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: EC:1.5.7.1 (
methylenetetrahydrofolate reductase
)
2,116
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Sarcoidosis
is a multisystem granulomatous disease of unknown etiology and pathogenesis. It presents in patients younger than 40 years of age. The lungs are the most commonly affected organ. Till the present day, there is no single specific test that will accurately diagnose
sarcoidosis
; as a result, the diagnosis of
sarcoidosis
relies on a combination of clinical, radiologic, and histologic findings. Patients with
sarcoidosis
have been found to have an increased risk of pulmonary embolism compared to the normal population. MTHFR and factor V Leiden mutations have been reported to increase the risk of thrombosis in patients. We hereby present a case of a middle aged man with
sarcoidosis
who developed a right main pulmonary embolism and was found to be double heterozygous for
methylenetetrahydrofolate reductase
gene polymorphisms and factor V Leiden and homozygous for the D-allele of the angiotensin converting enzyme gene.
...
PMID:Pulmonary Embolism in a Sarcoidosis Patient Double Heterozygous for Methylenetetrahydrofolate Reductase Gene Polymorphisms and Factor V Leiden and Homozygous for the D-Allele of Angiotensin Converting Enzyme Gene. 2634 83
