MCID: TFR001
MIFTS: 21

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 25
Type 3 Hereditary Hemochromatosis 25
Hereditary Hemochromatosis Type 3 6

Characteristics:

GeneReviews:

25
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 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 Tfr2-Related Hereditary Hemochromatosis

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

(show all 11)
# Related Disease Score Top Affiliating Genes
1 hemochromatosis, type 3 31.5 TFR2 LOC113687175
2 hemochromatosis, type 1 29.8 TFR2 LOC113687175
3 hemosiderosis 10.3
4 rare hereditary hemochromatosis 10.3
5 hypogonadism 10.2
6 arthropathy 10.2
7 47,xyy 10.2
8 alagille syndrome 1 10.0
9 iron overload in africa 10.0
10 autosomal recessive disease 10.0
11 thalassemia 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
Liver

Publications for Tfr2-Related Hereditary Hemochromatosis

Articles related to Tfr2-Related Hereditary Hemochromatosis:

(show top 50) (show all 58)
# Title Authors PMID Year
1
New mutations inactivating transferrin receptor 2 in hemochromatosis type 3. 6 25
11313241 2001
2
TFR2-related hereditary hemochromatosis as a frequent cause of primary iron overload in patients from Central-Southern Italy. 61 25
24055163 2014
3
Natural history of TFR2-related hereditary hemochromatosis in a 47-yr-old Italian patient. 25 61
19549277 2009
4
Homozygous p.M172K mutation of the TFR2 gene in an Italian family with type 3 hereditary hemochromatosis and early onset iron overload. 25 61
16923517 2006
5
Transferrin receptor 2 (TfR2) and HFE mutational analysis in non-C282Y iron overload: identification of a novel TfR2 mutation. 6
12130528 2002
6
The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22. 6
10802645 2000
7
Ferroportin disease: pathogenesis, diagnosis and treatment. 25
29101207 2017
8
Identification of new BMP6 pro-peptide mutations in patients with iron overload. 25
28335084 2017
9
Identification of novel mutations in HFE, HFE2, TfR2, and SLC40A1 genes in Chinese patients affected by hereditary hemochromatosis. 25
27896572 2017
10
TFR2-related haemochromatosis in the Netherlands: a cause of arthralgia in young adulthood. 25
28276324 2017
11
Clinical evaluation of a hemochromatosis next-generation sequencing gene panel. 25
27753142 2017
12
Successful Treatment of Iron-Overload Cardiomyopathy in Hereditary Hemochromatosis With Deferoxamine and Deferiprone. 25
27789107 2016
13
Next-generation sequencing of hereditary hemochromatosis-related genes: Novel likely pathogenic variants found in the Portuguese population. 25
27667161 2016
14
Transferrin Receptor 2 Dependent Alterations of Brain Iron Metabolism Affect Anxiety Circuits in the Mouse. 25
27477597 2016
15
Haemochromatosis. 25
26975792 2016
16
The global prevalence of HFE and non-HFE hemochromatosis estimated from analysis of next-generation sequencing data. 25
26633544 2016
17
Identification of novel mutations in hemochromatosis genes by targeted next generation sequencing in Italian patients with unexplained iron overload. 25
26799139 2016
18
The role of genetic factors in patients with hepatocellular carcinoma and iron overload - a prospective series of 234 patients. 25
26474245 2016
19
Pathogenesis, Diagnosis and Treatment of Hemochromatosis. 25
27170390 2016
20
Transferrin receptor 2 mutations in patients with juvenile hemochromatosis phenotype. 25
