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MCID: DMN001
MIFTS: 69

Diamond-Blackfan Anemia

Categories: Rare diseases, Metabolic diseases, Fetal diseases, Blood diseases, Genetic diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Diamond-Blackfan Anemia

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MalaCards integrated aliases for Diamond-Blackfan Anemia:

Name: Diamond-Blackfan Anemia 38 12 24 53 25 37 29 55 6 15
Congenital Pure Red Cell Aplasia 53 25 59 55
Aase Syndrome 53 25 59 73
Erythrogenesis Imperfecta 53 25 73
Anemia, Diamond-Blackfan 44 40 73
Congenital Hypoplastic Anemia, Blackfan-Diamond Type 53 59
Congenital Hypoplastic Anemia 53 73
Blackfan-Diamond Anemia 53 59
Aase-Smith Ii Syndrome 53 59
Congenital Prca 53 59
Dba 53 25
Bds 53 25
Congenital Hypoplastic Anemia of Blackfan and Diamond 25
Chronic Constitutional Pure Red Cell Anaemia 12
Anemia Congenital Erythroid Hypoplastic 53
Aregenerative Anemia Chronic Congenital 53
Congenital Erythroid Hypoplastic Anemia 25
Chronic Congenital Agenerative Anemia 25
Red Cell Aplasia, Pure Hereditary 53
Pure Hereditary Red Cell Aplasia 25
Congenital Pure Red Cell Anemia 25
Hypoplastic Congenital Anemia 25
Anemia Hypoplastic Congenital 55
Anemia Diamond Blackfan Type 53
Inherited Erythroblastopenia 25
Blackfan - Diamond Syndrome 12
Diamond-Blackfan Anemia 1 73
Blackfan-Diamond Syndrome 25
Blackfan Diamond Syndrome 53
Blackfan-Diamond Disease 25
Blackfan Diamond Anemia 25
Aase-Smith Syndrome Ii 25
Aase Smith Syndrome 2 73
Bda 25

Characteristics:

Orphanet epidemiological data:

59
blackfan-diamond anemia
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Europe); Age of onset: Childhood,Infancy,Neonatal; Age of death: any age;

GeneReviews:

24
Penetrance Penetrance is incomplete...

Classifications:

MalaCards categories:
Global: Rare diseases Metabolic diseases Fetal diseases Genetic diseases
Anatomical: Blood diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Inborn errors of metabolism
Developmental anomalies during embryogenesis
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:1339
ICD10 33 D61.01
MeSH 44 D029503
NCIt 50 C61236
Orphanet 59 ORPHA124
ICD10 via Orphanet 34 D61.0
MESH via Orphanet 45 D029503
UMLS via Orphanet 74 C1260899 C2931850
KEGG 37 H00237
Sources

Summaries for Diamond-Blackfan Anemia

About this section
NIH Rare Diseases : 53 Diamond-Blackfan anemia is an inheritedblood disorder that affects the ability of the bone marrow to produce red blood cells. Symptoms may include a shortage of red blood cells (anemia), physical abnormalities  such as small head size (microcephaly) characteristic  facial features, cleft palate, cleft lip, short and webbed neck, small shoulder blades, and defects of the hands (mostly of the thumbs), as well as defects of the genitalia, urinary tract, eyes and heart. In some cases there is also short stature. Diamond-Blackfan anemia is caused by  mutations in several genes, some of which have been identified and some of which have not. Identified genes include but are not limited to: RPS19, RPL5,  RPS10, RPL11, RPL35A, RPS7, RPS17, RPS24,  RPS26 and GATA1 genes. Different subtypes exist and are divided based on the specific gene mutated; however, they have similar features. Patients with mutations in the RPL5 gene have more serious symptoms and about 45% have cleft palate and are smaller than average size. Patients with mutations in the RPL11 gene have thumb anomalies more frequently than people with the other types. Mutations in the GATA1 gene are associated with severe anemia. Most cases are isolated, but about 45% of people with Diamond-Blackfan anemia inherit this condition from a parent. Inheritance is typically autosomal dominant , but can rarely be X-linked. Treatment may involve corticosteroids, blood transfusions, a bone marrow transplant or stem cell transplantation. The severity of the disease is very varied. People with Diamond-Blackfan anemia may have an increased risk of having diseases related to a bone marrow defect, such as myelodysplastic syndrome, and certain cancers. Adults with the disease may have hormonal problems in later life, specially adrenal insufficiency, hypogonadism and hypothyroidism. 

MalaCards based summary : Diamond-Blackfan Anemia, also known as congenital pure red cell aplasia, is related to diamond-blackfan anemia 1 and diamond-blackfan anemia 15 with mandibulofacial dysostosis. An important gene associated with Diamond-Blackfan Anemia is RPS19 (Ribosomal Protein S19), and among its related pathways/superpathways are Ribosome and Metabolism. The drugs Iron and Deferasirox have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, bone and heart, and related phenotypes are abnormality of the genital system and abnormality of the urinary system

Genetics Home Reference : 25 Diamond-Blackfan anemia is a disorder of the bone marrow. The major function of bone marrow is to produce new blood cells. In Diamond-Blackfan anemia, the bone marrow malfunctions and fails to make enough red blood cells, which carry oxygen to the body's tissues. The resulting shortage of red blood cells (anemia) usually becomes apparent during the first year of life. Symptoms of anemia include fatigue, weakness, and an abnormally pale appearance (pallor).

Disease Ontology : 12 A congenital hypoplastic anemia that is characterized by anemia (low red blood cell counts) with decreased erythroid progenitors in the bone marrow and has material basis insufficient levels of red blood cells due to bone marrow dysfunction.

Wikipedia : 76 Diamond–Blackfan anemia (DBA) is a congenital erythroid aplasia that usually presents in infancy. DBA... more...

