MCID: HMS001
MIFTS: 54

Hemosiderosis

Categories: Metabolic diseases, Rare diseases

Aliases & Classifications for Hemosiderosis

MalaCards integrated aliases for Hemosiderosis:

Name: Hemosiderosis 12 74 52 54 43 15 71
Haemosiderosis 12
Iron Overload 71

Classifications:



External Ids:

Disease Ontology 12 DOID:12119
MeSH 43 D006486
NCIt 49 C82892
SNOMED-CT 67 39011001
UMLS 71 C0019114 C0282193

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 atransferrinemia and liver cirrhosis. 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 Hyaluronic acid and Sofosbuvir have been mentioned in the context of this disorder. Affiliated tissues include liver, bone and heart, and related phenotypes are Decreased viability and Decreased viability

Wikipedia : 74 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 375)
# Related Disease Score Top Affiliating Genes
1 atransferrinemia 31.2 TFRC TFR2 TF SLC40A1 SLC11A2 HJV
2 liver cirrhosis 30.7 TF HFE GPT CP
3 neutropenia 30.2 TFRC GPT EPO CP
4 viral hepatitis 30.2 HFE GPT CP
5 atrial standstill 1 30.0 HJV HFE FXN
6 alcohol use disorder 29.9 TF HFE GPT
7 congenital dyserythropoietic anemia 29.7 TFRC HFE HAMP EPO
8 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 29.6 TFRC TFR2 TF SLC11A2 HJV HFE
9 thalassemia 29.5 TFRC TFR2 TF SLC40A1 HJV HFE
10 hemoglobin h disease 29.4 TFRC TF HAMP EPO BCS1L
11 wilson disease 29.4 TFRC TF SLC11A2 HFE GPT CP
12 alpha-thalassemia 29.3 TFRC HFE EPO BCS1L
13 hemoglobinopathy 29.0 TFRC TFR2 TF HJV HFE HAMP
14 neurodegeneration with brain iron accumulation 3 28.9 SLC11A2 IREB2 FTL CP ACO1
15 siderosis 28.9 UROD TFRC TFR2 TF SLC40A1 HJV
16 cataract 28.7 IREB2 HFE GPT FTL CP ACO1
17 iron deficiency anemia 28.6 TFRC TFR2 TF SLC40A1 SLC11A2 HJV
18 beta-thalassemia 28.6 TFRC TFR2 TF IREB2 HJV HFE
19 aceruloplasminemia 28.1 TFRC TFR2 SLC40A1 SLC11A2 IREB2 HJV
20 hypochromic microcytic anemia 28.0 TFRC TFR2 TF SLC11A2 IREB2 HJV
21 anemia, sideroblastic, 1 27.1 TFRC TFR2 SLC40A1 SLC11A2 IREB2 HJV
22 porphyria 27.0 UROD TFRC TFR2 TF SLC40A1 HJV
23 porphyria cutanea tarda 27.0 UROD TFRC TFR2 TF SLC40A1 HJV
24 iron metabolism disease 26.7 TFRC TFR2 TF SLC40A1 SLC11A2 IREB2
25 sideroblastic anemia 26.6 UROD TFRC TFR2 SLC40A1 IREB2 HJV
26 microcytic anemia 26.1 TFRC TFR2 TF SLC40A1 SLC11A2 IREB2
27 deficiency anemia 26.1 TFRC TFR2 TF SLC40A1 SLC11A2 IREB2
28 hemochromatosis, type 1 24.6 UROD TFRC TFR2 TF SLC40A1 SLC11A2
29 pulmonary hemosiderosis 12.8
30 secondary pulmonary hemosiderosis 12.3
31 hemosiderosis, pulmonary, with deficiency of gamma-a globulin 12.2
32 superficial siderosis 12.2
33 gracile syndrome 11.5
34 heiner syndrome 11.3
35 rare hereditary hemochromatosis 10.6
36 glomerulonephritis 10.5
37 nutmeg liver 10.4 GPT CP
38 diffuse alveolar hemorrhage 10.4
39 celiac disease 1 10.4
40 lung clear cell carcinoma 10.4 HAMP EPO
41 anemia of prematurity 10.4 HAMP EPO
42 iron-refractory iron deficiency anemia 10.4 HJV EPO
43 eales disease 10.4 TF CP
44 acquired polycythemia 10.4 HAMP EPO
45 chronic congestive splenomegaly 10.3 HFE EPO
46 respiratory failure 10.3
47 mitral valve stenosis 10.3
48 porphyria cutanea tarda, type i 10.3 UROD HFE
49 ataxia and polyneuropathy, adult-onset 10.3
50 protein-energy malnutrition 10.3 TF GPT CP

Graphical network of the top 20 diseases related to Hemosiderosis:



Diseases related to Hemosiderosis

Symptoms & Phenotypes for Hemosiderosis

GenomeRNAi Phenotypes related to Hemosiderosis according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.98 FXN
2 Decreased viability GR00240-S-1 9.98 CYBRD1 TFRC
3 Decreased viability GR00249-S 9.98 ALAS2 BCS1L CP SLC11A2
4 Decreased viability GR00301-A 9.98 FXN
5 Decreased viability GR00381-A-1 9.98 TFR2 UROD
6 Decreased viability GR00386-A-1 9.98 ACO1 EPO IREB2 TF TFR2
7 Decreased viability GR00402-S-2 9.98 GPT HAMP HJV SLC11A2 TF TFRC
8 Increased the percentage of infected cells GR00402-S-1 8.32 IREB2

MGI Mouse Phenotypes related to Hemosiderosis:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.32 ACO1 ALAS2 BCS1L CP CYBRD1 EPO
2 hematopoietic system MP:0005397 10.25 ALAS2 BCS1L CP EPO FTL HEPH
3 immune system MP:0005387 10.17 BCS1L CP EPO FTL FXN HEPH
4 cardiovascular system MP:0005385 10.13 CP CYBRD1 EPO FXN HEPH HJV
5 liver/biliary system MP:0005370 10 BCS1L CP CYBRD1 EPO FTL HEPH
6 integument MP:0010771 9.86 ALAS2 EPO HEPH HJV IREB2 SLC11A2
7 mortality/aging MP:0010768 9.8 ACO1 ALAS2 BCS1L EPO FTL FXN
8 normal MP:0002873 9.23 ACO1 EPO HEPH HFE HJV IREB2

Drugs & Therapeutics for Hemosiderosis

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

(show top 50) (show all 176)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741
2
Sofosbuvir Approved Phase 4 1190307-88-0 45375808
3
Ledipasvir Approved Phase 4 1256388-51-8 67505836
4
Velpatasvir Approved, Investigational Phase 4 1377049-84-7 67683363
5
Deferoxamine Approved, Investigational Phase 4 70-51-9 2973
6
Metformin Approved Phase 4 657-24-9 14219 4091
7
Iron Approved, Experimental Phase 4 15438-31-0, 7439-89-6 27284 23925
8
Deferasirox Approved, Investigational Phase 4 201530-41-8 5493381
9
Vitamin C Approved, Nutraceutical Phase 4 50-81-7 5785 54670067
10 Dextrans Phase 4
11 Iron-Dextran Complex Phase 4
12 Anticoagulants Phase 4
13 Plasma Substitutes Phase 4
14 Blood Substitutes Phase 4
15 Liver Extracts Phase 4
16 Anti-Infective Agents Phase 4
17 Antiviral Agents Phase 4
18 Lactoferrin Phase 4
19 Ledipasvir, sofosbuvir drug combination Phase 4
20 Hypoglycemic Agents Phase 4
21 Antioxidants Phase 4
22 Protective Agents Phase 4
23 Vitamins Phase 4
24 Antilymphocyte Serum Phase 4
25 Iron Supplement Phase 4
26 Pharmaceutical Solutions Phase 4
27 Chelating Agents Phase 4
28 Iron Chelating Agents Phase 4
29 Immunosuppressive Agents Phase 4
30 Cyclosporins Phase 4
31 Trace Elements Phase 4
32 Nutrients Phase 4
33 Micronutrients Phase 4
34 Central Nervous System Stimulants Phase 4
35
Zinc Approved, Investigational Phase 3 7440-66-6 32051
36
Sargramostim Approved, Investigational Phase 2, Phase 3 83869-56-1, 123774-72-1
37
Lenograstim Approved, Investigational Phase 2, Phase 3 135968-09-1
38 Orange Approved Phase 3
39
Amlodipine Approved Phase 3 88150-42-9 2162
40
Darbepoetin alfa Approved, Investigational Phase 2, Phase 3 11096-26-7, 209810-58-2
41
carbamide peroxide Approved Phase 2, Phase 3 124-43-6
42
Hydroxyurea Approved Phase 3 127-07-1 3657
43
tannic acid Approved Phase 3 1401-55-4
44
Benzocaine Approved, Investigational Phase 3 94-09-7, 1994-09-7 2337
45 Hematinics Phase 2, Phase 3
46 Zinc Supplement Phase 3
47 Antihypertensive Agents Phase 3
48 Vasodilator Agents Phase 3
49 Calcium, Dietary Phase 3
50 calcium channel blockers Phase 3

Interventional clinical trials:

(show top 50) (show all 310)
# Name Status NCT ID Phase Drugs
1 A Randomized, Placebo Controlled, Double Blind Trial of the Effect of Combined Therapy With Deferoxamine and Deferiprone on Myocardial Iron in Thalassemia Major Using Cardiovascular Magnetic Resonance Unknown status NCT00103753 Phase 4 deferiprone
2 Combination With Intravenous Iron Supplementation or Doubling Erythropoietin Dose for Patients With Chemotherapy-induced Anaemia Inadequately Responsive to Initial Erythropoietin Treatment Alone Unknown status NCT02731378 Phase 4 Erythropoietins (EPO);Aggressive iron dextran supplementation;Erythropoietins (EPO);Sustained iron dextran supplementation
3 A One-year, Open-label, Single Arm, Multi-center Trial Evaluating the Efficacy and Safety of Oral ICL670 (20 mg/kg/d) in Patients Three to Six Months After Allogeneic Hematopoietic Cell Transplantation in Whom Iron Overload is Present Completed NCT00654589 Phase 4 Deferasirox
4 Randomized Trial Comparing the Relative Efficacy of Deferiprone to That of Deferoxamine in Removing Excess Cardiac Iron in Thalassemia Major Patients Completed NCT00105495 Phase 4 Ferriprox (deferiprone);Desferal (deferoxamine)
5 A One-year, Open-label, Single Arm, Multi-center Trial Evaluating the Efficacy and Safety of Oral ICL670 in Patients Diagnosed With Low and INT-1 Risk Myelodysplastic Syndrome (MDS) and Transfusion-dependent Iron Overload Completed NCT00481143 Phase 4 ICL670/Deferasirox
6 1-year Extension to CICL670A2402 an Open-label, Multi-center Trial of the Efficacy and Safety of Long-term Treatment With Deferasirox (10 to 20 mg/kg/Day) in Beta-thalassemia Patients With Transfusional Hemosiderosis (Study Amended to 2- Year Duration) Completed NCT00171301 Phase 4 Deferasirox
7 A Single-arm, Open-label Study of the Palatability and Tolerability of Deferasirox Taken With Meals, With Different Liquids or Crushed and Added to Food Completed NCT00845871 Phase 4 deferasirox:
8 1 Year, Open-label Multicenter Evaluation of Efficacy, Safety of Deferasirox in Patients MDS, Thalassemia and Rare Anemia Types Having Transfusion-induced Iron Overload. Completed NCT01250951 Phase 4 Deferasirox
9 A Single Arm, Multicenter, Open Label Study of Desferasirox in Chinese Patients With Iron Overload and Aplastic Anemia Completed NCT01546415 Phase 4 Desferasirox
10 A Single-arm Interventional Phase IV, Post-authorisation Study Evaluating the Safety of Pediatric Patients With Transfusional Hemosiderosis Treated With Deferasirox Crushed Film Coated Tablets Completed NCT03372083 Phase 4 Deferasirox
11 Evaluating the Efficacy of Deferasirox in Transfusion Dependent Chronic Anaemias (Myelodysplastic Syndrome, Beta-thalassaemia Patients) With Chronic Iron Overload Completed NCT00564941 Phase 4 deferasirox
12 Open-Label Single-Arm Pilot Study of Deferasirox (Exjade®) in Adult Allogeneic Hematopoietic Stem Cell Transplant Recipients With Transfusional Iron Overload Completed NCT01335035 Phase 4 deferasirox
13 Safety of Deferasirox (ICL670) and Deferoxamine (Desferal or DFO) Combined Chelation Therapy in Patients With Transfusion Dependent Thalassemia and Iron Overload Completed NCT00901199 Phase 4 Combo Chelation with Deferasirox (Exjade) and Desferal (DFO)
14 A Phase II, Multi-center, Single-arm, Prospective Study to Evaluate the Safety and Efficacy of Deferasirox in Beta-thalassemia Major Patients After Hematopoietic Stem Cell Transplantation. Completed NCT01610297 Phase 4 ICL670
15 A Phase IV , Multicenter ,Open Label ,Non Comparative ,Investigator Initiated Study , Evaluating the Effect of Exjade on Oxidative Stress in Low Risk Myelodysplastic Syndrome Patients With Iron Over Load Completed NCT00452660 Phase 4 Exjade
16 A Study of Magnetic Resonance Imaging Assessment of Cardiac and Liver Iron Load in Patients With Haemoglobinopathies, Myelodysplastic Syndromes (MDS) or Other Anaemias Treated With Exjade® (Deferasirox) (The MILE Study) Completed NCT00673608 Phase 4 deferasirox
