MCID: DMN030
MIFTS: 21

Diamond-Blackfan Anemia 13

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

Aliases & Classifications for Diamond-Blackfan Anemia 13

MalaCards integrated aliases for Diamond-Blackfan Anemia 13:

Name: Diamond-Blackfan Anemia 13 54 71 29 69
Dba13 71

Characteristics:

OMIM:

54
Miscellaneous:
variable expressivity
incomplete penetrance
no dysmorphic features
most cases are responsive to steroids
onset in childhood
one family and an unrelated patient have been reported (last curated july 2014)

Inheritance:
autosomal dominant


HPO:

32
diamond-blackfan anemia 13:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity incomplete penetrance childhood onset


Classifications:



External Ids:

OMIM 54 615909
MedGen 40 CN197014
MeSH 42 D029503
SNOMED-CT via HPO 65 263681008 300980002

Summaries for Diamond-Blackfan Anemia 13

UniProtKB/Swiss-Prot : 71 Diamond-Blackfan anemia 13: 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 13, is also known as dba13, and has symptoms including normocytic anemia and elevated red cell adenosine deaminase activity. An important gene associated with Diamond-Blackfan Anemia 13 is RPS29 (Ribosomal Protein S29). The drugs Fludarabine and Mechlorethamine have been mentioned in the context of this disorder.

Description from OMIM: 615909

Symptoms & Phenotypes for Diamond-Blackfan Anemia 13

Symptoms via clinical synopsis from OMIM:

54

Laboratory- Abnormalities:
elevated erythrocyte adenosine deaminase

Hematology:
normocytic anemia

Neoplasia:
possibly increased risk of cancer


Clinical features from OMIM:

615909

Human phenotypes related to Diamond-Blackfan Anemia 13:

32
id Description HPO Frequency HPO Source Accession
1 normocytic anemia 32 HP:0001897
2 elevated red cell adenosine deaminase activity 32 HP:0030270

Drugs & Therapeutics for Diamond-Blackfan Anemia 13

Drugs for Diamond-Blackfan Anemia 13 (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 13

Genetic Tests for Diamond-Blackfan Anemia 13

Genetic tests related to Diamond-Blackfan Anemia 13:

id Genetic test Affiliating Genes
1 Diamond-Blackfan Anemia 13 29

Anatomical Context for Diamond-Blackfan Anemia 13

Publications for Diamond-Blackfan Anemia 13

Variations for Diamond-Blackfan Anemia 13

UniProtKB/Swiss-Prot genetic disease variations for Diamond-Blackfan Anemia 13:

71
id Symbol AA change Variation ID SNP ID
1 RPS29 p.Ile31Phe VAR_071328 rs587777568
2 RPS29 p.Ile50Thr VAR_071329 rs587777569

ClinVar genetic disease variations for Diamond-Blackfan Anemia 13:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 RPS29 NM_001032.4(RPS29): c.91A> T (p.Ile31Phe) single nucleotide variant Pathogenic rs587777568 GRCh37 Chromosome 14, 50052739: 50052739
2 RPS29 NM_001032.4(RPS29): c.149T> C (p.Ile50Thr) single nucleotide variant Pathogenic rs587777569 GRCh37 Chromosome 14, 50052681: 50052681

Expression for Diamond-Blackfan Anemia 13

Search GEO for disease gene expression data for Diamond-Blackfan Anemia 13.

Pathways for Diamond-Blackfan Anemia 13

GO Terms for Diamond-Blackfan Anemia 13

Sources for Diamond-Blackfan Anemia 13

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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