GeneReviews: NBK7047
Sources

Related Diseases for Diamond-Blackfan Anemia

About this section

Diseases in the Diamond-Blackfan Anemia family:

Diamond-Blackfan Anemia 1 Diamond-Blackfan Anemia 2
Diamond-Blackfan Anemia 3 Diamond-Blackfan Anemia 4
Diamond-Blackfan Anemia 5 Diamond-Blackfan Anemia 6
Diamond-Blackfan Anemia 7 Diamond-Blackfan Anemia 8
Diamond-Blackfan Anemia 9 Diamond-Blackfan Anemia 10
Diamond-Blackfan Anemia 11 Diamond-Blackfan Anemia 12
Diamond-Blackfan Anemia 13 Diamond-Blackfan Anemia 16
Diamond-Blackfan Anemia 17 Diamond-Blackfan Anemia-Like

Diseases related to Diamond-Blackfan Anemia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 74)
# Related Disease Score Top Affiliating Genes
1 diamond-blackfan anemia 1 35.3 RPL5 RPS19
2 diamond-blackfan anemia 15 with mandibulofacial dysostosis 35.3 RPS26 RPS28 TSR2
3 congenital hypoplastic anemia 31.4 RPL11 RPL5 RPS17 RPS19
4 aplastic anemia 31.2 GATA1 RPL5 RPS17 RPS19
5 macrocytic anemia 30.2 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
6 diamond-blackfan anemia 3 12.7
7 diamond-blackfan anemia 4 12.7
8 diamond-blackfan anemia 5 12.7
9 diamond-blackfan anemia 7 12.7
10 diamond-blackfan anemia 8 12.7
11 diamond-blackfan anemia 9 12.7
12 diamond-blackfan anemia 10 12.7
13 diamond-blackfan anemia 11 12.7
14 diamond-blackfan anemia 12 12.7
15 diamond-blackfan anemia 6 12.7
16 diamond-blackfan anemia 13 12.7
17 diamond-blackfan anemia 14 with mandibulofacial dysostosis 12.7
18 diamond-blackfan anemia 16 12.7
19 diamond-blackfan anemia 17 12.7
20 diamond-blackfan anemia 2 12.6
21 diamond-blackfan anemia-like 12.3
22 behcet syndrome 11.6
23 binswanger's disease 11.2
24 dementia - subcortical 11.2
25 subcortical arteriosclerotic encephalopathy 11.2
26 intellectual disability - athetosis - microphthalmia 11.2
27 boomerang dysplasia 11.2
28 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech 11.1
29 irregular astigmatism 10.6 RPS27 RPS29
30 hydrops fetalis, nonimmune, and/or atrial septal defect 10.5
31 hematopoietic stem cell transplantation 10.5
32 fetal edema 10.5
33 hydrops fetalis 10.5
34 cardiomyopathy, familial hypertrophic, 20 10.4 RPS26 RPS29
35 cleft palate, isolated 10.4
36 chromosome 5q deletion syndrome 10.4
37 osteogenic sarcoma 10.3
38 sarcoma 10.3
39 heart disease 10.3
40 shwachman-diamond syndrome 1 10.3
41 thalassemia 10.3
42 lymphoma 10.3
43 klippel-feil syndrome 10.3
44 hypertelorism 10.1
45 treacher collins syndrome 1 10.1
46 lymphoma, hodgkin, classic 10.1
47 johanson-blizzard syndrome 10.1
48 cartilage-hair hypoplasia 10.1
49 muscular dystrophy, duchenne type 10.1
50 aging 10.1

Graphical network of the top 20 diseases related to Diamond-Blackfan Anemia:



Diseases related to Diamond-Blackfan Anemia
Sources

Symptoms & Phenotypes for Diamond-Blackfan Anemia

About this section

Human phenotypes related to Diamond-Blackfan Anemia:

59 32 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the genital system 59 32 frequent (33%) Frequent (79-30%) HP:0000078
2 abnormality of the urinary system 59 32 frequent (33%) Frequent (79-30%) HP:0000079
3 cleft palate 59 32 frequent (33%) Frequent (79-30%) HP:0000175
4 thick lower lip vermilion 59 32 occasional (7.5%) Occasional (29-5%) HP:0000179
5 depressed nasal ridge 59 32 occasional (7.5%) Occasional (29-5%) HP:0000457
6 delayed puberty 59 32 frequent (33%) Frequent (79-30%) HP:0000823
7 pallor 59 32 hallmark (90%) Very frequent (99-80%) HP:0000980
8 abnormality of the hand 59 32 frequent (33%) Frequent (79-30%) HP:0001155
9 macrocytic anemia 59 32 frequent (33%) Frequent (79-30%) HP:0001972
10 migraine 59 32 frequent (33%) Frequent (79-30%) HP:0002076
11 acute leukemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002488
12 short nose 59 32 occasional (7.5%) Occasional (29-5%) HP:0003196
13 short stature 59 32 occasional (7.5%) Occasional (29-5%) HP:0004322
14 arrhythmia 59 32 hallmark (90%) Very frequent (99-80%) HP:0011675
15 fatigue 59 32 frequent (33%) Frequent (79-30%) HP:0012378
16 growth delay 59 Very frequent (99-80%)
17 anemia 59 Very frequent (99-80%)
18 neoplasm 59 Occasional (29-5%)

GenomeRNAi Phenotypes related to Diamond-Blackfan Anemia according to GeneCards Suite gene sharing:

26 (show all 33)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 10.7 RPS19 RPL5 RPS17 RPS29 RPS7
2 Decreased viability GR00240-S-1 10.7 RPL15 RPS28
3 Decreased viability GR00381-A-1 10.7 RPL11 RPL15 RPL18 RPL27 RPL35A RPS19
4 Decreased viability GR00402-S-2 10.7 RPL11 RPL15 RPL18 RPL27 RPL35A RPS19
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-1 10.51 RPS19
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-109 10.51 RPS29
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-119 10.51 RPS17 RPS19 RPS29
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 10.51 RPS29
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-142 10.51 RPS17
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-160 10.51 RPS29
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-167 10.51 RPS17 RPS19 RPS29
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-179 10.51 RPS19
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-200 10.51 RPS19
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-206 10.51 RPS17
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-209 10.51 RPS17 RPS19
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-211 10.51 RPS17
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 10.51 RPS17
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-68 10.51 RPS17
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 10.51 RPS17
20 Decreased NF-kappaB reporter expression GR00312-A 10.4 RPL11 RPL15 RPL18 RPL26 RPL27 RPL35
21 FOXO1 nuclear localization GR00247-A-1 10.36 RPS7 RPL11 RPL15 RPS24
22 FOXO1 nuclear localization GR00247-A-2 10.36 RPS7 RPL11 RPL15 RPS24
23 Increased G1 DNA content GR00098-A-1 10.24 GATA1 RPL11 RPL15 RPL18 RPL26 RPL27
24 Decreased viability of wild-type and TP53 knockout cells, decreased TP53 protein expression ratio (wild-type / TP53 knockout cells) GR00196-A-1 10.22 RPL5 RPS10 RPS17 RPS19 RPS26 RPS7
25 Increased viability GR00386-A-1 10.17 RPL11 RPL15 RPL18 RPL26 RPL27 RPL35A
26 G0/1 arrest GR00098-A-2 10.09 RPL11 RPL18 RPL27 RPL35A RPS19 RPS24
27 Decreased Hepatitis C virus replication GR00180-A-1 10.01 RPS19 RPS24 RPS26 RPS28 RPS29 RPS7
28 Decreased cell number GR00303-A 9.95 RPS29 RPL11 RPL35 RPL5 RPS19
29 Negative genetic interaction between KRASG13D/+ and KRAS+/- GR00255-A-5 9.91 RPL11 RPL15 RPL27 RPL35 RPL35A RPS17
30 HIV Rev nuclear localization GR00247-A-3 9.71 RPL11 RPL15 RPS24 RPS7
31 Nuclear 40S maturation defects GR00209-A-2 9.63 RPL11 RPS10 RPS17 RPS26 RPS28 RPS29
32 Nuclear 60S biogenesis defects GR00209-A-3 9.5 RPL35A RPL5 RPL11 RPL18 RPL26 RPL27
33 Nucleoplasmic pre-40S maturation defects GR00209-A-1 9.5 RPL11 RPL18 RPL26 RPL27 RPL35 RPL35A
Sources

Drugs & Therapeutics for Diamond-Blackfan Anemia

About this section

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

(show top 50) (show all 88)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iron Approved Phase 4,Phase 3,Phase 2,Not Applicable 7439-89-6 23925
2
Deferasirox Approved, Investigational Phase 4,Phase 3,Phase 2 201530-41-8 5493381
3 Liver Extracts Phase 4,Phase 2,Phase 1
4 Chelating Agents Phase 4,Phase 3,Phase 2
5 Iron Chelating Agents Phase 4,Phase 3,Phase 2
6 Micronutrients Phase 4,Phase 3,Phase 2
7 Trace Elements Phase 4,Phase 3,Phase 2
8
Busulfan Approved, Investigational Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable,Early Phase 1 55-98-1 2478
9
Fludarabine Approved Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable,Early Phase 1 21679-14-1, 75607-67-9 30751
10
Vidarabine Approved, Investigational Phase 2, Phase 3,Phase 3,Early Phase 1 24356-66-9 32326 21704
11
alemtuzumab Approved, Investigational Phase 2, Phase 3,Phase 1,Early Phase 1,Not Applicable 216503-57-0
12
Cyclophosphamide Approved, Investigational Phase 2, Phase 3,Phase 1,Not Applicable,Early Phase 1 50-18-0, 6055-19-2 2907
13
Lenograstim Approved, Investigational Phase 2, Phase 3,Not Applicable 135968-09-1
14 Orange Approved, Nutraceutical Phase 3
15 Alkylating Agents Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable,Early Phase 1
16 Anti-Infective Agents Phase 2, Phase 3,Phase 3,Phase 1,Early Phase 1,Not Applicable
17 Antilymphocyte Serum Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable
18 Antimetabolites Phase 2, Phase 3,Phase 3,Phase 1,Early Phase 1
19 Antimetabolites, Antineoplastic Phase 2, Phase 3,Phase 3,Phase 1,Early Phase 1
20 Antineoplastic Agents, Alkylating Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable,Early Phase 1
21 Antiviral Agents Phase 2, Phase 3,Phase 3,Early Phase 1
22 Immunosuppressive Agents Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable,Early Phase 1
23 Adjuvants, Immunologic Phase 2, Phase 3
24 Antirheumatic Agents Phase 2, Phase 3,Phase 1,Not Applicable,Early Phase 1
25
rituximab Approved Phase 2,Not Applicable 174722-31-7 10201696
26
Miconazole Approved, Investigational, Vet_approved Phase 2,Not Applicable 22916-47-8 4189
27
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
28
Methylprednisolone Approved, Vet_approved Phase 2,Phase 1,Not Applicable 83-43-2 6741
29
Prednisolone Approved, Vet_approved Phase 2,Phase 1,Not Applicable 50-24-8 5755
30
Deferoxamine Approved, Investigational Phase 2 70-51-9 2973
31
Deferiprone Approved Phase 2 30652-11-0 2972
32
Melphalan Approved Phase 1, Phase 2,Phase 2,Not Applicable,Early Phase 1 148-82-3 4053 460612
33
Thiotepa Approved, Investigational Phase 1, Phase 2,Phase 2,Not Applicable 52-24-4 5453
34
Mycophenolate mofetil Approved, Investigational Phase 2,Phase 1,Not Applicable 128794-94-5 5281078
35
Mycophenolic acid Approved Phase 2,Phase 1,Not Applicable 24280-93-1 446541
36
Hydroxyurea Approved Phase 2,Phase 1 127-07-1 3657
37
Prednisone Approved, Vet_approved Phase 1, Phase 2 53-03-2 5865
38
Everolimus Approved Phase 2,Phase 1 159351-69-6 6442177
39
Sirolimus Approved, Investigational Phase 2,Phase 1 53123-88-9 5284616 6436030 46835353
40
Tacrolimus Approved, Investigational Phase 1, Phase 2,Phase 2 104987-11-3 445643 439492
41
Mechlorethamine Approved, Investigational Phase 2 51-75-2 4033
42
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
43
leucovorin Approved, Nutraceutical Phase 2 58-05-9 143 6006
44
Treosulfan Investigational Phase 2 299-75-2 9296
45 Antibodies Phase 2
46 Antibodies, Monoclonal Phase 2
47 Immunoglobulins Phase 2
48 Antifungal Agents Phase 2,Not Applicable
49 Calcineurin Inhibitors Phase 2,Phase 1,Not Applicable
50 Cyclosporins Phase 2,Phase 1,Not Applicable

Interventional clinical trials:

(show all 50)
# Name Status NCT ID Phase Drugs
1 Magnetic Resonance Imaging (MRI) Assessments of the Heart and Liver Iron Load in Patients With Transfusion Induced Iron Overload Completed NCT00673608 Phase 4 deferasirox
2 Stem Cell Transplant for Bone Marrow Failure Syndromes Completed NCT00176878 Phase 2, Phase 3 Fludarabine monophosphate;Busulfan
3 Expanded Access of Deferasirox to Patients With Congenital Disorders of Red Blood Cells and Chronic Iron Overload Completed NCT00235391 Phase 3 Deferasirox
4 A Study Assessing the Efficacy and Safety of Deferasirox in Patients With Transfusion-dependent Iron Overload Completed NCT00171821 Phase 3 Deferasirox
5 Stem Cell Transplant for Hemoglobinopathy Active, not recruiting NCT00176852 Phase 2, Phase 3 Busulfan, Fludarabine, ATG, TLI;Busulfan, Cyclophosphamide, ATG, GCSF;Campath, Fludarabine, Cyclophosphamide
6 L-leucine in Diamond Blackfan Anemia Patients Unknown status NCT02386267 Phase 2 L-leucine
7 Mobilization of Stem Cells With G-CSF for Collection From Patients With Diamond-Blackfan Anemia Completed NCT00011505 Phase 2 G-CSF
8 Rituximab to Treat Moderate Aplastic Anemia, Pure Red Cell Aplasia, or Diamond Blackfan Anemia Completed NCT00229619 Phase 2 Rituximab
9 Medical Treatment for Diamond Blackfan Anemia Completed NCT00001749 Phase 2 Antithymocyte globulin;Cyclosporine
10 Allogeneic Bone Marrow Transplantation for the Treatment of Genetic Disorders of Erythropoiesis Completed NCT00578435 Phase 2
11 Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells Completed NCT00730314 Phase 1, Phase 2
12 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
13 Study of Deferasirox in Iron Overload From Beta-thalassemia Unable to be Treated With Deferoxamine or Chronic Anemias Completed NCT00061763 Phase 2 Deferasirox
14 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
15 Evaluating Use of Deferasirox as Compared to Deferoxamine in Treating Cardiac Iron Overload Completed NCT00600938 Phase 2 Core Study: Deferasirox;Core Study: Deferoxamine;Extension: deferoxamine to deferasirox;Extension: deferasirox to deferoxamine;Deferasirox;Deferoxamine
16 A Protocol to Allow Treatment With ICL670 for Patients With or at Risk of Life-threatening Complications of Transfusional Iron Overload Who Are Unable to Tolerate Other Iron Chelators Because of Documented Severe Toxicity Completed NCT01044186 Phase 2 ICL670
17 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
18 Improving the Results of Bone Marrow Transplantation for Patients With Severe Congenital Anemias Recruiting NCT00061568 Phase 2 Alemtuzumab (Campath );Sirolimus (Rapamune )
19 Busulfan, Fludarabine, and Thiotepa Conditioning Regimen for Non Malignant Disease Recruiting NCT03513328 Phase 1, Phase 2 Thiotepa--single daily dose;Thiotepa--escalated dose
20 Fludarabine Phosphate, Cyclophosphamide, Total Body Irradiation, and Donor Stem Cell Transplant in Treating Patients With Blood Cancer Recruiting NCT03333486 Phase 2 Cyclophosphamide;Fludarabine Phosphate
21 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
22 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
23 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2 Hydroxyurea;Alemtuzumab;Fludarabine;Melphalan;Thiotepa
24 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
25 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
26 Phase I/II Pilot Study of Mixed Chimerism to Treat Hemoglobinopathies Suspended NCT01419704 Phase 1, Phase 2
27 A Study to Determine Whether Therapy With Daclizumab Will Benefit Patients With Bone Marrow Failure Terminated NCT00001962 Phase 2 Daclizumab
28 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
29 Related Hematopoietic Stem Cell Transplantation (HSCT) for Genetic Diseases of Blood Cells Terminated NCT02512679 Phase 2 Cyclophosphamide Dose Level 1;Cyclophosphamide Dose Level 2;Cyclophosphamide Dose Level 3;Cyclophosphamide Dose Level 4
30 Reduced Intensity Conditioning for Umbilical Cord Blood Transplant in Pediatric Patients With Non-Malignant Disorders Completed NCT00744692 Phase 1 Reduced Intensity Conditioning
31 BMT Abatacept for Non-Malignant Diseases Recruiting NCT01917708 Phase 1 Abatacept
32 Human Placental-Derived Stem Cell Transplantation Active, not recruiting NCT01586455 Phase 1 Human Placental Derived Stem Cell
33 Pilot Lenalidomide in Adult Diamond-Blackfan Anemia Patients w/ RBC Transfusion-Dependent Anemia Terminated NCT01034592 Phase 1 Lenalidomide
34 Safety Study of Gene Modified Donor T Cell Infusion After Stem Cell Transplant for Non-Malignant Diseases Terminated NCT02231710 Phase 1
35 Multi-Center Study of Iron Overload: Pilot Study Unknown status NCT01114776
36 Multi-Center Study of Iron Overload: Survey Study (MCSIO) Unknown status NCT01913548
37 Partially Matched Stem Cell Transplantation for Patients With Refractory Severe Aplastic Anemia or Refractory Cytopenias Completed NCT00244010 Not Applicable
38 Study of Allogeneic Bone Marrow Transplantation Using Matched, Related Donors in Patients With Nonmalignant Hematologic Disorders Completed NCT00005893 Not Applicable anti-thymocyte globulin;busulfan;cyclophosphamide
39 Stem Cell Transplantation (SCT) for Genetic Diseases Completed NCT00004378 Not Applicable
40 Diamond Blackfan Anemia Registry (DBAR) Recruiting NCT00106015
41 Cancer in Inherited Bone Marrow Failure Syndromes Recruiting NCT00027274
42 CD34+ (Non-Malignant) Stem Cell Selection for Patients Receiving Allogeneic Stem Cell Transplantation Recruiting NCT01966367 Early Phase 1
43 Fludarabine Based RIC for Bone Marrow Failure Syndromes Recruiting NCT02928991 Early Phase 1
44 Hematopoietic Stem Cell Transplant for High Risk Hemoglobinopathies Recruiting NCT02179359 Not Applicable Reduced Toxicity Ablative Regimen;Reduced Intensity Preparative Regimen;Myeloablative Preparative Regimen
45 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
46 Investigation of the Genetics of Hematologic Diseases Recruiting NCT02720679
47 Bone Marrow and Kidney Transplant for Patients With Chronic Kidney Disease and Blood Disorders Recruiting NCT01758042 Not Applicable
48 Pathophysiological Explorations of Red Blood Cells Recruiting NCT03541525
49 Donor Umbilical Cord Blood Transplant in Treating Patients With Hematologic Cancer Terminated NCT00290628 Not Applicable anti-thymocyte globulin;busulfan;cyclophosphamide;cyclosporine;filgrastim;melphalan;methylprednisolone;mycophenolate mofetil
50 Alefacept and Allogeneic Hematopoietic Stem Cell Transplantation Terminated NCT01319851 Not Applicable Alefacept

