Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0023380 (
lethargy
)
5,697
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
A 30-year-old woman was found to have hyperferritinaemia after presenting with menorrhagia and
lethargy
. Serum iron studies did not confirm iron overload. Further investigations revealed two distinct genetic mutations of iron haemostasis--homozygosity for C282Y mutation of the HFE gene on chromosome 6 and heterozygosity for A40G mutation in the iron response element of
ferritin light chain
on chromosome 19. These mutations are responsible for the diseases hereditary haemochromatosis (autosomal recessive) and hereditary hyperferritinaemia-cataract syndrome (autosomal dominant) respectively. This is the first description of such a patient.
...
PMID:Dual diagnoses of hereditary hyperferritinaemia-cataract syndrome and hereditary haemochromatosis. 1699 31
