MCID: HMS001
MIFTS: 52

Hemosiderosis

Categories: Metabolic diseases, Rare diseases

Aliases & Classifications for Hemosiderosis

MalaCards integrated aliases for Hemosiderosis:

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

Classifications:



External Ids:

Disease Ontology 12 DOID:12119
MeSH 44 D006486
NCIt 50 C82892
SNOMED-CT 68 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 Iron and Deferasirox have been mentioned in the context of this disorder. Affiliated tissues include liver, heart and bone, and related phenotypes are hematopoietic system and liver/biliary system

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

Related Diseases for Hemosiderosis

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

(show top 50) (show all 180)
# Related Disease Score Top Affiliating Genes
1 aceruloplasminemia 31.6 CP FTL HAMP HFE TF
2 atransferrinemia 31.1 CP HAMP HFE SLC11A2 SLC40A1 TF
3 thalassemia 30.0 EPO HFE TF TFRC
4 liver cirrhosis 29.8 GPT HFE TF
5 hemoglobin h disease 29.7 EPO TF TFRC
6 beta-thalassemia 29.6 EPO HFE TF TFRC
7 liver disease 29.6 CP GPT HFE TF
8 siderosis 29.3 HFE SLC40A1 TF TFRC
9 iron metabolism disease 29.2 CP EPO HFE SLC11A2 SLC40A1 TF
10 microcytic anemia 29.2 EPO SLC11A2 TF TFRC
11 porphyria cutanea tarda 29.1 HAMP HFE TF TFRC
12 iron deficiency anemia 29.1 EPO HAMP HFE SLC11A2 SLC40A1 TF
13 deficiency anemia 28.6 CP EPO FTL HAMP HFE SLC11A2
14 hemochromatosis, type 1 28.3 CP FTL HAMP HFE SLC11A2 SLC40A1
15 pulmonary hemosiderosis 12.6
16 secondary pulmonary hemosiderosis 12.2
17 hemosiderosis, pulmonary, with deficiency of gamma-a globulin 12.0
18 superficial siderosis 11.8
19 gracile syndrome 11.3
20 celiac disease 1 10.3
21 ancylostomiasis 10.2 CP TF
22 swayback 10.2 CP HFE
23 hfe-associated hereditary hemochromatosis 10.2 HFE SLC11A2
24 glomerulonephritis 10.2
25 kwashiorkor 10.1 GPT TF
26 fascioliasis 10.1 CP GPT
27 nonalcoholic steatohepatitis 10.1 GPT HFE
28 eales disease 10.1 CP TF
29 acquired polycythemia 10.1 EPO TF
30 plethora of newborn 10.1 EPO TF
31 heart disease 10.1
32 hypochromic microcytic anemia 10.1 CP SLC11A2 TF
33 pure red-cell aplasia 10.1 EPO TF
34 protein-energy malnutrition 10.1 CP GPT TF
35 myocarditis 10.1
36 arthritis 10.0
37 hepatitis 10.0
38 paroxysmal nocturnal hemoglobinuria 10.0
39 hemoglobinuria 10.0
40 analbuminemia 10.0 EPO GPT TF
41 vitamin b12 deficiency 10.0 EPO GPT TF
42 rhizomelic chondrodysplasia punctata, type 2 10.0 HAMP HFE
43 anemia of prematurity 10.0 EPO HAMP
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 refractory anemia 10.0
49 hyperferritinemia with or without cataract 10.0 FTL HFE TF
50 congenital hemolytic anemia 9.9 EPO TF

Graphical network of the top 20 diseases related to Hemosiderosis:



Diseases related to Hemosiderosis

Symptoms & Phenotypes for Hemosiderosis

MGI Mouse Phenotypes related to Hemosiderosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.5 CP EPO HFE SLC11A2 SLC40A1 TF
2 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 all 25)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iron Approved Phase 4,Phase 2,Phase 3,Not Applicable 7439-89-6 23925
2
Deferasirox Approved, Investigational Phase 4,Phase 2,Phase 3 201530-41-8 5493381
3
Deferiprone Approved Phase 4,Phase 2,Phase 3 30652-11-0 2972
4
Deferoxamine Approved, Investigational Phase 4,Phase 2,Phase 3 70-51-9 2973
5
Metformin Approved Phase 4 657-24-9 14219 4091
6 Chelating Agents Phase 4,Phase 2,Phase 3
7 Iron Chelating Agents Phase 4,Phase 2,Phase 3
8 Trace Elements Phase 4,Phase 2,Phase 3
9 Micronutrients Phase 4,Phase 2,Phase 3
10 Liver Extracts Phase 4,Phase 2,Phase 3,Not Applicable
11 Hypoglycemic Agents Phase 4
12
Vitamin D Approved, Nutraceutical, Vet_approved Phase 2 1406-16-2
13
Vitamin D3 Approved, Nutraceutical Phase 2 67-97-0 5280795 6221
14
Ergocalciferol Approved, Nutraceutical Phase 2 50-14-6 5280793
15 Hematinics Phase 2
16 Epoetin alfa Phase 2 113427-24-0
17 Vitamins Phase 2
18 Ergocalciferols Phase 2
19 Bone Density Conservation Agents Phase 2
20 Calciferol Phase 2
21 Vitamin D2 Phase 2
22 Calcium, Dietary Phase 2
23
Benzocaine Approved, Investigational Not Applicable 94-09-7, 1994-09-7 2337
24 tannic acid Approved Not Applicable
25 Anesthetics Not Applicable

Interventional clinical trials:

(show all 40)
# Name Status NCT ID Phase Drugs
1 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
2 Palatability and Tolerability of Deferasirox Taken With Meals, With Different Liquids or Crushed and Added to Food Completed NCT00845871 Phase 4 deferasirox:
3 Efficacy Study in Removing Excess Iron From the Heart Completed NCT00105495 Phase 4 Ferriprox (deferiprone);Desferal (deferoxamine)
4 Safety and Efficacy of Desferasirox in Chinese Patients With Iron Overload and Aplastic Anemia Completed NCT01546415 Phase 4 Desferasirox
5 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
6 Efficacy and Safety of Deferasirox in Patients With Myelodysplastic Syndrome and Transfusion-dependent Iron Overload Completed NCT00481143 Phase 4 ICL670/Deferasirox
7 Safety Study of Crushed Deferasirox Film Coated Tablets in Pediatric Patients With Transfusional Hemosiderosis Recruiting NCT03372083 Phase 4 Deferasirox
8 The Potential Hepatoprotective Effect of Metformin in Patients With Beta Thalassemia Major Recruiting NCT02984475 Phase 4 Metformin
9 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
10 Safety, Tolerability, and Efficacy of Deferasirox in MDS Completed NCT00469560 Phase 3 Deferasirox
11 A Study of Long-term Treatment With Deferasirox in Patients With Beta-thalassemia and Transfusional Hemosiderosis Completed NCT00171171 Phase 3 deferasirox
12 Safety & Efficacy of ICL670 vs. Deferoxamine in Beta-thalassemia Patients With Iron Overload Due to Blood Transfusions Completed NCT00061750 Phase 3 ICL670;deferoxamine
13 Clinical Importance of Treating Iron Overload in Sickle Cell Disease Terminated NCT00981370 Phase 3 deferasirox
14 Efficacy and Safety of Deferasirox in Patients With Chronic Anemia and Transfusional Hemosiderosis Completed NCT00631163 Phase 2 Deferasirox (ICL670)
15 Safety of ICL670 vs. Deferoxamine in Sickle Cell Disease Patients With Iron Overload Due to Blood Transfusions Completed NCT00067080 Phase 2 ICL670, deferoxamine
16 Evaluating Use of Deferasirox as Compared to Deferoxamine in Treating Cardiac Iron Overload Completed NCT00600938 Phase 2 Core Study: Deferasirox;Core Study: Deferoxamine;Extension: deferoxamine to deferasirox;Extension: deferasirox to deferoxamine;Deferasirox;Deferoxamine
17 Extension Study of Iron Chelation Therapy With Deferasirox in β-thalassemia and Rare Chronic Anemia Patients Completed NCT00303329 Phase 2 Deferasirox
18 Study of Deferasirox in Iron Overload From Beta-thalassemia Unable to be Treated With Deferoxamine or Chronic Anemias Completed NCT00061763 Phase 2 Deferasirox
19 Evaluation of the Safety, Tolerability, Pharmacokinetics (PK) and Effects on Liver Iron Concentration of ICL670 Relative to Deferoxamine(DFO). Completed NCT01090323 Phase 2 ICL670
20 Treatment of Anemia With Epoetin Beta in Low Risk Myelodysplastic Syndrome (MDS) Completed NCT02428686 Phase 2 Epoetin beta (NeoRecormon)
21 A Protocol to Allow Treatment With ICL670 for Patients With or at Risk of Life-threatening Complications of Transfusional Iron Overload Who Are Unable to Tolerate Other Iron Chelators Because of Documented Severe Toxicity Completed NCT01044186 Phase 2 ICL670
22 The Deferasirox-calcium-vitamin D3 Therapy for Postmenopausal Osteoporosis (PMOP) Recruiting NCT02854722 Phase 2 Deferasirox and calcium-vitamin D3;Calcium-vitamin D3
23 Treatment of Iron Overload Requiring Chelation Therapy Withdrawn NCT01927913 Phase 2 SPD602;Deferasirox
24 Single and Multiple Ascending Dose Study of Aducanumab (BIIB037) in Japanese Participants With Alzheimer's Disease Completed NCT02434718 Phase 1 Aducanumab;Placebo
25 PHOX2B Mutation-Confirmed Congenital Central Hypoventilation Syndrome in A Chinese Family: Presentations From Newborn to Adulthood Unknown status NCT00652964
26 Observation of Patients With Transfusional Hemosiderosis Treatment With Deferasirox Completed NCT01394029 deferasirox
27 Pharmacogenetic Study in Patients Received Iron Chelating Agent Completed NCT01623895
28 Non-invasive Quantification of Liver Iron With MRI Completed NCT01516853 Not Applicable
29 ENTRUST, a 5 Year Surveillance of Children Aged 2 to <6 Years With Transfusional Iron Overload Treated With Deferasirox Completed NCT00466063 Deferasirox
30 The Silent Cortical Infarcts in the Cerebral Amyloid Angiopathy: Is There a Link With Subarachnoid Hemorrhage? Completed NCT02837354
31 Added Value of Speckle Tracking in the Evaluation of Patients With Sickle Cell Disease Completed NCT02394431
32 Confounder-Corrected Quantitative MRI Biomarker of Hepatic Iron Content Recruiting NCT02025543
33 Red Blood Cell Transfusion Thresholds and QOL in MDS Recruiting NCT02099669 Not Applicable
34 Erythrocyte Transfusion Based on the Measurement of Central Venous Oxygen Saturation in Postoperative Cardiac Surgery Recruiting NCT02963883 Not Applicable
35 A Case Control Study to Evaluate the Cognitive and Brain Function of β-thalassemia Patients. Enrolling by invitation NCT01935661
36 Detection of β Thalassemia Carriers by Red Cell Parameters Obtained From the H2 Automatic Counter Enrolling by invitation NCT00481221
37 Efficacy of Bone Marrow Mesenchymal Stem Cell in Pulmonary Hemosiderosis Not yet recruiting NCT02985346 Early Phase 1
38 Florbetaben as an Amyloid Plaque Marker in Elderly Patients With Focal or Disseminated Superficial Hemosiderosis Not yet recruiting NCT02664571 Not Applicable
39 Quality of Life and Treatment Satisfaction in β-Thalassemia Patients Receiving Deferasirox Not yet recruiting NCT03358498
40 Gall Bladder Status Among Children With Chronic Haemolytic Anemia Not yet recruiting NCT03533322

