MCID: DMN020
MIFTS: 28

Diamond-Blackfan Anemia 8

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

Aliases & Classifications for Diamond-Blackfan Anemia 8

MalaCards integrated aliases for Diamond-Blackfan Anemia 8:

Name: Diamond-Blackfan Anemia 8 54 71 29 13 69
Dba8 71

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
based on reports of 3 patients (last curated december 2016)
some patients exhibit no dysmorphic features


HPO:

32
diamond-blackfan anemia 8:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 612563
MedGen 40 C2675511
MeSH 42 D029503
SNOMED-CT via HPO 65 263681008 83414005

Summaries for Diamond-Blackfan Anemia 8

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). (612563)

MalaCards based summary : Diamond-Blackfan Anemia 8, also known as dba8, is related to rps7-related diamond-blackfan anemia, and has symptoms including increased mean corpuscular volume and macrocytic anemia. An important gene associated with Diamond-Blackfan Anemia 8 is RPS7 (Ribosomal Protein S7). 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 8: 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 8

Symptoms via clinical synopsis from OMIM:

54

Growth- Height:
short stature (in 2 of 3 patients)

Head And Neck- Face:
cathie facies (patient a)

Head And Neck- Nose:
short nose (patient a)
broad nasal bridge (patient a)

Abdomen- Liver:
hepatic iron overload, mild

Laboratory- Abnormalities:
mild hepatic iron overload (patient a)
elevated adenosine deaminase (ada) activity
elevated levels of reduced glutathione (gsh)

Growth- Other:
growth retardation (in 2 of 3 patients)

Head And Neck- Eyes:
widely spaced eyes (patient a)

Head And Neck- Mouth:
thick upper lip (patient a)

Hematology:
congenital anemia
neutropenia (patient a)


Clinical features from OMIM:

612563

Human phenotypes related to Diamond-Blackfan Anemia 8:

32
id Description HPO Frequency HPO Source Accession
1 increased mean corpuscular volume 32 very rare (1%) HP:0005518
2 macrocytic anemia 32 very rare (1%) HP:0001972

Drugs & Therapeutics for Diamond-Blackfan Anemia 8

Drugs for Diamond-Blackfan Anemia 8 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 73)
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
Fludarabine Approved Phase 2, Phase 3, Phase 1 21679-14-1, 75607-67-9 30751
3
Vidarabine Approved Phase 2, Phase 3 24356-66-9 32326 21704
4
Deferasirox Approved, Investigational Phase 3,Phase 2 201530-41-8 5493381
5
Iron Approved Phase 3,Phase 2 7439-89-6 23925
6 Orange Approved, Nutraceutical Phase 3
7 Alkylating Agents Phase 2, Phase 3,Phase 1
8 Anti-Infective Agents Phase 2, Phase 3
9 Antilymphocyte Serum Phase 2, Phase 3
10 Antimetabolites Phase 2, Phase 3,Phase 1
11 Antimetabolites, Antineoplastic Phase 2, Phase 3,Phase 1
12 Antiviral Agents Phase 2, Phase 3
13 Immunosuppressive Agents Phase 2, Phase 3,Phase 1
14 Chelating Agents Phase 3,Phase 2
15 Iron Chelating Agents Phase 3,Phase 2
16 Micronutrients Phase 3,Phase 2
17 Trace Elements Phase 3,Phase 2
18
Cyclophosphamide Approved, Investigational Phase 2,Phase 1 50-18-0, 6055-19-2 2907
19
Deferoxamine Approved, Investigational Phase 2 70-51-9 2973
20
alemtuzumab Approved, Investigational Phase 1, Phase 2 216503-57-0
21
Everolimus Approved Phase 1, Phase 2 159351-69-6 6442177
22
Melphalan Approved Phase 1, Phase 2 148-82-3 4053 460612
23
Methylprednisolone Approved, Vet_approved Phase 1, Phase 2 83-43-2 6741
24
Prednisolone Approved, Vet_approved Phase 1, Phase 2 50-24-8 5755
25
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 5284616 6436030 46835353
26
Tacrolimus Approved, Investigational Phase 1, Phase 2 104987-11-3 445643 439492
27 Thiotepa Approved Phase 1, Phase 2 52-24-4 5453
28
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
29
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
30
Mycophenolate mofetil Approved, Investigational Phase 2 128794-94-5 5281078
31
Mycophenolic acid Approved Phase 2 24280-93-1 446541
32
Mechlorethamine Approved Phase 2 51-75-2 4033
33
Daclizumab Approved, Investigational Phase 2 152923-56-3
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
Treosulfan Investigational Phase 2 299-75-2 9296
37 Antirheumatic Agents Phase 2,Phase 1
38 Liver Extracts Phase 2,Phase 1
39 Antiemetics Phase 1, Phase 2
40 Anti-Inflammatory Agents Phase 1, Phase 2
41 Antineoplastic Agents, Hormonal Phase 1, Phase 2
42 Autonomic Agents Phase 1, Phase 2
43 Calcineurin Inhibitors Phase 1, Phase 2
44 Gastrointestinal Agents Phase 1, Phase 2
45 glucocorticoids Phase 1, Phase 2
46 Hormone Antagonists Phase 1, Phase 2
47 Hormones Phase 1, Phase 2
48 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1, Phase 2
49 Methylprednisolone acetate Phase 1, Phase 2
50 Methylprednisolone Hemisuccinate Phase 1, Phase 2

Interventional clinical trials:


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 Allogeneic Bone Marrow Transplantation for the Treatment of Genetic Disorders of Erythropoiesis Completed NCT00578435 Phase 2
4 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
5 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
6 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
7 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
8 A Study to Determine Whether Therapy With Daclizumab Will Benefit Patients With Bone Marrow Failure Terminated NCT00001962 Phase 2 Daclizumab
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 8

Genetic Tests for Diamond-Blackfan Anemia 8

Genetic tests related to Diamond-Blackfan Anemia 8:

id Genetic test Affiliating Genes
1 Diamond-Blackfan Anemia 8 29

Anatomical Context for Diamond-Blackfan Anemia 8

MalaCards organs/tissues related to Diamond-Blackfan Anemia 8:

39
Bone, Bone Marrow, Heart, Liver, Eye

Publications for Diamond-Blackfan Anemia 8

Variations for Diamond-Blackfan Anemia 8

ClinVar genetic disease variations for Diamond-Blackfan Anemia 8:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 RPS7 NM_001011.3(RPS7): c.147+1G> A single nucleotide variant Pathogenic rs397507554 GRCh37 Chromosome 2, 3623479: 3623479
2 RPS7 NM_001011.3(RPS7): c.76-1G> T single nucleotide variant Pathogenic rs1057519624 GRCh37 Chromosome 2, 3623406: 3623406

Expression for Diamond-Blackfan Anemia 8

Search GEO for disease gene expression data for Diamond-Blackfan Anemia 8.

Pathways for Diamond-Blackfan Anemia 8

GO Terms for Diamond-Blackfan Anemia 8

Sources for Diamond-Blackfan Anemia 8

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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