HFE3
MCID: HMC010
MIFTS: 44

Hemochromatosis, Type 3 (HFE3)

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

Aliases & Classifications for Hemochromatosis, Type 3

MalaCards integrated aliases for Hemochromatosis, Type 3:

Name: Hemochromatosis, Type 3 57 13 55 44 40 73
Hemochromatosis Type 3 12 76 53 59 29 6 15
Hemochromatosis Due to Defect in Transferrin Receptor 2 57 12 53 75
Hfe3 57 12 53 75
Tfr2-Related Hemochromatosis 12 59
Tfr2-Related Hereditary Hemochromatosis 53
Hemochromatosis 3 75

Characteristics:

Orphanet epidemiological data:

59
hemochromatosis type 3
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
hemochromatosis, type 3:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 604250
Disease Ontology 12 DOID:0111030
Orphanet 59 ORPHA225123
MESH via Orphanet 45 C537248
UMLS via Orphanet 74 C1858664
ICD10 via Orphanet 34 E83.1
MedGen 42 C1858664
UMLS 73 C1858664

Summaries for Hemochromatosis, Type 3

NIH Rare Diseases : 53 Hemochromatosis type 3 is a disease in which too much iron builds up in the body. This is also called iron overload. Accumulation of iron in the organs is toxic and can cause organ damage. While many organs can be affected, iron overload is especially likely to affect the liver, heart, and pancreas. Early symptoms of hemochromatosis type 3 can include fatigue, weakness, and joint pain. Other symptoms may include abdominal pain, loss of sex drive, liver disease, diabetes, heart problems, and skin discoloration. Symptoms of hemochromatosis type 3 typically begin before 30-years-old. Hemochromatosis type 3 is caused by genetic changes (mutations or pathogenic variants) to the TFR2 gene. The disease is inherited in an autosomal recessive manner. A diagnosis of hemochromatosis type 3 is suspected when a doctor observes signs and symptoms of the disease. A doctor may decide to order laboratory tests including a liver biopsy, MRI, or blood test. The diagnosis can be confirmed with genetic testing. Treatment of hemochromatosis type 3 usually involves reducing iron levels by removing blood (phlebotomy) or iron chelation. These treatments can prevent additional organ damage but typically do not reverse existing damage. To learn more about other types of hemochromatosis click on the disease names below:Hemochromatosis type 1 Hemochromatosis type 2 Hemochromatosis type 4 Hemochromatosis type 5 Neonatal hemochromatosis

MalaCards based summary : Hemochromatosis, Type 3, also known as hemochromatosis type 3, is related to hemochromatosis, type 1 and hemochromatosis, type 4, and has symptoms including fatigue An important gene associated with Hemochromatosis, Type 3 is TFR2 (Transferrin Receptor 2), and among its related pathways/superpathways are Iron metabolism in placenta and Hfe effect on hepcidin production. The drugs Iron and Omeprazole have been mentioned in the context of this disorder. Affiliated tissues include skin, liver and heart, and related phenotypes are arthritis and fatigue

Disease Ontology : 12 A hemochromatosis that has material basis in homozygous or compound heterozygous mutation in the TFR2 gene on chromosome 7q22.

UniProtKB/Swiss-Prot : 75 Hemochromatosis 3: A disorder of iron metabolism characterized by iron overload. Excess iron is deposited in a variety of organs leading to their failure, and resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe effects of the disease usually do not appear until after decades of progressive iron loading.

Wikipedia : 76 Haemochromatosis type 3 is a type of Iron overload disorder associated with deficiencies in transferrin... more...

