Rare Hereditary Hemochromatosis

Categories: Cardiovascular diseases, Endocrine diseases, Genetic diseases, Liver diseases, Metabolic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Rare Hereditary Hemochromatosis

MalaCards integrated aliases for Rare Hereditary Hemochromatosis:

Name: Rare Hereditary Hemochromatosis 58
Iron Overload 54 6 39
Iron Overload Disease 58


Orphanet epidemiological data:

rare hereditary hemochromatosis
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: All ages;


Orphanet: 58  
Rare hepatic diseases
Inborn errors of metabolism

External Ids:

ICD10 via Orphanet 33 E83.1
UMLS via Orphanet 72 C0018995 C0282193
Orphanet 58 ORPHA220489

Summaries for Rare Hereditary Hemochromatosis

MalaCards based summary : Rare Hereditary Hemochromatosis, also known as iron overload, is related to iron overload in africa and hypochromic microcytic anemia with iron overload. The drugs Hyaluronic acid and Sofosbuvir have been mentioned in the context of this disorder. Affiliated tissues include liver, bone and brain, and related phenotypes are joint stiffness and fatigue

Related Diseases for Rare Hereditary Hemochromatosis

Diseases in the Rare Hereditary Hemochromatosis family:

Hemochromatosis, Type 1 Hemochromatosis, Type 2a
Hemochromatosis, Type 3 Hemochromatosis, Type 4
Hemochromatosis, Type 2b Hemochromatosis, Type 5
Hemochromatosis Type 2 Juvenile Hereditary Hemochromatosis
Tfr2-Related Hereditary Hemochromatosis

Diseases related to Rare Hereditary Hemochromatosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 441)
# Related Disease Score Top Affiliating Genes
1 iron overload in africa 13.1
2 hypochromic microcytic anemia with iron overload 12.9
3 anemia, hypochromic microcytic, with iron overload 1 12.8
4 anemia, hypochromic microcytic, with iron overload 2 12.8
5 genetic hyperferritinemia without iron overload 12.5
6 hemochromatosis, type 5 12.5
7 obsolete: rare hereditary iron overload disease 12.5
8 obsolete: hereditary iron overload with anemia 12.4
9 obsolete: hereditary iron overload with neurologic manifestation 12.4
10 hemochromatosis, type 4 11.9
11 atransferrinemia 11.9
12 hemochromatosis, type 3 11.9
13 congenital dyserythropoietic anemia 11.9
14 anemia, sideroblastic, 1 11.9
15 porphyria cutanea tarda 11.8
16 hyperferritinemia with or without cataract 11.8
17 anemia, sideroblastic, 3, pyridoxine-refractory 11.8
18 ferro-cerebro-cutaneous syndrome 11.7
19 hemochromatosis, type 2a 11.7
20 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema 11.7
21 hypochromic microcytic anemia 11.6
22 variegate porphyria 11.6
23 autosomal recessive pyridoxine-refractory sideroblastic anemia 2 11.6
24 anemia, sideroblastic, and spinocerebellar ataxia 11.6
25 anemia, sideroblastic, 2, pyridoxine-refractory 11.6
26 anemia, congenital dyserythropoietic, type ia 11.6
27 overhydrated hereditary stomatocytosis 11.5
28 anemia, congenital dyserythropoietic, type ii 11.5
29 hemochromatosis type 2 11.4
30 zellweger syndrome 11.4
31 anemia, sideroblastic, 4 11.3
32 pyridoxine-responsive sideroblastic anemia 11.3
33 myelodysplastic syndrome 10.9
34 siderosis 10.8
35 liver disease 10.8
36 deficiency anemia 10.7
37 hemosiderosis 10.7
38 atrial standstill 1 10.6
39 porphyria 10.6
40 fatty liver disease 10.6
41 sickle cell anemia 10.6
42 aplastic anemia 10.5
43 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 10.5
44 sideroblastic anemia 10.5
45 hepatocellular carcinoma 10.5
46 viral hepatitis 10.5
47 hemolytic anemia 10.5
48 non-alcoholic fatty liver disease 10.5
49 arthropathy 10.5
50 hypothyroidism 10.5

Graphical network of the top 20 diseases related to Rare Hereditary Hemochromatosis:

Diseases related to Rare Hereditary Hemochromatosis

Symptoms & Phenotypes for Rare Hereditary Hemochromatosis

Human phenotypes related to Rare Hereditary Hemochromatosis:

58 31 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint stiffness 58 31 hallmark (90%) Very frequent (99-80%) HP:0001387
2 fatigue 58 31 hallmark (90%) Very frequent (99-80%) HP:0012378
3 joint swelling 58 31 hallmark (90%) Very frequent (99-80%) HP:0001386
4 arthralgia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002829
5 hypogonadotrophic hypogonadism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000044
6 generalized hyperpigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007440
7 increased serum ferritin 58 31 hallmark (90%) Very frequent (99-80%) HP:0003281
8 osteoporosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000939
9 cirrhosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001394
10 cardiomyopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001638
11 congenital hepatic fibrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002612
12 neoplasm of the liver 58 31 occasional (7.5%) Occasional (29-5%) HP:0002896
13 abnormal joint morphology 58 Very frequent (99-80%)

Drugs & Therapeutics for Rare Hereditary Hemochromatosis

Drugs for Rare Hereditary Hemochromatosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 174)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741
Sofosbuvir Approved Phase 4 1190307-88-0 45375808
Ledipasvir Approved Phase 4 1256388-51-8 67505836
Velpatasvir Approved, Investigational Phase 4 1377049-84-7 67683363
Deferoxamine Approved, Investigational Phase 4 70-51-9 2973
Metformin Approved Phase 4 657-24-9 14219 4091
Iron Approved, Experimental Phase 4 7439-89-6, 15438-31-0 23925 27284
Deferasirox Approved, Investigational Phase 4 201530-41-8 5493381
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
Vitamin C Approved, Nutraceutical Phase 4 50-81-7 5785 54670067
Glycine Approved, Nutraceutical, Vet_approved Phase 4 56-40-6 750
12 Iron-Dextran Complex Phase 4
13 Plasma Substitutes Phase 4
14 Anticoagulants Phase 4
15 Dextrans Phase 4
16 Blood Substitutes Phase 4
17 Antiviral Agents Phase 4
18 Sofosbuvir-velpatasvir drug combination Phase 4
19 Lactoferrin Phase 4
20 Ledipasvir, sofosbuvir drug combination Phase 4
21 Liver Extracts Phase 4
22 Siderophores Phase 4
23 Hypoglycemic Agents Phase 4
24 Antilymphocyte Serum Phase 4
25 Pharmaceutical Solutions Phase 4
26 Antioxidants Phase 4
27 Vitamins Phase 4
28 Iron Supplement Phase 4
29 Nutrients Phase 4
30 Trace Elements Phase 4
31 Micronutrients Phase 4
32 Iron Chelating Agents Phase 4
33 Chelating Agents Phase 4
34 Anti-Infective Agents Phase 4
35 Immunologic Factors Phase 4
36 Dermatologic Agents Phase 4
37 Cyclosporins Phase 4
38 Antifungal Agents Phase 4
39 Immunosuppressive Agents Phase 4
40 Antirheumatic Agents Phase 4
41 Calcineurin Inhibitors Phase 4
42 Central Nervous System Stimulants Phase 4
Lenograstim Approved, Investigational Phase 2, Phase 3 135968-09-1
Sargramostim Approved, Investigational Phase 2, Phase 3 123774-72-1, 83869-56-1
45 Orange Approved Phase 3
Amlodipine Approved Phase 3 88150-42-9 2162
Darbepoetin alfa Approved, Investigational Phase 2, Phase 3 209810-58-2, 11096-26-7
Hydroxyurea Approved Phase 3 127-07-1 3657
tannic acid Approved Phase 3 1401-55-4
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337

Interventional clinical trials:

(show top 50) (show all 289)
# 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 Single Arm, Multicenter, Open Label Study of Desferasirox in Chinese Patients With Iron Overload and Aplastic Anemia Completed NCT01546415 Phase 4 Desferasirox
4 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
5 Evaluating the Efficacy of Deferasirox in Transfusion Dependent Chronic Anaemias (Myelodysplastic Syndrome, Beta-thalassaemia Patients) With Chronic Iron Overload Completed NCT00564941 Phase 4 deferasirox
6 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
7 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
8 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)
9 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
10 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
11 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
12 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
13 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
14 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
15 An Epidemiological Study to Assess the Prevalence of Iron Overload Using MRI in Patients With Transfusional Siderosis (TIMES Study) Completed NCT01736540 Phase 4
16 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:
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 deferasirox
18 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)
19 Pilot Pharmacokinetic Study In Patients With Inadequate Response To Deferasirox (Exjade) Completed NCT00749515 Phase 4 Deferoxamine;Deferasirox
20 Sofosbuvir/Ledipasvir for Hepatitis C Genotype 1-6 in Patients With Transfusion-Dependent Thalassemia: An Open Label Trial Completed NCT03032666 Phase 4 sofosbuvir/velpatasvir
21 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
22 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
23 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]
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 The Potential Hepatoprotective Effect of Metformin in Patients With Beta Thalasemia Major Recruiting NCT02984475 Phase 4 Metformin
26 Randomized Clinical Trial of the Use of Eltrombopag in Children With Idiopathic Aplastic Anemia Recruiting NCT03243656 Phase 4 Eltrombopag
27 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
28 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
29 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
30 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
31 Is Iron Supplementation Harmful in Populations Where Iron Deficiency is Not the Cause of Anemia? A 12 Week Randomized Controlled Trial in Cambodia Not yet recruiting NCT04017598 Phase 4
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 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
37 Erythrocytapheresis Versus Phlebotomy as Maintenance Therapy in Patients With Hereditary Hemochromatosis; a Randomised, Single Blinded Sequential, Cross-over Trial Unknown status NCT01398644 Phase 3
38 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
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 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
42 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
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 An Extension Study of Iron Chelation Therapy With Deferasirox (ICL670)in β-thalassemia Patients With Transfusional Iron Overload Completed NCT00171210 Phase 3 Deferasirox
45 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
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 Amlodipine in the Prevention and Treatment of Iron Overload in Patients With Thalassemia Major: a Randomized, Controlled Trial Completed NCT01395199 Phase 3 Amlodipine
48 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
49 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
50 Amlodipine Use in the Prevention and Treatment of Iron Overload in Patients With Thalassemia Major Completed NCT01125254 Phase 2, Phase 3 Amlodipine

Search NIH Clinical Center for Rare Hereditary Hemochromatosis

Genetic Tests for Rare Hereditary Hemochromatosis

Anatomical Context for Rare Hereditary Hemochromatosis

MalaCards organs/tissues related to Rare Hereditary Hemochromatosis:

Liver, Bone, Brain, Heart, Bone Marrow, Kidney, Testes

Publications for Rare Hereditary Hemochromatosis

Articles related to Rare Hereditary Hemochromatosis:

(show top 50) (show all 9195)
# Title Authors PMID Year
Effect of iron chelation therapy on EPO-STAT5 signalling pathway and EPO resistance in iron-overloaded low-risk myelodysplastic syndrome patients. 61
31838956 2020
Iron overload induced by IRP2 gene knockout aggravates symptoms of Parkinson's disease. 61
31904393 2020
The protective effect of nitronyl nitroxide radical on peroxidation of A549 cell damaged by iron overload. 61
31924023 2020
Alleviation Effect of Grape Seed Proanthocyanidins on Neuronal Apoptosis in Rats with Iron Overload. 61
31236816 2020
Molecular targets and therapeutic interventions for iron induced neurodegeneration. 61
31866454 2020
Impact of natural neuromedin-B receptor variants on iron metabolism. 61
31724192 2020
Blood product administration during high risk neuroblastoma therapy. 61
31829069 2020
Improvements in cardiac function detected using echocardiography in patients with hereditary haemochromatosis. 61
31111347 2020
Deferasirox protects against hydrogen peroxide-induced cell apoptosis by inhibiting ubiquitination and degradation of p21WAF1/CIP1. 61
32035614 2020
Cardiovascular magnetic resonance: applications and practical considerations for the general cardiologist. 61
31826937 2020
Regulation of iron homeostasis through the erythroferrone-hepcidin axis in sickle cell disease. 61
32030737 2020
Transferrin and H-ferritin involvement in brain iron acquisition during postnatal development: impact of sex and genotype. 61
31339576 2020
Quercetin protects the vascular endothelium against iron overload damages via ROS/ADMA/DDAHⅡ/eNOS/NO pathway. 61
31870832 2020
M2-like polarization of THP-1 monocyte-derived macrophages under chronic iron overload. 61
32006153 2020
Puerarin protects against iron overload-induced retinal injury through regulation of iron-handling proteins. 61
31786468 2020
Local hepcidin increased intracellular iron overload via the degradation of ferroportin in the kidney. 61
31761321 2020
Two novel polymorphic forms of iron-chelating agent deferiprone. 61
32022715 2020
Renoprotective Effects of Alpha Lipoic Acid on Iron Overload-Induced Kidney Injury in Rats by Suppressing NADPH Oxidase 4 and p38 MAPK Signaling. 61
31025242 2020
Liver Stiffness Measurement by Vibration Controlled Transient Elastography Does Not Correlate to Hepatic Iron Overload in Children With Sickle Cell Disease. 61
32032243 2020
The effects of iron overload on mitochondrial function, mitochondrial dynamics, and ferroptosis in cardiomyocytes. 61
31891670 2020
Iron chelation therapy for myelodysplastic syndrome: a systematic review and meta-analysis. 61
31712933 2020
Genome-wide transcriptomics leads to the identification of deregulated genes after deferasirox therapy in low-risk MDS patients. 61
32015457 2020
Supportive care during pediatric hematopoietic stem cell transplantation: beyond infectious diseases. A report from workshops on supportive care of the Pediatric Diseases Working Party (PDWP) of the European Society for Blood and Marrow Transplantation (EBMT). 61
32029909 2020
Relation Between Cardiac T2* Values and Electrocardiographic Parameters in Children With Transfusion-dependent Thalassemia. 61
32032245 2020
Gain-of-function mutations in PIEZO1 directly impair hepatic iron metabolism via the inhibition of the BMP/SMADs pathway. 61
31737919 2020
Effect of procyanidin on dietary iron absorption in hereditary hemochromatosis and in dysmetabolic iron overload syndrome: A crossover double-blind randomized controlled trial. 61
30792142 2020
Identification of heterozygous p.Y150C and p.V274M mutations in the HJV gene in a Japanese patient with a mild phenotype of juvenile hemochromatosis: A case report. 61
31472034 2020
Keeping heart homeostasis in check through the balance of iron metabolism. 61
31162883 2020
The History of Deferiprone (L1) and the Paradigm of the Complete Treatment of Iron Overload in Thalassaemia. 61
31934321 2020
Modulation of sulfur assimilation metabolic toxicity overcomes anemia and hemochromatosis in mice. 61
32019729 2020
Zinc induces iron egress from intestinal Caco-2 cells via induction of Hephaestin: A role for PI3K in intestinal iron absorption. 61
31973819 2020
Mitochondria regulation in ferroptosis. 61
31810634 2020
Metabolic Reprogramming in Cancer is Induced to Increase Proton Production. 61
31932456 2020
Amine oxidase 3 is a novel pro-inflammatory marker of oxidative stress in peritoneal endometriosis lesions. 61
32001775 2020
Regulation of tissue iron homeostasis: the macrophage "ferrostat". 61
31996481 2020
Microbial Metabolite Signaling Is Required for Systemic Iron Homeostasis. 61
31708445 2020
Ferrous iron binding to epinephrine promotes the oxidation of iron and impedes activation of adrenergic receptors. 61
31911148 2020
Ferumoxytol-Enhanced MR Lymphography for Detection of Metastatic Lymph Nodes in Genitourinary Malignancies: A Prospective Study. 61
31613660 2020
Effects of over-load iron on nutrient digestibility, haemato-biochemistry, rumen fermentation and bacterial communities in sheep. 61
31663652 2020
Iron metabolism and iron disorders revisited in the hepcidin era. 61
31949017 2020
Occurrence, behaviour, and human exposure pathways and health risks of toxic geogenic contaminants in serpentinitic ultramafic geological environments (SUGEs): A medical geology perspective. 61
31693951 2020
Anemia management in non-menopausal women in a primary care setting: a prospective evaluation of clinical practice. 61
31964335 2020
Renal hemosiderosis secondary to intravascular hemolysis after mitral valve repair: A case report. 61
32011483 2020
Iron Overload in Renal Transplant Patients: The Role of Hepcidin and Erythropoietin. 61
31955851 2020
Nobiletin Regulates ROS/ADMA/DDAHII/eNOS/NO Pathway and Alleviates Vascular Endothelium Injury by Iron Overload. 61
32002792 2020
Protective effects of grape seed proanthocyanidins against iron overload-induced renal oxidative damage in rats. 61
31570250 2020
Impact of MRI technique on clinical decision-making in patients with liver iron overload: comparison of FerriScan- versus R2*-derived liver iron concentration. 61
31953658 2020
Nanoparticle encapsulated core-shell hydrogel for on-site BMSCs delivery protects from iron overload and enhances functional recovery. 61
31972243 2020
Iron overload as a risk factor for hepatic ischemia-reperfusion injury in liver transplantation: Potential role of ferroptosis. 61
31909544 2020
American Society of Hematology 2020 guidelines for sickle cell disease: transfusion support. 61
31985807 2020

Variations for Rare Hereditary Hemochromatosis

Expression for Rare Hereditary Hemochromatosis

Search GEO for disease gene expression data for Rare Hereditary Hemochromatosis.

Pathways for Rare Hereditary Hemochromatosis

GO Terms for Rare Hereditary Hemochromatosis

Sources for Rare Hereditary Hemochromatosis

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
54 Novoseek
57 OMIM via Orphanet
61 PubMed
70 Tocris
72 UMLS via Orphanet
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