Hemochromatosis, type 3

Preferred Label : Hemochromatosis, type 3;

Symbol : HFE3;

CISMeF acronym : HFE3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hemochromatosis due to defect in transferrin receptor 2;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the transferrin receptor 2 gene (TFR2, 604720.0001);

Laboratory abnormalities : Increased transferrin saturation; Increased serum ferritin; Increased liver transaminases; Increased serum iron;

Prefixed ID : #604250;

Details

Origin ID

604250;

UMLS CUI

C1858664;

Automatic exact mappings (from CISMeF team)
- TFR2 wt Allele [NCIt concept]
- transferrin receptor 2 [ORDO Gene]
- transferrin receptor 2 [HGNC gene]
Currated CISMeF NLP mapping
- Hemochromatosis type 3 (disorder) [SNOMED CT concept]
- Hemochromatosis, type 3 [MeSH concept]
- TFR2-related hemochromatosis [ORDO Disease]
- hemochromatosis type 3 [DO Concept]
- hemochromatosis, type 3 [MeSH Supplementary Concept]
DO Cross reference
- hemochromatosis type 3 [DO Concept]
False automatic mappings
- Hemochromatosis type 1 [ORDO Disease]
Genes related to phenotype
- Transferrin receptor 2 [OMIM gene]
HPO term(s)
- Amenorrhea [HPO term]
- Anemia [HPO term]
- Arthritis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cardiomyopathy [HPO term]
- Cirrhosis [HPO term]
- Elevated hepatic transaminase [HPO term]
- Elevated transferrin saturation [HPO term]
- Fatigue [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]
- Lymphopenia [HPO term]
- Neutropenia [HPO term]
- Purpura [HPO term]
ORDO concept(s)
- TFR2-related hemochromatosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hemochromatosis type 3 (disorder) [SNOMED CT concept]
- Hemochromatosis, type 3 [MeSH concept]
- TFR2-related hemochromatosis [ORDO Disease]
- hemochromatosis type 3 [DO Concept]
- hemochromatosis, type 3 [MeSH Supplementary Concept]

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