Retinitis Pigmentosa and Erythrocytic Microcytosis (RPEM)

Categories: Blood diseases, Genetic diseases

Aliases & Classifications for Retinitis Pigmentosa and Erythrocytic Microcytosis

MalaCards integrated aliases for Retinitis Pigmentosa and Erythrocytic Microcytosis:

Name: Retinitis Pigmentosa and Erythrocytic Microcytosis 56 73 29 6
Rpem 56 73
Hematological Disease 71
Hematologic Diseases 43
Hematologic Disease 17



autosomal recessive

based on report of 3 patients (last curated may 2016)
one patient had rheumatoid arthritis and recurrent fevers in childhood


retinitis pigmentosa and erythrocytic microcytosis:
Inheritance autosomal recessive inheritance


Summaries for Retinitis Pigmentosa and Erythrocytic Microcytosis

UniProtKB/Swiss-Prot : 73 Retinitis pigmentosa and erythrocytic microcytosis: An autosomal recessive disease characterized by retinitis pigmentosa, red blood cell microcytosis and anisocytosis with mild anemia.

MalaCards based summary : Retinitis Pigmentosa and Erythrocytic Microcytosis, also known as rpem, is related to polycythemia vera and splenomegaly, and has symptoms including edema, chest pain and angina pectoris. An important gene associated with Retinitis Pigmentosa and Erythrocytic Microcytosis is TRNT1 (TRNA Nucleotidyl Transferase 1), and among its related pathways/superpathways are PI3K-Akt signaling pathway and Pathways in cancer. The drugs Vancomycin and Tazobactam have been mentioned in the context of this disorder. Affiliated tissues include t cells, bone and myeloid, and related phenotypes are photoreceptor layer loss on macular oct and anemia

More information from OMIM: 616959

Related Diseases for Retinitis Pigmentosa and Erythrocytic Microcytosis

Diseases related to Retinitis Pigmentosa and Erythrocytic Microcytosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 392)
# Related Disease Score Top Affiliating Genes
1 polycythemia vera 30.4 JAK2 IL3 EPO CSF3
2 splenomegaly 30.2 JAK2 EPO
3 granulocytopenia 29.9 IL3 CSF3
4 neutropenia 29.6 IL3 EPO CSF3
5 miliary tuberculosis 29.6 EPO CSF3
6 paroxysmal nocturnal hemoglobinuria 29.6 PIGA CSF3
7 hypersplenism 29.5 EPO CSF3
8 sickle cell anemia 29.5 EPO CSF3
9 myeloid leukemia 29.4 JAK2 IL3 CSF3
10 lymphoma, hodgkin, classic 29.3 JAK2 IL3 CSF3
11 mucositis 29.3 IL3 CSF3
12 acquired polycythemia 29.2 JAK2 EPO
13 felty syndrome 29.2 IL3 CSF3
14 aplastic anemia 29.2 PIGA IL3 EPO CSF3
15 polycythemia 29.1 JAK2 IL3 EPO
16 hemoglobinuria 29.1 PIGA EPO CSF3
17 lymphoma, non-hodgkin, familial 29.1 JAK2 IL3 CSF3
18 cyclic neutropenia 29.1 IL3 CSF3
19 leukemia, acute lymphoblastic 29.1 JAK2 IL3 CSF3
20 hemolytic anemia 29.0 PIGA IL3 EPO CSF3
21 acute leukemia 29.0 JAK2 IL3 EPO CSF3
22 beta-thalassemia 28.9 JAK2 IL3 EPO
23 pulmonary edema 28.9 EPO CSF3
24 gastroenteritis 28.9 IL3 CSF3
25 refractory anemia 28.9 IL3 EPO CSF3
26 congenital hemolytic anemia 28.9 IL3 EPO
27 thrombocytopenia 28.8 JAK2 IL3 EPO CSF3
28 myeloma, multiple 28.8 JAK2 IL3 EPO CSF3
29 pancytopenia 28.8 IL3 EPO CSF3
30 leukemia, chronic myeloid 28.8 JAK2 IL3 EPO CSF3
31 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 28.8 IL3 EPO CSF3
32 mastocytosis 28.8 JAK2 IL3
33 leukemia, acute myeloid 28.7 JAK2 IL3 EPO CSF3
34 myelofibrosis 28.6 JAK2 IL3 EPO CSF3
35 myelodysplastic syndrome 28.6 PIGA JAK2 IL3 EPO CSF3
36 myeloproliferative neoplasm 28.4 JAK2 IL3 EPO CSF3
37 megakaryocytic leukemia 28.4 JAK2 IL3
38 diamond-blackfan anemia 28.4 JAK2 IL3 EPO
39 thrombocytosis 28.4 JAK2 IL3 EPO CSF3
40 primary polycythemia 28.4 JAK2 IL3 EPO
41 hematologic cancer 28.2 JAK2 IL3 CSF3
42 essential thrombocythemia 28.1 JAK2 IL3 EPO CSF3
43 blood coagulation disease 27.8 JAK2 IL3 EPO CSF3
44 rare genetic hematologic disease 12.2
45 hematological disease associated with an acquired peripheral neuropathy 12.2
46 trnt1 deficiency 12.0
47 anemia, hypochromic microcytic, with iron overload 1 11.0
48 atransferrinemia 11.0
49 methemoglobinemia due to deficiency of methemoglobin reductase 11.0
50 thrombotic thrombocytopenic purpura, hereditary 11.0

