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Genes (10)
Species: human : 9 mouse : 1 | |
Mouse | PRKAR1A | 5573 | protein kinase, cAMP-dependent, regulatory, type I, alpha | METHODS AND RESULTS: A transgenic mouse carrying an antisense transgene for Prkar1a exon 2 (X2AS) under the control of a tetracycline responsive promoter (the Tg(Prkar1a*x2as)1Stra, Tg(tTAhCMV)3Uh or tTA/X2AS line) developed thyroid follicular hyperplasia and adenomas, adrenocortical hyperplasia and other features reminiscent of PPNAD, including late onset weight gain, visceral adiposity, and non-dexamethasone suppressible hypercorticosteronaemia, with histiocytic, epithelial hyperplasias, lymphomas, and other mesenchymal tumours. | Human | PDE11A | 50940 | phosphodiesterase 11A | PDE11A sequence defects predispose to a variety of lesions (beyond micronodular adrenocortical hyperplasia) | Human | PRKAR1A | 5573 | protein kinase, cAMP-dependent, regulatory, type I, alpha | DNA analysis of the coding sequences of the PRKAR1A gene (associated with PPNAD and Carney complex) and the GNAS gene (associated with McCune-Albright syndrome) showed no mutations.We conclude that hypercortisolemia in infancy may be caused by micronodular adrenocortical hyperplasia, which can be cyclical and confused with exogenous Cushing syndrome. | Human | LRP1 | 4035 | low density lipoprotein receptor-related protein 1 | A study was made of the activity of plasma renin (APR), and the blood levels of ACTH, 17-hydroxyprogesterone (17-OHP) and aldosterone (A) in 50 children suffering from congenital adrenocortical hyperplasia as a result of 21-hydroxylase deficiency; 38 girls and 12 boys aged 1.5 mos. to 14 years were divided into 2 groups: (1) 35 with a salt losing type of disease; (2) 15 with a common virile type of disease. | Human | INHA | 3623 | inhibin, alpha | To study the role of inhibins in human adrenal gland, we screened a panel of 150 adrenals (10 normal adrenals, 25 adrenocortical hyperplasias, 65 adrenocortical adenomas, 30 adrenocortical carcinomas and 20 phaeochromocytomas) for inhibin alpha expression. | Human | FH | 2271 | fumarate hydratase | In a patient with HLRCC caused by a germline-inactivating FH mutation, we diagnosed atypical (subclinical) CS due to bilateral, ACTH-independent adrenocortical hyperplasia. | Human | CYP21A2 | 1589 | cytochrome P450, family 21, subfamily A, polypeptide 2 | In order to survey the enzymic activities of steroidogenesis in functioning adrenocortical tumors, we investigated the activities of steroid 21-hydroxylase and 17 alpha-hydroxylase in microsomal fractions of 12 surgically resected adrenocortical tumors associated with Cushing;s syndrome (5 adenomas and one carcinoma), primary aldosteronism (5 adenomas) and adrenogenital syndrome (AGS) (one carcinoma), and one adrenocortical hyperplasia resulting from Cushing;s disease. In order to survey the enzymic activities of steroidogenesis in functioning adrenocortical tumors, we investigated the activities of steroid 21-hydroxylase and 17 alpha-hydroxylase in microsomal fractions of 12 surgically resected adrenocortical tumors associated with Cushing;s syndrome (5 adenomas and one carcinoma), primary aldosteronism (5 adenomas) and adrenogenital syndrome (AGS) (one carcinoma), and one adrenocortical hyperplasia resulting from Cushing;s disease. | Human | CYP11B1 | 1584 | cytochrome P450, family 11, subfamily B, polypeptide 1 | Immunoreactivity to P450scc, P450c21, and P450c11 was observed in both clear and compact cortical cells, with compact cells displaying more intense staining, as reported in Cushing;s adenoma and ACTH dependent bilateral adrenocortical hyperplasia. | Human | CYP11A1 | 1583 | cytochrome P450, family 11, subfamily A, polypeptide 1 | Immunoreactivity to P450scc, P450c21, and P450c11 was observed in both clear and compact cortical cells, with compact cells displaying more intense staining, as reported in Cushing;s adenoma and ACTH dependent bilateral adrenocortical hyperplasia. | Human | CNC | 1257 | Carney complex, multiple neoplasia and lentiginosis | We have studied primary pigmented adrenocortical disease (PPNAD), a benign, bilateral, adrenocortical hyperplasia, which either in its isolated form or as part of Carney complex (CNC), is inherited in an autosomal dominant manner and, therefore, the gene(s) responsible for this disorder could be identified by positional cloning approaches. |
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