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RPEM
MCID: RTN193
MIFTS: 52

Retinitis Pigmentosa and Erythrocytic Microcytosis (RPEM)

Categories: Blood diseases, Genetic diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Retinitis Pigmentosa and Erythrocytic Microcytosis

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MalaCards integrated aliases for Retinitis Pigmentosa and Erythrocytic Microcytosis:

Name: Retinitis Pigmentosa and Erythrocytic Microcytosis 57 72 29 6
Rpem 57 72
Hematological Disease 70
Hematologic Diseases 44
Hematologic Disease 17

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

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


HPO:

31
retinitis pigmentosa and erythrocytic microcytosis:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases
Anatomical: Blood diseases
See all MalaCards categories (disease lists)


Sources

Summaries for Retinitis Pigmentosa and Erythrocytic Microcytosis

About this section
UniProtKB/Swiss-Prot : 72 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 granulocytopenia and polycythemia, and has symptoms including angina pectoris, chest pain and edema. 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 Prednisone and Heparin have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and myeloid, and related phenotypes are photoreceptor layer loss on macular oct and anemia

More information from OMIM: 616959
Sources

Related Diseases for Retinitis Pigmentosa and Erythrocytic Microcytosis

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

(show top 50) (show all 286)
# Related Disease Score Top Affiliating Genes
1 granulocytopenia 30.3 IL3 CSF3
2 polycythemia 29.9 IL3 EPO
3 acute leukemia 29.9 IL3 EPO CSF3
4 myeloma, multiple 29.8 TRNT1 IL3 CSF3
5 lymphoma, hodgkin, classic 29.6 IL3 CSF3
6 neutropenia 29.6 IL3 EPO CSF3
7 myelodysplastic syndrome 29.5 PIGA IL3 EPO CSF3
8 aplastic anemia 29.5 PIGA IL3 EPO CSF3
9 leukemia, chronic myeloid 29.5 IL3 EPO CSF3
10 refractory anemia 29.5 EPO CSF3
11 felty syndrome 29.5 IL3 CSF3
12 miliary tuberculosis 29.5 EPO CSF3
13 gastroenteritis 29.4 IL3 CSF3
14 hemolytic anemia 29.4 PIGA IL3 EPO CSF3
15 hypersplenism 29.4 EPO CSF3
16 myelofibrosis 29.4 IL3 EPO CSF3
17 mucositis 29.3 IL3 CSF3
18 congenital hemolytic anemia 29.3 IL3 EPO
19 sickle cell anemia 29.3 IL3 EPO CSF3
20 polycythemia vera 29.3 IL3 EPO CSF3
21 pancytopenia 29.2 IL3 EPO CSF3
22 deficiency anemia 29.2 IL3 EPO CSF3
23 thrombocytosis 29.2 IL3 EPO CSF3
24 thrombocytopenia 29.2 IL3 EPO CSF3 CDC42
25 essential thrombocythemia 29.1 IL3 EPO CSF3
26 hemoglobinuria 28.9 PIGA EPO CSF3
27 paroxysmal nocturnal hemoglobinuria 28.9 PIGA EPO CSF3
28 blood coagulation disease 28.9 IL3 EPO CSF3
29 myeloproliferative neoplasm 28.8 IL3 EPO CSF3
30 trnt1 deficiency 11.3
31 rare genetic hematologic disease 11.0
32 subcorneal pustular dermatosis 10.9
33 anemia, hypochromic microcytic, with iron overload 1 10.9
34 atransferrinemia 10.9
35 methemoglobinemia due to deficiency of methemoglobin reductase 10.9
36 thrombotic thrombocytopenic purpura, hereditary 10.9
37 hemolytic anemia, congenital, x-linked 10.9
38 anemia, hypochromic microcytic, with iron overload 2 10.9
39 diamond-blackfan anemia-like 10.9
40 purpura 10.5
41 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 10.4
42 graft-versus-host disease 10.4
43 acute graft versus host disease 10.4
44 thalassemia 10.3
45 thrombocytopenic purpura, autoimmune 10.3
46 anemia, autoimmune hemolytic 10.3
47 leukemia, acute lymphoblastic 10.3
48 aspergillosis 10.3
49 hereditary spherocytosis 10.3
50 splenomegaly 10.3