Comorbidity relations with Retinitis Pigmentosa and Erythrocytic Microcytosis via Phenotypic Disease Network (PDN): (show all 16)

Active Peptic Ulcer Disease Acute Cystitis
Bronchitis Decubitus Ulcer
Deficiency Anemia Heart Disease
Hypertension, Essential Hypothyroidism
Iron Deficiency Anemia Neutropenia
Osteoporosis Peripheral Vascular Disease
Primary Polycythemia Primary Thrombocytopenia
Protein-Energy Malnutrition Schizophreniform Disorder

Graphical network of the top 20 diseases related to Retinitis Pigmentosa and Erythrocytic Microcytosis:

Diseases related to Retinitis Pigmentosa and Erythrocytic Microcytosis

Symptoms & Phenotypes for Retinitis Pigmentosa and Erythrocytic Microcytosis

Human phenotypes related to Retinitis Pigmentosa and Erythrocytic Microcytosis:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 photoreceptor layer loss on macular oct 31 very rare (1%) HP:0030609
2 anemia 31 HP:0001903
3 myopia 31 HP:0000545
4 pallor 31 HP:0000980
5 nyctalopia 31 HP:0000662
6 optic disc pallor 31 HP:0000543
7 decreased serum iron 31 HP:0040303
8 elliptocytosis 31 HP:0004445
9 retinal pigment epithelial atrophy 31 HP:0007722
10 epiretinal membrane 31 HP:0100014
11 decreased mean corpuscular volume 31 HP:0025066
12 anisocytosis 31 HP:0011273
13 ring scotoma 31 HP:0030529

Symptoms via clinical synopsis from OMIM:

near- to low-normal hemoglobin
Head And Neck Eyes:
mild optic disc pallor
significant macular edema (in some patients)
mild arteriolar attenuation
diffuse atrophy of peripheral retinal pigment epithelium
scant bone spicule-like pigmentary changes in periphery (in 1 patient)

Clinical features from OMIM:


UMLS symptoms related to Retinitis Pigmentosa and Erythrocytic Microcytosis:

edema, chest pain, angina pectoris, signs and symptoms of ill-defined conditions

Drugs & Therapeutics for Retinitis Pigmentosa and Erythrocytic Microcytosis

Drugs for Retinitis Pigmentosa and Erythrocytic Microcytosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 393)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Vancomycin Approved Phase 4 1404-90-6 14969 441141
Tazobactam Approved Phase 4 89786-04-9 123630
Ceftazidime Approved Phase 4 72558-82-8, 78439-06-2 5481173
Piperacillin Approved Phase 4 66258-76-2 43672
Oseltamivir Approved Phase 4 204255-11-8, 196618-13-0 65028
Idarubicin Approved Phase 4 58957-92-9 42890
Heparin Approved, Investigational Phase 4 9005-49-6 46507594 772
Mercaptopurine Approved Phase 4 50-44-2 667490
Azacitidine Approved, Investigational Phase 4 320-67-2 9444
Metformin Approved Phase 4 657-24-9 14219 4091
Exenatide Approved, Investigational Phase 4 141758-74-9 15991534
Peginterferon alfa-2b Approved Phase 4 99210-65-8, 215647-85-1
Ethanol Approved Phase 4 64-17-5 702
Meropenem Approved, Investigational Phase 4 96036-03-2, 119478-56-7 441130 64778
Cilastatin Approved, Investigational Phase 4 82009-34-5 5280454 6435415
Imipenem Approved Phase 4 74431-23-5, 64221-86-9 104838
Entecavir Approved, Investigational Phase 4 142217-69-4 153941
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
Thrombin Approved, Investigational Phase 4
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
Foscarnet Approved Phase 4 4428-95-9, 63585-09-1 3415
Ganciclovir Approved, Investigational Phase 4 82410-32-0 3454
Ketorolac Approved Phase 4 66635-83-4, 74103-06-3 3826
Ibuprofen Approved Phase 4 15687-27-1 3672
Tretinoin Approved, Investigational, Nutraceutical Phase 4 302-79-4 444795 5538
Adefovir Investigational Phase 4 106941-25-7
Tenofovir Experimental, Investigational Phase 4 147127-20-6 464205
Phosphonoacetic Acid Experimental Phase 4 4408-78-0 546
29 penicillins Phase 4
30 Piperacillin, Tazobactam Drug Combination Phase 4
31 Lactams Phase 4
32 beta-Lactamase Inhibitors Phase 4
33 Coagulants Phase 4
protease inhibitors Phase 4
35 HIV Protease Inhibitors Phase 4
36 Anti-HIV Agents Phase 4
37 Hemostatics Phase 4
38 Trace Elements Phase 4
39 Micronutrients Phase 4
40 Vitamins Phase 4
41 Nutrients Phase 4
42 interferons Phase 4
43 Anti-Infective Agents, Local Phase 4
44 calcium heparin Phase 4
45 Hypoglycemic Agents Phase 4
46 Anti-Obesity Agents Phase 4
47 Incretins Phase 4
48 Interferon-alpha Phase 4
49 Interferon alpha-2 Phase 4
50 Cilastatin, Imipenem Drug Combination Phase 4

Interventional clinical trials:

(show top 50) (show all 479)
# Name Status NCT ID Phase Drugs
1 Prospective Unblinded Randomized Trial to Examine Short vs Prolonged Antibiotic Treatment for Hospitalized Hemato-oncology Patients With Febrile Neutropenia Unknown status NCT02463747 Phase 4 Piperacillin/tazobactam;Ceftazidim;Meropenem;Vancomycin
2 Banlangen Granules Anti-seasonal Influenza Study: a Randomized, Double Blind, Positive and Placebo Controlled,Clinical Study. Unknown status NCT02232945 Phase 4 placebo of oseltamivir phosphate;oseltamivir phosphate;Banlangen (Radix Isatidis) granules;placebo of Banlangen(Radix Isatidis) granules
3 A Prospective Controlled Study on the Effect on Bleeding Events and Joint Function in Young Adults With Severe Hemophilia A After a 6 Month Prophylaxis Treatment Compared to on Demand Treatment Completed NCT00586521 Phase 4 Kogenate (BAY14-2222)
4 Early Application of CPAP in Hematologic Neutropenic Patients Avoid Acute Respiratory Failure Completed NCT00507533 Phase 4
5 Study of Safety and Efficacy of Antihemophilic Factor/Von Willebrand Factor Complex (Humate-P®) Using Individualized Dosing in Pediatric and Adult Surgical Subjects With Von Willebrand's Disease. Completed NCT00168090 Phase 4 Blood coagulation Factor VIII and vWF, human
6 Value of the LightCycler® SeptiFast Test MGRADE for the Pathogen Detection in Neutropenic Hematological Patients Completed NCT01114165 Phase 4
7 Locking of Totally Implanted Venous Access Devices and Tunneled Catheters With or Without Heparin: a Randomised Open-labeled Controlled Trial Completed NCT00994136 Phase 4 normal saline
8 Beijing Chao-Yang Hospital, Capital Medical University Completed NCT03297879 Phase 4 Exenatide or metformin hydrochloride
9 A Single-arm Study of Brentuximab Vedotin in Patients With Relapsed or Refractory Hodgkin Lymphoma Who Are Not Suitable for Stem Cell Transplantation or Multiagent Chemotherapy Completed NCT01990534 Phase 4 Brentuximab vedotin
10 Short Versus Extended Antibiotic Treatment With a Carbapenem for High-risk Febrile Neutropenia in Hematology Patients With Fever of Unknown Origin: a Randomized Multicenter Non-inferiority Trial. Completed NCT02149329 Phase 4 Discontinuation of imipenem-cilastatin or meropenem
11 A Phase 4, Open-Label, Single-Arm Study to Evaluate the Efficacy, Safety, and Pharmacokinetics of Subcutaneous Azacitidine in Adult Taiwanese Subjects With Higher-Risk Myelodysplastic Syndromes. Completed NCT01201811 Phase 4 Azacitidine
12 Treatment of Acute Promyelocytic Leukemia: Remission Induction With ATRA + Idarubicin (AIDA) Risk Adapted Intensity of Consolidation and Addition of ATRA Maintenance With ATRA + Methotrexate + Mercaptopurine Salvage Therapy for Molecular and Haematological Relapses Completed NCT00465933 Phase 4 AIDA
13 Preemptive Ethanol Lock Therapy in Pediatric Hematology/Oncology Patients With Catheter Associated Bloodstream Infection: Impact on Length of Stay and Catheter Salvage Completed NCT02095951 Phase 4 Ethanol lock therapy (ELT)
14 SWITCH OR ADD PEGYLATED-INTERFERON IN CHRONIC HEPATITIS B PATIENTS ON LONG TERM NUCLEOS(T)IDE THERAPY (SWAP TRIAL) Completed NCT01928511 Phase 4 peg-interferon alpha 2b, 1.5mcg/kg s/c given weekly;Nucleos(t)ide analogue therapy
15 Collagen-thrombin Matrix Efficacy During Cardiac Surgery: a Prospective Randomized Controlled Trial Completed NCT04310150 Phase 4 Collastat
