HFE5
MCID: HMC034
MIFTS: 32

Hemochromatosis, Type 5 (HFE5)

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

Aliases & Classifications for Hemochromatosis, Type 5

MalaCards integrated aliases for Hemochromatosis, Type 5:

Name: Hemochromatosis, Type 5 58 41
Hemochromatosis Type 5 12 54 60 76 30 6
Iron Overload, Autosomal Dominant 58 30 74
Fth1-Related Iron Overload 12 54 60
Hfe5 58 12 76
Fth1-Associated Iron Overload 12 60
Autosomal Dominant Iron Overload 76
Hemochromatosis 5 76

Characteristics:

Orphanet epidemiological data:

60
fth1-related iron overload
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide);
hemochromatosis type 5
Inheritance: Autosomal dominant;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
based on report of 1 japanese family (last curated november 2013)


HPO:

33
hemochromatosis, type 5:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111031
OMIM 58 615517
MeSH 45 D006432
ICD10 34 E83.1
ICD10 via Orphanet 35 E83.1
SNOMED-CT via HPO 70 263681008
UMLS 74 C1851316

Summaries for Hemochromatosis, Type 5

NIH Rare Diseases : 54 Hemochromatosis type 5 is a disease in which too much iron builds up in the body. This is also called iron overload. Accumulation of iron in the organs is toxic and can cause organ damage. While many organs can be affected, iron overload is especially likely to affect the liver, heart, and pancreas. Hemochromatosis type 5 has only been reported in one family from Japan. People in this family who had the disease did not have any symptoms. However, an MRI showed increased levels of iron in the liver, heart, and bone marrow. There were also high levels of iron in the blood. Hemochromatosis type 5 is caused by genetic changes (mutations or pathogenic variants) to the FTH1 gene. The disease is inherited in an autosomal dominant manner. Because hemochromatosis type 5 is so rare, the disease may not be suspected until signs are seen on an MRI, liver biopsy, or a blood test. The diagnosis may be confirmed with genetic testing. Treatment for hemochromatosis type 5 may depend on the signs or symptoms in each person. Treatments that can be used to reduce iron levels in people with other types of hemochromatosis include removing blood (phlebotomy) or iron chelation. These treatments can prevent additional organ damage but typically do not reverse existing damage. To learn more about other types of hemochromatosis click on the disease names below:Hemochromatosis type 1 Hemochromatosis type 2 Hemochromatosis type 3 Hemochromatosis type 4 Neonatal hemochromatosis

MalaCards based summary : Hemochromatosis, Type 5, also known as hemochromatosis type 5, is related to hemochromatosis, neonatal and hemochromatosis, type 1. An important gene associated with Hemochromatosis, Type 5 is FTH1 (Ferritin Heavy Chain 1). Affiliated tissues include liver, bone and heart, and related phenotype is increased serum ferritin.

Disease Ontology : 12 A hemochromatosis that has material basis in heterozygous mutation in the FTH1 gene on chromosome 11q12.

UniProtKB/Swiss-Prot : 76 Hemochromatosis 5: A disorder of iron metabolism characterized by iron overload. Excess iron is deposited in a variety of organs leading to their failure, and resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe effects of the disease usually do not appear until after decades of progressive iron loading.

Description from OMIM: 615517

Related Diseases for Hemochromatosis, Type 5

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 Hemochromatosis, Type 5 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hemochromatosis, neonatal 11.2
2 hemochromatosis, type 1 11.2
3 hemochromatosis, type 3 11.2
4 hemochromatosis, type 4 11.2
5 hemochromatosis type 2 11.2
6 hemosiderosis 10.3

Graphical network of the top 20 diseases related to Hemochromatosis, Type 5:



Diseases related to Hemochromatosis, Type 5

Symptoms & Phenotypes for Hemochromatosis, Type 5

Human phenotypes related to Hemochromatosis, Type 5:

33
# Description HPO Frequency HPO Source Accession
1 increased serum ferritin 33 HP:0003281

Symptoms via clinical synopsis from OMIM:

58
Laboratory Abnormalities:
elevated serum ferritin
elevated serum iron
elevated serum transferrin saturation
elevated total iron-binding capacity

Abdomen Spleen:
iron deposition in macrophages

Abdomen Liver:
heavy iron deposition in most hepatocytes
iron deposition in some kupffer cells
maximal deposition of iron in rappaport zones 1 and 2, with relative sparing of zone 3
low signal intensity on t1- and t2-weighted abdominal mri

Hematology:
no abnormalities

Clinical features from OMIM:

615517

Drugs & Therapeutics for Hemochromatosis, Type 5

Search Clinical Trials , NIH Clinical Center for Hemochromatosis, Type 5

Genetic Tests for Hemochromatosis, Type 5

Genetic tests related to Hemochromatosis, Type 5:

# Genetic test Affiliating Genes
1 Iron Overload, Autosomal Dominant 30
2 Hemochromatosis Type 5 30 FTH1

Anatomical Context for Hemochromatosis, Type 5

MalaCards organs/tissues related to Hemochromatosis, Type 5:

42
Liver, Bone, Heart, Testes, Pancreas, Bone Marrow

Publications for Hemochromatosis, Type 5

Articles related to Hemochromatosis, Type 5:

# Title Authors Year
1
Autosomal dominant iron overload due to a novel mutation of ferroportin1 associated with parenchymal iron loading and cirrhosis. ( 15030991 )
2004
2
Novel mutation in ferroportin 1 gene is associated with autosomal dominant iron overload. ( 12873829 )
2003
3
A mutation, in the iron-responsive element of H ferritin mRNA, causing autosomal dominant iron overload. ( 11389486 )
2001

Variations for Hemochromatosis, Type 5

ClinVar genetic disease variations for Hemochromatosis, Type 5:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FTH1 NM_002032.2(FTH1): c.-164A> T single nucleotide variant Pathogenic rs387906549 GRCh37 Chromosome 11, 61735061: 61735061
2 FTH1 NM_002032.2(FTH1): c.-164A> T single nucleotide variant Pathogenic rs387906549 GRCh38 Chromosome 11, 61967589: 61967589

Expression for Hemochromatosis, Type 5

Search GEO for disease gene expression data for Hemochromatosis, Type 5.

Pathways for Hemochromatosis, Type 5

GO Terms for Hemochromatosis, Type 5

Biological processes related to Hemochromatosis, Type 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 immune response GO:0006955 8.96 BMP6 FTH1
2 cellular iron ion homeostasis GO:0006879 8.62 BMP6 FTH1

Sources for Hemochromatosis, Type 5

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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