INT282679

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Context Info
Confidence 0.12
First Reported 2009
Last Reported 2009
Negated 0
Speculated 0
Reported most in Body
Documents 1
Total Number 6
Disease Relevance 9.57
Pain Relevance 0.23

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

generation of precursor metabolites and energy (FECH) mitochondrion (FECH) small molecule metabolic process (FECH)
Anatomy Link Frequency
liver 5
FECH (Homo sapiens)
Pain Link Frequency Relevance Heat
tolerance 18 94.16 High High
Pain 30 86.08 High High
Bile 12 58.44 Quite High
fibrosis 12 50.40 Quite High
imagery 24 43.44 Quite Low
alcohol 6 32.00 Quite Low
Inflammation 24 5.00 Very Low Very Low Very Low
corticosteroid 12 5.00 Very Low Very Low Very Low
cINOD 6 5.00 Very Low Very Low Very Low
Antihistamine 6 5.00 Very Low Very Low Very Low
Disease Link Frequency Relevance Heat
Erythropoietic Protoporphyria 528 100.00 Very High Very High Very High
Liver Disease 156 100.00 Very High Very High Very High
Disease 114 100.00 Very High Very High Very High
Gallstones 48 99.44 Very High Very High Very High
Emergencies 6 98.36 Very High Very High Very High
Hepatitis 12 96.76 Very High Very High Very High
Iron Overload 12 96.32 Very High Very High Very High
Acute Liver Failure 24 95.68 Very High Very High Very High
Anaemia 42 95.28 Very High Very High Very High
Alcoholic Fatty Liver 6 94.92 High High

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
Liver biopsy should be indicated in patients with null mutations or recessive inherited disease, patients from families with previous cases of EPP liver disease, and in individuals with EPP plus other risk factors for liver disease (such as hepatitis, haemochromatosis, alcoholic or non-alcoholic fatty liver disease, abnormal liver function tests).
Localization (disease) of EPP in liver associated with liver disease, erythropoietic protoporphyria, alcoholic fatty liver, iron overload, disease and hepatitis
1) Confidence 0.12 Published 2009 Journal Orphanet J Rare Dis Section Body Doc Link PMC2747912 Disease Relevance 1.82 Pain Relevance 0.06
Hepatic disease in EPP may include: cholelithiasis with possible obstructive episodes and chronic liver disease evolving to rapid acute hepatic failure [12,13].
Localization (disease) of EPP in liver associated with liver disease, erythropoietic protoporphyria, acute liver failure, gallstones and disease
2) Confidence 0.12 Published 2009 Journal Orphanet J Rare Dis Section Body Doc Link PMC2747912 Disease Relevance 2.00 Pain Relevance 0
Despite advances in techniques for mutation detection and the discovery of gain in function mutations of ALAS2 as a cause of EPP, in about 5% of EPP families no mutations in neither FECH or ALAS2 genes have been identified.
Localization (cause) of EPP associated with erythropoietic protoporphyria
3) Confidence 0.12 Published 2009 Journal Orphanet J Rare Dis Section Body Doc Link PMC2747912 Disease Relevance 0.85 Pain Relevance 0
Progressive liver disease in EPP patients should be considered a medical emergency and, therefore, liver transplantation has ben indicated in patiens with EPP.
Localization (disease) of EPP in liver associated with liver disease, emergencies and erythropoietic protoporphyria
4) Confidence 0.12 Published 2009 Journal Orphanet J Rare Dis Section Body Doc Link PMC2747912 Disease Relevance 1.56 Pain Relevance 0.03
As protoporphyrin is a lipophilic molecule that is excreted by the liver, EPP patients are at risk of cholelithiasis with obstructive episodes, and chronic liver disease that might evolve to rapid acute liver failure.
Localization (excreted) of EPP in liver associated with liver disease, erythropoietic protoporphyria, acute liver failure and gallstones
5) Confidence 0.12 Published 2009 Journal Orphanet J Rare Dis Section Abstract Doc Link PMC2747912 Disease Relevance 1.57 Pain Relevance 0.09
A proposal of guidelines to identify liver disease in EPP patients has been published by Anstey and Rift very recently [58].
Localization (disease) of EPP in liver associated with liver disease and erythropoietic protoporphyria
6) Confidence 0.12 Published 2009 Journal Orphanet J Rare Dis Section Body Doc Link PMC2747912 Disease Relevance 1.78 Pain Relevance 0.05

General Comments

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