Hemochromatosis, type 4

Preferred Label : Hemochromatosis, type 4;

Symbol : HFE4;

CISMeF acronym : HFE4;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hemochromatosis, autosomal dominant; Hemochromatosis due to defect in ferroportin;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the solute carrier family 40 (iron-regulated transporter), member 1 gene (SLC40A1, 604653.0001);

Laboratory abnormalities : Increased serum ferritin; Increased transferrin saturation;

Prefixed ID : #606069;

Details

Origin ID

606069;

UMLS CUI

C1853733;

Automatic exact mappings (from CISMeF team)
- Ferroportin disease [MedDRA LLT]
- solute carrier family 40 member 1 [ORDO Gene]
- solute carrier family 40 member 1 [HGNC gene]
Currated CISMeF NLP mapping
- Autosomal dominant hereditary hemochromatosis (disorder) [SNOMED CT concept]
- Hemochromatosis type 4 [ORDO Disease]
- Hemochromatosis, type 4 [MeSH concept]
- Non-HFE-related hereditary haemochromatosis, Type 4 [ICD-11 More detail]
- hemochromatosis type 4 [DO Concept]
- hemochromatosis, type 4 [MeSH Supplementary Concept]
DO Cross reference
- hemochromatosis type 4 [DO Concept]
Genes related to phenotype
- Solute carrier family 40 (iron-regulated transporter), member 1 [OMIM gene]
HPO term(s)
- Anemia [HPO term]
- Arrhythmia [HPO term]
- Arthralgia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cardiomyopathy [HPO term]
- Cataract [HPO term]
- Cirrhosis [HPO term]
- Diabetes mellitus [HPO term]
- Elevated transferrin saturation [HPO term]
- Fatigue [HPO term]
- Glucose intolerance [HPO term]
- Hepatic steatosis [HPO term]
- Hepatomegaly [HPO term]
- Hyperpigmentation of the skin [HPO term]
- Impaired glucose tolerance [HPO term]
- Impotence [HPO term]
- Increased circulating ferritin concentration [HPO term]
- Osteoarthritis [HPO term]
- obsolete Glucose intolerance [HPO term]
ORDO concept(s)
- Hemochromatosis type 4 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant hereditary hemochromatosis (disorder) [SNOMED CT concept]
- Ferroportin disease [MedDRA LLT]
- Hemochromatosis type 4 [ORDO Disease]
- Hemochromatosis, type 4 [MeSH concept]
- Non-HFE-related hereditary haemochromatosis, Type 4 [ICD-11 More detail]
- hemochromatosis type 4 [DO Concept]
- hemochromatosis, type 4 [MeSH Supplementary Concept]

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