DBA1
MCID: DMN023
MIFTS: 64

Diamond-Blackfan Anemia 1 (DBA1)

Categories: Blood diseases, Bone diseases, Cancer diseases, Fetal diseases, Genetic diseases, Immune diseases, Metabolic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Diamond-Blackfan Anemia 1

MalaCards integrated aliases for Diamond-Blackfan Anemia 1:

Name: Diamond-Blackfan Anemia 1 57 11 73 28 12 5 43 14 71
Aase Syndrome 57 75 73 71
Erythrogenesis Imperfecta 57 73 71
Aase-Smith Syndrome Ii 57 73 5
Dba1 57 11 73
Anemia, Congenital Hypoplastic, of Blackfan and Diamond 57 5
Blackfan-Diamond Syndrome 57 73
Dba 57 73
Bds 57 73
Congenital Hypoplastic Anemia of Blackfan and Diamond 73
Familial Hypoplastic Anaemia with Malformations 33
Anemia, Congenital Erythroid Hypoplastic 57
Aregenerative Anemia, Chronic Congenital 57
Congenital Erythroid Hypoplastic Anemia 73
Chronic Congenital Aregenerative Anemia 73
Rps19-Related Diamond-Blackfan Anemia 11
Constitutional Pure Red Cell Aplasia 33
Red Cell Aplasia, Pure, Hereditary 57
Pure Hereditary Red Cell Aplasia 73
Anemia, Diamond-Blackfan, Type 1 38
Anemia, Diamond-Blackfan 71
Aase Smith Syndrome 2 71

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset in infancy
age at diagnosis 2-4 months
40% patients have associated abnormalities
variable expressivity in families
most cases are sporadic


Classifications:



Summaries for Diamond-Blackfan Anemia 1

OMIM®: 57 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). (105650) (Updated 08-Dec-2022)

MalaCards based summary: Diamond-Blackfan Anemia 1, also known as aase syndrome, is related to diamond-blackfan anemia 6 and diamond-blackfan anemia 9. An important gene associated with Diamond-Blackfan Anemia 1 is RPS19 (Ribosomal Protein S19), and among its related pathways/superpathways are Metabolism of proteins and Metabolism. The drugs Deferasirox and Iron Chelating Agents have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, bone and heart, and related phenotypes are intellectual disability and hypertelorism

UniProtKB/Swiss-Prot: 73 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 developing leukemia. 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.

Disease Ontology: 11 A Diamond-Blackfan anemia that has material basis in heterozygous mutation in RPS19 on chromosome 19q13.2.

Wikipedia: 75 Aase syndrome or Aase-Smith syndrome is a rare inherited disorder characterized by anemia with some... more...

Related Diseases for Diamond-Blackfan Anemia 1

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
Diamond-Blackfan Anemia 18 Diamond-Blackfan Anemia 19
Diamond-Blackfan Anemia 20 Diamond-Blackfan Anemia 21

Diseases related to Diamond-Blackfan Anemia 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 72)
# Related Disease Score Top Affiliating Genes
1 diamond-blackfan anemia 6 32.5 RPL5 DIPK1A
2 diamond-blackfan anemia 9 31.9 RPS10-NUDT3 RPS10
3 diamond-blackfan anemia 31.9 TP53 RPS7 RPS26 RPS24 RPS20 RPS19
4 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 31.8 RPS19 GATA1
5 diamond-blackfan anemia 5 31.8 RPL35A IQCG
6 diamond-blackfan anemia 11 31.7 TP53 GATA1
7 deficiency anemia 30.9 TP53 RPS26 RPS19 RPL11 GATA1
8 pure red-cell aplasia 30.8 RPS26 RPS24 RPS19 RPS17 RPL5 RPL35A
9 aplastic anemia 30.2 TP53 RPS26 RPS24 RPS19 RPS17 RPS10
10 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech 11.3
11 aase-smith syndrome i 11.2
12 facio skeletal genital syndrome rippberger type 11.1
13 diamond-blackfan anemia 2 10.9
14 diamond-blackfan anemia 3 10.9
15 diamond-blackfan anemia 4 10.9
16 diamond-blackfan anemia 7 10.9
17 diamond-blackfan anemia 8 10.9
18 diamond-blackfan anemia 10 10.9
19 diamond-blackfan anemia 12 10.9
20 vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome 10.9
21 diamond-blackfan anemia 21 10.9
22 dyskeratosis congenita, x-linked 10.4 RPS19 RPL5 RPL11
23 bowen-conradi syndrome 10.3 RPS19 RPL5 RPL11
24 interatrial communication 10.3 RPL5 DIPK1A
25 cartilage-hair hypoplasia 10.3 RPS24 RPS19 RPL5 RPL11
26 treacher collins syndrome 1 10.3 RPS24 RPS19 RPL5 RPL35A RPL11
27 orofacial cleft 10.3 RPS19 RPS17 RPL5 RPL35A RPL11
28 macrocytic anemia 10.2 RPS26 RPS24 RPS19 RPS17 RPS10 RPL5
29 hypokalemia 10.2
30 aregenerative anemia 10.2
31 good syndrome 10.2 TP53 IL17A
32 fanconi anemia, complementation group a 10.1
33 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.1
34 verrucous carcinoma 10.1 TP53 MIR19A
35 dyskeratosis congenita 10.1 TP53 RPS26 RPS24 RPS20 RPS19 RPS17
36 shwachman-diamond syndrome 1 10.1 TP53 RPS26 RPS24 RPS20 RPS19 RPS17
37 pulmonary hemosiderosis 10.0
38 hemochromatosis, type 1 10.0
39 hydrops fetalis, nonimmune 10.0
40 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 10.0
41 iron overload 10.0
42 siderosis 10.0
43 hemosiderosis 10.0
44 congenital aplastic anemia 10.0
45 headache 10.0
46 multiple sclerosis 10.0
47 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.0
48 allergic encephalomyelitis 10.0
49 spasticity 10.0
50 spinal cord injury 10.0

Graphical network of the top 20 diseases related to Diamond-Blackfan Anemia 1:



Diseases related to Diamond-Blackfan Anemia 1

Symptoms & Phenotypes for Diamond-Blackfan Anemia 1

Human phenotypes related to Diamond-Blackfan Anemia 1:

30 (show all 48)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 30 Very rare (1%) HP:0001249
2 hypertelorism 30 Very rare (1%) HP:0000316
3 microcephaly 30 Very rare (1%) HP:0000252
4 short stature 30 Very rare (1%) HP:0004322
5 epicanthus 30 Very rare (1%) HP:0000286
6 atrial septal defect 30 Very rare (1%) HP:0001631
7 thrombocytopenia 30 Very rare (1%) HP:0001873
8 renal hypoplasia 30 Very rare (1%) HP:0000089
9 ventricular septal defect 30 Very rare (1%) HP:0001629
10 neutropenia 30 Very rare (1%) HP:0001875
11 triphalangeal thumb 30 Very rare (1%) HP:0001199
12 tricuspid stenosis 30 Very rare (1%) HP:0010446
13 thrombocytosis 30 Very rare (1%) HP:0001894
14 primary congenital glaucoma 30 Very rare (1%) HP:0008007
15 failure to thrive 30 HP:0001508
16 high palate 30 HP:0000218
17 short neck 30 HP:0000470
18 strabismus 30 HP:0000486
19 cleft palate 30 HP:0000175
20 congestive heart failure 30 HP:0001635
21 intrauterine growth retardation 30 HP:0001511
22 retrognathia 30 HP:0000278
23 micrognathia 30 HP:0000347
24 webbed neck 30 HP:0000465
25 coarctation of aorta 30 HP:0001680
26 pallor 30 HP:0000980
27 myelodysplasia 30 HP:0002863
28 downslanted palpebral fissures 30 HP:0000494
29 depressed nasal ridge 30 HP:0000457
30 cleft upper lip 30 HP:0000204
31 osteosarcoma 30 HP:0002669
32 short thumb 30 HP:0009778
33 narrow chest 30 HP:0000774
34 premature birth 30 HP:0001622
35 partial duplication of thumb phalanx 30 HP:0009944
36 delayed cranial suture closure 30 HP:0000270
37 hypoplasia of the radius 30 HP:0002984
38 colon cancer 30 HP:0003003
39 absent thumb 30 HP:0009777
40 11 pairs of ribs 30 HP:0000878
41 hypoplastic ilia 30 HP:0000946
42 parietal foramina 30 HP:0002697
43 congenital hypoplastic anemia 30 HP:0004810
44 bifid thoracic vertebrae 30 HP:0008437
45 reticulocytopenia 30 HP:0001896
46 hypoplastic coccygeal vertebrae 30 HP:0008447
47 hypoplastic sacral vertebrae 30 HP:0008475
48 elevated red cell adenosine deaminase level 30 HP:0030270

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Growth Other:
failure to thrive
intrauterine growth retardation, mild

Head And Neck Eyes:
hypertelorism
strabismus
downslanting palpebral fissures

Growth Height:
short stature

Head And Neck Face:
retrognathia
micrognathia

Skin Nails Hair Skin:
pallor

Prenatal Manifestations Delivery:
premature birth

Chest Ribs Sternum Clavicles And Scapulae:
11 pairs of ribs
clavicle agenesis

Skeletal Skull:
parietal foramina

Head And Neck Nose:
flat nose

Chest External Features:
narrow shoulders

Skeletal Hands:
triphalangeal thumbs
bifid thumbs
hypoplastic thumbs
absent thumbs

Laboratory Abnormalities:
elevated erythrocyte adenosine deaminase (eada)

Head And Neck Neck:
short neck
webbed neck

Head And Neck Head:
microcephaly
delayed closure of fontanel

Head And Neck Mouth:
cleft palate
cleft lip
high-arched palate

Cardiovascular Heart:
atrial septal defect
ventricular septal defect

Hematology:
thrombocytopenia
thrombocytosis
reticulocytopenia
anemia, congenital hypoplastic, moderate-severe (normochromic, macrocytic)
neutropenia, mild
more
Neoplasia:
colon cancer
osteogenic sarcoma
myelodysplastic syndrome

Skeletal Pelvis:
hypoplastic ilia

Skeletal Spine:
bifid thoracic vertebrae
hypoplastic coccygeal vertebrae
hypoplastic sacral vertebrae

Cardiovascular Vascular:
coarctation of the aorta
absent radial pulse

Skeletal Limbs:
mild radial hypoplasia

Neurologic Central Nervous System:
mental retardation (in some patients)

Clinical features from OMIM®:

105650 (Updated 08-Dec-2022)

GenomeRNAi Phenotypes related to Diamond-Blackfan Anemia 1 according to GeneCards Suite gene sharing:

25 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 10.27 RPL5 RPS17 RPS19 RPS7
2 Decreased viability GR00249-S 10.27 RPS17 RPS19 RPS7
3 Decreased viability GR00381-A-1 10.27 RPS19
4 Decreased viability GR00386-A-1 10.27 RPL5 RPS17 RPS19 RPS7
5 Decreased viability GR00402-S-2 10.27 RPL5 RPS17 RPS19 RPS7
6 FOXO1 nuclear localization GR00247-A-1 10.06 RPL11 RPS20 RPS24 RPS7
7 FOXO1 nuclear localization GR00247-A-2 10.06 RPL11 RPS20 RPS24 RPS7
8 S arrest GR00098-A-2 9.95 RPL11 RPL35A RPS19 RPS20 RPS24 RPS26
9 Nuclear 60S biogenesis defects GR00209-A-3 9.43 RPL11 RPL35A RPL5
10 HIV Rev nuclear localization GR00247-A-3 9.26 RPL11 RPS20 RPS24 RPS7
11 Negative genetic interaction between KRASG13D/+ and KRAS+/- GR00255-A-5 9.1 RPL11 RPL35A RPS17 RPS19 RPS26 RPS7
12 Nuclear 40S maturation defects GR00209-A-2 9.02 RPL11

