Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0406810 (NAME)
 13,345 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Familial pituitary adenomas occurr in the classical syndromes of MEN1 and Carney Complex as well as in Familial Isolated Pituitary Adenomas (FIPA), an autosomal dominant disease with incomplete penetrance. In some families and also rarely in sporadic tumours germline mutations of a gene located on chromosome 11q13 known as the aryl hydrocarbon receptor interacting protein have been found. This article discusses the AIP mutations in these groups and the different molecular interactions of AIP that may play a role in pituitary tumour formation.
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PMID:AIP gene and familial isolated pituitary adenomas. 2045 15

According to autopsy and radiological data, pituitary adenomas (PAs) develop in approximately 15% to 20% of the population. The great majority of PAs arise sporadically and affect adults. Rarely they are diagnosed in children and adolescents. Approximately 5% of cases are thought to be familial. Inherited conditions associated with pituitary tumors include multiple endocrine neoplasia type 1 (MEN-1) and type 4 (MEN-4), (CNC) Carney Complex, and familial isolated PA (FIPA) syndrome. FIPA is an autosomal dominant condition, defined by the presence of two or more patients affected by PAs in the same kindred, and no other associated condition. Germline mutations of the aryl hydrocarbon receptor interacting protein gene located on chromosome 11q13 have been reported in 15%-40% of FIPA cases. In the remaining cases, genetic defect are unidentified. This article focuses on FIPA clinical, pathological, genetic features, and therapeutic management.
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PMID:Familial isolated pituitary adenomas: from genetics to therapy. 2134 57