| CDH | ceramide dihexoside; congenital diaphragmatic hernia; congenital dislocation of hip; congenital dysp... |
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| CER | capital expenditure review; ceramide; conditioned emotional response; control electrical rhythm; cor... |
| CTH | ceramide trihexoside; chronic tension headache; cystathionase |
| CER | Ceramide |
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| CMH | Ceramide monohexoside |
| GalCer | Galactosyl ceramide |
| CGalt | UDP-galactose-ceramide galactosyl transferase |
| CGT | UDP-galactose:ceramide galactosyl transferase |
| ceramide lactoside lipidosis | An inherited disorder associated with an accumulation of ceramide lactoside due to a deficiency of ceramide lactosidase; results in progressive brain damage with liver and spleen enlargement. (05 Mar 2000) |
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| ceramide lactoside | A lactosylceramide that accumulates in individuals with ceremide lactoside liposis. Compare: cytolipin. (05 Mar 2000) |
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| ganglioside lipidosis | Any disease characterised, in part, by the abnormal accumulation within the nervous system of specific gangliosides, e.g., GM2 gangliosidosis, Tay-Sachs disease, caused by hexosaminidase A enzyme deficiency with accumulation of GM2 ganglioside Synonym: gangliosialidosis, ganglioside lipidosis. (05 Mar 2000) |
| glycolipid lipidosis | <disease> Lysosomal storage disease caused by a deficiency of alpha-galactosidase a and resulting in an accumulation of globotriaosylceramide in the renal and cardiovascular systems. The disease is characterised by telangiectatic skin lesions, renal failure, and disturbances of the cardiovascular, gastrointestinal, and central nervous systems. Inheritance: x-linked. (08 Mar 2000) |
| cerebral lipidosis | Any one of a group of inherited diseases characterised by failure to thrive, hypertonicity, progressive spastic paralysis, loss of vision and occurrence of blindness, usually with macular degeneration and optic atrophy, convulsions, and mental deterioration; associated with abnormal storage of sphingomyelin and related lipids in the brain. Four types are recognised as clinically and enzymatically distinct: 1) infantile type (Tay-Sachs disease, GM2 gangliosidosis) due to a deficiency of hexosaminidase A; 2) early juvenile type (Jansky-Bielschowsky or Bielschowsky's disease); 3) late juvenile type (Spielmeyer-Vogt disease; Spielmeyer-Sjogren disease; Batten-Mayou disease; ceroid lipofuscinosis); and 4) adult type (Kufs disease). Synonym: cerebral lipidosis. (05 Mar 2000) |
| cerebroside lipidosis | <disease> A chronic congenital disease of lipid metabolism caused by a deficiency of the beta-glucocerebrosidase enzyme. The defect is most common in Ashkenazi Jews. Clinical features are hepatosplenomegaly (enlargement of liver and spleen) and in severe early onset forms of the disease, with neurological dysfunction. Inheritance: autosomal recessive. (27 Sep 1997) |
| sphingomyelin lipidosis | <disease> A family of severe lysosomal storage diseases resulting in an accumulation of sphingomyelin and other phospholipids in the reticuloendothelial system. The best studied forms are due to deficiency of sphingomyelinase and it is more common in Ashkenazi Jews than other groups. Clinical signs include foam cells in the blood and marrow, hepatosplenomegaly and neurologic degeneration. Diagnosis is confirmed by enzyme assay on leukocytes or fibroblasts and specific mutations in the gene are now recognised. (29 Dec 1997) |
| sulfatide lipidosis | <radiology> Dysmyelinating disease, autosomal recessive, aryl sulfatase A -- absent from urine and serum, most present by 2 yrs, die at 3-4 yrs, may arise at any age, CT: decreased density of white matter, primarily in centrum semiovale, with or without focal gall bladder defects (!) (12 Dec 1998) |
| lipidosis | Hereditary abnormality of lipid metabolism that results in abnormal amounts of lipid deposition; classification is typically based on the responsible enzymatic deficiency and type of lipid involved. Such enzymatic activity takes place in the lysosomes, and the abnormal products appear as lysosomal storage diseases. Sphingolipidoses make up the largest portion of recognised lipidoses, including abnormal metabolism of gangliosides, ceramides, and cerebrosides. Origin: Lipid + G. -osis, condition (05 Mar 2000) |
| ceramide | <chemical> An N acyl sphingosine, the lipid moiety of glycosphingolipids. (18 Nov 1997) |
| ceramide 1-phosphorylcholine | <biochemistry> A sphingolipid in which the head group is phosphoryl choline. A close analogue of phosphatidylcholine. In many cells the concentration of sphingomyelin and phosphatidylcholine in the plasma membrane seems to bear a reciprocal relationship. (18 Nov 1997) |
| ceramide-activated protein kinase | <enzyme> Mw 97 kD; stimulation of kinase takes place during sphingomyelin pathway; has membrane-bound activity capable of phosphorylating a peptide derived from the sequence surrounding thr(699) of the epidermal growth factor receptor; has role in signal transduction for tumour necrosis factor Registry number: EC 2.7.10.- Synonym: cap kinase (26 Jun 1999) |
| ceramide-activated protein phosphatase | <enzyme> Belongs to the heterotrimeric subfamily of the pp2a group of serine-threonine protein phosphatases; involved in ceramide-mediated signal transduction; inhibited by okadaic acid Registry number: EC 3.1.3.- Synonym: ceramide-stimulated phosphatase, capp (enzyme) (26 Jun 1999) |
| ceramide cholinephosphotransferase | <enzyme> Do not confuse with phosphatidylcholine-ceramide phosphotransferase which is also called sphingomyelin synthase Registry number: EC 2.7.8.3 Synonym: sphingomyelin synthetase, phosphorylcholine-ceramide transferase, cdpcholine-n-acylsphingosine cholinephosphotransferase (26 Jun 1999) |
| ceramide dihexoside | The accumulated glycolipid noted in glycolipid lipidosis. (05 Mar 2000) |
| ceramide glycanase | <enzyme> Glycosphingolipid splitting enzyme from leech; cleaves linkage between oligosaccharide and ceramide Registry number: EC 3.2.1.- Synonym: cer glycanase (26 Jun 1999) |
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