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:C0032463 (
polycythemia vera
)
3,374
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Porphyrias are inherited disorders of heme biosynthesis. ALA dehydratase porphyria (ADP) and
congenital erythropoietic porphyria
(
CEP
) are autosomal recessive porphyrias, and are typically expressed at birth or in childhood. However, a few cases of late-onset recessive porphyrias have been reported. Recently we encountered a late-onset ADP patient who developed symptoms of acute porphyria when he was 63 years old. This was accompanied by
polycythemia vera
. It was concluded that he developed the porphyria because an abnormal ALAD allele was clonally expanded by
polycythemia vera
. Upon reviewing the literature, a few cases of late-onset
CEP
were found to be also associated with hematologic abnormalities suggestive of myelodysplastic syndrome (MDS), another clonal disorder. These findings suggest that these late-onset porphyrias may be heterozygous for their gene defects, but clinical expression may be elicited if there is a loss of heterozygosity, either by a clonal expansion of the porphyric allele or by a loss of function mutation in the other allele.
...
PMID:Late-onset porphyrias: what are they? 1192 54
