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MCID: RRH023
MIFTS: 54

Rare Hereditary Hemochromatosis

Categories: Cardiovascular diseases, Endocrine diseases, Genetic diseases, Liver diseases, Metabolic diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways 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 58
Iron Overload 54 6 39
Iron Overload Disease 58

Characteristics:

Orphanet epidemiological data:

58
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: 33
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
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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 hemochromatosis, type 5 and congenital dyserythropoietic anemia. An important gene associated with Rare Hereditary Hemochromatosis is HFE (Homeostatic Iron Regulator), and among its related pathways/superpathways are TGF-beta signaling pathway (KEGG) and Mineral absorption. The drugs Deferiprone and Deferasirox have been mentioned in the context of this disorder. Affiliated tissues include liver, bone marrow and spleen, 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 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 454)
# Related Disease Score Top Affiliating Genes
1 hemochromatosis, type 5 32.4 TFR2 HJV HFE
2 congenital dyserythropoietic anemia 31.6 HFE HAMP
3 hemochromatosis, type 2a 31.3 HJV HAMP
4 anemia, congenital dyserythropoietic, type ia 31.2 HJV HAMP
5 iron overload in africa 31.2 TFR2 TF SLC40A1 HJV HFE HAMP
6 anemia, sideroblastic, 1 30.9 TFR2 SLC40A1 HJV HAMP
7 hypochromic microcytic anemia 30.9 TF HJV HAMP
8 hemochromatosis, type 4 30.8 TFR2 SLC40A1 HJV HFE HAMP
9 hemochromatosis, type 3 30.7 TFR2 SLC40A1 HJV HFE HAMP
10 hemochromatosis type 2 30.5 TFR2 SLC40A1 HJV HFE HAMP
11 atransferrinemia 30.2 TFR2 TF SLC40A1 HJV HFE HAMP
12 siderosis 30.2 TF SLC40A1 HFE HAMP
13 porphyria cutanea tarda 30.1 TFR2 TF SLC40A1 HJV HFE HAMP
14 arthropathy 30.1 HJV HFE HAMP
15 hyperferritinemia with or without cataract 30.0 TFR2 TF SLC40A1 HJV HFE HAMP
16 sideroblastic anemia 29.8 TFR2 SLC40A1 HFE HAMP
17 cutaneous porphyria 29.7 HFE HAMP
18 hemoglobin h disease 29.7 TF HAMP
19 mitochondrial dna depletion syndrome 3 29.6 SLC40A1 HJV
20 porphyria 29.6 TFR2 SLC40A1 HJV HFE HAMP
21 alpha-1-antitrypsin deficiency 29.5 HFE HAMP
22 aceruloplasminemia 29.4 TFR2 SLC40A1 HJV HFE HAMP
23 deficiency anemia 29.4 TFR2 TF SLC40A1 HJV HFE HAMP
24 congenital hemolytic anemia 29.4 TF HAMP
25 alcohol use disorder 29.3 TF HFE
26 hemosiderosis 29.0 TFR2 TF SLC40A1 HJV HFE HAMP
27 beta-thalassemia 28.8 TFR2 TF HJV HFE HAMP
28 iron deficiency anemia 28.8 TFR2 TF SLC40A1 HJV HFE HAMP
29 neurodegeneration with brain iron accumulation 28.7 TFR2 SLC40A1 HFE HAMP
30 microcytic anemia 28.7 TFR2 TF SLC40A1 HJV HFE HAMP
31 hemochromatosis, type 1 28.6 TFR2 TF SLC40A1 HJV HFE HAMP
32 hemoglobinopathy 28.4 TFR2 TF HJV HFE HAMP
33 iron metabolism disease 28.3 TFR2 TF SLC40A1 HJV HFE HAMP
34 hypochromic microcytic anemia with iron overload 11.8
35 anemia, hypochromic microcytic, with iron overload 2 11.7
36 anemia, hypochromic microcytic, with iron overload 1 11.7
37 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema 11.4
38 anemia, congenital dyserythropoietic, type ii 11.3
39 hemochromatosis, neonatal 11.3
40 anemia, sideroblastic, 3, pyridoxine-refractory 11.2
41 overhydrated hereditary stomatocytosis 11.2
42 genetic hyperferritinemia without iron overload 11.2
43 ferro-cerebro-cutaneous syndrome 11.2
44 zellweger syndrome 11.2
45 variegate porphyria 11.1
46 autosomal recessive pyridoxine-refractory sideroblastic anemia 2 11.1
47 anemia, sideroblastic, and spinocerebellar ataxia 11.1
48 anemia, sideroblastic, 4 11.1
49 anemia, sideroblastic, 2, pyridoxine-refractory 11.1
50 pyridoxine-responsive sideroblastic anemia 11.1

