MCID: DMN022
MIFTS: 27

Diamond-Blackfan Anemia 9

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

Aliases & Classifications for Diamond-Blackfan Anemia 9

MalaCards integrated aliases for Diamond-Blackfan Anemia 9:

Name: Diamond-Blackfan Anemia 9 54 71 29 13 69
Dba9 71

Characteristics:

OMIM:

54
Miscellaneous:
limited clinical information provided
age at diagnosis ranged from birth to 12 years
some patients are steroid responsive

Inheritance:
autosomal dominant


Classifications:



External Ids:

OMIM 54 613308
MedGen 40 C2750081
MeSH 42 D029503
SNOMED-CT via HPO 65 165397008 271737000

Summaries for Diamond-Blackfan Anemia 9

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). (613308)

MalaCards based summary : Diamond-Blackfan Anemia 9, also known as dba9, is related to rps10-related diamond-blackfan anemia, and has symptoms including anemia An important gene associated with Diamond-Blackfan Anemia 9 is RPS10 (Ribosomal Protein S10). 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 9: 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 9

Symptoms via clinical synopsis from OMIM:

54

Laboratory- Abnormalities:
vitamin d deficiency

Head And Neck- Neck:
webbed neck (rare)

Growth- Other:
growth retardation

Hematology:
anemia

Head And Neck- Face:
cathie facies


Clinical features from OMIM:

613308

Human phenotypes related to Diamond-Blackfan Anemia 9:

32
id Description HPO Frequency HPO Source Accession
1 anemia 32 HP:0001903

Drugs & Therapeutics for Diamond-Blackfan Anemia 9

Drugs for Diamond-Blackfan Anemia 9 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 42)
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 Alkylating Agents Phase 2, Phase 3,Phase 1
5 Anti-Infective Agents Phase 2, Phase 3
6 Antilymphocyte Serum Phase 2, Phase 3,Phase 1
7 Antimetabolites Phase 2, Phase 3,Phase 1
8 Antimetabolites, Antineoplastic Phase 2, Phase 3,Phase 1
9 Antiviral Agents Phase 2, Phase 3
10 Immunosuppressive Agents Phase 2, Phase 3,Phase 1
11
alemtuzumab Approved, Investigational Phase 1, Phase 2 216503-57-0
12
Cyclophosphamide Approved, Investigational Phase 1, Phase 2 50-18-0, 6055-19-2 2907
13
Everolimus Approved Phase 1, Phase 2 159351-69-6 6442177
14
Melphalan Approved Phase 1, Phase 2 148-82-3 4053 460612
15
Methylprednisolone Approved, Vet_approved Phase 1, Phase 2 83-43-2 6741
16
Prednisolone Approved, Vet_approved Phase 1, Phase 2 50-24-8 5755
17
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 5284616 6436030 46835353
18
Tacrolimus Approved, Investigational Phase 1, Phase 2 104987-11-3 445643 439492
19 Thiotepa Approved Phase 1, Phase 2 52-24-4 5453
20 Liver Extracts Phase 1, Phase 2
21 Antiemetics Phase 1, Phase 2
22 Anti-Inflammatory Agents Phase 1, Phase 2
23 Antineoplastic Agents, Hormonal Phase 1, Phase 2
24 Antirheumatic Agents Phase 1, Phase 2
25 Autonomic Agents Phase 1, Phase 2
26 Calcineurin Inhibitors Phase 1, Phase 2
27 Gastrointestinal Agents Phase 1, Phase 2
28 glucocorticoids Phase 1, Phase 2
29 Hormone Antagonists Phase 1, Phase 2
30 Hormones Phase 1, Phase 2
31 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1, Phase 2
32 Methylprednisolone acetate Phase 1, Phase 2
33 Methylprednisolone Hemisuccinate Phase 1, Phase 2
34 Neuroprotective Agents Phase 1, Phase 2
35 Peripheral Nervous System Agents Phase 1, Phase 2
36 Pharmaceutical Solutions Phase 1, Phase 2
37 Prednisolone acetate Phase 1, Phase 2
38 Prednisolone hemisuccinate Phase 1, Phase 2
39 Prednisolone phosphate Phase 1, Phase 2
40 Protective Agents Phase 1, Phase 2
41 leucine Nutraceutical Phase 1, Phase 2
42
Iron Approved 7439-89-6 23925

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 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
3 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
4 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
5 Multi-Center Study of Iron Overload: Pilot Study Unknown status NCT01114776
6 Multi-Center Study of Iron Overload: Survey Study (MCSIO) Unknown status NCT01913548

Search NIH Clinical Center for Diamond-Blackfan Anemia 9

Genetic Tests for Diamond-Blackfan Anemia 9

Genetic tests related to Diamond-Blackfan Anemia 9:

id Genetic test Affiliating Genes
1 Diamond-Blackfan Anemia 9 29

Anatomical Context for Diamond-Blackfan Anemia 9

MalaCards organs/tissues related to Diamond-Blackfan Anemia 9:

39
Bone, Bone Marrow, Heart, Liver, Myeloid

Publications for Diamond-Blackfan Anemia 9

Variations for Diamond-Blackfan Anemia 9

ClinVar genetic disease variations for Diamond-Blackfan Anemia 9:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 RPS10 NM_001014.4(RPS10): c.3G> A (p.Met1Ile) single nucleotide variant Pathogenic rs267607021 GRCh37 Chromosome 6, 34392996: 34392996
2 RPS10 RPS10, 1-BP INS, 260C insertion Pathogenic
3 RPS10 NM_001014.4(RPS10): c.337C> T (p.Arg113Ter) single nucleotide variant Pathogenic rs267607022 GRCh37 Chromosome 6, 34389570: 34389570

Expression for Diamond-Blackfan Anemia 9

Search GEO for disease gene expression data for Diamond-Blackfan Anemia 9.

Pathways for Diamond-Blackfan Anemia 9

GO Terms for Diamond-Blackfan Anemia 9

Sources for Diamond-Blackfan Anemia 9

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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