Weber-Cocayne syndrome
Weinrich et Emmerson
| medullary cystic disease | <disease> A rare hereditary kidney disease characterised by the gradual loss of kidney function due to the presence of cysts in the renal medulla. Symptoms include high urine output (cannot concentrate the urine), weakness, weight loss, nocturia, fatigue and headache. There is no cure and usually progresses from chronic renal failure to end stage renal disease. (27 Sep 1997) |
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| medullary cystic kidney disease | <radiology> Mode of inheritance uncertain, usually affects young adults (early 20s), associated with red or blond hair (!!), causes salt wasting, polyuria, azotaemia, affects both kidneys, with progressive disease patients need dialysis or transplant (12 Dec 1998) |
| central Recklinghausen's disease type II | type 1 neurofibromatosis |
| Centres for Disease Control | The federal facility for disease eradication, epidemiology, and education headquartered in Atlanta, Georgia, which encompasses the Centre for Infectious Diseases, Centre for Environmental Health, Centre for Health Promotion and Education, Centre for Prevention Services, Centre for Professional Development and Training, and Centre for Occupational Safety and Health. Formerly named Centre for Disease Control (1970), Communicable Disease Centre (1946). (05 Mar 2000) |
| centres for disease control and prevention | See: CDC. (12 Dec 1998) |
| Voltolini's disease | Disease of the labyrinth, leading to deafmutism, in young children. (05 Mar 2000) |
| Pel-Ebstein disease | The remittent fever common in Hodgkin's disease. Synonym: Pel-Ebstein disease. (05 Mar 2000) |
| Pelizaeus-Merzbacher disease | A sudanophilic leukodystrophy with a tigroid appearance of the myelin resulting from patchy demyelination. Type 1-classic, nystagmus and tremor appearing in the first few months of life, followed by slow motor development sometimes with choreoathetosis, spasticity, optic atrophy and seizures, with death in early adulthood, X-linked recessive inheritance; type 2-contralateral form with death in months to years after birth, X-linked recessive inheritance; type 3-transitional, with death in the first decade; type 4-adult form associated with involuntary movements, ataxia and hyperreflexia, but without nystagmus; type 5-variant forms. Cockayne is sometimes included as a sixth form. Synonym: Merzbacher-Pelizaeus disease. (05 Mar 2000) |
| Pellegrini's disease | A calcific density in the medial collateral ligament and/or bony growth at the internal condyle of the femur. Synonym: Pellegrini-Stieda disease. (05 Mar 2000) |
| Pellegrini-Stieda disease | A calcific density in the medial collateral ligament and/or bony growth at the internal condyle of the femur. Synonym: Pellegrini-Stieda disease. (05 Mar 2000) |
| 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) |
| 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) |