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:

58 31 (show all 15)
# 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 arthralgia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002829
4 joint swelling 58 31 hallmark (90%) Very frequent (99-80%) HP:0001386
5 generalized hyperpigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007440
6 hypogonadotropic hypogonadism 31 hallmark (90%) HP:0000044
7 increased circulating ferritin concentration 31 hallmark (90%) 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 congenital hepatic fibrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002612
11 cardiomyopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001638
12 neoplasm of the liver 58 31 occasional (7.5%) Occasional (29-5%) HP:0002896
13 hypogonadotrophic hypogonadism 58 Very frequent (99-80%)
14 increased serum ferritin 58 Very frequent (99-80%)
15 abnormal joint morphology 58 Very frequent (99-80%)

MGI Mouse Phenotypes related to Rare Hereditary Hemochromatosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 liver/biliary system MP:0005370 8.92 HFE HJV SLC40A1 TFR2
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 68)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Deferiprone Approved Phase 4 30652-11-0 2972
2
Deferasirox Approved, Investigational Phase 4 201530-41-8 5493381 214348
3
Iron Approved Phase 4 7439-89-6 23925 29936
4
Vitamin C Approved, Nutraceutical Phase 4 50-81-7 5785 54670067
5
Trichostatin A Experimental Phase 4 58880-19-6
6 Liver Extracts Phase 4
7 Pharmaceutical Solutions Phase 4
8 Antioxidants Phase 4
9 Trace Elements Phase 4
10 Vitamins Phase 4
11 Nutrients Phase 4
12 Micronutrients Phase 4
13 Protective Agents Phase 4
14 Chelating Agents Phase 4
15 Iron Chelating Agents Phase 4
16 Cyclosporins Phase 4
17 Immunosuppressive Agents Phase 4
18
Zinc Approved, Investigational Phase 3 7440-66-6 32051
19
Deferoxamine Approved, Investigational Phase 3 70-51-9 2973
20
Hydroxyurea Approved Phase 2, Phase 3 127-07-1 3657
21
carbamide peroxide Approved Phase 2, Phase 3 124-43-6
22
Darbepoetin alfa Approved, Investigational Phase 2, Phase 3 209810-58-2, 11096-26-7
23
Amlodipine Approved Phase 3 88150-42-9 2162
24 Orange Approved Phase 3
25
tannic acid Approved Phase 3 1401-55-4
26
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
27 Zinc Supplement Phase 3
28 silymarin Phase 2, Phase 3
29 Omega 3 Fatty Acid Phase 2, Phase 3
30 Nigella Phase 2, Phase 3
31 Calcium, Dietary Phase 3
32 Ferric Oxide, Saccharated Phase 2, Phase 3
33 Epoetin alfa Phase 2, Phase 3 113427-24-0
34 Antihypertensive Agents Phase 3
35 Hormones Phase 3
36 Vasodilator Agents Phase 3
37 calcium channel blockers Phase 3
38
Calcium Nutraceutical Phase 3 7440-70-2 271
39
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved Phase 2 65-23-6 1054
40 Hepcidins Phase 2
41 Vitamin B 6 Phase 2
42 Anti-Infective Agents Phase 2
43
Pyridoxal Experimental, Nutraceutical Phase 2 66-72-8 1050
44
Nifedipine Approved Phase 1 21829-25-4 4485
45
Acetylcysteine Approved, Investigational Phase 1 616-91-1 12035
46
Cysteine Approved, Nutraceutical Phase 1 52-90-4 5862
47 Tocolytic Agents Phase 1
48 Respiratory System Agents Phase 1
49 Antiviral Agents Phase 1
50 Expectorants Phase 1

