MCID: HMS001
MIFTS: 54

Hemosiderosis

Categories: Metabolic diseases, Rare diseases

Aliases & Classifications for Hemosiderosis

MalaCards integrated aliases for Hemosiderosis:

Name: Hemosiderosis 12 75 53 55 44 15 72
Haemosiderosis 12
Iron Overload 72

Classifications:



External Ids:

Disease Ontology 12 DOID:12119
MeSH 44 D006486
NCIt 50 C82892
SNOMED-CT 68 39011001
UMLS 72 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 aceruloplasminemia 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 hematopoietic system and homeostasis/metabolism

Wikipedia : 75 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 351)
# Related Disease Score Top Affiliating Genes
1 aceruloplasminemia 31.3 TF HFE HAMP FTL CP
2 liver cirrhosis 30.5 TF HFE GPT
3 hypochromic microcytic anemia 30.3 TF SLC11A2 CP
4 refractory anemia 30.1 EPO ALAS2
5 thalassemia 29.9 TFRC TF HFE EPO
6 porphyria 29.8 TF HFE ALAS2
7 siderosis 29.6 TFRC TF SLC40A1 HFE
8 hemoglobin h disease 29.6 TFRC TF EPO
9 beta-thalassemia 29.6 TFRC TF HFE EPO
10 hemoglobinopathy 29.5 TF HFE HAMP EPO
11 atransferrinemia 29.5 TFRC TF SLC40A1 SLC11A2 HFE HAMP
12 wilson disease 29.4 TF HFE GPT CP
13 liver disease 29.3 TF HFE GPT CP
14 porphyria cutanea tarda 29.0 TFRC TF HFE HAMP
15 anemia, sideroblastic, 1 29.0 TFRC HAMP ALAS2
16 myelodysplastic syndrome 28.9 TFRC TF HFE EPO
17 microcytic anemia 28.6 TFRC TF SLC11A2 EPO ALAS2
18 iron metabolism disease 28.6 TFRC TF SLC40A1 SLC11A2 HFE EPO
19 iron deficiency anemia 28.3 TFRC TF SLC40A1 SLC11A2 HFE HAMP
20 hemochromatosis, type 1 26.7 TFRC TF SLC40A1 SLC11A2 HFE HAMP
21 deficiency anemia 26.2 TFRC TF SLC40A1 SLC11A2 HFE HAMP
22 pulmonary hemosiderosis 12.8
23 secondary pulmonary hemosiderosis 12.3
24 hemosiderosis, pulmonary, with deficiency of gamma-a globulin 12.2
25 superficial siderosis 12.1
26 gracile syndrome 11.4
27 rare hereditary hemochromatosis 10.6
28 glomerulonephritis 10.5
29 celiac disease 1 10.4
30 diffuse alveolar hemorrhage 10.4
31 ancylostomiasis 10.4 TF CP
32 fascioliasis 10.4 GPT CP
33 kwashiorkor 10.4 TF GPT
34 respiratory failure 10.3
35 mitral valve stenosis 10.3
36 ataxia and polyneuropathy, adult-onset 10.3
37 acquired polycythemia 10.3 TF EPO
38 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
39 idiopathic interstitial pneumonia 10.3
40 pulmonary fibrosis 10.3
41 plethora of newborn 10.2 TF EPO
42 hemolytic anemia 10.2
43 lung disease 10.2
44 vasculitis 10.2
45 eales disease 10.2 TF CP
46 pulmonary hypertension 10.2
47 sensorineural hearing loss 10.2
48 protein-energy malnutrition 10.1 TF GPT CP
49 cyanosis, transient neonatal 10.1
50 purpura 10.1

