MCID: HMS001
MIFTS: 52

Hemosiderosis

Categories: Metabolic diseases, Rare diseases

Aliases & Classifications for Hemosiderosis

MalaCards integrated aliases for Hemosiderosis:

Name: Hemosiderosis 12 77 54 56 45 15 74
Haemosiderosis 12
Iron Overload 74

Classifications:



External Ids:

Disease Ontology 12 DOID:12119
MeSH 45 D006486
NCIt 51 C82892
SNOMED-CT 69 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 haemosiderosis, is related to aceruloplasminemia and atransferrinemia. 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 homeostasis/metabolism

Wikipedia : 77 Hemosiderosis is a form of iron overload disorder resulting in the accumulation of... more...

Related Diseases for Hemosiderosis

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

(show top 50) (show all 188)
# Related Disease Score Top Affiliating Genes
1 aceruloplasminemia 31.7 CP FTL HAMP HFE TF
2 atransferrinemia 30.5 ALAS2 CP HAMP HFE SLC11A2 SLC40A1
3 refractory anemia 30.1 ALAS2 EPO
4 thalassemia 30.0 EPO HFE TF TFRC
5 liver cirrhosis 29.8 GPT HFE TF
6 beta-thalassemia 29.8 EPO HFE TF TFRC
7 hemoglobin h disease 29.7 EPO TF TFRC
8 liver disease 29.6 CP GPT HFE TF
9 porphyria 29.6 ALAS2 HFE TF
10 siderosis 29.3 HFE SLC40A1 TF TFRC
11 porphyria cutanea tarda 29.1 HAMP HFE TF TFRC
12 iron metabolism disease 29.0 CP EPO HFE SLC11A2 SLC40A1 TF
13 iron deficiency anemia 28.8 EPO HAMP HFE SLC11A2 SLC40A1 TF
14 microcytic anemia 28.7 ALAS2 EPO SLC11A2 TF TFRC
15 hemochromatosis, type 1 28.0 ALAS2 CP FTL HAMP HFE SLC11A2
16 deficiency anemia 27.5 ALAS2 CP EPO FTL HAMP HFE
17 pulmonary hemosiderosis 12.7
18 secondary pulmonary hemosiderosis 12.2
19 hemosiderosis, pulmonary, with deficiency of gamma-a globulin 12.1
20 superficial siderosis 11.8
21 gracile syndrome 11.3
22 juvenile hereditary hemochromatosis 10.4
23 celiac disease 1 10.3
24 ancylostomiasis 10.2 CP TF
25 nonalcoholic steatohepatitis 10.2 GPT HFE
26 kwashiorkor 10.2 GPT TF
27 fascioliasis 10.2 CP GPT
28 acquired polycythemia 10.2 EPO TF
29 glomerulonephritis 10.2
30 plethora of newborn 10.1 EPO TF
31 hypochromic microcytic anemia 10.1 CP SLC11A2 TF
32 eales disease 10.1 CP TF
33 heart disease 10.1
34 protein-energy malnutrition 10.1 CP GPT TF
35 pure red-cell aplasia 10.1 EPO TF
36 myocarditis 10.1
37 arthritis 10.1
38 hepatitis 10.1
39 paroxysmal nocturnal hemoglobinuria 10.1
40 hemoglobinuria 10.1
41 analbuminemia 10.0 EPO GPT TF
42 vitamin b12 deficiency 10.0 EPO GPT TF
43 acute porphyria 10.0 ALAS2 HFE
44 cerebral amyloid angiopathy, cst3-related 10.0
45 sickle cell anemia 10.0
46 hemolytic anemia 10.0
47 rheumatic heart disease 10.0
48 mitral valve stenosis 10.0
49 angiomatous meningioma 10.0 TF TFRC
50 fetal erythroblastosis 10.0 EPO TFRC

Graphical network of the top 20 diseases related to Hemosiderosis:



Diseases related to Hemosiderosis

Symptoms & Phenotypes for Hemosiderosis

MGI Mouse Phenotypes related to Hemosiderosis:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.76 ALAS2 CP EPO HFE SLC11A2 SLC40A1
2 homeostasis/metabolism MP:0005376 9.56 ALAS2 CP EPO HFE SLC11A2 SLC40A1
3 liver/biliary system MP:0005370 9.1 CP EPO HFE SLC11A2 SLC40A1 TFRC

