DBA1
MCID: DMN023
MIFTS: 68

Diamond-Blackfan Anemia 1 (DBA1)

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

Aliases & Classifications for Diamond-Blackfan Anemia 1

MalaCards integrated aliases for Diamond-Blackfan Anemia 1:

Name: Diamond-Blackfan Anemia 1 57 12 72 29 13 6 44 15 70
Aase Syndrome 57 73 72 70
Erythrogenesis Imperfecta 57 72 70
Aase-Smith Syndrome Ii 57 72 6
Dba1 57 12 72
Anemia, Congenital Hypoplastic, of Blackfan and Diamond 57 6
Blackfan-Diamond Syndrome 57 72
Dba 57 72
Bds 57 72
Congenital Hypoplastic Anemia of Blackfan and Diamond 72
Anemia, Congenital Erythroid Hypoplastic 57
Aregenerative Anemia, Chronic Congenital 57
Congenital Erythroid Hypoplastic Anemia 72
Chronic Congenital Aregenerative Anemia 72
Rps19-Related Diamond-Blackfan Anemia 12
Red Cell Aplasia, Pure, Hereditary 57
Pure Hereditary Red Cell Aplasia 72
Anemia, Diamond-Blackfan, Type 1 39
Blackfan-Diamond Syndrome; Bds 57
Anemia, Diamond-Blackfan 70
Aase Smith Syndrome 2 70

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
age at diagnosis 2-4 months
40% patients have associated abnormalities
variable expressivity in families
most cases are sporadic


HPO:

31
diamond-blackfan anemia 1:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


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 20-May-2021)

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

Disease Ontology : 12 A Diamond-Blackfan anemia that has material basis in heterozygous mutation in RPS19 on chromosome 19q13.2.

UniProtKB/Swiss-Prot : 72 Diamond-Blackfan anemia 1: 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.

Wikipedia : 73 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

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

(show top 50) (show all 591)
# Related Disease Score Top Affiliating Genes
1 diamond-blackfan anemia 9 32.0 RPS10-NUDT3 RPS10
2 diamond-blackfan anemia 31.9 TP53 TNF RPS24 RPS20 RPS19 RPS10-NUDT3
3 respiratory failure 30.6 TNF IL6 IL1B IL10 CD4
4 deficiency anemia 30.6 TNF RPS19 RPL11 IL6 GATA1 CD4
5 chlamydia 30.6 TNF IL6 IL1B IL17A IL10
6 multiple sclerosis 30.5 TNF IL6 IL1B IL17A IL10 CD4
7 fibromyalgia 30.5 TNF IL6 IL1B IL10
8 irritable bowel syndrome 30.5 TNF IL6 IL1B IL10
9 chronic fatigue syndrome 30.4 TNF IL6 IL1B IL17A IL10
10 end stage renal disease 30.4 TNF IL6 IL1B IL10
11 aplastic anemia 30.3 TP53 TNF RPS19 RPL5 IL6 IL1B
12 diamond-blackfan anemia 6 11.4
13 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech 11.2
14 aase-smith syndrome i 11.2
15 facio skeletal genital syndrome rippberger type 11.0
16 diamond-blackfan anemia 2 10.9
17 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 10.9
18 diamond-blackfan anemia 3 10.9
19 diamond-blackfan anemia 4 10.9
20 diamond-blackfan anemia 5 10.9
21 diamond-blackfan anemia 7 10.9
22 diamond-blackfan anemia 8 10.9
23 diamond-blackfan anemia 10 10.9
24 diamond-blackfan anemia 11 10.9
25 diamond-blackfan anemia 12 10.9
26 vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome 10.9
27 neurosyphilis 10.6 IL17A IL10
28 external pathological resorption 10.6 TNF IL6
29 punctate inner choroidopathy 10.6 TNF IL10
30 anal carcinoma in situ 10.6 TP53 CD4
31 scorpion envenomation 10.5 TNF IL6
32 tropical endomyocardial fibrosis 10.5 TNF IL10
33 conjunctivitis 10.5 TNF IL6 IL10
34 meningovascular neurosyphilis 10.5 TNF IL17A CD4
35 physiological polycythemia 10.5 TNF IL6 IL1B
36 cartilage-hair hypoplasia 10.5 RPS24 RPS19 RPL5 RPL11
37 enterocolitis 10.5 TNF IL6 IL10
38 mononeuritis of upper limb and mononeuritis multiplex 10.5 TNF DCAF8 CD4
39 metal allergy 10.5 IL17A IL10 CD4
40 periodontitis, chronic 10.5 TNFSF11 IL6 IL1B
41 arachnoiditis 10.5 TNF IL1B CD4
42 cerebritis 10.5 TNF IL1B CD4
43 farmer's lung 10.5 TNF IL17A CD4
44 pneumonic plague 10.5 TNF IL17A CD4
45 ulcer of lower limbs 10.5 TNF IL6 IL1B
46 trichinosis 10.5 IL17A IL10 CD4
47 blastomycosis 10.5 IL6 IL17A CD4
48 subcutaneous mycosis 10.5 IL17A IL10 CD4
49 tertiary syphilis 10.5 TNF IL10 CD4
50 timothy grass allergy 10.5 IL17A IL10 CD4

