| type I familial hyperlipoproteinaemia | Hyperlipoproteinaemia characterised by the presence of large amounts of chylomicrons and triglycerides in the plasma when the patient has a normal diet, and their disappearance on a fat-free diet; low alpha-and beta-lipoproteins on a normal diet, with increase on fat-free diet; decreased plasma postheparin lipolytic activity; and low tissue lipoprotein lipase activity. It is accompanied by bouts of abdominal pain, hepatosplenomegaly, pancreatitis, and eruptive xanthomas; autosomal recessive inheritance. See: familial lipoprotein lipase inhibitor. Synonym: Burger-Grutz syndrome, familial fat-induced hyperlipaemia, familial hyperchylomicronaemia, familial hypertriglyceridemia, idiopathic hyperlipaemia. (05 Mar 2000) |
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| type I H/S mucopolysaccharidosis | <syndrome> Although clinically distinct diseases, fibroblasts from patients with Hurler syndrome and with Scheie syndrome do not cross complement in culture, suggesting that the enzyme defect is the same. (18 Nov 1997) |
| type I hyperlipoproteinaemia | <biochemistry> An rare inherited disorder where there is a deficiency of an enzyme (lipoprotein lipase) which breaks down fat molecules, causing the accumulation of fats or lipoproteins in the blood. Symptoms in infancy include abdominal pain (appears as if its colic), failure to thrive and skin lesions (xanthomas). Origin: Gr. Haima = blood (27 Sep 1997) |
| type I interferon | <chemical> Interferon secreted by leukocytes, fibroblasts, or lymphoblasts in response to viruses or interferon inducers other than mitogens, antigens, or allo-antigens. They include alpha- and beta-interferons (interferon-alpha and interferon-beta). Pharmacological action: antineoplastic agent, antiviral agents. (12 Dec 1998) |
| type I mortality | <epidemiology> A mortality schedule in which all hosts are assumed to live for a fixed number of years equal to the life expectancy. (05 Dec 1998) |
| type IH mucopolysaccharidosis | <syndrome> Mucopolysaccharidosis in which there is a deficiency of alpha-l-iduronidase, an accumulation of an abnormal intracellular material, and excretion of dermatan sulfate and heparan sulfate in the urine; with severe abnormality in development of skeletal cartilage and bone, with dwarfism, kyphosis, deformed limbs, limitation of joint motion, spadelike hand, corneal clouding, hepatosplenomegaly, mental retardation, and gargoyle-like facies; autosomal recessive inheritance. See: mucolipidosis. Synonym: dysostosis multiplex, Hurler's disease, lipochondrodystrophy, Pfaundler-Hurler syndrome, type IH mucopolysaccharidosis. (05 Mar 2000) |
| type II acrocephalosyndactyly | type II acrocephalosyndactyly |
| type II cells | Cuboidal cell's connected with the squamous pulmonary alveolar cell's and having in their cytoplasm lamellated bodies (cytosomes) that represent the source of the surfactant that coats the alveoli. Synonym: granular pneumonocytes, type II cells. (05 Mar 2000) |
| type II collagen | Collagen unique to cartilage, nucleus pulposis, notochord, and vitreous body; it forms as thin highly glycosylated fibrils. (05 Mar 2000) |
| type II diabetes | <disease> An often mild form of diabetes mellitus of gradual onset, usually in obese individuals over age 35; absolute plasma insulin levels are normal to high, but relatively low in relation to plasma glucose levels; ketoacidosis is rare, but hyperosmolar coma can occur; responds well to dietary regulation and/or oral hypoglycaemic agents, but diabetic complications and degenerative changes can develop. (05 Mar 2000) |
| type II dip | Late deceleration of the foetal heart rate, 30 seconds or more after the height of uterine contraction, as displayed on a foetal monitor graph. (05 Mar 2000) |
| type II error | The statistical error (said to be of the second kind or beta error) made in testing an hypothesis when it is concluded that a treatment or intervention is not effective when it really is. Sometimes referred to as a false negative. (12 Dec 1998) |
| type II familial hyperlipoproteinaemia | Hyperlipoproteinaemia characterised by increased plasma levels of beta-lipoproteins, cholesterol, and phospholipids, but normal triglycerides; heterozygotes have mild lipid changes and are susceptible to atherosclerosis in middle age, but homozygotes have severe changes often with generalised xanthomatosis and xanthelasma, and frank clinical atherosclerosis as young adults. The primary defect is a deficiency of apoprotein of VLDL, and the disorder is divided into two classes: 1) type IIA, which has elevated LDL due to a deficiency of the receptor or a modified apolipoprotein B-100; 2) type IIB, which has elevated LDL and triglycerides; autosomal dominant inheritance. Synonym: familial hyperbetalipoproteinaemia, familial hypercholesteraemic xanthomatosis, familial hypercholesterolaemia. (05 Mar 2000) |
| type II hyperlipoproteinaemia | <biochemistry> A relatively rare (7 out of 1,000) genetic disease in which there is elevation in the blood triglycerides, cholesterol and low density lipoprotein (LDL). Also called type II hyperlipoproteinaemia, familial hyperlipoproteinaemia or familial hypercholesterolaemia. Origin: Gr. Haima = blood (27 Sep 1997) |
| type II interferon | <chemical> The major interferon produced by mitogenically or antigenically stimulated lymphocytes. It is structurally different from type I interferon (interferon type I) and its major activity is immunoregulation. It has been implicated in the expression of class II histocompatibility antigens in cells that do not normally produce them, leading to autoimmune disease. Pharmacological action: antineoplastic agent, antiviral agents. Chemical name: Interferon-gamma (human lymphocyte protein moiety reduced) (12 Dec 1998) |
