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MCID: RRH023
MIFTS: 41

Rare Hereditary Hemochromatosis

Categories: Cardiovascular diseases, Endocrine diseases, Genetic diseases, Liver diseases, Metabolic diseases, Rare diseases, Skin diseases
Tissues Related diseases Publications Symptoms & Phenotypes Drugs
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Aliases & Classifications for Rare Hereditary Hemochromatosis

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MalaCards integrated aliases for Rare Hereditary Hemochromatosis:

Name: Rare Hereditary Hemochromatosis 59
Iron Overload 55 6 40
Iron Overload Disease 59

Characteristics:

Orphanet epidemiological data:

59
rare hereditary hemochromatosis
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: All ages;

Classifications:

MalaCards categories:
Global: Metabolic diseases Rare diseases Genetic diseases
Anatomical: Liver diseases Skin diseases Cardiovascular diseases Endocrine diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare hepatic diseases
Inborn errors of metabolism


External Ids:

ICD10 via Orphanet 34 E83.1
UMLS via Orphanet 73 C0018995 C0282193
Orphanet 59 ORPHA220489
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Summaries for Rare Hereditary Hemochromatosis

About this section
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 heart, and related phenotypes are joint stiffness and fatigue

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Related Diseases for Rare Hereditary Hemochromatosis

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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

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

(show top 50) (show all 435)
# Related Disease Score Top Affiliating Genes
1 iron overload in africa 13.1
2 hypochromic microcytic anemia with iron overload 13.0
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 sickle cell anemia 10.6
41 fatty liver disease 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 arthropathy 10.5
49 non-alcoholic fatty liver disease 10.5
50 graft-versus-host disease 10.5

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



Diseases related to Rare Hereditary Hemochromatosis
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Symptoms & Phenotypes for Rare Hereditary Hemochromatosis

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Human phenotypes related to Rare Hereditary Hemochromatosis:

59 32 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint stiffness 59 32 hallmark (90%) Very frequent (99-80%) HP:0001387
2 fatigue 59 32 hallmark (90%) Very frequent (99-80%) HP:0012378
3 joint swelling 59 32 hallmark (90%) Very frequent (99-80%) HP:0001386
4 arthralgia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002829
5 hypogonadotrophic hypogonadism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000044
6 generalized hyperpigmentation 59 32 hallmark (90%) Very frequent (99-80%) HP:0007440
7 increased serum ferritin 59 32 hallmark (90%) Very frequent (99-80%) HP:0003281
8 osteoporosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000939
9 cirrhosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001394
10 cardiomyopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001638
11 congenital hepatic fibrosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002612
12 neoplasm of the liver 59 32 occasional (7.5%) Occasional (29-5%) HP:0002896
13 abnormal joint morphology 59 Very frequent (99-80%)
Sources

Drugs & Therapeutics for Rare Hereditary Hemochromatosis

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Drugs for Rare Hereditary Hemochromatosis (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 Antioxidants Phase 4
20 Trichostatin A Phase 4
21 Vitamins 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 Nutrients Phase 4
30 Micronutrients Phase 4
31 Trace Elements Phase 4
32 Chelating Agents Phase 4
33 Iron Chelating Agents 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 284)
# 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 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
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 Evaluating the Efficacy of Deferasirox in Transfusion Dependent Chronic Anaemias (Myelodysplastic Syndrome, Beta-thalassaemia Patients) With Chronic Iron Overload Completed NCT00564941 Phase 4 deferasirox
5 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
6 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
7 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)
8 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
9 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
10 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
11 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
12 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
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 An Epidemiological Study to Assess the Prevalence of Iron Overload Using MRI in Patients With Transfusional Siderosis (TIMES Study) Completed NCT01736540 Phase 4
15 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:
16 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
17 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)
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 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
24 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
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 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 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 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
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 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 Amlodipine Use in the Prevention and Treatment of Iron Overload in Patients With Thalassemia Major Completed NCT01125254 Phase 2, Phase 3 Amlodipine
50 Therapeutic Erythrocytapheresis as Treatment for Hemochromatosis Patients. Completed NCT00202436 Phase 3