16 A Single-center, Double-blinded, Randomized, 12 Week, Superiority Study in Infants and Young Children to Compare the Efficacy of NovaFerrum® Versus Ferrous Sulfate in the Treatment of Nutritional Iron Deficiency Anemia. Completed NCT01904864 Phase 4 elemental iron (NovaFerrum®);elemental iron (Ferrous Sulfate)
17 A Phase 4, Open-label, Single-Arm Study of Brentuximab Vedotin in Patients With Relapsed or Refractory Systemic Anaplastic Large Cell Lymphoma Recruiting NCT01909934 Phase 4 brentuximab vedotin
18 Assessment of Glucocorticoid Responsiveness and Mechanisms of Resistance in Hypereosinophilic Syndromes Recruiting NCT01524536 Phase 4 prednisone
19 Cytomegalovirus Specific Cytotoxic T Lymphocyte for the Treatment of Cytomegalovirus Infection After Allogeneic Hematopoietic Stem Cell Transplantation Recruiting NCT03004261 Phase 4 Foscarnet;Ganciclovir
20 A Multicenter, Safety and Efficacy Study of Taliglucerase Alfa in Subjects With Type 3 Gaucher Disease Not yet recruiting NCT04002830 Phase 4 Elelyso
21 Ketorolac Versus Ibuprofen for the Painful Crisis of Sickle Cell Disease - Southwestern Comprehensive Sickle Cell Center Terminated NCT00115336 Phase 4 Intravenous Ketorolac;Ibuprofen
22 Exercise Following Autologous Peripheral Blood Stem Cell Transplantation Unknown status NCT00883961 Phase 3
23 Phase III, Controlled, Double-blind, Randomized Study of 25-OH-Vitamin-D3 Substitution in Patients With Malignant and Immune-hematologic Diseases Unknown status NCT01518959 Phase 3 Cholecalciferol;oleum neutralicum
24 Exercise During Chemotherapy for Patients With Hematological Malignancies Unknown status NCT00884364 Phase 3
25 Mesenchymal Stem Cells With or Without G-CSF Mobilized Peripheral Blood Stem Cell for Treatment of Poor Graft Function and Delayed Platelet Engraftment After Allogeneic Hematopoietic Stem Cell Transplant Unknown status NCT02240992 Phase 2, Phase 3
26 Megakaryocytic Progenitor Cells for Prophylaxis and Treatment of Thrombocytopenia in Patients With Acute Leukemia Receiving Chemotherapy Unknown status NCT02241031 Phase 2, Phase 3 thrombopoietin (TPO) and interleukin-11
27 Randomized Controlled Trial Comparing Ciprofloxacin With Cefepime in Febrile Neutropenic Patients With Hematologic Diseases Completed NCT00137787 Phase 3 ciprofloxacin;cefepime
28 ACRIPAB- Trial: Anti Coagulation Regimen In High Risk PAtients for Bleeding Completed NCT00616460 Phase 3 Bivalirudin
29 Efficacy and Safety of B-Domain Deleted Recombinant Porcine Factor VIII (OBI-1) in the Treatment of Acquired Hemophilia A Due to Factor VIII Inhibitory Auto-antibodies Completed NCT01178294 Phase 2, Phase 3
30 Randomized, Open Label, Multicenter Phase IIIb Study Evaluating the Efficacy and Safety of Ruxolitinib Versus Best Available Therapy in Patients With Polycythemia Vera Who Are Hydroxyurea Resistant or Intolerant (Response 2) Completed NCT02038036 Phase 3 Best Available Therapy;ruxolitinib
31 A Phase 3 Multinational, Multi-center, Open-Label, Randomized Study of the Efficacy of Radotinib Versus Imatinib in Newly Diagnosed Ph+ CML Patients in Early Chronic Phase Completed NCT01511289 Phase 3 Imatinib;Radotinib
32 An Open-label, Multi-center, Expanded Treatment Protocol (ETP) of Ruxolitinib in Patients With Polycythemia Vera Who Are Hydroxyurea Resistant or Intolerant and for Whom no Treatment Alternatives Are Available. Completed NCT02292446 Phase 3 Ruxolitinib
33 Pediatric Hydroxyurea Phase III Clinical Trial (BABY HUG) Completed NCT00006400 Phase 3 Hydroxyurea;Placebo
