MCID: HMS001
MIFTS: 51

Hemosiderosis

Categories: Rare diseases, Metabolic diseases

Aliases & Classifications for Hemosiderosis

MalaCards integrated aliases for Hemosiderosis:

Name: Hemosiderosis 12 76 53 55 44 15 73
Iron Overload 44 40 73
Haemosiderosis 12

Classifications:



External Ids:

Disease Ontology 12 DOID:12119
NCIt 50 C82892
SNOMED-CT 68 190849009 39011001

Summaries for Hemosiderosis

Disease Ontology : 12 An iron metabolism disease that has material basis in an accumulation of hemosiderin, an iron-storage complex, resulting in iron overload.

MalaCards based summary : Hemosiderosis, also known as iron overload, is related to iron overload in africa and aceruloplasminemia. An important gene associated with Hemosiderosis is CP (Ceruloplasmin), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Insulin receptor recycling. The drugs Deferiprone and Deferoxamine have been mentioned in the context of this disorder. Affiliated tissues include liver, heart and bone, and related phenotypes are hematopoietic system and liver/biliary system

Wikipedia : 76 Hemosiderosis (AmE) or haemosiderosis (BrE) is a form of iron overload disorder resulting in the... more...

Related Diseases for Hemosiderosis

Diseases related to Hemosiderosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 160)
# Related Disease Score Top Affiliating Genes
1 iron overload in africa 34.7 HFE TF
2 aceruloplasminemia 29.7 CP FTL HAMP HFE TF
3 liver cirrhosis 29.6 GPT HFE TF
4 hemoglobin h disease 29.4 EPO TF TFRC
5 thalassemia 29.2 EPO HFE TF TFRC
6 atransferrinemia 28.8 CP HAMP HFE SLC11A2 SLC40A1 TF
7 microcytic anemia 28.5 EPO SLC11A2 TF TFRC
8 siderosis 28.3 HFE SLC40A1 TF TFRC
9 porphyria cutanea tarda 28.3 HAMP HFE TF TFRC
10 beta-thalassemia 28.0 EPO HAMP HFE TF TFRC
11 iron metabolism disease 26.9 CP EPO HFE SLC11A2 SLC40A1 TF
12 iron deficiency anemia 26.5 EPO HAMP HFE SLC11A2 SLC40A1 TF
13 hemochromatosis, type 1 24.8 CP FTL HAMP HFE SLC11A2 SLC40A1
14 deficiency anemia 24.5 CP EPO FTL HAMP HFE SLC11A2
15 hypochromic microcytic anemia with iron overload 12.6
16 anemia, hypochromic microcytic, with iron overload 1 12.5
17 pulmonary hemosiderosis 12.5
18 anemia, hypochromic microcytic, with iron overload 2 12.5
19 hemochromatosis, type 5 12.2
20 secondary pulmonary hemosiderosis 12.0
21 hemosiderosis, pulmonary, with deficiency of gamma-a globulin 11.9
22 superficial siderosis 11.6
23 gracile syndrome 11.1
24 fascioliasis 10.5 CP GPT
25 ancylostomiasis 10.5 CP TF
26 swayback 10.5 CP HFE
27 hfe-associated hereditary hemochromatosis 10.5 HFE SLC11A2
28 kwashiorkor 10.5 GPT TF
29 epileptic encephalopathy, early infantile, 36 10.4 CP TF
30 nonalcoholic steatohepatitis 10.4 GPT HFE
31 eales disease 10.4 CP TF
32 hepatitis 10.3
33 pure red-cell aplasia 10.3 EPO TF
34 hypochromic microcytic anemia 10.2 CP SLC11A2 TF
35 angiomatous meningioma 10.2 TF TFRC
36 protein-energy malnutrition 10.2 CP GPT TF
37 celiac disease 1 10.2
38 hemorrhagic fever 10.1 GPT TFRC
39 vitamin b12 deficiency 10.1 EPO TF
40 fetal erythroblastosis 10.1 EPO TFRC
41 analbuminemia 10.0 EPO GPT TF
42 glomerulonephritis 10.0
43 cerebritis 10.0
44 anemia of prematurity 10.0 EPO HAMP
45 heart disease 9.9
46 rhizomelic chondrodysplasia punctata, type 2 9.9 HAMP HFE
47 arthritis 9.9
48 hemolytic anemia 9.9
49 paroxysmal nocturnal hemoglobinuria 9.9
50 hemoglobinuria 9.9

Graphical network of the top 20 diseases related to Hemosiderosis:



Diseases related to Hemosiderosis

Symptoms & Phenotypes for Hemosiderosis

MGI Mouse Phenotypes related to Hemosiderosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.5 SLC40A1 TF TFRC CP EPO HFE
2 liver/biliary system MP:0005370 9.1 SLC40A1 TFRC CP EPO HFE SLC11A2