Drugs & Therapeutics for Diamond-Blackfan Anemia 1

Drugs for Diamond-Blackfan Anemia 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 91)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Deferasirox Approved, Investigational Phase 4 201530-41-8 214348 5493381
2 Iron Chelating Agents Phase 4
3 Chelating Agents Phase 4
4 Orange Approved Phase 3
5
Lenograstim Approved, Investigational Phase 2, Phase 3 135968-09-1
6
Vidarabine Approved, Investigational Phase 2, Phase 3 24356-66-9 21704
7 Anti-Infective Agents Phase 2, Phase 3
8 Antiviral Agents Phase 2, Phase 3
9 Adjuvants, Immunologic Phase 2, Phase 3
10
Deferoxamine Approved, Investigational Phase 2 70-51-9 2973
11
Melphalan Approved Phase 2 148-82-3 4053 460612
12
Mycophenolic acid Approved, Investigational Phase 2 24280-93-1 446541
13
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
14
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
15
Mechlorethamine Approved, Investigational Phase 2 51-75-2 4033
16
Rituximab Approved Phase 1, Phase 2 174722-31-7
17
Levoleucovorin Approved, Experimental, Investigational Phase 2 68538-85-2, 58-05-9, 73951-54-9 149436 6006
18
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 4112 126941
19
Hydroxyurea Approved Phase 1, Phase 2 127-07-1 3657
20
Tacrolimus Approved, Investigational Phase 2 104987-11-3 6473866 445643
21
Treosulfan Approved, Investigational Phase 2 299-75-2 9296
22
Thiotepa Approved, Investigational Phase 1, Phase 2 52-24-4 5453
23
Busulfan Approved, Investigational Phase 2 55-98-1 2478
24
Fludarabine Approved Phase 2 75607-67-9, 21679-14-1 30751 657237
25
Alemtuzumab Approved, Investigational Phase 2 216503-57-0
26
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
27
Dopamine Approved Phase 1, Phase 2 62-31-7, 51-61-6 681
28
Trifluoperazine Approved, Investigational Phase 1, Phase 2 440-17-5, 117-89-5 5566
29
Prednisone Approved, Vet_approved Phase 1, Phase 2 53-03-2 5865
30
D-Phenylalanine Approved, Experimental, Investigational, Nutraceutical Phase 2 63-91-2, 673-06-3 6140 71567
31
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
32
Daclizumab Investigational, Withdrawn Phase 2 152923-56-3
33 Cyclosporins Phase 2
34 Antifungal Agents Phase 2
35 Anti-Bacterial Agents Phase 2
36 Antitubercular Agents Phase 2
37 Antibiotics, Antitubercular Phase 2
38 Antineoplastic Agents, Immunological Phase 1, Phase 2
39 Antimetabolites Phase 2
40 Folic Acid Antagonists Phase 2
41 Folate Phase 2
42 Vitamin B9 Phase 2
43 Calcineurin Inhibitors Phase 2
44 Vitamin B Complex Phase 2
45 Immunoglobulins, Intravenous Phase 2
46 gamma-Globulins Phase 2
47 Rho(D) Immune Globulin Phase 2
48 Chrysarobin Phase 1, Phase 2
49 Vaccines Phase 1, Phase 2
50 Liver Extracts Phase 2

Interventional clinical trials:

(show all 42)
# Name Status NCT ID Phase Drugs
1 A Study of Magnetic Resonance Imaging Assessment of Cardiac and Liver Iron Load in Patients With Haemoglobinopathies, Myelodysplastic Syndromes (MDS) or Other Anaemias Treated With Exjade® (Deferasirox) (The MILE Study) Completed NCT00673608 Phase 4 deferasirox
2 A Study to Provide Expanded Access of (Exjade®) Deferasirox to Patients With Congenital Disorders of Red Blood Cells and Chronic Iron Overload From Blood Transfusions Who Cannot Adequately be Treated With Other Locally Approved Iron Chelators Completed NCT00235391 Phase 3 Deferasirox
3 Bone Marrow Transplantation for Non-Malignant Congenital Bone Marrow Failure Disorders Completed NCT00176878 Phase 2, Phase 3 Fludarabine monophosphate;Busulfan
4 Allogeneic Hematopoietic Stem Cell Transplant for Patients With High Risk Hemoglobinopathy Using a Preparative Regimen to Achieve Stable Mixed Chimerism Completed NCT00176852 Phase 2, Phase 3 Busulfan, Fludarabine, ATG, TLI;Busulfan, Cyclophosphamide, ATG, GCSF;Campath, Fludarabine, Cyclophosphamide
5 Therapeutic Use of the Amino Acid Leucine in the Treatment of Transfusion-Dependent Diamond Blackfan Anemia Patients Unknown status NCT02386267 Phase 2 L-leucine
6 The Use of Novel Therapies to Reconstitute Blood Cell Production and Promote Organ Performance Using Bone Marrow Failure as a Model: a Pilot, Phase I/II Study of the Amino Acid Leucine in the Treatment of Patients With Transfusion-Dependent Diamond Blackfan Anemia Completed NCT01362595 Phase 1, Phase 2 leucine
7 A Pilot Study of Recombinant Humanized Anti- Cluster of Differentiation Antigen 20 (Anti-CD20) Antibody (Rituximab) in Patients With Moderate Aplastic Anemia, Pure Red Cell Aplasia, or Diamond Blackfan Anemia Completed NCT00229619 Phase 2 Rituximab
8 Phase II Study of Safety & Efficacy of Deferasirox Given for 1 Year in Patients With Chronic Anemias and Transfusional Hemosiderosis Unable to be Treated With Deferoxamine Completed NCT00061763 Phase 2 Deferasirox
9 Bone Marrow Stem Cell Transplantation for Children With Stem Cell Defects, Marrow Failure Syndromes, or Myeloid Leukemia in 1Remission Completed NCT00305708 Phase 1, Phase 2 busulfan;fludarabine phosphate
10 Evaluation of Fludarabine, Busulfan and Alemtuzumab as a Reduced Toxicity Ablative Bone Marrow Stem Cell Transplant Regimen for Children With Stem Cell Defects, Marrow Failure Syndromes, or Myelodysplastic Syndrome (MDS)/Leukemia Completed NCT00301834 Phase 2 busulfan;cyclosporine;fludarabine phosphate;methotrexate;methylprednisolone
11 Investigation of G-CSF-Induced Stem Cell Mobilization Potential in Patients With Diamond-Blackfan Anemia Completed NCT00011505 Phase 2 G-CSF
12 Treatment of Diamond Blackfan Anemia With Antithymocyte Globulin and Cyclosporine A Completed NCT00001749 Phase 2 Antithymocyte globulin;Cyclosporine
13 Pilot Study MUD HCT:Pts High Risk Sickle Cell,Other Non-Malignant RBC Disorders- Reduced Intensity Preparative Regimen, HAPLO-Identical Mesenchymal Stromal Cells Completed NCT00957931 Phase 2
14 A Phase II Trial of Reduced Intensity Allogeneic Stem Cell Transplantation With Fludarabine, Melphalan and Low Dose Total Body Irradiation Completed NCT01529827 Phase 2 fludarabine phosphate;melphalan;tacrolimus;mycophenolate mofetil;methotrexate
15 Allogeneic Stem Cell Transplantation for Malignant and Non-malignant Hematologic Diseases Utilizing Alpha/Beta T Cell and CD19+ B Cell Depletion - NYMC 588 Recruiting NCT04099966 Phase 2 alpha beta depletion
16 T-Cell Depleted, Alternative Donor Transplant in Pediatric and Adult Patients With Severe Sickle Cell Disease (SCD) and Other Transfusion-Dependent Anemias Recruiting NCT03653338 Phase 1, Phase 2 Hydroxyurea;Rituximab;Alemtuzumab;Fludarabine;Thiotepa
17 Hematopoietic Cell Transplantation Using Treosulfan-Based Conditioning for the Treatment of Bone Marrow Failure Diseases Recruiting NCT04965597 Phase 2 Treosulfan;Fludarabine Phosphate;Tacrolimus;Methotrexate
18 Treatment of Refractory Diamond-Blackfan Anemia With Eltrombopag Active, not recruiting NCT04269889 Phase 1, Phase 2 Eltrombopag
19 CD34+ Stem Cell Selection for Patients Receiving a Matched or Partially Matched Family or Unrelated Adult Donor Allogeneic Stem Cell Transplantation for Non-Malignant Disease Active, not recruiting NCT01966367 Phase 1, Phase 2
20 A Phase II Trial of Haploidentical Allogeneic Stem Cell Transplantation Utilizing Mobilized Peripheral Blood Stem Cells Active, not recruiting NCT03333486 Phase 2 Cyclophosphamide;Fludarabine Phosphate
21 Phase II Extension Study of CaspaCIDe T Cells (BPX-501) From an HLA-partially Matched Family Donor After Negative Selection of TCR αβ+T Cells in Pediatric Patients Affected by Hematological Disorders Active, not recruiting NCT02065869 Phase 2 rimiducid
22 Follow-up of Phase 1/2 Study of CaspaCIDe T Cells (BPX-501) From an HLA-partially Matched Family Donor After Negative Selection of TCR αβ+T Cells in Pediatric Patients Affected by Hematological Disorders Active, not recruiting NCT03733249 Phase 1, Phase 2 Rimiducid
23 PEDS024, Phase I/II Feasibility Study of Busulfan Fludarabine and Thiotepa Conditioning Regimen for Allogeneic Hematopoietic Stem-Cell Transplantation (HSCT) for Children With Non-Malignant Disorders Active, not recruiting NCT03513328 Phase 1, Phase 2 Thiotepa--single daily dose;Thiotepa--escalated dose
24 Phase I/II Pilot Study of Mixed Chimerism to Treat Hemoglobinopathies Suspended NCT01419704 Phase 1, Phase 2
25 A Pilot Study of Recombinant Humanized Anti-Interleukin (IL-2) Receptor Antibody (Daclizumab) in Patients With Moderate Aplastic Anemia, Pure Red Cell Aplasia, or Diamond Blackfan Anemia Terminated NCT00001962 Phase 2 Daclizumab
26 Protocol for Related Donor Hematopoietic Stem Cell Transplantation (HSCT) for Treatment of Symptomatic Genetic Lymphohematological Diseases Terminated NCT02512679 Phase 2 Cyclophosphamide Dose Level 1;Cyclophosphamide Dose Level 2;Cyclophosphamide Dose Level 3;Cyclophosphamide Dose Level 4
27 Phase I/II, Open Label Study to Determine Safety of Trifluoperazine (TFP) in Adults With Red Blood Cell Transfusion-Dependent Diamond Blackfan Anemia Terminated NCT03966053 Phase 1, Phase 2 Trifluoperazine
28 Phase I/II, Open-Label Study to Determine Safety and Efficacy of Sotatercept (ACE-011) in Adults With Red Blood Cell Transfusion- Dependent Diamond Blackfan Anemia Terminated NCT01464164 Phase 1, Phase 2 Sotatercept;Sotatercept with prednisone boost
29 Abatacept for Post-Transplant Immune Suppression in Children and Adolescents Receiving Allogeneic Hematopoietic Stem Cell Transplants for Non-Malignant Diseases Completed NCT01917708 Phase 1 Abatacept
30 A Single-Arm Study to Assess the Safety of Transplantation With Human Placental-Derived Stem-Cells Combined With Unrelated and Related Cord Blood in Subjects With Certain Malignant Hematologic Diseases and Non-Malignant Disorders Completed NCT01586455 Phase 1 Human Placental Derived Stem Cell
31 A Pilot Study of Lenalidomide in Adult Diamond-Blackfan Anemia Patients With Red Blood Cell Transfusion-Dependent Anemia Terminated NCT01034592 Phase 1 Lenalidomide
32 Combined Haploidentical Reduced Intensity Bone Marrow and Kidney Transplantation for Patients With Chronic Kidney Disease and Advanced Hematological Disorders Unknown status NCT01758042
33 Modulation of Iron Deposition in Sickle Cell Disease and Other Hemoglobinopathies SURVEY STUDY Completed NCT01913548
34 Hematopoietic Stem Cell Transplantation (HSCT) From Partially Matched Family Donors for Patients With Refractory Severe Aplastic Anemia or Refractory Cytopenias: A Pilot Study Completed NCT00244010
35 Pilot Study Examining Mechanisms of Iron Trafficking and Extra-hepatic Iron Distribution in Sickle Cell Disease, Thalassemia, and Other Iron Loading Anemias Completed NCT01114776
36 Investigation of the Genetics of Hematologic Diseases Recruiting NCT02720679
37 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
38 Etiologic Investigation of Cancer Susceptibility in Inherited Bone Marrow Failure Syndromes: A Natural History Study Recruiting NCT00027274
39 Diamond Blackfan Anemia Registry (DBAR) Recruiting NCT00106015
40 MT2014-10C: Allogeneic Hematopoietic Stem Cell Transplant for Patients With High Risk Hemoglobinopathies and Other Red Cell Transfusion Dependent Disorders Recruiting NCT02179359 Reduced Toxicity Ablative Regimen;Reduced Intensity Preparative Regimen;Myeloablative Preparative Regimen
41 Transplantation of Umbilical Cord Blood From Related and Unrelated Donors Terminated NCT00290628 anti-thymocyte globulin;busulfan;cyclophosphamide;cyclosporine;filgrastim;melphalan;methylprednisolone;mycophenolate mofetil
42 Alefacept and Allogeneic Hematopoietic Stem Cell Transplantation for Children With Non-Malignant Diseases Who Have Been Multiply Transfused: a Pilot Study Terminated NCT01319851 Alefacept