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 9.76 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 178)
# 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
Metformin Approved Phase 4 657-24-9 4091 14219
6
Iron Approved, Experimental Phase 4 15438-31-0, 7439-89-6 23925 27284
7
Deferasirox Approved, Investigational Phase 4 201530-41-8 5493381
8
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
9
Vitamin C Approved, Nutraceutical Phase 4 50-81-7 54670067 5785
10
Glycine Approved, Nutraceutical, Vet_approved Phase 4 56-40-6 750
11 Liver Extracts Phase 4
12 Antiviral Agents Phase 4
13 Sofosbuvir-velpatasvir drug combination Phase 4
14 Lactoferrin Phase 4
15 Ledipasvir, sofosbuvir drug combination Phase 4
16 Hypoglycemic Agents Phase 4
17 Antilymphocyte Serum Phase 4
18 Pharmaceutical Solutions Phase 4
19 Vitamins Phase 4
20 Antioxidants Phase 4
21 Trichostatin A Phase 4
22 Iron Supplement Phase 4
23 Epoetin alfa Phase 4 113427-24-0
24 Dextrans Phase 4
25 Iron-Dextran Complex Phase 4
26 Plasma Substitutes Phase 4
27 Anticoagulants Phase 4
28 Blood Substitutes Phase 4
29 Micronutrients Phase 4
30 Chelating Agents Phase 4
31 Nutrients Phase 4
32 Iron Chelating Agents Phase 4
33 Trace Elements Phase 4
34 Anti-Infective Agents Phase 4
35 Antifungal Agents Phase 4
36 Immunosuppressive Agents Phase 4
37 Cyclosporins Phase 4
38 Dermatologic Agents Phase 4
39 Calcineurin Inhibitors Phase 4
40 Antirheumatic Agents Phase 4
41 Immunologic Factors Phase 4
42 Hematinics Phase 4
43 Ferric Compounds Phase 4
44 Central Nervous System Stimulants Phase 4
45
Lenograstim Approved, Investigational Phase 2, Phase 3 135968-09-1
46
Sargramostim Approved, Investigational Phase 2, Phase 3 83869-56-1, 123774-72-1
47 Orange Approved Phase 3
48
Amlodipine Approved Phase 3 88150-42-9 2162
49
Darbepoetin alfa Approved, Investigational Phase 2, Phase 3 11096-26-7, 209810-58-2
50
Hydroxyurea Approved Phase 3 127-07-1 3657

Interventional clinical trials:

(show top 50) (show all 297)
# 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 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
3 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)
4 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
5 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
6 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:
7 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
8 A Single Arm, Multicenter, Open Label Study of Desferasirox in Chinese Patients With Iron Overload and Aplastic Anemia Completed NCT01546415 Phase 4 Desferasirox
9 Evaluating the Efficacy of Deferasirox in Transfusion Dependent Chronic Anaemias (Myelodysplastic Syndrome, Beta-thalassaemia Patients) With Chronic Iron Overload Completed NCT00564941 Phase 4 deferasirox
10 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
11 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)
12 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
13 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
14 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
15 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
16 An Epidemiological Study to Assess the Prevalence of Iron Overload Using MRI in Patients With Transfusional Siderosis (TIMES Study) Completed NCT01736540 Phase 4
17 An Open Label, Multi-center, Efficacy and Safety Study of Deferasirox in Iron Overloaded Patients With Non-transfusion Dependent Thalassemia Completed NCT01709838 Phase 4 ICL670 deferasirox
18 Pilot Pharmacokinetic Study In Patients With Inadequate Response To Deferasirox (Exjade) Completed NCT00749515 Phase 4 Deferoxamine;Deferasirox
19 Sofosbuvir/Ledipasvir for Hepatitis C Genotype 1-6 in Patients With Transfusion-Dependent Thalassemia: An Open Label Trial Completed NCT03032666 Phase 4 sofosbuvir/velpatasvir
20 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
21 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
22 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]
23 The Potential Hepatoprotective Effect of Metformin in Patients With Beta Thalasemia Major Recruiting NCT02984475 Phase 4 Metformin
24 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
25 Safety and Efficacy of Early-start Deferiprone Treatment in Infants and Young Children Newly Diagnosed With Transfusion-dependent Beta Thalassemia Recruiting NCT03591575 Phase 4 Deferiprone oral solution;Placebo
26 Randomized Clinical Trial of the Use of Eltrombopag in Children With Idiopathic Aplastic Anemia Recruiting NCT03243656 Phase 4 Eltrombopag
27 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 Active, not recruiting NCT03372083 Phase 4 Deferasirox
28 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
29 Effects of Ascorbic Acid Administration in the Treatment of Anemia in Chronic Hemodialysed Patients With Iron Overload Not yet recruiting NCT02225886 Phase 4 Ascorbic Acid
30 Is Iron Supplementation Harmful in Populations Where Iron Deficiency is Not the Cause of Anemia? A 12 Week RCT in Cambodia Not yet recruiting NCT04017598 Phase 4
31 Combination With Intravenous Iron Supplementation or Doubling Erythropoietin Dose for Patients With Chemotherapy-induced Anaemia Inadequately Responsive to Initial Erythropoietin Treatment Alone Not yet recruiting NCT02731378 Phase 4 Erythropoietins (EPO);Aggressive iron dextran supplementation;Erythropoietins (EPO);Sustained iron dextran supplementation
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 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
44 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
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 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
47 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
48 Randomized Open-label Phase III Study With Deferiprone and/or Desferrioxamine in Iron Overloaded Patients Completed NCT00350662 Phase 3 Deferiprone (L1);Desferrioxamine
49 Amlodipine in the Prevention and Treatment of Iron Overload in Patients With Thalassemia Major: a Randomized, Controlled Trial Completed NCT01395199 Phase 3 Amlodipine
50 Multicentre, Randomised, Open Label, Non-inferiority Trial to Evaluate the Efficacy and Safety of Deferiprone Compared to Deferasirox in Patients Aged From 1 Month to Less Than 18 Years Affected by Transfusion Dependent Haemoglobinopathies Completed NCT01825512 Phase 3 Deferiprone;Deferasirox

