PRCA
MCID: PRR002
MIFTS: 46

Pure Red-Cell Aplasia (PRCA)

Categories: Blood diseases, Bone diseases, Immune diseases, Rare diseases

Aliases & Classifications for Pure Red-Cell Aplasia

MalaCards integrated aliases for Pure Red-Cell Aplasia:

Name: Pure Red-Cell Aplasia 12 15 70
Pure Red Cell Aplasia 12 73 20 6
Primary Red Cell Aplasia 12
Red-Cell Aplasia, Pure 44
Red-Cell Aplasia Pure 54
Red Cell Hypoplasia 12
Prca 20

Classifications:



External Ids:

Disease Ontology 12 DOID:1340
MeSH 44 D012010
NCIt 50 C34974
SNOMED-CT 67 191252000
UMLS 70 C0034902

Summaries for Pure Red-Cell Aplasia

GARD : 20 Pure red cell aplasia (PRCA) is a rare condition that affects the bone marrow. Bone marrow contains stem cells which develop into the red blood cells that carry oxygen through the body, the white blood cells that fight infections, and the platelets that help with blood clotting. In people with PRCA, the bone marrow makes a reduced number of red blood cells (called anemia ). As a result, affected people may experience fatigue, lethargy, and pale skin. PRCA has many different causes. A rare congenital form of PRCA, called Diamond Blackfan syndrome, is an inherited condition that is also associated with other physical abnormalities. PRCA can also be due to certain medications, infections, pregnancy, renal failure, and conditions such as thymomas, autoimmune disease (such as systemic lupus erythematosus ), cancers of the blood, and solid tumors. In many cases, the cause of the condition is unknown (idiopathic). The treatment of PRCA aims to address the underlying cause of the condition and relieve the associated signs and symptoms.

MalaCards based summary : Pure Red-Cell Aplasia, also known as pure red cell aplasia, is related to acquired pure red cell aplasia and transient erythroblastopenia of childhood. An important gene associated with Pure Red-Cell Aplasia is RPS26 (Ribosomal Protein S26), and among its related pathways/superpathways are Cytokine Signaling in Immune system and PI3K-Akt signaling pathway. The drugs Tacrolimus and Sirolimus have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, bone and prostate.

Wikipedia : 73 Pure red cell aplasia (PRCA) or erythroblastopenia refers to a type of anemia affecting the precursors... more...

Related Diseases for Pure Red-Cell Aplasia

Diseases in the Pure Red-Cell Aplasia family:

Acquired Pure Red Cell Aplasia Primary Acquired Pure Red Cell Aplasia

Diseases related to Pure Red-Cell Aplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 479)
# Related Disease Score Top Affiliating Genes
1 acquired pure red cell aplasia 33.3 BCORL1 BCOR
2 transient erythroblastopenia of childhood 33.0 RPS19 EPO
3 diamond-blackfan anemia 31.6 RPS26 RPS19 RPS17 RPL35A EPO
4 t-cell large granular lymphocyte leukemia 31.2 STAT3 IL2RA IL2
5 hemolytic anemia 31.0 TF IL2RA IL2 IFNA1 EPO
6 exanthem 31.0 IL2 IFNA1 ALB
7 myasthenia gravis 31.0 IL2 HLA-DQB1 HLA-B
8 neutropenia 31.0 IL2 IFNA1 EPO ALB
9 hemosiderosis 30.9 TF EPO ALB
10 graft-versus-host disease 30.9 IL2 HLA-DRB1 HLA-DQB1 HLA-B HLA-A
11 myelodysplastic syndrome 30.9 STAT3 IL2 HLA-DRB1 HLA-A EPO ALB
12 viral hepatitis 30.8 IL2 IFNA1 HLA-DRB1 ALB
13 myelofibrosis 30.8 STAT3 IL2RA IFNA1 EPO
14 thyroiditis 30.8 IL2 IFNA1 HLA-DRB1
15 paroxysmal nocturnal hemoglobinuria 30.7 HLA-DRB1 HLA-A EPO
16 acute disseminated encephalomyelitis 30.6 HLA-DRB1 HLA-DQB1 HLA-B
17 thrombocytopenia 30.6 STAT3 IL2 IFNA1 HLA-B HLA-A EPO
18 kaposi sarcoma 30.6 STAT3 IFNA1 HLA-B HLA-A
19 autoimmune enteropathy 30.5 STAT3 IL2RA
20 hypereosinophilic syndrome 30.5 STAT3 IL2RA IL2 IFNA1
21 systemic lupus erythematosus 30.5 STAT3 IL2RA IL2 IFNA1 HLA-DRB1 HLA-DQB1
22 deficiency anemia 30.4 TF RPS26 RPS19 IFNA1 HLA-B EPO
23 chickenpox 30.4 IL2 IFNA1 ALB
24 juvenile rheumatoid arthritis 30.3 IL2RA IL2 HLA-DRB1 HLA-DQB1 ALB
25 autoimmune hepatitis 30.3 IFNA1 HLA-DRB1 HLA-DQB1 HLA-A ALB
26 b-cell expansion with nfkb and t-cell anergy 30.3 TRB IL2RA IL2
27 arthritis 30.3 STAT3 HLA-DRB1 HLA-DQB1 HLA-B ALB
28 leprosy 3 30.3 IL2 HLA-DRB1 HLA-B HLA-A ALB
29 herpes zoster 30.2 IL2 IFNA1 HLA-DRB1 HLA-B HLA-A
30 severe cutaneous adverse reaction 30.2 HLA-DRB1 HLA-DQB1 HLA-B HLA-A
31 measles 30.2 IL2RA IL2 IFNA1 HLA-DRB1 HLA-A
32 cholangitis 30.2 IL2 HLA-DRB1 HLA-B ALB
33 hepatitis b 30.2 STAT3 IFNA1 HLA-DRB1 ALB
34 mumps 30.2 IL2 IFNA1 HLA-DRB1 HLA-DQB1
35 adult t-cell leukemia 30.1 STAT3 IL2RA IL2 IFNA1
36 myositis 30.1 IL2 IFNA1 HLA-DRB1 HLA-B
37 acquired immunodeficiency syndrome 30.0 IL2RA IL2 IFNA1 HLA-B EPO ALB
38 crohn's disease 30.0 STAT3 IL2RA IL2 HLA-DRB1 ALB
39 leukemia, acute myeloid 30.0 STAT3 IL2 IFNA1 HLA-A EPO BCORL1
40 sarcoidosis 1 30.0 IL2RA IL2 HLA-DRB1 HLA-DQB1 HLA-A
41 rubella 30.0 IL2 HLA-DRB1 HLA-DQB1 HLA-B HLA-A
42 pulmonary tuberculosis 30.0 IL2RA IL2 HLA-DRB1 HLA-DQB1 ALB
43 sclerosing cholangitis 30.0 IL2 HLA-DRB1 HLA-DQB1 HLA-B ALB
44 liver cirrhosis 29.9 TF IL2 IFNA1 HLA-DRB1 ALB
45 immune deficiency disease 29.9 IL2RA IL2 IFNA1 HLA-DQB1 HLA-B HLA-A
46 porphyria cutanea tarda 29.9 TF HLA-B HLA-A EPO ALB
47 hemochromatosis, type 1 29.9 TF HLA-B HLA-A EPO ALB
48 celiac disease 1 29.7 STAT3 IL2RA IL2 HLA-DRB1 HLA-DQB1 HLA-B
49 macrocytic anemia 29.7 RPS26 RPS19 RPS17 RPL35A
50 autoimmune disease 29.7 STAT3 IL2RA IL2 IFNA1 HLA-DRB1 HLA-DQB1

Graphical network of the top 20 diseases related to Pure Red-Cell Aplasia:



Diseases related to Pure Red-Cell Aplasia

Symptoms & Phenotypes for Pure Red-Cell Aplasia

Drugs & Therapeutics for Pure Red-Cell Aplasia

Drugs for Pure Red-Cell Aplasia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 63)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tacrolimus Approved, Investigational Phase 4 104987-11-3 6473866 445643 439492
2
Sirolimus Approved, Investigational Phase 4 53123-88-9 6436030 5284616
3
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
4
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 6741
5
Prednisolone Approved, Vet_approved Phase 3 50-24-8 5755
6
Methylprednisolone hemisuccinate Approved Phase 3 2921-57-5
7
Prednisolone phosphate Approved, Vet_approved Phase 3 302-25-0
8
Miconazole Approved, Investigational, Vet_approved Phase 3 22916-47-8 4189
9
Clotrimazole Approved, Vet_approved Phase 3 23593-75-1 2812
10
Prednisolone acetate Approved, Vet_approved Phase 3 52-21-1
11
Mycophenolic acid Approved Phase 3 24280-93-1 446541
12
Prednisolone hemisuccinate Experimental Phase 3 2920-86-7
13 Epoetin alfa Phase 3 113427-24-0
14 Antibodies Phase 3
15 Immunoglobulins Phase 3
16 Alkylating Agents Phase 3
17 Immunosuppressive Agents Phase 3
18 Immunologic Factors Phase 3
19 Antirheumatic Agents Phase 3
20 Cyclosporins Phase 3
21 Methylprednisolone Acetate Phase 3
22 Anti-Infective Agents Phase 3
23 Dermatologic Agents Phase 3
24 Calcineurin Inhibitors Phase 3
25 Antifungal Agents Phase 3
26 Antibiotics, Antitubercular Phase 3
27 Anti-Bacterial Agents Phase 3
28 Antitubercular Agents Phase 3
29
tannic acid Approved Phase 2 1401-55-4
30
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
31
Lenograstim Approved, Investigational Phase 2 135968-09-1
32
Sargramostim Approved, Investigational Phase 2 123774-72-1, 83869-56-1
33
Prednisone Approved, Vet_approved Phase 1, Phase 2 53-03-2 5865
34
alemtuzumab Approved, Investigational Phase 2 216503-57-0
35
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 2 1177-87-3
36
Dexamethasone Approved, Investigational, Vet_approved Phase 2 50-02-2 5743
37
Bortezomib Approved, Investigational Phase 2 179324-69-7 93860 387447
38
Dopamine Approved Phase 1, Phase 2 62-31-7, 51-61-6 681
39
Trifluoperazine Approved, Investigational Phase 1, Phase 2 117-89-5 5566
40
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
41
Leuprolide Approved, Investigational Phase 2 53714-56-0 3911 657181
42
rituximab Approved Phase 2 174722-31-7 10201696
43
Daclizumab Investigational, Withdrawn Phase 2 152923-56-3
44 Gastrointestinal Agents Phase 2
45 glucocorticoids Phase 1, Phase 2
46 Hormone Antagonists Phase 1, Phase 2
47 Antineoplastic Agents, Hormonal Phase 1, Phase 2
48 Hormones Phase 1, Phase 2
49 Antiemetics Phase 2
50 Anti-Inflammatory Agents Phase 1, Phase 2

Interventional clinical trials:

(show all 28)
# Name Status NCT ID Phase Drugs
1 Sirolimus Treatment for Refractory Pure Red Cell Aplasia, a Prospective Study Unknown status NCT03364764 Phase 4 Sirolimus
2 Tacrolimus Treatment for Refractory Pure Red Cell Aplasia, a Prospective Study Unknown status NCT03540472 Phase 4 tacrolimus
3 Research of Pure Red Cell Aplasia in Patients With Chronic Kidney Disease and in Use of Epoetin Alfa Produced by Immunobiological Technology Institute (Bio-Manguinhos) From Oswaldo Cruz Foundation (Bio-Manguinhos / Fiocruz) Unknown status NCT02648126 Phase 4
4 Tacrolimus Treatment for Refractory Autoimmune Cytopenia Recruiting NCT03918265 Phase 4 Tacrolimus
5 Sirolimus Treatment for Newly Diagnosed Primary Acquired Pure Red Cell Aplasia: a Single Center Prospective Study Not yet recruiting NCT04470804 Phase 4 Sirolimus;Cyclosporine A
6 Randomized Controlled Trial Study of Anti-r-HuEpo Associated PRCA Treated by Cyclosporine and Mycophenolate Mofetil (MMF) Compared With Cyclophosphamide and Prednisolone Terminated NCT01288131 Phase 3 Cyclosporine combine with mycophenolate mofetil;Cyclophosphamide + pred
7 An Open-Label Study to Investigate the Efficacy and Safety of AF37702 Injection in the Treatment of Anemia Caused by Antibody-Mediated Pure Red Cell Aplasia in Patients With Chronic Kidney Disease Completed NCT00314795 Phase 2 Peginesatide
8 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
9 Allogeneic Mixed Chimerism Stem Cell Transplantation Utilizing In Vivo and In Vitro Campath for Hemoglobinopathies and Bone Marrow Failure Syndromes Completed NCT00004143 Phase 2 Campath, Chemo and/or TBI Allo SCT
10 A Phase II Pilot Study of Nonmyeloablative Conditioning Hematopoietic Stem Cell Transplantation in Children With Sickle Cell Disease Who Have a Matched Related Major ABO-Incompatible Donor (Sickle-MAID) Recruiting NCT03214354 Phase 2 Alemtuzumab;Sirolimus
11 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
12 Safety and Efficacy of Bortezomib Plus Dexamethasone for Acquired Pure Red Cell Aplasia Failure or Relapse After First-line Treatment: A Prospective Phase II Trial Recruiting NCT04423367 Phase 2 bortezomib/dexamethasone
13 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
14 A Phase II Trial of Haploidentical Allogeneic Stem Cell Transplantation Utilizing Mobilized Peripheral Blood Stem Cells Recruiting NCT03333486 Phase 2 Cyclophosphamide;Fludarabine Phosphate
15 A Randomized Phase II Trial Investigating Stereotactic Body RadioTherapy (SBRT) for Prostate Boost Irradiation in the Treatment of High Risk Prostate Cancer (PrCa) Recruiting NCT03380806 Phase 2 LHRH agonist
16 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
17 Ibrutinib in Steroid Refractory Autoimmune Hemolytic Anemia: ELaboration of Treatment Approach Active, not recruiting NCT03827603 Phase 2 Ibrutinib
18 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
19 Autologous Peripheral Blood Stem Cell Transplantation in Patients With Life Threatening Autoimmune Diseases Unknown status NCT00006055 anti-thymocyte globulin;cyclophosphamide;cyclosporine;filgrastim;methylprednisolone;prednisone
20 Screening Protocol and Longitudinal Study of Bone Marrow Failure Syndromes and Cytopenias Unknown status NCT00315419
21 Stem Cell Transplantation (SCT) for Genetic Diseases Completed NCT00004378
22 Study of Allogeneic Bone Marrow Transplantation Using Matched, Related Donors in Patients With Nonmalignant Hematologic Disorders Completed NCT00005893 anti-thymocyte globulin;busulfan;cyclophosphamide
23 An Active Safety Surveillance Plan to Conduct Serologic Testing for Anti-erythropoietin Antibodies and Prospectively Monitor the Incidence of Pure Red Cell Aplasia (PRCA) Among Patients Receiving Epoetin Alfa or Another Erythropoietin Completed NCT00210951
24 An Active Safety Surveillance Plan to Prospectively Monitor the Incidence of Pure Red Cell Aplasia (PRCA) Among Patients Receiving Epoetin Alfa Therapy or Other Recombinant Erythropoietins Completed NCT00211029
25 A Prospective, Immunogenicity Surveillance Registry (PRIMS) to Estimate the Incidence of Erythropoietin Antibody-Mediated Pure Red Cell Aplasia Among Subjects With Chronic Renal Failure and Subcutaneous Exposure to Recombinant Erythropoietin Products Completed NCT00391287
26 Observational, Multicenter Study of Subjects With Pure Red Cell Aplasia Associated With r-HuEPO Treatment Completed NCT00211042
27 Retrospective Case-control Study of Risk Factors for Anti-erythropoietin Antibody Positive Pure Red Cell Aplasia Among Patients With Chronic Kidney Disease Receiving Epoetin Alfa Completed NCT00211068 No intervention
28 Umbilical Cord Blood Treatment for Refractory Immune Cytopenia: a Single-arm Prospective Study Recruiting NCT04420494

Search NIH Clinical Center for Pure Red-Cell Aplasia

Inferred drug relations via UMLS 70 / NDF-RT 51 :


Cyclophosphamide

Cochrane evidence based reviews: red-cell aplasia, pure

Genetic Tests for Pure Red-Cell Aplasia

Anatomical Context for Pure Red-Cell Aplasia

MalaCards organs/tissues related to Pure Red-Cell Aplasia:

40
Bone Marrow, Bone, Prostate, Myeloid, T Cells, Thymus, Pancreas

Publications for Pure Red-Cell Aplasia

Articles related to Pure Red-Cell Aplasia:

(show top 50) (show all 1793)
# Title Authors PMID Year
1
Whole-genome sequencing of patients with rare diseases in a national health system. 6
32581362 2020
2
Application of a bridging ELISA for detection of anti-erythropoietin binding antibodies and a cell-based bioassay for neutralizing antibodies in human sera. 54 61
20133098 2010
3
Case-control study of the association between select HLA genes and anti-erythropoietin antibody-positive pure red-cell aplasia. 61 54
18370845 2008
4
Pure red-cell aplasia "epidemic"--mystery completely revealed? 54 61
17556324 2007
5
Epoetin and pure red-cell aplasia. 54 61
15689594 2005
6
Pure red-cell aplasia caused by the antibody to recombinant erythropoietin, epoetin-beta, in a Japanese patient with chronic renal failure. 54 61
15609276 2005
7
[Epoetin-induced pure red-cell aplasia]. 61 54
15636479 2004
8
Pure red-cell aplasia in a peritoneal dialysis patient with HCV-related cryoglobulinemia in the absence of neutralizing antierythropoietin antibodies. 61 54
15593045 2004
9
Pure red-cell aplasia and epoetin therapy. 61 54
15459301 2004
10
High prevalence in Switzerland of pure red-cell aplasia due to anti-erythropoietin antibodies in chronic dialysis patients: report of five cases. 61 54
15252171 2004
11
Two haemodialysis patients with epoetin alfa-induced pure red-cell aplasia recovered despite treatment with another epoetin preparation. 61 54
15102972 2004
12
Pure red-cell aplasia induced by anti-erythropoietin antibodies in peritoneal dialysis. 61 54
14989637 2004
13
Recovery of pure red-cell aplasia secondary to antierythropoietin antibodies after cessation of recombinant human erythropoietin. 61 54
14511202 2003
14
[Pure red cell aplasia developed during treatment with erythropoietin. Complete remission during immunosuppressive therapy]. 54 61
12795077 2003
15
[Pure red cell aplasia in erythropoietin therapy in patients with kidney failure]. 61 54
14746223 2003
16
Pure red-cell aplasia and recombinant erythropoietin. 61 54
12017159 2002
17
Pure red-cell aplasia and recombinant erythropoietin. 61 54
12015400 2002
18
Pure red-cell aplasia and antierythropoietin antibodies in patients treated with recombinant erythropoietin. 54 61
11844847 2002
19
Autoantibodies against erythropoietin in a patient with pure red-cell aplasia. 61 54
8592526 1996
20
Daratumumab for pure red cell aplasia post ABO incompatible allogeneic hematopoietic stem cell transplant for aplastic anemia. 61
32653327 2021
21
Atezolizumab-induced pure red cell aplasia. 61
33583015 2021
22
How I manage acquired pure red cell aplasia in adults. 61
33657207 2021
23
Human parvovirus B19-associated early postoperative acquired pure red cell aplasia in simultaneous pancreas-kidney transplantation: A case report. 61
33748248 2021
24
Expanding spectrum of DADA2: a review of phenotypes, genetics, pathogenesis and treatment. 61
33791889 2021
25
Eltrombopag Improves Erythroid Differentiation in a Human Induced Pluripotent Stem Cell Model of Diamond Blackfan Anemia. 61
33810313 2021
26
Therapeutic drug monitoring of intravenous busulfan in Thai children undergoing hematopoietic stem cell transplantation: A pilot study. 61
33656974 2021
27
Autoimmune Complications in Hematologic Neoplasms. 61
33810369 2021
28
Coincidence of autoimmune hemolytic anemia and pure red cell aplasia in a patient with CLL. 61
32548659 2021
29
A case of recurrent anemia due to chronic parvovirus B19 infection in a kidney transplant recipient. Can everolimus make a difference? 61
33539009 2021
30
Eltrombopag restores erythropoiesis in refractory adult acquired pure red cell aplasia. 61
33611753 2021
31
Remarkable response to roxadustat in a case of anti-erythropoietin antibody-mediated pure red cell aplasia. 61
32940725 2021
32
Daratumumab for delayed RBC engraftment following major ABO mismatched haploidentical bone marrow transplantation. 61
33528026 2021
33
[Treatment-refractory anaemia in a 35-year-old heart transplant recipient on chronic hemodialysis]. 61
33580307 2021
34
Development of pure red cell aplasia by transmission and persistent infection of parvovirus B19 through a kidney allograft. 61
32897628 2021
35
Correction to: Remarkable response to roxadustat in a case of anti-erythropoietin antibody-mediated pure red cell aplasia. 61
33063127 2021
36
Dysregulation in B-cell responses and T follicular helper cell function in ADA2 deficiency patients. 61
32707604 2021
37
[Expression of iron-regulating erythroid factors in different types of erythropoiesis disorders]. 61
33677869 2021
38
Postnatal IVIG treatment for persistent anaemia in neonate due to congenital parvovirus infection. 61
33431449 2021
39
Thymic Hyperplasia with Lymphoepithelial Sialadenitis (LESA)-Like Features: Strong Association with Lymphomas and Non-Myasthenic Autoimmune Diseases. 61
33467055 2021
40
Clonal hematopoiesis in adult pure red cell aplasia. 61
33500526 2021
41
Acquired pure red cell aplasia and T cell large granular lymphocytic leukaemia in patients with autoimmune polyglandular syndrome type 1. 61
33468135 2021
42
Peripheral blood T lymphocytosis in thymoma: an insight into immunobiology. 61
33164149 2021
43
ABO incompatibile graft management in pediatric transplantation. 61
32594103 2021
44
Modified recombinant human erythropoietin with potentially reduced immunogenicity. 61
33452310 2021
45
A Rare Presentation of Parvovirus Induced Pure Red Cell Aplasia in Elderly Male With Inclusion Body Myositis. 61
33489512 2020
46
Aberrant splicing due to a novel RPS7 variant causes Diamond-Blackfan Anemia associated with spontaneous remission and meningocele. 61
32772263 2020
47
Pediatric Pure Red Cell Aplasia Caused by Tacrolimus After Living-Donor Liver Transplant. 61
31724928 2020
48
Pure Red Cell Aplasia in IgG4-Related Disease: Successful Treatment With Cyclosporine. 61
33323754 2020
49
Pure red-cell aplasia secondary to pregnancy: Case report and review of the literature. 61
33515443 2020
50
Use of anti-thymocyte globulin (ATG) for the treatment of pure red cell aplasia and immune-mediated cytopenias after allogeneic hematopoietic cell transplantation: a case series. 61
32424188 2020

