MCID: TFR001
MIFTS: 14

Tfr2-Related Hereditary Hemochromatosis

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

Aliases & Classifications for Tfr2-Related Hereditary Hemochromatosis

MalaCards integrated aliases for Tfr2-Related Hereditary Hemochromatosis:

Name: Tfr2-Related Hereditary Hemochromatosis 24
Type 3 Hereditary Hemochromatosis 24

Characteristics:

GeneReviews:

24
Penetrance The penetrance of tfr2-hhc is less than 100% and can be influenced by environmental factors. in a family reported by roetto et al [2001], one middle-aged female homozygous for the tfr2...

Classifications:



Summaries for Tfr2-Related Hereditary Hemochromatosis

MalaCards based summary : Tfr2-Related Hereditary Hemochromatosis, also known as type 3 hereditary hemochromatosis, is related to hemochromatosis, type 3 and hemochromatosis, type 1. An important gene associated with Tfr2-Related Hereditary Hemochromatosis is TFR2 (Transferrin Receptor 2). Affiliated tissues include brain and liver.

GeneReviews: NBK1349

Related Diseases for Tfr2-Related 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 Tfr2-Related Hereditary Hemochromatosis via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hemochromatosis, type 3 11.9
2 hemochromatosis, type 1 10.5
3 hemosiderosis 10.4
4 rare hereditary hemochromatosis 10.4
5 hypogonadism 10.3
6 arthropathy 10.3
7 hypogonadotropism 10.3
8 47,xyy 10.3
9 alagille syndrome 1 10.0
10 iron overload in africa 10.0

Graphical network of the top 20 diseases related to Tfr2-Related Hereditary Hemochromatosis:



Diseases related to Tfr2-Related Hereditary Hemochromatosis

Symptoms & Phenotypes for Tfr2-Related Hereditary Hemochromatosis

Drugs & Therapeutics for Tfr2-Related Hereditary Hemochromatosis

Search Clinical Trials , NIH Clinical Center for Tfr2-Related Hereditary Hemochromatosis

Genetic Tests for Tfr2-Related Hereditary Hemochromatosis

Anatomical Context for Tfr2-Related Hereditary Hemochromatosis

MalaCards organs/tissues related to Tfr2-Related Hereditary Hemochromatosis:

40
Brain, Liver

Publications for Tfr2-Related Hereditary Hemochromatosis

Articles related to Tfr2-Related Hereditary Hemochromatosis:

(show top 50) (show all 55)
# Title Authors PMID Year
1
TFR2-related hereditary hemochromatosis as a frequent cause of primary iron overload in patients from Central-Southern Italy. 61 24
24055163 2014
2
Natural history of TFR2-related hereditary hemochromatosis in a 47-yr-old Italian patient. 24 61
19549277 2009
3
Homozygous p.M172K mutation of the TFR2 gene in an Italian family with type 3 hereditary hemochromatosis and early onset iron overload. 24 61
16923517 2006
4
Ferroportin disease: pathogenesis, diagnosis and treatment. 24
29101207 2017
5
Identification of new BMP6 pro-peptide mutations in patients with iron overload. 24
28335084 2017
6
Identification of novel mutations in HFE, HFE2, TfR2, and SLC40A1 genes in Chinese patients affected by hereditary hemochromatosis. 24
27896572 2017
7
TFR2-related haemochromatosis in the Netherlands: a cause of arthralgia in young adulthood. 24
28276324 2017
8
Clinical evaluation of a hemochromatosis next-generation sequencing gene panel. 24
27753142 2017
9
Successful Treatment of Iron-Overload Cardiomyopathy in Hereditary Hemochromatosis With Deferoxamine and Deferiprone. 24
27789107 2016
10
Next-generation sequencing of hereditary hemochromatosis-related genes: Novel likely pathogenic variants found in the Portuguese population. 24
27667161 2016
11
Transferrin Receptor 2 Dependent Alterations of Brain Iron Metabolism Affect Anxiety Circuits in the Mouse. 24
27477597 2016
12
Haemochromatosis. 24
26975792 2016
13
Identification of novel mutations in hemochromatosis genes by targeted next generation sequencing in Italian patients with unexplained iron overload. 24
26799139 2016
14
The global prevalence of HFE and non-HFE hemochromatosis estimated from analysis of next-generation sequencing data. 24
26633544 2016
15
The role of genetic factors in patients with hepatocellular carcinoma and iron overload - a prospective series of 234 patients. 24
26474245 2016
16
Pathogenesis, Diagnosis and Treatment of Hemochromatosis. 24
27170390 2016
17
Transferrin receptor 2 mutations in patients with juvenile hemochromatosis phenotype. 24
26408288 2015
18
Next-generation sequencing: Application of a novel platform to analyze atypical iron disorders. 24
26151776 2015
19
A comparative study of myocardial molecular phenotypes of two tfr2β null mice: role in ischemia/reperfusion. 24
26458496 2015
20
Functional consequences of transferrin receptor-2 mutations causing hereditary hemochromatosis type 3. 24
26029709 2015
21
Variable age of onset and clinical severity in transferrin receptor 2 related haemochromatosis: novel observations. 24
23600741 2013
22
The hemochromatosis proteins HFE, TfR2, and HJV form a membrane-associated protein complex for hepcidin regulation. 24
22728873 2012
23
Mutations in the HFE, TFR2, and SLC40A1 genes in patients with hemochromatosis. 24
22890139 2012
24
Clinicopathological study of Japanese patients with genetic iron overload syndromes. 24
22924847 2012
25
Knockout mouse models of iron homeostasis. 24
21548776 2011
26
Diagnosis and management of hemochromatosis: 2011 practice guideline by the American Association for the Study of Liver Diseases. 24
21452290 2011
27
[Hyperferritinemia, ferropenia and metabolic syndrome in a patient with a new mutation of gene TFR2 and another in gene FTL. A family study]. 24
21524769 2011
28
A time course of hepcidin response to iron challenge in patients with HFE and TFR2 hemochromatosis. 24
21173098 2011
29
Transferrin receptor 2 is a component of the erythropoietin receptor complex and is required for efficient erythropoiesis. 24
20826723 2010
30
A phase 1/2, dose-escalation trial of deferasirox for the treatment of iron overload in HFE-related hereditary hemochromatosis. 24
20814896 2010
31
EASL clinical practice guidelines for HFE hemochromatosis. 24
20471131 2010
32
Two to tango: regulation of Mammalian iron metabolism. 24
20603012 2010
33
Comparison of 3 Tfr2-deficient murine models suggests distinct functions for Tfr2-alpha and Tfr2-beta isoforms in different tissues. 24
20179178 2010
34
Expression of hepcidin and other iron-related genes in type 3 hemochromatosis due to a novel mutation in transferrin receptor-2. 24
19144662 2009
35
Rare types of genetic hemochromatosis. 24
19907151 2009
36
Early-onset haemochromatosis caused by a novel combination of TFR2 mutations(p.R396X/c.1538-2 A>G) in a woman of Italian descent. 24
18450729 2008
37
New TFR2 mutations in young Italian patients with hemochromatosis. 24
18245657 2008
38
A novel mutation of transferrin receptor 2 in a Taiwanese woman with type 3 hemochromatosis. 24
17562347 2007
39
Genetic background of primary iron overload syndromes in Japan. 24
17106152 2006
40
Juvenile hemochromatosis associated with pathogenic mutations of adult hemochromatosis genes. 24
15685557 2005
41
Hepcidin is decreased in TFR2 hemochromatosis. 24
15486069 2005
42
Type 3 hemochromatosis and beta-thalassemia trait. 24
15059075 2004
43
Homozygosity for transferrin receptor-2 Y250X mutation induces early iron overload. 24
15020277 2004
44
Natural history of juvenile haemochromatosis. 24
12060140 2002
45
Clinical and pathologic findings in hemochromatosis type 3 due to a novel mutation in transferrin receptor 2 gene. 24
11984516 2002
46
New mutations inactivating transferrin receptor 2 in hemochromatosis type 3. 24
11313241 2001
47
Molecular cloning of transferrin receptor 2. A new member of the transferrin receptor-like family. 24
10409623 1999
48
Large-scale sequencing of two regions in human chromosome 7q22: analysis of 650 kb of genomic sequence around the EPO and CUTL1 loci reveals 17 genes. 24
9799793 1998
49
A Rare Case Of a 2-year-old Boy With Alagille Syndrome and Type 3 Hereditary Hemochromatosis With TFR2 Mutation. 61
29985876 2019
50
The Functional Versatility of Transferrin Receptor 2 and Its Therapeutic Value. 61
30360575 2018

Variations for Tfr2-Related Hereditary Hemochromatosis

Expression for Tfr2-Related Hereditary Hemochromatosis

Search GEO for disease gene expression data for Tfr2-Related Hereditary Hemochromatosis.

Pathways for Tfr2-Related Hereditary Hemochromatosis

GO Terms for Tfr2-Related Hereditary Hemochromatosis

Sources for Tfr2-Related Hereditary Hemochromatosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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