Search NIH Clinical Center for Hemosiderosis

Inferred drug relations via UMLS 72 / NDF-RT 51 :


Cyclophosphamide
deferasirox
Deferasirox
deferiprone
Deferoxamine

Cochrane evidence based reviews: hemosiderosis

Genetic Tests for Hemosiderosis

Anatomical Context for Hemosiderosis

MalaCards organs/tissues related to Hemosiderosis:

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

Publications for Hemosiderosis

Articles related to Hemosiderosis:

(show top 50) (show all 10634)
# Title Authors PMID Year
1
Iron excess in recreational marathon runners. 9 38
20197784 2010
2
Expression and function of iron-regulatory proteins in retina. 9 38
20408179 2010
3
Glutaredoxin 5 deficiency causes sideroblastic anemia by specifically impairing heme biosynthesis and depleting cytosolic iron in human erythroblasts. 9 38
20364084 2010
4
Down-regulation of Bmp/Smad signaling by Tmprss6 is required for maintenance of systemic iron homeostasis. 9 38
20200349 2010
5
Levels of plasma ceruloplasmin protein are markedly lower following dietary copper deficiency in rodents. 9 38
20170749 2010
6
Risk factors for near-term myocardial infarction in apparently healthy men and women. 9 38
20185621 2010
7
Highly sensitivity adhesion molecules detection in hereditary haemochromatosis patients reveals altered expression. 9 38
20193033 2010
8
Understanding the molecular mechanisms of Friedreich's ataxia to develop therapeutic approaches. 9 38
20413654 2010
9
HAMP promoter mutation nc.-153C>T in non p.C282Y homozygous patients with iron overload. 9 38
20007134 2010
10
HFE gene mutations and Wilson's disease in Sardinia. 9 38
19640812 2010
11
The role of iron overload and HFE gene mutations in the era of pegylated interferon and ribavirin treatment of chronic hepatitis C. 9 38
20190684 2010
12
Genetic and metabolic factors are associated with increased hepatic iron stores in a selected population of p.Cys282Tyr heterozygotes. 9 38
20117027 2010
13
Clinical presentation and molecular pathophysiology of autosomal dominant hemochromatosis caused by a novel ferroportin mutation. 9 38
19937651 2010
14
The diagnosis and management of hereditary haemochromatosis. 9 38
20179792 2010
15
Stoichiometries of transferrin receptors 1 and 2 in human liver. 9 38
19819738 2010
16
HFE gene mutations and iron status of Brazilian blood donors. 9 38
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. 9 38
19860558 2009
18
Friedreich's ataxia: oxidative stress and cytoskeletal abnormalities. 9 38
19748629 2009
19
Mutations in HFE causing hemochromatosis are associated with primary hypertriglyceridemia. 9 38
19820015 2009
20
Hemochromatosis: as a conformational disorder. 9 38
19375516 2009
21
Not all DMT1 mutations lead to iron overload. 9 38
19553145 2009
22
Ferroportin-1 in the recurrence of hepatic iron overload after liver transplantation. 9 38
18337195 2009
23
Haemochromatosis HFE gene polymorphisms as potential modifiers of hereditary nonpolyposis colorectal cancer risk and onset age. 9 38
19291797 2009
24
Severe hypochromic microcytic anemia in a patient with congenital atransferrinemia. 9 38
19579082 2009
25
Transferrin and ferritin response to bacterial infection: the role of the liver and brain in fish. 9 38
19428486 2009
26
Daily regulation of serum and urinary hepcidin is not influenced by submaximal cycling exercise in humans with normal iron metabolism. 9 38
19306018 2009
27
The impact of hemochromatosis mutations and transferrin genotype on gonadotropin serum levels in infertile men. 9 38
18395717 2009
28
[Study on HFE gene mutations in patients with myelodysplastic syndromes and aplastic anemia]. 9 38
19731820 2009
29
Nramp1 promotes efficient macrophage recycling of iron following erythrophagocytosis in vivo. 9 38
19321419 2009
30
Does the SLC40A1 gene modify HFE-related haemochromatosis phenotypes? 9 38
18820912 2009
31
Predicting iron overload in hyperferritinemia. 9 38
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. 9 38
19176363 2009
33
HFE C282Y homozygosity is associated with lower total and low-density lipoprotein cholesterol: The hemochromatosis and iron overload screening study. 9 38
20031565 2009
34
Knockdown of beta2-microglobulin perturbs the subcellular distribution of HFE and hepcidin. 9 38
19059216 2009
35
Severe iron overload with a novel aminolevulinate synthase mutation and hepatitis C infection. A case report. 9 38
18823803 2009
36
Hemojuvelin: the hepcidin story continues. 9 38
19287179 2009
37
New pharmacological concepts for the treatment of iron overload disorders. 9 38
19199923 2009
38
Reactive oxygen species regulate ceruloplasmin by a novel mRNA decay mechanism involving its 3'-untranslated region: implications in neurodegenerative diseases. 9 38
19019832 2009
39
Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels. 9 38
19084217 2009
40
Rare types of genetic hemochromatosis. 9 38
19907151 2009
41
Mutant HFE genotype leads to significant iron overload in patients with liver diseases from western Romania. 9 38
19433916 2009
42
Down-regulation of hepcidin in porphyria cutanea tarda. 9 38
18809758 2008
43
A new 500 kb haplotype associated with high CD8+ T-lymphocyte numbers predicts a less severe expression of hereditary hemochromatosis. 9 38
18990219 2008
44
Hemojuvelin N-terminal mutants reach the plasma membrane but do not activate the hepcidin response. 9 38
18827264 2008
45
Recent advances in the understanding of inherited sideroblastic anaemia. 9 38
18637800 2008
46
[Old and new iron parameters in iron metabolism and diagnostics]. 9 38
18791966 2008
47
C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload. 9 38
18760763 2008
48
Hereditary hemochromatosis in the post-HFE era. 9 38
18752323 2008
49
Revaluation of clinical and histological criteria for diagnosis of dysmetabolic iron overload syndrome. 9 38
18720534 2008
50
Accuracy of family history of hemochromatosis or iron overload: the hemochromatosis and iron overload screening study. 9 38
18585964 2008