Variations for Pure Red-Cell Aplasia

ClinVar genetic disease variations for Pure Red-Cell Aplasia:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RPS26 NM_001029.5(RPS26):c.312+2T>A SNV Likely pathogenic 812897 rs1593023809 GRCh37: 12:56437279-56437279
GRCh38: 12:56043495-56043495

Expression for Pure Red-Cell Aplasia

Search GEO for disease gene expression data for Pure Red-Cell Aplasia.

Pathways for Pure Red-Cell Aplasia

Pathways related to Pure Red-Cell Aplasia according to GeneCards Suite gene sharing:

(show all 23)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.19 STAT3 IL2RA IL2 IFNA1 HLA-DRB1 HLA-DQB1
2
Show member pathways
12.87 IL2RA IL2 IFNA1 HLA-B HLA-A EPO
3 12.73 STAT3 IL2RA IL2 IFNA1 EPO
4 12.69 IFNA1 HLA-DRB1 HLA-DQB1 HLA-B HLA-A
5
Show member pathways
12.61 IL2RA IL2 IFNA1 HLA-DRB1 HLA-DQB1 HLA-B
6
Show member pathways
12.52 TRB IL2RA IL2 HLA-DRB1 HLA-DQB1
7
Show member pathways
12.39 IL2 IFNA1 HLA-B HLA-A
8
Show member pathways
12.38 IFNA1 HLA-DRB1 HLA-DQB1 HLA-B HLA-A
9
Show member pathways
12.38 TRB STAT3 IL2RA IL2 HLA-DRB1 HLA-DQB1
10
Show member pathways
12.28 IL2RA IL2 HLA-DRB1 HLA-DQB1
11
Show member pathways
12.27 STAT3 IL2RA IL2 IFNA1 HLA-DRB1 HLA-DQB1
12
Show member pathways
12.23 STAT3 IL2RA IL2 IFNA1 EPO
13
Show member pathways
12.13 IL2RA IL2 IFNA1 HLA-B HLA-A
14 12.07 IL2RA IL2 HLA-DRB1 HLA-DQB1 HLA-B HLA-A
15 12.03 HLA-DRB1 HLA-DQB1 HLA-B HLA-A
16 12.01 HLA-DRB1 HLA-DQB1 HLA-B HLA-A
17 11.7 IL2RA HLA-DRB1 HLA-DQB1 EPO
18
Show member pathways
11.65 TRB HLA-DRB1 HLA-DQB1
19 11.62 STAT3 IL2RA IL2
20
Show member pathways
11.54 IL2RA IL2 HLA-A
21
Show member pathways
11.15 TRB STAT3 IL2RA IL2 HLA-DRB1 HLA-A
22 11.1 TRB IL2 HLA-DRB1
23 10.9 STAT3 IL2RA IL2 HLA-DRB1

