MCID: DMN021
MIFTS: 30

Diamond-Blackfan Anemia 6

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

Aliases & Classifications for Diamond-Blackfan Anemia 6

MalaCards integrated aliases for Diamond-Blackfan Anemia 6:

Name: Diamond-Blackfan Anemia 6 54 71 13
Aase Syndrome 71 69
Diamond-Blackfan Anemia 1 69
Aase-Smith Syndrome Ii 71
Aase Smith Syndrome 2 69
Dba6 71

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
age at diagnosis is usually in the first year of life
most patients are steroid responsive


HPO:

32
diamond-blackfan anemia 6:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Diamond-Blackfan Anemia 6

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). (612561)

MalaCards based summary : Diamond-Blackfan Anemia 6, also known as aase syndrome, is related to rpl5-related diamond-blackfan anemia and diamond-blackfan anemia 1, and has symptoms including micrognathia, cleft palate and atrial septal defect. An important gene associated with Diamond-Blackfan Anemia 6 is RPL5 (Ribosomal Protein L5). 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 6: 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.

Related Diseases for Diamond-Blackfan Anemia 6

Symptoms & Phenotypes for Diamond-Blackfan Anemia 6

Symptoms via clinical synopsis from OMIM:

54

Growth- Other:
failure to thrive
growth retardation

Head And Neck- Eyes:
hypertelorism

Respiratory- Airways:
tracheomalacia (some patients)

Hematology:
anemia, normochromic macrocytic
increased fetal hemoglobin

Head And Neck- Mouth:
micrognathia
cleft palate
cleft lip
bifid uvula
mandibular hypoplasia with retrognathia

Cardiovascular- Heart:
atrial septal defect
patent ductus arteriosus
ventricular septal defect
tetralogy of fallot
ventricular hypertrophy
more
Skeletal- Hands:
triphalangeal thumbs
hypoplastic thumbs
small extra thumbs
long proximal thumb phalanges

Laboratory- Abnormalities:
elevated erythrocyte adenosine deaminase (eada)
iron overload (in some patients)


Clinical features from OMIM:

612561

Human phenotypes related to Diamond-Blackfan Anemia 6:

32 (show all 8)
id Description HPO Frequency HPO Source Accession
1 micrognathia 32 frequent (33%) HP:0000347
2 cleft palate 32 frequent (33%) HP:0000175
3 atrial septal defect 32 very rare (1%) HP:0001631
4 increased mean corpuscular volume 32 HP:0005518
5 macrocytic anemia 32 HP:0001972
6 triphalangeal thumb 32 very rare (1%) HP:0001199
7 persistence of hemoglobin f 32 frequent (33%) HP:0011904
8 cleft upper lip 32 frequent (33%) HP:0000204

Drugs & Therapeutics for Diamond-Blackfan Anemia 6

Drugs for Diamond-Blackfan Anemia 6 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 61)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
alemtuzumab Approved, Investigational Phase 2, Phase 3 216503-57-0
2
Busulfan Approved, Investigational Phase 2, Phase 3,Phase 1,Early Phase 1 55-98-1 2478
3
Cyclophosphamide Approved, Investigational Phase 2, Phase 3,Early Phase 1 50-18-0, 6055-19-2 2907
4
Fludarabine Approved Phase 2, Phase 3, Phase 1, Early Phase 1 21679-14-1, 75607-67-9 30751
5
Lenograstim Approved Phase 2, Phase 3 135968-09-1
6
Vidarabine Approved Phase 2, Phase 3,Early Phase 1 24356-66-9 32326 21704
7 Adjuvants, Immunologic Phase 2, Phase 3
8 Alkylating Agents Phase 2, Phase 3,Phase 1,Early Phase 1
9 Anti-Infective Agents Phase 2, Phase 3,Early Phase 1
10 Antilymphocyte Serum Phase 2, Phase 3,Phase 1
11 Antimetabolites Phase 2, Phase 3,Phase 1,Early Phase 1
12 Antimetabolites, Antineoplastic Phase 2, Phase 3,Phase 1,Early Phase 1
13 Antirheumatic Agents Phase 2, Phase 3,Early Phase 1
14 Antiviral Agents Phase 2, Phase 3,Early Phase 1
15 Immunosuppressive Agents Phase 2, Phase 3,Phase 1,Early Phase 1
16
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
17
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
18
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
19
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
20
Prednisone Approved, Vet_approved Phase 1, Phase 2 53-03-2 5865
21
Mycophenolate mofetil Approved, Investigational Phase 2 128794-94-5 5281078
22
Mycophenolic acid Approved Phase 2 24280-93-1 446541
23
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492
24
Mechlorethamine Approved Phase 2 51-75-2 4033
25
Melphalan Approved Phase 2 148-82-3 4053 460612
26
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
27
leucovorin Approved, Nutraceutical Phase 2 58-05-9 143 6006
28
Treosulfan Investigational Phase 2 299-75-2 9296
29 Antiemetics Phase 2
30 Antifungal Agents Phase 2
31 Anti-Inflammatory Agents Phase 2,Phase 1
32 Antineoplastic Agents, Hormonal Phase 2,Phase 1
33 Autonomic Agents Phase 2
34 Calcineurin Inhibitors Phase 2
35 Cyclosporins Phase 2
36 Dermatologic Agents Phase 2
37 Folic Acid Antagonists Phase 2
38 Gastrointestinal Agents Phase 2
39 glucocorticoids Phase 2,Phase 1
40 Hormone Antagonists Phase 2,Phase 1
41 Hormones Phase 2,Phase 1
42 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2,Phase 1
43 Methylprednisolone acetate Phase 2
44 Methylprednisolone Hemisuccinate Phase 2
45 Neuroprotective Agents Phase 2
46 Nucleic Acid Synthesis Inhibitors Phase 2
47 Peripheral Nervous System Agents Phase 2
48 Prednisolone acetate Phase 2
49 Prednisolone hemisuccinate Phase 2
50 Prednisolone phosphate Phase 2