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
Sources

Symptoms & Phenotypes for Retinitis Pigmentosa and Erythrocytic Microcytosis

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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 anisocytosis 31 HP:0011273
10 decreased mean corpuscular volume 31 HP:0025066
11 retinal pigment epithelial atrophy 31 HP:0007722
12 epiretinal membrane 31 HP:0100014
13 ring scotoma 31 HP:0030529

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Hematology:
elliptocytosis
anisocytosis
poikilocytosis
microcytosis
near- to low-normal hemoglobin
more
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)
more

Clinical features from OMIM®:

616959 (Updated 05-Apr-2021)

UMLS symptoms related to Retinitis Pigmentosa and Erythrocytic Microcytosis:


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

Drugs & Therapeutics for Retinitis Pigmentosa and Erythrocytic Microcytosis

About this section

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

(show top 50) (show all 270)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
2
Heparin Approved, Investigational Phase 4 9005-49-6 772 9812414
3
Ethanol Approved Phase 4 64-17-5 702
4
Ganciclovir Approved, Investigational Phase 4 82410-32-0 3454
5
Foscarnet Approved Phase 4 63585-09-1, 4428-95-9 3415
6
Ibuprofen Approved Phase 4 15687-27-1 3672
7
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
8
Phosphonoacetic Acid Experimental Phase 4 4408-78-0 546
9 Hormone Antagonists Phase 4
10 Antineoplastic Agents, Hormonal Phase 4
11 glucocorticoids Phase 4
12 Epoetin alfa Phase 4 113427-24-0
13 Hematinics Phase 4
14 calcium heparin Phase 4
15 Anti-Infective Agents, Local Phase 4
16 Anti-Retroviral Agents Phase 4
17 Ganciclovir triphosphate Phase 4
18 Reverse Transcriptase Inhibitors Phase 4
19 Anti-Inflammatory Agents Phase 4
20 Analgesics Phase 4
21 Analgesics, Non-Narcotic Phase 4
22 Cyclooxygenase Inhibitors Phase 4
23 Ketorolac Tromethamine Phase 4
24 Anti-Inflammatory Agents, Non-Steroidal Phase 4
25
Oprelvekin Approved, Investigational Phase 2, Phase 3 145941-26-0
26
Ciprofloxacin Approved, Investigational Phase 3 85721-33-1 2764
27
Cefepime Approved, Investigational Phase 3 88040-23-7 5479537
28
Amphotericin B Approved, Investigational Phase 2, Phase 3 1397-89-3 14956 5280965
29
Sargramostim Approved, Investigational Phase 3 123774-72-1, 83869-56-1
30
tannic acid Approved Phase 3 1401-55-4
31
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
32
Bivalirudin Approved, Investigational Phase 3 128270-60-0 16129704
33
Fluorouracil Approved Phase 3 51-21-8 3385
34
leucovorin Approved Phase 3 58-05-9 6006
35
Nandrolone phenpropionate Approved, Illicit, Investigational Phase 3 62-90-8 229455
36
Nandrolone decanoate Approved, Illicit Phase 3 360-70-3 9677
37
Sofosbuvir Approved Phase 3 1190307-88-0 45375808
38
Ledipasvir Approved Phase 3 1256388-51-8 67505836
39
Azithromycin Approved Phase 3 83905-01-5 447043 55185
40
Benralizumab Approved, Investigational Phase 2, Phase 3 1044511-01-4
41
Iron Approved Phase 3 7439-89-6 23925 29936
42
Hydroxyurea Approved Phase 3 127-07-1 3657
43
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
44
Riboflavin Approved, Investigational, Nutraceutical, Vet_approved Phase 3 83-88-5 493570
45
Vitamin D Approved, Nutraceutical, Vet_approved Phase 3 1406-16-2
46
Vitamin D3 Approved, Nutraceutical Phase 3 67-97-0 5280795 6221
47
Molgramostim Investigational Phase 3 99283-10-0
48
Nandrolone Experimental, Investigational Phase 3 434-22-0 9904
49 Cytochrome P-450 Enzyme Inhibitors Phase 3
50 Autoantibodies Phase 2, Phase 3

