MCID: TFR001
MIFTS: 15

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 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 and liver.

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 11.4
2 hemochromatosis, type 1 10.5
3 hemosiderosis 10.2
4 alagille syndrome 1 10.0
5 iron overload in africa 10.0
6 juvenile hereditary hemochromatosis 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:

41
Skin, Liver

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 & Type 3 Hereditary Hemochromatosis With TFR2 Mutation. ( 29985876 )
2018
2
TFR2-related hereditary hemochromatosis as a frequent cause of primary iron overload in patients from Central-Southern Italy. ( 24055163 )
2014
3
Natural history of TFR2-related hereditary hemochromatosis in a 47-yr-old Italian patient. ( 19549277 )
2009
4
TFR2-Related Hereditary Hemochromatosis ( 20301523 )
1993

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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