HFE gene related symptoms and diseases

All the information presented here about the HFE gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.

Table of contents:

Main symptoms and clinical features
Other symptoms and clinical features
Related Diseases
Current trends
Suitable testing panels

Top 5 symptoms and clinical features associated to HFE gene

Symptoms // Phenotype	% Cases
Hepatocellular carcinoma	Uncommon - Between 30% and 50% cases
Hyperpigmentation of the skin	Uncommon - Between 30% and 50% cases
Carcinoma	Uncommon - Between 30% and 50% cases
Porphyrinuria	Uncommon - Between 30% and 50% cases
Hypertrichosis	Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with HFE gene alterations may also develop some of the following symptoms and phenotypes:

Not very common - Between 30% and 50% cases
Fragile skin
Hepatic steatosis
Cirrhosis
Hepatitis
Alopecia
Alcoholism
Rarely - Less than 30% cases
Intellectual disability
Cardiomyopathy

And 136 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to HFE gene

Here you will find a list of rare diseases related to the HFE. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

ALZHEIMER DISEASE; AD

Alternate names

ALZHEIMER DISEASE; AD Is also known as presenile and senile dementia

Description

Alzheimer disease is the most common form of progressive dementia in the elderly. It is a neurodegenerative disorder characterized by the neuropathologic findings of intracellular neurofibrillary tangles (NFT) and extracellular amyloid plaques that accumulate in vulnerable brain regions (Sennvik et al., 2000). Terry and Davies (1980) pointed out that the 'presenile' form, with onset before age 65, is identical to the most common form of late-onset or 'senile' dementia, and suggested the term 'senile dementia of the Alzheimer type' (SDAT).Haines (1991) reviewed the genetics of AD. Selkoe (1996) reviewed the pathophysiology, chromosomal loci, and pathogenetic mechanisms of Alzheimer disease. Theuns and Van Broeckhoven (2000) reviewed the transcriptional regulation of the genes involved in Alzheimer disease. Genetic Heterogeneity of Alzheimer DiseaseAlzheimer disease is a genetically heterogeneous disorder. See also AD2 (OMIM ), associated with the APOE*4 allele (OMIM ) on chromosome 19; AD3 (OMIM ), caused by mutation in the presenilin-1 gene (PSEN1 ) on 14q; and AD4 (OMIM ), caused by mutation in the PSEN2 gene (OMIM ) on 1q31.There is evidence for additional AD loci on other chromosomes; see AD5 (OMIM ) on 12p11, AD6 (OMIM ) on 10q24, AD7 (OMIM ) on 10p13, AD8 (OMIM ) on 20p, AD9 (OMIM ), associated with variation in the ABCA7 gene (OMIM ) on 19p13, AD10 (OMIM ) on 7q36, AD11 (OMIM ) on 9q22, AD12 (OMIM ) on 8p12-q22, AD13 (OMIM ) on 1q21, AD14 (OMIM ) on 1q25, AD15 (OMIM ) on 3q22-q24, AD16 (OMIM ) on Xq21.3, AD17 (OMIM ) on 6p21.2, and AD18 (OMIM ), associated with variation in the ADAM10 gene (OMIM ) on 15q21.Evidence also suggests that mitochondrial DNA polymorphisms may be risk factors in Alzheimer disease (OMIM ).Finally, there have been associations between AD and various polymorphisms in other genes, including alpha-2-macroglobulin (A2M; {103950.0005}), low density lipoprotein-related protein-1 (LRP1 ), the transferrin gene (TF ), the hemochromatosis gene (HFE ), the NOS3 gene (OMIM ), the vascular endothelial growth factor gene (VEGF ), the ABCA2 gene (OMIM ), and the TNF gene (OMIM ) (see MOLECULAR GENETICS).

Most common symptoms of ALZHEIMER DISEASE; AD

Intellectual disability
Seizures
Spasticity
Cognitive impairment
Edema

More info about ALZHEIMER DISEASE; AD

SOURCES: OMIM

SYMPTOMATIC FORM OF HEMOCHROMATOSIS TYPE 1

Alternate names

SYMPTOMATIC FORM OF HEMOCHROMATOSIS TYPE 1 Is also known as symptomatic form of hfe-related hereditary hemochromatosis, symptomatic form of classic hemochromatosis

Description

Symptomatic form of hemochromatosis type 1 is a rare, hereditary hemochromatosis characterized by inappropriately regulated intestinal iron absorption which leads to excessive iron storage in various organs and manifests with a wide range of signs and symptoms, including abdominal pain, weakness, lethargy, weight loss, elevated serum aminotransferase levels, increase in skin pigmentation, and/or arthropathy in the metacarpophalangeal joints. Other commonly associated manifestations include hepatomegaly, cirrhosis, liver fibrosis, hepatocellular carcinoma, restrictive cardiomyopathy and/or diabetes mellitus.