Drugs & Therapeutics for Hemosiderosis

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

(show top 50) (show all 171)
# 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, Experimental Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1 7439-89-6, 15438-31-0 27284 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,Early Phase 1 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 54670067 5785
9 Chelating Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
10 Iron Chelating Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
11 Siderophores Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
12 Antacids Phase 4,Not Applicable
13 Anti-Ulcer Agents Phase 4,Not Applicable
14 Gastrointestinal Agents Phase 4,Not Applicable
15 Proton Pump Inhibitors Phase 4,Not Applicable
16 Trace Elements Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
17 Micronutrients Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
18 Nutrients Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
19 Liver Extracts Phase 4,Phase 2,Phase 3,Not Applicable
20 Anti-Infective Agents Phase 4,Phase 2,Not Applicable
21 Immunologic Factors Phase 4,Phase 2,Phase 3,Not Applicable
22 Iron Supplement Phase 4,Phase 3,Not Applicable
23 Pharmaceutical Solutions Phase 4,Phase 2,Phase 3
24 Antioxidants Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
25 Protective Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
26 Vitamins Phase 4,Phase 2,Not Applicable
27 Dermatologic Agents Phase 4
28 Cyclosporins Phase 4
29 Antirheumatic Agents Phase 4,Phase 2,Not Applicable
30 Calcineurin Inhibitors Phase 4
31 Immunosuppressive Agents Phase 4,Phase 2,Not Applicable
32 Antifungal Agents Phase 4
33 Hypoglycemic Agents Phase 4,Not Applicable
34 Trichostatin A Phase 4
35 Antilymphocyte Serum Phase 4
36
Zinc Approved, Investigational Phase 3,Phase 1,Not Applicable 7440-66-6 32051
37
Darbepoetin alfa Approved, Investigational Phase 2, Phase 3,Phase 3 209810-58-2, 11096-26-7
38
Sargramostim Approved, Investigational Phase 2, Phase 3 123774-72-1, 83869-56-1
39
Lenograstim Approved, Investigational Phase 2, Phase 3 135968-09-1
40
Amlodipine Approved Phase 3,Phase 2,Not Applicable 88150-42-9 2162
41 Orange Approved Phase 3,Phase 2
42
tannic acid Approved Phase 3,Phase 2,Not Applicable 1401-55-4
43
Benzocaine Approved, Investigational Phase 3,Phase 2,Not Applicable 1994-09-7, 94-09-7 2337
44
Hydroxyurea Approved Phase 3,Phase 2,Phase 1 127-07-1 3657
45
Calcium Approved, Nutraceutical Phase 3,Phase 2,Phase 1,Not Applicable 7440-70-2 271
46 Zinc Supplement Phase 3
47 silymarin Phase 2, Phase 3,Phase 1
48 Adjuvants, Immunologic Phase 2, Phase 3,Not Applicable
49 Hematinics Phase 2, Phase 3,Phase 3,Not Applicable
50 Epoetin alfa Phase 2, Phase 3,Phase 3,Not Applicable 113427-24-0

Interventional clinical trials:

(show top 50) (show all 273)
# 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 Efficacy and Safety Study of Deferasirox in Patients With Non-transfusion Dependent Thalassemia Completed NCT01709838 Phase 4 ICL670 deferasirox
21 Treatment of Iron Deficiency Anaemia in Inflammatory Bowel Disease With Ferrous Sulphate Completed NCT01991314 Phase 4 Ferrous sulphate
22 Safety Study of Crushed Deferasirox Film Coated Tablets in Pediatric Patients With Transfusional Hemosiderosis Recruiting NCT03372083 Phase 4 Deferasirox
23 The Potential Hepatoprotective Effect of Metformin in Patients With Beta Thalassemia Major Recruiting NCT02984475 Phase 4 Metformin
24 Efficacy and Safety of Ferriprox® in Patients With Sickle Cell Disease or Other Anemias Recruiting NCT02041299 Phase 4 Deferiprone;Deferoxamine
25 Safety and Efficacy of Early Treatment With Deferiprone in Infants and Young Children Recruiting NCT03591575 Phase 4 Deferiprone oral solution;Placebo
26 Eltrombopag in Children With Idiopathic Aplastic Anemia Recruiting NCT03243656 Phase 4 Eltrombopag
27 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
28 Ascorbic Acid Administration in the Treatment of Anemia in Chronic Hemodialysed Patients Not yet recruiting NCT02225886 Phase 4 Ascorbic Acid
29 Myelodysplastic Syndrome (MDS) Gastrointestinal (GI) Tolerability Study Terminated NCT01326845 Phase 4 Deferasirox
30 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
31 Effect of Deferasirox on Endocrine Complications in Subjects With Transfusion Dependent Thalassemia Withdrawn NCT02069886 Phase 4 deferasirox
32 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
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 Phlebotomy and Lifestyle and Diet Advices vs Lifestyle and Diet Advices Only in Patients With Dysmetabolic Liversiderosis Completed NCT01045525 Phase 3
50 Haemochromatosis:Phlebotomy Versus Erythrocytapheresis Therapy Completed NCT00202436 Phase 3