26408288 2015
21
Next-generation sequencing: Application of a novel platform to analyze atypical iron disorders. 25
26151776 2015
22
A comparative study of myocardial molecular phenotypes of two tfr2β null mice: role in ischemia/reperfusion. 25
26458496 2015
23
Functional consequences of transferrin receptor-2 mutations causing hereditary hemochromatosis type 3. 25
26029709 2015
24
Variable age of onset and clinical severity in transferrin receptor 2 related haemochromatosis: novel observations. 25
23600741 2013
25
The hemochromatosis proteins HFE, TfR2, and HJV form a membrane-associated protein complex for hepcidin regulation. 25
22728873 2012
26
Mutations in the HFE, TFR2, and SLC40A1 genes in patients with hemochromatosis. 25
22890139 2012
27
Clinicopathological study of Japanese patients with genetic iron overload syndromes. 25
22924847 2012
28
Knockout mouse models of iron homeostasis. 25
21548776 2011
29
Diagnosis and management of hemochromatosis: 2011 practice guideline by the American Association for the Study of Liver Diseases. 25
21452290 2011
30
[Hyperferritinemia, ferropenia and metabolic syndrome in a patient with a new mutation of gene TFR2 and another in gene FTL. A family study]. 25
21524769 2011
31
A time course of hepcidin response to iron challenge in patients with HFE and TFR2 hemochromatosis. 25
21173098 2011
32
Transferrin receptor 2 is a component of the erythropoietin receptor complex and is required for efficient erythropoiesis. 25
20826723 2010
33
A phase 1/2, dose-escalation trial of deferasirox for the treatment of iron overload in HFE-related hereditary hemochromatosis. 25
20814896 2010
34
EASL clinical practice guidelines for HFE hemochromatosis. 25
20471131 2010
35
Two to tango: regulation of Mammalian iron metabolism. 25
20603012 2010
36
Comparison of 3 Tfr2-deficient murine models suggests distinct functions for Tfr2-alpha and Tfr2-beta isoforms in different tissues. 25
20179178 2010
37
Expression of hepcidin and other iron-related genes in type 3 hemochromatosis due to a novel mutation in transferrin receptor-2. 25
19144662 2009
38
Rare types of genetic hemochromatosis. 25
19907151 2009
39
Early-onset haemochromatosis caused by a novel combination of TFR2 mutations(p.R396X/c.1538-2 A>G) in a woman of Italian descent. 25
18450729 2008
40
New TFR2 mutations in young Italian patients with hemochromatosis. 25
18245657 2008
41
A novel mutation of transferrin receptor 2 in a Taiwanese woman with type 3 hemochromatosis. 25
17562347 2007
42
Genetic background of primary iron overload syndromes in Japan. 25
17106152 2006
43
Hepcidin is decreased in TFR2 hemochromatosis. 25
15486069 2005
44
Juvenile hemochromatosis associated with pathogenic mutations of adult hemochromatosis genes. 25
15685557 2005
45
Type 3 hemochromatosis and beta-thalassemia trait. 25
15059075 2004
46
Homozygosity for transferrin receptor-2 Y250X mutation induces early iron overload. 25
15020277 2004
47
Natural history of juvenile haemochromatosis. 25
12060140 2002
48
Clinical and pathologic findings in hemochromatosis type 3 due to a novel mutation in transferrin receptor 2 gene. 25
11984516 2002
49
Molecular cloning of transferrin receptor 2. A new member of the transferrin receptor-like family. 25
10409623 1999
50
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. 25
9799793 1998