Drugs & Therapeutics for Hemosiderosis

Drugs for Hemosiderosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 164)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Deferiprone Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 30652-11-0 2972
2
Deferoxamine Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 70-51-9 2973
3
Iron Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 7439-89-6 23925
4
Omeprazole Approved, Investigational, Vet_approved Phase 4 73590-58-6 4594
5
Deferasirox Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 201530-41-8 5493381
6
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
7
Metformin Approved Phase 4 657-24-9 14219 4091
8
Vitamin C Approved, Nutraceutical Phase 4 50-81-7 5785 54670067
9 Chelating Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
10 Iron Chelating Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
11 Antacids Phase 4,Not Applicable
12 Anti-Ulcer Agents Phase 4,Not Applicable
13 Gastrointestinal Agents Phase 4,Not Applicable
14 Proton Pump Inhibitors Phase 4,Not Applicable
15 Micronutrients Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
16 Trace Elements Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
17 Liver Extracts Phase 4,Phase 2,Phase 3,Not Applicable
18 Pharmaceutical Solutions Phase 4,Phase 2,Phase 3
19 Antioxidants Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
20 Protective Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
21 Antifungal Agents Phase 4
22 Anti-Infective Agents Phase 4,Phase 2,Not Applicable
23 Antirheumatic Agents Phase 4,Phase 2,Not Applicable
24 Calcineurin Inhibitors Phase 4
25 Cyclosporins Phase 4
26 Dermatologic Agents Phase 4
27 Immunosuppressive Agents Phase 4,Phase 2,Not Applicable
28 Hypoglycemic Agents Phase 4,Not Applicable
29 Trichostatin A Phase 4
30 Vitamins Phase 4,Phase 2,Not Applicable
31 Antilymphocyte Serum Phase 4
32 Iron Supplement Nutraceutical Phase 4,Phase 3,Not Applicable
33
Zinc Approved, Investigational Phase 3,Phase 1,Not Applicable 7440-66-6 23994
34
Darbepoetin alfa Approved, Investigational Phase 2, Phase 3,Phase 3 11096-26-7, 209810-58-2
35
Lenograstim Approved, Investigational Phase 2, Phase 3 135968-09-1
36
Amlodipine Approved Phase 3,Phase 2,Not Applicable 88150-42-9 2162
37
Hydroxyurea Approved Phase 3,Phase 2,Phase 1 127-07-1 3657
38
Benzocaine Approved, Investigational Phase 3,Not Applicable 1994-09-7, 94-09-7 2337
39 Orange Approved, Nutraceutical Phase 3,Phase 2
40 tannic acid Approved, Nutraceutical Phase 3,Not Applicable
41 Adjuvants, Immunologic Phase 2, Phase 3,Not Applicable
42 Epoetin alfa Phase 2, Phase 3,Phase 3,Not Applicable 113427-24-0
43 Hematinics Phase 2, Phase 3,Phase 3,Not Applicable
44 Antihypertensive Agents Phase 3,Phase 2,Not Applicable
45 calcium channel blockers Phase 3,Phase 2,Phase 1,Not Applicable
46 Calcium, Dietary Phase 3,Phase 2,Phase 1,Not Applicable
47 Vasodilator Agents Phase 3,Phase 2,Phase 1,Not Applicable
48 Ferric Compounds Phase 2, Phase 3
49 Ferric oxide, saccharated Phase 2, Phase 3
50 Nucleic Acid Synthesis Inhibitors Phase 3,Phase 2

Interventional clinical trials:

(show top 50) (show all 257)
# Name Status NCT ID Phase Drugs
1 Combined Chelation Treatment With Deferiprone and Deferoxamine in Thalassemia Major Unknown status NCT00103753 Phase 4 deferiprone
2 Evaluation of the Efficacy in Decreasing Iron Absorption in Patients With Congenital Dyserythropoietic Anemia Type I by Treatment With LOSEC Unknown status NCT01795794 Phase 4 omeprazole
3 Extension Study of the Efficacy and Safety of Deferasirox Treatment in Beta-thalassemia Patients With Transfusional Hemosiderosis (Study Amended to 2-year Duration) Completed NCT00171301 Phase 4 Deferasirox
4 Palatability and Tolerability of Deferasirox Taken With Meals, With Different Liquids or Crushed and Added to Food Completed NCT00845871 Phase 4 deferasirox:
5 Efficacy Study in Removing Excess Iron From the Heart Completed NCT00105495 Phase 4 Ferriprox (deferiprone);Desferal (deferoxamine)
6 Safety and Efficacy of Desferasirox in Chinese Patients With Iron Overload and Aplastic Anemia Completed NCT01546415 Phase 4 Desferasirox
7 Efficacy and Safety of Oral Deferasirox (20 mg/kg/d) in Pts 3 to 6 Months After Allogeneic Hematopoietic Cell Transplantation Who Present With Iron Overload Completed NCT00654589 Phase 4 Deferasirox
8 Efficacy and Safety of Deferasirox in Patients With Myelodysplastic Syndrome and Transfusion-dependent Iron Overload Completed NCT00481143 Phase 4 ICL670/Deferasirox
9 An Epidemiological Study to Assess Iron Overload Using MRI in Patients With Transfusional Siderosis (TIMES Study) Completed NCT01736540 Phase 4
10 Open-Label Single-Arm Pilot Study in Adult Allogeneic Hematopoietic Stem Cell Transplant Recipients With Transfusional Iron Overload Completed NCT01335035 Phase 4 deferasirox
11 This Study Will Evaluate Efficacy and Safety of Deferasirox in Patients With Myelodysplastic Syndromes (MDS), Thalassemia and Rare Anemia Types Having Transfusion-induced Iron Overload. Completed NCT01250951 Phase 4 Deferasirox
12 Evaluation the Effect of Exjade on Oxidative Stress in Low Risk Myelodysplastic Syndrome Patients With Iron Over Load Completed NCT00452660 Phase 4 Exjade
13 Combo Chelation Trial Completed NCT00901199 Phase 4 Combo Chelation with Deferasirox (Exjade) and Desferal (DFO)
14 Evaluating the Efficacy of Deferasirox in Transfusion Dependent Chronic Anaemias (Myelodysplastic Syndrome, Beta-thalassaemia Patients) With Chronic Iron Overload Completed NCT00564941 Phase 4 deferasirox
15 Post Hematopoietic Stem Cell Transplantation Completed NCT01610297 Phase 4 ICL670
16 Safety and Efficacy of Exjade in the Treatment of Transfusion-dependent Iron Overload in Aplastic Anemia Patients Completed NCT01818726 Phase 4 ICL670A and standard immunosupressive therapy (Cyclosporine A);Immunosupressive therapy (Cyclosporine A)
17 Magnetic Resonance Imaging (MRI) Assessments of the Heart and Liver Iron Load in Patients With Transfusion Induced Iron Overload Completed NCT00673608 Phase 4 deferasirox
18 Intensive Combined Chelation Therapy for Iron-Induced Cardiac Disease in Patients With Thalassemia Major Completed NCT00800761 Phase 4 Deferoxamine and Deferiprone;Deferoxamine
19 Pilot Study for Patients With Poor Response to Deferasirox Completed NCT00749515 Phase 4 Deferoxamine;Deferasirox
20 Treatment of Iron Deficiency Anaemia in Inflammatory Bowel Disease With Ferrous Sulphate Completed NCT01991314 Phase 4 Ferrous sulphate
21 Safety Study of Crushed Deferasirox Film Coated Tablets in Pediatric Patients With Transfusional Hemosiderosis Recruiting NCT03372083 Phase 4 Deferasirox
22 The Potential Hepatoprotective Effect of Metformin in Patients With Beta Thalassemia Major Recruiting NCT02984475 Phase 4 Metformin
23 Efficacy and Safety of Ferriprox® in Patients With Sickle Cell Disease or Other Anemias Recruiting NCT02041299 Phase 4 Deferiprone;Deferoxamine
24 Efficacy and Safety Study of Deferasirox in Patients With Non-transfusion Dependent Thalassemia Active, not recruiting NCT01709838 Phase 4 ICL670 deferasirox