17 Increased Survival and Reversion of Iron-Induced Cardiac Disease in Patients With Thalassemia Major Receiving Intensive Combined Chelation Therapy Completed NCT00800761 Phase 4 Deferoxamine and Deferiprone;Deferoxamine
18 An Epidemiological Study to Assess the Prevalence of Iron Overload Using MRI in Patients With Transfusional Siderosis (TIMES Study) Completed NCT01736540 Phase 4
19 An Open Label, Multi-center, Efficacy and Safety Study of Deferasirox in Iron Overloaded Patients With Non-transfusion Dependent Thalassemia Completed NCT01709838 Phase 4 deferasirox
20 Pilot Pharmacokinetic Study In Patients With Inadequate Response To Deferasirox (Exjade) Completed NCT00749515 Phase 4 Deferoxamine;Deferasirox
21 Sofosbuvir/Ledipasvir for Hepatitis C Genotype 1-6 in Patients With Transfusion-Dependent Thalassemia: An Open Label Trial Completed NCT03032666 Phase 4 sofosbuvir/velpatasvir
22 Phase IV Study of Oral Administration of Bovine Lactoferrin (bLf) to Prevent and Cure Iron Deficiency (ID) and Iron Deficiency Anemia (IDA) Until Delivery in Hereditary Thrombophilia (HT) Affected Pregnant Women Completed NCT01221844 Phase 4 FerroGrad by Abbott
23 Treatment of Iron Deficiency Anaemia in Adults and Adolescents With Inflammatory Bowel Disease Using Ferrous Sulphate: Tolerance and Effects on Haemoglobin, Mood, Quality of Life and Fatigue Completed NCT01991314 Phase 4 Ferrous sulphate
24 Evaluation of Liver Fibrosis by Serum Hyalornic Acid Measurement in β-Thalassemic Children Infected With Hepatitis C Virus Before and After Direct-Acting Antiviral Therapy Completed NCT03961828 Phase 4 Ledipasvir 90 MG / Sofosbuvir 400 MG [Harvoni]
25 The Potential Hepatoprotective Effect of Metformin in Patients With Beta Thalasemia Major Recruiting NCT02984475 Phase 4 Metformin
26 The Efficacy and Safety of Ferriprox® for the Treatment of Transfusional Iron Overload in Patients With Sickle Cell Disease or Other Anemias Recruiting NCT02041299 Phase 4 Deferiprone;Deferoxamine
27 Effects of Ascorbic Acid Administration in the Treatment of Anemia in Chronic Hemodialysed Patients With Iron Overload Recruiting NCT02225886 Phase 4 Ascorbic Acid
28 Randomized Clinical Trial of the Use of Eltrombopag in Children With Idiopathic Aplastic Anemia Recruiting NCT03243656 Phase 4 Eltrombopag
29 Safety and Efficacy of Early-start Deferiprone Treatment in Infants and Young Children Newly Diagnosed With Transfusion-dependent Beta Thalassemia Active, not recruiting NCT03591575 Phase 4 Deferiprone oral solution;Placebo
30 Is Iron Supplementation Harmful in Populations Where Iron Deficiency is Not the Cause of Anemia? A 12 Week Randomized Controlled Trial in Cambodia Active, not recruiting NCT04017598 Phase 4
31 Long-term Safety and Efficacy Study of Ferriprox® for the Treatment of Transfusional Iron Overload in Patients With Sickle Cell Disease or Other Anemias Enrolling by invitation NCT02443545 Phase 4 Deferiprone
32 The Effect of Ferric Carboximaltose on Intra-myocardial Iron Load Assessed by Cardiac Magnetic Resonance in Patients With Heart Failure With Reduced Ejection Fraction (HFREF). Not yet recruiting NCT03871699 Phase 4 Ferric carboxymaltose
33 A Multicenter, Randomized, Comparative Study of Different Deferasirox Administration Regimens on Gastrointestinal (GI) Tolerability in Low or Intermediate (Int-1) Risk MDS Myelodysplastic Syndrome Patients With Transfusional Iron Overload. Terminated NCT01326845 Phase 4 Deferasirox
34 Open-label Study of Exjade in the Treatment of Transfusion-dependent Iron Overload in Aplastic Anemia Patients Undergoing Treatment Programs in Comparison With Control Group Terminated NCT01818726 Phase 4 ICL670;Chelation;No chelation
