INT140116

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

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 anesthesia 1 78.88 Catecholamine 7 75.84 imagery 1 71.52 Somatostatin 4 65.32 noradrenaline 2 46.48 Dopamine 4 45.76 cva 6 19.80 medulla 12 5.00 positron emission tomography 8 5.00

Disease Link Frequency Relevance Heat Disease 31 100.00 Watson Syndrome 9 99.68 Multiple Endocrine Neoplasia Type 2a 9 99.08 Paraganglioma 119 98.48 Syndrome 13 97.86 Cancer 46 95.12 Pheochromocytoma 9 89.44 Cardiovascular Disease 2 87.12 Malignant Neoplastic Disease 11 82.32 Stress 1 79.64

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

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