Search NIH Clinical Center for Diamond-Blackfan Anemia

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Diamond-Blackfan Anemia cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Diamond-Blackfan Anemia:
ALD-151, umbilical cord blood cells for hematologic and immunodefeciency diseases
Hematopoietic stem cells for refractory severe aplastic anemia or refractory cytopenias
Embryonic/Adult Cultured Cells Related to Diamond-Blackfan Anemia:
Umbilical cord blood ALDH+ cells (ALD-151) PMIDs: 10430905
Peripheral blood-derived hematopoietic stem cells

Cochrane evidence based reviews: anemia, diamond-blackfan

Sources

Genetic Tests for Diamond-Blackfan Anemia

About this section

Genetic tests related to Diamond-Blackfan Anemia:

# Genetic test Affiliating Genes
1 Diamond-Blackfan Anemia 29
Sources

Anatomical Context for Diamond-Blackfan Anemia

About this section

MalaCards organs/tissues related to Diamond-Blackfan Anemia:

41
Bone Marrow, Bone, Heart, Eye, Liver, Kidney, T Cells
Sources

Publications for Diamond-Blackfan Anemia

About this section

Articles related to Diamond-Blackfan Anemia:

(show top 50) (show all 326)
# Title Authors Year
1
Correction to: Atypical erythroblastosis in a patient with Diamond-Blackfan anemia who developed del(20q) myelodysplasia. ( 29967977 )
2018
2
Identification of novel drug targets for diamond-blackfan anemia based on RPS19 gene mutation using protein-protein interaction network. ( 29745857 )
2018
3
Molecular analysis and genotype-phenotype correlation of Diamond-Blackfan anemia. ( 29044489 )
2018
4
Perspective on Diamond-Blackfan anemia: lessons from a rare congenital bone marrow failure syndrome. ( 29182601 )
2018
5
Innate immune system activation in zebrafish and cellular models of Diamond Blackfan Anemia. ( 29581525 )
2018
6
Recurring mutations in <i>RPL15</i> are linked to hydrops fetalis and treatment independence in Diamond-Blackfan anemia. ( 29599205 )
2018
7
A functional assay for the clinical annotation of genetic variants of uncertain significance in Diamond-Blackfan anemia. ( 29766597 )
2018
8
Concise Review: Advanced Cell Culture Models for Diamond Blackfan Anemia and Other Erythroid Disorders. ( 29124822 )
2018
9
Atypical erythroblastosis in a patient with Diamond-Blackfan anemia who developed del(20q) myelodysplasia. ( 29476317 )
2018
10
Pediatric Diamond-Blackfan anemia in the Netherlands: An overview of clinical characteristics and underlying molecular defects. ( 29114930 )
2018
11
Cross talk between TP53 and c-Myc in the pathophysiology of Diamond-Blackfan anemia: Evidence from RPL11-deficient inA vivo and inA vitro models. ( 29225165 )
2018
12
Increased Prevalence of Congenital Heart Disease in Children With Diamond Blackfan Anemia Suggests Unrecognized Diamond Blackfan Anemia as a Cause of Congenital Heart Disease in the General Population: A Report of the Diamond Blackfan Anemia Registry. ( 29748317 )
2018
13
Pancreatic lipomatosis in Diamond-Blackfan anemia: The importance of genetic testing in bone marrow failure disorders. ( 29885000 )
2018
14
Whole exome sequencing in the differential diagnosis of Diamond-Blackfan anemia: Clinical and molecular study of three patients with novel RPL5 and mosaic RPS19 mutations. ( 28376382 )
2017
15
The severe phenotype of Diamond-Blackfan anemia is modulated by heat shock protein 70. ( 29296843 )
2017
16
Discrimination of Diamond-Blackfan anemia from parvovirus B19 infection by RBC glutathione. ( 28745457 )
2017
17
Confounding in ex vivo models of Diamond-Blackfan anemia. ( 28615220 )
2017
18
[Clinical features and pathogenic gene detection of Diamond-Blackfan anemia]. ( 28202115 )
2017
19
Self-reverting mutations partially correct the blood phenotype in a Diamond Blackfan anemia patient. ( 28971907 )
2017
20
Novel 3q27.2-qter deletion in a patient with Diamond-Blackfan anemia and immunodeficiency: Case report and review of literature. ( 28432740 )
2017
21
Molecular convergence in ex vivo models of Diamond Blackfan anemia. ( 28377399 )
2017
22
Lentiviral Vectors with Cellular Promoters Correct Anemia and Lethal Bone Marrow Failure in a Mouse Model for Diamond-Blackfan Anemia. ( 28434866 )
2017
23
Successful long-term management with low-dose prednisolone in an adult patient with Diamond-Blackfan anemia. ( 28883274 )
2017
24
Drug discovery for Diamond-Blackfan anemia using reprogrammed hematopoietic progenitors. ( 28179501 )
2017
25
Molecular approaches to diagnose Diamond-Blackfan anemia: The EuroDBA experience. ( 29081386 )
2017
26
Variable expressivity and incomplete penetrance in a large family with non-classical Diamond-Blackfan anemia associated with ribosomal protein L11 splicing variant. ( 28742285 )
2017
27
Towards RNA Repair of Diamond-Blackfan Anemia Hematopoietic Stem Cells. ( 27550323 )
2016
28
Reduced-intensity conditioning and stem cell transplantation in infants with Diamond Blackfan anemia. ( 27927765 )
2016
29
A novel pathogenic mutation in RPL11 identified in a patient diagnosed with diamond Blackfan anemia as a young adult. ( 27667165 )
2016
30
A new in-frame deletion in ribosomal protein S19 in a Chinese infant with Diamond-Blackfan anemia. ( 27732904 )
2016
31
Fanconi Syndrome Secondary to Deferasirox in Diamond-Blackfan Anemia: Case Series and Recommendations for Early Diagnosis. ( 27082377 )
2016
32
Transcriptome analysis reveals a ribosome constituents disorder involved in the RPL5 downregulated zebrafish model of Diamond-Blackfan anemia. ( 26961822 )
2016
33
Critical Diamond-Blackfan anemia due to ribosomal protein S19 missense mutation. ( 27601194 )
2016
34
The Stomatological Complications of Diamond-Blackfan Anemia: a Case Report. ( 26864506 )
2016
35
Exome sequencing identified RPS15A as a novel causative gene for Diamond-Blackfan anemia. ( 27909223 )
2016
36
A de novo 1.6Mb microdeletion at 19q13.2 in a boy with Diamond-Blackfan anemia, global developmental delay and multiple congenital anomalies. ( 27486481 )
2016
37
A Novel Mutation of Ribosomal Protein S19 Gene in a Chinese Child with Diamond-Blackfan Anemia. ( 27408399 )
2016
38
Delayed globin synthesis leads to excess heme and the macrocytic anemia of Diamond Blackfan anemia and del(5q) myelodysplastic syndrome. ( 27169803 )
2016
39
Clinical features, mutations and treatment of 104 patients of Diamond-Blackfan anemia in China: a single-center retrospective study. ( 27329125 )
2016
40
Erythrocyte glutathione is a novel biomarker of Diamond-Blackfan anemia. ( 27282564 )
2016
41
ALDH2 polymorphism in patients with Diamond-Blackfan anemia in Japan. ( 26608366 )
2016
42
Erythrocyte adenosine deaminase levels are elevated in Diamond Blackfan anemia but not in the 5q- syndrome. ( 27556864 )
2016
43
Diamond Blackfan Anemia: A Nonclassical Patient With Diagnosis Assisted by Genomic Analysis. ( 27258031 )
2016
44
Diagnostic challenge of Diamond-Blackfan anemia in mothers and children by whole-exome sequencing. ( 27882484 )
2016
45
Elucidation of the EP defect in Diamond-Blackfan anemia by characterization and prospective isolation of human EPs. ( 25755292 )
2015
46
Dysregulation of the Transforming Growth Factor I^ Pathway in Induced Pluripotent Stem Cells Generated from Patients with Diamond Blackfan Anemia. ( 26258650 )
2015
47
Occurrence of colon tumors in a 16-year-old Japanese boy after hematopoietic stem cell transplantation for Diamond Blackfan anemia at age of 4: a case report. ( 26191323 )
2015
48
Clinical and genomic heterogeneity of Diamond Blackfan anemia in the Russian Federation. ( 25946618 )
2015
49
Alteration of heme metabolism in a cellular model of Diamond-Blackfan anemia. ( 26058344 )
2015
50
Diamond-Blackfan Anemia: Death by Heme Toxicity? ( 26235290 )
2015
Sources