Search NIH Clinical Center for Diamond-Blackfan Anemia 1

Cochrane evidence based reviews: diamond-blackfan anemia 1

Genetic Tests for Diamond-Blackfan Anemia 1

Genetic tests related to Diamond-Blackfan Anemia 1:

# Genetic test Affiliating Genes
1 Diamond-Blackfan Anemia 1 28 RPS19

Anatomical Context for Diamond-Blackfan Anemia 1

Organs/tissues related to Diamond-Blackfan Anemia 1:

MalaCards : Bone Marrow, Bone, Heart, T Cells, Myeloid, Colon, Kidney
ODiseA: Blood And Bone Marrow, Kidney

Publications for Diamond-Blackfan Anemia 1

Articles related to Diamond-Blackfan Anemia 1:

(show top 50) (show all 271)
# Title Authors PMID Year
1
Loss of function mutations in RPL27 and RPS27 identified by whole-exome sequencing in Diamond-Blackfan anaemia. 57 5
25424902 2015
2
Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia. 57 5
23812780 2013
3
Target enrichment and high-throughput sequencing of 80 ribosomal protein genes to identify mutations associated with Diamond-Blackfan anaemia. 57 5
23718193 2013
4
Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemia. 57 5
22431104 2012
5
The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update. 57 5
20960466 2010
6
Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients. 57 5
19061985 2008
7
Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia. 57 5
17186470 2006
8
Mutations in ribosomal protein S19 gene and diamond blackfan anemia: wide variations in phenotypic expression. 57 5
10590074 1999
9
The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia. 57 5
9988267 1999
10
[Diamond-Blackfan anemia confirmed by RPS19 gene mutation analysis: a case study and literature review of Korean patients]. 62 5
20603584 2010
11
Prenatal diagnosis of Blackfan-Diamond syndrome: case report and review of the literature. 62 57
8734811 1996
12
Autosomal dominant transmission of congenital erythroid hypoplastic anemia with radial abnormalities. 62 57
1746615 1991
13
The Aase syndrome. Case report and review of the literature. 62 57
3732321 1986
14
[The Aase syndrome: hereditary autosomal recessive congenital erythropoiesis insufficiency and triphalangeal thumbs]. 62 57
6865981 1983
15
The Aase syndrome in a female infant. 62 57
745221 1978
16
A female patient with "Aase syndrome". 62 57
909014 1977
17
Congenital (erythroid) hypoplastic anemia. A 25-year study. 62 57
13722603 1961
18
Erythrogenesis imperfecta. 62 57
14790824 1950
19
Expansion of germline RPS20 mutation phenotype to include Diamond-Blackfan anemia. 5
32790018 2020
20
The Genetic Landscape of Diamond-Blackfan Anemia. 5
30503522 2018
21
A functional assay for the clinical annotation of genetic variants of uncertain significance in Diamond-Blackfan anemia. 5
29766597 2018
22
Tissue-selective effects of nucleolar stress and rDNA damage in developmental disorders. 57
29364875 2018
23
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands. 5
28991257 2017
24
Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes. 5
28102861 2017
25
Diagnostic challenge of Diamond-Blackfan anemia in mothers and children by whole-exome sequencing. 5
27882484 2017
26
A novel 33-Gene targeted resequencing panel provides accurate, clinical-grade diagnosis and improves patient management for rare inherited anaemias. 5
27432187 2016
27
Clinical features, mutations and treatment of 104 patients of Diamond-Blackfan anemia in China: a single-center retrospective study. 5
27329125 2016
28
Molecular architecture of the ribosome-bound Hepatitis C Virus internal ribosomal entry site RNA. 5
26604301 2015
29
Improving diagnostic precision, care and syndrome definitions using comprehensive next-generation sequencing for the inherited bone marrow failure syndromes. 5
26136524 2015
30
Clinical and genomic heterogeneity of Diamond Blackfan anemia in the Russian Federation. 5
25946618 2015
31
Adult-onset Diamond-Blackfan anemia with a novel mutation in the exon 5 of RPL11: too late and too rare. 5
26185635 2015
32
Acetylome profiling reveals overlap in the regulation of diverse processes by sirtuins, gcn5, and esa1. 5
25381059 2015
33
Clinical phenotype and genetic analysis of RPS19, RPL5, and RPL11 genes in Greek patients with Diamond Blackfan Anemia. 5
25132370 2014
34
Exploiting pre-rRNA processing in Diamond Blackfan anemia gene discovery and diagnosis. 5
25042156 2014
35
Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28. 5
24942156 2014
36
Loss of GATA-1 full length as a cause of Diamond-Blackfan anemia phenotype. 5
24453067 2014
37
Altered translation of GATA1 in Diamond-Blackfan anemia. 5
24952648 2014
38
Ribosomal protein mutations in Korean patients with Diamond-Blackfan anemia. 5
24675553 2014
39
PML4 facilitates erythroid differentiation by enhancing the transcriptional activity of GATA-1. 5
24255919 2014
40
Ribosomal and hematopoietic defects in induced pluripotent stem cells derived from Diamond Blackfan anemia patients. 5
23744582 2013
41
Analysis of disease-causing GATA1 mutations in murine gene complementation systems. 5
23704091 2013
42
First de novo mutation in RPS19 gene as the cause of hydrops fetalis in Diamond-Blackfan anemia. 5
23349008 2013
43
High frequency of ribosomal protein gene deletions in Italian Diamond-Blackfan anemia patients detected by multiplex ligation-dependent probe amplification assay. 5
22689679 2012
44
Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia. 5
22706301 2012
45
Clinical and hematologic manifestations in patients with Diamond Blackfan anemia in Korea. 5
22783360 2012
46
The Czech National Diamond-Blackfan Anemia Registry: clinical data and ribosomal protein mutations update. 5
22381658 2012
47
Extensive gene deletions in Japanese patients with Diamond-Blackfan anemia. 5
22262766 2012
48
Ribosomal protein gene deletions in Diamond-Blackfan anemia. 5
22045982 2011
49
Genetic analysis of inherited bone marrow failure syndromes from one prospective, comprehensive and population-based cohort and identification of novel mutations. 5
21659346 2011
50
A transgenic mouse model demonstrates a dominant negative effect of a point mutation in the RPS19 gene associated with Diamond-Blackfan anemia. 5
20606162 2010