Interventional clinical trials:

(show top 50) (show all 319)
# Name Status NCT ID Phase Drugs
1 Value of the LightCycler® SeptiFast Test MGRADE for the Pathogen Detection in Neutropenic Hematological Patients Completed NCT01114165 Phase 4
2 Early Application of CPAP in Hematologic Neutropenic Patients Avoid Acute Respiratory Failure Completed NCT00507533 Phase 4
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 Optimizing Treatment of the Anaemia in Onco-Hematological Diseases With NeoRecormon 30,000 IU Once Weekly Completed NCT02564094 Phase 4 Epoetin beta
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 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
7 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)
8 Assessment of Glucocorticoid Responsiveness and Mechanisms of Resistance in Hypereosinophilic Syndromes Completed NCT01524536 Phase 4 prednisone
9 Cytomegalovirus Specific Cytotoxic T Lymphocyte for the Treatment of Cytomegalovirus Infection After Allogeneic Hematopoietic Stem Cell Transplantation Recruiting NCT03004261 Phase 4 Foscarnet;Ganciclovir
10 Ketorolac Versus Ibuprofen for the Painful Crisis of Sickle Cell Disease - Southwestern Comprehensive Sickle Cell Center Terminated NCT00115336 Phase 4 Intravenous Ketorolac;Ibuprofen
11 Exercise Following Autologous Peripheral Blood Stem Cell Transplantation Unknown status NCT00883961 Phase 3
12 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
13 Exercise During Chemotherapy for Patients With Hematological Malignancies Unknown status NCT00884364 Phase 3
14 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
15 Randomized Controlled Trial Comparing Ciprofloxacin With Cefepime in Febrile Neutropenic Patients With Hematologic Diseases Completed NCT00137787 Phase 3 ciprofloxacin;cefepime
16 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
17 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
18 Pediatric Hydroxyurea Phase III Clinical Trial (BABY HUG) Completed NCT00006400 Phase 3 Hydroxyurea;Placebo
19 ACRIPAB- Trial: Anti Coagulation Regimen In High Risk PAtients for Bleeding Completed NCT00616460 Phase 3 Bivalirudin
20 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
21 Stroke Prevention in Sickle Cell Anemia (STOP 2) Completed NCT00006182 Phase 3
22 Stroke Prevention in Sickle Cell Anemia (STOP 1) Completed NCT00000592 Phase 3
23 Trial to Reduce Alloimmunization to Platelets (TRAP) Completed NCT00000589 Phase 3
24 Penicillin Prophylaxis in Sickle Cell Disease (PROPS) Completed NCT00000585 Phase 3 penicillin
25 Cooperative Study of Factor VIII Inhibitors Completed NCT00000582 Phase 3 factor ix
26 A Prospective Study of Patients With Isolated Thrombocytopenia Following Hematopoietic Stem Cell Transplantation Completed NCT02487563 Phase 3 Decitabine;rhTPO
27 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
28 Functional Outcomes in Cardiovascular Patients Undergoing Surgical Hip Fracture Repair (FOCUS) Completed NCT00071032 Phase 3
29 Multi-Center Trial of Anti-Thymocyte Globulin in Treatment of Aplastic Anemia and Other Hematologic Disorders Completed NCT00000597 Phase 3 antilymphocyte serum;nandrolone
30 Multicenter Study of Hydroxyurea in Patients With Sickle Cell Anemia (MSH) Completed NCT00000586 Phase 3 hydroxyurea
31 Evaluation of Therapeutic Plasma Exchange (TPE) Procedure Using the AMICUS Device Completed NCT01210716 Phase 3
32 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