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:

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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

Neoplasia:
colon cancer
osteogenic sarcoma
myelodysplastic syndrome

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
Prenatal Manifestations Delivery:
premature birth

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 20-May-2021)

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Cytoplasmic 40S maturation defects GR00209-A-2 8.96 RPS10 RPS20
2 HIV Rev nuclear localization GR00247-A-3 8.8 RPL11 RPS20 RPS24

MGI Mouse Phenotypes related to Diamond-Blackfan Anemia 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.17 CD28 CD4 DCAF8 DIPK1A GATA1 IL10
2 integument MP:0010771 10.03 CD28 CD4 GATA1 IL10 IL17A IL1B
3 craniofacial MP:0005382 10.01 IL10 IL17A IL1B RPS19 RPS20 TNF
4 mortality/aging MP:0010768 10 CD4 GATA1 IL10 IL17A IL1B IL6
5 digestive/alimentary MP:0005381 9.97 CD28 CD4 IL10 IL17A IL6 RPL11
6 neoplasm MP:0002006 9.56 CD28 IL10 IL1B IL6 RPL11 TNF
7 respiratory system MP:0005388 9.23 DCAF8 GATA1 IL10 IL17A IL6 TNF

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 86)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Deferasirox Approved, Investigational Phase 4 201530-41-8 5493381 214348
2 Chelating Agents Phase 4
3 Iron Chelating Agents Phase 4
4
Iron Approved Phase 3 7439-89-6 23925 29936
5
alemtuzumab Approved, Investigational Phase 2, Phase 3 216503-57-0
6
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
7
Lenograstim Approved, Investigational Phase 2, Phase 3 135968-09-1
8 Orange Approved Phase 3
9
Sargramostim Approved, Investigational Phase 2, Phase 3 123774-72-1, 83869-56-1
10
Vidarabine Approved, Investigational Phase 2, Phase 3 24356-66-9 32326 21704
11
Molgramostim Investigational Phase 2, Phase 3 99283-10-0
12 Antineoplastic Agents, Immunological Phase 2, Phase 3
13 Anti-Infective Agents Phase 2, Phase 3
14 Antilymphocyte Serum Phase 2, Phase 3
15 Adjuvants, Immunologic Phase 2, Phase 3
16 Antiviral Agents Phase 2, Phase 3
17
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
18
Mechlorethamine Approved, Investigational Phase 2 51-75-2 4033
19
Levoleucovorin Approved, Investigational Phase 2 68538-85-2 149436
20
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492 6473866
21
Deferoxamine Approved, Investigational Phase 2 70-51-9 2973
22
Hydroxyurea Approved Phase 1, Phase 2 127-07-1 3657
23
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
24
rituximab Approved Phase 1, Phase 2 174722-31-7 10201696
25
Thiotepa Approved, Investigational Phase 1, Phase 2 52-24-4 5453
26
Prednisone Approved, Vet_approved Phase 1, Phase 2 53-03-2 5865
27
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
28
Dopamine Approved Phase 1, Phase 2 51-61-6, 62-31-7 681
29
Trifluoperazine Approved, Investigational Phase 1, Phase 2 117-89-5 5566
30
Melphalan Approved Phase 1, Phase 2 148-82-3 4053 460612
31
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
32
Phenylalanine Approved, Investigational, Nutraceutical Phase 2 63-91-2 6140
33
Daclizumab Investigational, Withdrawn Phase 2 152923-56-3
34 Folic Acid Antagonists Phase 2
35 Vitamin B9 Phase 2
36 Folate Phase 2
37 Vitamin B Complex Phase 2
38 Antirheumatic Agents Phase 2
39 Immunosuppressive Agents Phase 2
40 Immunologic Factors Phase 2
41 Alkylating Agents Phase 2
42 Antimetabolites Phase 2
43 Thymoglobulin Phase 1, Phase 2
44 Antineoplastic Agents, Hormonal Phase 1, Phase 2
45 Gastrointestinal Agents Phase 1, Phase 2
46 Antiemetics Phase 1, Phase 2
47 Psychotropic Drugs Phase 1, Phase 2
48 Dopamine Agents Phase 1, Phase 2
49 Dopamine Antagonists Phase 1, Phase 2
50 Neurotransmitter Agents Phase 1, Phase 2

Interventional clinical trials:

(show all 41)
# 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 Bone Marrow Transplantation for Non-Malignant Congenital Bone Marrow Failure Disorders Completed NCT00176878 Phase 2, Phase 3 Fludarabine monophosphate;Busulfan
3 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
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 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
7 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
8 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
9 Treatment of Diamond Blackfan Anemia With Antithymocyte Globulin and Cyclosporine A Completed NCT00001749 Phase 2 Antithymocyte globulin;Cyclosporine
10 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
11 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
12 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
13 Investigation of G-CSF-Induced Stem Cell Mobilization Potential in Patients With Diamond-Blackfan Anemia Completed NCT00011505 Phase 2 G-CSF
14 Treatment of Refractory Diamond-Blackfan Anemia With Eltrombopag Recruiting NCT04269889 Phase 1, Phase 2 Eltrombopag
15 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
16 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 Recruiting NCT03513328 Phase 1, Phase 2 Thiotepa--single daily dose;Thiotepa--escalated dose
17 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 Recruiting NCT01464164 Phase 1, Phase 2 Sotatercept;Sotatercept with prednisone boost
18 Phase I/II, Open Label Study to Determine Safety of Trifluoperazine (TFP) in Adults With Red Blood Cell Transfusion-Dependent Diamond Blackfan Anemia Recruiting NCT03966053 Phase 1, Phase 2 Trifluoperazine
19 A Phase II Trial of Haploidentical Allogeneic Stem Cell Transplantation Utilizing Mobilized Peripheral Blood Stem Cells Recruiting NCT03333486 Phase 2 Cyclophosphamide;Fludarabine Phosphate
20 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 Active, not recruiting NCT01362595 Phase 1, Phase 2 leucine
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 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
23 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 Enrolling by invitation NCT03733249 Phase 1, Phase 2 Rimiducid
24 Allogeneic Stem Cell Transplantation for Malignant and Non-malignant Hematologic Diseases Utilizing Alpha/Beta T Cell and CD19+ B Cell Depletion - NYMC 588 Not yet recruiting NCT04099966 Phase 2 alpha beta depletion
25 Phase I/II Pilot Study of Mixed Chimerism to Treat Hemoglobinopathies Suspended NCT01419704 Phase 1, Phase 2
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 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
28 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
29 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 Active, not recruiting NCT01586455 Phase 1 Human Placental Derived Stem Cell
30 A Pilot Study of Lenalidomide in Adult Diamond-Blackfan Anemia Patients With Red Blood Cell Transfusion-Dependent Anemia Terminated NCT01034592 Phase 1 Lenalidomide
31 Modulation of Iron Deposition in Sickle Cell Disease and Other Hemoglobinopathies SURVEY STUDY Completed NCT01913548
32 Pilot Study Examining Mechanisms of Iron Trafficking and Extra-hepatic Iron Distribution in Sickle Cell Disease, Thalassemia, and Other Iron Loading Anemias Completed NCT01114776
33 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
34 Investigation of the Genetics of Hematologic Diseases Recruiting NCT02720679
35 Etiologic Investigation of Cancer Susceptibility in Inherited Bone Marrow Failure Syndromes: A Natural History Study Recruiting NCT00027274
36 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
37 Combined Haploidentical Reduced Intensity Bone Marrow and Kidney Transplantation for Patients With Chronic Kidney Disease and Advanced Hematological Disorders Recruiting NCT01758042
38 Diamond Blackfan Anemia Registry (DBAR) Recruiting NCT00106015
39 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
40 Alefacept and Allogeneic Hematopoietic Stem Cell Transplantation for Children With Non-Malignant Diseases Who Have Been Multiply Transfused: a Pilot Study Terminated NCT01319851 Alefacept
41 Transplantation of Umbilical Cord Blood From Related and Unrelated Donors Terminated NCT00290628 anti-thymocyte globulin;busulfan;cyclophosphamide;cyclosporine;filgrastim;melphalan;methylprednisolone;mycophenolate mofetil

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 29 RPS19

Anatomical Context for Diamond-Blackfan Anemia 1

MalaCards organs/tissues related to Diamond-Blackfan Anemia 1:

40
Bone Marrow, Bone, Skin, T Cells, Liver, Lung, Kidney

Publications for Diamond-Blackfan Anemia 1

Articles related to Diamond-Blackfan Anemia 1:

(show top 50) (show all 202)
# Title Authors PMID Year
1
Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia. 57 6
23812780 2013
2
Target enrichment and high-throughput sequencing of 80 ribosomal protein genes to identify mutations associated with Diamond-Blackfan anaemia. 6 57
23718193 2013
3
The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update. 6 57
20960466 2010
4
Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients. 6 57
19061985 2008
5
Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia. 6 57
17186470 2006
6
Mutations in ribosomal protein S19 gene and diamond blackfan anemia: wide variations in phenotypic expression. 6 57
10590074 1999
7
The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia. 6 57
9988267 1999
8
Expansion of germline RPS20 mutation phenotype to include Diamond-Blackfan anemia. 6
32790018 2020
9
Tissue-selective effects of nucleolar stress and rDNA damage in developmental disorders. 57
29364875 2018
10
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands. 6
28991257 2017
11
Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes. 6
28102861 2017
12
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. 6
28376382 2017
13
Initiation of Quality Control during Poly(A) Translation Requires Site-Specific Ribosome Ubiquitination. 6
28065601 2017
14
ZNF598 and RACK1 Regulate Mammalian Ribosome-Associated Quality Control Function by Mediating Regulatory 40S Ribosomal Ubiquitylation. 6
28132843 2017
15
Clinical features, mutations and treatment of 104 patients of Diamond-Blackfan anemia in China: a single-center retrospective study. 6
27329125 2016
16
Improving diagnostic precision, care and syndrome definitions using comprehensive next-generation sequencing for the inherited bone marrow failure syndromes. 6
26136524 2015
17
Clinical and genomic heterogeneity of Diamond Blackfan anemia in the Russian Federation. 6
25946618 2015
18
Loss of function mutations in RPL27 and RPS27 identified by whole-exome sequencing in Diamond-Blackfan anaemia. 57
25424902 2015
19
Altered translation of GATA1 in Diamond-Blackfan anemia. 6
24952648 2014
20
Loss of GATA-1 full length as a cause of Diamond-Blackfan anemia phenotype. 6
24453067 2014
21
PML4 facilitates erythroid differentiation by enhancing the transcriptional activity of GATA-1. 6
24255919 2014
22
Analysis of disease-causing GATA1 mutations in murine gene complementation systems. 6
23704091 2013
23
First de novo mutation in RPS19 gene as the cause of hydrops fetalis in Diamond-Blackfan anemia. 6
23349008 2013
24
High frequency of ribosomal protein gene deletions in Italian Diamond-Blackfan anemia patients detected by multiplex ligation-dependent probe amplification assay. 6
22689679 2012
25
Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia. 6
22706301 2012
26
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
22431104 2012
27
Genetic analysis of inherited bone marrow failure syndromes from one prospective, comprehensive and population-based cohort and identification of novel mutations. 6
21659346 2011
28
A transgenic mouse model demonstrates a dominant negative effect of a point mutation in the RPS19 gene associated with Diamond-Blackfan anemia. 6
20606162 2010
29
Mutations in the ribosomal protein genes in Japanese patients with Diamond-Blackfan anemia. 6
20378560 2010
30
Ribosomal protein S19 binds to its own mRNA with reduced affinity in Diamond-Blackfan anemia. 6
20395159 2010
31
[Diamond-Blackfan anemia confirmed by RPS19 gene mutation analysis: a case study and literature review of Korean patients]. 6
20603584 2010
32
Methylation of ribosomal protein S10 by protein-arginine methyltransferase 5 regulates ribosome biogenesis. 6
20159986 2010
33
Diamond-Blackfan anemia: genotype-phenotype correlations in Italian patients with RPL5 and RPL11 mutations. 6
19773262 2010
34
Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia. 6
20116044 2010
35
Ribosomal protein S19 and S24 insufficiency cause distinct cell cycle defects in Diamond-Blackfan anemia. 6
19689926 2009
36
The evolving spectrum of 'non-classical' Diamond-Blackfan anaemia--a case of eADA positive pancytopenia in a young adult. 57
19208100 2009
37
Study of the effects of proteasome inhibitors on ribosomal protein S19 (RPS19) mutants, identified in patients with Diamond-Blackfan anemia. 6
18768533 2008
38
RPS19 mutations in patients with Diamond-Blackfan anemia. 6
18412286 2008
39
Missense mutations associated with Diamond-Blackfan anemia affect the assembly of ribosomal protein S19 into the ribosome. 6
17517689 2007
40
Impaired ribosome biogenesis in Diamond-Blackfan anemia. 6
17053056 2007
41
Human RPS19, the gene mutated in Diamond-Blackfan anemia, encodes a ribosomal protein required for the maturation of 40S ribosomal subunits. 57
16990592 2007
42
Molecular basis of Diamond-Blackfan anemia: structure and function analysis of RPS19. 6
17726054 2007
43
Translational efficiency in patients with Diamond-Blackfan anemia. 6
17082006 2006
44
Defective ribosomal protein gene expression alters transcription, translation, apoptosis, and oncogenic pathways in Diamond-Blackfan anemia. 57
16741228 2006
45
An inherited mutation leading to production of only the short isoform of GATA-1 is associated with impaired erythropoiesis. 6
16783379 2006
46
GATA-1: one protein, many partners. 6
16095949 2006
47
Specific Role for Yeast Homologs of the Diamond Blackfan Anemia-associated Rps19 Protein in Ribosome Synthesis. 6
16159874 2005
48
GATA-1 forms distinct activating and repressive complexes in erythroid cells. 6
15920471 2005
49
RNA and protein evidence for haplo-insufficiency in Diamond-Blackfan anaemia patients with RPS19 mutations. 6
15384984 2004
50
Molecular basis of Diamond-Blackfan anemia: new findings from the Italian registry and a review of the literature. 6
15075082 2004

Variations for Diamond-Blackfan Anemia 1

ClinVar genetic disease variations for Diamond-Blackfan Anemia 1:

6 (show top 50) (show all 318)
# 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 RPL11 NC_000001.11:g.(?_23691824)_(23696373_?)del Deletion Pathogenic 832897 GRCh37: 1:24018314-24022863
GRCh38:
3 DIPK1A , RPL5 NM_000969.5(RPL5):c.15dup (p.Val6fs) Duplication Pathogenic 851814 GRCh37: 1:93298954-93298955
GRCh38: 1:92833397-92833398
4 RPL11 NM_000975.5(RPL11):c.223C>T (p.Arg75Ter) SNV Pathogenic 5751 rs121434389 GRCh37: 1:24020362-24020362
GRCh38: 1:23693872-23693872
5 DIPK1A , RPL5 NM_000969.5(RPL5):c.169_172del (p.Asn57fs) Deletion Pathogenic 579583 rs1558284033 GRCh37: 1:93299194-93299197
GRCh38: 1:92833637-92833640
6 RPS24 NC_000010.11:g.(?_78033902)_(78033914_?)del Deletion Pathogenic 831866 GRCh37: 10:79793660-79793672
GRCh38:
7 overlap with 17 genes GRCh37/hg19 1p22.1(chr1:92405898-94018197)x1 copy number loss Pathogenic 981207 GRCh37: 1:92405898-94018197
GRCh38:
8 RPL11 NM_000975.5(RPL11):c.160dup (p.Arg54fs) Duplication Pathogenic 856991 GRCh37: 1:24020298-24020299
GRCh38: 1:23693808-23693809
9 RPS19 NM_001022.4(RPS19):c.99G>A (p.Trp33Ter) SNV Pathogenic 940523 GRCh37: 19:42365208-42365208
GRCh38: 19:41861139-41861139
10 RPS19 NM_001022.4(RPS19):c.16del (p.Thr5_Val6insTer) Deletion Pathogenic 940580 GRCh37: 19:42364860-42364860
GRCh38: 19:41860790-41860790
11 RPS19 NM_001022.4(RPS19):c.43G>T (p.Val15Phe) SNV Pathogenic 6319 rs104894717 GRCh37: 19:42364887-42364887
GRCh38: 19:41860817-41860817
12 DIPK1A , RPL5 NM_000969.5(RPL5):c.459_460insTGAA (p.Thr154Ter) Insertion Pathogenic 1030925 GRCh37: 1:93301881-93301882
GRCh38: 1:92836324-92836325
13 GATA1 NM_002049.4(GATA1):c.35C>G (p.Ser12Ter) SNV Pathogenic 952388 GRCh37: X:48649551-48649551
GRCh38: X:48791144-48791144
14 RPS19 NM_001022.4(RPS19):c.98G>A (p.Trp33Ter) SNV Pathogenic 6315 rs104894716 GRCh37: 19:42365207-42365207
GRCh38: 19:41861138-41861138
15 RPS20 NM_001023.4(RPS20):c.251T>A (p.Ile84Asn) SNV Pathogenic 981188 GRCh37: 8:56985758-56985758
GRCh38: 8:56073199-56073199
16 RPS20 NM_001023.4(RPS20):c.251T>G (p.Ile84Ser) SNV Pathogenic 981187 GRCh37: 8:56985758-56985758
GRCh38: 8:56073199-56073199
17 DIPK1A , RPL5 NM_000969.5(RPL5):c.256dup (p.Tyr86fs) Duplication Pathogenic 463366 rs1553121909 GRCh37: 1:93300401-93300402
GRCh38: 1:92834844-92834845
18 GATA1 NM_002049.3(GATA1):c.89C>G (p.Ser30Ter) SNV Pathogenic 465134 rs1557020021 GRCh37: X:48649605-48649605
GRCh38: X:48791198-48791198
19 RPS19 NM_001022.4(RPS19):c.294_295TG[3] (p.Ala100fs) Microsatellite Pathogenic 463373 rs1555841356 GRCh37: 19:42373220-42373221
GRCh38: 19:41869150-41869151
20 DIPK1A , RPL5 NM_000969.5(RPL5):c.187C>T (p.Gln63Ter) SNV Pathogenic 570764 rs1558284062 GRCh37: 1:93299215-93299215
GRCh38: 1:92833658-92833658
21 RPL11 NC_000001.11:g.(?_23695788)_(23696383_?)del Deletion Pathogenic 642046 GRCh37: 1:24022278-24022873
GRCh38: 1:23695788-23696383
22 RPS19 NM_001022.4(RPS19):c.173-2A>G SNV Pathogenic 644396 rs111833764 GRCh37: 19:42373099-42373099
GRCh38: 19:41869029-41869029
23 DIPK1A , RPL5 NM_000969.5(RPL5):c.157_169dup (p.Asn57fs) Duplication Pathogenic 649954 rs1571024385 GRCh37: 1:93299183-93299184
GRCh38: 1:92833626-92833627
24 RPS19 NC_000019.9:g.(?_42373091)_(42375455_?)del Deletion Pathogenic 650720 GRCh37: 19:42373091-42375455
GRCh38:
25 GATA1 NM_002049.3(GATA1):c.5_8dup (p.Phe3fs) Duplication Pathogenic 660513 rs1602218917 GRCh37: X:48649520-48649521
GRCh38: X:48791113-48791114
26 RPS24 NM_001026.4(RPS24):c.13_14del (p.Val5fs) Deletion Pathogenic 662877 rs1589326484 GRCh37: 10:79795119-79795120