Variations for Tfr2-Related Hereditary Hemochromatosis

ClinVar genetic disease variations for Tfr2-Related Hereditary Hemochromatosis:

6 (show top 50) (show all 127)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TFR2 NM_003227.4(TFR2):c.750C>G (p.Tyr250Ter) SNV Pathogenic 5380 rs80338880 GRCh37: 7:100230723-100230723
GRCh38: 7:100633100-100633100
2 TFR2 NM_003227.4(TFR2):c.88dup (p.Arg30fs) Duplication Pathogenic 5381 rs80338877 GRCh37: 7:100238796-100238797
GRCh38: 7:100641173-100641174
3 TFR2 NM_003227.4(TFR2):c.515T>A (p.Met172Lys) SNV Pathogenic 5382 rs80338879 GRCh37: 7:100231138-100231138
GRCh38: 7:100633515-100633515
4 LOC113687175 , TFR2 NM_003227.4(TFR2):c.2069A>C (p.Gln690Pro) SNV Pathogenic 5384 rs80338889 GRCh37: 7:100224453-100224453
GRCh38: 7:100626830-100626830
5 TFR2 NM_003227.4(TFR2):c.1186C>T (p.Arg396Ter) SNV Pathogenic 21362 rs80338882 GRCh37: 7:100228596-100228596
GRCh38: 7:100630973-100630973
6 TFR2 NM_003227.4(TFR2):c.1232_1234ACA[1] (p.Asn412del) Microsatellite Pathogenic 21363 rs80338883 GRCh37: 7:100228545-100228547
GRCh38: 7:100630922-100630924
7 TFR2 NM_003227.4(TFR2):c.1330G>A (p.Ala444Thr) SNV Pathogenic 21364 rs80338884 GRCh37: 7:100226936-100226936
GRCh38: 7:100629313-100629313
8 TFR2 NM_003227.4(TFR2):c.1403G>A (p.Arg468His) SNV Pathogenic 21365 rs80338885 GRCh37: 7:100225917-100225917
GRCh38: 7:100628294-100628294
9 TFR2 NM_003227.4(TFR2):c.1469T>G (p.Leu490Arg) SNV Pathogenic 21366 rs80338886 GRCh37: 7:100225851-100225851
GRCh38: 7:100628228-100628228
10 TFR2 NM_003227.4(TFR2):c.1665del (p.Ser556fs) Deletion Pathogenic 21367 rs80338887 GRCh37: 7:100225384-100225384
GRCh38: 7:100627761-100627761
11 TFR2 NM_003227.4(TFR2):c.2137-1G>A SNV Pathogenic 21371 rs80338890 GRCh37: 7:100218750-100218750
GRCh38: 7:100621127-100621127
12 TFR2 NM_003227.4(TFR2):c.2374G>A (p.Gly792Arg) SNV Pathogenic 21374 rs80338891 GRCh37: 7:100218512-100218512
GRCh38: 7:100620889-100620889
13 TFR2 NM_003227.4(TFR2):c.313C>T (p.Arg105Ter) SNV Pathogenic 21375 rs80338878 GRCh37: 7:100238469-100238469
GRCh38: 7:100640846-100640846
14 TFR2 NM_003227.4(TFR2):c.949C>T (p.Gln317Ter) SNV Pathogenic 21379 rs80338881 GRCh37: 7:100229722-100229722
GRCh38: 7:100632099-100632099
15 TFR2 NM_003227.4(TFR2):c.671T>G (p.Leu224Arg) SNV Pathogenic 917399 GRCh37: 7:100230907-100230907
GRCh38: 7:100633284-100633284
16 TFR2 NG_007989.1:g.18579del Deletion Pathogenic 917400 GRCh37: 7:100225595-100225595
GRCh38: 7:100627972-100627972
17 TFR2 NM_003227.4(TFR2):c.1398del (p.Arg468fs) Deletion Pathogenic 461197 rs773050231 GRCh37: 7:100225922-100225922
GRCh38: 7:100628299-100628299
18 TFR2 NM_003227.4(TFR2):c.286+2T>C SNV Pathogenic 1028095 GRCh37: 7:100238597-100238597
GRCh38: 7:100640974-100640974
19 TFR2 NM_003227.4(TFR2):c.1849_1860GCCGTGGCCCAG[1] (p.617_620AVAQ[1]) Microsatellite Pathogenic 21370 rs80338888 GRCh37: 7:100225010-100225021
GRCh38: 7:100627387-100627398
20 LOC113687175 , TFR2 NM_003227.4(TFR2):c.2014C>T (p.Gln672Ter) SNV Conflicting interpretations of pathogenicity 632495 rs1051249273 GRCh37: 7:100224508-100224508
GRCh38: 7:100626885-100626885
21 TFR2 NM_003227.4(TFR2):c.726+9C>T SNV Uncertain significance 358295 rs372020405 GRCh37: 7:100230843-100230843
GRCh38: 7:100633220-100633220
22 TFR2 NM_003227.4(TFR2):c.2367G>A (p.Ala789=) SNV Uncertain significance 358283 rs374766778 GRCh37: 7:100218519-100218519
GRCh38: 7:100620896-100620896
23 TFR2 NM_003227.4(TFR2):c.1682+9G>T SNV Uncertain significance 358287 rs41295906 GRCh37: 7:100225358-100225358
GRCh38: 7:100627735-100627735
24 TFR2 NM_003227.4(TFR2):c.*435T>C SNV Uncertain significance 908971 GRCh37: 7:100218045-100218045
GRCh38: 7:100620422-100620422
25 TFR2 NM_003227.4(TFR2):c.*280A>C SNV Uncertain significance 908972 GRCh37: 7:100218200-100218200
GRCh38: 7:100620577-100620577