Variations for Hemosiderosis

ClinVar genetic disease variations for Hemosiderosis:

6 (show all 29)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 BEST1 ; FTH1 NM_004183.4(BEST1): c.1669G> A (p.Glu557Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs147192139 11:61730295-61730295 11:61962823-61962823
2 FTH1 NM_002032.3(FTH1): c.208C> T (p.Leu70=) single nucleotide variant Uncertain significance rs886048432 11:61732894-61732894 11:61965422-61965422
3 FTH1 NM_002032.2(FTH1): c.-231G> A single nucleotide variant Uncertain significance rs886048434 11:61735128-61735128 11:61967656-61967656
4 FTH1 NM_002032.3(FTH1): c.388-5T> C single nucleotide variant Uncertain significance rs753621558 11:61732368-61732368 11:61964896-61964896
5 FTH1 NM_002032.3(FTH1): c.*312A> G single nucleotide variant Uncertain significance rs756884770 11:61731887-61731887 11:61964415-61964415
6 FTH1 NM_002032.3(FTH1): c.*165T> C single nucleotide variant Uncertain significance rs886048430 11:61732034-61732034 11:61964562-61964562
7 FTH1 NM_002032.3(FTH1): c.*385T> G single nucleotide variant Uncertain significance rs886048429 11:61731814-61731814 11:61964342-61964342
8 FTH1 NM_002032.3(FTH1): c.413A> T (p.Tyr138Phe) single nucleotide variant Uncertain significance rs886048431 11:61732338-61732338 11:61964866-61964866
9 FTH1 NM_002032.3(FTH1): c.-2C> T single nucleotide variant Uncertain significance rs751983239 11:61734899-61734899 11:61967427-61967427
10 FTH1 NM_002032.2(FTH1): c.-221G> A single nucleotide variant Uncertain significance rs763318260 11:61735118-61735118 11:61967646-61967646
11 FTH1 NM_002032.3(FTH1): c.-204A> G single nucleotide variant Uncertain significance rs886048433 11:61735101-61735101 11:61967629-61967629
12 BEST1 ; FTH1 NM_004183.4(BEST1): c.1070C> T (p.Ala357Val) single nucleotide variant Likely benign rs17854138 11:61727485-61727485 11:61960013-61960013
13 BEST1 ; FTH1 NM_004183.4(BEST1): c.1064G> A (p.Arg355His) single nucleotide variant Likely benign rs368356148 11:61727479-61727479 11:61960007-61960007
14 BEST1 ; FTH1 NM_004183.4(BEST1): c.1143C> T (p.Asp381=) single nucleotide variant Likely benign rs112199774 11:61729769-61729769 11:61962297-61962297
15 BEST1 ; FTH1 NM_004183.4(BEST1): c.*24C> T single nucleotide variant Likely benign rs142482048 11:61731618-61731618 11:61964146-61964146
16 BEST1 ; FTH1 NM_002032.3(FTH1): c.*396A> G single nucleotide variant Likely benign rs565138844 11:61731803-61731803 11:61964331-61964331
17 BEST1 ; FTH1 NM_004183.4(BEST1): c.*133T> C single nucleotide variant Likely benign rs1801621 11:61731727-61731727 11:61964255-61964255
18 BEST1 ; FTH1 NM_002032.3(FTH1): c.387+12A> G single nucleotide variant Likely benign rs201120647 11:61732447-61732447 11:61964975-61964975