25 Long-term Safety and Efficacy of Ferriprox® in Iron Overloaded Patients With Sickle Cell Disease or Other Anemias Enrolling by invitation NCT02443545 Phase 4 Deferiprone
26 Ascorbic Acid Administration in the Treatment of Anemia in Chronic Hemodialysed Patients Not yet recruiting NCT02225886 Phase 4 Ascorbic Acid
27 Eltrombopag in Children With Idiopathic Aplastic Anemia Not yet recruiting NCT03243656 Phase 4 Eltrombopag
28 Myelodysplastic Syndrome (MDS) Gastrointestinal (GI) Tolerability Study Terminated NCT01326845 Phase 4 Deferasirox
29 An Open Label Study to Evaluate the Pharmacokinetics, Safety, Tolerability and Efficacy of Deferasirox Administered to Chinese Patients With β-thalassemia Major Aged From 2 to Less Than 6 Years Old Withdrawn NCT01724138 Phase 4 Deferasirox
30 Effect of Deferasirox on Endocrine Complications in Subjects With Transfusion Dependent Thalassemia Withdrawn NCT02069886 Phase 4 deferasirox
31 Study Of Efficacy,Safety of Combined Deferasirox and Deferiprone Versus Combined Deferiprone and Desferal In Conditions of Iron Overload Unknown status NCT01511848 Phase 2, Phase 3 DFP (ferriprox) and deferasirox (ICL 670);DFP, DFO
32 Phlebotomy and Lifestyle and Diet Advices vs Lifestyle and Diet Advices Only in Patients With Dysmetabolic Liversiderosis Unknown status NCT01045525 Phase 3
33 Safety of Various Mode of Delivery of Iron Supplement on Iron Toxicity Markers in Preschool Children Unknown status NCT00980421 Phase 3
34 Therapeutic Effects of Silymarin in Patients With B-thalassemia Major Unknown status NCT00999349 Phase 2, Phase 3 Silymarin (LEGALON);Placebo
35 Erythrocytapheresis Versus Phlebotomy as Maintenance Therapy in Hereditary Hemochromatosis (HH) Patients Unknown status NCT01398644 Phase 3
36 Erythropoietin (EPO) and Granulocyte-Colony Stimulating Factor (G-CSF) for Low-Risk Myelodysplastic Syndromes (MDS) Unknown status NCT00234143 Phase 2, Phase 3 Darbepoetin
37 Safety, Tolerability, and Efficacy of Deferasirox in MDS Completed NCT00469560 Phase 3 Deferasirox
38 A Study of Long-term Treatment With Deferasirox in Patients With Beta-thalassemia and Transfusional Hemosiderosis Completed NCT00171171 Phase 3 deferasirox
39 Safety & Efficacy of ICL670 vs. Deferoxamine in Beta-thalassemia Patients With Iron Overload Due to Blood Transfusions Completed NCT00061750 Phase 3 ICL670;deferoxamine
40 Safety and Efficacy of Deferasirox in Patients With Transfusion Dependent Iron Overload - a Non-comparative Extension Study Completed NCT01033747 Phase 2, Phase 3 Deferasirox;Deferasirox
41 Amlodipine in the Prevention and Treatment of Iron Overload in Patients With Thalassemia Major Completed NCT01395199 Phase 3 Amlodipine
42 A Study Assessing the Efficacy and Safety of Deferasirox in Patients With Transfusion-dependent Iron Overload Completed NCT00171821 Phase 3 Deferasirox
43 An Extension Study of Iron Chelation Therapy With Deferasirox (ICL670) in β-thalassemia Patients With Transfusional Iron Overload Completed NCT00171210 Phase 3 Deferasirox
44 Safety and Efficacy of Ferriprox™ (Deferiprone) Oral Solution in Iron Overloaded Pediatric Patients Completed NCT00529152 Phase 3 Deferiprone
45 Amlodipine Use in the Prevention and Treatment of Iron Overload in Patients With Thalassemia Major Completed NCT01125254 Phase 2, Phase 3 Amlodipine
46 Expanded Access of Deferasirox to Patients With Congenital Disorders of Red Blood Cells and Chronic Iron Overload Completed NCT00235391 Phase 3 Deferasirox
47 Efficacy and Safety of the Iron Chelator Deferiprone in Parkinson's Disease Completed NCT00943748 Phase 2, Phase 3 deferiprone;placebo
48 Efficacy/Safety Study of Deferiprone Compared to Deferasirox in Paediatric Patients Completed NCT01825512 Phase 3 Deferiprone;Deferasirox
49 Haemochromatosis:Phlebotomy Versus Erythrocytapheresis Therapy Completed NCT00202436 Phase 3
50 Erythropoietin (Epo) and Venofer Trial After Autologous Hematopoietic Stem Cell Transplantation (HSCT) Completed NCT00557817 Phase 2, Phase 3 Darbepoetin alpha (Aranesp);Iron saccharate (Venofer)

