Mitochondria Phenome Knowledgebase

Gene Symbol FECH
Ensembl ID ENSG00000066926 Entrez 2235
Gene Alias EPP; FCE Subcellular Locations Mitochondria Mitochondrial-inner-membrane
Map Position 18q21.3 Subcell PMIDs 1985464
OMIM Gene 177000 Protein Complex
Swissprot ID P22830 Swissprot Description Ferrochelatase, mitochondrial precursor
OMIM Disease Erythropoietic protoporphyria (EPP) [177000]

Gene-Feature associations that are associated with 1 Gene

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
FECH 177000 Digestive-system-diseases gastrointestinal #1251847 #1755842 #7910885 #8244265 #8500787 #8873010 #9585598 #9649563 #10433022 #10832676 #10942404 #16150949 #16315313
FECH 177000 Biliary-tract-diseases gastrointestinal #1251847 #1755842 #8500787 #8873010 #9585598 #9649563 #16150949 #16315313
FECH 177000 Cholestasis canalicular gastrointestinal 8500787 8873010 9585598 9649563 16150949 16315313
FECH 177000 Cholelithiasis gall stones; protoporphyrin; choledocholithiasis gastrointestinal 1251847 1755842 8873010 9585598
FECH 177000 Gastrointestinal-diseases dyspepsia gastrointestinal 8873010 #10433022 #10832676 #16150949
FECH 177000 Esophageal-varices rupture of varices gastrointestinal 10433022
FECH 177000 Intestinal-obstruction constipation; paralytic ileus gastrointestinal 10832676
FECH 177000 Gastrointestinal-hemorrhage intestinal hemorrhage; multiple; melena; duodenal ulcer; perforated abdominal viscus gastrointestinal 10433022 16150949
FECH 177000 Liver-diseases hepatic failure; birefringent protoporphyrin pigment deposits; hepatocytes abnormal; Kupffer cells; biliary structures abnormal; star burst patterns; liver necrosis; porphyric liver disease; blue patches; hepatic damage gastrointestinal 1251847 1755842 7910885 8244265 8500787 8873010 9585598 9649563 10433022 10832676 10942404 #16150949 16315313
FECH 177000 Liver-cirrhosis nodular; pseudolobular formations; fibrosis; micronodular cirrhosis gastrointestinal 9649563 10433022 10942404 16315313
FECH 177000 Liver-enzymes-abnormal ALT elevated; AST elevated; GGT elevated gastrointestinal 9585598 10433022 10832676 16150949
FECH 177000 Hepatomegaly ascites gastrointestinal 10433022 10832676 16150949
FECH 177000 Pancreatic-diseases gastrointestinal #10832676
FECH 177000 Pancreatitis acute pancreatitis; amylase elevated; lipase elevated gastrointestinal 10832676
FECH 177000 Abdominal-pain hypogastric pain; colicky upper abdominal pain; episodes; right upper abdominal pain gastrointestinal 8244265 8873010 10433022 10832676 16315313
FECH 177000 Vomiting persistent vomiting; nausea; episodes gastrointestinal 10832676
FECH 177000 Respiratory-tract-diseases respiratory #10433022 #11886534
FECH 177000 Lung-diseases respiratory #10433022
FECH 177000 Pulmonary-hemorrhage bilateral pulmonary hemorrhage respiratory 10433022
FECH 177000 Respiration-disorders respiratory #10433022 #11886534
FECH 177000 Respiratory-insufficiency dyspnoea respiratory 10433022 11886534
FECH 177000 Nervous-system-diseases neurologic #8873010 #11886534 #16150949 #16315313
FECH 177000 Central-nervous-system-diseases neurologic #16150949
FECH 177000 Brain-diseases neurologic #16150949
FECH 177000 Encephalopathy grade I encephalopathy neurologic 16150949
FECH 177000 Neurologic-manifestations neurologic #11886534
FECH 177000 Neurobehavioral-manifestations neurologic #11886534
FECH 177000 Lethargy neurologic 11886534
FECH 177000 Peripheral-nervous-system-diseases neurologic #8873010 #16315313
FECH 177000 Polyneuropathies peripheral neuropathy; polyneuropathy; axonal neuropathy neurologic 8873010 16315313
FECH 177000 Hematologic-diseases hematologic #1251847 #8244265 #10433022 #10832676 #11886534 #16150949 #16315313
FECH 177000 Anemia mild; hemolytic; hemolysis; refractory anemia hematologic 1251847 8244265 10433022 10832676 11886534
FECH 177000 Blood-coagulation-disorders prothrombin time prolonged hematologic #1251847 16150949
FECH 177000 Petechiae petechiae and residual scarring occurred less frequently hematologic 1251847
FECH 177000 Blood-platelet-disorders hematologic #10832676 #11886534
FECH 177000 Thrombocytopenia hematologic 10832676 11886534
FECH 177000 Bone-marrow-diseases myelodysplasia; myeloproliferative disorder; hypercellular; megakaryocytes elevated; porphyric erythroid cells; extramedullary hematopoiesis; ring sideroblasts hematologic 11886534 16150949 16315313
FECH 177000 Hemoglobin-levels-abnormal hemoglobin deficiency hematologic 10832676 11886534 16150949
FECH 177000 Leukocyte-disorders hematologic #11886534
FECH 177000 Leukopenia hematologic 11886534
FECH 177000 Pancytopenia peripheral blood pancytopenia hematologic 11886534
FECH 177000 Polycythemia polycythemia vera hematologic 16150949
FECH 177000 Skin-diseases itching; erythema; edema; vesicles; light sensitive dermatitis; light sensitive; burning; burning sensation dermatologic 1251847 #1729699 1755842 #7910885 #8244265 #8500787 #9585598 #10433022 #10832676 10942404 11886534 #16150949 16315313
FECH 177000 Photosensitivity-disorders cutaneous photosensitivity; painful; photoburning; burning dermatologic 1251847 1729699 1755842 7910885 8244265 8500787 9585598 10433022 10832676 10942404 11886534 16150949 16315313
FECH 177000 Pigmentation-disorders skin deposits; dark brown pigment dermatologic 10433022
FECH 177000 Pruritus itching; residual scarring dermatologic 1251847 1755842
FECH 177000 Sweat-gland-diseases dermatologic #10832676
FECH 177000 Hyperhidrosis profound sweating dermatologic 10832676
FECH 177000 Metabolic-diseases metabolic #1729699 #1755842 #7910885 #8244265 #8500787 #8873010 #9585598 #9649563 #10433022 #10832676 #10942404 #11886534 #16150949 #16315313
FECH 177000 Hyperbilirubinemia bilirubin elevated; jaundice metabolic 8500787 8873010 10433022 10832676 16150949 16315313
FECH 177000 Hyperuricemia uric acid levels elevated metabolic 16150949
FECH 177000 Porphyrins-abnormal protoporphyrin elevated; coproporphyrin elevated; feces; erythrocytes; plasma; skin; bile; feces; not in urine metabolic 1729699 1755842 7910885 8244265 8500787 8873010 9585598 9649563 10433022 10832676 10942404 11886534 16150949 16315313
FECH 177000 Porphyrinuria coproporphyrinuria; uroporphyrinuria; red colored urine; dark brown urine metabolic 8873010 10832676
FECH 177000 Exercise-intolerance fatigue miscellaneous 10832676
FECH 177000 Splenomegaly splenic infarctions; extramedullary hematopoiesis miscellaneous 10433022 10832676 16150949
FECH 177000 Alkaline-phosphatase-abnormal elevated miscellaneous 10433022 10832676 16150949

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