33 Seamless Phase II-Phase III Randomized Clinical Trial to Identify and Confirm the Most Promising Novel Intervention to Alleviate Morbidity and Mortality After Allogeneic Hematopoietic Cell Transplantation Among Older, Medically Infirm, or Frail Patients With Hematological Diseases Recruiting NCT03870750 Phase 2, Phase 3
34 Using DNA-Typing and Erythrocyte Microparticle Analysis to Detect Homologous/Autologous Blood Doping- a Transfusion Study Recruiting NCT03548766 Phase 3
35 Pharmacokinetics of Sofosbuvir and Ledipasvir in Hepatitis C Virus - Infected Adolescent Patients With Haematological Disorders Recruiting NCT04353986 Phase 3 Sofosbuvir and Ledipasvir
36 Evaluation of the Efficacy of Azithromycin to Prevent Bronchiolitis Obliterans Syndrome After Allogeneic Hematopoietic Stem Cell Transplantation Active, not recruiting NCT01959100 Phase 3 Azithromycin;Placebo
37 A Phase 2a Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Safety and Efficacy of Subcutaneous Benralizumab (MEDI-563) in Reducing Eosinophilia in Subjects With Hypereosinophilic Syndrome (HES) Active, not recruiting NCT02130882 Phase 2, Phase 3 benralizumab
38 Efficacy and Safety of B-Domain Deleted Recombinant Porcine Factor VIII (OBI-1) in the Treatment of Patients With Congenital Hemophilia A With Factor VIII Inhibitors Terminated NCT01434511 Phase 3
39 Phase III, Controlled, Double-blind, Randomized Study of 25-OH-Vitamin-D3 Substitution in Patients With Malignant and Immune-hematologic Diseases Terminated NCT01518959 Phase 3 Cholecalciferol;oleum neutralicum
40 In-vivo T-cell Depletion and Hematopoietic Stem Cell Transplantation for Life-Threatening Immune Deficiencies and Histiocytic Disorders Terminated NCT00176826 Phase 2, Phase 3 Myeloablative conditioning regimen
41 Stroke With Transfusions Changing to Hydroxyurea Terminated NCT00122980 Phase 3 Hydroxyurea
42 Phase 3b, Randomized Trial of Continuous Revlimid® (Lenalidomide) Therapy Versus Observation Following Induction Therapy That Does Not Include Revlimid, Pomalyst® or Thalomid® in Newly Diagnosed Multiple Myeloma Withdrawn NCT02155634 Phase 3 Lenalidomide
43 Direct Intra Bone Marrow Injection Of Unrelated Cord Blood Cells To Improve Engraftment And Reduce Acute Graft-Versus-Host Disease Unknown status NCT00696046 Phase 1, Phase 2
44 Everolimus and Mycophenolate Sodium as GvHD Prophylaxis in Allogeneic Stem Cell Transplantation Unknown status NCT00856505 Phase 1, Phase 2 Everolimus and mycophenolate sodium
45 Long-term Versus Short-term Sequential Therapy (Intravenous Itraconazole Followed by Oral Solution) of Itraconazole as Primary Prophylaxis in Patients Undergoing Allogeneic Stem Cell Transplantation Unknown status NCT01160952 Phase 2 itraconazole
46 Mesenchymal Stem Cells Combined With Cord Blood for Treatment of Graft Failure Following Autologous Hematopoietic Stem Cell Transplantation Unknown status NCT01763099 Phase 2
47 Mesenchymal Stem Cells From Third-party Donors for Treatment of Poor Graft Function After Allogeneic Hematopoietic Stem Cell Transplantation Unknown status NCT01763086 Phase 2
48 Efficacy and Safety of Levamisole Combined With Standard Prednisolone in Warm Antibody Autoimmune Hemolytic Anemia. Unknown status NCT01579110 Phase 2 levamisole;Prednisone
49 Mesenchymal Stem Cells for Treatment of CMV Infection After Hematopoietic Stem Cell Transplant Unknown status NCT02083731 Phase 2
50 G-CSF Mobilized Peripheral Blood Stem Cell Combined With Mesenchymal Stem Cells for Treatment of Poor Graft Function After Allogeneic Hematopoietic Stem Cell Transplant Unknown status NCT02083718 Phase 2

