MCID: DMN018
MIFTS: 30

Diamond-Blackfan Anemia 5

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

Aliases & Classifications for Diamond-Blackfan Anemia 5

MalaCards integrated aliases for Diamond-Blackfan Anemia 5:

Name: Diamond-Blackfan Anemia 5 54 71 29 13 69
Dba5 71

Characteristics:

OMIM:

54
Miscellaneous:
subclinical presentation in some patients
some patients are steroid responsive
onset in infancy

Inheritance:
autosomal dominant


Classifications:



Summaries for Diamond-Blackfan Anemia 5

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). (612528)

MalaCards based summary : Diamond-Blackfan Anemia 5, also known as dba5, is related to rpl35a-related diamond-blackfan anemia, and has symptoms including low-set ears, leukopenia and hypertelorism. An important gene associated with Diamond-Blackfan Anemia 5 is RPL35A (Ribosomal Protein L35a). The drugs Busulfan and Cyclophosphamide have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and heart.

UniProtKB/Swiss-Prot : 71 Diamond-Blackfan anemia 5: 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 5

Symptoms via clinical synopsis from OMIM:

54

Laboratory- Abnormalities:
elevated erythrocyte adenosine deaminase (eada)

Growth- Height:
short stature

Hematology:
normocellular marrow with paucity of erythroid precursors
anemia, normochromic macrocytic
reticulocytopenia


Clinical features from OMIM:

612528

Human phenotypes related to Diamond-Blackfan Anemia 5:

32 (show all 8)
id Description HPO Frequency HPO Source Accession
1 low-set ears 32 HP:0000369
2 leukopenia 32 HP:0001882
3 hypertelorism 32 HP:0000316
4 hypospadias 32 HP:0000047
5 global developmental delay 32 HP:0001263
6 ventricular septal defect 32 HP:0001629
7 macrocytic anemia 32 HP:0001972
8 erythroid hypoplasia 32 HP:0012133

Drugs & Therapeutics for Diamond-Blackfan Anemia 5

Drugs for Diamond-Blackfan Anemia 5 (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 55-98-1 2478
2
Cyclophosphamide Approved, Investigational Phase 2, Phase 3,Phase 1 50-18-0, 6055-19-2 2907
3
Lenograstim Approved Phase 2, Phase 3 135968-09-1
4
alemtuzumab Approved, Investigational Phase 2, Phase 3,Phase 1 216503-57-0
5
Fludarabine Approved Phase 2, Phase 3, Phase 1 21679-14-1, 75607-67-9 30751
6
Vidarabine Approved Phase 2, Phase 3 24356-66-9 32326 21704
7 Adjuvants, Immunologic Phase 2, Phase 3
8 Alkylating Agents Phase 2, Phase 3,Phase 1
9 Antirheumatic Agents Phase 2, Phase 3,Phase 1
10 Immunosuppressive Agents Phase 2, Phase 3,Phase 1
11 Antimetabolites Phase 2, Phase 3,Phase 1
12 Antimetabolites, Antineoplastic Phase 2, Phase 3,Phase 1
13 Anti-Infective Agents Phase 2, Phase 3,Phase 1
14 Antilymphocyte Serum Phase 2, Phase 3
15 Antiviral Agents Phase 2, Phase 3
16
Deferasirox Approved, Investigational Phase 2 201530-41-8 5493381
17
Deferoxamine Approved, Investigational Phase 2 70-51-9 2973
18
Iron Approved Phase 2 7439-89-6 23925
19
Prednisone Approved, Vet_approved Phase 1, Phase 2 53-03-2 5865
20
Everolimus Approved Phase 1, Phase 2 159351-69-6 6442177
21
Melphalan Approved Phase 1, Phase 2 148-82-3 4053 460612
22
Methylprednisolone Approved, Vet_approved Phase 1, Phase 2 83-43-2 6741
23
Prednisolone Approved, Vet_approved Phase 1, Phase 2 50-24-8 5755
24
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 5284616 6436030 46835353
25
Tacrolimus Approved, Investigational Phase 1, Phase 2 104987-11-3 445643 439492
26 Thiotepa Approved Phase 1, Phase 2 52-24-4 5453
27
Mycophenolate mofetil Approved, Investigational Phase 2,Phase 1 128794-94-5 5281078
28
Mycophenolic acid Approved Phase 2,Phase 1 24280-93-1 446541
29
Mechlorethamine Approved Phase 2 51-75-2 4033
30
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
31
Daclizumab Approved, Investigational Phase 2 152923-56-3
32
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
33
leucovorin Approved, Nutraceutical Phase 2 58-05-9 143 6006
34 Chelating Agents Phase 2
35 Iron Chelating Agents Phase 2
36 Liver Extracts Phase 2,Phase 1
37 Micronutrients Phase 2
38 Trace Elements Phase 2
39 Anti-Inflammatory Agents Phase 1, Phase 2
40 Antineoplastic Agents, Hormonal Phase 1, Phase 2
41 glucocorticoids Phase 1, Phase 2
42 Hormone Antagonists Phase 1, Phase 2
43 Hormones Phase 1, Phase 2
44 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1, Phase 2
45 Antiemetics Phase 1, Phase 2
46 Autonomic Agents Phase 1, Phase 2
47 Calcineurin Inhibitors Phase 1, Phase 2
48 Gastrointestinal Agents Phase 1, Phase 2
49 Methylprednisolone acetate Phase 1, Phase 2
50 Methylprednisolone Hemisuccinate Phase 1, Phase 2