35 Phase IV Randomized Study Evaluating Agents Stimulants Erythropoiesis (ASE) Associated With Ferric Carboxymaltose (Ferinject ®) in Concomitant or Sequential Patients Treated for Cancer and With Anemia Associated With Functional Iron Deficiency Terminated NCT02213653 Phase 4 ARM A : IV iron + epoietin zeta;ARM B: IV iron + epoietin zeta sequence;ARM C : single epoietin zeta
36 A Prospective Randomized Comparative Study of Efficacy and Safety of Combined Deferiprone (DFP) and Deferasirox Versus DFP and Desferrioxamine (DFO) Therapy in Diseases With Severe Iron Overload Unknown status NCT01511848 Phase 2, Phase 3 DFP (ferriprox) and deferasirox (ICL 670);DFP, DFO
37 Combined Therapy of Silymarin and Desferrioxamine in Patients With B-thalassemia Major: a Randomized Double-blind Clinical Trial Unknown status NCT00999349 Phase 2, Phase 3 Silymarin (LEGALON);Placebo
38 Erythrocytapheresis Versus Phlebotomy as Maintenance Therapy in Patients With Hereditary Hemochromatosis; a Randomised, Single Blinded Sequential, Cross-over Trial Unknown status NCT01398644 Phase 3
39 Effect of Mode of Delivery of Iron and/or Iron and Zinc Supplement on Iron Status Markers and Potential Markers of Iron Toxicity in Children Aged 24-36 Months Unknown status NCT00980421 Phase 3
40 A Randomised Controlled Trial of Prolonged Treatment With Darbepoetin Alpha With or Without Recombinant Human Granulocyte Colony Stimulating Factor (G-CSF) Versus Best Supportive Care in Patients With Low-Risk Myelodysplastic Syndromes Unknown status NCT00234143 Phase 2, Phase 3 Darbepoetin
41 A Randomized, Comparative, Open Label Phase III Trial on Efficacy & Safety of Long-term Treatment With ICL670 Compared to Deferoxamine in Beta-thalassemia Patients With Transfusional Hemosiderosis Completed NCT00061750 Phase 3 ICL670;deferoxamine
42 A One Year, Open-label, Single-arm, Multi-center Trial Evaluating the Efficacy and Safety of Oral ICL670 (20 mg/kg/Day) in Patients Diagnosed With Transfusion-dependent Iron Overload Completed NCT00171821 Phase 3 Deferasirox
43 A 5-year Open Label, Non-comparative Extension to a Randomized, Open-label, Phase IIa Study to Evaluate Safety, Tolerability and the Effects on Liver Iron Concentration of Repeated Doses of 10 and 20 mg/kg/Day of Deferasirox in Comparison With 40 mg/kg/Day Deferoxamine in Patients With Transfusion-dependent Iron Overload Completed NCT01033747 Phase 2, Phase 3 Deferasirox;Deferasirox
44 A Study to Provide Expanded Access of (Exjade®) Deferasirox to Patients With Congenital Disorders of Red Blood Cells and Chronic Iron Overload From Blood Transfusions Who Cannot Adequately be Treated With Other Locally Approved Iron Chelators Completed NCT00235391 Phase 3 Deferasirox
45 An Extension Study of Iron Chelation Therapy With Deferasirox (ICL670)in β-thalassemia Patients With Transfusional Iron Overload Completed NCT00171210 Phase 3 Deferasirox
46 A 24-Week, Open Label, Uncontrolled Study of the Safety and Efficacy of Ferriprox™ (Deferiprone) Oral Solution in Iron Overloaded Pediatric Patients With Transfusion-Dependent Anemia Completed NCT00529152 Phase 3 Deferiprone
47 Prospective Randomized Study Comparing the Effect of Phlebotomy and Lifestyle and Diet Advices vs Lifestyle and Diet Advices Only on Glycemia in Patients With Dysmetabolic Liversiderosis Completed NCT01045525 Phase 3
48 Open-label, Multicenter, Single Arm, Phase III Study to Collect Additional Safety and Efficacy Data With Deferasirox Film-coated Tablets in Patients Completing Study CICL670F2201 Completed NCT02720536 Phase 3 Deferasirox
49 Randomized Open-label Phase III Study With Deferiprone and/or Desferrioxamine in Iron Overloaded Patients Completed NCT00350662 Phase 3 Deferiprone (L1);Desferrioxamine
50 Amlodipine in the Prevention and Treatment of Iron Overload in Patients With Thalassemia Major: a Randomized, Controlled Trial Completed NCT01395199 Phase 3 Amlodipine

