Kosmix
One sec... we're building your guide for
Cholesteryl Ester Storage Disease
Cholesteryl ester storage disease
Overview
Main ›
Genetic Information ›
Images ›
News & Blogs ›
Guides & Articles ›
Reference ›
Related in the Kosmos
?
Rare diseases
(18)
GM1 gangliosidoses
Tay-sachs disease, ab variant
GM2 gangliosidoses
Farber disease
Gangliosidoses
Gangliosidoses
Multiple sulfatase deficiency
Wolman disease
Sarcosinemia
Kanzaki disease
Sandhoff disease
Lipid storage disorder
Carnitine palmitoylt- ransferase I deficiency
Fabry's disease
Neuronal ceroid lipofuscinosis
Aspartylgl- ucosaminuria
Carnitine acylcarnitine translocase deficiency
Metachromatic leukodystrophy
Krabbe disease
more...
Hepatology
Glycogen storage disease type iii
Carnitine palmitoylt- ransferase I deficiency
Lysosomal storage diseases
(39)
Batten disease
Lysosomal disease
Mucolipidosis I
Pseudo-Hurler polydystrophy
Alpha-mannosidosis
Alpha-mannosidosis
Aspartylgl- ucosaminuria
Canavan disease
Cystinosis
Fabry's disease
Farber disease
GM1 gangliosidoses
GM2 gangliosidoses
Galactosialidosis
Gangliosidoses
Gaucher's disease
Glycogen storage disease type II
Glycoproteinosis
Hunter syndrome
Hurler syndrome
I-cell disease
Kanzaki disease
Krabbe disease
Lipid storage disorder
Metachromatic leukodystrophy
Morquio syndrome
Mucolipidosis
Mucolipidosis type IV
Mucopolysa- ccharidosis
Multiple sulfatase deficiency
Neuronal ceroid lipofuscinosis
Niemann-Pick disease, type C
Niemann–Pick disease
Pycnodysostosis
Salla disease
Sandhoff disease
Sanfilippo syndrome
Sly syndrome
Tay-Sachs disease
Wolman disease
more...
Inborn errors of metabolism
(106)
3 methylcrotonyl-coa carboxylase deficiency
Acatalasia
Acid lipase deficiency
Carbamoyl phosphate synthetase I deficiency
Essential fructosuria
Essential fructosuria
Galactose-- 1-phosphate uridylyltransferase galactosemia
Glutaric acidemia type 1
Histidinemia
Lecithin cholesterol acyltransferase deficiency
Lipid storage disorders
N-acetylglutamate synthase deficiency
2,4 Dienoyl-CoA reductase deficiency
2-Methylbutyryl-CoA dehydrogenase deficiency
3-hydroxy-- 3-methylglutaryl-CoA lyase deficiency
3-hydroxya- cyl-coenzyme A dehydrogenase deficiency
Adenosine deaminase deficiency
Adenylosuccinate lyase deficiency
Aldolase A deficiency
Analbuminaemia
Arakawa's syndrome II
Argininemia
Argininosuccinic aciduria
Aspartylgl- ucosaminuria
Beta-ketothiolase deficiency
Carnitine acylcarnitine translocase deficiency
Carnitine palmitoylt- ransferase I deficiency
Carnitine palmitoylt- ransferase II deficiency
Citrullinemia
Congenital disorder of glycosylation
Crigler-Najjar syndrome
D-Glyceric acidemia
DOOR syndrome
Dihydropyrimidine dehydrogenase deficiency
Disaccharidase
Fucosidosis
Fumarase deficiency
Galactosemia
Glucose-galactose malabsorption
Glutaric acidemia type 2
Glycogen storage disease
Glycogen storage disease type I
Glycogen storage disease type II
Glycogen storage disease type V
Glycogen storage disease type iii
Guanidinoacetate methyltransferase deficiency
Hawkinsinuria
Hereditary fructose intolerance
Holocarboxylase synthetase deficiency
Hyperlysinemia
Hypermethioninemia
Hyperprolinemia