Search NIH Clinical Center for Hemosiderosis

Inferred drug relations via UMLS 74 / NDF-RT 52 :


Cochrane evidence based reviews: hemosiderosis

Genetic Tests for Hemosiderosis

Anatomical Context for Hemosiderosis

MalaCards organs/tissues related to Hemosiderosis:

42
Liver, Heart, Bone, Lung, Bone Marrow, Kidney, Brain

Publications for Hemosiderosis

Articles related to Hemosiderosis:

(show top 50) (show all 1782)
# Title Authors Year
1
Atrial fibrillation in β-thalassemia patients with a focus on the role of iron-overload and oxidative stress: A review. ( 30536543 )
2019
2
Fetal-onset Congenital Dyserythropoietic Anemia Type 1 due to a Novel Mutation With Severe Iron Overload and Severe Cholestatic Liver Disease. ( 29668551 )
2019
3
Fatal case of Hajdu-Cheney syndrome with idiopathic pulmonary hemosiderosis. ( 30767323 )
2019
4
International sentinel site surveillance of patients with transfusional hemosiderosis treated with deferasirox in actual practice setting. ( 30558524 )
2019
5
Bronchoalveolar lavage hemosiderosis in dogs and cats with respiratory disease. ( 30657606 )
2019
6
Early Initiation of Steroid-sparing Drugs in Idiopathic Pulmonary Hemosiderosis. ( 30806370 )
2019
7
Comparative morphometric evaluation of hepatic hemosiderosis in wild Magellanic penguins (Spheniscus magellanicus) infected with different Plasmodium spp. subgenera. ( 30810664 )
2019
8
Rare neonatal interstitial lung disease masquerading as pulmonary hemosiderosis. ( 31023731 )
2019
9
Autoimmunity and Delayed Diagnosis in Pediatric Idiopathic Pulmonary Hemosiderosis. ( 31107369 )
2019
10
Clinical characteristics and prognosis of idiopathic pulmonary hemosiderosis in pediatric patients. ( 30278795 )
2019
11
Hepatic Hemosiderosis Contributes to Abnormal Vitamin D-PTH Axis in Thalassemia Major. ( 30044347 )
2019
12
Respiratory Distress and Severe Anemia in a Child With Idiopathic Pulmonary Hemosiderosis. ( 29683951 )
2019
13
Minocycline attenuates brain injury and iron overload after intracerebral hemorrhage in aged female rats. ( 29879529 )
2019
14
Deferoxamine Alleviates Iron Overload and Brain Injury in a Rat Model of Brainstem Hemorrhage. ( 31082547 )
2019
15
New thiazolidinones reduce iron overload in mouse models of hereditary hemochromatosis and β-thalassemia. ( 30792208 )
2019
16
N-terminal-pro-b-type natriuretic peptide levels and cardiac hemosiderosis in adolescent β-thalassemia major patients. ( 30745767 )
2019
17
Cardiac complications and iron overload in beta thalassemia major patients-a systematic review and meta-analysis. ( 30729283 )
2019
18
Mild Hereditary Spherocytosis without Accompanying Hereditary Haemochromatosis: An Unrecognised Cause of Iron Overload. ( 30965318 )
2019
19
Hydrogen Gas Alleviates Chronic Intermittent Hypoxia-Induced Renal Injury through Reducing Iron Overload. ( 30917568 )
2019
20
Deferasirox in the management of iron-overload in patients with myelofibrosis: a multicentre study from the Rete Ematologica Lombarda (IRON-M study). ( 31106402 )
2019
21
Atherosclerosis is aggravated by iron overload and ameliorated by dietary and pharmacological iron restriction. ( 30903157 )
2019
22
Broken hearts: Iron overload, ferroptosis and cardiomyopathy. ( 30809018 )
2019
23
Iron overload and liver cancer. ( 30886060 )
2019
24
Iron overload by transferrin receptor protein 1 regulation plays an important role in palmitate-induced insulin resistance in human skeletal muscle cells. ( 30207798 )
2019
25
Role of iron metabolism in heart failure: From iron deficiency to iron overload. ( 31109456 )
