eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| juvenile hemochromatosis | ||||
| Disease ID | 1846 |
|---|---|
| Disease | juvenile hemochromatosis |
| Definition | Juvenile hemochromatosis is a rare genetic disorder characterized by the accumulation of iron in various organs of the body. Symptoms usually become apparent before the age of 30. The specific symptoms and severity of juvenile hemochromatosis vary from one person to another. Common symptoms include absent or decreased function of the testes in males or ovaries in females (hypotrophic hypogonadism), heart (cardiac) disease, scarring of the liver (cirrhosis), joint disease, diabetes, and dark discoloration of patches of skin (hyperpigmentation). These symptoms are similar to those seen in classic hereditary hemochromatosis. However, the symptoms associated with juvenile hemochromatosis occur at an early age and are usually more severe. If untreated, juvenile hemochromatosis can potentially cause life-threatening complications. Juvenile hemochromatosis is caused by mutations of one of at least two genes (the HJV and HAMP genes). These mutations are inherited as an autosomal recessive trait.Juvenile hemochromatosis is classified as an iron overload disorder. It is a separate, distinct disorder from classic hereditary hemochromatosis. Juvenile hemochromatosis is caused by mutations to different genes and generally has an earlier age of onset and more severe iron accumulation. - NORD Reference: NORD |
| Synonym | hemochromatosis juvenile hemochromatosis, juvenile hemochromatosis, type 2 hfe2 jh juvenile haemochromatosis juvenile hemochromatosis (disorder) |
| Orphanet | |
| UMLS | C0268060 |
| SNOMED-CT | |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:4) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1846 |
|---|---|
| Disease | juvenile hemochromatosis |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1846 |
|---|---|
| Disease | juvenile hemochromatosis |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:4) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
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| (Waiting for update.) | |
All Snps(Total Genotypes:1) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs74315323 | 15194541 | 148738 | HFE2 | umls:C0268060 | BeFree | Prevalence of the G320V mutation of the HJV gene, associated with juvenile hemochromatosis, in Greece. | 0.245428837 | 2004 | HFE2 | 1 | 146018399 | C | A |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
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| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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| (Waiting for update.) |
| Disease ID | 1846 |
|---|---|
| Disease | juvenile hemochromatosis |
| Case | (Waiting for update.) |