Variations for Diamond-Blackfan Anemia

About this section

ClinVar genetic disease variations for Diamond-Blackfan Anemia:

6
(show top 50) (show all 336)
# Gene Variation Type Significance SNP ID Assembly Location
1 RPS24 NM_033022.3(RPS24): c.46C> T (p.Arg16Ter) single nucleotide variant Pathogenic rs104894189 GRCh37 Chromosome 10, 79795152: 79795152
2 RPS24 NM_033022.3(RPS24): c.46C> T (p.Arg16Ter) single nucleotide variant Pathogenic rs104894189 GRCh38 Chromosome 10, 78035394: 78035394
3 RPS19 NM_001022.3(RPS19): c.411+12G> A single nucleotide variant Likely benign rs61762296 GRCh38 Chromosome 19, 41869765: 41869765
4 RPS19 NM_001022.3(RPS19): c.411+12G> A single nucleotide variant Likely benign rs61762296 GRCh37 Chromosome 19, 42373835: 42373835
5 RPL11 NM_000975.4(RPL11): c.258T> G (p.Gly86=) single nucleotide variant Likely benign rs760885169 GRCh37 Chromosome 1, 24020397: 24020397
6 RPL11 NM_000975.4(RPL11): c.258T> G (p.Gly86=) single nucleotide variant Likely benign rs760885169 GRCh38 Chromosome 1, 23693907: 23693907
7 RPL5 NM_000969.3(RPL5): c.165G> A (p.Val55=) single nucleotide variant Benign/Likely benign rs58263806 GRCh38 Chromosome 1, 92833636: 92833636
8 RPL5 NM_000969.3(RPL5): c.165G> A (p.Val55=) single nucleotide variant Benign/Likely benign rs58263806 GRCh37 Chromosome 1, 93299193: 93299193
9 RPL5 NM_000969.4(RPL5): c.258T> C (p.Tyr86=) single nucleotide variant Benign/Likely benign rs113792800 GRCh38 Chromosome 1, 92834847: 92834847
10 RPL5 NM_000969.4(RPL5): c.258T> C (p.Tyr86=) single nucleotide variant Benign/Likely benign rs113792800 GRCh37 Chromosome 1, 93300404: 93300404
11 RPL5 NM_000969.4(RPL5): c.325-4A> G single nucleotide variant Benign rs183825489 GRCh37 Chromosome 1, 93301743: 93301743
12 RPL5 NM_000969.4(RPL5): c.325-4A> G single nucleotide variant Benign rs183825489 GRCh38 Chromosome 1, 92836186: 92836186
13 RPL5 NM_000969.4(RPL5): c.326T> C (p.Leu109Pro) single nucleotide variant Uncertain significance rs878854146 GRCh38 Chromosome 1, 92836191: 92836191
14 RPL5 NM_000969.4(RPL5): c.326T> C (p.Leu109Pro) single nucleotide variant Uncertain significance rs878854146 GRCh37 Chromosome 1, 93301748: 93301748
15 RPL5 NM_000969.3(RPL5): c.629A> G (p.Tyr210Cys) single nucleotide variant Benign/Likely benign rs11540832 GRCh37 Chromosome 1, 93303114: 93303114
16 RPL5 NM_000969.3(RPL5): c.629A> G (p.Tyr210Cys) single nucleotide variant Benign/Likely benign rs11540832 GRCh38 Chromosome 1, 92837557: 92837557
17 RPS10 NM_001014.4(RPS10): c.231G> A (p.Gln77=) single nucleotide variant Benign/Likely benign rs147863199 GRCh37 Chromosome 6, 34392537: 34392537
18 RPS10 NM_001014.4(RPS10): c.231G> A (p.Gln77=) single nucleotide variant Benign/Likely benign rs147863199 GRCh38 Chromosome 6, 34424760: 34424760
19 RPS10 NM_001014.4(RPS10): c.135C> T (p.Val45=) single nucleotide variant Likely benign rs148901210 GRCh37 Chromosome 6, 34392864: 34392864
20 RPS10 NM_001014.4(RPS10): c.135C> T (p.Val45=) single nucleotide variant Likely benign rs148901210 GRCh38 Chromosome 6, 34425087: 34425087
21 RPS24 NM_033022.3(RPS24): c.371A> G (p.Asn124Ser) single nucleotide variant Likely benign rs147128920 GRCh37 Chromosome 10, 79797043: 79797043
22 RPS24 NM_033022.3(RPS24): c.371A> G (p.Asn124Ser) single nucleotide variant Likely benign rs147128920 GRCh38 Chromosome 10, 78037285: 78037285
23 RPL26 NM_000987.4(RPL26): c.259C> T (p.Arg87Trp) single nucleotide variant Uncertain significance rs878854147 GRCh38 Chromosome 17, 8379846: 8379846
24 RPL26 NM_000987.4(RPL26): c.259C> T (p.Arg87Trp) single nucleotide variant Uncertain significance rs878854147 GRCh37 Chromosome 17, 8283164: 8283164