Variations for Diamond-Blackfan Anemia 1

ClinVar genetic disease variations for Diamond-Blackfan Anemia 1:

5 (show top 50) (show all 715)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DIPK1A, RPL5 NM_000969.5(RPL5):c.189+267G>C SNV Association
869112 rs138979590 GRCh37: 1:93299484-93299484
GRCh38: 1:92833927-92833927
2 DIPK1A, RPL5 NM_000969.5(RPL5):c.175_176del (p.Asp59fs) MICROSAT Pathogenic
Pathogenic
662012 rs1571024430 GRCh37: 1:93299200-93299201
GRCh38: 1:92833643-92833644
3 DIPK1A, RPL5 NM_000969.5(RPL5):c.48C>G (p.Tyr16Ter) SNV Pathogenic
664540 rs148673599 GRCh37: 1:93298990-93298990
GRCh38: 1:92833433-92833433
4 DIPK1A, RPL5 NM_000969.5(RPL5):c.9_12del (p.Phe3fs) DEL Pathogenic
842399 rs1686990557 GRCh37: 1:93298948-93298951
GRCh38: 1:92833391-92833394
5 DIPK1A, RPL5 NM_000969.5(RPL5):c.15dup (p.Val6fs) DUP Pathogenic
851814 rs1686990676 GRCh37: 1:93298954-93298955
GRCh38: 1:92833397-92833398
6 RPS19 NM_001022.4(RPS19):c.13dup (p.Thr5fs) DUP Pathogenic
858368 rs149420497 GRCh37: 19:42364856-42364857
GRCh38: 19:41860786-41860787
7 RPS19 NM_001022.4(RPS19):c.184C>T (p.Arg62Trp) SNV Pathogenic
Pathogenic
6314 rs104894711 GRCh37: 19:42373112-42373112
GRCh38: 19:41869042-41869042
8 RPS19 NM_001022.4(RPS19):c.3G>A (p.Met1Ile) SNV Pathogenic
860401 rs138938035 GRCh37: 19:42364847-42364847
GRCh38: 19:41860777-41860777
9 DIPK1A, RPL5 NM_000969.5(RPL5):c.187C>T (p.Gln63Ter) SNV Pathogenic
570764 rs1558284062 GRCh37: 1:93299215-93299215
GRCh38: 1:92833658-92833658
10 DIPK1A, RPL5 NM_000969.5(RPL5):c.70C>T (p.Arg24Ter) SNV Pathogenic
572903 rs1558283853 GRCh37: 1:93299012-93299012
GRCh38: 1:92833455-92833455
11 DIPK1A, RPL5 NM_000969.5(RPL5):c.169_172del (p.Asn57fs) DEL Pathogenic
Pathogenic
Pathogenic
579583 rs1558284033 GRCh37: 1:93299194-93299197
GRCh38: 1:92833637-92833640
12 DIPK1A, RPL5 NM_000969.5(RPL5):c.157_169dup (p.Asn57fs) DUP Pathogenic
649954 rs1571024385 GRCh37: 1:93299183-93299184
GRCh38: 1:92833626-92833627
13 DIPK1A, RPL5 NM_000969.5(RPL5):c.692dup (p.Thr232fs) DUP Pathogenic
692051 rs1571032029 GRCh37: 1:93303176-93303177
GRCh38: 1:92837619-92837620
14 DIPK1A, RPL5 NM_000969.5(RPL5):c.67C>T (p.Arg23Ter) SNV Pathogenic
Pathogenic
6179 rs121434405 GRCh37: 1:93299009-93299009
GRCh38: 1:92833452-92833452
15 DIPK1A, RPL5 NM_000969.5(RPL5):c.634dup (p.Met212fs) DUP Pathogenic
965003 rs1687178005 GRCh37: 1:93303117-93303118
GRCh38: 1:92837560-92837561
16 DIPK1A, RPL5 NM_000969.5(RPL5):c.268del (p.Val90fs) DEL Pathogenic
930202 rs1687054029 GRCh37: 1:93300413-93300413
GRCh38: 1:92834856-92834856
17 GATA1 NM_002049.4(GATA1):c.647G>A (p.Arg216Gln) SNV Pathogenic
10428 rs104894809 GRCh37: X:48650778-48650778
GRCh38: X:48792371-48792371
18 DIPK1A, RPL5 NM_000969.5(RPL5):c.153del (p.Met51fs) DEL Pathogenic
1074389 GRCh37: 1:93299181-93299181
GRCh38: 1:92833624-92833624
19 DIPK1A, RPL5 NM_000969.5(RPL5):c.459_460insTGAA (p.Thr154Ter) INSERT Pathogenic
1030925 rs1687123286 GRCh37: 1:93301881-93301882
GRCh38: 1:92836324-92836325
20 RPS10-NUDT3, RPS10 NM_001014.5(RPS10):c.337C>T (p.Arg113Ter) SNV Pathogenic
6187 rs267607022 GRCh37: 6:34389570-34389570
GRCh38: 6:34421793-34421793
21 GATA1 NM_002049.4(GATA1):c.220G>C (p.Val74Leu) SNV Pathogenic
156266 rs587776452 GRCh37: X:48649736-48649736
GRCh38: X:48791329-48791329
22 DIPK1A, RPL5 NM_000969.5(RPL5):c.608dup (p.Asn203fs) DUP Pathogenic
1383221 GRCh37: 1:93303091-93303092
GRCh38: 1:92837534-92837535
23 DIPK1A, RPL5 NM_000969.5(RPL5):c.500dup (p.Asp168fs) DUP Pathogenic
1451573 GRCh37: 1:93301921-93301922
GRCh38: 1:92836364-92836365
24 GATA1 NM_002049.4(GATA1):c.21del (p.Ser8fs) DEL Pathogenic
465133 rs1557020001 GRCh37: X:48649534-48649534