Search NIH Clinical Center for Hemosiderosis

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


Cochrane evidence based reviews: hemosiderosis

Genetic Tests for Hemosiderosis

Anatomical Context for Hemosiderosis

MalaCards organs/tissues related to Hemosiderosis:

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

Publications for Hemosiderosis

Articles related to Hemosiderosis:

(show top 50) (show all 1530)
# Title Authors Year
1
Liposteroid and methylprednisolone combination therapy for a case of idiopathic lung hemosiderosis. ( 29977750 )
2018
2
Inhibition of heme oxygenase ameliorates anemia and reduces iron overload in a I^-thalassemia mouse model. ( 29180398 )
2018
3
Comparison of the effects of deferasirox, deferoxamine, and combination of deferasirox and deferoxamine on an aplastic anemia mouse model complicated with iron overload. ( 29760547 )
2018
4
An investigation of the effects of curcumin on iron overload, hepcidin level, and liver function in I^-thalassemia major patients: A double-blind randomized controlled clinical trial. ( 29806132 )
2018
5
Renal hemosiderosis with uncontrolled hypertension. ( 29470742 )
2018
6
Pituitary in black-hypopituitarism secondary to hemosiderosis. ( 29549596 )
2018
7
Iron overload in transfusion-dependent survivors of hemoglobin Bart's hydrops fetalis. ( 29371322 )
2018
8
Iron overload impairs normal hematopoietic stem and progenitor cells through reactive oxygen species and shortens survival in myelodysplastic syndrome mice. ( 29903757 )
2018
9
Increased levels of advanced glycation end products positively correlate with iron overload and oxidative stress markers in patients with I^-thalassemia major. ( 29318368 )
2018
10
Hereditary hypochromic microcytic anemia associated with loss-of-function DMT1 gene mutations and absence of liver iron overload. ( 29178181 )
2018
11
Sickle Cell Disease Complicated by Iron Overload: An Under-Recognized Risk Factor for Vibrio vulnificus Infection. ( 29734168 )
2018
12
Respiratory Distress and Severe Anemia in a Child With Idiopathic Pulmonary Hemosiderosis. ( 29683951 )
2018
13
Fetal-onset Congenital Dyserythropoietic Anemia Type 1 due to a Novel Mutation With Severe Iron Overload and Severe Cholestatic Liver Disease. ( 29668551 )
2018
14
The Correlation of Cardiac and Hepatic Hemosiderosis as Measured by T2*MRI Technique with Ferritin Levels and Hemochromatosis Gene Mutations in Iranian Patients with Beta Thalassemia Major. ( 29467999 )
2018
15
The role of T2*-weighted gradient echo in the diagnosis of tumefactive intrahepatic extramedullary hematopoiesis in myelodysplastic syndrome and diffuse hepatic iron overload: a case report and review of the literature. ( 29332607 )
2018
16
A composite mouse model of aplastic anemia complicated with iron overload. ( 29434729 )
2018
17
Iron-Overload triggers ADAM-17 mediated inflammation in Severe Alcoholic Hepatitis. ( 29980709 )
2018
18
Pulmonary hemosiderosis in children with Down syndrome: a national experience. ( 29678139 )
2018
19
The Impact of Iron Overload in Patients with Acute Leukemia and Myelodysplastic Syndrome on Hepatic and Endocrine functions. ( 29633728 )
2018
20
Atrial fibrillation in β-thalassemia patients with a focus on the role of iron-overload and oxidative stress: A review. ( 30536543 )
2018
21
Life-Threatening Drug-Induced Liver Injury in a Patient with β-Thalassemia Major and Severe Iron Overload on Polypharmacy. ( 30251901 )
2018
22
Effect of iron overload on impaired fertility in male patients with transfusion-dependent beta-thalassemia. ( 29166371 )
2018
23
RNAi-mediated reduction of hepatic Tmprss6 diminishes anemia and secondary iron overload in a splenectomized mouse model of β-thalassemia intermedia. ( 29498084 )
2018
24
Complications of a severe autoimmune hemolytic anemia crisis: transfusional iron overload and gangrenous cholecystitis. ( 30291762 )
2018
25
Acute Kidney Injury by Renal Hemosiderosis Secondary to Primary Cold Agglutinin Disease Associated with an Excessive Alcohol Intake. ( 29984743 )
2018
26
Dual action of vitamin C in iron supplement therapeutics for iron deficiency anemia: prevention of liver damage induced by iron overload. ( 30272083 )
