INT80481

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Context Info
Confidence 0.52
First Reported 1999
Last Reported 2007
Negated 0
Speculated 2
Reported most in Abstract
Documents 2
Total Number 5
Disease Relevance 3.69
Pain Relevance 0.47

This is a graph with borders and nodes. Maybe there is an Imagemap used so the nodes may be linking to some Pages.

mitochondrion (FECH)
Anatomy Mention Frequency
liver 1
FECH (Bos taurus)
Pain Term Frequency Confidence Heat
Pain 5 97.04 Very High Very High Very High
pruritus 2 82.08 Quite High
Disease Term Frequency Confidence Heat
Porphyria 6 99.78 Very High Very High Very High
Erythropoietic Protoporphyria 33 98.84 Very High Very High Very High
Sunburn 5 96.52 Very High Very High Very High
Liver Disease 3 95.40 Very High Very High Very High
Disease 4 84.88 Quite High
Pruritus 4 82.08 Quite High
Malignant Neoplastic Disease 2 68.00 Quite High

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
Erythropoietic protoporphyria (EPP, MIM 177000) is an inherited disorder caused by a partial deficiency of ferrochelatase (FECH) which catalyses the chelation of iron into protoporphyrin to form haem.
Spec (partial) Negative_regulation (deficiency) of FECH associated with erythropoietic protoporphyria
1) Confidence 0.52 Published 2000 Journal Eur. J. Pediatr. Section Abstract Doc Link 11039124 Disease Relevance 0.26 Pain Relevance 0.09
Reduced FECH activity leads to accumulation of protoporphyrin in various tissues.
Negative_regulation (Reduced) of FECH
2) Confidence 0.34 Published 2007 Journal Br. J. Dermatol. Section Abstract Doc Link 17711525 Disease Relevance 0.91 Pain Relevance 0.12
Erythropoietic protoporphyria (EPP) is an inherited disorder of haem biosynthesis caused by decreased activity of the enzyme ferrochelatase (FECH), which catalyses the insertion of iron into protoporphyrin, the last step in haem biosynthesis.
Negative_regulation (decreased) of FECH associated with porphyria and erythropoietic protoporphyria
3) Confidence 0.34 Published 2007 Journal Br. J. Dermatol. Section Abstract Doc Link 17711525 Disease Relevance 0.75 Pain Relevance 0.09
We now show that (1) coinheritance of a FECH gene defect and a wild-type low-expressed allele is generally involved in the clinical expression of EPP; (2) the low-expressed allelic variant was strongly associated with a partial 5' haplotype [-251G IVS1-23T IVS2microsatA9] that may be ancestral and was present in an estimated 10% of a control group of Caucasian origin; and (3) haplotyping allows the absolute risk of developing the disease to be predicted for those inheriting FECH EPP mutations.
Negative_regulation (defect) of FECH gene associated with erythropoietic protoporphyria and disease
4) Confidence 0.25 Published 1999 Journal Blood Section Abstract Doc Link 10068685 Disease Relevance 1.00 Pain Relevance 0.07
Erythropoietic protoporphyria (EPP) is a rare autosomal dominant disorder of heme biosynthesis characterized by partial decrease in ferrochelatase (FECH; EC 4.99.1.1) activity with protoporphyrin overproduction and consequent painful skin photosensitivity and rarely liver disease.
Spec (partial) Negative_regulation (decrease) of FECH in liver associated with liver disease, pain, porphyria, sunburn and erythropoietic protoporphyria
5) Confidence 0.24 Published 1999 Journal Blood Section Abstract Doc Link 10068685 Disease Relevance 0.77 Pain Relevance 0.10

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