Search NIH Clinical Center for Hemosiderosis

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


Cyclophosphamide
deferasirox
deferiprone

Cochrane evidence based reviews: hemosiderosis

Genetic Tests for Hemosiderosis

Anatomical Context for Hemosiderosis

MalaCards organs/tissues related to Hemosiderosis:

40
Liver, Bone, Heart, Brain, Lung, Bone Marrow, Kidney

Publications for Hemosiderosis

Articles related to Hemosiderosis:

(show top 50) (show all 11031)
# Title Authors PMID Year
1
Expression and function of iron-regulatory proteins in retina. 54 61
20408179 2010
2
Iron excess in recreational marathon runners. 61 54
20197784 2010
3
Down-regulation of Bmp/Smad signaling by Tmprss6 is required for maintenance of systemic iron homeostasis. 61 54
20200349 2010
4
Glutaredoxin 5 deficiency causes sideroblastic anemia by specifically impairing heme biosynthesis and depleting cytosolic iron in human erythroblasts. 61 54
20364084 2010
5
Levels of plasma ceruloplasmin protein are markedly lower following dietary copper deficiency in rodents. 61 54
20170749 2010
6
Understanding the molecular mechanisms of Friedreich's ataxia to develop therapeutic approaches. 54 61
20413654 2010
7
HAMP promoter mutation nc.-153C>T in non p.C282Y homozygous patients with iron overload. 54 61
20007134 2010
8
Highly sensitivity adhesion molecules detection in hereditary haemochromatosis patients reveals altered expression. 54 61
20193033 2010
9
Risk factors for near-term myocardial infarction in apparently healthy men and women. 54 61
20185621 2010
10
Clinical presentation and molecular pathophysiology of autosomal dominant hemochromatosis caused by a novel ferroportin mutation. 54 61
19937651 2010
11
HFE gene mutations and Wilson's disease in Sardinia. 61 54
19640812 2010
12
The role of iron overload and HFE gene mutations in the era of pegylated interferon and ribavirin treatment of chronic hepatitis C. 54 61
20190684 2010
13
Genetic and metabolic factors are associated with increased hepatic iron stores in a selected population of p.Cys282Tyr heterozygotes. 61 54
20117027 2010
14
The diagnosis and management of hereditary haemochromatosis. 54 61
20179792 2010
15
Stoichiometries of transferrin receptors 1 and 2 in human liver. 61 54
19819738 2010
16
HFE gene mutations and iron status of Brazilian blood donors. 61 54
20027482 2010
17
Potential nonresponse bias in a clinical examination after initial screening using iron phenotyping and HFE genotyping in the hemochromatosis and iron overload screening study. 54 61
19860558 2009
18
Friedreich's ataxia: oxidative stress and cytoskeletal abnormalities. 54 61
19748629 2009
19
Hemochromatosis: as a conformational disorder. 61 54
19375516 2009
20
Mutations in HFE causing hemochromatosis are associated with primary hypertriglyceridemia. 61 54
19820015 2009
21
Not all DMT1 mutations lead to iron overload. 54 61
19553145 2009
22
Severe hypochromic microcytic anemia in a patient with congenital atransferrinemia. 54 61
19579082 2009
23
Haemochromatosis HFE gene polymorphisms as potential modifiers of hereditary nonpolyposis colorectal cancer risk and onset age. 61 54
19291797 2009
24
Transferrin and ferritin response to bacterial infection: the role of the liver and brain in fish. 54 61
19428486 2009
25
Ferroportin-1 in the recurrence of hepatic iron overload after liver transplantation. 54 61
18337195 2009
26
Daily regulation of serum and urinary hepcidin is not influenced by submaximal cycling exercise in humans with normal iron metabolism. 54 61
19306018 2009
27
The impact of hemochromatosis mutations and transferrin genotype on gonadotropin serum levels in infertile men. 54 61
18395717 2009
28
Nramp1 promotes efficient macrophage recycling of iron following erythrophagocytosis in vivo. 54 61
19321419 2009
29
Does the SLC40A1 gene modify HFE-related haemochromatosis phenotypes? 61 54
18820912 2009
30
[Study on HFE gene mutations in patients with myelodysplastic syndromes and aplastic anemia]. 54 61
19731820 2009
31
Predicting iron overload in hyperferritinemia. 61 54
19095082 2009
32
A new missense mutation in the L ferritin coding sequence associated with elevated levels of glycosylated ferritin in serum and absence of iron overload. 61 54
19176363 2009
33
HFE C282Y homozygosity is associated with lower total and low-density lipoprotein cholesterol: The hemochromatosis and iron overload screening study. 61 54
20031565 2009
34
Severe iron overload with a novel aminolevulinate synthase mutation and hepatitis C infection. A case report. 54 61
18823803 2009
35
Mutant HFE genotype leads to significant iron overload in patients with liver diseases from western Romania. 61 54
19433916 2009
36
Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels. 61 54
19084217 2009
37
Rare types of genetic hemochromatosis. 54 61
19907151 2009
38
Hemojuvelin: the hepcidin story continues. 61 54
19287179 2009
39
New pharmacological concepts for the treatment of iron overload disorders. 61 54
19199923 2009
40
Reactive oxygen species regulate ceruloplasmin by a novel mRNA decay mechanism involving its 3'-untranslated region: implications in neurodegenerative diseases. 61 54
19019832 2009
41
Knockdown of beta2-microglobulin perturbs the subcellular distribution of HFE and hepcidin. 61 54
19059216 2009
42
Down-regulation of hepcidin in porphyria cutanea tarda. 54 61
18809758 2008
43
A new 500 kb haplotype associated with high CD8+ T-lymphocyte numbers predicts a less severe expression of hereditary hemochromatosis. 61 54
18990219 2008
44
Hemojuvelin N-terminal mutants reach the plasma membrane but do not activate the hepcidin response. 54 61
18827264 2008
45
Recent advances in the understanding of inherited sideroblastic anaemia. 54 61
18637800 2008
46
[Old and new iron parameters in iron metabolism and diagnostics]. 61 54
18791966 2008
47
Hereditary hemochromatosis in the post-HFE era. 61 54
18752323 2008
48
C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload. 54 61
18760763 2008
49
Accuracy of family history of hemochromatosis or iron overload: the hemochromatosis and iron overload screening study. 54 61
18585964 2008
50
Iron-dependent regulation of frataxin expression: implications for treatment of Friedreich ataxia. 61 54
18424449 2008

