INT140116

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Context Info
Confidence 0.04
First Reported 2006
Last Reported 2006
Negated 0
Speculated 0
Reported most in Body
Documents 2
Total Number 3
Disease Relevance 2.78
Pain Relevance 0.30

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

transport (Sdhd) mitochondrion (Sdhd)
Anatomy Link Frequency
neck 1
germline 1
head 1
Sdhd (Rattus norvegicus)
Pain Link Frequency Relevance Heat
vincristine 2 86.40 High High
anesthesia 1 78.88 Quite High
Catecholamine 7 75.84 Quite High
imagery 1 71.52 Quite High
Somatostatin 4 65.32 Quite High
noradrenaline 2 46.48 Quite Low
Dopamine 4 45.76 Quite Low
cva 6 19.80 Low Low
medulla 12 5.00 Very Low Very Low Very Low
positron emission tomography 8 5.00 Very Low Very Low Very Low
Disease Link Frequency Relevance Heat
Disease 31 100.00 Very High Very High Very High
Watson Syndrome 9 99.68 Very High Very High Very High
Multiple Endocrine Neoplasia Type 2a 9 99.08 Very High Very High Very High
Paraganglioma 119 98.48 Very High Very High Very High
Syndrome 13 97.86 Very High Very High Very High
Cancer 46 95.12 Very High Very High Very High
Pheochromocytoma 9 89.44 High High
Cardiovascular Disease 2 87.12 High High
Malignant Neoplastic Disease 11 82.32 Quite High
Stress 1 79.64 Quite High

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
So far, germline mutations in five genes have been identified to be responsible for familial PHEOs: the von Hippel-Lindau gene, which causes von Hippel-Lindau syndrome, the RET gene leading to multiple endocrine neoplasia type 2, the neurofibromatosis type 1 gene, which is associated with von Recklinghausen's disease and the genes encoding the B and D subunits of mitochondrial succinate dehydrogenase (SDHB, SDHD), which are associated with familial paragangliomas and PHEOs.
SDHD Binding (associated) of in germline associated with multiple endocrine neoplasia type 2a, syndrome, paraganglioma, disease and watson syndrome
1) Confidence 0.04 Published 2006 Journal Kidney Blood Press. Res. Section Abstract Doc Link 17119341 Disease Relevance 1.24 Pain Relevance 0.15
Practical guidelines for clinicians

• especially children of fathers with a SDHD mutation have to be investigated periodically • early diagnosis is indicated, because morbidity is related to the diameter of the tumour • if possible, resection of a paraganglioma has to be performed at an early stage • preferably, the surgical procedure should be performed by surgeons with experience in the head and neck region and in techniques of vascular reconstruction • DNA analysis of children from families with a known SDH mutation has to be performed before the age of 5 years



SDHD Binding (mutation) of in neck associated with cancer and paraganglioma
2) Confidence 0.03 Published 2006 Journal Hered Cancer Clin Pract Section Body Doc Link PMC2837305 Disease Relevance 0.77 Pain Relevance 0.08
Practical guidelines for clinicians

• especially children of fathers with a SDHD mutation have to be investigated periodically • early diagnosis is indicated, because morbidity is related to the diameter of the tumour • if possible, resection of a paraganglioma has to be performed at an early stage • preferably, the surgical procedure should be performed by surgeons with experience in the head and neck region and in techniques of vascular reconstruction • DNA analysis of children from families with a known SDH mutation has to be performed before the age of 5 years



SDHD Binding (mutation) of in head associated with cancer and paraganglioma
3) Confidence 0.01 Published 2006 Journal Hered Cancer Clin Pract Section Body Doc Link PMC2837305 Disease Relevance 0.77 Pain Relevance 0.08

General Comments

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