Search NIH Clinical Center for Retinitis Pigmentosa and Erythrocytic Microcytosis

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


Dexamethasone
dexamethasone acetate
DEXAMETHASONE ACETATE PWDR
Dexamethasone phosphate
Dexamethasone sodium phosphate
DEXAMETHASONE SODIUM PHOSPHATE PWDR
Methylprednisolone
methylprednisolone acetate
Methylprednisolone Sodium Succinate
prednisolone
prednisolone acetate
PREDNISOLONE ACETATE PWDR
PREDNISOLONE PWDR
Prednisolone sodium phosphate
prednisolone tebutate
Prednisone
PREDNISONE PWDR

Cochrane evidence based reviews: hematologic diseases

Sources

Genetic Tests for Retinitis Pigmentosa and Erythrocytic Microcytosis

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Genetic tests related to Retinitis Pigmentosa and Erythrocytic Microcytosis:

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

Anatomical Context for Retinitis Pigmentosa and Erythrocytic Microcytosis

About this section

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

40
Bone, Bone Marrow, Myeloid, T Cells, Liver, Skin, Whole Blood
Sources

Publications for Retinitis Pigmentosa and Erythrocytic Microcytosis

About this section

Articles related to Retinitis Pigmentosa and Erythrocytic Microcytosis:

(show top 50) (show all 84)
# Title Authors PMID Year
1
Hypomorphic mutations in TRNT1 cause retinitis pigmentosa with erythrocytic microcytosis. 6 57
26494905 2016
2
Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes. 6
29394990 2018
3
Detection of preperimetric glaucoma using Bruch membrane opening, neural canal and posterior pole asymmetry analysis of optical coherence tomography. 61
26883374 2016
4
Enriched Cultures of Retinal Cells From BJNhem20 Human Embryonic Stem Cell Line of Indian Origin. 61
26567782 2015
5
A batch rival penalized expectation-maximization algorithm for Gaussian mixture clustering with automatic model selection. 61
22400050 2012
6
Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE). 54
20437613 2010
7
Can we prevent blood dyscrasia (leucopenia, thrombocytopenia) and epileptic seizures induced by clozapine. 54
20305597 2010
8
[Research progress on gene mutation of jak2]. 54
20030962 2009
9
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
10
Interaction of methemoglobin with GDA/n-C5H11OH/water assemblies. 54
17963777 2008
11
Pathology of hepatic iron overload. 54
17729397 2007
12
AHSP: a novel hemoglobin helper. 54
17607349 2007
13
Benign extramedullary myeloid proliferations. 54
17334344 2007
14
Characterization of circulatory disorders in beta-thalassemic mice by noninvasive ultrasound biomicroscopy. 54
17132817 2007
15
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
16
Infusion of autologous retrodifferentiated stem cells into patients with beta-thalassemia. 54
17041717 2006
17
GATA transcription factors and hematological diseases. 54
16960339 2006
18
JAK2 mutation in a boy with polycythemia vera, but not in other pediatric hematologic Disorders. 54
16710304 2006
19
Genetic and clinical implications of the Val617Phe JAK2 mutation in 72 families with myeloproliferative disorders. 54
16537803 2006
20
[Indications of G-CSF administration in hematologic disorders]. 54
16777623 2006
21
Update of the NAD(P)H:quinone oxidoreductase (NQO) gene family. 54
16595077 2006
22
GATA transcription factors in hematologic disease. 54
16158817 2005