Search NIH Clinical Center for Hemosiderosis

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Cochrane evidence based reviews: hemosiderosis

Genetic Tests for Hemosiderosis

Anatomical Context for Hemosiderosis

MalaCards organs/tissues related to Hemosiderosis:

41
Liver, Heart, Bone, Bone Marrow, Kidney, Brain, Lung

Publications for Hemosiderosis

Articles related to Hemosiderosis:

(show top 50) (show all 1155)
# Title Authors Year
1
Liposteroid and methylprednisolone combination therapy for a case of idiopathic lung hemosiderosis. ( 29977750 )
2018
2
Inhibition of heme oxygenase ameliorates anemia and reduces iron overload in a I^-thalassemia mouse model. ( 29180398 )
2018
3
Comparison of the effects of deferasirox, deferoxamine, and combination of deferasirox and deferoxamine on an aplastic anemia mouse model complicated with iron overload. ( 29760547 )
2018
4
An investigation of the effects of curcumin on iron overload, hepcidin level, and liver function in I^-thalassemia major patients: A double-blind randomized controlled clinical trial. ( 29806132 )
2018
5
Renal hemosiderosis with uncontrolled hypertension. ( 29470742 )
2018
6
Pituitary in black-hypopituitarism secondary to hemosiderosis. ( 29549596 )
2018
7
Iron overload in transfusion-dependent survivors of hemoglobin Bart's hydrops fetalis. ( 29371322 )
2018
8
Iron overload impairs normal hematopoietic stem and progenitor cells through reactive oxygen species and shortens survival in myelodysplastic syndrome mice. ( 29903757 )
2018
9
Increased levels of advanced glycation end products positively correlate with iron overload and oxidative stress markers in patients with I^-thalassemia major. ( 29318368 )
2018
10
Hereditary hypochromic microcytic anemia associated with loss-of-function DMT1 gene mutations and absence of liver iron overload. ( 29178181 )
2018
11
Sickle Cell Disease Complicated by Iron Overload: An Under-Recognized Risk Factor for Vibrio vulnificus Infection. ( 29734168 )
2018
12
Respiratory Distress and Severe Anemia in a Child With Idiopathic Pulmonary Hemosiderosis. ( 29683951 )
2018
13
Fetal-onset Congenital Dyserythropoietic Anemia Type 1 due to a Novel Mutation With Severe Iron Overload and Severe Cholestatic Liver Disease. ( 29668551 )
2018
14
The Correlation of Cardiac and Hepatic Hemosiderosis as Measured by T2*MRI Technique with Ferritin Levels and Hemochromatosis Gene Mutations in Iranian Patients with Beta Thalassemia Major. ( 29467999 )
2018
15
The role of T2*-weighted gradient echo in the diagnosis of tumefactive intrahepatic extramedullary hematopoiesis in myelodysplastic syndrome and diffuse hepatic iron overload: a case report and review of the literature. ( 29332607 )
2018
16
A composite mouse model of aplastic anemia complicated with iron overload. ( 29434729 )
2018
17
Iron-Overload triggers ADAM-17 mediated inflammation in Severe Alcoholic Hepatitis. ( 29980709 )
2018
18
Pulmonary hemosiderosis in children with Down syndrome: a national experience. ( 29678139 )
2018
19
Long-term safety and efficacy of deferasirox in young pediatric patients with transfusional hemosiderosis: Results from a 5-year observational study (ENTRUST). ( 28296163 )
2017
20
SERUM FERRITIN CONCENTRATION IS NOT A RELIABLE BIOMARKER OF IRON OVERLOAD DISORDER PROGRESSION OR HEMOCHROMATOSIS IN THE SUMATRAN RHINOCEROS (DICERORHINUS SUMATRENSIS). ( 28920821 )
2017
21
Epilepsy caused by superficial hemosiderosis of the central nervous system. ( 29105005 )
2017
22
Erythroid response during iron chelation therapy in a cohort of patients affected by hematologic malignancies and aplastic anemia with transfusion requirement and iron overload: a FISM Italian multicenter retrospective study. ( 28482720 )
2017
23
Observational Monitoring of Patients with Aplastic Anemia and Low/Intermediate-1 Risk of Myelodysplastic Syndromes Complicated with Iron Overload. ( 28866669 )
2017
24
Iron overload exacerbates age-associated cardiac hypertrophy in a mouse model of hemochromatosis. ( 28720890 )
2017
25
Myocardial deformation in iron overload cardiomyopathy: speckle tracking imaging in a beta-thalassemia major population. ( 28456904 )
2017
26
Soluble form of transferrin receptor-1 level is associated with the age at first diagnosis and the risk of therapeutic intervention and iron overloading in patients with non-transfusion-dependent thalassemia. ( 28707012 )
2017
27
Impact of iatrogenic iron overload on the course of hepatitis C in the dialysis population: A plea for caution. ( 28332306 )
2017
28
Iron overload and altered iron metabolism in ovarian cancer. ( 28095368 )
2017
29
Auricular Hemosiderosis in a Diabetic Patient. ( 28859747 )
2017
30
The critical role of Nramp1 in degrading I+-synuclein oligomers in microglia under iron overload condition. ( 28476637 )
2017
31
Iron overload promotes erythroid apoptosis through regulating HIF-1a/ROS signaling pathway in patients with myelodysplastic syndrome. ( 28460338 )
2017
32
Idiopathic Pulmonary Hemosiderosis Mimicking Iron Deficiency Anemia: A Delayed Diagnosis? ( 28670434 )
2017
33
Identification of new BMP6 pro-peptide mutations in patients with iron overload. ( 28335084 )
2017
34
Residual erythropoiesis protects against myocardial hemosiderosis in transfusion-dependent thalassemia by lowering labile plasma iron via transient generation of apotransferrin. ( 28642302 )
2017
35
Idiopathic Pulmonary Hemosiderosis in a Child with Recurrent Macrophage Activation Syndrome Secondary to Systemic Juvenile Idiopathic Arthritis. ( 28251009 )
2017
36
HFE gene mutation and iron overload in Egyptian pediatric acute lymphoblastic leukemia survivors: a single-center study. ( 28211293 )
2017
37
Corticosteroid in combination with leflunomide and mesenchymal stem cells for treatment of pediatric idiopathic pulmonary hemosiderosis. ( 28158572 )
2017
38
Intracellular iron overload leading to DNA damage of lymphocytes and immune dysfunction in thalassemia major patients. ( 28815805 )
2017
39
Renal Hemosiderosis among Iranian Transfusion Dependent I^-Thalassemia Major Patients. ( 28875008 )
2017
40
Iron Overload in the Liver of 2 Children: Nonalcoholic Steatohepatitis and Juvenile Hemochromatosis. ( 28067690 )
2017
41
Methylprednisolone pulse therapy rescued life-threatening pulmonary hemorrhage due to idiopathic pulmonary hemosiderosis. ( 28784257 )
2017
42
Idiopathic pulmonary hemosiderosis: Hemorrhagic flare after 6 years of remission. ( 28844597 )
2017
43
Overcoming barriers to treating iron overload in patients with lower-risk myelodysplastic syndrome. ( 28807236 )
2017
44
Hemochromatosis Protein (HFE) Knockout Mice As a Novel Model of Hemochromatosis: Implications for Study and Management of Iron-Overload Cardiomyopathy. ( 28558947 )
2017
45
Correlation of Pancreatic Iron Overload Measured by T2*-Weighted Magnetic Resonance Imaging in Diabetic Patients with I^-Thalassemia Major. ( 28762844 )
2017
46
Screening for hemosiderosis in patients receiving multiple red blood cell transfusions. ( 28129458 )
2017
47
Clinical and Laboratory Associations with Persistent Hyperferritinemia in 373 Black Hemochromatosis and Iron Overload Screening Study Participants. ( 28809726 )
2017
48
Welder's pulmonary hemosiderosis associated with systemic iron overload following exacerbation of acute adult T-cell leukemia/lymphoma. ( 28883221 )
2017
49
The hepatocyte-specific HNF4I+/miR-122 pathway contributes to iron overload-mediated hepatic inflammation. ( 28655781 )
2017
50
A Case of Idiopathic Pulmonary Hemosiderosis Presenting With Signs and Symptoms Mimicking Hemolytic Anemia. ( 27918350 )
2017