Interventional clinical trials:

(show all 12)

id Name Status NCT ID Phase Drugs
1 Stem Cell Transplant for Hemoglobinopathy Active, not recruiting NCT00176852 Phase 2, Phase 3 Busulfan, Fludarabine, ATG, TLI;Busulfan, Cyclophosphamide, ATG, GCSF;Campath, Fludarabine, Cyclophosphamide
2 L-leucine in Diamond Blackfan Anemia Patients Unknown status NCT02386267 Phase 2 L-leucine
3 Mobilization of Stem Cells With G-CSF for Collection From Patients With Diamond-Blackfan Anemia Completed NCT00011505 Phase 2 G-CSF
4 Allogeneic Bone Marrow Transplantation for the Treatment of Genetic Disorders of Erythropoiesis Completed NCT00578435 Phase 2
5 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
6 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
7 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
8 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
9 A Study to Determine Whether Therapy With Daclizumab Will Benefit Patients With Bone Marrow Failure Terminated NCT00001962 Phase 2 Daclizumab
10 BMT Abatacept for Non-Malignant Diseases Recruiting NCT01917708 Phase 1 Abatacept
11 Pilot Lenalidomide in Adult Diamond-Blackfan Anemia Patients w/ RBC Transfusion-Dependent Anemia Terminated NCT01034592 Phase 1 Lenalidomide
12 Alefacept and Allogeneic Hematopoietic Stem Cell Transplantation Terminated NCT01319851 Alefacept

Search NIH Clinical Center for Diamond-Blackfan Anemia 5

Genetic Tests for Diamond-Blackfan Anemia 5

Genetic tests related to Diamond-Blackfan Anemia 5:

id Genetic test Affiliating Genes
1 Diamond-Blackfan Anemia 5 29

Anatomical Context for Diamond-Blackfan Anemia 5

MalaCards organs/tissues related to Diamond-Blackfan Anemia 5:

39
Bone, Bone Marrow, Heart, Liver

Publications for Diamond-Blackfan Anemia 5

Variations for Diamond-Blackfan Anemia 5

UniProtKB/Swiss-Prot genetic disease variations for Diamond-Blackfan Anemia 5:

71
id Symbol AA change Variation ID SNP ID
1 RPL35A p.Val33Ile VAR_055447 rs116840808

ClinVar genetic disease variations for Diamond-Blackfan Anemia 5:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 RPL35A NM_000996.2(RPL35A): c.97G> A (p.Val33Ile) single nucleotide variant Pathogenic rs116840808 GRCh37 Chromosome 3, 197678115: 197678115
2 RPL35A NM_000996.2(RPL35A): c.82_84delCTT (p.Leu28del) deletion Pathogenic rs116840807 GRCh37 Chromosome 3, 197678100: 197678102
3 RPL35A NM_000996.2(RPL35A): c.304C> T (p.Arg102Ter) single nucleotide variant Pathogenic rs116840809 GRCh37 Chromosome 3, 197681013: 197681013

Expression for Diamond-Blackfan Anemia 5

Search GEO for disease gene expression data for Diamond-Blackfan Anemia 5.

Pathways for Diamond-Blackfan Anemia 5

GO Terms for Diamond-Blackfan Anemia 5

Sources for Diamond-Blackfan Anemia 5

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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