MCID: HFS001
MIFTS: 21

Hfe-Associated Hereditary Hemochromatosis

Aliases & Classifications for Hfe-Associated Hereditary Hemochromatosis

MalaCards integrated aliases for Hfe-Associated Hereditary Hemochromatosis:

Name: Hfe-Associated Hereditary Hemochromatosis 24

Characteristics:

GeneReviews:

24
Penetrance Penetrance in hfe-hh refers to the percentage of adults (males and females separately) homozygous or compound heterozygous for hfe pathogenic variants who exhibit either clinical hfe-hh or biochemical hfe-hh:...

Summaries for Hfe-Associated Hereditary Hemochromatosis

MalaCards based summary : Hfe-Associated Hereditary Hemochromatosis is related to hemochromatosis, type 1 and iron metabolism disease. An important gene associated with Hfe-Associated Hereditary Hemochromatosis is HFE (Homeostatic Iron Regulator), and among its related pathways/superpathways are Iron metabolism in placenta and Hfe effect on hepcidin production. The drugs Iron and Micronutrients have been mentioned in the context of this disorder. Related phenotypes are hematopoietic system and immune system

GeneReviews: NBK1440

Related Diseases for Hfe-Associated Hereditary Hemochromatosis

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

(show all 16)
# Related Disease Score Top Affiliating Genes
1 hemochromatosis, type 1 30.0 HFE HJV SLC11A2 TFR2
2 iron metabolism disease 27.4 HFE HJV SLC11A2 TFR2
3 hepatitis 10.1
4 aging 10.0
5 duodenitis 10.0
6 hemosiderosis 9.6 HFE SLC11A2
7 atrial standstill 1 9.6 HFE HJV
8 hemochromatosis, type 3 9.4 HFE TFR2
9 beta-thalassemia 9.0 HFE TFR2
10 hemochromatosis type 2 9.0 HFE HJV TFR2
11 inherited metabolic disorder 8.9 HFE HJV TFR2
12 aceruloplasminemia 8.9 HFE HJV TFR2
13 metal metabolism disorder 8.3 HFE HJV SLC11A2 TFR2
14 atransferrinemia 8.3 HFE HJV SLC11A2 TFR2
15 iron deficiency anemia 8.3 HFE HJV SLC11A2 TFR2
16 deficiency anemia 8.2 HFE HJV SLC11A2 TFR2

Graphical network of the top 20 diseases related to Hfe-Associated Hereditary Hemochromatosis:



Diseases related to Hfe-Associated Hereditary Hemochromatosis

Symptoms & Phenotypes for Hfe-Associated Hereditary Hemochromatosis

MGI Mouse Phenotypes related to Hfe-Associated Hereditary Hemochromatosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.46 TFR2 HFE HJV SLC11A2
2 immune system MP:0005387 9.26 HFE HJV SLC11A2 TFR2
3 liver/biliary system MP:0005370 8.92 HFE HJV SLC11A2 TFR2

Drugs & Therapeutics for Hfe-Associated Hereditary Hemochromatosis

Drugs for Hfe-Associated Hereditary Hemochromatosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iron Approved Not Applicable 7439-89-6 23925
2 Micronutrients Not Applicable
3 Trace Elements Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Estimation of Myocardial Iron Overload by 3 Tesla MRI in HFE Hereditary Haemochromatosis Completed NCT02099214 Not Applicable

Search NIH Clinical Center for Hfe-Associated Hereditary Hemochromatosis

Genetic Tests for Hfe-Associated Hereditary Hemochromatosis

Anatomical Context for Hfe-Associated Hereditary Hemochromatosis

Publications for Hfe-Associated Hereditary Hemochromatosis

Articles related to Hfe-Associated Hereditary Hemochromatosis:

# Title Authors Year
1
Effects of strain and age on hepatic gene expression profiles in murine models of HFE-associated hereditary hemochromatosis. ( 25427953 )
2015
2
HFE-associated hereditary hemochromatosis: overview of genetics and clinical implications for nurse practitioners in primary care settings. ( 24574363 )
2014
3
Validation of an unlabeled probe melting analysis assay combined with high-throughput extractions for genotyping of the most common variants in HFE-associated hereditary hemochromatosis, C282Y, H63D, and S65C. ( 22364140 )
2012
4
HFE-associated hereditary hemochromatosis. ( 19444013 )
2009
5
Hepatic iron metabolism gene expression profiles in HFE associated hereditary hemochromatosis. ( 17098454 )
2007
6
Increased duodenal DMT-1 expression and unchanged HFE mRNA levels in HFE-associated hereditary hemochromatosis and iron deficiency. ( 12547214 )
2002
7
Morbidity risk in HFE associated hereditary hemochromatosis C282Y heterozygotes. ( 12324192 )
2002
8
HFE-associated hereditary hemochromatosis. ( 10694284 )
2000
9
HFE-Associated Hereditary Hemochromatosis ( 20301613 )
1993

Variations for Hfe-Associated Hereditary Hemochromatosis

Expression for Hfe-Associated Hereditary Hemochromatosis

Search GEO for disease gene expression data for Hfe-Associated Hereditary Hemochromatosis.

Pathways for Hfe-Associated Hereditary Hemochromatosis

Pathways related to Hfe-Associated Hereditary Hemochromatosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.03 SLC11A2 TFR2
2 9.47 HFE HJV

GO Terms for Hfe-Associated Hereditary Hemochromatosis

Cellular components related to Hfe-Associated Hereditary Hemochromatosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasmic vesicle GO:0031410 9.43 HFE SLC11A2 TFR2
2 external side of plasma membrane GO:0009897 9.4 HFE TFR2
3 early endosome GO:0005769 9.37 HFE SLC11A2
4 recycling endosome GO:0055037 9.32 HFE SLC11A2
5 apical part of cell GO:0045177 9.16 HFE SLC11A2
6 basal part of cell GO:0045178 8.96 HFE SLC11A2
7 HFE-transferrin receptor complex GO:1990712 8.8 HFE HJV TFR2

Biological processes related to Hfe-Associated Hereditary Hemochromatosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 BMP signaling pathway GO:0030509 9.48 HFE HJV
2 acute-phase response GO:0006953 9.46 HFE TFR2
3 transferrin transport GO:0033572 9.43 HFE TFR2
4 iron ion transport GO:0006826 9.4 SLC11A2 TFR2
5 multicellular organismal iron ion homeostasis GO:0060586 9.37 HFE SLC11A2
6 response to iron ion GO:0010039 9.33 HFE SLC11A2 TFR2
7 positive regulation of peptide hormone secretion GO:0090277 9.32 HFE TFR2
8 cellular response to iron ion GO:0071281 9.26 HFE TFR2
9 cellular iron ion homeostasis GO:0006879 9.26 HFE HJV SLC11A2 TFR2
10 iron ion homeostasis GO:0055072 8.92 HFE HJV SLC11A2 TFR2

Molecular functions related to Hfe-Associated Hereditary Hemochromatosis 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 Hfe-Associated 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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