2019
26
Ferritinophagy activation and sideroflexin1-dependent mitochondria iron overload is involved in apelin-13-induced cardiomyocytes hypertrophy. ( 30731113 )
2019
27
Influence of hereditary hemochromatosis on left ventricular wall thickness: does iron overload exacerbate cardiac hypertrophy? ( 30835340 )
2019
28
Comprehensive analysis of HFE gene in hereditary hemochromatosis and in diseases associated with acquired iron overload. ( 30820268 )
2019
29
Effect of procyanidin on dietary iron absorption in hereditary hemochromatosis and in dysmetabolic iron overload syndrome: A crossover double-blind randomized controlled trial. ( 30792142 )
2019
30
Cardiac iron overload following liver transplantation in patients without hereditary hemochromatosis or severe hepatic iron deposition. ( 30763826 )
2019
31
Prevalence and management of iron overload in pyruvate kinase deficiency: report from the Pyruvate Kinase Deficiency Natural History Study. ( 30213831 )
2019
32
Cardiac T2* magnetic resonance analysis of membranous interventricular septum in assessment of cardiac iron overload in pediatric thalassemia patients: A pilot study. ( 31000939 )
2019
33
Prevalence of extramedullary hematopoiesis, renal cysts, splenic and hepatic lesions, and vertebral hemangiomas among thalassemic patients: a retrospective study from the Myocardial Iron Overload in Thalassemia (MIOT) network. ( 30891614 )
2019
34
Iron Chelation for Iron Overload in Thalassemia. ( 30855104 )
2019
35
Effectiveness and Safety of Deferasirox in Thalassemia with Iron Overload: A Meta-Analysis. ( 30504715 )
2019
36
Assessment of Cardiac Iron Overload in Thalassemia With MRI on 3.0-T: High-Field T1, T2, and T2* Quantitative Parametric Mapping in Comparison to T2* on 1.5-T. ( 30448128 )
2019
37
The Impact of Iron Overload in Patients with Acute Leukemia and Myelodysplastic Syndrome on Hepatic and Endocrine functions. ( 29633728 )
2018
38
A composite mouse model of aplastic anemia complicated with iron overload. ( 29434729 )
2018
39
Severe hemochromatosis arthropathy in the absence of iron overload. ( 30562413 )
2018
40
Effect of iron overload on impaired fertility in male patients with transfusion-dependent beta-thalassemia. ( 29166371 )
2018
41
Inhibition of heme oxygenase ameliorates anemia and reduces iron overload in a β-thalassemia mouse model. ( 29180398 )
2018
42
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
43
RNAi-mediated reduction of hepatic Tmprss6 diminishes anemia and secondary iron overload in a splenectomized mouse model of β-thalassemia intermedia. ( 29498084 )
2018
44
Acute Kidney Injury by Renal Hemosiderosis Secondary to Primary Cold Agglutinin Disease Associated with an Excessive Alcohol Intake. ( 29984743 )
2018
45
Dual action of vitamin C in iron supplement therapeutics for iron deficiency anemia: prevention of liver damage induced by iron overload. ( 30272083 )
2018
46
Severe iron-deficiency anemia as initial manifestation of pulmonary hemosiderosis in a child. ( 30517370 )
2018
47
Pulmonary hemosiderosis in children with Down syndrome: a national experience. ( 29678139 )
2018
48
Effects of Hemosiderosis on Epilepsy Following Subarachnoid Hemorrhage. ( 30568071 )
2018
49
Serum ferritin is not a reliable predictor to determine iron overload in thalassemia major patients post-hematopoietic stem cell transplantation. ( 30187571 )
2018
50
Iron overload in patients with rare hereditary hemolytic anemia: Evidence-based suggestion on whom and how to screen. ( 30105801 )
2018

