MCID: DMN029
MIFTS: 28

Diamond-Blackfan Anemia 11

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

Aliases & Classifications for Diamond-Blackfan Anemia 11

MalaCards integrated aliases for Diamond-Blackfan Anemia 11:

Name: Diamond-Blackfan Anemia 11 54 71 29 13 69
Dba11 71

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
good response to steroid treatment
one patient reported (last curated november 2012)


HPO:

32
diamond-blackfan anemia 11:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Diamond-Blackfan Anemia 11

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). (614900)

MalaCards based summary : Diamond-Blackfan Anemia 11, is also known as dba11, and has symptoms including short stature, neutropenia and anemia. An important gene associated with Diamond-Blackfan Anemia 11 is RPL26 (Ribosomal Protein L26). The drugs alemtuzumab and Busulfan have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and heart.

UniProtKB/Swiss-Prot : 71 Diamond-Blackfan anemia 11: 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 11

Symptoms via clinical synopsis from OMIM:

54

Growth- Height:
short stature

Cardiovascular- Heart:
bicuspid aortic valve

Genitourinary- Kidneys:
renal agenesis, unilateral

Head And Neck- Eyes:
incomplete lower eyelid, unilateral

Skeletal- Hands:
absent thumb, bilateral
missing digits, bilateral

Hematology:
neutropenia
anemia
decreased bone marrow cellularity
decreased erythropoiesis

Head And Neck- Mouth:
cleft palate, bilateral

Head And Neck- Ears:
narrowed or absent external auditory meati

Skeletal- Limbs:
hypoplasia or aplasia of radius, unilateral
radioulnar synostosis, unilateral


Clinical features from OMIM:

614900

Human phenotypes related to Diamond-Blackfan Anemia 11:

32 (show all 14)
id Description HPO Frequency HPO Source Accession
1 short stature 32 HP:0004322
2 neutropenia 32 HP:0001875
3 anemia 32 obligate (100%) HP:0001903
4 cleft palate 32 HP:0000175
5 renal agenesis 32 HP:0000104
6 bicuspid aortic valve 32 HP:0001647
7 forearm reduction defects 32 HP:0006368
8 absent thumb 32 HP:0009777
9 abnormality of the eyelid 32 HP:0000492
10 stenosis of the external auditory canal 32 HP:0000402
11 atresia of the external auditory canal 32 HP:0000413
12 hypoplasia of the ulna 32 HP:0003022
13 hypoplasia of the radius 32 HP:0002984
14 abnormality of cells of the erythroid lineage 32 HP:0012130

Drugs & Therapeutics for Diamond-Blackfan Anemia 11

Drugs for Diamond-Blackfan Anemia 11 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 58)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
alemtuzumab Approved, Investigational Phase 2 216503-57-0
2
Busulfan Approved, Investigational Phase 2 55-98-1 2478
3
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
4
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
5
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
6
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
7
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
8
Vidarabine Approved Phase 2 24356-66-9 32326 21704
9
Prednisone Approved, Vet_approved Phase 1, Phase 2 53-03-2 5865
10
Mycophenolate mofetil Approved, Investigational Phase 2 128794-94-5 5281078
11
Mycophenolic acid Approved Phase 2 24280-93-1 446541
12
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492
13
Mechlorethamine Approved Phase 2 51-75-2 4033
14
Melphalan Approved Phase 2 148-82-3 4053 460612
15
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
16
leucovorin Approved, Nutraceutical Phase 2 58-05-9 143 6006
17
Treosulfan Investigational Phase 2 299-75-2 9296
18 Alkylating Agents Phase 2
19 Antiemetics Phase 2
20 Antifungal Agents Phase 2
21 Anti-Infective Agents Phase 2
22 Anti-Inflammatory Agents Phase 2,Phase 1
23 Antimetabolites Phase 2
24 Antimetabolites, Antineoplastic Phase 2
25 Antineoplastic Agents, Hormonal Phase 2,Phase 1
26 Antirheumatic Agents Phase 2
27 Antiviral Agents Phase 2
28 Autonomic Agents Phase 2
29 Calcineurin Inhibitors Phase 2
30 Cyclosporins Phase 2
31 Dermatologic Agents Phase 2
32 Folic Acid Antagonists Phase 2
33 Gastrointestinal Agents Phase 2
34 glucocorticoids Phase 2,Phase 1
35 Hormone Antagonists Phase 2,Phase 1
36 Hormones Phase 2,Phase 1
37 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2,Phase 1
38 Immunosuppressive Agents Phase 2
39 Methylprednisolone acetate Phase 2
40 Methylprednisolone Hemisuccinate Phase 2
41 Neuroprotective Agents Phase 2
42 Nucleic Acid Synthesis Inhibitors Phase 2
43 Peripheral Nervous System Agents Phase 2
44 Prednisolone acetate Phase 2
45 Prednisolone hemisuccinate Phase 2
46 Prednisolone phosphate Phase 2
47 Protective Agents Phase 2
48 Vitamin B Complex Phase 2
49 Anti-Bacterial Agents Phase 2
50 Antibiotics, Antitubercular Phase 2

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 Alemtuzumab, Fludarabine, and Busulfan Followed By Donor Stem Cell Transplant in Treating Young Patients With Hematologic Disorders Completed NCT00301834 Phase 2 busulfan;cyclosporine;fludarabine phosphate;methotrexate;methylprednisolone
3 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
4 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
5 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
6 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 11

Genetic Tests for Diamond-Blackfan Anemia 11

Genetic tests related to Diamond-Blackfan Anemia 11:

id Genetic test Affiliating Genes
1 Diamond-Blackfan Anemia 11 29

Anatomical Context for Diamond-Blackfan Anemia 11

MalaCards organs/tissues related to Diamond-Blackfan Anemia 11:

39
Bone, Bone Marrow, Heart

Publications for Diamond-Blackfan Anemia 11

Variations for Diamond-Blackfan Anemia 11

ClinVar genetic disease variations for Diamond-Blackfan Anemia 11:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 RPL26 NM_000987.4(RPL26): c.120_121delGA (p.Lys41Valfs) deletion Pathogenic rs397518451 GRCh37 Chromosome 17, 8285508: 8285509

Expression for Diamond-Blackfan Anemia 11

Search GEO for disease gene expression data for Diamond-Blackfan Anemia 11.

Pathways for Diamond-Blackfan Anemia 11

GO Terms for Diamond-Blackfan Anemia 11

Sources for Diamond-Blackfan Anemia 11

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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