Variations for Hemosiderosis

ClinVar genetic disease variations for Hemosiderosis:

6
(show all 48)
# Gene Variation Type Significance SNP ID Assembly Location
1 BEST1; FTH1 NM_004183.3(BEST1): c.1410G> A (p.Thr470=) single nucleotide variant Benign rs149698 GRCh37 Chromosome 11, 61730036: 61730036
2 BEST1; FTH1 NM_004183.3(BEST1): c.1410G> A (p.Thr470=) single nucleotide variant Benign rs149698 GRCh38 Chromosome 11, 61962564: 61962564
3 BEST1; FTH1 NM_004183.3(BEST1): c.1474G> A (p.Val492Ile) single nucleotide variant Benign/Likely benign rs111326315 GRCh37 Chromosome 11, 61730100: 61730100
4 BEST1; FTH1 NM_004183.3(BEST1): c.1474G> A (p.Val492Ile) single nucleotide variant Benign/Likely benign rs111326315 GRCh38 Chromosome 11, 61962628: 61962628
5 BEST1; FTH1 NM_004183.3(BEST1): c.1064G> A (p.Arg355His) single nucleotide variant Likely benign rs368356148 GRCh37 Chromosome 11, 61727479: 61727479
6 BEST1; FTH1 NM_004183.3(BEST1): c.1064G> A (p.Arg355His) single nucleotide variant Likely benign rs368356148 GRCh38 Chromosome 11, 61960007: 61960007
7 BEST1; FTH1 NM_004183.3(BEST1): c.1070C> T (p.Ala357Val) single nucleotide variant Likely benign rs17854138 GRCh37 Chromosome 11, 61727485: 61727485
8 BEST1; FTH1 NM_004183.3(BEST1): c.1070C> T (p.Ala357Val) single nucleotide variant Likely benign rs17854138 GRCh38 Chromosome 11, 61960013: 61960013
9 FTH1 NM_002032.2(FTH1): c.-204A> G single nucleotide variant Uncertain significance rs886048433 GRCh38 Chromosome 11, 61967629: 61967629
10 FTH1 NM_002032.2(FTH1): c.-204A> G single nucleotide variant Uncertain significance rs886048433 GRCh37 Chromosome 11, 61735101: 61735101
11 BEST1; FTH1 NM_004183.3(BEST1): c.1143C> T (p.Asp381=) single nucleotide variant Likely benign rs112199774 GRCh37 Chromosome 11, 61729769: 61729769
12 BEST1; FTH1 NM_004183.3(BEST1): c.1143C> T (p.Asp381=) single nucleotide variant Likely benign rs112199774 GRCh38 Chromosome 11, 61962297: 61962297
13 BEST1; FTH1 NM_004183.3(BEST1): c.*133T> C single nucleotide variant Likely benign rs1801621 GRCh37 Chromosome 11, 61731727: 61731727
14 BEST1; FTH1 NM_004183.3(BEST1): c.*133T> C single nucleotide variant Likely benign rs1801621 GRCh38 Chromosome 11, 61964255: 61964255
15 FTH1 NM_002032.2(FTH1): c.208C> T (p.Leu70=) single nucleotide variant Uncertain significance rs886048432 GRCh37 Chromosome 11, 61732894: 61732894
16 FTH1 NM_002032.2(FTH1): c.208C> T (p.Leu70=) single nucleotide variant Uncertain significance rs886048432 GRCh38 Chromosome 11, 61965422: 61965422
17 FTH1 NM_002032.2(FTH1): c.-231G> A single nucleotide variant Uncertain significance rs886048434 GRCh38 Chromosome 11, 61967656: 61967656
18 FTH1 NM_002032.2(FTH1): c.-231G> A single nucleotide variant Uncertain significance rs886048434 GRCh37 Chromosome 11, 61735128: 61735128
19 FTH1 NM_002032.2(FTH1): c.*312A> G single nucleotide variant Uncertain significance rs756884770 GRCh37 Chromosome 11, 61731887: 61731887
20 FTH1 NM_002032.2(FTH1): c.*312A> G single nucleotide variant Uncertain significance rs756884770 GRCh38 Chromosome 11, 61964415: 61964415
21 BEST1; FTH1 NM_002032.2(FTH1): c.*222C> T single nucleotide variant Benign rs17156609 GRCh37 Chromosome 11, 61731977: 61731977
22 BEST1; FTH1 NM_002032.2(FTH1): c.*222C> T single nucleotide variant Benign rs17156609 GRCh38 Chromosome 11, 61964505: 61964505
23 FTH1 NM_002032.2(FTH1): c.*165T> C single nucleotide variant Uncertain significance rs886048430 GRCh37 Chromosome 11, 61732034: 61732034