GRCh38: 10:78035361-78035362
27 DIPK1A , RPL5 NM_000969.5(RPL5):c.692dup (p.Thr232fs) Duplication Pathogenic 692051 rs1571032029 GRCh37: 1:93303176-93303177
GRCh38: 1:92837619-92837620
28 DIPK1A , RPL5 NM_000969.5(RPL5):c.268del (p.Val90fs) Deletion Pathogenic 930202 GRCh37: 1:93300413-93300413
GRCh38: 1:92834856-92834856
29 RPS19 NM_001022.4(RPS19):c.295_296delinsCAGCCGA (p.Val99fs) Indel Pathogenic 977494 GRCh37: 19:42373223-42373224
GRCh38: 19:41869153-41869154
30 DIPK1A , RPL5 NM_000969.5(RPL5):c.634dup (p.Met212fs) Duplication Pathogenic 965003 GRCh37: 1:93303117-93303118
GRCh38: 1:92837560-92837561
31 DIPK1A , RPL5 NM_000969.5(RPL5):c.67C>T (p.Arg23Ter) SNV Pathogenic 6179 rs121434405 GRCh37: 1:93299009-93299009
GRCh38: 1:92833452-92833452
32 RPL11 NM_000975.5(RPL11):c.158-1G>A SNV Pathogenic 5754 rs151155897 GRCh37: 1:24020296-24020296
GRCh38: 1:23693806-23693806
33 GATA1 NM_002049.4(GATA1):c.49C>T (p.Gln17Ter) SNV Pathogenic 945515 GRCh37: X:48649565-48649565
GRCh38: X:48791158-48791158
34 RPS19 NM_001022.4(RPS19):c.257dup (p.Val87fs) Duplication Pathogenic 950789 GRCh37: 19:42373183-42373184
GRCh38: 19:41869113-41869114
35 GATA1 NM_002049.4(GATA1):c.98dup (p.Phe34fs) Duplication Pathogenic 862155 GRCh37: X:48649610-48649611
GRCh38: X:48791203-48791204
36 RPS19 NM_001022.4(RPS19):c.3G>A (p.Met1Ile) SNV Pathogenic 860401 GRCh37: 19:42364847-42364847
GRCh38: 19:41860777-41860777
37 RPS19 NM_001022.4(RPS19):c.184C>T (p.Arg62Trp) SNV Pathogenic 6314 rs104894711 GRCh37: 19:42373112-42373112
GRCh38: 19:41869042-41869042
38 RPS19 NM_001022.4(RPS19):c.13dup (p.Thr5fs) Duplication Pathogenic 858368 GRCh37: 19:42364856-42364857
GRCh38: 19:41860786-41860787
39 DIPK1A , RPL5 NM_000969.5(RPL5):c.9_12del (p.Phe3fs) Deletion Pathogenic 842399 GRCh37: 1:93298948-93298951
GRCh38: 1:92833391-92833394
40 DIPK1A , RPL5 NM_000969.5(RPL5):c.48C>G (p.Tyr16Ter) SNV Pathogenic 664540 rs148673599 GRCh37: 1:93298990-93298990
GRCh38: 1:92833433-92833433
41 DIPK1A , RPL5 NM_000969.5(RPL5):c.173_174GA[1] (p.Asp59fs) Microsatellite Pathogenic 662012 rs1571024430 GRCh37: 1:93299200-93299201
GRCh38: 1:92833643-92833644
42 RPS10-NUDT3 , RPS10 NM_001014.5(RPS10):c.285_292del (p.Arg96fs) Deletion Pathogenic 653431 rs1581931439 GRCh37: 6:34392476-34392483
GRCh38: 6:34424699-34424706
43 GATA1 NM_002049.3(GATA1):c.166_187dup (p.Tyr63fs) Duplication Pathogenic 647140 rs1602219139 GRCh37: X:48649679-48649680
GRCh38: X:48791272-48791273
44 RPL11 NM_000975.5(RPL11):c.62_63del (p.Cys21fs) Deletion Pathogenic 643018 rs1570566592 GRCh37: 1:24019153-24019154
GRCh38: 1:23692663-23692664
45 RPL11 NM_000975.5(RPL11):c.508-2A>G SNV Pathogenic 639774 rs1570569383 GRCh37: 1:24022832-24022832
GRCh38: 1:23696342-23696342
46 RPS19 NM_001022.4(RPS19):c.367_368dup (p.Leu123_Thr124insTer) Duplication Pathogenic 587695 rs1568796003 GRCh37: 19:42373778-42373779
GRCh38: 19:41869708-41869709
47 RPL11 NC_000001.11:g.(?_23691814)_(23696383_?)del Deletion Pathogenic 583762 GRCh37: 1:24018304-24022873
GRCh38: 1:23691814-23696383
48 RPS19 NM_001022.4(RPS19):c.384_385del (p.Asp130fs) Deletion Pathogenic 580015 rs869066130 GRCh37: 19:42373795-42373796
GRCh38: 19:41869725-41869726
49 DIPK1A , RPL5 NM_000969.5(RPL5):c.169_172del (p.Asn57fs) Deletion Pathogenic 579583 rs1558284033 GRCh37: 1:93299194-93299197
GRCh38: 1:92833637-92833640
50 DIPK1A , RPL5 NM_000969.5(RPL5):c.70C>T (p.Arg24Ter) SNV Pathogenic 572903 rs1558283853 GRCh37: 1:93299012-93299012
GRCh38: 1:92833455-92833455