Description from OMIM: 604250

Related Diseases for Hemochromatosis, Type 3

Diseases in the Juvenile 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 Hemochromatosis, Type 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 24)
# Related Disease Score Top Affiliating Genes
1 hemochromatosis, type 1 31.2 HAMP HFE HJV SLC40A1 TFR2
2 hemochromatosis, type 4 30.7 HAMP HFE HJV SLC40A1 TFR2
3 hemochromatosis type 2 30.7 HAMP HFE HJV SLC40A1 TFR2
4 hemosiderosis 29.3 HAMP HFE SLC40A1
5 tfr2-related hereditary hemochromatosis 11.2
6 hemochromatosis, neonatal 11.1
7 hemochromatosis, type 5 11.1
8 juvenile hereditary hemochromatosis 10.1
9 siderosis 10.0 HFE SLC40A1
10 rhizomelic chondrodysplasia punctata, type 2 9.8 HAMP HFE
11 atrial standstill 1 9.8 HFE HJV
12 beta-thalassemia 9.8 HFE TFR2
13 hemoglobinopathy 9.8 HAMP HFE
14 hemochromatosis, type 2a 9.8 HAMP HJV
15 porphyria cutanea tarda 9.8 HAMP HFE
16 hfe-associated hereditary hemochromatosis 9.8 HFE HJV TFR2
17 iron metabolism disease 9.6 HFE HJV SLC40A1 TFR2
18 iron overload in africa 9.5 HAMP HFE SLC40A1 TFR2
19 inherited metabolic disorder 9.5 HAMP HFE HJV TFR2
20 aceruloplasminemia 9.5 HAMP HFE HJV TFR2
21 metal metabolism disorder 9.3 HAMP HFE HJV SLC40A1 TFR2
22 atransferrinemia 9.3 HAMP HFE HJV SLC40A1 TFR2
23 iron deficiency anemia 9.3 HAMP HFE HJV SLC40A1 TFR2
24 deficiency anemia 9.3 HAMP HFE HJV SLC40A1 TFR2

Graphical network of the top 20 diseases related to Hemochromatosis, Type 3:



Diseases related to Hemochromatosis, Type 3

Symptoms & Phenotypes for Hemochromatosis, Type 3

Symptoms via clinical synopsis from OMIM:

57
Skeletal:
arthritis

Hematology:
anemia
lymphopenia
neutropenia
thrombocytopenic purpura

Cardiovascular Heart:
cardiomyopathy

Genitourinary Internal Genitalia Male:
impotence
decreased libido

Genitourinary Internal Genitalia Female:
amenorrhea

Endocrine Features:
diabetes

Neurologic Behavioral Psychiatric Manifestations:
fatigue

Abdomen Liver:
cirrhosis
fibrosis

Genitourinary External Genitalia Male:
hypogonadism

Laboratory Abnormalities:
increased serum ferritin
increased serum iron
increased transferrin saturation
increased liver transaminases

Skin Nails Hair Skin:
hyperpigmentation


Clinical features from OMIM:

604250

Human phenotypes related to Hemochromatosis, Type 3:

32 (show all 15)
# Description HPO Frequency HPO Source Accession
1 arthritis 32 HP:0001369
2 fatigue 32 HP:0012378
3 anemia 32 HP:0001903
4 cirrhosis 32 HP:0001394
5 cardiomyopathy 32 HP:0001638
6 hypogonadotrophic hypogonadism 32 HP:0000044
7 lymphopenia 32 HP:0001888
8 purpura 32 HP:0000979
9 neutropenia 32 HP:0001875
10 impotence 32 HP:0000802
11 increased serum ferritin 32 HP:0003281
12 increased serum iron 32 HP:0003452
13 hyperpigmentation of the skin 32 HP:0000953
14 amenorrhea 32 HP:0000141
15 elevated hepatic transaminase 32 HP:0002910

UMLS symptoms related to Hemochromatosis, Type 3:


fatigue

MGI Mouse Phenotypes related to Hemochromatosis, Type 3:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 liver/biliary system MP:0005370 8.92 HFE HJV SLC40A1 TFR2