25 RPS19 NM_001022.3(RPS19): c.72-92A> G single nucleotide variant Likely benign rs566047445 GRCh37 Chromosome 19, 42365089: 42365089
26 RPS19 NM_001022.3(RPS19): c.72-92A> G single nucleotide variant Likely benign rs566047445 GRCh38 Chromosome 19, 41861020: 41861020
27 RPS19 NM_001022.3(RPS19): c.356+18G> C single nucleotide variant Benign rs61762294 GRCh37 Chromosome 19, 42373302: 42373302
28 RPS19 NM_001022.3(RPS19): c.356+18G> C single nucleotide variant Benign rs61762294 GRCh38 Chromosome 19, 41869232: 41869232
29 RPS24 NM_033022.3(RPS24): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic/Likely pathogenic rs886039545 GRCh37 Chromosome 10, 79793660: 79793660
30 RPS24 NM_033022.3(RPS24): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic/Likely pathogenic rs886039545 GRCh38 Chromosome 10, 78033902: 78033902
31 RPL5 NM_000969.3(RPL5): c.3+3G> C single nucleotide variant Benign/Likely benign rs200628272 GRCh37 Chromosome 1, 93297677: 93297677
32 RPL5 NM_000969.3(RPL5): c.3+3G> C single nucleotide variant Benign/Likely benign rs200628272 GRCh38 Chromosome 1, 92832120: 92832120
33 RPL11 NM_000975.4(RPL11): c.339C> T (p.Ile113=) single nucleotide variant Benign/Likely benign rs8880 GRCh38 Chromosome 1, 23694734: 23694734
34 RPL11 NM_000975.4(RPL11): c.339C> T (p.Ile113=) single nucleotide variant Benign/Likely benign rs8880 GRCh37 Chromosome 1, 24021224: 24021224
35 RPL11 NM_000975.4(RPL11): c.-14T> C single nucleotide variant Uncertain significance rs886046307 GRCh38 Chromosome 1, 23691810: 23691810
36 RPL11 NM_000975.4(RPL11): c.-14T> C single nucleotide variant Uncertain significance rs886046307 GRCh37 Chromosome 1, 24018300: 24018300
37 RPL11 NM_000975.4(RPL11): c.270G> A (p.Arg90=) single nucleotide variant Uncertain significance rs886046308 GRCh38 Chromosome 1, 23694665: 23694665
38 RPL11 NM_000975.4(RPL11): c.270G> A (p.Arg90=) single nucleotide variant Uncertain significance rs886046308 GRCh37 Chromosome 1, 24021155: 24021155
39 RPL5 NM_000969.4(RPL5): c.-55C> G single nucleotide variant Likely benign rs116168890 GRCh38 Chromosome 1, 92832060: 92832060
40 RPL5 NM_000969.4(RPL5): c.-55C> G single nucleotide variant Likely benign rs116168890 GRCh37 Chromosome 1, 93297617: 93297617
41 RPL5 NM_000969.4(RPL5): c.-42A> C single nucleotide variant Likely benign rs145634330 GRCh38 Chromosome 1, 92832073: 92832073
42 RPL5 NM_000969.4(RPL5): c.-42A> C single nucleotide variant Likely benign rs145634330 GRCh37 Chromosome 1, 93297630: 93297630
43 RPL5 NM_000969.4(RPL5): c.-2G> A single nucleotide variant Uncertain significance rs886046558 GRCh38 Chromosome 1, 92832113: 92832113
44 RPL5 NM_000969.4(RPL5): c.-2G> A single nucleotide variant Uncertain significance rs886046558 GRCh37 Chromosome 1, 93297670: 93297670
45 RPL5 NM_000969.4(RPL5): c.3+13C> T single nucleotide variant Likely benign rs189107197 GRCh38 Chromosome 1, 92832130: 92832130
46 RPL5 NM_000969.4(RPL5): c.3+13C> T single nucleotide variant Likely benign rs189107197 GRCh37 Chromosome 1, 93297687: 93297687
47 RPL5 NM_000969.4(RPL5): c.781G> C (p.Val261Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs773839391 GRCh38 Chromosome 1, 92840626: 92840626
48 RPL5 NM_000969.4(RPL5): c.781G> C (p.Val261Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs773839391 GRCh37 Chromosome 1, 93306183: 93306183
49 RPL11 NM_000975.3(RPL11): c.30C> T (p.Asn10=) single nucleotide variant Benign/Likely benign rs139286202 GRCh38 Chromosome 1, 23692632: 23692632
50 RPL11 NM_000975.3(RPL11): c.30C> T (p.Asn10=) single nucleotide variant Benign/Likely benign rs139286202 GRCh37 Chromosome 1, 24019122: 24019122

