Hemochromatosis, type 1

Preferred Label : Hemochromatosis, type 1;

Symbol : HFE1;

CISMeF acronym : HFE1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : HH; Hemochromatosis, hereditary; HFE; Hemochromatosis;

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 Hemochromatosis At 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 (602390), caused by mutation in the HJV gene (608374) on chromosome 1q21, and HFE2B (613313), caused by mutation in the HAMP gene (606464) on chromosome 19q13. Hemochromatosis type 3 (HFE3; 604250), an autosomal recessive disorder, is caused by mutation in the TFR2 gene (604720) on chromosome 7q22. Hemochromatosis type 4 (HFE4; 606069), an autosomal dominant disorder, is caused by mutation in the SLC40A1 gene (604653) on chromosome 2q32. Hemochromatosis type 5 (HFE5; 615517) is caused by mutation in the FTH1 gene (134770) on chromosome 11q12.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the hereditary hemochromatosis gene (HFE, 613609.0001);

Laboratory abnormalities : Increased transaminases; Increased serum iron; Increased transferrin saturation ( 60%); Increased serum ferritin; Increased hepatic parenchymal cell stainable iron;

Prefixed ID : #235200;

Details

Origin ID

235200;

UMLS CUI

C3469186;

Automatic exact mappings (from CISMeF team)
- Department of Health and Human Services [NCIt concept]
- Disorders of iron metabolism [ICD-10 Sub-category (who)]
- HFE Gene [NCIt concept]
- HFE wt Allele [NCIt concept]
- Hemochromatosis [NCIt concept]
- Hemochromatosis [ACR pathology]
- Hemochromatosis [ACR pathology]
- Hemochromatosis [ACR pathology]
- Hereditary Hemochromatosis Protein [NCIt concept]
- Home Health Encounter [NCIt concept]
- hereditary hemochromatosis [Blood Transfusion thesaurus concept]
- homeostatic iron regulator [HGNC gene]
- homeostatic iron regulator [ORDO Gene]
- hypogonadotropic hypogonadism [MeSH concept]
DO Cross reference
- hemochromatosis type 1 [DO Concept]
Genes related to phenotype
- Bone morphogenetic protein 2 [OMIM gene]
- Homeostatic iron regulator [OMIM gene]
HPO term(s)
- Abdominal pain [HPO term]
- Abnormality of cardiac conduction [HPO term]
- Alopecia [HPO term]
- Amenorrhea [HPO term]
- Arrhythmia [HPO term]
- Arthropathy [HPO term]
- Ascites [HPO term]
- Autosomal recessive inheritance [HPO term]
- Azoospermia [HPO term]
- Cardiomegaly [HPO term]
- Cardiomyopathy [HPO term]
- Cirrhosis [HPO term]
- Congestive heart failure [HPO term]
- Diabetes mellitus [HPO term]
- Elevated hepatic transaminase [HPO term]
- Glucose intolerance [HPO term]
- Hepatocellular carcinoma [HPO term]
- Hepatomegaly [HPO term]
- Hyperpigmentation of the skin [HPO term]
- Hypogonadotropic hypogonadism [HPO term]
- Impotence [HPO term]
- Increased circulating ferritin concentration [HPO term]
- Increased serum iron [HPO term]
- Osteoporosis [HPO term]
- Pleural effusion [HPO term]
- Splenomegaly [HPO term]
- Telangiectasia [HPO term]
- Testicular atrophy [HPO term]
ORDO concept(s)
- Hemochromatosis type 1 [ORDO Disease]
- Symptomatic form of hemochromatosis type 1 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hemochromatosis type 1 (disorder) [SNOMED CT concept]
Validated automatic mappings to BTNT
- HFE-related hereditary haemochromatosis, Type 1 [ICD-11 More detail]
- Hemochromatosis type 1 (disorder) [SNOMED CT concept]
- Hereditary hemochromatosis (disorder) [SNOMED CT concept]
Validated automatic mappings to NTBT
- hemochromatosis [Disease (Nov.)]

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