Drugs & Therapeutics for Hemochromatosis, Type 3

Drugs for Hemochromatosis, Type 3 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 51)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iron Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 7439-89-6 23925
2
Omeprazole Approved, Investigational, Vet_approved Phase 4 73590-58-6 4594
3
Deferoxamine Approved, Investigational Phase 4,Phase 3,Phase 2 70-51-9 2973
4
Deferasirox Approved, Investigational Phase 4,Phase 2,Phase 1 201530-41-8 5493381
5
Deferiprone Approved Phase 4,Phase 3,Phase 2,Phase 1 30652-11-0 2972
6 Antacids Phase 4,Not Applicable
7 Anti-Ulcer Agents Phase 4,Not Applicable
8 Proton Pump Inhibitors Phase 4,Not Applicable
9 Gastrointestinal Agents Phase 4,Not Applicable
10 Liver Extracts Phase 4,Not Applicable
11 Chelating Agents Phase 4,Phase 3,Phase 2,Phase 1
12 Iron Chelating Agents Phase 4,Phase 3,Phase 2,Phase 1
13
Hydroxyurea Approved Phase 3 127-07-1 3657
14
Ethanol Approved Phase 3 64-17-5 702
15 Nucleic Acid Synthesis Inhibitors Phase 3
16 Pharmaceutical Solutions Phase 2, Phase 3
17
Vitamin D Approved, Nutraceutical, Vet_approved Phase 2 1406-16-2
18
Vitamin D3 Approved, Nutraceutical Phase 2 67-97-0 5280795 6221
19
Ergocalciferol Approved, Nutraceutical Phase 2 50-14-6 5280793
20 Antirheumatic Agents Phase 2
21 Interleukin 1 Receptor Antagonist Protein Phase 2
22 Hepcidins Phase 2
23 Trace Elements Phase 2,Phase 1,Not Applicable
24 Micronutrients Phase 2,Phase 1,Not Applicable
25 Anti-Infective Agents Phase 2
26 Vitamins Phase 2
27 Ergocalciferols Phase 2
28 Bone Density Conservation Agents Phase 2
29 Calciferol Phase 2
30 Vitamin D2 Phase 2
31 Calcium, Dietary Phase 2,Phase 1
32 Immunologic Factors Phase 1, Phase 2
33 Vaccines Phase 1, Phase 2
34
Nifedipine Approved Phase 1 21829-25-4 4485
35 Vasodilator Agents Phase 1
36 calcium channel blockers Phase 1
37 Tocolytic Agents Phase 1
38
Pantoprazole Approved Not Applicable 102625-70-7 4679
39
Tacrolimus Approved, Investigational 104987-11-3 445643 439492
40
Zinc Approved, Investigational 7440-66-6
41 Kava Approved, Investigational, Nutraceutical 9000-38-8
42 Trichostatin A
43 Hematinics
44 Immunosuppressive Agents
45 Calcineurin Inhibitors
46 Iron Supplement Not Applicable
47
Bilirubin 635-65-4 5280352
48 Hypoglycemic Agents
49 insulin
50 Insulin, Globin Zinc

Interventional clinical trials:

(show top 50) (show all 61)
# Name Status NCT ID Phase Drugs
1 Evaluation of the Efficacy in Decreasing Iron Absorption in Patients With Congenital Dyserythropoietic Anemia Type I by Treatment With LOSEC Unknown status NCT01795794 Phase 4 omeprazole
2 Pilot Study for Patients With Poor Response to Deferasirox Completed NCT00749515 Phase 4 Deferoxamine;Deferasirox
3 Efficacy Study of the Use of Sequential DFP-DFO Versus DFP Completed NCT00733811 Phase 4 Deferiprone (DFP) and Deferoxamine (DFO);Deferiprone (DFP)
4 Erythrocytapheresis Versus Phlebotomy as Maintenance Therapy in Hereditary Hemochromatosis (HH) Patients Unknown status NCT01398644 Phase 3
5 Haemochromatosis:Phlebotomy Versus Erythrocytapheresis Therapy Completed NCT00202436 Phase 3
6 Clinical Management of Hereditary Hemochromatosis: Phlebotomy vs. Erythrocytoapheresis Completed NCT00440986 Phase 2, Phase 3
7 Study With Deferiprone and/or Desferrioxamine in Iron Overloaded Patients Completed NCT00350662 Phase 3 Deferiprone (L1);Desferrioxamine
8 Stroke With Transfusions Changing to Hydroxyurea Terminated NCT00122980 Phase 3 Hydroxyurea
9 Efficacy and Safety of the Iron Chelator Deferiprone in Parkinson's Disease Completed NCT00943748 Phase 2, Phase 3 deferiprone;placebo
10 Screening of Hepatocellular Carcinoma in Patients With Compensated Cirrhosis Completed NCT00190385 Phase 3
11 Treatment of Refractory Hemochromatosis Rheumatism by Anakinra: a Preliminary Phase II Study Recruiting NCT02263638 Phase 2 Anakinra
12 A Two-year Study to Evaluate the Efficacy and Safety of Deferasirox Film-coated Tablet Versus Phlebotomy in Patients With Hereditary Hemochromatosis. Recruiting NCT03203850 Phase 2 Deferasirox FCT
13 A Study of LJPC-401 for the Treatment of Iron Overload in Adult Patients With Hereditary Hemochromatosis Recruiting NCT03395704 Phase 2 LJPC-401;Placebo
14 Treatment of Iron Overload With Deferasirox (Exjade) in Hereditary Hemochromatosis and Myelodysplastic Syndrome Terminated NCT01892644 Phase 2 Deferasirox;Deferasirox
15 Safety and Efficacy of Deferasirox (ICL670) in Patients With Iron Overload Resulting From Hereditary Hemochromatosis Completed NCT00395629 Phase 1, Phase 2 Deferasirox (ICL670)
16 Study Using Deferiprone Alone or in Combination With Desferrioxamine in Iron Overloaded Transfusion-dependent Patients Completed NCT00349453 Phase 2 Deferiprone (L1);Deferiprone (L1);Desferrioxamine
17 Evaluation of Subcutaneous Desferrioxamine as Treatment for Transfusional Hemochromatosis Completed NCT00000595 Phase 2 deferoxamine
18 Analysis of the Modulation of Serum Hepcidin Level in Response to Iron Oral Intake: Potential Interest for the Differential Diagnosis Between Ferroportin Disease and Dysmetabolic Hepatosiderosis. Recruiting NCT01949467 Phase 2 iron fumarate
19 The Deferasirox-calcium-vitamin D3 Therapy for Postmenopausal Osteoporosis (PMOP) Recruiting NCT02854722 Phase 2 Deferasirox and calcium-vitamin D3;Calcium-vitamin D3
20 Trial of Therapeutic Vaccine in Patients With Cholangiocarcinoma Recruiting NCT03042182 Phase 1, Phase 2
21 Oral Nifedipine to Treat Iron Overload Completed NCT00712738 Phase 1 Nifedipine
22 Implications for Quality of Life and Quality of Care in Patients With Hereditary Haemochromatosis Unknown status NCT01991925
23 Erythrocyte Apheresis Versus Phlebotomy in Hemochromatosis Unknown status NCT00509652 Not Applicable
24 Proton Pump Inhibitors in the Prevention of Iron Reaccumulation in Patient With Hereditary Hemochromatosis Unknown status NCT01524757 Not Applicable Pantoprazole
25 Estimation of Myocardial Iron Overload by 3 Tesla MRI in HFE Hereditary Haemochromatosis Completed NCT02099214 Not Applicable
26 Treatment of Hemochromatosis Recruiting NCT00007150
27 Impact of Bloodletting on Iron Metabolism in Type 1 Hemochromatosis Recruiting NCT01810965 Not Applicable
28 HEPFER-Evaluation of a New Phenotypic Biological Marker in Genetic Type 1 Hemochromatosis Completed NCT01784939
29 Bone Status on Patients With Genetic Hemochromatosis: a 3 Years Descriptive and Evolutionary Study Completed NCT01556360
30 Respiratory Variations For Assessing Blood Withdrawal Completed NCT03066414
31 Cardiac Function in Patients With Hereditary Hemochromatosis Active, not recruiting NCT00068159
32 Transferrin Saturation and Asthenia in Hemochromatosis Recruiting NCT03356548
33 Deferoxamine for the Treatment of Hemochromatosis Completed NCT00001203
34 Evaluation of a New MR Pulse Sequence to Quantify Liver Iron Concentration Completed NCT00587535
35 Hemochromatosis--Genetic Prevalence and Penetrance Completed NCT00006312
36 Statistical Basis for Hemochromatosis Screening Completed NCT00005559
37 Study of the Cellular Diffusion of Tacrolimus Across the Membrane of Mononuclear Cells Completed NCT03654794
38 Hemochromatosis and Iron Overload Screening Study (HEIRS) Completed NCT00005541
39 Mi-iron - Moderately Increased Iron - is Reducing Iron Overload Necessary? Completed NCT01631708 Not Applicable
40 Effects of Polyphenols on Iron Absorption in Iron Overload Disorders. Completed NCT03453918 Not Applicable
41 World Mosquito Program Noumea - Human Sample Component Not yet recruiting NCT03552094
42 Iron Overload in African Americans Completed NCT00001455
43 Impact of Host Iron Status and Iron Supplement Use on Erythrocytic Stage of Plasmodium Falciparum Completed NCT01027663 Not Applicable
44 Research Network for Neonatal Diseases Induced by Tissular Fetomaternal Alloimmunization Completed NCT00199628
45 Confounder-Corrected Quantitative MRI Biomarker of Hepatic Iron Content Recruiting NCT02025543
46 Long Term Follow-up of Integra® Cadence™ Total Ankle System in Primary Ankle Joint Replacement Recruiting NCT03247023
47 China Registry for Genetic / Metabolic Liver Diseases Recruiting NCT03131427 Standard of care
48 Genes Influencing Iron Overload State Active, not recruiting NCT01158794
49 Evaluation of Patients With Liver Disease Recruiting NCT00001971
50 Study of the Pathogenesis of Porphyria Cutanea Tarda Completed NCT00005103