Most common symptoms of SYMPTOMATIC FORM OF HEMOCHROMATOSIS TYPE 1

Peripheral neuropathy
Hepatomegaly
Fatigue
Cardiomyopathy
Congestive heart failure

More info about SYMPTOMATIC FORM OF HEMOCHROMATOSIS TYPE 1

SOURCES: ORPHANET

HEMOCHROMATOSIS, TYPE 1; HFE1

Alternate names

HEMOCHROMATOSIS, TYPE 1; HFE1 Is also known as hfe, hemochromatosis, hereditary, hemochromatosis, hh

Description

Hereditary hemochromatosis is an autosomal recessive disorder of iron metabolism wherein the body accumulates excess iron (summary by Feder et al., 1996). 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. Removal of excess iron by therapeutic phlebotomy decreases morbidity and mortality if instituted early in the course of the disease. Classic hemochromatosis (HFE) is most often caused by mutation in a gene designated HFE on chromosome 6p21.3.Adams and Barton (2007) reviewed the clinical features, pathophysiology, and management of hemochromatosis. Genetic Heterogeneity of HemochromatosisAt least 4 additional iron overload disorders labeled hemochromatosis have been identified on the basis of clinical, biochemical, and genetic characteristics. Juvenile hemochromatosis, or hemochromatosis type 2 (HFE2), is autosomal recessive and is divided into 2 forms: HFE2A (OMIM ), caused by mutation in the HJV gene (OMIM ) on chromosome 1q21, and HFE2B (OMIM ), caused by mutation in the HAMP gene (OMIM ) on chromosome 19q13. Hemochromatosis type 3 (HFE3 ), an autosomal recessive disorder, is caused by mutation in the TFR2 gene (OMIM ) on chromosome 7q22. Hemochromatosis type 4 (HFE4 ), an autosomal dominant disorder, is caused by mutation in the SLC40A1 gene (OMIM ) on chromosome 2q32. Hemochromatosis type 5 (HFE5 ) is caused by mutation in the FTH1 gene (OMIM ) on chromosome 11q12.

Most common symptoms of HEMOCHROMATOSIS, TYPE 1; HFE1

Ataxia
Neoplasm
Pain
Anemia
Hepatomegaly

More info about HEMOCHROMATOSIS, TYPE 1; HFE1

SOURCES: ORPHANET OMIM

PORPHYRIA VARIEGATA

Alternate names

PORPHYRIA VARIEGATA Is also known as variegate porphyria, ppox deficiency, porphyria, south african type, protoporphyrinogen oxidase deficiency, vp

Description

Variegate porphyria is a form of acute hepatic porphyria (see this term) characterized by the occurrence of neuro-visceral attacks with or without the presence of cutaneous lesions.

Most common symptoms of PORPHYRIA VARIEGATA

Intellectual disability
Seizures
Short stature
Growth delay
Nystagmus

More info about PORPHYRIA VARIEGATA

SOURCES: OMIM ORPHANET MESH

FAMILIAL PORPHYRIA CUTANEA TARDA

Alternate names

FAMILIAL PORPHYRIA CUTANEA TARDA Is also known as porphyria cutanea tarda type ii

More info about FAMILIAL PORPHYRIA CUTANEA TARDA

SOURCES: ORPHANET

PORPHYRIA CUTANEA TARDA

Alternate names

PORPHYRIA CUTANEA TARDA Is also known as uroporphyrinogen decarboxylase deficiency, pct, pct, type ii, pct, 'familial' type, urod deficiency, porphyria cutanea tarda, type ii, porphyria, hepatocutaneous type

Description

Porphyria cutanea tarda (PCT) is characterized by light-sensitive dermatitis and the excretion of large amounts of uroporphyrin in urine (Elder et al., 1980).De Verneuil et al. (1978) and others classified porphyria cutanea tarda, the most common type of porphyria, into 2 types: type I (OMIM ), or 'sporadic' type, associated with approximately 50% level of uroporphyrinogen decarboxylase (UROD) in liver (Elder et al., 1978; Felsher et al., 1982), and type II, or 'familial' type, characterized by 50% deficient activity of the same enzyme in many tissues (Kushner et al., 1976; Elder et al., 1980).PCT type II is an autosomal dominant disorder with low penetrance and constitutes about 20% of cases of PCT. Recognized exacerbating factors of PCT include iron overload, excessive use of alcohol, exposure to polyhalogenated aromatic chemicals, exposure to estrogens, chronic viral hepatitis C, HIV infections, and mutation in the HFE gene (OMIM ) that are responsible for hereditary hemochromatosis (OMIM ) (review by Lambrecht et al., 2007).

Most common symptoms of PORPHYRIA CUTANEA TARDA

Anemia
Edema
Alopecia
Carcinoma
Erythema

More info about PORPHYRIA CUTANEA TARDA

SOURCES: OMIM ORPHANET

SPORADIC PORPHYRIA CUTANEA TARDA

Alternate names

SPORADIC PORPHYRIA CUTANEA TARDA Is also known as pct, type i, porphyria cutanea tarda type i, pct, 'sporadic' type

Description

De Verneuil et al. (1978) classified porphyria cutanea tarda (PCT), the most common type of porphyria, into 2 types: type I, or 'sporadic' type, associated with approximately 50% level of uroporphyrinogen decarboxylase (UROD ) in liver (Elder et al., 1978; Felsher et al., 1982), and type II, or 'familial' type (OMIM ), characterized by 50% deficient activity of the same enzyme in many tissues (Kushner et al., 1976; Elder et al., 1980).Type I is the most common form of PCT, comprising 70 to 80% of cases. The causes of the deficiency are often unclear and are probably multifactorial (review by Lambrecht et al., 2007).