19 BEST1 ; FTH1 NM_002032.3(FTH1): c.161A> G (p.Lys54Arg) single nucleotide variant Likely benign rs186448909 11:61732941-61732941 11:61965469-61965469
20 BEST1 ; FTH1 NM_004183.4(BEST1): c.1519T> C (p.Ser507Pro) single nucleotide variant Likely benign rs141071579 11:61730145-61730145 11:61962673-61962673
21 BEST1 ; FTH1 NM_002032.3(FTH1): c.*389A> G single nucleotide variant Likely benign rs1801327 11:61731810-61731810 11:61964338-61964338
22 BEST1 ; FTH1 NM_004183.4(BEST1): c.1699C> T (p.Leu567Phe) single nucleotide variant Likely benign rs148060787 11:61730325-61730325 11:61962853-61962853
23 BEST1 ; FTH1 NM_004183.4(BEST1): c.1474G> A (p.Val492Ile) single nucleotide variant Benign/Likely benign rs111326315 11:61730100-61730100 11:61962628-61962628
24 BEST1 ; FTH1 NM_002032.3(FTH1): c.*319G> A single nucleotide variant Benign rs75281081 11:61731880-61731880 11:61964408-61964408
25 BEST1 ; FTH1 NM_004183.4(BEST1): c.1410G> A (p.Thr470=) single nucleotide variant Benign rs149698 11:61730036-61730036 11:61962564-61962564
26 BEST1 ; FTH1 NM_004183.4(BEST1): c.1023C> T (p.Pro341=) single nucleotide variant Benign rs1801390 11:61727438-61727438 11:61959966-61959966
27 BEST1 ; FTH1 NM_004183.4(BEST1): c.1557C> T (p.Ser519=) single nucleotide variant Benign rs1800008 11:61730183-61730183 11:61962711-61962711
28 BEST1 ; FTH1 NM_004183.4(BEST1): c.1608T> C (p.Thr536=) single nucleotide variant Benign rs1800009 11:61730234-61730234 11:61962762-61962762
29 BEST1 ; FTH1 NM_002032.3(FTH1): c.*222C> T single nucleotide variant Benign rs17156609 11:61731977-61731977 11:61964505-61964505

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 TFRC TF SLC40A1 SLC11A2 FTL CP
2
Show member pathways
12.08 TFRC TF SLC40A1 SLC11A2 FTL CP
3 11.67 TFRC TF EPO
4
Show member pathways
11.59 SLC40A1 SLC11A2 CP
5 11.44 TFRC TF EPO CP
6 11.28 TF SLC40A1 SLC11A2 FTL
7 11.18 TF EPO
8 11.01 SLC11A2 EPO
9 10.7 TFRC TF SLC40A1 SLC11A2 FTL CP
10 10.43 TFRC TF SLC40A1 SLC11A2 HAMP
11 10.21 HFE HAMP

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

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

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 GPT ALAS2
2 ferrous iron binding GO:0008198 9.37 TF FTL
3 ferric iron binding GO:0008199 9.32 TF FTL
4 ferroxidase activity GO:0004322 9.26 FTL CP
5 transferrin receptor binding GO:1990459 9.16 TF HFE
6 iron ion transmembrane transporter activity GO:0005381 8.96 SLC40A1 SLC11A2
7 ferrous iron transmembrane transporter activity GO:0015093 8.62 SLC40A1 SLC11A2

Sources for Hemosiderosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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