Symptomatic Form Of Hemochromatosis Type 1

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

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.

Genes related to Symptomatic Form Of Hemochromatosis Type 1

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Clinical Features

Top most frequent phenotypes and symptoms related to Symptomatic Form Of Hemochromatosis Type 1

Peripheral neuropathy
Hepatomegaly
Fatigue
Cardiomyopathy
Congestive heart failure
Splenomegaly
Alopecia
Osteoporosis
Hypogonadism
Diabetes mellitus

And another 18 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Alternative names

Symptomatic Form Of Hemochromatosis Type 1 Is also known as symptomatic form of hfe-related hereditary hemochromatosis, symptomatic form of classic hemochromatosis.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Symptomatic Form Of Hemochromatosis Type 1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
HFE. By Molecular Diagnostic Laboratory University of Alberta (Canada). HFE Specificity 100 % Genes 100 %
HFE Mutation Panel. By Baylor Miraca Genetics Laboratories (United States). HFE Specificity 100 % Genes 100 %
Hemochromatosis. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). HFE Specificity 100 % Genes 100 %
Hereditary hemochromatosis. By Center for Human Genetics, Inc (United States). HFE Specificity 100 % Genes 100 %
Hemochromatosis. By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" (Argentina). HFE Specificity 100 % Genes 100 %
HFE-Associated Hereditary Hemochromatosis. By UCSF Molecular Diagnostics Laboratory University of California, San Francisco (United States). HFE Specificity 100 % Genes 100 %
Hemochromatosis, C282Y with reflex to H63D. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States). HFE Specificity 100 % Genes 100 %
Hemochromatosis, H63D. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States). HFE Specificity 100 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Symptoms Checker

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