34 A Randomized, Double-Blind, Multicenter Study of Denosumab Compared With Zoledronic Acid in the Treatment of Bone Disease in Subjects With Newly Diagnosed Multiple Myeloma Completed NCT01345019 Phase 3 Denosumab;Zoledronic acid;Placebo to Denosumab;Placebo to zoledronic acid;Denosumab (for the open-label treatment phase)
35 Multi-Center Trial of Anti-Thymocyte Globulin in Treatment of Aplastic Anemia and Other Hematologic Disorders Completed NCT00000597 Phase 3 antilymphocyte serum;nandrolone
36 A Prospective Study of Patients With Isolated Thrombocytopenia Following Hematopoietic Stem Cell Transplantation Completed NCT02487563 Phase 3 Decitabine;rhTPO
37 Clinical Application of Red Blood Cell Suspension, Obtained From the Pathogen Reduced Whole Blood in Children With Oncological and Hematological Diseases Completed NCT03426553 Phase 3
38 Evaluation of Therapeutic Plasma Exchange (TPE) Procedure Using the AMICUS Device Completed NCT01210716 Phase 3
39 Stroke Prevention in Sickle Cell Anemia (STOP 2) Completed NCT00006182 Phase 3
40 Stroke Prevention in Sickle Cell Anemia (STOP 1) Completed NCT00000592 Phase 3
41 Penicillin Prophylaxis in Sickle Cell Disease (PROPS) Completed NCT00000585 Phase 3 penicillin
42 Cooperative Study of Factor VIII Inhibitors Completed NCT00000582 Phase 3 factor ix
43 An Open-label, Single Arm, Phase III Study to Assess the Self-administration of AOP2014 Using a Pre-filled Pen, Developed for the Treatment of Polycythemia Vera Patients Completed NCT02523638 Phase 3 Pegylated-Proline-Interferon alpha-2b in a Pre-filled Pen
44 A Prospective, Randomized, Phase III Trial of FLAC (5-Fluorouracil, Leucovorin, Adriamycin, Cytoxan) Chemotherapy With GM-CSF (Granulocyte-Macrophage Colony-Stimulating Factor) Versus PIXY 321 in Advanced Breast Cancer Completed NCT00001338 Phase 3 FLAC chemotherapy with GM-CSF
45 Nebulized Liposomal Amphotericin B (Ambisome) Versus Nebulized Placebo for the Prophylaxis of Invasive Pulmonary Aspergillosis in Haematological Patients With Prolonged Neutropenia. A Randomized Clinical Trial. Completed NCT00263315 Phase 2, Phase 3 nebulised liposomal amphotericin B
46 A Multi-centre Randomised Double Blinded Phase III Trial of the Effect of Standard Issue Red Blood Cell Blood Units on Mortality Compared to Freshest Available Red Blood Cell Units Completed NCT01638416 Phase 3
47 Clinical Protocol Bortezomib Consolidation in Patients With Myeloma Following Treatment With High-dose Melphalan and Autologous Stem Cell Support. A Randomised NMSG Trial (15/05) Completed NCT00417911 Phase 3 bortezomib
48 The Effect of i.v. Bisphosphonate on Health-Related Quality of Life and Skeletal Morbidity for Newly Diagnosed Treatment Demanding Multiple Myeloma. A Prospective Randomised Double Blinded Dose-Effective Study With Cost-Utility Analysis. Completed NCT00376883 Phase 3 pamidronate
49 An International, Multicenter, Randomized, Double-Blind Study of Vorinostat (MK0683) or Placebo in Combination With Bortezomib in Patients With Multiple Myeloma Completed NCT00773747 Phase 3 vorinostat;bortezomib;placebo to vorinostat
50 A Phase 3, Randomized, Controlled, Double-Blind, Multinational Clinical Study of the Efficacy and Safety of Vosaroxin and Cytarabine Versus Placebo and Cytarabine in Patients With First Relapsed or Refractory Acute Myeloid Leukemia (VALOR) Completed NCT01191801 Phase 3 vosaroxin + cytarabine;placebo + cytarabine