26 TFR2 NM_003227.4(TFR2):c.1875C>T (p.Leu625=) SNV Uncertain significance 761805 rs778534889 GRCh37: 7:100225007-100225007
GRCh38: 7:100627384-100627384
27 TFR2 NM_003227.4(TFR2):c.1863C>T (p.Ala621=) SNV Uncertain significance 909029 GRCh37: 7:100225019-100225019
GRCh38: 7:100627396-100627396
28 TFR2 NM_003227.4(TFR2):c.1747G>A (p.Val583Ile) SNV Uncertain significance 909030 GRCh37: 7:100225220-100225220
GRCh38: 7:100627597-100627597
29 TFR2 NM_003227.4(TFR2):c.1683-4C>T SNV Uncertain significance 909031 GRCh37: 7:100225288-100225288
GRCh38: 7:100627665-100627665
30 TFR2 NM_003227.4(TFR2):c.822C>T (p.Arg274=) SNV Uncertain significance 909091 GRCh37: 7:100230651-100230651
GRCh38: 7:100633028-100633028
31 TFR2 NM_003227.4(TFR2):c.759C>A (p.Pro253=) SNV Uncertain significance 909092 GRCh37: 7:100230714-100230714
GRCh38: 7:100633091-100633091
32 TFR2 NM_003227.4(TFR2):c.*142G>A SNV Uncertain significance 909842 GRCh37: 7:100218338-100218338
GRCh38: 7:100620715-100620715
33 TFR2 NM_003227.4(TFR2):c.*141C>T SNV Uncertain significance 909843 GRCh37: 7:100218339-100218339
GRCh38: 7:100620716-100620716
34 TFR2 NM_003227.4(TFR2):c.*55G>A SNV Uncertain significance 909844 GRCh37: 7:100218425-100218425
GRCh38: 7:100620802-100620802
35 TFR2 NM_003227.4(TFR2):c.*1G>A SNV Uncertain significance 909845 GRCh37: 7:100218479-100218479
GRCh38: 7:100620856-100620856
36 TFR2 NM_003227.4(TFR2):c.1682+11G>C SNV Uncertain significance 909890 GRCh37: 7:100225356-100225356
GRCh38: 7:100627733-100627733
37 TFR2 NM_003227.4(TFR2):c.1682+4A>C SNV Uncertain significance 909891 GRCh37: 7:100225363-100225363
GRCh38: 7:100627740-100627740
38 TFR2 NM_003227.4(TFR2):c.1620C>T (p.Asn540=) SNV Uncertain significance 695828 rs199600701 GRCh37: 7:100225429-100225429
GRCh38: 7:100627806-100627806
39 TFR2 NM_003227.4(TFR2):c.1486G>A (p.Val496Met) SNV Uncertain significance 909892 GRCh37: 7:100225747-100225747
GRCh38: 7:100628124-100628124
40 TFR2 NM_003227.4(TFR2):c.1473+13C>G SNV Uncertain significance 909893 GRCh37: 7:100225834-100225834
GRCh38: 7:100628211-100628211
41 TFR2 NM_003227.4(TFR2):c.615-12C>T SNV Uncertain significance 909944 GRCh37: 7:100230975-100230975
GRCh38: 7:100633352-100633352
42 TFR2 NM_003227.4(TFR2):c.474-7C>T SNV Uncertain significance 909945 GRCh37: 7:100231186-100231186
GRCh38: 7:100633563-100633563
43 TFR2 NM_003227.4(TFR2):c.473+8T>A SNV Uncertain significance 695306 rs148902192 GRCh37: 7:100238301-100238301
GRCh38: 7:100640678-100640678
44 TFR2 NM_003227.4(TFR2):c.427A>C (p.Met143Leu) SNV Uncertain significance 909946 GRCh37: 7:100238355-100238355
GRCh38: 7:100640732-100640732
45 TFR2 NM_003227.4(TFR2):c.381C>A (p.Asp127Glu) SNV Uncertain significance 872277 GRCh37: 7:100238401-100238401
GRCh38: 7:100640778-100640778
46 TFR2 NM_003227.4(TFR2):c.2336T>C (p.Leu779Pro) SNV Uncertain significance 910741 GRCh37: 7:100218550-100218550
GRCh38: 7:100620927-100620927
47 TFR2 NM_003227.4(TFR2):c.2248C>G (p.Leu750Val) SNV Uncertain significance 910742 GRCh37: 7:100218638-100218638
GRCh38: 7:100621015-100621015
48 LOC113687175 , TFR2 NM_003227.4(TFR2):c.2135G>A (p.Arg712Gln) SNV Uncertain significance 910743 GRCh37: 7:100224387-100224387
GRCh38: 7:100626764-100626764
49 TFR2 NM_003227.4(TFR2):c.1329C>T (p.Ser443=) SNV Uncertain significance 910793 GRCh37: 7:100226937-100226937
GRCh38: 7:100629314-100629314
50 TFR2 NM_003227.4(TFR2):c.1279G>A (p.Val427Ile) SNV Uncertain significance 910794 GRCh37: 7:100226987-100226987
GRCh38: 7:100629364-100629364

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
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
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28 GO
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31 HPO
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45 MESH via Orphanet
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56 OMIM via Orphanet
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