Debug Stats | ### Total Build Time: 38 ms 30.152 KB CONCEPT_NAME gt=7 ms Completed: 7 ms rowSize= 322 bytesCONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytesCONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 670 bytes- Skipping details on:
CONCEPT_SYNONYM gt=NONE 0 Completed: 0 ms rowSize= 0 bytes - Skipping details on:
CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes CONCEPT_SEMANTIC_TYPE gt=0 Completed: 0 ms rowSize= 187 bytes- Skipping details on:
CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes CONCEPT_PARENTS gt=7 ms Completed: 7 ms rowSize= 562 bytesCONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytesCONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 1.511 KBCONCEPT_RELATIONSHIPS gt=17 ms Completed: 17 ms rowSize= 13.907 KBCONCEPT_GENES gt=6 ms Completed: 6 ms rowSize= 11.853 KBCONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.146 KBCONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes- Reload Stats
|
Genes (5)
Species: human : 5 | |
Human | SDHD | 6392 | succinate dehydrogenase complex, subunit D, integral membrane protein | Hereditary glomus tumour (MIM 168,000) or paraganglioma (PGL) is a slowly progressive disorder causing benign tumour growth predominantly in the head and neck region. BACKGROUND: The group of susceptibility genes for pheochromocytoma that included the proto-oncogene RET (associated with multiple endocrine neoplasia type 2 [MEN-2]) and the tumor-suppressor gene VHL (associated with von Hippel-Lindau disease) now also encompasses the newly identified genes for succinate dehydrogenase subunit D (SDHD) and succinate dehydrogenase subunit B (SDHB), which predispose carriers to pheochromocytomas and glomus tumors. (18)F-DOPA PET seems to be a highly sensitive metabolic imaging procedure for the detection of glomus tumours and may have potential as a screening method for glomus tumours in patients with SDHD gene mutations. Familial paragangliomas (PGL), or glomus tumors, are slow-growing, highly vascular, generally benign neoplasms usually of the head and neck that arise from neural crest cells. Hereditary paragangliomas (PGL, glomus tumors, MIM no.168000) are mostly benign, slow-growing tumors of the head and neck region. (18)F-DOPA PET and magnetic resonance imaging (MRI) were performed in ten consecutive patients with proven mutations of the succinate dehydrogenase subunit D ( SDHD) gene predisposing to the development of glomus tumours and other paragangliomas. Hereditary nonchromaffin paragangliomas (PGL; glomus tumors; MIM 168000) are mostly benign, slow-growing tumors of the head and neck region, inherited from carrier fathers in an autosomal dominant fashion subject to genomic imprinting. | Human | PROS1 | 5627 | protein S (alpha) | We describe 10 patients with cerebral venous thrombosis: two had protein S deficiency, one had protein C deficiency, one was in early pregnancy, and there was a single case of each of the following: dural arteriovenous malformation, intracerebral arteriovenous malformation, bilateral glomus tumours, systemic lupus erythematosus, Wegener;s granulomatosis, non-Hodgkin;s lymphoma. | Human | NME1 | 4830 | NME/NM23 nucleoside diphosphate kinase 1 | METHODS: Nineteen specimens (10 jugulotympanic and 9 carotid glomus tumors) were investigated by quantitative DNA measurements and immunohistochemical assessment of proliferation markers (PCNA, Ki67), oncogenes (p53, nm23), different cell surface antigenes (CD44 4/5 and 6, CD54, CD106), and bcl 2 as a marker for apoptosis. METHODS: Nineteen specimens (10 jugulotympanic and 9 carotid glomus tumors) were investigated by quantitative DNA measurements and immunohistochemical assessment of proliferation markers (PCNA, Ki67), oncogenes (p53, nm23), different cell surface antigenes (CD44 4/5 and 6, CD54, CD106), and bcl 2 as a marker for apoptosis. | Human | CD68 | 968 | CD68 molecule | Twenty-three cases of glomus tumour were investigated with the antibodies keratin, vimentin, neurofilaments, desmin, actin, S100, Factor VIII-related antigen, substance P and KP1/CD68. | Human | ACTC1 | 70 | actin, alpha, cardiac muscle 1 | In all cases the glomus tumor cells stained positively for smooth muscle actin. |
|