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

72 (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 rs155584130
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 top 50) (show all 51)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.83 TP53 TNFSF11 TNF IL6 IL1B IL17A
2
Show member pathways
13.82 TNF RPS24 RPS20 RPS19 RPS10-NUDT3 RPS10
3
Show member pathways
13.68 TP53 TNFSF11 TNF IL6 IL1B IL17A
4
Show member pathways
13.42 TP53 TNFSF11 TNF IL6 IL1B IL17A
5
Show member pathways
13.36 TP53 TNFSF11 TNF IL6 IL1B IL17A
6
Show member pathways
13.31 TNFSF11 TNF IL6 IL1B IL17A IL10
7
Show member pathways
12.94 RPS24 RPS20 RPS19 RPS10 RPL5 RPL11
8
Show member pathways
12.88 TNF IL6 IL1B IL17A IL10 CD4
9
Show member pathways
12.82 TP53 TNF IL6 IL1B CD28
10
Show member pathways
12.75 RPS24 RPS20 RPS19 RPS10 RPL5 RPL11
11
Show member pathways
12.56 TNF IL6 IL1B IL17A IL10 CD4
12
Show member pathways
12.54 TNF IL6 IL1B IL17A IL10 CD4
13
Show member pathways
12.51 TP53 TNF IL6 IL1B IL17A IL10
14 12.43 TNFSF11 TNF IL1B IL17A IL10 GATA1
15
Show member pathways
12.39 RPS24 RPS20 RPS19 RPS10
16 12.34 TP53 TNF IL6 CD4
17
Show member pathways
12.34 TP53 TNF IL6 IL1B
18
Show member pathways
12.33 TNF IL6 IL1B IL17A
19
Show member pathways
12.29 TP53 TNF IL6 IL1B IL17A IL10
20 12.24 TNF IL6 IL1B IL10
21
Show member pathways
12.21 TNF IL6 IL1B IL10
22 12.18 TNF IL6 IL1B IL10
23 12.1 TNF IL6 IL1B IL10 CD4
24 12.03 TP53 TNF IL6 IL1B
25 12.01 TNF IL6 IL10 CD4 CD28
26 11.94 TNF IL6 IL1B IL10
27 11.92 TNF IL6 IL1B CD4
28
Show member pathways
11.85 IL6 IL1B IL17A CD4 CD28
29 11.79 TNF IL6 IL1B IL10
30 11.79 TP53 TNF IL6 IL1B IL17A IL10
31 11.73 TNF IL6 IL10 CD28
32 11.71 TNF IL1B IL17A IL10 CD4
33
Show member pathways
11.67 TNF IL6 IL1B
34 11.67 TNF IL6 IL1B
35 11.63 TP53 RPL5 RPL11
36 11.62 TNF IL6 IL1B
37 11.6 TNFSF11 TNF IL6 IL1B IL17A CD28
38 11.59 TNF IL6 IL1B IL10 CD4
39 11.58 TNF IL6 IL1B IL10
40 11.57 TNF IL6 IL1B IL10
41 11.56 TP53 TNF IL6
42 11.53 IL6 IL1B GATA1
43 11.51 TNFSF11 TNF IL6 IL1B
44 11.5 IL10 CD4 CD28
45 11.41 TNF IL6 IL1B IL10
46 11.37 TNF IL6 IL1B IL10
47 11.32 TNF IL6 IL1B IL17A
48 11.31 TNF IL6 IL1B
49
Show member pathways
11.05 TNF IL6 IL1B IL17A IL10 CD4
50 11.03 TNFSF11 TNF IL6 IL1B IL17A IL10

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 cytosolic small ribosomal subunit GO:0022627 9.26 RPS24 RPS20 RPS19 RPS10
2 ribosome GO:0005840 9.17 RPS24 RPS20 RPS19 RPS10-NUDT3 RPS10 RPL5

