HFE5
MCID: HMC034
MIFTS: 41

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 57 39
Hemochromatosis Type 5 12 20 58 72 29 6 15
Iron Overload, Autosomal Dominant 57 29 70
Fth1-Related Iron Overload 12 20 58
Hfe5 57 12 72
Fth1-Associated Iron Overload 12 58
Autosomal Dominant Iron Overload 72
Hemochromatosis 5 72

Characteristics:

Orphanet epidemiological data:

58
fth1-related iron overload
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide);
hemochromatosis type 5
Inheritance: Autosomal dominant;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

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


HPO:

31
hemochromatosis, type 5:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare hepatic diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0111031
OMIM® 57 615517
OMIM Phenotypic Series 57 PS235200
MeSH 44 D006432
ICD10 32 E83.1
ICD10 via Orphanet 33 E83.1
SNOMED-CT via HPO 68 263681008
UMLS 70 C1851316

Summaries for Hemochromatosis, Type 5

GARD : 20 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, type 4 and hemochromatosis type 2. An important gene associated with Hemochromatosis, Type 5 is FTH1 (Ferritin Heavy Chain 1), and among its related pathways/superpathways are Clathrin derived vesicle budding and Mineral absorption. Affiliated tissues include liver, heart and bone marrow, and related phenotypes are increased circulating ferritin concentration and liver/biliary system

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

UniProtKB/Swiss-Prot : 72 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.

More information from OMIM: 615517 PS235200

Related Diseases for Hemochromatosis, Type 5

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

(show all 35)
# Related Disease Score Top Affiliating Genes
1 hemochromatosis, type 4 31.5 TFR2 HJV HFE
2 hemochromatosis type 2 31.3 TFR2 HJV HFE BMP6
3 hemochromatosis, type 3 31.1 TFR2 HJV HFE FTH1 BMP6
4 rare hereditary hemochromatosis 30.4 TFR2 HJV HFE
5 hemosiderosis 30.3 TFR2 HJV HFE
6 hemochromatosis, type 1 29.5 TFR2 SLC33A1 SLC30A9 HJV HFE FTL
7 hemochromatosis, neonatal 11.1
8 siderosis 10.1 HFE FTH1
9 vitreoretinochoroidopathy 10.1 FTH1 BEST1
10 sarcoidosis 1 10.1
11 liver cirrhosis 10.1
12 macrophage activation syndrome 10.0 FTL FTH1
13 spastic paraplegia 38, autosomal dominant 10.0 FTL FTH1
14 neurodegeneration with brain iron accumulation 3 10.0 FTL FTH1
15 iron overload in africa 9.9 TFR2 HJV HFE
16 cardiomyopathy, familial hypertrophic, 9 9.9 FTL FTH1
17 atransferrinemia 9.9 TFR2 HJV HFE
18 porphyria cutanea tarda 9.9 TFR2 HJV HFE
19 hyperpigmentation with or without hypopigmentation, familial progressive 9.9 HJV AP5M1
20 porphyria 9.9 TFR2 HJV HFE
21 hemoglobinopathy 9.9 TFR2 HJV HFE
22 inherited metabolic disorder 9.9 TFR2 HJV HFE
23 microcytic anemia 9.8 TFR2 HJV
24 spinal muscular atrophy, distal, x-linked 3 9.7 SLC33A1 AP1S1
25 neurodegeneration with brain iron accumulation 9.7 TFR2 HFE FTL FTH1
26 iron metabolism disease 9.7 TFR2 HJV HFE FTL
27 iron deficiency anemia 9.6 TFR2 HJV HFE FTL
28 mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma 9.6 SLC33A1 AP5M1 AP1S1
29 hyperferritinemia with or without cataract 9.5 TFR2 HJV HFE FTL FTH1
30 beta-thalassemia 9.5 TFR2 HJV HFE FTL FTH1
31 hypermanganesemia with dystonia 9.5 SLC33A1 SLC30A9 AP1S1
32 hypermanganesemia with dystonia 2 9.5 SLC33A1 SLC30A9 AP1S1
33 metal metabolism disorder 9.3 TFR2 HJV HFE FTL FTH1 BMP6
34 deficiency anemia 9.3 TFR2 HJV HFE FTL FTH1 BMP6
35 aceruloplasminemia 8.9 TFR2 SLC33A1 HJV HFE FTL FTH1