Search NIH Clinical Center for Hemochromatosis, Type 3

Cochrane evidence based reviews: hemochromatosis, type 3

Genetic Tests for Hemochromatosis, Type 3

Genetic tests related to Hemochromatosis, Type 3:

# Genetic test Affiliating Genes
1 Hemochromatosis Type 3 29 TFR2

Anatomical Context for Hemochromatosis, Type 3

MalaCards organs/tissues related to Hemochromatosis, Type 3:

41
Skin, Liver, Heart, Testes, Pancreas

Publications for Hemochromatosis, Type 3

Articles related to Hemochromatosis, Type 3:

# Title Authors Year
1
Small Molecule Inhibitors of NFkB Reverse Iron Overload and Hepcidin Deregulation in a Zebrafish Model for Hereditary Hemochromatosis Type 3. ( 29897731 )
2018
2
Functional consequences of transferrin receptor-2 mutations causing hereditary hemochromatosis type 3. ( 26029709 )
2015
3
Iron absorption and hepatic iron uptake are increased in a transferrin receptor 2 (Y245X) mutant mouse model of hemochromatosis type 3. ( 16935854 )
2007
4
Clinical and pathologic findings in hemochromatosis type 3 due to a novel mutation in transferrin receptor 2 gene. ( 11984516 )
2002
5
New mutations inactivating transferrin 2 in hemochromatosis type 3. ( 11313241 )
2001

Variations for Hemochromatosis, Type 3

UniProtKB/Swiss-Prot genetic disease variations for Hemochromatosis, Type 3:

75
# Symbol AA change Variation ID SNP ID
1 TFR2 p.Met172Lys VAR_012738 rs80338879
2 TFR2 p.Val22Ile VAR_042515 rs80338876
3 TFR2 p.Gln690Pro VAR_042517 rs80338889

