| CEP | Congenital Erythropoetic Porphyria(= Gnther Disease; 선천성 조혈기성 Porphyria |
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| CGD | Chronic Granulomatous Disease; 만성 육아종 질환 |
| CHARGE Associations | Coloboma Heart disease Atresia choanae Reta... |
| CHD | 1) Congenital Heart Disease 2) Common Hepatic Duct |
| CID | 1) Carpal Instability Dissociative; 해리성 주근관절 불안정성 2) Cytomegalic Inclusio... |
| glycogen storage disease | <hepatology> A group of inherited metabolic disorders involving the enzymes responsible for the synthesis and degradation of glycogen. In some patients, prominent liver involvement is presented. In others, more generalised storage of glycogen occurs, sometimes with prominent cardiac involvement. Synonym: glycogenosis (12 Sep 2002) |
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| 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) |
| 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) |
| von Economo's disease | A unique encephalitis, presumably viral in origin, which followed the influenza pandemic of 1914-1918. Symptoms included ophthalmoplegia and marked somnolence, and in many survivors, the delayed development of Parkinson's disease; the basis for postencephalitic Parkinsonism. Synonym: encephalitis lethargica, polioencephalitis infectiva. (05 Mar 2000) |
| Von Gierke's disease | <disease> A congenital disease caused by a metabolic error in which the body deposits an abnormally high amount of glycogen in the kidneys and liver, the disease produces symptoms such as hypoglycaemia (low blood sugar) and hyperlipaemia (an excess of lipid molecules in the blood, which can lead to problems such as clogged arteries and heart attacks). (09 Oct 1997) |
| von hippel-lindau disease | <disease> A congenital disease characterised by the development of blood vesse ltumours in the retina of the eye and in the brain, lesions and cysts canalso develop in the spina lcord, pancreas, kidneys, and other organs. (09 Oct 1997) |
| pelvic imflammatory disease | <disease> The inflammation of any of the female pelvic organs, usually due to infection from a sexually transmitted disease. PID can result in sterility if left untreated. (09 Oct 1997) |
| pelvic inflammatory disease | <disease> An inflammatory process that results from other pelvic diseases, may result from gonorrhoea, chlamydia, ovarian cystic disease or postpartum infections. (27 Sep 1997) |
| von Meyenburg's disease | A degenerative disease of cartilage producing a bizarre form of arthritis, with collapse of the ears, the cartilaginous portion of the nose, and the tracheobronchial tree; death may occur from chronic infection or suffocation because of loss of stability in the tracheobronchial tree of autosomal origin. Synonym: chronic atrophic polychondritis, generalised chondromalacia, Meyenburg's disease, Meyenburg-Altherr-Uehlinger syndrome, relapsing perichondritis, systemic chondromalacia, von Meyenburg's disease. (05 Mar 2000) |