GO Terms for Pure Red-Cell Aplasia

Cellular components related to Pure Red-Cell Aplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 9.63 TF IL2RA HLA-DRB1 HLA-B HLA-A EPO
2 ribosome GO:0005840 9.62 RPS26 RPS19 RPS17 RPL35A
3 cytosolic small ribosomal subunit GO:0022627 9.43 RPS26 RPS19 RPS17
4 MHC class I protein complex GO:0042612 9.37 HLA-B HLA-A
5 ER to Golgi transport vesicle membrane GO:0012507 9.26 HLA-DRB1 HLA-DQB1 HLA-B HLA-A
6 integral component of lumenal side of endoplasmic reticulum membrane GO:0071556 8.92 HLA-DRB1 HLA-DQB1 HLA-B HLA-A

Biological processes related to Pure Red-Cell Aplasia according to GeneCards Suite gene sharing:

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 immune system process GO:0002376 10.07 IL2RA IL2 HLA-DRB1 HLA-DQB1 HLA-B HLA-A
2 cytokine-mediated signaling pathway GO:0019221 9.92 STAT3 IL2RA IL2 IFNA1
3 immune response GO:0006955 9.91 IL2RA IL2 HLA-DRB1 HLA-DQB1 HLA-B HLA-A
4 translational initiation GO:0006413 9.84 RPS26 RPS19 RPS17 RPL35A
5 adaptive immune response GO:0002250 9.8 IL2 IFNA1 HLA-DRB1 HLA-DQB1 HLA-B HLA-A
6 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay GO:0000184 9.78 RPS26 RPS19 RPS17 RPL35A
7 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.77 STAT3 IL2 EPO
8 type I interferon signaling pathway GO:0060337 9.76 IFNA1 HLA-B HLA-A
9 viral transcription GO:0019083 9.76 RPS26 RPS19 RPS17 RPL35A
10 regulation of regulatory T cell differentiation GO:0045589 9.63 IL2RA IL2
11 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II GO:0002504 9.62 HLA-DRB1 HLA-DQB1
12 interleukin-2-mediated signaling pathway GO:0038110 9.61 IL2RA IL2
13 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent GO:0002480 9.61 HLA-B HLA-A
14 antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independent GO:0002486 9.58 HLA-B HLA-A
15 positive regulation of activated T cell proliferation GO:0042104 9.58 IL2RA IL2 EPO
16 negative regulation of lymphocyte proliferation GO:0050672 9.57 IL2RA IL2
17 protection from natural killer cell mediated cytotoxicity GO:0042270 9.56 HLA-B HLA-A
18 SRP-dependent cotranslational protein targeting to membrane GO:0006614 9.56 RPS26 RPS19 RPS17 RPL35A
19 humoral immune response mediated by circulating immunoglobulin GO:0002455 9.55 HLA-DRB1 HLA-DQB1
20 positive regulation of T cell mediated cytotoxicity GO:0001916 9.54 HLA-DRB1 HLA-B HLA-A
21 regulation of T cell homeostatic proliferation GO:0046013 9.52 IL2RA IL2
22 T cell mediated cytotoxicity directed against tumor cell target GO:0002419 9.51 TRB HLA-A
23 immunoglobulin production involved in immunoglobulin mediated immune response GO:0002381 9.49 HLA-DRB1 HLA-DQB1
24 interferon-gamma-mediated signaling pathway GO:0060333 9.46 HLA-DRB1 HLA-DQB1 HLA-B HLA-A
25 detection of bacterium GO:0016045 9.13 HLA-DRB1 HLA-B HLA-A
26 antigen processing and presentation GO:0019882 8.92 HLA-DRB1 HLA-DQB1 HLA-B HLA-A

Molecular functions related to Pure Red-Cell Aplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural constituent of ribosome GO:0003735 9.46 RPS26 RPS19 RPS17 RPL35A
2 T cell receptor binding GO:0042608 9.32 HLA-DRB1 HLA-A
3 MHC class II receptor activity GO:0032395 9.26 HLA-DRB1 HLA-DQB1
4 TAP binding GO:0046977 8.96 HLA-B HLA-A
5 peptide antigen binding GO:0042605 8.92 HLA-DRB1 HLA-DQB1 HLA-B HLA-A

Sources for Pure Red-Cell Aplasia

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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