MCID: DMN039
MIFTS: 19

Diamond-Blackfan Anemia 17

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

Aliases & Classifications for Diamond-Blackfan Anemia 17

MalaCards integrated aliases for Diamond-Blackfan Anemia 17:

Name: Diamond-Blackfan Anemia 17 54 71 29
Dba17 71

Characteristics:

OMIM:

54
Miscellaneous:
based on report of 1 patient (last curated march 2017)
diagnosed at 2 months of age

Inheritance:
autosomal dominant


Classifications:



External Ids:

OMIM 54 617409
MedGen 40 CN241839
MeSH 42 D029503

Summaries for Diamond-Blackfan Anemia 17

UniProtKB/Swiss-Prot : 71 Diamond-Blackfan anemia 17: 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 17, is also known as dba17. An important gene associated with Diamond-Blackfan Anemia 17 is RPS27 (Ribosomal Protein S27). The drugs Fludarabine and Mechlorethamine have been mentioned in the context of this disorder.

Description from OMIM: 617409

Symptoms & Phenotypes for Diamond-Blackfan Anemia 17

Symptoms via clinical synopsis from OMIM:

54

Hematology:
anemia

Skin Nails & Hair- Skin:
abnormal pigmentation


Clinical features from OMIM:

617409

Drugs & Therapeutics for Diamond-Blackfan Anemia 17

Drugs for Diamond-Blackfan Anemia 17 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 55)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
2
Mechlorethamine Approved Phase 2 51-75-2 4033
3
Melphalan Approved Phase 2 148-82-3 4053 460612
4
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
5
Mycophenolate mofetil Approved, Investigational Phase 2 128794-94-5 5281078
6
Mycophenolic acid Approved Phase 2 24280-93-1 446541
7
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492
8
Vidarabine Approved Phase 2 24356-66-9 32326 21704
9
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
10
leucovorin Approved, Nutraceutical Phase 2 58-05-9 143 6006
11 Alkylating Agents Phase 2
12 Anti-Bacterial Agents Phase 2
13 Antibiotics, Antitubercular Phase 2
14 Anti-Infective Agents Phase 2
15 Antimetabolites Phase 2
16 Antimetabolites, Antineoplastic Phase 2
17 Antirheumatic Agents Phase 2
18 Antiviral Agents Phase 2
19 Calcineurin Inhibitors Phase 2
20 Dermatologic Agents Phase 2
21 Folic Acid Antagonists Phase 2
22 Immunosuppressive Agents Phase 2
23 Nucleic Acid Synthesis Inhibitors Phase 2
24 Vidarabine Phosphate Phase 2
25 Vitamin B Complex Phase 2
26 leucine Nutraceutical Phase 2
27 Folate Nutraceutical Phase 2
28 phenylalanine Nutraceutical Phase 2
29 Vitamin B9 Nutraceutical Phase 2
30
Busulfan Approved, Investigational 55-98-1 2478
31
Cyclophosphamide Approved, Investigational 50-18-0, 6055-19-2 2907
32
Lenograstim Approved 135968-09-1
33
Methylprednisolone Approved, Vet_approved 83-43-2 6741
34
Miconazole Approved, Investigational, Vet_approved 22916-47-8 4189
35
Prednisolone Approved, Vet_approved 50-24-8 5755
36 Antiemetics
37 Antifungal Agents
38 Anti-Inflammatory Agents
39 Antilymphocyte Serum
40 Antineoplastic Agents, Hormonal
41 Autonomic Agents
42 Cyclosporins
43 Gastrointestinal Agents
44 glucocorticoids
45 Hormone Antagonists
46 Hormones
47 Hormones, Hormone Substitutes, and Hormone Antagonists
48 Methylprednisolone acetate
49 Methylprednisolone Hemisuccinate
50 Neuroprotective Agents

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 L-leucine in Diamond Blackfan Anemia Patients Unknown status NCT02386267 Phase 2 L-leucine
2 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
3 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 17

Genetic Tests for Diamond-Blackfan Anemia 17

Genetic tests related to Diamond-Blackfan Anemia 17:

id Genetic test Affiliating Genes
1 Diamond-Blackfan Anemia 17 29

Anatomical Context for Diamond-Blackfan Anemia 17

Publications for Diamond-Blackfan Anemia 17

Variations for Diamond-Blackfan Anemia 17

ClinVar genetic disease variations for Diamond-Blackfan Anemia 17:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 RPS27 NM_001030.5(RPS27): c.90delC (p.Tyr31Thrfs) deletion Pathogenic rs1085307115 GRCh37 Chromosome 1, 153963674: 153963674

Expression for Diamond-Blackfan Anemia 17

Search GEO for disease gene expression data for Diamond-Blackfan Anemia 17.

Pathways for Diamond-Blackfan Anemia 17

GO Terms for Diamond-Blackfan Anemia 17

Sources for Diamond-Blackfan Anemia 17

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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