23
GATA1 in normal and malignant hematopoiesis. 54
15659348 2005
24
[Mismatched hematopoietic stem cell transplantation using GIAC protocol: report of 100 cases]. 54
15555258 2004
25
Complementation of alpha-thalassaemia in alpha-globin knockout mice with a 191 kb transgene containing the human alpha-globin locus. 54
15359601 2004
26
Cytotoxic T-lymphocyte antigen-4 (CTLA-4) gene polymorphism and susceptibility to non-Hodgkin's lymphoma. 54
15114591 2004
27
Dapsone therapy for malaria during pregnancy: maternal and fetal outcomes. 54
15230645 2004
28
[The basis of treatment with recombinant human erythropoietin]. 54
14534502 2003
29
[The benefits of treatment with recombinant human erythropoietin in cancer patients]. 54
14534503 2003
30
[Treatment of malignant hematologic diseases by peripheral blood stem cell transplantation combined with halotype lymphocyte infusion]. 54
12844415 2003
31
CTLA-4 exon 1 polymorphism in patients with autoimmune blood disorders. 54
12555221 2003
32
[A pilot study of G-CSF mobilized allogeneic bone marrow cells plus peripheral blood stem cells transplantation for malignant hematological diseases]. 54
12509932 2002
33
Serum thrombopoietin in chronic liver disease: relation to severity of the disease and spleen size. 54
12239947 2002
34
Absence of donor-derived keratinocyte stem cells in skin tissues cultured from patients after mobilized peripheral blood hematopoietic stem cell transplantation. 54
12160846 2002
35
Prevalence of HFE genotypes, C282Y and H63D, in patients with hematologic disorders. 54
11836162 2002
36
FLT3 internal tandem duplication mutations associated with human acute myeloid leukemias induce myeloproliferative disease in a murine bone marrow transplant model. 54
11756186 2002
37
[Mobilization of peripheral blood cells for auto- and allogenic transplantations of hemopoietic cells]. 54
12181830 2002
38
A community-based study of common hereditary blood disorders in Oman. 54
15332742 2001
39
The N-terminal zinc finger of the erythroid transcription factor GATA-1 binds GATC motifs in DNA. 54
11445591 2001
40
[Hematopoietic growth factors in prophylaxis and therapy of infections complications in children with neutropenia]. 54
11528556 2001
41
Patients with neoplastic and nonneoplastic hematologic diseases acquire CTLA-4 antibodies after blood transfusion. 54
11316895 2001
42
Induction of erythroid differentiation of human K562 cells by cisplatin analogs. 54
10807942 2000
43
Genetic instability and the etiology of somatic PIG-A mutations in paroxysmal nocturnal hemoglobinuria. 54
10389589 1999
44
Correlation between lower c-mpl protein expression and favorable cytogenetic groups in acute myeloid leukemia. 54
9933137 1999
45
Erythropoietin receptor and hematological disease. 54
9883806 1999
46
[Methods of autologous peripheral blood stem cell (PBSC) mobilization in oncological and hematological patients]. 54
10532095 1999
47
Plan and process for hematology laboratory standard in Thailand. 54
10926279 1999
48
Flow cytometric identification of myeloid disorders by asynchronous expression of the CD14 and CD66 antigens. 54
9855250 1998
49
Anemia and survival in HIV infection. 54
9732065 1998
50
Molecular diagnosis of patients with beta-thalassemia major in central Taiwan by amplified created restriction site analysis. 54
9852674 1998
Sources