| glycogen storage disease type I | <disease> An autosomal recessive disease in which gene expression of glucose-6-phosphatase is absent, resulting in hypoglycaemia due to lack of glucose production. Accumulation of glycogen in liver and kidney leads to organomegaly, particularly massive hepatomegaly. Increased concentrations of lactic acid and hyperlipidemia appear in the plasma. Clinical gout often appears in early childhood. Inheritance: autosomal recessive. (12 Dec 1998) |
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| glycogen storage disease type II | <disease> Glycogenosis due to alpha-1,4-glucosidase (acid maltase) deficiency. It affects muscle, heart, and other organs. (12 Dec 1998) |
| glycogen storage disease type III | <disease> An autosomal recessive metabolic disorder due to deficient expression of amylo-1,6-glucosidase (one part of the glycogen debranching enzyme system). The clinical course of the disease is similar to that of glycogen storage disease type I, but milder. Massive hepatomegaly, which is present in young children, diminishes and occasionally disappears with age. Levels of glycogen with short outer branches are elevated in muscle, liver, and erythrocytes. Six subgroups have been identified, with subgroups type IIIa and type IIIb being the most prevalent. Inheritance: autosomal recessive (12 Dec 1998) |
| glycogen storage disease type IV | <disease> An autosomal recessive metabolic disorder due to a deficiency in expression of branching enzyme (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal glycogen with long outer branches. Clinical features are muscle hypotonia and cirrhosis. Death from liver disease usually occurs before age 2. Inheritance: autosomal recessive (12 Dec 1998) |
| glycogen storage disease type V | <disease> Glycogenosis due to muscle phosphorylase deficiency. Characterised by painful cramps following sustained exercise. Inheritance: autosomal recessive (12 Dec 1998) |
| glycogen storage disease type VI | <disease> A hepatic glycogen storage disease in which there is an apparent deficiency of hepatic phosphorylase activity. However, studies have not been able to distinguish between phosphorylase deficiency and phosphorylase kinase deficiency in patients with hepatic glycogenosis. (12 Dec 1998) |
| glycogen storage disease type VII | <disease> An autosomal recessive muscle glycogen storage disease in which there is deficient expression of muscle phosphofructokinase activity, resulting in increased concentrations of glucose-6-phosphate and fructose-6-phosphate and low concentrations of fructose-1,6-diphosphate in muscle tissue. Glycogen storage in muscle is increased, perhaps due to activation of glycogen synthase by accumulated glucose-6-phosphate. It has been proposed that shunting of glucose-6-phosphate and fructose-6-phosphate into the pentose phosphate pathway may result in increased synthesis of purines and pyrimidines, causing hyperuricaemia and gout. Erythrocytes from patients may show decreased phosphofructokinase activity and 2,3-diphosphoglycerate deficiency. Exercise intolerance is present and severe congenital muscular dystrophy has been reported. Inheritance: autosomal recessive (12 Dec 1998) |
| glycogen storage disease type VIII | <disease> An x-linked recessive hepatic glycogen storage disease resulting from lack of expression of phosphorylase-b-kinase activity. Symptoms are relatively mild; hepatomegaly, increased liver glycogen, and decreased leukocyte phosphorylase are present. Liver shrinkage occurs in response to glucagon. Inheritance: X-linked recessive (12 Dec 1998) |
| V-type ATPase | <enzyme> From eukaryotic endomembrane systems, including vacuoles, lysosomes, golgi apparatus, chromaffin granules and coated vesicles. One of three major classes of ion transport ATPase, characterised by a multi subunit structure and a lack of a phosphorylated intermediate. Found in archaebacteria but not eubacteria, in the intracellular acidic vacuoles and in some proton pumping epithelia (e.g. Intercalated cells of kidney). A complex enzyme encoded by several genes, involved in ion translocation but does not act via phosphorylated enzyme intermediate See: P-type ATPase. Registry number: EC 3.6.1.- Synonym: atpase, v-type, atpase, vacuolar, vacuolar atpase, v-atpase, vacuolar h+-atpase, vacuolar membrane h(+)-atpase, vha55 gene product, vma16 gene product (26 Jun 1999) |
| Gm type | <immunology> Genetically determined allotypic antigens found on IgG of some individuals. (18 Nov 1997) |
| Golgi type II neuron | <physiology> Nerve cells with short axons which ramify in the gray matter. (05 Mar 2000) |
| Golgi type I neuron | <physiology> Nerve cells whose long axons leave the gray matter of which they form a part. (05 Mar 2000) |
| membrane-type 3 matrix metalloproteinase | <enzyme> Sm3 is a soluble form of mt3-mmp, probably an alternatively sliced variant. Registry number: EC 3.4.24.- Synonym: mt3-mmp, sm3-mmp (26 Jun 1999) |
| membrane-type 4 matrix metalloproteinase | <enzyme> Cloned from breast carcinoma. Registry number: EC 3.4.24.- Synonym: mt4-mmp, mmp-17 gene product, mmp-17 (26 Jun 1999) |
| membrane-type matrix metalloproteinase | <enzyme> Activates gelatinase a; isolated from a human placenta cdna gene library; contains a transmembrane domain; do not use for any other numbered matrix metalloproteinases; genbank d26512 Registry number: EC 3.4.24.- Synonym: mt-mmp, mmp-x1 protein, matrix metalloproteinase, membrane-type, mmp14 gene product, mmp-14 gene product, mt1-mmp, matrix metalloproteinase 14, mt2-mmp, mmp15 gene product, mmp16 gene product (26 Jun 1999) |