DBA1
MCID: DMN023
MIFTS: 53

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 58 76 30 13 6 74
Aase Syndrome 58 77 76 30 74
Erythrogenesis Imperfecta 58 76 74
Blackfan-Diamond Syndrome 58 76
Aase-Smith Syndrome Ii 58 76
Dba1 58 76
Dba 58 76
Bds 58 76
Anemia, Congenital Hypoplastic, of Blackfan and Diamond 58
Congenital Hypoplastic Anemia of Blackfan and Diamond 76
Anemia, Congenital Erythroid Hypoplastic 58
Aregenerative Anemia, Chronic Congenital 58
Congenital Erythroid Hypoplastic Anemia 76
Chronic Congenital Aregenerative Anemia 76
Red Cell Aplasia, Pure, Hereditary 58
Pure Hereditary Red Cell Aplasia 76
Anemia, Diamond-Blackfan, Type 1 41
Blackfan-Diamond Syndrome; Bds 58
Anemia, Diamond-Blackfan 74
Aase Smith Syndrome 2 74

Characteristics:

OMIM:

58
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:

33
diamond-blackfan anemia 1:
Onset and clinical course infantile onset
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Diamond-Blackfan Anemia 1

OMIM : 58 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)

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

UniProtKB/Swiss-Prot : 76 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 : 77 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 103)
# Related Disease Score Top Affiliating Genes
1 diamond-blackfan anemia 31.3 MIR6797 RPL5 RPS19
2 congenital hypoplastic anemia 30.2 RPL5 RPS19
3 behcet syndrome 11.8
4 diamond-blackfan anemia 6 11.5
5 binswanger's disease 11.4
6 subcortical arteriosclerotic encephalopathy 11.4
7 dementia - subcortical 11.4
8 intellectual disability - athetosis - microphthalmia 11.4
9 diamond-blackfan anemia 2 11.4
10 boomerang dysplasia 11.3
11 aase-smith syndrome i 11.3
12 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech 11.3
13 brody myopathy 11.3
14 facio skeletal genital syndrome rippberger type 11.1
15 brachydactyly, type e1 11.1
16 bipolar i disorder 11.0
17 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 11.0
18 diamond-blackfan anemia 3 11.0
19 diamond-blackfan anemia 4 11.0
20 diamond-blackfan anemia 5 11.0
21 diamond-blackfan anemia 7 11.0
22 diamond-blackfan anemia 8 11.0
23 diamond-blackfan anemia 9 11.0
24 diamond-blackfan anemia 10 11.0
25 diamond-blackfan anemia 11 11.0
26 diamond-blackfan anemia 12 11.0
27 bipolar disorder 10.5
28 maternal uniparental disomy of chromosome 16 10.3
29 influenza 10.3
30 hepatocellular carcinoma 10.2
31 aregenerative anemia 10.1
32 depression 10.1
33 chlamydia 10.1
34 tetralogy of fallot 10.0
35 asthma 10.0
36 multiple sclerosis 9.9
37 psoriasis 2 9.9
38 psoriasis 7 9.9
39 anxiety 9.9
40 psoriasis 11 9.9
41 psoriasis 13 9.9
42 duodenal ulcer 9.9
43 vaginitis 9.9
44 glioblastoma multiforme 9.9
45 herpes simplex 9.9
46 psoriasis 9.9
47 stomatitis 9.9
48 aphthous stomatitis 9.9
49 acute mountain sickness 9.9
50 glioblastoma 9.9

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:

33 (show all 44)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 occasional (7.5%) HP:0001249
2 hypertelorism 33 HP:0000316
3 short neck 33 HP:0000470
4 high palate 33 HP:0000218
5 failure to thrive 33 HP:0001508
6 microcephaly 33 HP:0000252
7 short stature 33 HP:0004322
8 cleft palate 33 HP:0000175
9 micrognathia 33 HP:0000347
10 pallor 33 HP:0000980
11 myelodysplasia 33 HP:0002863
12 retrognathia 33 HP:0000278
13 strabismus 33 HP:0000486
14 narrow chest 33 HP:0000774
15 congestive heart failure 33 HP:0001635
16 intrauterine growth retardation 33 HP:0001511
17 webbed neck 33 HP:0000465
18 atrial septal defect 33 HP:0001631
19 coarctation of aorta 33 HP:0001680
20 thrombocytopenia 33 HP:0001873
21 depressed nasal ridge 33 HP:0000457
22 downslanted palpebral fissures 33 HP:0000494
23 colon cancer 33 HP:0003003
24 ventricular septal defect 33 HP:0001629
25 thrombocytosis 33 HP:0001894
26 neutropenia 33 HP:0001875
27 osteosarcoma 33 HP:0002669
28 triphalangeal thumb 33 HP:0001199
29 partial duplication of thumb phalanx 33 HP:0009944
30 cleft upper lip 33 HP:0000204
31 premature birth 33 HP:0001622
32 hypoplasia of the radius 33 HP:0002984
33 delayed cranial suture closure 33 HP:0000270
34 11 pairs of ribs 33 HP:0000878
35 short thumb 33 HP:0009778
36 hypoplastic ilia 33 HP:0000946
37 bifid thoracic vertebrae 33 HP:0008437
38 absent thumb 33 HP:0009777
39 reticulocytopenia 33 HP:0001896
40 congenital hypoplastic anemia 33 HP:0004810
41 parietal foramina 33 HP:0002697
42 hypoplastic sacral vertebrae 33 HP:0008475
43 hypoplastic coccygeal vertebrae 33 HP:0008447
44 elevated red cell adenosine deaminase activity 33 HP:0030270

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
strabismus
downslanting palpebral fissures

Growth Other:
failure to thrive
intrauterine growth retardation, mild

Growth Height:
short stature

Head And Neck Face:
micrognathia
retrognathia

Cardiovascular Heart:
atrial septal defect
ventricular septal defect

Neoplasia:
colon cancer
osteogenic sarcoma
myelodysplastic syndrome

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

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

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

Skin Nails Hair Skin:
pallor

Hematology:
thrombocytopenia
thrombocytosis
reticulocytopenia
anemia, congenital hypoplastic, moderate-severe (normochromic, macrocytic)
neutropenia, mild
more
Prenatal Manifestations Delivery:
premature birth

Skeletal Pelvis:
hypoplastic ilia

Skeletal Skull:
parietal foramina

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

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

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased cell number GR00098-A-1 9.26 RPL5 RPS19
2 Decreased cell number GR00303-A 9.26 RPL5 RPS19
3 Decreased viability GR00106-A-0 9.02 RPL5 RPS19
4 Decreased viability GR00381-A-1 9.02 RPS19
5 Decreased viability GR00402-S-2 9.02 RPL5 RPS19