Search NIH Clinical Center for Rare Hereditary Hemochromatosis

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Genetic Tests for Rare Hereditary Hemochromatosis

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Anatomical Context for Rare Hereditary Hemochromatosis

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MalaCards organs/tissues related to Rare Hereditary Hemochromatosis:

41
Liver, Bone, Heart, Brain, Bone Marrow, Testes, Kidney
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Publications for Rare Hereditary Hemochromatosis

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Articles related to Rare Hereditary Hemochromatosis:

(show top 50) (show all 9006)
# Title Authors PMID Year
1
Long-term safety and efficacy of deferasirox in patients with myelodysplastic syndrome, aplastic anemia and other rare anemia in Taiwan. 38
30558522 2019
2
Beta-thalassemia: renal complications and mechanisms: a narrative review. 38
30947625 2019
3
Noninvasive assessment and risk factors of liver fibrosis in patients with thalassemia major using shear wave elastography. 38
30453843 2019
4
Differentially expressed plasma proteins of β-thalassemia/hemoglobin E patients in response to curcuminoids/vitamin E antioxidant cocktails. 38
30661467 2019
5
International sentinel site surveillance of patients with transfusional hemosiderosis treated with deferasirox in actual practice setting. 38
30558524 2019
6
The challenges of handling deferasirox in sickle cell disease patients older than 40 years. 38
31434554 2019
7
Deferoxamine inhibits iron-uptake stimulated osteoclast differentiation by suppressing electron transport chain and MAPKs signaling. 38
31238089 2019
8
Hematologic improvement with iron chelation therapy in myelodysplastic syndromes: Clinical data, potential mechanisms, and outstanding questions. 38
31228649 2019
9
Deferasirox in the management of iron-overload in patients with myelofibrosis: a multicentre study from the Rete Ematologica Lombarda (IRON-M study). 38
31106402 2019
10
Detection of hepatic steatosis and iron content at 3 Tesla: comparison of two-point Dixon, quantitative multi-echo Dixon, and MR spectroscopy. 38
31286208 2019
11
Challenges of blood transfusions in β-thalassemia. 38
31324412 2019
12
Unique classification of parathyroid dysfunction in patients with transfusion dependent thalassemia major using Nomogram-A cross sectional study. 38
31360455 2019
13
Rapid automated liver quantitative susceptibility mapping. 38
30637892 2019
14
MRI imaging and histopathological study of brain iron overload of β-thalassemic mice. 38
31128226 2019
15
Iron homeostasis and iron-regulated ROS in cell death, senescence and human diseases. 38
31229492 2019
16
ACG Clinical Guideline: Hereditary Hemochromatosis. 38
31335359 2019
17
Deferiprone exerts a dose-dependent reduction of liver iron in adults with iron overload. 38
31066943 2019
18
Management of the aging beta-thalassemia transfusion-dependent population - The Italian experience. 38
31416718 2019
19
Susceptibility based multiparametric quantification of liver disease: Non-invasive evaluation of steatosis and iron overload. 38
31425813 2019
20
Cardiac mucormycosis: a case report. 38
31436824 2019
21
Frequency of silent brain lesions and aspirin protection evaluation over 3 years follow-up in beta thalassemia patients. 38
31388698 2019
22
Atrial fibrillation in β-thalassemia patients with a focus on the role of iron-overload and oxidative stress: A review. 38
30536543 2019
23
Colla corii asini might upregulate ZNF471 and THOC5 by KRAB domain-containing zinc-finger protein pathway and THO complex subunit 5 pathway to improve anemia of pregnant women with β-thalassemia. 38
31098739 2019
24
Abnormal red blood cell morphological changes in thalassaemia associated with iron overload and oxidative stress. 38
31010830 2019
25