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

(show all 49)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.2 TP53 TNFSF11 TNF IL6 IL17A IL10
2 positive regulation of transcription, DNA-templated GO:0045893 10.11 TP53 TNF IL6 IL1B IL10 GATA1
3 negative regulation of cell proliferation GO:0008285 10.09 TP53 IL6 IL1B IL10 GATA1
4 positive regulation of gene expression GO:0010628 10.01 TP53 TNFSF11 TNF RPL5 RPL11 IL6
5 cellular response to lipopolysaccharide GO:0071222 9.97 TNF IL6 IL1B IL10
6 translation GO:0006412 9.97 RPS24 RPS20 RPS19 RPS10 RPL5 RPL11
7 immune response GO:0006955 9.97 TNFSF11 TNF IL6 IL1B IL17A IL10
8 rRNA processing GO:0006364 9.96 RPS24 RPS19 RPL5 RPL11
9 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.95 TNFSF11 TNF IL6 IL1B
10 positive regulation of translation GO:0045727 9.88 RPL5 IL6 CD28
11 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.88 TP53 IL6 GATA1 CD4
12 regulation of insulin secretion GO:0050796 9.87 TNF IL6 IL1B
13 response to glucocorticoid GO:0051384 9.86 TNF IL6 IL10
14 positive regulation of interleukin-6 production GO:0032755 9.86 TNF IL6 IL1B IL17A
15 positive regulation of interleukin-8 production GO:0032757 9.85 TNF IL6 IL1B
16 humoral immune response GO:0006959 9.85 TNF IL6 CD28
17 positive regulation of interleukin-1 beta production GO:0032731 9.85 TNF IL6 IL17A
18 defense response to Gram-negative bacterium GO:0050829 9.85 RPS19 IL6 IL17A CD4
19 positive regulation of DNA-binding transcription factor activity GO:0051091 9.85 TNFSF11 TNF IL6 IL1B IL10
20 monocyte chemotaxis GO:0002548 9.82 TNFSF11 RPS19 IL6
21 positive regulation of pri-miRNA transcription by RNA polymerase II GO:1902895 9.81 TP53 TNF IL10
22 negative regulation of mitotic cell cycle GO:0045930 9.81 TP53 TNF IL10
23 positive regulation of T cell proliferation GO:0042102 9.81 IL6 IL1B CD4 CD28
24 negative regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001240 9.8 TNF IL1B GATA1
25 translational initiation GO:0006413 9.8 RPS24 RPS20 RPS19 RPS10 RPL5 RPL11
26 positive regulation of JAK-STAT cascade GO:0046427 9.79 TNF IL6 IL10
27 positive regulation of interleukin-2 production GO:0032743 9.79 IL1B CD4 CD28
28 negative regulation of neurogenesis GO:0050768 9.78 TNF IL6 IL1B
29 positive regulation of cytokine production involved in inflammatory response GO:1900017 9.77 TNF IL6 IL17A
30 positive regulation of osteoclast differentiation GO:0045672 9.76 TNFSF11 TNF IL17A
31 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay GO:0000184 9.73 RPS24 RPS20 RPS19 RPS10 RPL5 RPL11
32 negative regulation of production of miRNAs involved in gene silencing by miRNA GO:1903799 9.71 TP53 TNF
33 positive regulation of glial cell proliferation GO:0060252 9.71 TNF IL6 IL1B
34 negative regulation of ubiquitin protein ligase activity GO:1904667 9.7 RPL5 RPL11
35 regulation of establishment of endothelial barrier GO:1903140 9.7 TNF IL1B
36 response to salt stress GO:0009651 9.7 TP53 TNF
37 positive regulation of heterotypic cell-cell adhesion GO:0034116 9.7 TNF IL1B IL10
38 negative regulation of lipid storage GO:0010888 9.69 TNF IL6
39 endothelial cell apoptotic process GO:0072577 9.68 TNF IL10
40 negative regulation of cytokine production involved in immune response GO:0002719 9.67 TNF IL10
41 negative regulation of protein neddylation GO:2000435 9.66 RPL5 RPL11
42 positive regulation of fever generation GO:0031622 9.65 TNF IL1B
43 positive regulation of neuroinflammatory response GO:0150078 9.65 TNF IL6 IL1B
44 sequestering of triglyceride GO:0030730 9.64 TNF IL1B
45 viral transcription GO:0019083 9.63 RPS24 RPS20 RPS19 RPS10 RPL5 RPL11
46 positive regulation of calcidiol 1-monooxygenase activity GO:0060559 9.62 TNF IL1B
47 vascular endothelial growth factor production GO:0010573 9.61 TNF IL6 IL1B
48 SRP-dependent cotranslational protein targeting to membrane GO:0006614 9.43 RPS24 RPS20 RPS19 RPS10 RPL5 RPL11
49 cytokine-mediated signaling pathway GO:0019221 9.23 TP53 TNFSF11 TNF IL6 IL1B IL17A

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

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 9.43 TNFSF11 TNF IL6 IL1B IL17A IL10
2 5S rRNA binding GO:0008097 9.26 RPL5 RPL11
3 ubiquitin ligase inhibitor activity GO:1990948 9.16 RPL5 RPL11
4 structural constituent of ribosome GO:0003735 9.1 RPS24 RPS20 RPS19 RPS10 RPL5 RPL11

Sources for Diamond-Blackfan Anemia 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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