Most common symptoms of SPORADIC PORPHYRIA CUTANEA TARDA

Eczema
Hepatitis
Hypertrichosis
Hyperpigmentation of the skin
Hepatic fibrosis

More info about SPORADIC PORPHYRIA CUTANEA TARDA

SOURCES: MESH OMIM ORPHANET

MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7; MVCD7

Alternate names

MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7; MVCD7 Is also known as nephropathy, diabetic, susceptibility to, proliferative retinopathy, diabetic, susceptibility to, nonproliferative retinopathy, diabetic, susceptibility to

More info about MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7; MVCD7

SOURCES: OMIM

TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS 2; TFQTL2

More info about TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS 2; TFQTL2

SOURCES: OMIM

Search interest in HFE

Potential gene panels for HFE gene

HFE Panel

Canada.

By Molecular Diagnostic Laboratory University of Alberta

This panel specifically test the HFE gene.

HFE gene related symptoms and diseases

Top 5 symptoms and clinical features associated to HFE gene

Other less frequent symptoms and clinical features

Not very common - Between 30% and 50% cases

Rarely - Less than 30% cases

Rare diseases associated to HFE gene

ALZHEIMER DISEASE; AD

Alternate names

Description

Most common symptoms of ALZHEIMER DISEASE; AD

SYMPTOMATIC FORM OF HEMOCHROMATOSIS TYPE 1

Alternate names

Description

Most common symptoms of SYMPTOMATIC FORM OF HEMOCHROMATOSIS TYPE 1

HEMOCHROMATOSIS, TYPE 1; HFE1

Alternate names

Description

Most common symptoms of HEMOCHROMATOSIS, TYPE 1; HFE1

PORPHYRIA VARIEGATA

Alternate names

Description

Most common symptoms of PORPHYRIA VARIEGATA

FAMILIAL PORPHYRIA CUTANEA TARDA

Alternate names

PORPHYRIA CUTANEA TARDA

Alternate names

Description

Most common symptoms of PORPHYRIA CUTANEA TARDA

SPORADIC PORPHYRIA CUTANEA TARDA

Alternate names

Description

Most common symptoms of SPORADIC PORPHYRIA CUTANEA TARDA

MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7; MVCD7

Alternate names

TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS 2; TFQTL2

Search interest in HFE

Potential gene panels for HFE gene

HFE Panel

HFE Mutation Panel Panel

Hemochromatosis Panel

Hereditary hemochromatosis Panel

Hemochromatosis Panel

HFE-Associated Hereditary Hemochromatosis Panel

Hemochromatosis, C282Y with reflex to H63D Panel

Hemochromatosis, H63D Panel

HFE Targeted Mutation Analysis for Hemochromatosis Panel

Hereditary Hemochromatosis Panel

HFE Genotype Analysis Panel

HFE Deletion/duplication analysis Panel

Hereditary Hemochromatosis Panel

Hereditary Hemochromatosis Panel

Hyperferritinemia Panel Panel

Hereditary Hemochromatosis (HFE) Panel

HFE - Associated Hereditary Hemochromatosis Panel

Hereditary Hemochromatosis Panel

HFE. Detection of the mutations p.Cys282Tyr, p.His63Asp and p.Ser65Cys by sequencing Panel

HFE. Complete sequencing Panel

CHOP Comprehensive Hereditary Cancer Panel Panel

Hemochromatosis (frequent mutations of HFE gene) Panel

Hemochromatosis (sequence analysis of HFE gene) Panel

Hemochromatosis (NGS panel for 8 genes) Panel

Hemochromatosis (NGS panel for 8 genes) Panel

Hereditary hemocromatosis Panel

HFE-associated hereditary hemochromatosis Panel

Haemochromatosis Panel

HFE-Associated Hereditary Hemochromatosis Panel

Hereditary Hemochromatosis via HFE Gene Sequencing with CNV Detection Panel

Hereditary Hemochromatosis Sequencing Panel with CNV Detection Panel

Comprehensive Cardiology Sequencing Panel with CNV Detection Panel

Female Infertility Sequencing Panel with CNV Detection Panel

Male Infertility Sequencing Panel with CNV Detection Panel

Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection Panel

Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection Panel

HFE-Associated Hereditary Hemochromatosis Panel

HFE-Associated Hereditary Hemochromatosis Panel

Hepatic and pancreatic diseases - panels Panel

HFE-Associated Hereditary Hemochromatosis Panel

Hemochromatosis Panel

HFE-Associated Hereditary Hemochromatosis Panel

AllNeuro panel Panel