Hemochromatosis, type 5

Preferred Label : Hemochromatosis, type 5;

Symbol : HFE5;

CISMeF acronym : HFE5;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Iron overload, autosomal dominant;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the ferritin heavy chain-1 gene (FTH1, 134770.0001);

Laboratory abnormalities : Elevated serum iron; Elevated serum ferritin; Elevated serum transferrin saturation; Elevated total iron-binding capacity;

Prefixed ID : #615517;

Details

Origin ID

615517;

UMLS CUI

C1851316;

Automatic exact mappings (from CISMeF team)
- FTH1-related iron overload [ORDO Disease]
- Hemochromatosis type 5 [ORDO Disease]
- iron overload, autosomal dominant [MeSH concept]
- iron overload, autosomal dominant [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- hemochromatosis type 5 [DO Concept]
DO Cross reference
- hemochromatosis type 5 [DO Concept]
Genes related to phenotype
- Ferritin heavy chain 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Increased circulating ferritin concentration [HPO term]
ORDO concept(s)
- FTH1-related iron overload [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ferritin heavy chain 1-related iron overload (disorder) [SNOMED CT concept]
- hemochromatosis type 5 [DO Concept]
- iron overload, autosomal dominant [MeSH concept]
- iron overload, autosomal dominant [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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