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 93)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iron Approved, Experimental Phase 4,Phase 3,Phase 2,Not Applicable 7439-89-6, 15438-31-0 23925 27284
2
Deferasirox Approved, Investigational Phase 4,Phase 3,Phase 2 201530-41-8 5493381
3 Liver Extracts Phase 4,Phase 1,Phase 2
4 Iron Chelating Agents Phase 4,Phase 3,Phase 2
5 Nutrients Phase 4,Phase 3,Phase 2
6 Chelating Agents Phase 4,Phase 3,Phase 2
7 Trace Elements Phase 4,Phase 3,Phase 2
8 Micronutrients Phase 4,Phase 3,Phase 2
9
Busulfan Approved, Investigational Phase 2, Phase 3,Phase 3,Phase 1,Early Phase 1,Not Applicable 55-98-1 2478
10
Vidarabine Approved, Investigational Phase 2, Phase 3,Phase 3,Early Phase 1 24356-66-9 21704 32326
11
Fludarabine Approved Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable,Early Phase 1 75607-67-9, 21679-14-1 30751
12 Orange Approved Phase 3
13
Sargramostim Approved, Investigational Phase 2, Phase 3 123774-72-1, 83869-56-1
14
alemtuzumab Approved, Investigational Phase 2, Phase 3,Phase 1,Early Phase 1,Not Applicable 216503-57-0
15
Cyclophosphamide Approved, Investigational Phase 2, Phase 3,Phase 1,Not Applicable,Early Phase 1 6055-19-2, 50-18-0 2907
16
Lenograstim Approved, Investigational Phase 2, Phase 3,Not Applicable 135968-09-1
17 Antilymphocyte Serum Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable
18 Alkylating Agents Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable,Early Phase 1
19 Antimetabolites, Antineoplastic Phase 2, Phase 3,Phase 3,Phase 1,Early Phase 1
20 Immunologic Factors Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable,Early Phase 1
21 Immunosuppressive Agents Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable,Early Phase 1
22 Antimetabolites Phase 2, Phase 3,Phase 3,Phase 1,Early Phase 1
23 Anti-Infective Agents Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable,Early Phase 1
24 Antineoplastic Agents, Alkylating Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable,Early Phase 1
25 Antiviral Agents Phase 2, Phase 3,Phase 3,Early Phase 1
26 Antirheumatic Agents Phase 2, Phase 3,Phase 1,Not Applicable,Early Phase 1
27 Adjuvants, Immunologic Phase 2, Phase 3
28 Antineoplastic Agents, Immunological Phase 2, Phase 3,Phase 1
29
Deferoxamine Approved, Investigational Phase 2 70-51-9 2973
30
Prednisone Approved, Vet_approved Phase 1, Phase 2 53-03-2 5865
31
rituximab Approved Phase 2,Phase 1,Not Applicable 174722-31-7 10201696
32
Miconazole Approved, Investigational, Vet_approved Phase 2,Phase 1,Not Applicable 22916-47-8 4189
33
Hydroxyurea Approved Phase 1, Phase 2,Phase 2 127-07-1 3657
34
Thiotepa Approved, Investigational Phase 1, Phase 2,Phase 2,Not Applicable 52-24-4 5453
35
leucovorin Approved Phase 2 58-05-9 6006 143
36
Methylprednisolone Approved, Vet_approved Phase 2,Phase 1,Not Applicable 83-43-2 6741
37
Methylprednisolone hemisuccinate Approved Phase 2,Phase 1,Not Applicable 2921-57-5
38
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
39
Prednisolone Approved, Vet_approved Phase 2,Phase 1,Not Applicable 50-24-8 5755
40
Prednisolone phosphate Approved, Vet_approved Phase 2,Phase 1,Not Applicable 302-25-0
41
Melphalan Approved Phase 2,Phase 1,Not Applicable,Early Phase 1 148-82-3 460612 4053
42
Tacrolimus Approved, Investigational Phase 2,Phase 1 104987-11-3 445643 439492 6473866
43
Mycophenolic acid Approved Phase 2,Phase 1,Not Applicable 24280-93-1 446541
44
Mechlorethamine Approved, Investigational Phase 2 51-75-2 4033
45
Sirolimus Approved, Investigational Phase 1, Phase 2,Phase 2 53123-88-9 46835353 6436030 5284616
46
Everolimus Approved Phase 1, Phase 2 159351-69-6 6442177 70789204
47
Deferiprone Approved Phase 2 30652-11-0 2972
48
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
49
Prednisolone hemisuccinate Experimental Phase 2,Phase 1,Not Applicable 2920-86-7
50
Emodepside Investigational, Vet_approved Phase 2 155030-63-0

Interventional clinical trials:

(show top 50) (show all 53)
# 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 Stem Cell Transplant for Hemoglobinopathy Active, not recruiting NCT00176852 Phase 2, Phase 3 Busulfan, Fludarabine, ATG, TLI;Busulfan, Cyclophosphamide, ATG, GCSF;Campath, Fludarabine, Cyclophosphamide
5 A Study Assessing the Efficacy and Safety of Deferasirox in Patients With Transfusion-dependent Iron Overload Completed NCT00171821 Phase 3 Deferasirox
6 L-leucine in Diamond Blackfan Anemia Patients Unknown status NCT02386267 Phase 2 L-leucine
7 Study of Deferasirox in Iron Overload From Beta-thalassemia Unable to be Treated With Deferoxamine or Chronic Anemias Completed NCT00061763 Phase 2 Deferasirox
8 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
9 Safety and Efficacy Study of Sotatercept in Adults With Transfusion Dependent Diamond Blackfan Anemia Active, not recruiting NCT01464164 Phase 1, Phase 2 Sotatercept;Sotatercept with prednisone boost
10 Mobilization of Stem Cells With G-CSF for Collection From Patients With Diamond-Blackfan Anemia Completed NCT00011505 Phase 2 G-CSF
11 Rituximab to Treat Moderate Aplastic Anemia, Pure Red Cell Aplasia, or Diamond Blackfan Anemia Completed NCT00229619 Phase 2 Rituximab
12 Medical Treatment for Diamond Blackfan Anemia Completed NCT00001749 Phase 2 Antithymocyte globulin;Cyclosporine
13 A Study to Determine Whether Therapy With Daclizumab Will Benefit Patients With Bone Marrow Failure Terminated NCT00001962 Phase 2 Daclizumab
14 Allogeneic Bone Marrow Transplantation for the Treatment of Genetic Disorders of Erythropoiesis Completed NCT00578435 Phase 2
15 Allo-HCT MUD for Non-malignant Red Blood Cell (RBC) Disorders: Sickle Cell, Thal, and DBA: Reduced Intensity Conditioning, Co-tx MSCs Completed NCT00957931 Phase 2
16 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
17 Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells Completed NCT00730314 Phase 1, Phase 2
18 T-Cell Depleted Alternative Donor Bone Marrow Transplant for Sickle Cell Disease (SCD) and Other Anemias Recruiting NCT03653338 Phase 1, Phase 2 Hydroxyurea;Rituximab;Alemtuzumab;Fludarabine;Thiotepa
19 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
20 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 Remission Completed NCT00305708 Phase 1, Phase 2 busulfan;fludarabine phosphate
21 Conditioning Regimen for Allogeneic Hematopoietic Stem-Cell Transplantation Recruiting NCT03513328 Phase 1, Phase 2 Thiotepa--single daily dose;Thiotepa--escalated dose
22 Long Term Follow-up Study for Patients Enrolled on the BP-004 Clinical Study Enrolling by invitation NCT03733249 Phase 1, Phase 2 Rimiducid
23 Phase I/II Pilot Study of Mixed Chimerism to Treat Hemoglobinopathies Suspended NCT01419704 Phase 1, Phase 2
24 Safety Study of Gene Modified Donor T-cells Following TCR Alpha Beta Depleted Stem Cell Transplant Active, not recruiting NCT02065869 Phase 1, Phase 2 rimiducid
25 Fludarabine Phosphate, Cyclophosphamide, Total Body Irradiation, and Donor Stem Cell Transplant in Treating Patients With Blood Cancer Recruiting NCT03333486 Phase 2 Cyclophosphamide;Fludarabine Phosphate
26 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
27 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
28 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
29 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
30 Improving the Results of Bone Marrow Transplantation for Patients With Severe Congenital Anemias Recruiting NCT00061568 Phase 1, Phase 2 Alemtuzumab;Sirolimus
31 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2 Hydroxyurea;Alemtuzumab;Fludarabine;Melphalan;Thiotepa
32 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
33 Pilot Lenalidomide in Adult Diamond-Blackfan Anemia Patients w/ RBC Transfusion-Dependent Anemia Terminated NCT01034592 Phase 1 Lenalidomide
34 BMT Abatacept for Non-Malignant Diseases Active, not recruiting NCT01917708 Phase 1 Abatacept
35 Human Placental-Derived Stem Cell Transplantation Active, not recruiting NCT01586455 Phase 1 Human Placental Derived Stem Cell
36 Safety Study of Gene Modified Donor T Cell Infusion After Stem Cell Transplant for Non-Malignant Diseases Active, not recruiting NCT02231710 Phase 1
37 Reduced Intensity Conditioning for Umbilical Cord Blood Transplant in Pediatric Patients With Non-Malignant Disorders Completed NCT00744692 Phase 1 Reduced Intensity Conditioning
38 Multi-Center Study of Iron Overload: Pilot Study Unknown status NCT01114776
39 Multi-Center Study of Iron Overload: Survey Study (MCSIO) Unknown status NCT01913548
40 Diamond Blackfan Anemia Registry (DBAR) Recruiting NCT00106015
41 Cancer in Inherited Bone Marrow Failure Syndromes Recruiting NCT00027274
42 Partially Matched Stem Cell Transplantation for Patients With Refractory Severe Aplastic Anemia or Refractory Cytopenias Completed NCT00244010 Not Applicable
43 CD34+ (Non-Malignant) Stem Cell Selection for Patients Receiving Allogeneic Stem Cell Transplantation Recruiting NCT01966367 Early Phase 1
44 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
45 Alefacept and Allogeneic Hematopoietic Stem Cell Transplantation Terminated NCT01319851 Not Applicable Alefacept
46 Fludarabine Based RIC for Bone Marrow Failure Syndromes Recruiting NCT02928991 Early Phase 1
47 Hematopoietic Stem Cell Transplant for High Risk Hemoglobinopathies Recruiting NCT02179359 Not Applicable Reduced Toxicity Ablative Regimen;Reduced Intensity Preparative Regimen;Myeloablative Preparative Regimen
48 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
49 Investigation of the Genetics of Hematologic Diseases Recruiting NCT02720679
50 Bone Marrow and Kidney Transplant for Patients With Chronic Kidney Disease and Blood Disorders Recruiting NCT01758042 Not Applicable