Variations for Hemosiderosis

ClinVar genetic disease variations for Hemosiderosis:

6 (show top 50) (show all 58)
# Gene Variation Type Significance SNP ID Assembly Location
1 BEST1; FTH1 NM_004183.3(BEST1): c.1023C> T (p.Pro341=) single nucleotide variant Benign rs1801390 GRCh37 Chromosome 11, 61727438: 61727438
2 BEST1; FTH1 NM_004183.3(BEST1): c.1023C> T (p.Pro341=) single nucleotide variant Benign rs1801390 GRCh38 Chromosome 11, 61959966: 61959966
3 BEST1; FTH1 NM_004183.3(BEST1): c.1557C> T (p.Ser519=) single nucleotide variant Benign rs1800008 GRCh37 Chromosome 11, 61730183: 61730183
4 BEST1; FTH1 NM_004183.3(BEST1): c.1557C> T (p.Ser519=) single nucleotide variant Benign rs1800008 GRCh38 Chromosome 11, 61962711: 61962711
5 BEST1; FTH1 NM_004183.3(BEST1): c.1608T> C (p.Thr536=) single nucleotide variant Benign rs1800009 GRCh37 Chromosome 11, 61730234: 61730234
6 BEST1; FTH1 NM_004183.3(BEST1): c.1608T> C (p.Thr536=) single nucleotide variant Benign rs1800009 GRCh38 Chromosome 11, 61962762: 61962762
7 BEST1; FTH1 NM_004183.3(BEST1): c.1669G> A (p.Glu557Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs147192139 GRCh37 Chromosome 11, 61730295: 61730295
8 BEST1; FTH1 NM_004183.3(BEST1): c.1669G> A (p.Glu557Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs147192139 GRCh38 Chromosome 11, 61962823: 61962823
9 BEST1; FTH1 NM_004183.3(BEST1): c.1699C> T (p.Leu567Phe) single nucleotide variant Likely benign rs148060787 GRCh37 Chromosome 11, 61730325: 61730325
10 BEST1; FTH1 NM_004183.3(BEST1): c.1699C> T (p.Leu567Phe) single nucleotide variant Likely benign rs148060787 GRCh38 Chromosome 11, 61962853: 61962853
11 BEST1; FTH1 NM_004183.3(BEST1): c.1410G> A (p.Thr470=) single nucleotide variant Benign rs149698 GRCh37 Chromosome 11, 61730036: 61730036
12 BEST1; FTH1 NM_004183.3(BEST1): c.1410G> A (p.Thr470=) single nucleotide variant Benign rs149698 GRCh38 Chromosome 11, 61962564: 61962564
13 BEST1; FTH1 NM_004183.3(BEST1): c.1474G> A (p.Val492Ile) single nucleotide variant Benign/Likely benign rs111326315 GRCh37 Chromosome 11, 61730100: 61730100
14 BEST1; FTH1 NM_004183.3(BEST1): c.1474G> A (p.Val492Ile) single nucleotide variant Benign/Likely benign rs111326315 GRCh38 Chromosome 11, 61962628: 61962628
15 BEST1; FTH1 NM_004183.3(BEST1): c.1064G> A (p.Arg355His) single nucleotide variant Likely benign rs368356148 GRCh37 Chromosome 11, 61727479: 61727479
16 BEST1; FTH1 NM_004183.3(BEST1): c.1064G> A (p.Arg355His) single nucleotide variant Likely benign rs368356148 GRCh38 Chromosome 11, 61960007: 61960007
17 BEST1; FTH1 NM_004183.3(BEST1): c.1070C> T (p.Ala357Val) single nucleotide variant Likely benign rs17854138 GRCh37 Chromosome 11, 61727485: 61727485
18 BEST1; FTH1 NM_004183.3(BEST1): c.1070C> T (p.Ala357Val) single nucleotide variant Likely benign rs17854138 GRCh38 Chromosome 11, 61960013: 61960013
19 FTH1 NM_002032.2(FTH1): c.-204A> G single nucleotide variant Uncertain significance rs886048433 GRCh37 Chromosome 11, 61735101: 61735101
20 BEST1; FTH1 NM_004183.3(BEST1): c.1143C> T (p.Asp381=) single nucleotide variant Likely benign rs112199774 GRCh37 Chromosome 11, 61729769: 61729769
21 BEST1; FTH1 NM_004183.3(BEST1): c.1143C> T (p.Asp381=) single nucleotide variant Likely benign rs112199774 GRCh38 Chromosome 11, 61962297: 61962297
22 BEST1; FTH1 NM_004183.3(BEST1): c.*133T> C single nucleotide variant Likely benign rs1801621 GRCh37 Chromosome 11, 61731727: 61731727
23 BEST1; FTH1 NM_004183.3(BEST1): c.*133T> C single nucleotide variant Likely benign rs1801621 GRCh38 Chromosome 11, 61964255: 61964255
24 FTH1 NM_002032.2(FTH1): c.208C> T (p.Leu70=) single nucleotide variant Uncertain significance rs886048432 GRCh38 Chromosome 11, 61965422: 61965422