GRCh38: X:48791127-48791127
25 GATA1 NM_002049.4(GATA1):c.89C>G (p.Ser30Ter) SNV Pathogenic
465134 rs1557020021 GRCh37: X:48649605-48649605
GRCh38: X:48791198-48791198
26 GATA1 NM_002049.4(GATA1):c.94dup (p.Val32fs) DUP Pathogenic
566070 rs1569499310 GRCh37: X:48649606-48649607
GRCh38: X:48791199-48791200
27 RPS19 NM_001022.4(RPS19):c.406G>T (p.Gly136Ter) SNV Pathogenic
372495 rs144337183 GRCh37: 19:42373818-42373818
GRCh38: 19:41869748-41869748
28 GATA1 NM_002049.4(GATA1):c.231_232dup (p.Tyr78fs) MICROSAT Pathogenic
1068556 GRCh37: X:48650258-48650259
GRCh38: X:48791851-48791852
29 GATA1 NM_002049.4(GATA1):c.3G>T (p.Met1Ile) SNV Pathogenic
1068653 GRCh37: X:48649519-48649519
GRCh38: X:48791112-48791112
30 GATA1 NM_002049.4(GATA1):c.90_91del (p.Val32fs) DEL Pathogenic
1068951 GRCh37: X:48649606-48649607
GRCh38: X:48791199-48791200
31 GATA1 NM_002049.4(GATA1):c.105dup (p.Ser36fs) DUP Pathogenic
1068952 GRCh37: X:48649617-48649618
GRCh38: X:48791210-48791211
32 GATA1 NM_002049.4(GATA1):c.157_158insTG (p.Ala53fs) INSERT Pathogenic
1070439 GRCh37: X:48649672-48649673
GRCh38: X:48791265-48791266
33 GATA1 NM_002049.4(GATA1):c.154_173dup (p.Ala59fs) DUP Pathogenic
10429 rs398124628 GRCh37: X:48649667-48649668
GRCh38: X:48791260-48791261
34 GATA1 NM_002049.4(GATA1):c.173_174insCGCTGCGC (p.Leu60fs) INSERT Pathogenic
1428144 GRCh37: X:48649687-48649688
GRCh38: X:48791280-48791281
35 GATA1 NM_002049.4(GATA1):c.192_196del (p.Arg64fs) DEL Pathogenic
1414934 GRCh37: X:48649707-48649711
GRCh38: X:48791300-48791304
36 GATA1 NM_002049.4(GATA1):c.49C>T (p.Gln17Ter) SNV Pathogenic
945515 rs2062673523 GRCh37: X:48649565-48649565
GRCh38: X:48791158-48791158
37 GATA1 NM_002049.4(GATA1):c.2T>C (p.Met1Thr) SNV Pathogenic
156265 rs587776451 GRCh37: X:48649518-48649518
GRCh38: X:48791111-48791111
38 GATA1 NM_002049.4(GATA1):c.220+1del DEL Pathogenic
31942 rs587776453 GRCh37: X:48649736-48649736
GRCh38: X:48791329-48791329
39 RPS19 NM_001022.4(RPS19):c.134_135inv (p.Leu45Gln) INVERS Pathogenic
6318 GRCh37: 19:42365243-42365244
GRCh38: 19:41861174-41861175
40 overlap with 62 genes NC_000017.11:g.(?_7669603)_(8382316_?)del DEL Pathogenic
463365 GRCh37: 17:7572921-8285634
GRCh38: 17:7669603-8382316
41 TP53 NM_000546.6(TP53):c.1077del (p.Ser362fs) DEL Pathogenic
549855 rs1555524370 GRCh37: 17:7573950-7573950
GRCh38: 17:7670632-7670632
42 TP53 NM_000546.6(TP53):c.1083del (p.Ser362fs) DEL Pathogenic
549856 rs1555524354 GRCh37: 17:7573944-7573944
GRCh38: 17:7670626-7670626
43 RPS19 NM_001022.4(RPS19):c.280C>T (p.Arg94Ter) SNV Pathogenic
Pathogenic
6313 rs61762293 GRCh37: 19:42373208-42373208
GRCh38: 19:41869138-41869138
44 RPS19 NM_001022.4(RPS19):c.43G>T (p.Val15Phe) SNV Pathogenic
6319 rs104894717 GRCh37: 19:42364887-42364887
GRCh38: 19:41860817-41860817
45 DIPK1A, RPL5 NM_000969.5(RPL5):c.244G>T (p.Glu82Ter) SNV Pathogenic
Pathogenic
100638 rs587777117 GRCh37: 1:93300390-93300390
GRCh38: 1:92834833-92834833
46 DIPK1A, RPL5 NM_000969.5(RPL5):c.664C>T (p.Gln222Ter) SNV Pathogenic
100639 rs587777118 GRCh37: 1:93303149-93303149
GRCh38: 1:92837592-92837592
47 DIPK1A, RPL5 NM_000969.5(RPL5):c.73+2T>G SNV Pathogenic
6184 rs142156224 GRCh37: 1:93299017-93299017
GRCh38: 1:92833460-92833460
48 DIPK1A, RPL5 NM_000969.5(RPL5):c.235dup (p.Tyr79fs) DUP Pathogenic
6182 rs1571026775 GRCh37: 1:93300380-93300381
GRCh38: 1:92834823-92834824
49 HEATR3 NM_182922.4(HEATR3):c.1337G>A (p.Cys446Tyr) SNV Pathogenic
1321318 GRCh37: 16:50118526-50118526
GRCh38: 16:50084615-50084615
50 HEATR3 NM_182922.4(HEATR3):c.400T>C (p.Cys134Arg) SNV Pathogenic
1300197 GRCh37: 16:50104089-50104089
GRCh38: 16:50070178-50070178