Interventional clinical trials:

(show all 15)

id Name Status NCT ID Phase Drugs
1 Stem Cell Transplant for Hemoglobinopathy Active, not recruiting NCT00176852 Phase 2, Phase 3 Busulfan, Fludarabine, ATG, TLI;Busulfan, Cyclophosphamide, ATG, GCSF;Campath, Fludarabine, Cyclophosphamide
2 L-leucine in Diamond Blackfan Anemia Patients Unknown status NCT02386267 Phase 2 L-leucine
3 Mobilization of Stem Cells With G-CSF for Collection From Patients With Diamond-Blackfan Anemia Completed NCT00011505 Phase 2 G-CSF
4 Allogeneic Bone Marrow Transplantation for the Treatment of Genetic Disorders of Erythropoiesis Completed NCT00578435 Phase 2
5 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
6 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
7 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
8 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
9 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
10 Allo-HCT MUD for Non-malignant Red Blood Cell (RBC) Disorders: Sickle Cell, Thal, and DBA: Reduced Intensity Conditioning, Co-tx MSCs Terminated NCT00957931 Phase 2
11 Human Placental-Derived Stem Cell Transplantation Recruiting NCT01586455 Phase 1 Human Placental Derived Stem Cell
12 Multi-Center Study of Iron Overload: Pilot Study Unknown status NCT01114776
13 Multi-Center Study of Iron Overload: Survey Study (MCSIO) Unknown status NCT01913548
14 Bone Marrow and Kidney Transplant for Patients With Chronic Kidney Disease and Blood Disorders Recruiting NCT01758042
15 Fludarabine Based RIC for Bone Marrow Failure Syndromes Recruiting NCT02928991 Early Phase 1

Search NIH Clinical Center for Diamond-Blackfan Anemia 6

Genetic Tests for Diamond-Blackfan Anemia 6

Anatomical Context for Diamond-Blackfan Anemia 6

MalaCards organs/tissues related to Diamond-Blackfan Anemia 6:

39
Bone, Bone Marrow, Heart, Kidney, Liver, Myeloid

Publications for Diamond-Blackfan Anemia 6

Variations for Diamond-Blackfan Anemia 6

UniProtKB/Swiss-Prot genetic disease variations for Diamond-Blackfan Anemia 6:

71
id Symbol AA change Variation ID SNP ID
1 RPL5 p.Gly140Ser VAR_055450 rs121434406
2 RPL5 p.Ala285Val VAR_055451

ClinVar genetic disease variations for Diamond-Blackfan Anemia 6:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 RPL5 RPL5, IVS2DS, T-G, +2 single nucleotide variant Pathogenic
2 RPL5 RPL5, 5-BP DEL/39-BP INS, NT498 indel Pathogenic
3 RPL5 NM_000969.4(RPL5): c.67C> T (p.Arg23Ter) single nucleotide variant Pathogenic rs121434405 GRCh37 Chromosome 1, 93299009: 93299009
4 RPL5 RPL5, 2-BP DEL, 173GA deletion Pathogenic
5 RPL5 RPL5, 1-BP INS, 235T insertion Pathogenic
6 RPL5 NM_000969.4(RPL5): c.244G> T (p.Glu82Ter) single nucleotide variant Pathogenic rs587777117 GRCh38 Chromosome 1, 92834833: 92834833
7 RPL5 NM_000969.4(RPL5): c.664C> T (p.Gln222Ter) single nucleotide variant Pathogenic rs587777118 GRCh37 Chromosome 1, 93303149: 93303149

Expression for Diamond-Blackfan Anemia 6

Search GEO for disease gene expression data for Diamond-Blackfan Anemia 6.

Pathways for Diamond-Blackfan Anemia 6

GO Terms for Diamond-Blackfan Anemia 6

Sources for Diamond-Blackfan Anemia 6

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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