Interventional clinical trials:

(show top 50) (show all 167)
# Name Status NCT ID Phase Drugs
1 The Efficacy and Safety of Ferriprox® for the Treatment of Transfusional Iron Overload in Patients With Sickle Cell Disease or Other Anemias Unknown status NCT02041299 Phase 4 Deferiprone;Deferoxamine
2 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
3 Safety and Efficacy of Early-start Deferiprone Treatment in Infants and Young Children Newly Diagnosed With Transfusion-dependent Beta Thalassemia Completed NCT03591575 Phase 4 Deferiprone oral solution;Placebo
4 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
5 A One-year, Open-label, Single Arm, Multi-center Trial Evaluating the Efficacy and Safety of Oral ICL670 in Patients Diagnosed With Low and INT-1 Risk Myelodysplastic Syndrome (MDS) and Transfusion-dependent Iron Overload Completed NCT00481143 Phase 4 ICL670/Deferasirox
6 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 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
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 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
10 A Single-arm Interventional Phase IV, Post-authorisation Study Evaluating the Safety of Pediatric Patients With Transfusional Hemosiderosis Treated With Deferasirox Crushed Film Coated Tablets Completed NCT03372083 Phase 4 Deferasirox
11 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
12 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)
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 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
15 Evaluating the Efficacy of Deferasirox in Transfusion Dependent Chronic Anaemias (Myelodysplastic Syndrome, Beta-thalassaemia Patients) With Chronic Iron Overload Completed NCT00564941 Phase 4 deferasirox
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 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
18 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
19 Effects of Ascorbic Acid Administration in the Treatment of Anemia in Chronic Hemodialysed Patients With Iron Overload Recruiting NCT02225886 Phase 4 Ascorbic Acid
20 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
21 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
22 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
23 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
24 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
25 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
26 An Extension Study of Iron Chelation Therapy With Deferasirox (ICL670)in β-thalassemia Patients With Transfusional Iron Overload Completed NCT00171210 Phase 3 Deferasirox
27 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
28 Impact of Combination Therapy Between Hydroxy Urea, Omega 3, Nigella Sativa and Honey on Antioxidant-oxidant Status and Reduction of Iron Overload in Pediatric Major Thalassemia Completed NCT04292314 Phase 2, Phase 3 Omega 3;Nigella Sativa Oil;Hydroxyurea;Honey;Deferoxamine
29 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
30 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
31 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
32 A 24-Week, Open Label, Uncontrolled Study of the Safety and Efficacy of Ferriproxâ„¢ (Deferiprone) Oral Solution in Iron Overloaded Pediatric Patients With Transfusion-Dependent Anemia Completed NCT00529152 Phase 3 Deferiprone
33 Darbepoetin-alpha and i.v. Iron Administration After Autologous Hematopoietic Stem Cell Transplantation : a Prospective Randomized Trial Completed NCT00557817 Phase 2, Phase 3 Darbepoetin alpha (Aranesp);Iron saccharate (Venofer)
34 Amlodipine in the Prevention and Treatment of Iron Overload in Patients With Thalassemia Major: a Randomized, Controlled Trial Completed NCT01395199 Phase 3 Amlodipine
35 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
36 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
37 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
38 Amlodipine Use in the Prevention and Treatment of Iron Overload in Patients With Thalassemia Major Completed NCT01125254 Phase 2, Phase 3 Amlodipine
39 Efficacy and Safety of the Iron Chelator Deferiprone on Iron Overload in the Brain in Parkinson's Disease Completed NCT00943748 Phase 2, Phase 3 deferiprone;placebo
40 Randomized Open-label Phase III Study With Deferiprone and/or Desferrioxamine in Iron Overloaded Patients Completed NCT00350662 Phase 3 Deferiprone (L1);Desferrioxamine
41 Dose Escalating Study to Evaluate Pharmacokinetics, Efficacy and Safety of Apotransferrin in Atransferrinemia Patients Recruiting NCT01797055 Phase 2, Phase 3 Human apotransferrin
42 Influence of Iron Depletion by Phlebotomy on the Risk of Hepatocellular Carcinoma Occurrence in Patients With Compensated Alcoholic Cirrhosis. Prospective, Multicentre, Randomized Trial Terminated NCT01342705 Phase 3
43 Clinical Importance of Treating Iron Overload in Sickle Cell Disease Terminated NCT00981370 Phase 3 deferasirox
44 A Multi-Center, Randomized, Open-Label, Parallel Group Study With LJPC-401 for the Treatment of Myocardial Iron Overload in Adult Patients With Transfusion-Dependent Beta Thalassemia Unknown status NCT03381833 Phase 2 LJPC-401;LJPC-401
45 A Phase II, Open Label Clinical Trial Exploring the Safety and the Efficacy of Oral Deferasirox in Patients Newly Diagnosed With Porphyria Cutanea Tarda (PCT) and Non-transfusion Iron Overload Unknown status NCT01284946 Phase 2 Exjade
46 A Multicenter, Randomized, Open-label Phase II Trial Evaluating Deferasirox Compared With Deferoxamine in Patients With Cardiac Iron Overload Due to Chronic Blood Transfusions Completed NCT00600938 Phase 2 Core Study: Deferasirox;Core Study: Deferoxamine;Extension: deferoxamine to deferasirox;Extension: deferasirox to deferoxamine;Deferasirox;Deferoxamine
47 Extension Study of Iron Chelation Therapy With Deferasirox in β-thalassemia and Other Patients With Rare Chronic Anemia and Transfusional Iron Overload Completed NCT00303329 Phase 2 Deferasirox
48 Safety and Acceptability of Deferiprone Delayed Release Tablets in Patients With Systemic Iron Overload Completed NCT03802916 Phase 2 Deferiprone DR tablets 1000 mg (Low dosage);Deferiprone DR tablets 1000 mg (High dosage)
49 Cytochrome P450 2E1 and Iron Overload Completed NCT00138684 Phase 2
50 A Randomized, Open Label, Phase II Study on Safety and Efficacy of Long Term Treatment of ICL670 Relative to Deferoxamine in Sickle Cell Disease Patients With Transfusional Hemosiderosis Completed NCT00067080 Phase 2 ICL670, deferoxamine