Search NIH Clinical Center for Diamond-Blackfan Anemia 1

Genetic Tests for Diamond-Blackfan Anemia 1

Genetic tests related to Diamond-Blackfan Anemia 1:

# Genetic test Affiliating Genes
1 Aase Syndrome 30
2 Diamond-Blackfan Anemia 1 30 RPS19

Anatomical Context for Diamond-Blackfan Anemia 1

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

42
Bone, Bone Marrow, Heart, T Cells, Kidney, Liver, Myeloid

Publications for Diamond-Blackfan Anemia 1

Articles related to Diamond-Blackfan Anemia 1:

# Title Authors Year
1
Aase syndrome: novel radiographic features. ( 8465840 )
1993
2
The Aase syndrome. Case report and review of the literature. ( 3732321 )
1986
3
The Aase syndrome in a female infant. ( 745221 )
1978
4
A female patient with "Aase syndrome". ( 909014 )
1977

Variations for Diamond-Blackfan Anemia 1

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

76 (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
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

ClinVar genetic disease variations for Diamond-Blackfan Anemia 1:

6 (show all 25)
# Gene Variation Type Significance SNP ID Assembly Location
1 RPS19 NM_001022.3(RPS19): c.380G> A (p.Gly127Glu) single nucleotide variant Pathogenic rs786200936 GRCh37 Chromosome 19, 42373792: 42373792
2 RPS19 NM_001022.3(RPS19): c.380G> A (p.Gly127Glu) single nucleotide variant Pathogenic rs786200936 GRCh38 Chromosome 19, 41869722: 41869722
3 RPS19 NM_001022.3(RPS19): c.43G> T (p.Val15Phe) single nucleotide variant Pathogenic rs104894717 GRCh38 Chromosome 19, 41860817: 41860817
4 RPS19 NM_001022.3(RPS19): c.43G> T (p.Val15Phe) single nucleotide variant Pathogenic rs104894717 GRCh37 Chromosome 19, 42364887: 42364887
5 RPS19 RPS19, LEU45GLN AND 2-BP INS, 160CT insertion Pathogenic
6 RPS19 NM_001022.3(RPS19): c.307delG (p.Val103Serfs) deletion Pathogenic rs786200935 GRCh38 Chromosome 19, 41869165: 41869165
7 RPS19 NM_001022.3(RPS19): c.307delG (p.Val103Serfs) deletion Pathogenic rs786200935 GRCh37 Chromosome 19, 42373235: 42373235
8 RPS19 NM_001022.3(RPS19): c.250A> T (p.Arg84Ter) single nucleotide variant Pathogenic rs121908649 GRCh38 Chromosome 19, 41869108: 41869108
9 RPS19 NM_001022.3(RPS19): c.250A> T (p.Arg84Ter) single nucleotide variant Pathogenic rs121908649 GRCh37 Chromosome 19, 42373178: 42373178
10 RPS19 NM_001022.3(RPS19): c.98G> A (p.Trp33Ter) single nucleotide variant Pathogenic rs104894716 GRCh38 Chromosome 19, 41861138: 41861138
11 RPS19 NM_001022.3(RPS19): c.98G> A (p.Trp33Ter) single nucleotide variant Pathogenic rs104894716 GRCh37 Chromosome 19, 42365207: 42365207
12 RPS19 NM_001022.3(RPS19): c.184C> T (p.Arg62Trp) single nucleotide variant Pathogenic rs104894711 GRCh38 Chromosome 19, 41869042: 41869042
13 RPS19 NM_001022.3(RPS19): c.184C> T (p.Arg62Trp) single nucleotide variant Pathogenic rs104894711 GRCh37 Chromosome 19, 42373112: 42373112