25 FTH1 NM_002032.2(FTH1): c.208C> T (p.Leu70=) single nucleotide variant Uncertain significance rs886048432 GRCh37 Chromosome 11, 61732894: 61732894
26 FTH1 NM_002032.2(FTH1): c.-204A> G single nucleotide variant Uncertain significance rs886048433 GRCh38 Chromosome 11, 61967629: 61967629
27 FTH1 NM_002032.2(FTH1): c.-231G> A single nucleotide variant Uncertain significance rs886048434 GRCh38 Chromosome 11, 61967656: 61967656
28 FTH1 NM_002032.2(FTH1): c.-231G> A single nucleotide variant Uncertain significance rs886048434 GRCh37 Chromosome 11, 61735128: 61735128
29 FTH1 NM_002032.2(FTH1): c.*312A> G single nucleotide variant Uncertain significance rs756884770 GRCh37 Chromosome 11, 61731887: 61731887
30 FTH1 NM_002032.2(FTH1): c.*312A> G single nucleotide variant Uncertain significance rs756884770 GRCh38 Chromosome 11, 61964415: 61964415
31 BEST1; FTH1 NM_002032.2(FTH1): c.*222C> T single nucleotide variant Benign rs17156609 GRCh37 Chromosome 11, 61731977: 61731977
32 BEST1; FTH1 NM_002032.2(FTH1): c.*222C> T single nucleotide variant Benign rs17156609 GRCh38 Chromosome 11, 61964505: 61964505
33 FTH1 NM_002032.2(FTH1): c.*165T> C single nucleotide variant Uncertain significance rs886048430 GRCh37 Chromosome 11, 61732034: 61732034
34 FTH1 NM_002032.2(FTH1): c.*165T> C single nucleotide variant Uncertain significance rs886048430 GRCh38 Chromosome 11, 61964562: 61964562
35 FTH1 NM_002032.2(FTH1): c.388-5T> C single nucleotide variant Uncertain significance rs753621558 GRCh38 Chromosome 11, 61964896: 61964896
36 FTH1 NM_002032.2(FTH1): c.388-5T> C single nucleotide variant Uncertain significance rs753621558 GRCh37 Chromosome 11, 61732368: 61732368
37 BEST1; FTH1 NM_002032.2(FTH1): c.387+12A> G single nucleotide variant Likely benign rs201120647 GRCh37 Chromosome 11, 61732447: 61732447
38 BEST1; FTH1 NM_002032.2(FTH1): c.387+12A> G single nucleotide variant Likely benign rs201120647 GRCh38 Chromosome 11, 61964975: 61964975
39 BEST1; FTH1 NM_002032.2(FTH1): c.161A> G (p.Lys54Arg) single nucleotide variant Likely benign rs186448909 GRCh37 Chromosome 11, 61732941: 61732941
40 BEST1; FTH1 NM_002032.2(FTH1): c.161A> G (p.Lys54Arg) single nucleotide variant Likely benign rs186448909 GRCh38 Chromosome 11, 61965469: 61965469
41 BEST1; FTH1 NM_004183.3(BEST1): c.1519T> C (p.Ser507Pro) single nucleotide variant Likely benign rs141071579 GRCh37 Chromosome 11, 61730145: 61730145
42 BEST1; FTH1 NM_004183.3(BEST1): c.1519T> C (p.Ser507Pro) single nucleotide variant Likely benign rs141071579 GRCh38 Chromosome 11, 61962673: 61962673
43 BEST1; FTH1 NG_008346.1: g.8323A> G single nucleotide variant Likely benign rs1801327 GRCh37 Chromosome 11, 61731810: 61731810
44 BEST1; FTH1 NG_008346.1: g.8323A> G single nucleotide variant Likely benign rs1801327 GRCh38 Chromosome 11, 61964338: 61964338
45 FTH1 NM_002032.2(FTH1): c.*385T> G single nucleotide variant Uncertain significance rs886048429 GRCh37 Chromosome 11, 61731814: 61731814
46 FTH1 NM_002032.2(FTH1): c.*385T> G single nucleotide variant Uncertain significance rs886048429 GRCh38 Chromosome 11, 61964342: 61964342
47 BEST1; FTH1 NG_008346.1: g.8253G> A single nucleotide variant Benign rs75281081 GRCh37 Chromosome 11, 61731880: 61731880
48 BEST1; FTH1 NG_008346.1: g.8253G> A single nucleotide variant Benign rs75281081 GRCh38 Chromosome 11, 61964408: 61964408
49 FTH1 NM_002032.2(FTH1): c.413A> T (p.Tyr138Phe) single nucleotide variant Uncertain significance rs886048431 GRCh38 Chromosome 11, 61964866: 61964866
50 FTH1 NM_002032.2(FTH1): c.413A> T (p.Tyr138Phe) single nucleotide variant Uncertain significance rs886048431 GRCh37 Chromosome 11, 61732338: 61732338