2018
27
Severe iron-deficiency anemia as initial manifestation of pulmonary hemosiderosis in a child. ( 30517370 )
2018
28
Serum ferritin is not a reliable predictor to determine iron overload in thalassemia major patients post-hematopoietic stem cell transplantation. ( 30187571 )
2018
29
Iron overload in patients with rare hereditary hemolytic anemia: Evidence-based suggestion on whom and how to screen. ( 30105801 )
2018
30
Recurrent idiopathic pulmonary hemosiderosis after long-term remission presented with Sjogren's syndrome: Idiopathic no more? ( 29984151 )
2018
31
Hepatic Hemosiderosis Contributes to Abnormal Vitamin D-PTH Axis in Thalassemia Major. ( 30044347 )
2018
32
Clinical characteristics and prognosis of idiopathic pulmonary hemosiderosis in pediatric patients. ( 30278795 )
2018
33
Diffuse pulmonary small nodular and patchy infiltrates on chest X-ray with hemoptysis: TB or not TB?-a call for scale up of respiratory medicine services in African TB high burden countries: a case of idiopathic pulmonary hemosiderosis. ( 30364423 )
2018
34
Dietary Iron Overload Abrogates Chemically-Induced Liver Cirrhosis in Rats. ( 30279328 )
2018
35
Iron overload in lower international prognostic scoring system risk patients with myelodysplastic syndrome receiving red blood cell transfusions: Relation to infections and possible benefit of iron chelation therapy. ( 29477023 )
2018
36
Iron overload promotes mitochondrial fragmentation in mesenchymal stromal cells from myelodysplastic syndrome patients through activation of the AMPK/MFF/Drp1 pathway. ( 29725013 )
2018
37
Iron overload is correlated with impaired autologous stem cell mobilization and survival in acute myeloid leukemia. ( 30203418 )
2018
38
Bone marrow iron score as an indicator for secondary iron overload in acute myeloid leukemia patients. ( 30014522 )
2018
39
Automated RBC exchange compared to manual exchange transfusion for children with sickle cell disease is cost-effective and reduces iron overload. ( 29574950 )
2018
40
Diagnosis and treatment of cardiac iron overload in transfusion-dependent thalassemia patients. ( 29754517 )
2018
41
Analysis of Glycosylation Profiles of Serum Glycoprotein from Iron Overload Thalassemia. ( 30146840 )
2018
42
Evaluation of Iron Overload Between Age Groups Using Magnetic Resonance Imaging and Its Correlation with Iron Profile in Transfusion-dependent Thalassemia. ( 30333273 )
2018
43
BULL'S EYE MACULOPATHY POSSIBLY DUE TO IRON OVERLOAD IN A CHILD WITH THALASSEMIA MAJOR: A CASE OF POSSIBLE "FERRITIN RETINOPATHY". ( 30395118 )
2018
44
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 )
2018
45
Effectiveness and Safety of Deferasirox in Thalassemia with Iron Overload: A Meta-Analysis. ( 30504715 )
2018
46
MRI for Iron Overload in Thalassemia. ( 29458732 )
2018
47
MRI for the diagnosis of cardiac and liver iron overload in patients with transfusion-dependent thalassemia: An algorithm to guide clinical use when availability is limited. ( 29473204 )
2018
48
Prevalence and management of iron overload in pyruvate kinase deficiency: report from the Pyruvate Kinase Deficiency Natural History Study. ( 30213831 )
2018
49
Small Molecule Inhibitors of NFkB Reverse Iron Overload and Hepcidin Deregulation in a Zebrafish Model for Hereditary Hemochromatosis Type 3. ( 29897731 )
2018
50
Hemochromatosis: pathophysiology, evaluation, and management of hepatic iron overload with a focus on MRI. ( 29966105 )
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 GRCh37 Chromosome 11, 61732894: 61732894
25 FTH1 NM_002032.2(FTH1): c.208C> T (p.Leu70=) single nucleotide variant Uncertain significance rs886048432 GRCh38 Chromosome 11, 61965422: 61965422
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 GRCh37 Chromosome 11, 61732368: 61732368
36 FTH1 NM_002032.2(FTH1): c.388-5T> C single nucleotide variant Uncertain significance rs753621558 GRCh38 Chromosome 11, 61964896: 61964896
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 GRCh37 Chromosome 11, 61732338: 61732338
50 FTH1 NM_002032.2(FTH1): c.413A> T (p.Tyr138Phe) single nucleotide variant Uncertain significance rs886048431 GRCh38 Chromosome 11, 61964866: 61964866