Hypervalinemia
Idiosyncrasy
Inborn error of lipid metabolism
Inborn error of metabolism
Isobutyryl-coenzyme A dehydrogenase deficiency
Isovaleric acidemia
Kanzaki disease
Krabbe disease
Lesch–Nyhan syndrome
Lipid storage disorder
Long-chain 3-hydroxya- cyl-coenzyme A dehydrogenase deficiency
Lysinuric protein intolerance
Lysosomal disease
Lysosomal storage diseases
Malonyl-CoA decarboxylase deficiency
Maple syrup urine disease
Medium-chain acyl-coenzyme A dehydrogenase deficiency
Menkes disease
Metab-L
Methylmalonic acidemia
Methylmalonyl-CoA mutase deficiency
Mevalonate kinase deficiency
Mitochondrial trifunctional protein deficiency
Myoadenylate deaminase deficiency
Newborn screening
Niemann-Pick disease, type C
Organic acidemia
Ornithine transcarbamylase deficiency
Ornithine translocase deficiency
Phenylketonuria
Primary carnitine deficiency
Prolidase deficiency
Propionic acidemia
Pyruvate carboxylase deficiency
Pyruvate kinase deficiency
Refsum's disease
Rotor syndrome
Sarcosinemia
Short-chain acyl-coenzyme A dehydrogenase deficiency
Sly syndrome
Smith-Lemli-Opitz syndrome
Succinic semialdehyde dehydrogenase deficiency
Tangier disease
Tetrahydrobiopterin deficiency
Trimethylaminuria
Type I tyrosinemia
Type III tyrosinemia
Tyrosinemia
Tyrosinemia type II
Urea cycle disorder
Urocanic aciduria
Very long-chain acyl-coenzyme A dehydrogenase deficiency
Wolman disease
X-linked ichthyosis
Zellweger syndrome
more...
Genetic disorders
(34)
Cerebrotendineous xanthomatosis
Niemann-Pick disease, SMPD1-associated
Autosomal recessive disorders
Cystathioninuria
Familial hypobetali- poproteinemia
Familial hypobetali- poproteinemia
GM1 gangliosidoses
Tay-sachs disease, ab variant
GM2 gangliosidoses
Farber disease
Gangliosidoses
Multiple sulfatase deficiency
Galactose-- 1-phosphate uridylyltransferase galactosemia
Wolman disease
Glutaric acidemia type 1
N-acetylglutamate synthase deficiency
Essential fructosuria
Acatalasia
Carbamoyl phosphate synthetase I deficiency
Pseudo-Hurler polydystrophy
Sarcosinemia
Kanzaki disease
Lecithin cholesterol acyltransferase deficiency
Sandhoff disease
Lipid storage disorder
Carnitine palmitoylt- ransferase I deficiency
Fabry's disease
3 methylcrotonyl-coa carboxylase deficiency
Glycogen storage disease type iii
Aspartylgl- ucosaminuria
Batten disease
Carnitine acylcarnitine translocase deficiency
Histidinemia
Metachromatic leukodystrophy
Krabbe disease
more...
Medical condition
(27)
Jansky-bielschowsky disease
Sea-blue histiocyte syndrome
Sphingolipidoses
Pentosuria
Lipoprotein lipase deficiency
Lipoprotein lipase deficiency
Amyloidosis, familial
Cerebrotendineous xanthomatosis
Farber disease
Galactose-- 1-phosphate uridylyltransferase galactosemia
Wolman disease
Mucolipidosis I
Essential fructosuria
Acatalasia
Carbamoyl phosphate synthetase I deficiency
Sarcosinemia
Kanzaki disease
Sandhoff disease
Fabry's disease
Neuronal ceroid lipofuscinosis
Familial hypobetali- poproteinemia
Aspartylgl- ucosaminuria
Batten disease
Lysosomal storage diseases
Carnitine acylcarnitine translocase deficiency
Histidinemia
Metachromatic leukodystrophy
Krabbe disease
more...