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:

40
Liver, Bone Marrow, Spleen, Pituitary, Pancreas, Endothelial, Myeloid
Sources

Publications for Rare Hereditary Hemochromatosis

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Articles related to Rare Hereditary Hemochromatosis:

(show top 50) (show all 9717)
# Title Authors PMID Year
1
Glutaredoxin 5 deficiency causes sideroblastic anemia by specifically impairing heme biosynthesis and depleting cytosolic iron in human erythroblasts. 54 61
20364084 2010
2
Levels of plasma ceruloplasmin protein are markedly lower following dietary copper deficiency in rodents. 54 61
20170749 2010
3
Expression and function of iron-regulatory proteins in retina. 54 61
20408179 2010
4
Down-regulation of Bmp/Smad signaling by Tmprss6 is required for maintenance of systemic iron homeostasis. 61 54
20200349 2010
5
Iron excess in recreational marathon runners. 61 54
20197784 2010
6
Highly sensitivity adhesion molecules detection in hereditary haemochromatosis patients reveals altered expression. 54 61
20193033 2010
7
Risk factors for near-term myocardial infarction in apparently healthy men and women. 61 54
20185621 2010
8
Understanding the molecular mechanisms of Friedreich's ataxia to develop therapeutic approaches. 54 61
20413654 2010
9
HAMP promoter mutation nc.-153C>T in non p.C282Y homozygous patients with iron overload. 61 54
20007134 2010
10
Genetic and metabolic factors are associated with increased hepatic iron stores in a selected population of p.Cys282Tyr heterozygotes. 61 54
20117027 2010
11
Clinical presentation and molecular pathophysiology of autosomal dominant hemochromatosis caused by a novel ferroportin mutation. 54 61
19937651 2010
12
The role of iron overload and HFE gene mutations in the era of pegylated interferon and ribavirin treatment of chronic hepatitis C. 54 61
20190684 2010
13
HFE gene mutations and Wilson's disease in Sardinia. 54 61
19640812 2010
14
The diagnosis and management of hereditary haemochromatosis. 61 54
20179792 2010
15
HFE gene mutations and iron status of Brazilian blood donors. 54 61
20027482 2010
16
Stoichiometries of transferrin receptors 1 and 2 in human liver. 54 61
19819738 2010
17
Friedreich's ataxia: oxidative stress and cytoskeletal abnormalities. 61 54
19748629 2009
18
Potential nonresponse bias in a clinical examination after initial screening using iron phenotyping and HFE genotyping in the hemochromatosis and iron overload screening study. 54 61
19860558 2009
19
Mutations in HFE causing hemochromatosis are associated with primary hypertriglyceridemia. 54 61
19820015 2009
20
Hemochromatosis: as a conformational disorder. 61 54
19375516 2009
21
Not all DMT1 mutations lead to iron overload. 61 54
19553145 2009
22
Haemochromatosis HFE gene polymorphisms as potential modifiers of hereditary nonpolyposis colorectal cancer risk and onset age. 61 54
19291797 2009
23
Transferrin and ferritin response to bacterial infection: the role of the liver and brain in fish. 61 54
19428486 2009
24