Variations for Retinitis Pigmentosa and Erythrocytic Microcytosis

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ClinVar genetic disease variations for Retinitis Pigmentosa and Erythrocytic Microcytosis:

6 (show all 20)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TRNT1 NM_182916.3(TRNT1):c.128_130del (p.Glu43del) Deletion Pathogenic 234932 rs876661297 GRCh37: 3:3170850-3170852
GRCh38: 3:3129166-3129168
2 TRNT1 NM_182916.3(TRNT1):c.1252del (p.Ser418fs) Deletion Pathogenic 234933 rs876661298 GRCh37: 3:3189779-3189779
GRCh38: 3:3148095-3148095
3 TRNT1 NM_182916.3(TRNT1):c.609-26T>C SNV Pathogenic 234935 rs876661299 GRCh37: 3:3188088-3188088
GRCh38: 3:3146404-3146404
4 TRNT1 NM_182916.3(TRNT1):c.1252dup (p.Ser418fs) Duplication Pathogenic 234934 rs876661298 GRCh37: 3:3189778-3189779
GRCh38: 3:3148094-3148095
5 TRNT1 NM_182916.3(TRNT1):c.538A>T (p.Lys180Ter) SNV Pathogenic 836471 GRCh37: 3:3186324-3186324
GRCh38: 3:3144640-3144640
6 TRNT1 NM_182916.3(TRNT1):c.903del (p.Val302fs) Deletion Pathogenic 1030388 GRCh37: 3:3189232-3189232
GRCh38: 3:3147548-3147548
7 TRNT1 NM_182916.3(TRNT1):c.1019_1020dup (p.Asp341fs) Duplication Pathogenic 1034419 GRCh37: 3:3189349-3189350
GRCh38: 3:3147665-3147666
8 CDC42 NM_001791.4(CDC42):c.203G>A (p.Arg68Gln) SNV Likely pathogenic 450370 rs1553196096 GRCh37: 1:22412956-22412956
GRCh38: 1:22086463-22086463
9 CDC42 NM_001791.4(CDC42):c.68A>G (p.Tyr23Cys) SNV Likely pathogenic 208731 rs797044916 GRCh37: 1:22405039-22405039
GRCh38: 1:22078546-22078546
10 TRNT1 NM_182916.3(TRNT1):c.1057-7C>G SNV Likely pathogenic 157615 rs368078167 GRCh37: 3:3189583-3189583
GRCh38: 3:3147899-3147899
11 TRNT1 NM_182916.3(TRNT1):c.1246A>G (p.Lys416Glu) SNV Likely pathogenic 963695 GRCh37: 3:3189779-3189779
GRCh38: 3:3148095-3148095
12 CDC42 NM_001791.4(CDC42):c.511G>A (p.Glu171Lys) SNV Likely pathogenic 487654 rs1553196539 GRCh37: 1:22417945-22417945
GRCh38: 1:22091452-22091452
13 CDC42 NM_001791.4(CDC42):c.196A>G (p.Arg66Gly) SNV Likely pathogenic 208668 rs797044870 GRCh37: 1:22412949-22412949
GRCh38: 1:22086456-22086456
14 CDC42 NM_001791.4(CDC42):c.247T>C (p.Ser83Pro) SNV Likely pathogenic 487652 rs1553196101 GRCh37: 1:22413000-22413000
GRCh38: 1:22086507-22086507
15 CDC42 NM_001791.4(CDC42):c.476C>T (p.Ala159Val) SNV Likely pathogenic 487653 rs1553196134 GRCh37: 1:22413349-22413349
GRCh38: 1:22086856-22086856
16 CDC42 NM_001791.4(CDC42):c.62T>C (p.Ile21Thr) SNV Likely pathogenic 422537 rs1064795845 GRCh37: 1:22405033-22405033
GRCh38: 1:22078540-22078540
17 CDC42 NM_001791.4(CDC42):c.242G>T (p.Cys81Phe) SNV Likely pathogenic 432071 rs1553196100 GRCh37: 1:22412995-22412995
GRCh38: 1:22086502-22086502
18 CDC42 NM_001791.4(CDC42):c.191A>G (p.Tyr64Cys) SNV Likely pathogenic 218950 rs864309721 GRCh37: 1:22412944-22412944
GRCh38: 1:22086451-22086451
19 TRNT1 NM_182916.3(TRNT1):c.608+6A>T SNV Uncertain significance 827993 rs747803738 GRCh37: 3:3186400-3186400
GRCh38: 3:3144716-3144716
20 TRNT1 NM_182916.3(TRNT1):c.565C>A (p.Gln189Lys) SNV Uncertain significance 1030387 GRCh37: 3:3186351-3186351
GRCh38: 3:3144667-3144667
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Expression for Retinitis Pigmentosa and Erythrocytic Microcytosis

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

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

# Super pathways Score Top Affiliating Genes
1
PI3K-Akt signaling pathway 36
Show member pathways
 12.39 IL3 EPO CSF3 CDC42
2
Pathways in cancer 36
12.33 IL3 EPO CDC42
3
JAK-STAT signaling pathway 36
Show member pathways
 11.9 IL3 EPO CSF3
4
Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers 64
11.4 IL3 EPO CSF3
5
Hematopoietic cell lineage 36
11.13 IL3 EPO CSF3
6
Differentiation Pathway 1
11.09 IL3 EPO
7
Cytokines and Inflammatory Response 1
10.83 IL3 CSF3
8
G-protein signaling_Rap2B regulation pathway 23
10.54 IL3 CSF3 CDC42
9
Hematopoietic Stem Cell Differentiation 1
10.48 IL3 EPO CSF3
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GO Terms for Retinitis Pigmentosa and Erythrocytic Microcytosis

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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 9.43 IL3 EPO CSF3
2 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.37 IL3 CSF3
3 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.32 EPO CSF3
4 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.16 IL3 EPO
5 negative regulation of neuron death GO:1901215 8.96 EPO CSF3
6 positive regulation of actin cytoskeleton reorganization GO:2000251 8.62 CSF3 CDC42

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
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Sources for Retinitis Pigmentosa and Erythrocytic Microcytosis

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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