Symptomatic Form Of Hemochromatosis Type 1

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.

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

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.


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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

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like STARGARDT DISEASE ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY; PEAMO DYSKERATOSIS, HEREDITARY BENIGN INTRAEPITHELIAL; HBID AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE; ALS4 EPIDERMOLYSIS BULLOSA, NONSPECIFIC, AUTOSOMAL RECESSIVE; EBNS HYPERMANGANESEMIA WITH DYSTONIA 1; HMNDYT1 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Q; CMT2Q

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