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:

31
# Description HPO Frequency HPO Source Accession
1 increased circulating ferritin concentration 31 HP:0003281

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Hemochromatosis, Type 5:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 liver/biliary system MP:0005370 9.02 FTH1 FTL HFE HJV TFR2

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 29
2 Hemochromatosis Type 5 29 FTH1

Anatomical Context for Hemochromatosis, Type 5

MalaCards organs/tissues related to Hemochromatosis, Type 5:

40
Liver, Heart, Bone Marrow, Pancreas, Brain

Publications for Hemochromatosis, Type 5

Articles related to Hemochromatosis, Type 5:

# Title Authors PMID Year
1
A mutation, in the iron-responsive element of H ferritin mRNA, causing autosomal dominant iron overload. 6 57
11389486 2001
2
The chemistry of hydridocarbonylferrates revisited: syntheses and structures of the new [H2Fe4(CO)12]2- and [HFe5(CO)14]3- anions, and the [Fe(DMF)4][Fe4(CO)12(μ5-η2-CO)(μ-H)]2 adduct containing an unprecedented isocarbonyl. 61
21792429 2011

Variations for Hemochromatosis, Type 5

ClinVar genetic disease variations for Hemochromatosis, Type 5:

6 (show all 19)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FTH1 NM_002032.3(FTH1):c.-164A>T SNV Pathogenic 16490 rs387906549 GRCh37: 11:61735061-61735061
GRCh38: 11:61967589-61967589
2 BEST1 , FTH1 NM_002032.3(FTH1):c.*165T>C SNV Uncertain significance 305140 rs886048430 GRCh37: 11:61732034-61732034
GRCh38: 11:61964562-61964562
3 FTH1 NM_002032.3(FTH1):c.-2C>T SNV Uncertain significance 305146 rs751983239 GRCh37: 11:61734899-61734899
GRCh38: 11:61967427-61967427
4 FTH1 NM_002032.3(FTH1):c.-204A>G SNV Uncertain significance 305147 rs886048433 GRCh37: 11:61735101-61735101
GRCh38: 11:61967629-61967629
5 BEST1 , FTH1 NM_002032.3(FTH1):c.413A>T (p.Tyr138Phe) SNV Uncertain significance 305141 rs886048431 GRCh37: 11:61732338-61732338
GRCh38: 11:61964866-61964866
6 BEST1 , FTH1 NM_002032.3(FTH1):c.208C>T (p.Leu70=) SNV Uncertain significance 305144 rs886048432 GRCh37: 11:61732894-61732894
GRCh38: 11:61965422-61965422
7 FTH1 NM_002032.3(FTH1):c.-14C>T SNV Uncertain significance 879333 GRCh37: 11:61734911-61734911
GRCh38: 11:61967439-61967439
8 FTH1 NM_002032.3(FTH1):c.-136C>A SNV Uncertain significance 879334 GRCh37: 11:61735033-61735033
GRCh38: 11:61967561-61967561
9 BEST1 , FTH1 NM_002032.3(FTH1):c.*159C>T SNV Uncertain significance 878748 GRCh37: 11:61732040-61732040
GRCh38: 11:61964568-61964568
10 BEST1 , FTH1 NM_002032.3(FTH1):c.*312A>G SNV Uncertain significance 305138 rs756884770 GRCh37: 11:61731887-61731887
GRCh38: 11:61964415-61964415
11 BEST1 , FTH1 NM_002032.3(FTH1):c.*396A>G SNV Uncertain significance 305134 rs565138844 GRCh37: 11:61731803-61731803
GRCh38: 11:61964331-61964331
12 BEST1 , FTH1 NM_002032.3(FTH1):c.*336A>G SNV Uncertain significance 880474 GRCh37: 11:61731863-61731863
GRCh38: 11:61964391-61964391
13 FTH1 NM_002032.3(FTH1):c.60C>T (p.Ala20=) SNV Benign 878749 GRCh37: 11:61734838-61734838
GRCh38: 11:61967366-61967366
14 BEST1 , FTH1 NM_002032.3(FTH1):c.*319G>A SNV Benign 305137 rs75281081 GRCh37: 11:61731880-61731880
GRCh38: 11:61964408-61964408
15 BEST1 , FTH1 NM_002032.3(FTH1):c.*389A>G SNV Benign 305135 rs1801327 GRCh37: 11:61731810-61731810
GRCh38: 11:61964338-61964338
16 BEST1 , FTH1 NM_002032.3(FTH1):c.388-5T>C SNV Benign 305142 rs753621558 GRCh37: 11:61732368-61732368
GRCh38: 11:61964896-61964896
17 BEST1 , FTH1 NM_002032.3(FTH1):c.*222C>T SNV Benign 305139 rs17156609 GRCh37: 11:61731977-61731977
GRCh38: 11:61964505-61964505
18 BEST1 , FTH1 NM_002032.3(FTH1):c.387+12A>G SNV Benign 305143 rs201120647 GRCh37: 11:61732447-61732447
GRCh38: 11:61964975-61964975
19 BEST1 , FTH1 NM_002032.3(FTH1):c.161A>G (p.Lys54Arg) SNV Benign 305145 rs186448909 GRCh37: 11:61732941-61732941
GRCh38: 11:61965469-61965469