24 FTH1 NM_002032.2(FTH1): c.*165T> C single nucleotide variant Uncertain significance rs886048430 GRCh38 Chromosome 11, 61964562: 61964562
25 FTH1 NM_002032.2(FTH1): c.388-5T> C single nucleotide variant Uncertain significance rs753621558 GRCh37 Chromosome 11, 61732368: 61732368
26 FTH1 NM_002032.2(FTH1): c.388-5T> C single nucleotide variant Uncertain significance rs753621558 GRCh38 Chromosome 11, 61964896: 61964896
27 BEST1; FTH1 NM_002032.2(FTH1): c.387+12A> G single nucleotide variant Likely benign rs201120647 GRCh37 Chromosome 11, 61732447: 61732447
28 BEST1; FTH1 NM_002032.2(FTH1): c.387+12A> G single nucleotide variant Likely benign rs201120647 GRCh38 Chromosome 11, 61964975: 61964975
29 BEST1; FTH1 NM_002032.2(FTH1): c.161A> G (p.Lys54Arg) single nucleotide variant Likely benign rs186448909 GRCh37 Chromosome 11, 61732941: 61732941
30 BEST1; FTH1 NM_002032.2(FTH1): c.161A> G (p.Lys54Arg) single nucleotide variant Likely benign rs186448909 GRCh38 Chromosome 11, 61965469: 61965469
31 BEST1; FTH1 NM_004183.3(BEST1): c.1519T> C (p.Ser507Pro) single nucleotide variant Likely benign rs141071579 GRCh37 Chromosome 11, 61730145: 61730145
32 BEST1; FTH1 NM_004183.3(BEST1): c.1519T> C (p.Ser507Pro) single nucleotide variant Likely benign rs141071579 GRCh38 Chromosome 11, 61962673: 61962673
33 BEST1; FTH1 NG_008346.1: g.8323A> G single nucleotide variant Likely benign rs1801327 GRCh37 Chromosome 11, 61731810: 61731810
34 BEST1; FTH1 NG_008346.1: g.8323A> G single nucleotide variant Likely benign rs1801327 GRCh38 Chromosome 11, 61964338: 61964338
35 FTH1 NM_002032.2(FTH1): c.*385T> G single nucleotide variant Uncertain significance rs886048429 GRCh37 Chromosome 11, 61731814: 61731814
36 FTH1 NM_002032.2(FTH1): c.*385T> G single nucleotide variant Uncertain significance rs886048429 GRCh38 Chromosome 11, 61964342: 61964342
37 BEST1; FTH1 NG_008346.1: g.8253G> A single nucleotide variant Benign rs75281081 GRCh37 Chromosome 11, 61731880: 61731880
38 BEST1; FTH1 NG_008346.1: g.8253G> A single nucleotide variant Benign rs75281081 GRCh38 Chromosome 11, 61964408: 61964408
39 FTH1 NM_002032.2(FTH1): c.413A> T (p.Tyr138Phe) single nucleotide variant Uncertain significance rs886048431 GRCh37 Chromosome 11, 61732338: 61732338
40 FTH1 NM_002032.2(FTH1): c.413A> T (p.Tyr138Phe) single nucleotide variant Uncertain significance rs886048431 GRCh38 Chromosome 11, 61964866: 61964866
41 FTH1 NM_002032.2(FTH1): c.-2C> T single nucleotide variant Uncertain significance rs751983239 GRCh37 Chromosome 11, 61734899: 61734899
42 FTH1 NM_002032.2(FTH1): c.-2C> T single nucleotide variant Uncertain significance rs751983239 GRCh38 Chromosome 11, 61967427: 61967427
43 FTH1 NM_002032.2(FTH1): c.-221G> A single nucleotide variant Uncertain significance rs763318260 GRCh38 Chromosome 11, 61967646: 61967646
44 FTH1 NM_002032.2(FTH1): c.-221G> A single nucleotide variant Uncertain significance rs763318260 GRCh37 Chromosome 11, 61735118: 61735118
45 BEST1; FTH1 NM_004183.3(BEST1): c.*24C> T single nucleotide variant Likely benign rs142482048 GRCh37 Chromosome 11, 61731618: 61731618
46 BEST1; FTH1 NM_004183.3(BEST1): c.*24C> T single nucleotide variant Likely benign rs142482048 GRCh38 Chromosome 11, 61964146: 61964146
47 BEST1; FTH1 NG_009033.1: g.19448T> C single nucleotide variant Likely benign rs565138844 GRCh37 Chromosome 11, 61731803: 61731803
48 BEST1; FTH1 NG_009033.1: g.19448T> C single nucleotide variant Likely benign rs565138844 GRCh38 Chromosome 11, 61964331: 61964331