Diseases and disorders
(18)
Fructose bisphosphatase deficiency
Disorders of calcium metabolism
Cerebrotendineous xanthomatosis
GM1 gangliosidoses
GM2 gangliosidoses
GM2 gangliosidoses
Farber disease
Gangliosidoses
Multiple sulfatase deficiency
Wolman disease
Mucolipidosis I
Lecithin cholesterol acyltransferase deficiency
Sandhoff disease
Lipid storage disorder
Fabry's disease
Lipoprotein lipase deficiency
Neuronal ceroid lipofuscinosis
Metachromatic leukodystrophy
Krabbe disease
more...
Metabolic disorders
(59)
Sucrose intolerance
Activated protein C resistance
Adenosine deaminase deficiency
Albinism
Alcohol flush reaction
Alcohol flush reaction
Antithrombin III deficiency
Baker IDI Heart and Diabetes Institute
Blue diaper syndrome
Childhood obesity
Congenital disorder of glycosylation
Congenital hyperinsulinism
Crigler-Najjar syndrome
Diagnostic fast
Disaccharidase
Disorders of calcium metabolism
Ectopic calcification
Farber disease
Fructose malabsorption
GM1 gangliosidoses
GM2 gangliosidoses
Galactosemia
Galactosemic cataract
Gangliosidoses
Gaucher's disease
Glycogen storage disease type 0
Hereditary fructose intolerance
Homocystinuria
Hyperglycemia
Hyperinsulinemic hypoglycemia
Hyperinsulinism
Hypoglycemia
Inborn errors of metabolism
Kanzaki disease
Ketotic hypoglycemia
Krabbe disease
Lactose intolerance
Lipid storage disorders
List of causes of hypoglycemia
Metab-L
Methemoglobinemia
Neuronal ceroid lipofuscinosis
Niemann-Pick disease, type C
Niemann–Pick disease
Obesity
Pickardt syndrome
Pycnodysostosis
Refeeding syndrome
Richner Hanhart syndrome
Rotor syndrome
Salicylate sensitivity
Selfish Brain Theory
Sitosterolemia
Stress hyperglycemia
Tay-Sachs disease
Triosephosphate isomerase deficiency
Urbach–Wiethe disease
Urea cycle disorder
Winchester syndrome
Wolman disease
more...
Lipid disorders
(15)
Hyperchole- sterolemia, familial
Hypocholesterolemia
Blood lipids
Cholesterol
Cholesterol Depletion
Cholesterol Depletion
Combined hyperlipidemia
High-density lipoprotein
Hyperchole- sterolemia
Hyperlipidemia
Hypertrigl- yceridemia
Lipoprotein lipase deficiency
Lipoprotein(a)
Low-density lipoprotein
Mevalonate inhibition
Triglyceride
more...
