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 25
Type 3 Hereditary Hemochromatosis 25

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 p.arg30profster31 pathogenic variant had iron defiency and a history of low dietary iron intake and hypermenorrhea. girelli et al [2002] also found iron deficiency in a young female homozygous for p.ala621_gln624del who had a history of anorexia and helicobacter pylori-related chronic gastritis...

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 skin.

GeneReviews: NBK1349

Related Diseases for Tfr2-Related Hereditary Hemochromatosis

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

# Related Disease Score Top Affiliating Genes
1 hemochromatosis, type 3 11.5
2 hemochromatosis, type 1 10.4
3 juvenile hereditary hemochromatosis 10.4
4 hemosiderosis 10.3
5 alagille syndrome 1 10.0
6 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:

42
Skin

Publications for Tfr2-Related Hereditary Hemochromatosis

Articles related to Tfr2-Related Hereditary Hemochromatosis:

# Title Authors Year
1
A Rare Case Of a 2-year-old Boy With Alagille Syndrome and Type 3 Hereditary Hemochromatosis With TFR2 Mutation. ( 29985876 )
2019
2
TFR2-related hereditary hemochromatosis as a frequent cause of primary iron overload in patients from Central-Southern Italy. ( 24055163 )
2014
3
Type 3 hereditary hemochromatosis in a patient from sub-Saharan Africa: is there a link between African iron overload and TFR2 dysfunction? ( 22981443 )
2013
4
Natural history of TFR2-related hereditary hemochromatosis in a 47-yr-old Italian patient. ( 19549277 )
2009
5
Defective trafficking and localization of mutated transferrin receptor 2: implications for type 3 hereditary hemochromatosis. ( 18094142 )
2008
6
Homozygous p.M172K mutation of the TFR2 gene in an Italian family with type 3 hereditary hemochromatosis and early onset iron overload. ( 16923517 )
2006

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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