Expression for Hemosiderosis

Search GEO for disease gene expression data for Hemosiderosis.

Pathways for Hemosiderosis

Pathways related to Hemosiderosis according to GeneCards Suite gene sharing:

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

GO Terms for Hemosiderosis

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.95 CP EPO FTL HAMP TF TFRC
2 cytoplasmic vesicle GO:0031410 9.8 HFE SLC11A2 TF TFRC
3 extracellular space GO:0005615 9.8 CP EPO GPT HAMP HFE TF
4 perinuclear region of cytoplasm GO:0048471 9.76 HFE SLC11A2 TF TFRC
5 cell surface GO:0009986 9.71 EPO SLC11A2 TF TFRC
6 early endosome GO:0005769 9.62 HFE SLC11A2 TF TFRC
7 endosome membrane GO:0010008 9.61 SLC11A2 TF TFRC
8 clathrin-coated pit GO:0005905 9.54 TF TFRC
9 blood microparticle GO:0072562 9.54 CP TF TFRC
10 extracellular vesicle GO:1903561 9.52 SLC11A2 TFRC
11 clathrin-coated vesicle membrane GO:0030665 9.51 TF TFRC
12 recycling endosome GO:0055037 9.46 HFE SLC11A2 TF TFRC
13 basal part of cell GO:0045178 9.13 HFE SLC11A2 TF
14 HFE-transferrin receptor complex GO:1990712 8.8 HFE TF TFRC

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

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

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

# Name GO ID Score Top Affiliating Genes
1 copper ion binding GO:0005507 9.4 CP SLC11A2
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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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