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 13)
# 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 blood microparticle GO:0072562 9.54 CP TF TFRC
9 extracellular vesicle GO:1903561 9.52 SLC11A2 TFRC
10 clathrin-coated vesicle membrane GO:0030665 9.51 TF TFRC
11 recycling endosome GO:0055037 9.46 HFE SLC11A2 TF TFRC
12 basal part of cell GO:0045178 9.13 HFE SLC11A2 TF
13 HFE-transferrin receptor complex GO:1990712 8.8 HFE TF TFRC

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.91 CP HFE SLC11A2 SLC40A1 TF
2 response to hypoxia GO:0001666 9.74 ALAS2 EPO SLC11A2
3 erythrocyte differentiation GO:0030218 9.59 ALAS2 EPO
4 biosynthetic process GO:0009058 9.58 ALAS2 GPT
5 liver regeneration GO:0097421 9.58 HAMP HFE
6 acute-phase response GO:0006953 9.58 EPO HAMP HFE
7 positive regulation of receptor-mediated endocytosis GO:0048260 9.56 HFE TF
8 iron ion transport GO:0006826 9.56 FTL SLC11A2 SLC40A1 TF
9 heme biosynthetic process GO:0006783 9.55 ALAS2 SLC11A2
10 response to vitamin A GO:0033189 9.54 EPO HAMP
11 transferrin transport GO:0033572 9.54 HFE TF TFRC
12 copper ion transport GO:0006825 9.52 CP SLC11A2
13 response to iron ion GO:0010039 9.5 HAMP HFE SLC11A2
14 cellular response to iron ion GO:0071281 9.49 HFE TF
15 hemoglobin biosynthetic process GO:0042541 9.48 ALAS2 EPO
16 porphyrin-containing compound metabolic process GO:0006778 9.46 ALAS2 SLC11A2
17 multicellular organismal iron ion homeostasis GO:0060586 9.46 HAMP HFE SLC11A2 SLC40A1
18 response to iron ion starvation GO:1990641 9.43 HAMP HFE
19 iron ion homeostasis GO:0055072 9.35 FTL HFE SLC11A2 SLC40A1 TF
20 cellular iron ion homeostasis GO:0006879 9.28 ALAS2 CP FTL HAMP HFE SLC11A2

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

# Name GO ID Score Top Affiliating Genes
1 pyridoxal phosphate binding GO:0030170 9.4 ALAS2 GPT
2 ferrous iron binding GO:0008198 9.37 FTL TF
3 ferric iron binding GO:0008199 9.32 FTL TF
4 ferroxidase activity GO:0004322 9.26 CP FTL
5 transferrin receptor binding GO:1990459 9.16 HFE TF
6 iron ion transmembrane transporter activity GO:0005381 8.96 SLC11A2 SLC40A1
7 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
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47 MGI
50 NCI
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52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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