Ferroportin-1 in the recurrence of hepatic iron overload after liver transplantation. 54 61
18337195 2009
25
Daily regulation of serum and urinary hepcidin is not influenced by submaximal cycling exercise in humans with normal iron metabolism. 54 61
19306018 2009
26
The impact of hemochromatosis mutations and transferrin genotype on gonadotropin serum levels in infertile men. 61 54
18395717 2009
27
Does the SLC40A1 gene modify HFE-related haemochromatosis phenotypes? 54 61
18820912 2009
28
Nramp1 promotes efficient macrophage recycling of iron following erythrophagocytosis in vivo. 54 61
19321419 2009
29
[Study on HFE gene mutations in patients with myelodysplastic syndromes and aplastic anemia]. 61 54
19731820 2009
30
A new missense mutation in the L ferritin coding sequence associated with elevated levels of glycosylated ferritin in serum and absence of iron overload. 61 54
19176363 2009
31
Predicting iron overload in hyperferritinemia. 54 61
19095082 2009
32
HFE C282Y homozygosity is associated with lower total and low-density lipoprotein cholesterol: The hemochromatosis and iron overload screening study. 54 61
20031565 2009
33
Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels. 54 61
19084217 2009
34
Rare types of genetic hemochromatosis. 61 54
19907151 2009
35
Knockdown of beta2-microglobulin perturbs the subcellular distribution of HFE and hepcidin. 61 54
19059216 2009
36
Severe iron overload with a novel aminolevulinate synthase mutation and hepatitis C infection. A case report. 54 61
18823803 2009
37
Hemojuvelin: the hepcidin story continues. 61 54
19287179 2009
38
New pharmacological concepts for the treatment of iron overload disorders. 54 61
19199923 2009
39
Reactive oxygen species regulate ceruloplasmin by a novel mRNA decay mechanism involving its 3'-untranslated region: implications in neurodegenerative diseases. 54 61
19019832 2009
40
Mutant HFE genotype leads to significant iron overload in patients with liver diseases from western Romania. 54 61
19433916 2009
41
Down-regulation of hepcidin in porphyria cutanea tarda. 61 54
18809758 2008
42
A new 500 kb haplotype associated with high CD8+ T-lymphocyte numbers predicts a less severe expression of hereditary hemochromatosis. 54 61
18990219 2008
43
Hemojuvelin N-terminal mutants reach the plasma membrane but do not activate the hepcidin response. 61 54
18827264 2008
44
Recent advances in the understanding of inherited sideroblastic anaemia. 61 54
18637800 2008
45
C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload. 54 61
18760763 2008
46
Hereditary hemochromatosis in the post-HFE era. 61 54
18752323 2008
47
[Old and new iron parameters in iron metabolism and diagnostics]. 61 54
18791966 2008
48
Revaluation of clinical and histological criteria for diagnosis of dysmetabolic iron overload syndrome. 61 54
18720534 2008
49
Accuracy of family history of hemochromatosis or iron overload: the hemochromatosis and iron overload screening study. 61 54
18585964 2008
50
Iron-dependent regulation of frataxin expression: implications for treatment of Friedreich ataxia. 61 54
18424449 2008
Sources