14 RPS19 NM_001022.3(RPS19): c.280C> T (p.Arg94Ter) single nucleotide variant Pathogenic rs61762293 GRCh38 Chromosome 19, 41869138: 41869138
15 RPS19 NM_001022.3(RPS19): c.280C> T (p.Arg94Ter) single nucleotide variant Pathogenic rs61762293 GRCh37 Chromosome 19, 42373208: 42373208
16 RPS19 NM_001022.3(RPS19): c.367_368dup (p.Thr124Terfs) duplication Pathogenic GRCh37 Chromosome 19, 42373779: 42373780
17 RPS19 NM_001022.3(RPS19): c.367_368dup (p.Thr124Terfs) duplication Pathogenic GRCh38 Chromosome 19, 41869709: 41869710
18 RPL5 NM_000969.5(RPL5): c.169_172delAACA (p.Asn57Glufs) deletion Pathogenic GRCh37 Chromosome 1, 93299197: 93299200
19 RPL5 NM_000969.5(RPL5): c.169_172delAACA (p.Asn57Glufs) deletion Pathogenic GRCh38 Chromosome 1, 92833640: 92833643
20 RPS19 NM_001022.3(RPS19): c.356+3A> C single nucleotide variant Likely pathogenic rs1555841379 GRCh38 Chromosome 19, 41869217: 41869217
21 RPS19 NM_001022.3(RPS19): c.356+3A> C single nucleotide variant Likely pathogenic rs1555841379 GRCh37 Chromosome 19, 42373287: 42373287
22 RPS19 NC_000019.8: g.47056452_47061521del5070 deletion Pathogenic NCBI36 Chromosome 19, 47056452: 47061521
23 RPS19 NC_000019.8: g.47056452_47061521del5070 deletion Pathogenic GRCh37 Chromosome 19, 42364612: 42369681
24 RPS19 NM_001022.3(RPS19): c.164C> T (p.Thr55Met) single nucleotide variant Uncertain significance rs147508369 GRCh38 Chromosome 19, 41861204: 41861204
25 RPS19 NM_001022.3(RPS19): c.164C> T (p.Thr55Met) single nucleotide variant Uncertain significance rs147508369 GRCh37 Chromosome 19, 42365273: 42365273

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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.27 RPL5 RPS19

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 focal adhesion GO:0005925 8.96 RPL5 RPS19
2 ribosome GO:0005840 8.62 RPL5 RPS19

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

# Name GO ID Score Top Affiliating Genes
1 translation GO:0006412 9.32 RPL5 RPS19
2 rRNA processing GO:0006364 9.26 RPL5 RPS19
3 translational initiation GO:0006413 9.16 RPL5 RPS19
4 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay GO:0000184 8.96 RPL5 RPS19
5 SRP-dependent cotranslational protein targeting to membrane GO:0006614 8.62 RPL5 RPS19

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

# Name GO ID Score Top Affiliating Genes
1 structural constituent of ribosome GO:0003735 8.62 RPL5 RPS19

Sources for Diamond-Blackfan Anemia 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
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70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
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75 UMLS via Orphanet
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