO for disease gene expression data for Diamond-Blackfan Anemia 12.

Pathways for Diamond-Blackfan Anemia 12

GO Terms for Diamond-Blackfan Anemia 12

Sources for Diamond-Blackfan Anemia 12

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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