Copy number variations for Diamond-Blackfan Anemia from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 29995 1 23890880 23895502 Deleted RPL11 Diamond-Blackfan anemia
2 37614 1 93070181 93080069 Deleted RPL5 Diamond-Blackfan anemia
3 95791 15 80608215 81006263 Deleted RPS17 Diamond-Blackfan anemia
4 130016 19 47055827 47067324 Deleted RPS19 Diamond-Blackfan anemia
5 174085 3 199161448 199167118 Deleted RPL35A Diamond-Blackfan anemia
Sources

Expression for Diamond-Blackfan Anemia

About this section
Search GEO for disease gene expression data for Diamond-Blackfan Anemia.
Sources

Pathways for Diamond-Blackfan Anemia

About this section

Pathways related to Diamond-Blackfan Anemia according to KEGG:

37
# Name Kegg Source Accession
1 Ribosome hsa03010

Pathways related to Diamond-Blackfan Anemia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Metabolism 66
Show member pathways
 13.99 RPL11 RPL15 RPL18 RPL26 RPL27 RPL35
2
Gene Expression 66
Show member pathways
 13.73 RPL11 RPL15 RPL18 RPL26 RPL27 RPL35
3
Metabolism of proteins 66
Show member pathways
 13.68 RPL11 RPL15 RPL18 RPL26 RPL27 RPL35
4
Viral mRNA Translation 66
Show member pathways
 13.59 RPL11 RPL15 RPL18 RPL26 RPL27 RPL35
5
HIV Life Cycle 66
Show member pathways
 13.45 RPL11 RPL15 RPL18 RPL26 RPL27 RPL35
6
Influenza Viral RNA Transcription and Replication 66
Show member pathways
 12.53 RPL11 RPL15 RPL18 RPL26 RPL27 RPL35
7
Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S 66
Show member pathways
 12.45 RPS10 RPS17 RPS19 RPS24 RPS26 RPS27
8
rRNA processing in the nucleus and cytosol 66
Show member pathways
 12.36 RPL11 RPL15 RPL18 RPL26 RPL27 RPL35
Sources

GO Terms for Diamond-Blackfan Anemia

About this section

Cellular components related to Diamond-Blackfan Anemia according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 ribosome GO:0005840 9.89 RPL11 RPL15 RPL18 RPL26 RPL27 RPL35
2 cytosolic large ribosomal subunit GO:0022625 9.86 RPL11 RPL15 RPL18 RPL26 RPL27 RPL35
3 rough endoplasmic reticulum GO:0005791 9.85 RPL18 RPL27 RPS26 RPS28 RPS29
4 small ribosomal subunit GO:0015935 9.78 RPS24 RPS26 RPS28 RPS29
5 polysomal ribosome GO:0042788 9.77 RPL11 RPL18 RPS26 RPS28 RPS29
6 cytoplasmic side of rough endoplasmic reticulum membrane GO:0098556 9.62 RPL27 RPS26 RPS28 RPS29
7 cytosolic small ribosomal subunit GO:0022627 9.28 RPS10 RPS17 RPS19 RPS24 RPS26 RPS27
8 cytosol GO:0005829 10.36 RPL11 RPL15 RPL18 RPL26 RPL27 RPL35
9 nucleoplasm GO:0005654 10.32 GATA1 RPL11 RPL26 RPL5 RPS10 RPS17
10 extracellular exosome GO:0070062 10.31 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
11 nucleolus GO:0005730 10.13 RPL11 RPL18 RPL26 RPL35 RPL5 RPS10
12 intracellular GO:0005622 10.06 RPL11 RPL15 RPL18 RPL26 RPL27 RPL35
13 focal adhesion GO:0005925 10.01 RPL18 RPL27 RPL5 RPS10 RPS17 RPS19

Biological processes related to Diamond-Blackfan Anemia according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 translation GO:0006412 9.89 RPL11 RPL15 RPL18 RPL26 RPL27 RPL35
2 ribosomal small subunit biogenesis GO:0042274 9.85 RPS17 RPS19 RPS24 RPS28 RPS7
3 ribosomal small subunit assembly GO:0000028 9.83 RPS10 RPS17 RPS19 RPS27 RPS28
4 ribosomal large subunit biogenesis GO:0042273 9.78 RPL11 RPL26 RPL35A RPL5
5 protein stabilization GO:0050821 9.75 RPL11 RPL5 RPS7
6 maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) GO:0000462 9.7 RPS19 RPS24 TSR2
7 negative regulation of ubiquitin-dependent protein catabolic process GO:2000059 9.69 RPL11 RPL5 RPS7
8 negative regulation of ubiquitin protein ligase activity GO:1904667 9.67 RPL11 RPL5 RPS7
9 ribosomal large subunit assembly GO:0000027 9.57 RPL11 RPL5
10 maturation of SSU-rRNA GO:0030490 9.56 RPS19 RPS28
11 erythrocyte homeostasis GO:0034101 9.55 RPS17 RPS24
12 negative regulation of protein neddylation GO:2000435 9.54 RPL11 RPL5
13 cytoplasmic translation GO:0002181 9.28 RPL11 RPL15 RPL18 RPL26 RPL35A RPS26
14 rRNA processing GO:0006364 10.36 RPL11 RPL15 RPL18 RPL26 RPL27 RPL35
15 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay GO:0000184 10.3 RPL11 RPL15 RPL18 RPL26 RPL27 RPL35
16 translational initiation GO:0006413 10.25 RPL11 RPL15 RPL18 RPL26 RPL27 RPL35
17 viral transcription GO:0019083 10.19 RPL11 RPL15 RPL18 RPL26 RPL27 RPL35
18 SRP-dependent cotranslational protein targeting to membrane GO:0006614 10.09 RPL11 RPL15 RPL18 RPL26 RPL27 RPL35

Molecular functions related to Diamond-Blackfan Anemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA binding GO:0003723 9.89 RPL11 RPL15 RPL18 RPL26 RPL27 RPL35
2 structural constituent of ribosome GO:0003735 9.55 RPL11 RPL15 RPL18 RPL26 RPL27 RPL35
3 mRNA 5-UTR binding GO:0048027 9.43 RPL26 RPL5 RPS7
4 ubiquitin ligase inhibitor activity GO:1990948 9.33 RPL11 RPL5 RPS7
5 5S rRNA binding GO:0008097 9.32 RPL11 RPL5
Sources

Sources for Diamond-Blackfan Anemia

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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