UniProtKB/Swiss-Prot genetic disease variations for Diamond-Blackfan Anemia 1:

73 (show all 23)
# Symbol AA change Variation ID SNP ID
1 RPS19 p.Arg62Trp VAR_006924 rs104894711
2 RPS19 p.Arg56Gln VAR_018437
3 RPS19 p.Val15Phe VAR_018438 rs104894717
4 RPS19 p.Leu18Pro VAR_018439
5 RPS19 p.Pro47Leu VAR_018440
6 RPS19 p.Trp52Arg VAR_018441
7 RPS19 p.Thr55Met VAR_018442 rs147508369
8 RPS19 p.Ala61Glu VAR_018443
9 RPS19 p.Arg62Gln VAR_018444 rs1555841301
10 RPS19 p.Arg101His VAR_018445
11 RPS19 p.Gly120Arg VAR_018446
12 RPS19 p.Leu131Pro VAR_018447
13 RPS19 p.Ala17Pro VAR_046145 rs782329429
14 RPS19 p.Leu18Arg VAR_046146
15 RPS19 p.Ser59Phe VAR_046148
16 RPS19 p.Leu131Arg VAR_046149
17 RPS19 p.Phe21Ser VAR_055438
18 RPS19 p.Trp52Cys VAR_055439
19 RPS19 p.Ala57Pro VAR_055440
20 RPS19 p.Leu64Pro VAR_055441
21 RPS19 p.Thr76Pro VAR_055442
22 RPS19 p.Gly127Glu VAR_055444 rs786200936
23 RPS19 p.Ala135Thr VAR_055445

Expression for Diamond-Blackfan Anemia 1

Search GEO for disease gene expression data for Diamond-Blackfan Anemia 1.

Pathways for Diamond-Blackfan Anemia 1

Pathways related to Diamond-Blackfan Anemia 1 according to GeneCards Suite gene sharing:

(show all 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.8 TP53 RPS7 RPS26 RPS24 RPS20 RPS19
2
Show member pathways
13.7 RPS7 RPS26 RPS24 RPS20 RPS19 RPS17
3
Show member pathways
13.67 TP53 RPS7 RPS26 RPS24 RPS20 RPS19
4
Show member pathways
13.59 RPS7 RPS26 RPS24 RPS20 RPS19 RPS17
5
Show member pathways
13.55 RPL11 RPL35A RPL5 RPS10 RPS17 RPS19
6
Show member pathways
13.35 TP53 RPS7 RPS26 RPS24 RPS20 RPS19
7
Show member pathways
13.32 RPL11 RPL35A RPL5 RPS10 RPS17 RPS19
8
Show member pathways
13.1 RPS7 RPS26 RPS24 RPS20 RPS19 RPS17
9
Show member pathways
12.84 RPL11 RPL35A RPL5 RPS10 RPS17 RPS19
10
Show member pathways
12.66 RPS7 RPS26 RPS24 RPS20 RPS19 RPS17
11
Show member pathways
12.38 RPS7 RPS26 RPS24 RPS20 RPS19 RPS17
12
Show member pathways
12.23 RPS7 RPS26 RPS24 RPS20 RPS19 RPS17
13
Show member pathways
11.79 RPS7 RPS26 RPS24 RPS20 RPS19 RPS17
14
Show member pathways
11.44 RPS7 RPS26 RPS24 RPS20 RPS19 RPS17
15 11.41 TP53 RPL5 RPL11

GO Terms for Diamond-Blackfan Anemia 1

Cellular components related to Diamond-Blackfan Anemia 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ribosome GO:0005840 10.1 RPS7 RPS26 RPS24 RPS20 RPS19 RPS17
2 ribonucleoprotein complex GO:1990904 9.93 RPL11 RPL35A RPL5 RPS10 RPS17 RPS19
3 cytosolic large ribosomal subunit GO:0022625 9.85 RPL5 RPL35A RPL11
4 small ribosomal subunit GO:0015935 9.8 RPS26 RPS24 RPS20
5 cytosolic small ribosomal subunit GO:0022627 9.8 RPS7 RPS26 RPS24 RPS20 RPS19 RPS17
6 cytosolic ribosome GO:0022626 9.58 RPS7 RPS24 RPS20 RPS19 RPS17 RPS10

Biological processes related to Diamond-Blackfan Anemia 1 according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 rRNA processing GO:0006364 10 RPL11 RPS7 RPS24 RPS19 RPS17 RPL5
2 ribosomal large subunit biogenesis GO:0042273 9.97 RPL5 RPL35A RPL11 HEATR3
3 translation GO:0006412 9.96 RPL11 RPL35A RPL5 RPS10 RPS17 RPS19
4 ribosomal small subunit biogenesis GO:0042274 9.92 RPS17 RPS19 RPS24 RPS7
5 negative regulation of ubiquitin-dependent protein catabolic process GO:2000059 9.88 RPS7 RPL5 RPL11
6 negative regulation of ubiquitin protein ligase activity GO:1904667 9.86 RPS7 RPS20 RPL5 RPL11
7 erythrocyte homeostasis GO:0034101 9.8 RPS24 RPS17
8 positive regulation of intrinsic apoptotic signaling pathway by p53 class mediator GO:1902255 9.76 RPS7 RPL11
9 negative regulation of protein neddylation GO:2000435 9.73 RPL5 RPL11
10 positive regulation of signal transduction by p53 class mediator GO:1901798 9.65 RPS20 RPL11
11 cytoplasmic translation GO:0002181 9.62 RPS7 RPS26 RPS24 RPS20 RPS19 RPS17

Molecular functions related to Diamond-Blackfan Anemia 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA binding GO:0003723 10.16 RPL11 RPL35A RPL5 RPS10 RPS17 RPS19
2 mRNA 3'-UTR binding GO:0003730 9.8 TP53 RPS7 RPL5 MIR19A
3 MDM2/MDM4 family protein binding GO:0097371 9.67 TP53 RPS20
4 5S rRNA binding GO:0008097 9.62 RPL5 RPL11
5 structural constituent of ribosome GO:0003735 9.62 RPS7 RPS26 RPS24 RPS20 RPS19 RPS17
6 ubiquitin ligase inhibitor activity GO:1990948 9.56 RPS7 RPS20 RPL5 RPL11

Sources for Diamond-Blackfan Anemia 1

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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