ClinVar genetic disease variations for Hemochromatosis, Type 3:

6 (show all 48)
# Gene Variation Type Significance SNP ID Assembly Location
1 TFR2 NM_003227.3(TFR2): c.750C> G (p.Tyr250Ter) single nucleotide variant Pathogenic rs80338880 GRCh37 Chromosome 7, 100230723: 100230723
2 TFR2 NM_003227.3(TFR2): c.750C> G (p.Tyr250Ter) single nucleotide variant Pathogenic rs80338880 GRCh38 Chromosome 7, 100633100: 100633100
3 TFR2 NM_003227.3(TFR2): c.88_89insC (p.Arg30Profs) insertion Pathogenic rs80338877 GRCh37 Chromosome 7, 100238797: 100238797
4 TFR2 NM_003227.3(TFR2): c.88_89insC (p.Arg30Profs) insertion Pathogenic rs80338877 GRCh38 Chromosome 7, 100641174: 100641174
5 TFR2 NM_003227.3(TFR2): c.515T> A (p.Met172Lys) single nucleotide variant Pathogenic rs80338879 GRCh37 Chromosome 7, 100231138: 100231138
6 TFR2 NM_003227.3(TFR2): c.515T> A (p.Met172Lys) single nucleotide variant Pathogenic rs80338879 GRCh38 Chromosome 7, 100633515: 100633515
7 TFR2 NM_003227.3(TFR2): c.1364G> A (p.Arg455Gln) single nucleotide variant Likely benign rs41303501 GRCh37 Chromosome 7, 100226902: 100226902
8 TFR2 NM_003227.3(TFR2): c.1364G> A (p.Arg455Gln) single nucleotide variant Likely benign rs41303501 GRCh38 Chromosome 7, 100629279: 100629279
9 TFR2 NM_003227.3(TFR2): c.2069A> C (p.Gln690Pro) single nucleotide variant Pathogenic rs80338889 GRCh37 Chromosome 7, 100224453: 100224453
10 TFR2 NM_003227.3(TFR2): c.2069A> C (p.Gln690Pro) single nucleotide variant Pathogenic rs80338889 GRCh38 Chromosome 7, 100626830: 100626830
11 TFR2 NM_003227.3(TFR2): c.1186C> T (p.Arg396Ter) single nucleotide variant Pathogenic rs80338882 GRCh37 Chromosome 7, 100228596: 100228596
12 TFR2 NM_003227.3(TFR2): c.1186C> T (p.Arg396Ter) single nucleotide variant Pathogenic rs80338882 GRCh38 Chromosome 7, 100630973: 100630973
13 TFR2 NM_003227.3(TFR2): c.1231_1233delAAC (p.Asn412del) deletion Pathogenic rs80338883 GRCh37 Chromosome 7, 100228549: 100228551
14 TFR2 NM_003227.3(TFR2): c.1231_1233delAAC (p.Asn412del) deletion Pathogenic rs80338883 GRCh38 Chromosome 7, 100630926: 100630928
15 TFR2 NM_003227.3(TFR2): c.1330G> A (p.Ala444Thr) single nucleotide variant Pathogenic rs80338884 GRCh37 Chromosome 7, 100226936: 100226936
16 TFR2 NM_003227.3(TFR2): c.1330G> A (p.Ala444Thr) single nucleotide variant Pathogenic rs80338884 GRCh38 Chromosome 7, 100629313: 100629313
17 TFR2 NM_003227.3(TFR2): c.1403G> A (p.Arg468His) single nucleotide variant Uncertain significance rs80338885 GRCh37 Chromosome 7, 100225917: 100225917
18 TFR2 NM_003227.3(TFR2): c.1403G> A (p.Arg468His) single nucleotide variant Uncertain significance rs80338885 GRCh38 Chromosome 7, 100628294: 100628294
19 TFR2 NM_003227.3(TFR2): c.1469T> G (p.Leu490Arg) single nucleotide variant Pathogenic rs80338886 GRCh37 Chromosome 7, 100225851: 100225851
20 TFR2 NM_003227.3(TFR2): c.1469T> G (p.Leu490Arg) single nucleotide variant Pathogenic rs80338886 GRCh38 Chromosome 7, 100628228: 100628228
21 TFR2 NM_003227.3(TFR2): c.1665delC (p.Ser556Alafs) deletion Pathogenic rs80338887 GRCh37 Chromosome 7, 100225384: 100225384
22 TFR2 NM_003227.3(TFR2): c.1665delC (p.Ser556Alafs) deletion Pathogenic rs80338887 GRCh38 Chromosome 7, 100627761: 100627761
23 TFR2 NM_003227.3(TFR2): c.1770C> T (p.Asp590=) single nucleotide variant Conflicting interpretations of pathogenicity rs35704760 GRCh37 Chromosome 7, 100225112: 100225112