Hydrolases
Human pancreatic lipase
Endothelial lipase
Beta-hexosaminidase A
Alpha/beta hydrolase fold
Ubiquitin carboxy-terminal hydrolase L1
Autosomal recessive disorders
(249)
17-beta-hy- droxysteroid dehydrogenase deficiency
2-Hydroxyglutaric aciduria
3 methylcrotonyl-coa carboxylase deficiency
Abdallat Davis Farrage syndrome
Abderhalde- n-Kaufmann-Lignac syndrome
Abderhalde- n-Kaufmann-Lignac syndrome
Ablepharon macrostomia syndrome
Acatalasia
Aceruloplasminemia
Acheiropodia
Acrocallosal syndrome
Acrodermatitis enteropathica
Acute fatty liver of pregnancy
Adducted thumb syndrome
Adenine phosphorib- osyltransferase deficiency
Adenosine deaminase deficiency
Adenylosuccinate lyase deficiency
Aicardi-Goutieres syndrome
Aldolase A deficiency
Alkaptonuria
Alpha-mannosidosis
Antley-Bixler syndrome
Argininemia
Argininosuccinic aciduria
Arterial tortuosity syndrome
Aspartylgl- ucosaminuria
Atelosteogenesis, type II
Atransferrinemia
Bare lymphocyte syndrome
Batten disease
Behr's syndrome
Bernard-Soulier syndrome
Beta-ketothiolase deficiency
Beta-mannosidosis
Bietti's crystalline dystrophy
Biotinidase deficiency
Bloom syndrome
Blue diaper syndrome
CAMFAK syndrome
Canavan disease
Carbamoyl phosphate synthetase I deficiency
Carnitine acylcarnitine translocase deficiency
Carnitine palmitoylt- ransferase I deficiency
Carnitine palmitoylt- ransferase II deficiency
Carnosinemia
Carpenter syndrome
Cartilage–hair hypoplasia
Cenani Lenz syndactylism
Cerebrotendineous xanthomatosis
Chediak–Higashi syndrome
Chondrodystrophy
Chorea acanthocytosis
Citrullinemia
Cockayne syndrome
Compound heterozygosity
Congenital adrenal hyperplasia
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Congenital hepatic fibrosis
Congenital ichthyosiform erythroderma
Congenital insensitivity to pain with anhidrosis
Craniodiaphyseal dysplasia
Cystathioninuria
Cystic fibrosis
Cystinosis
Cystinuria
D-Glyceric acidemia
DOOR syndrome
Diastrophic dysplasia
Dihydropyrimidine dehydrogenase deficiency
Donohue syndrome
Dubin-Johnson syndrome
Dubowitz syndrome
EAST syndrome
EEM syndrome
Ellis-van Creveld syndrome
Essential fructosuria
Ethylmalonic encephalopathy
Familial Mediterranean fever
Familial dysautonomia
Familial hypobetali- poproteinemia
Familial isolated vitamin E deficiency
Fanconi anemia
Farber disease
Fibrochondrogenesis
Finnish heritage disease
Fountain syndrome
Friedreich's ataxia
Fucosidosis
Fumarase deficiency
Galactokinase deficiency
Galactose epimerase deficiency
Galactose-- 1-phosphate uridylyltransferase galactosemia
Galloway Mowat syndrome
Gangliosidoses
Gastroschisis
Gaucher's disease
Gerodermia osteodysplastica
Giant axonal neuropathy
Gitelman syndrome
Glanzmann's thrombasthenia
Glucose-galactose malabsorption
Glutaric acidemia type 1
Glutaric acidemia type 2
Glutathione synthetase deficiency
Glycogen storage disease type I
Glycogen storage disease type II
Glycogen storage disease type V
Glycogen storage disease type iii
Griscelli syndrome
Guanidinoacetate methyltransferase deficiency
Gunther disease
Hartnup disease
Hemophagocytic lymphohistiocytosis
Hereditary pyropoikilocytosis
Hermansky–Pudlak syndrome
Histidinemia
Holocarboxylase synthetase deficiency
Homocystinuria
Hurler syndrome
Hyperlysinemia
Hypermethioninemia
Hyperprolinemia
Hypertryptophanemia
Hypervalinemia
ICF syndrome
Ichthyosis lamellaris
Iminoglycinuria
Impossible syndrome
Infantile free sialic acid storage disease
Infantile neuroaxonal dystrophy
Isobutyryl-coenzyme A dehydrogenase deficiency