Variations for Hemosiderosis

ClinVar genetic disease variations for Hemosiderosis:

6 (show all 19) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 BEST1 , FTH1 NM_004183.4(BEST1):c.1064G>A (p.Arg355His)SNV Conflicting interpretations of pathogenicity 305124 rs368356148 11:61727479-61727479 11:61960007-61960007
2 BEST1 , FTH1 NM_004183.4(BEST1):c.1070C>T (p.Ala357Val)SNV Conflicting interpretations of pathogenicity 305125 rs17854138 11:61727485-61727485 11:61960013-61960013
3 BEST1 , FTH1 NM_004183.4(BEST1):c.1143C>T (p.Asp381=)SNV Conflicting interpretations of pathogenicity 305126 rs112199774 11:61729769-61729769 11:61962297-61962297
4 BEST1 , FTH1 NM_004183.4(BEST1):c.1519T>C (p.Ser507Pro)SNV Conflicting interpretations of pathogenicity 305130 rs141071579 11:61730145-61730145 11:61962673-61962673
5 BEST1 , FTH1 NM_004183.4(BEST1):c.*24C>TSNV Conflicting interpretations of pathogenicity 305132 rs142482048 11:61731618-61731618 11:61964146-61964146
6 BEST1 , FTH1 NM_004183.4(BEST1):c.1699C>T (p.Leu567Phe)SNV Conflicting interpretations of pathogenicity 99686 rs148060787 11:61730325-61730325 11:61962853-61962853
7 BEST1 , FTH1 NM_004183.4(BEST1):c.1669G>A (p.Glu557Lys)SNV Conflicting interpretations of pathogenicity 99684 rs147192139 11:61730295-61730295 11:61962823-61962823
8 FTH1 NM_002032.3(FTH1):c.*385T>GSNV Uncertain significance 305136 rs886048429 11:61731814-61731814 11:61964342-61964342
9 FTH1 NM_002032.2(FTH1):c.-221G>ASNV Uncertain significance 305148 rs763318260 11:61735118-61735118 11:61967646-61967646
10 FTH1 NM_002032.2(FTH1):c.-231G>ASNV Uncertain significance 305149 rs886048434 11:61735128-61735128 11:61967656-61967656
11 BEST1 , FTH1 NM_004183.4(BEST1):c.*133T>CSNV Likely benign 305133 rs1801621 11:61731727-61731727 11:61964255-61964255
12 BEST1 , FTH1 NM_004183.4(BEST1):c.1474G>A (p.Val492Ile)SNV Benign/Likely benign 193667 rs111326315 11:61730100-61730100 11:61962628-61962628
13 BEST1 , FTH1 NM_002032.3(FTH1):c.161A>G (p.Lys54Arg)SNV Benign/Likely benign 305145 rs186448909 11:61732941-61732941 11:61965469-61965469
14 BEST1 , FTH1 NM_002032.3(FTH1):c.387+12A>GSNV Benign/Likely benign 305143 rs201120647 11:61732447-61732447 11:61964975-61964975
15 BEST1 , FTH1 NM_004183.4(BEST1):c.1023C>T (p.Pro341=)SNV Benign/Likely benign 99676 rs1801390 11:61727438-61727438 11:61959966-61959966
16 BEST1 , FTH1 NM_002032.3(FTH1):c.*222C>TSNV Benign 305139 rs17156609 11:61731977-61731977 11:61964505-61964505
17 BEST1 , FTH1 NM_004183.4(BEST1):c.1608T>C (p.Thr536=)SNV Benign 99682 rs1800009 11:61730234-61730234 11:61962762-61962762
18 BEST1 , FTH1 NM_004183.4(BEST1):c.1557C>T (p.Ser519=)SNV Benign 99680 rs1800008 11:61730183-61730183 11:61962711-61962711
19 BEST1 , FTH1 NM_004183.4(BEST1):c.1410G>A (p.Thr470=)SNV Benign 193666 rs149698 11:61730036-61730036 11:61962564-61962564