24 TFR2 NM_003227.3(TFR2): c.1770C> T (p.Asp590=) single nucleotide variant Conflicting interpretations of pathogenicity rs35704760 GRCh38 Chromosome 7, 100627489: 100627489
25 TFR2 NM_003227.3(TFR2): c.1851C> T (p.Ala617=) single nucleotide variant Benign rs2075674 GRCh37 Chromosome 7, 100225031: 100225031
26 TFR2 NM_003227.3(TFR2): c.1851C> T (p.Ala617=) single nucleotide variant Benign rs2075674 GRCh38 Chromosome 7, 100627408: 100627408
27 TFR2 NM_003227.3(TFR2): c.1861_1872delGCCGTGGCCCAG (p.Ala621_Gln624del) deletion Pathogenic rs80338888 GRCh37 Chromosome 7, 100225010: 100225021
28 TFR2 NM_003227.3(TFR2): c.1861_1872delGCCGTGGCCCAG (p.Ala621_Gln624del) deletion Pathogenic rs80338888 GRCh38 Chromosome 7, 100627387: 100627398
29 TFR2 NM_003227.3(TFR2): c.2137-1G> A single nucleotide variant Pathogenic rs80338890 GRCh37 Chromosome 7, 100218750: 100218750
30 TFR2 NM_003227.3(TFR2): c.2137-1G> A single nucleotide variant Pathogenic rs80338890 GRCh38 Chromosome 7, 100621127: 100621127
31 TFR2 NM_003227.3(TFR2): c.2228C> T (p.Ala743Val) single nucleotide variant Benign rs80338875 GRCh37 Chromosome 7, 100218658: 100218658
32 TFR2 NM_003227.3(TFR2): c.2228C> T (p.Ala743Val) single nucleotide variant Benign rs80338875 GRCh38 Chromosome 7, 100621035: 100621035
33 TFR2 NM_003227.3(TFR2): c.224C> T (p.Ala75Val) single nucleotide variant Benign rs41302357 GRCh37 Chromosome 7, 100238661: 100238661
34 TFR2 NM_003227.3(TFR2): c.224C> T (p.Ala75Val) single nucleotide variant Benign rs41302357 GRCh38 Chromosome 7, 100641038: 100641038
35 TFR2 NM_003227.3(TFR2): c.2374G> A (p.Gly792Arg) single nucleotide variant Likely pathogenic rs80338891 GRCh37 Chromosome 7, 100218512: 100218512
36 TFR2 NM_003227.3(TFR2): c.2374G> A (p.Gly792Arg) single nucleotide variant Likely pathogenic rs80338891 GRCh38 Chromosome 7, 100620889: 100620889
37 TFR2 NM_003227.3(TFR2): c.313C> T (p.Arg105Ter) single nucleotide variant Pathogenic rs80338878 GRCh37 Chromosome 7, 100238469: 100238469
38 TFR2 NM_003227.3(TFR2): c.313C> T (p.Arg105Ter) single nucleotide variant Pathogenic rs80338878 GRCh38 Chromosome 7, 100640846: 100640846
39 TFR2 NM_003227.3(TFR2): c.473+49C> A single nucleotide variant Benign rs80338874 GRCh37 Chromosome 7, 100238260: 100238260
40 TFR2 NM_003227.3(TFR2): c.473+49C> A single nucleotide variant Benign rs80338874 GRCh38 Chromosome 7, 100640637: 100640637
41 TFR2 NM_003227.3(TFR2): c.64G> A (p.Val22Ile) single nucleotide variant Pathogenic rs80338876 GRCh37 Chromosome 7, 100238821: 100238821
42 TFR2 NM_003227.3(TFR2): c.64G> A (p.Val22Ile) single nucleotide variant Pathogenic rs80338876 GRCh38 Chromosome 7, 100641198: 100641198
43 TFR2 NM_003227.3(TFR2): c.714C> G (p.Ile238Met) single nucleotide variant Benign/Likely benign rs34242818 GRCh37 Chromosome 7, 100230864: 100230864
44 TFR2 NM_003227.3(TFR2): c.714C> G (p.Ile238Met) single nucleotide variant Benign/Likely benign rs34242818 GRCh38 Chromosome 7, 100633241: 100633241
45 TFR2 NM_003227.3(TFR2): c.949C> T (p.Gln317Ter) single nucleotide variant Pathogenic rs80338881 GRCh37 Chromosome 7, 100229722: 100229722
46 TFR2 NM_003227.3(TFR2): c.949C> T (p.Gln317Ter) single nucleotide variant Pathogenic rs80338881 GRCh38 Chromosome 7, 100632099: 100632099
47 TFR2 NM_003227.3(TFR2): c.97C> A (p.His33Asn) single nucleotide variant Benign rs80338873 GRCh37 Chromosome 7, 100238788: 100238788
48 TFR2 NM_003227.3(TFR2): c.97C> A (p.His33Asn) single nucleotide variant Benign rs80338873 GRCh38 Chromosome 7, 100641165: 100641165