Variations for Rare Hereditary Hemochromatosis

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ClinVar genetic disease variations for Rare Hereditary Hemochromatosis:

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

Expression for Rare Hereditary Hemochromatosis

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

Pathways for Rare Hereditary Hemochromatosis

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Pathways related to Rare Hereditary Hemochromatosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
TGF-beta signaling pathway (KEGG) 36
11.29 HJV HAMP
2
Mineral absorption 36
11.03 TF SLC40A1
3
Ferroptosis 36
10.77 TF SLC40A1
4
Iron metabolism in placenta 1
10 TFR2 TF SLC40A1 HAMP
5
Hfe effect on hepcidin production 1
9.98 HJV HFE HAMP
Sources

GO Terms for Rare Hereditary Hemochromatosis

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Cellular components related to Rare Hereditary Hemochromatosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.46 TF HJV HFE HAMP
2 recycling endosome GO:0055037 9.26 TF HFE
3 basal part of cell GO:0045178 8.96 TF HFE
4 HFE-transferrin receptor complex GO:1990712 8.92 TFR2 TF HJV HFE

Biological processes related to Rare Hereditary Hemochromatosis according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.72 TF SLC40A1 HFE
2 BMP signaling pathway GO:0030509 9.54 HJV HFE
3 acute-phase response GO:0006953 9.54 TFR2 HFE HAMP
4 liver regeneration GO:0097421 9.52 HFE HAMP
5 positive regulation of receptor-mediated endocytosis GO:0048260 9.51 TF HFE
6 transferrin transport GO:0033572 9.5 TFR2 TF HFE
7 iron ion transport GO:0006826 9.49 TFR2 TF
8 positive regulation of peptide hormone secretion GO:0090277 9.48 TFR2 HFE
9 multicellular organismal iron ion homeostasis GO:0060586 9.46 SLC40A1 HAMP
10 response to iron ion starvation GO:1990641 9.43 HFE HAMP
11 response to iron ion GO:0010039 9.43 TFR2 HFE HAMP
12 cellular iron ion homeostasis GO:0006879 9.43 TFR2 TF SLC40A1 HJV HFE HAMP
13 regulation of iron ion transport GO:0034756 9.4 TF HFE
14 cellular response to iron ion GO:0071281 9.33 TFR2 TF HFE
15 iron ion homeostasis GO:0055072 9.1 TFR2 TF SLC40A1 HJV HFE HAMP

Molecular functions related to Rare Hereditary Hemochromatosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 co-receptor binding GO:0039706 8.96 TFR2 HFE
2 transferrin receptor binding GO:1990459 8.8 TF HJV HFE
Sources

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
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 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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