Biomaterial Database

[Genetic basis of endocrine-metabolic diseases]. 1999

D Taruscio, and A Olivieri

Laboratorio di Ultrastrutture, Istituto Superiore di Sanità, Roma.

Endocrine-metabolic diseases are very important because of either the variety of affected organs and the great social impact of at least some conditions, due to their high incidence and morbidity in the general population. A multifactorial origin has been recognized in many endocrine-metabolic diseases; in fact genetic and environmental risk factors contribute to the expression of pathologic phenotype. Recent progresses in molecular genetics allowed development of specific genetic tests which improved diagnosis of monogenic diseases and ascertainment of genetic susceptibility for some multifactorial pathologies. Therefore, management of the most important endocrine-metabolic diseases should take into account the interaction between improvement of the diagnosis and primary prevention actions through modification of environmental and lifestyle-related risk factors.

UI	MeSH Term	Description	Entries
D008659	Metabolic Diseases	Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)	Thesaurismosis,Diseases, Metabolic,Disease, Metabolic,Metabolic Disease,Thesaurismoses
D009377	Multiple Endocrine Neoplasia	A group of autosomal dominant diseases characterized by the combined occurrence of tumors involving two or more ENDOCRINE GLANDS that secrete PEPTIDE HORMONES or AMINES. These neoplasias are often benign but can be malignant. They are classified by the endocrine glands involved and the degree of aggressiveness. The two major forms are MEN1 and MEN2 with gene mutations on CHROMOSOME 11 and CHROMOSOME 10, respectively.	Adenomatosis, Familial Endocrine,Endocrine Neoplasia, Multiple,Multiple Endocrine Neoplasia Syndrome,Neoplasia, Multiple Endocrine,Neoplasms, Multiple Endocrine,Adenomatosis, Multiple Endocrine,Familial Endocrine Adenomatosis,Multiple Endocrine Adenomatosis,Multiple Endocrine Adenopathy,Multiple Endocrine Neoplasia Syndromes,Multiple Endocrine Neoplasms,Adenomatoses, Familial Endocrine,Adenomatoses, Multiple Endocrine,Adenopathies, Multiple Endocrine,Adenopathy, Multiple Endocrine,Endocrine Adenomatoses, Familial,Endocrine Adenomatoses, Multiple,Endocrine Adenomatosis, Familial,Endocrine Adenomatosis, Multiple,Endocrine Adenopathies, Multiple,Endocrine Adenopathy, Multiple,Endocrine Neoplasms, Multiple,Familial Endocrine Adenomatoses,Multiple Endocrine Adenomatoses,Multiple Endocrine Adenopathies
D003920	Diabetes Mellitus	A heterogeneous group of disorders characterized by HYPERGLYCEMIA and GLUCOSE INTOLERANCE.
D004700	Endocrine System Diseases	Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES.	Endocrine Diseases,Diseases of Endocrine System,Disease, Endocrine,Disease, Endocrine System,Diseases, Endocrine,Diseases, Endocrine System,Endocrine Disease,Endocrine System Disease,System Disease, Endocrine,System Diseases, Endocrine
D005820	Genetic Testing	Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing.	Genetic Predisposition Testing,Genetic Screening,Predictive Genetic Testing,Predictive Testing, Genetic,Testing, Genetic Predisposition,Genetic Predictive Testing,Genetic Screenings,Genetic Testing, Predictive,Predisposition Testing, Genetic,Screening, Genetic,Screenings, Genetic,Testing, Genetic,Testing, Genetic Predictive,Testing, Predictive Genetic
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D013959	Thyroid Diseases	Pathological processes involving the THYROID GLAND.	Disease, Thyroid,Diseases, Thyroid,Thyroid Disease
D013967	Thyroiditis, Autoimmune	Inflammatory disease of the THYROID GLAND due to autoimmune responses leading to lymphocytic infiltration of the gland. It is characterized by the presence of circulating thyroid antigen-specific T-CELLS and thyroid AUTOANTIBODIES. The clinical signs can range from HYPOTHYROIDISM to THYROTOXICOSIS depending on the type of autoimmune thyroiditis.	Autoimmune Thyroiditis,Thyroiditis, Lymphocytic,Thyroiditis, Lymphomatous,Autoimmune Thyroiditides,Lymphocytic Thyroiditides,Lymphocytic Thyroiditis,Lymphomatous Thyroiditides,Lymphomatous Thyroiditis,Thyroiditides, Autoimmune,Thyroiditides, Lymphocytic,Thyroiditides, Lymphomatous