Expression for Hemochromatosis, Type 3

Search GEO for disease gene expression data for Hemochromatosis, Type 3.

Pathways for Hemochromatosis, Type 3

Pathways related to Hemochromatosis, Type 3 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.21 HAMP SLC40A1 TFR2
2 9.64 HAMP HFE HJV

GO Terms for Hemochromatosis, Type 3

Cellular components related to Hemochromatosis, Type 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 HFE-transferrin receptor complex GO:1990712 8.8 HFE HJV TFR2

Biological processes related to Hemochromatosis, Type 3 according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 BMP signaling pathway GO:0030509 9.51 HFE HJV
2 acute-phase response GO:0006953 9.5 HAMP HFE TFR2
3 liver regeneration GO:0097421 9.49 HAMP HFE
4 transferrin transport GO:0033572 9.48 HFE TFR2
5 iron ion transport GO:0006826 9.46 SLC40A1 TFR2
6 positive regulation of peptide hormone secretion GO:0090277 9.43 HFE TFR2
7 response to iron ion GO:0010039 9.43 HAMP HFE TFR2
8 cellular response to iron ion GO:0071281 9.4 HFE TFR2
9 response to iron ion starvation GO:1990641 9.37 HAMP HFE
10 multicellular organismal iron ion homeostasis GO:0060586 9.33 HAMP HFE SLC40A1
11 iron ion homeostasis GO:0055072 9.26 HFE HJV SLC40A1 TFR2
12 cellular iron ion homeostasis GO:0006879 9.02 HAMP HFE HJV SLC40A1 TFR2

Molecular functions related to Hemochromatosis, Type 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 co-receptor binding GO:0039706 8.96 HFE TFR2
2 transferrin receptor binding GO:1990459 8.62 HFE HJV

Sources for Hemochromatosis, Type 3

3 CDC
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