Isovaleric acidemia
Jervell and Lange-Nielsen syndrome
Johanson-Blizzard syndrome
Juvenile Primary Lateral Sclerosis
Kaufman oculocerebrofacial syndrome
Keutel syndrome
Kindler syndrome
Krabbe disease
Lafora disease
Laron syndrome
Lecithin cholesterol acyltransferase deficiency
Leukocyte adhesion deficiency
Lipid storage disorder
Lipoid congenital adrenal hyperplasia
Long-chain 3-hydroxya- cyl-coenzyme A dehydrogenase deficiency
Lucey-Driscoll syndrome
Lysinuric protein intolerance
Malonyl-CoA decarboxylase deficiency
Maple syrup urine disease
Meckel syndrome
Medium-chain acyl-coenzyme A dehydrogenase deficiency
Meleda disease
Metachromatic leukodystrophy
Methemoglobinemia
Methylmalonic acidemia
Mevalonate kinase deficiency
Micro syndrome
Microvillous inclusion disease
Mitochondrial trifunctional protein deficiency
Morquio syndrome
Mucolipidosis
Mucolipidosis type IV
Mucopolysa- ccharidosis
Multiple sulfatase deficiency
N-acetylglutamate synthase deficiency
Nemaline myopathy
Nephronophthisis
Netherton syndrome
Neuronal ceroid lipofuscinosis
Nezelof syndrome
Niemann-Pick disease, type C
Niemann–Pick disease
Ochronosis
Oculodentodigital syndrome
Oguchi disease
Omenn syndrome
Ornithine translocase deficiency
Orotic aciduria
Otospondyl- omegaepiphyseal dysplasia
Papillon–Lefèvre syndrome
Pendred syndrome
Persistent Mullerian duct syndrome
Phenylketonuria
Phosphofructokinase deficiency
Primary carnitine deficiency
Primary ciliary dyskinesia
Progressive external ophthalmoplegia
Prolidase deficiency
Propionic acidemia
Pseudodominance
Pseudoxanthoma elasticum
Purine nucleoside phosphorylase deficiency
Pycnodysostosis
Pyruvate carboxylase deficiency
Rabson-Mendenhall syndrome
Raine syndrome
Rapadilino syndrome
Recessive multiple epiphyseal dysplasia
Renal dysplasia-limb defects syndrome
Renal-hepa- tic-pancreatic dysplasia
Reproductive compensation
Restrictive dermopathy
Richner Hanhart syndrome
Rothmund–Thomson syndrome
Rotor syndrome
Sabinas brittle hair syndrome
Saccharopinuria
Salla disease
Sandhoff disease
Sanfilippo syndrome
Sarcosinemia
Short-chain acyl-coenzyme A dehydrogenase deficiency
Shwachman-Diamond syndrome
Sickle cell trait
Sickle-cell disease
Situs inversus
Sly syndrome
Smith-Lemli-Opitz syndrome
Succinic semialdehyde dehydrogenase deficiency
Sugarman syndrome
Survival motor neuron spinal muscular atrophy
Tangier disease
Tay-Sachs disease
Tay-sachs disease, ab variant
Tetrahydrobiopterin deficiency
Thalassemia
Trimethylaminuria
Triosephosphate isomerase deficiency
Type I tyrosinemia
Type III tyrosinemia
Tyrosinemia
Tyrosinemia type II
Urbach–Wiethe disease
Urocanic aciduria
Usher syndrome
Vaso-occlusive crisis
Very long-chain acyl-coenzyme A dehydrogenase deficiency
Vici syndrome
Weissenbac- her-Zweymüller syndrome
Werner syndrome
Wilson's disease
Wolcott-Rallison syndrome
Wolman disease
Woodhouse-Sakati syndrome
Xeroderma pigmentosum
Yunis-Varon syndrome
ZAP70 deficiency
Zazam Sheriff Phillips syndrome
Zunich–Kaye syndrome
more...
See also
(16)
Mixed disorder of acid-base balance
Lysosomal lipase
Ashkenazi Jews topics
Glycolipid
Leukoencephalopathy with vanishing white matter
Leukoencephalopathy with vanishing white matter
Sphingolipids
Gastric lipase
GM2 (ganglioside)
Colipase
Triglyceride lipase
Hepatic lipase
CESD
Cholesteryl ester transfer protein
Ceramide
Journal of Inherited Metabolic Disease
Cholesteryl ester
more...
more categories...
Health Providers & Organizations
›
Vitals.com