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 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.21 TFRC TF SLC40A1 SLC11A2 HEPH FTL
2
Show member pathways
12.31 TFRC TF SLC40A1 SLC11A2 HEPH FTL
3 12.3 SLC11A2 IREB2 CP ACO1
4
Show member pathways
12.16 UROD HEPH FXN CP ALAS2
5
Show member pathways
11.72 SLC40A1 SLC11A2 HEPH CP
6 11.71 TFRC TF EPO
7 11.48 TFRC TF EPO CP
8 11.4 TF SLC40A1 SLC11A2 HEPH FTL CYBRD1
9 11.16 SLC11A2 FXN EPO
10 11.05 TFRC TF SLC40A1 SLC11A2 FTL CP
11 10.34 HJV HFE HAMP
12 10.3 TFRC TFR2 TF SLC40A1 SLC11A2 IREB2

GO Terms for Hemosiderosis

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

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.92 TFRC TF HJV HFE HAMP GPT
2 cell surface GO:0009986 9.8 TFRC TF SLC11A2 HJV EPO
3 early endosome GO:0005769 9.67 TFRC TF SLC11A2 HFE
4 recycling endosome GO:0055037 9.56 TFRC TF SLC11A2 HFE
5 cell GO:0005623 9.53 TFRC TFR2 TF SLC40A1 SLC11A2 IREB2
6 HFE-transferrin receptor complex GO:1990712 9.35 TFRC TFR2 TF HJV HFE
7 basal part of cell GO:0045178 9.33 TF SLC11A2 HFE

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

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 10.07 TF SLC40A1 SLC11A2 HFE HEPH FXN
2 iron ion transport GO:0006826 9.81 TFRC TFR2 TF SLC40A1 SLC11A2 IREB2
3 acute-phase response GO:0006953 9.73 TFR2 HFE HAMP EPO
4 response to iron ion GO:0010039 9.73 TFR2 SLC11A2 HFE HAMP FXN CYBRD1
5 osteoclast differentiation GO:0030316 9.71 TFRC TF IREB2
6 transferrin transport GO:0033572 9.71 TFRC TFR2 TF HFE
7 iron ion homeostasis GO:0055072 9.7 TFR2 TF SLC40A1 SLC11A2 IREB2 HJV
8 copper ion transport GO:0006825 9.69 SLC11A2 HEPH CP
9 iron ion transmembrane transport GO:0034755 9.67 TF SLC40A1 SLC11A2
10 heme biosynthetic process GO:0006783 9.67 UROD SLC11A2 FXN ALAS2
11 protoporphyrinogen IX biosynthetic process GO:0006782 9.65 UROD IREB2 ALAS2
12 erythrocyte development GO:0048821 9.63 SLC11A2 ALAS2
13 cellular response to iron ion GO:0071281 9.63 TFR2 TF HFE
14 response to vitamin A GO:0033189 9.62 HAMP EPO
15 positive regulation of bone resorption GO:0045780 9.62 TFRC TF
16 multicellular organismal iron ion homeostasis GO:0060586 9.62 SLC40A1 SLC11A2 HFE HAMP
17 protein autoprocessing GO:0016540 9.61 HJV FXN
18 intestinal absorption GO:0050892 9.61 IREB2 ACO1
19 porphyrin-containing compound biosynthetic process GO:0006779 9.6 UROD SLC11A2
20 positive regulation of peptide hormone secretion GO:0090277 9.59 TFR2 HFE
21 hemoglobin biosynthetic process GO:0042541 9.58 EPO ALAS2
22 porphyrin-containing compound metabolic process GO:0006778 9.58 SLC11A2 ALAS2
23 citrate metabolic process GO:0006101 9.57 IREB2 ACO1
24 response to iron ion starvation GO:1990641 9.56 HFE HAMP
25 regulation of iron ion transport GO:0034756 9.55 TF HFE
26 cellular iron ion homeostasis GO:0006879 9.53 TFRC TFR2 TF SLC40A1 SLC11A2 IREB2

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 co-receptor binding GO:0039706 9.49 TFR2 HFE
2 iron ion transmembrane transporter activity GO:0005381 9.48 SLC40A1 SLC11A2
3 ferrous iron transmembrane transporter activity GO:0015093 9.46 SLC40A1 SLC11A2
4 aconitate hydratase activity GO:0003994 9.43 IREB2 ACO1
5 ferric iron binding GO:0008199 9.43 TF FXN FTL
6 iron chaperone activity GO:0034986 9.4 TF FXN
7 iron-responsive element binding GO:0030350 9.37 IREB2 ACO1
8 transferrin receptor binding GO:1990459 9.33 TF HJV HFE
9 transferrin receptor activity GO:0004998 9.32 TFRC TFR2
10 ferroxidase activity GO:0004322 9.13 HEPH FXN CP
11 ferrous iron binding GO:0008198 8.92 TF HEPH FXN FTL

Sources for Hemosiderosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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