Biomaterial Database

Hormone-nuclear receptor interactions in health and disease. Vitamin D resistance. 1994

M Hewison, and J L O'Riordan

Department of Medicine, University College London Medical School, Middlesex Hospital, UK.

Tissue resistance to vitamin D, or vitamin D-dependent rickets (VDDR), can be classified as two separate conditions--VDDR type I and VDDR type II--both of which present with the classical clinical, radiological and biochemical features of rickets despite adequate vitamin D intake. VDDR II can also be associated with alopecia, for reasons that are not clear. The two syndromes result from distinct disorders of vitamin D metabolism or action. Both are inherited in an autosomal recessive fashion. VDDR I is caused by decreased production of the active form of vitamin D, 1,25-dihydroxycholecalciferol, with the proposed defect being in the gene encoding the enzyme 1 alpha-hydroxylase. VDDR II results from mutations in the gene for the intracellular receptor for 1,25-dihydroxycholecalciferol (vitamin D receptor), resulting in changes in hormone or DNA binding, depending on the mutation. These mutations are analogous to those affecting receptors for other steroid-thyroid hormones, which have also been shown to cause resistance to hormone action.

UI	MeSH Term	Description	Entries
D007015	Hypophosphatemia, Familial	An inherited condition of abnormally low serum levels of PHOSPHATES (below 1 mg/liter) which can occur in a number of genetic diseases with defective reabsorption of inorganic phosphorus by the PROXIMAL RENAL TUBULES. This leads to phosphaturia, HYPOPHOSPHATEMIA, and disturbances of cellular and organ functions such as those in X-LINKED HYPOPHOSPHATEMIC RICKETS; OSTEOMALACIA; and FANCONI SYNDROME.	Diabetes, Phosphate,Familial Hypophosphatemia,Hyperphosphaturia,Phosphate Diabetes,Phosphaturia,Familial Hypophosphatemias,Hypophosphatemias, Familial
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
D004351	Drug Resistance	Diminished or failed response of an organism, disease or tissue to the intended effectiveness of a chemical or drug. It should be differentiated from DRUG TOLERANCE which is the progressive diminution of the susceptibility of a human or animal to the effects of a drug, as a result of continued administration.	Resistance, Drug
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D014807	Vitamin D	A vitamin that includes both CHOLECALCIFEROLS and ERGOCALCIFEROLS, which have the common effect of preventing or curing RICKETS in animals. It can also be viewed as a hormone since it can be formed in SKIN by action of ULTRAVIOLET RAYS upon the precursors, 7-dehydrocholesterol and ERGOSTEROL, and acts on VITAMIN D RECEPTORS to regulate CALCIUM in opposition to PARATHYROID HORMONE.
D018167	Receptors, Calcitriol	Proteins, usually found in the cytoplasm, that specifically bind calcitriol, migrate to the nucleus, and regulate transcription of specific segments of DNA with the participation of D receptor interacting proteins (called DRIP). Vitamin D is converted in the liver and kidney to calcitriol and ultimately acts through these receptors.	Calcitriol Receptors,Cholecalciferol Receptors,Receptors, Vitamin D,Vitamin D 3 Receptors,Vitamin D Receptors,1,25-Dihydroxycholecalciferol Receptor,1,25-Dihydroxycholecalciferol Receptors,1,25-Dihydroxyvitamin D 3 Receptor,1,25-Dihydroxyvitamin D3 Receptor,1,25-Dihydroxyvitamin D3 Receptors,Calcitriol Receptor,Receptors, 1,25-Dihydroxyvitamin D 3,Receptors, Cholecalciferol,Receptors, Vitamin D 3,Receptors, Vitamin D3,Vitamin D 3 Receptor,Vitamin D Receptor,Vitamin D3 Receptor,Vitamin D3 Receptors,1,25 Dihydroxycholecalciferol Receptor,1,25 Dihydroxycholecalciferol Receptors,1,25 Dihydroxyvitamin D 3 Receptor,1,25 Dihydroxyvitamin D3 Receptor,1,25 Dihydroxyvitamin D3 Receptors,D Receptor, Vitamin,D Receptors, Vitamin,D3 Receptor, 1,25-Dihydroxyvitamin,D3 Receptor, Vitamin,D3 Receptors, 1,25-Dihydroxyvitamin,D3 Receptors, Vitamin,Receptor, 1,25-Dihydroxycholecalciferol,Receptor, 1,25-Dihydroxyvitamin D3,Receptor, Calcitriol,Receptor, Vitamin D,Receptor, Vitamin D3,Receptors, 1,25-Dihydroxycholecalciferol,Receptors, 1,25-Dihydroxyvitamin D3