Search NIH Clinical Center for Retinitis Pigmentosa and Erythrocytic Microcytosis

Inferred drug relations via UMLS 71 / NDF-RT 50 :

dexamethasone acetate
Dexamethasone phosphate
Dexamethasone sodium phosphate
methylprednisolone acetate
Methylprednisolone Sodium Succinate
prednisolone acetate
Prednisolone sodium phosphate
prednisolone tebutate

Cochrane evidence based reviews: hematologic diseases

Genetic Tests for Retinitis Pigmentosa and Erythrocytic Microcytosis

Genetic tests related to Retinitis Pigmentosa and Erythrocytic Microcytosis:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa and Erythrocytic Microcytosis 29 TRNT1

Anatomical Context for Retinitis Pigmentosa and Erythrocytic Microcytosis

MalaCards organs/tissues related to Retinitis Pigmentosa and Erythrocytic Microcytosis:

T Cells, Bone, Myeloid, Bone Marrow, B Cells, Testes, Colon

Publications for Retinitis Pigmentosa and Erythrocytic Microcytosis

Articles related to Retinitis Pigmentosa and Erythrocytic Microcytosis:

(show top 50) (show all 83)
# Title Authors PMID Year
Hypomorphic mutations in TRNT1 cause retinitis pigmentosa with erythrocytic microcytosis. 6 56
26494905 2016
Detection of preperimetric glaucoma using Bruch membrane opening, neural canal and posterior pole asymmetry analysis of optical coherence tomography. 61
26883374 2016
Enriched Cultures of Retinal Cells From BJNhem20 Human Embryonic Stem Cell Line of Indian Origin. 61
26567782 2015
A batch rival penalized expectation-maximization algorithm for Gaussian mixture clustering with automatic model selection. 61
22400050 2012
Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE). 54
20437613 2010
Can we prevent blood dyscrasia (leucopenia, thrombocytopenia) and epileptic seizures induced by clozapine. 54
20305597 2010
[Research progress on gene mutation of jak2]. 54
20030962 2009
The saga of JAK2 mutations and translocations in hematologic disorders: pathogenesis, diagnostic and therapeutic prospects, and revised World Health Organization diagnostic criteria for myeloproliferative neoplasms. 54
18538168 2008
Interaction of methemoglobin with GDA/n-C5H11OH/water assemblies. 54
17963777 2008
Pathology of hepatic iron overload. 54
17729397 2007
AHSP: a novel hemoglobin helper. 54
17607349 2007
Benign extramedullary myeloid proliferations. 54
17334344 2007
Characterization of circulatory disorders in beta-thalassemic mice by noninvasive ultrasound biomicroscopy. 54
17132817 2007
Recombinant human granulocyte colony-stimulating factor protects against MPTP-induced dopaminergic cell death in mice by altering Bcl-2/Bax expression levels. 54
17076657 2006
Infusion of autologous retrodifferentiated stem cells into patients with beta-thalassemia. 54
17041717 2006
GATA transcription factors and hematological diseases. 54
16960339 2006
JAK2 mutation in a boy with polycythemia vera, but not in other pediatric hematologic Disorders. 54
16710304 2006
Genetic and clinical implications of the Val617Phe JAK2 mutation in 72 families with myeloproliferative disorders. 54
16537803 2006
[Indications of G-CSF administration in hematologic disorders]. 54
16777623 2006
Update of the NAD(P)H:quinone oxidoreductase (NQO) gene family. 54
16595077 2006
GATA transcription factors in hematologic disease. 54
16158817 2005
GATA1 in normal and malignant hematopoiesis. 54
15659348 2005
[Mismatched hematopoietic stem cell transplantation using GIAC protocol: report of 100 cases]. 54
15555258 2004
Complementation of alpha-thalassaemia in alpha-globin knockout mice with a 191 kb transgene containing the human alpha-globin locus. 54
15359601 2004
Cytotoxic T-lymphocyte antigen-4 (CTLA-4) gene polymorphism and susceptibility to non-Hodgkin's lymphoma. 54
15114591 2004
Dapsone therapy for malaria during pregnancy: maternal and fetal outcomes. 54
15230645 2004
[The basis of treatment with recombinant human erythropoietin]. 54
14534502 2003
[The benefits of treatment with recombinant human erythropoietin in cancer patients]. 54
14534503 2003
[Treatment of malignant hematologic diseases by peripheral blood stem cell transplantation combined with halotype lymphocyte infusion]. 54
12844415 2003
CTLA-4 exon 1 polymorphism in patients with autoimmune blood disorders. 54
12555221 2003
[A pilot study of G-CSF mobilized allogeneic bone marrow cells plus peripheral blood stem cells transplantation for malignant hematological diseases]. 54
12509932 2002
Serum thrombopoietin in chronic liver disease: relation to severity of the disease and spleen size. 54
12239947 2002
Absence of donor-derived keratinocyte stem cells in skin tissues cultured from patients after mobilized peripheral blood hematopoietic stem cell transplantation. 54
12160846 2002
Prevalence of HFE genotypes, C282Y and H63D, in patients with hematologic disorders. 54
11836162 2002
[Mobilization of peripheral blood cells for auto- and allogenic transplantations of hemopoietic cells]. 54
12181830 2002
FLT3 internal tandem duplication mutations associated with human acute myeloid leukemias induce myeloproliferative disease in a murine bone marrow transplant model. 54
11756186 2002
A community-based study of common hereditary blood disorders in Oman. 54
15332742 2001
The N-terminal zinc finger of the erythroid transcription factor GATA-1 binds GATC motifs in DNA. 54
11445591 2001
[Hematopoietic growth factors in prophylaxis and therapy of infections complications in children with neutropenia]. 54
11528556 2001
Patients with neoplastic and nonneoplastic hematologic diseases acquire CTLA-4 antibodies after blood transfusion. 54
11316895 2001
Induction of erythroid differentiation of human K562 cells by cisplatin analogs. 54
10807942 2000
Genetic instability and the etiology of somatic PIG-A mutations in paroxysmal nocturnal hemoglobinuria. 54
10389589 1999
Plan and process for hematology laboratory standard in Thailand. 54
10926279 1999
[Methods of autologous peripheral blood stem cell (PBSC) mobilization in oncological and hematological patients]. 54
10532095 1999
Correlation between lower c-mpl protein expression and favorable cytogenetic groups in acute myeloid leukemia. 54
9933137 1999
Erythropoietin receptor and hematological disease. 54
9883806 1999
Flow cytometric identification of myeloid disorders by asynchronous expression of the CD14 and CD66 antigens. 54
9855250 1998
Anemia and survival in HIV infection. 54
9732065 1998
Molecular diagnosis of patients with beta-thalassemia major in central Taiwan by amplified created restriction site analysis. 54
9852674 1998
Evaluation of RBC ferritin and reticulocyte measurements in monitoring response to intravenous iron therapy. 54
9398126 1997