Expression for Hemochromatosis, Type 5

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

Pathways for Hemochromatosis, Type 5

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.71 FTL FTH1 AP1S1
2 11.09 FTL FTH1
3 10.87 FTL FTH1
4 10.03 TFR2 FTH1
5 9.64 HJV HFE BMP6

GO Terms for Hemochromatosis, Type 5

Cellular components related to Hemochromatosis, Type 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 9.96 TFR2 SLC33A1 SLC30A9 HJV HFE FTL
2 cytoplasmic vesicle GO:0031410 9.62 TFR2 SLC30A9 HFE AP1S1
3 autolysosome GO:0044754 9.16 FTL FTH1
4 intracellular ferritin complex GO:0008043 8.96 FTL FTH1
5 HFE-transferrin receptor complex GO:1990712 8.8 TFR2 HJV HFE

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 BMP signaling pathway GO:0030509 9.56 SLC33A1 HJV HFE BMP6
2 iron ion transport GO:0006826 9.54 TFR2 FTL FTH1
3 SMAD protein signal transduction GO:0060395 9.52 SLC33A1 BMP6
4 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.51 HFE BMP6
5 response to iron ion GO:0010039 9.5 TFR2 HFE BMP6
6 acute-phase response GO:0006953 9.49 TFR2 HFE
7 cellular response to BMP stimulus GO:0071773 9.48 HJV BMP6
8 transferrin transport GO:0033572 9.46 TFR2 HFE
9 positive regulation of peptide hormone secretion GO:0090277 9.43 TFR2 HFE
10 intracellular sequestering of iron ion GO:0006880 9.4 FTL FTH1
11 cellular response to iron ion GO:0071281 9.33 TFR2 HFE BMP6
12 iron ion homeostasis GO:0055072 9.26 TFR2 HJV HFE FTL
13 cellular iron ion homeostasis GO:0006879 9.1 TFR2 HJV HFE FTL FTH1 BMP6

Molecular functions related to Hemochromatosis, Type 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ferrous iron binding GO:0008198 9.26 FTL FTH1
2 co-receptor binding GO:0039706 9.16 TFR2 HFE
3 transferrin receptor binding GO:1990459 8.96 HJV HFE
4 ferric iron binding GO:0008199 8.62 FTL FTH1

Sources for Hemochromatosis, Type 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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