T2* Mapping Techniques: Iron Overload Assessment and Other Potential Clinical Applications. 38
31279448 2019
26
Iron overload and arrhythmias: Influence of confounding factors. 38
31410226 2019
27
Synthesis and Study of Multifunctional Cyclodextrin-Deferasirox Hybrids. 38
31162826 2019
28
High Dietary Iron Disrupts Iron Homeostasis and Induces Amyloid-β and Phospho-τ Expression in the Hippocampus of Adult Wild-Type and APP/PS1 Transgenic Mice. 38
31373375 2019
29
Iron and Atherosclerosis: The Link Revisited. 38
31230908 2019
30
Chronic iron exposure and c-Myc/H-ras-mediated transformation in fallopian tube cells alter the expression of EVI1, amplified at 3q26.2 in ovarian cancer. 38
31434871 2019
31
Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease. 38
31435670 2019
32
Iron accumulation causes impaired myogenesis correlated with MAPK signaling pathway inhibition by oxidative stress. 38
31145863 2019
33
Thyroid hemodynamic alterations in Egyptian patients with sickle cell disease: relation to disease severity, total body iron and thyroid function. 38
31206301 2019
34
Clinical and biological features in PIEZO1-hereditary xerocytosis and Gardos channelopathy: a retrospective series of 126 patients. 38
30655378 2019
35
G protein-coupled estrogen receptor (GPER) stimulation ameliorates iron- and ovariectomy-induced memory impairments through the cAMP/PKA/CREB signaling pathway. 38
31418949 2019
36
Newly Defined ATP-Binding Cassette Subfamily B Member 5 Positive Dermal Mesenchymal Stem Cells Promote Healing of Chronic Iron-Overload Wounds via Secretion of Interleukin-1 Receptor Antagonist. 38
31002437 2019
37
Computational and biological investigation of the soybean lecithin-gallic acid complex for ameliorating alcoholic liver disease in mice with iron overload. 38
31380553 2019
38
Hepcidin: A key regulator of iron. 38
31431773 2019
39
The BMP-SMAD pathway mediates the impaired hepatic iron metabolism associated with the ERFE-A260S variant. 38
31400017 2019
40
Delayed time from RBC transfusion dependence to first cardiac event in lower IPSS risk MDS patients receiving iron chelation therapy. 38
31229803 2019
41
Copper Deficiency in Liver Diseases: A Case Series and Pathophysiological Considerations. 38
31388635 2019
42
Effects of motion on MRI signal decay from micron-scale particles. 38
31284169 2019
43
Small alarmones (p)ppGpp regulate virulence associated traits and pathogenesis of Salmonella enterica serovar Typhi. 38
31013389 2019
44
Excess Iron Enhances Purine Catabolism Through Activation of Xanthine Oxidase and Impairs Myelination in the Hippocampus of Nursing Piglets. 38
31373370 2019
45
Role of Dietary Flavonoids in Iron Homeostasis. 38
31398897 2019
46
Antioxidant activity and cellular uptake of the hydroxamate-based fungal iron chelators pyridoxatin, desferriastechrome and desferricoprogen. 38
31152280 2019
47
Intracellular iron uptake is favored in Hfe-KO mouse primary chondrocytes mimicking an osteoarthritis-related phenotype. 38
31132316 2019
48
Hyperferritinemia in Nonalcoholic Fatty Liver Disease: Iron Accumulation or Inflammation? 38
31330553 2019
49
Genotype/phenotype correlations of childhood-onset congenital sideroblastic anaemia in a European cohort. 38
31338833 2019
50
Liver-Specific, but Not Retina-Specific, Hepcidin Knockout Causes Retinal Iron Accumulation and Degeneration. 38
31287995 2019
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Variations for Rare Hereditary Hemochromatosis

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Expression for Rare Hereditary Hemochromatosis

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

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GO Terms for Rare Hereditary Hemochromatosis

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Sources for Rare Hereditary Hemochromatosis

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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