Variations for Retinitis Pigmentosa and Erythrocytic Microcytosis

ClinVar genetic disease variations for Retinitis Pigmentosa and Erythrocytic Microcytosis:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TRNT1 NM_182916.3(TRNT1):c.128_130del (p.Glu43del)deletion Pathogenic 234932 rs876661297 3:3170850-3170852 3:3129166-3129168
2 TRNT1 NM_182916.3(TRNT1):c.1252del (p.Ser418fs)deletion Pathogenic 234933 rs876661298 3:3189779-3189779 3:3148095-3148095
3 TRNT1 NM_182916.3(TRNT1):c.609-26T>CSNV Pathogenic 234935 rs876661299 3:3188088-3188088 3:3146404-3146404
4 TRNT1 NM_182916.3(TRNT1):c.1252dup (p.Ser418fs)duplication Pathogenic/Likely pathogenic 234934 rs876661298 3:3189778-3189779 3:3148094-3148095
5 TRNT1 NM_182916.3(TRNT1):c.608+6A>TSNV Uncertain significance 827993 3:3186400-3186400 3:3144716-3144716

Expression for Retinitis Pigmentosa and Erythrocytic Microcytosis

Search GEO for disease gene expression data for Retinitis Pigmentosa and Erythrocytic Microcytosis.

Pathways for Retinitis Pigmentosa and Erythrocytic Microcytosis

Pathways related to Retinitis Pigmentosa and Erythrocytic Microcytosis according to GeneCards Suite gene sharing:

(show all 13)
# Super pathways Score Top Affiliating Genes
Show member pathways
12.5 JAK2 IL3 EPO CSF3
2 12.4 JAK2 IL3 EPO
Show member pathways
11.7 JAK2 IL3 EPO
Show member pathways
11.65 JAK2 IL3 EPO CSF3
Show member pathways
11.51 JAK2 EPO
6 11.5 IL3 EPO CSF3
Show member pathways
11.48 JAK2 CSF3
Show member pathways
11.46 JAK2 IL3
9 11.33 IL3 EPO CSF3
10 11.16 IL3 EPO
Show member pathways
11.1 JAK2 EPO
12 10.87 IL3 CSF3
13 10.48 IL3 EPO CSF3

GO Terms for Retinitis Pigmentosa and Erythrocytic Microcytosis

Biological processes related to Retinitis Pigmentosa and Erythrocytic Microcytosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.56 JAK2 IL3 EPO CSF3
2 cytokine-mediated signaling pathway GO:0019221 9.54 JAK2 IL3 CSF3
3 positive regulation of DNA-binding transcription factor activity GO:0051091 9.46 JAK2 CSF3
4 negative regulation of neuron death GO:1901215 9.43 EPO CSF3
5 erythrocyte differentiation GO:0030218 9.4 JAK2 EPO
6 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.33 JAK2 IL3 CSF3
7 positive regulation of Ras protein signal transduction GO:0046579 9.32 JAK2 EPO
8 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.13 JAK2 EPO CSF3
9 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 8.8 JAK2 IL3 EPO

Molecular functions related to Retinitis Pigmentosa and Erythrocytic Microcytosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 8.8 IL3 EPO CSF3

Sources for Retinitis Pigmentosa and Erythrocytic Microcytosis

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
54 Novoseek
57 OMIM via Orphanet
61 PubMed
70 Tocris
72 UMLS via Orphanet
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