Expression for Hemosiderosis

Search GEO for disease gene expression data for Hemosiderosis.

Pathways for Hemosiderosis

Pathways related to Hemosiderosis according to GeneCards Suite gene sharing:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.01 CP FTL SLC11A2 SLC40A1 TF TFRC
2
Show member pathways
12.08 CP FTL SLC11A2 SLC40A1 TF TFRC
3 11.63 EPO TF TFRC
4
Show member pathways
11.59 CP SLC11A2 SLC40A1
5 11.44 CP EPO TF TFRC
6 11.27 FTL SLC11A2 SLC40A1 TF
7 11.18 EPO TF
8 11.01 EPO SLC11A2
9 10.7 CP FTL SLC11A2 SLC40A1 TF TFRC
10 10.43 HAMP SLC11A2 SLC40A1 TF TFRC
11 10.21 HAMP HFE

GO Terms for Hemosiderosis

Cellular components related to Hemosiderosis according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.97 CP EPO FTL HAMP TF TFRC
2 extracellular space GO:0005615 9.8 CP EPO GPT HAMP HFE TF
3 cytoplasmic vesicle GO:0031410 9.78 HFE SLC11A2 TF TFRC
4 perinuclear region of cytoplasm GO:0048471 9.76 HFE SLC11A2 TF TFRC
5 cell surface GO:0009986 9.71 EPO SLC11A2 TF TFRC
6 early endosome GO:0005769 9.62 HFE SLC11A2 TF TFRC
7 endosome membrane GO:0010008 9.61 SLC11A2 TF TFRC
8 clathrin-coated pit GO:0005905 9.54 TF TFRC
9 blood microparticle GO:0072562 9.54 CP TF TFRC
10 extracellular vesicle GO:1903561 9.52 SLC11A2 TFRC
11 clathrin-coated vesicle membrane GO:0030665 9.51 TF TFRC
12 recycling endosome GO:0055037 9.46 HFE SLC11A2 TF TFRC
13 basal part of cell GO:0045178 9.13 HFE SLC11A2 TF
14 HFE-transferrin receptor complex GO:1990712 8.8 HFE TF TFRC

Biological processes related to Hemosiderosis according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.88 CP HFE SLC11A2 SLC40A1 TF
2 acute-phase response GO:0006953 9.58 EPO HAMP HFE
3 iron ion transport GO:0006826 9.56 FTL SLC11A2 SLC40A1 TF
4 liver regeneration GO:0097421 9.55 HAMP HFE
5 positive regulation of receptor-mediated endocytosis GO:0048260 9.54 HFE TF
6 transferrin transport GO:0033572 9.54 HFE TF TFRC
7 response to vitamin A GO:0033189 9.52 EPO HAMP
8 copper ion transport GO:0006825 9.51 CP SLC11A2
9 response to iron ion GO:0010039 9.5 HAMP HFE SLC11A2
10 cellular response to iron ion GO:0071281 9.49 HFE TF
11 regulation of iron ion import GO:1900390 9.46 HFE TF
12 multicellular organismal iron ion homeostasis GO:0060586 9.46 HAMP HFE SLC11A2 SLC40A1
13 response to iron ion starvation GO:1990641 9.43 HAMP HFE
14 iron ion homeostasis GO:0055072 9.35 FTL HFE SLC11A2 SLC40A1 TF
15 cellular iron ion homeostasis GO:0006879 9.23 CP FTL HAMP HFE SLC11A2 SLC40A1

Molecular functions related to Hemosiderosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ferric iron binding GO:0008199 9.26 FTL TF
2 transferrin receptor binding GO:1990459 9.16 HFE TF
3 iron ion transmembrane transporter activity GO:0005381 8.96 SLC11A2 SLC40A1
4 ferrous iron transmembrane transporter activity GO:0015093 8.62 SLC11A2 SLC40A1

Sources for Hemosiderosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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