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Storage Disease
Storage disease
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Lysosomal storage diseases
(40)
Batten disease
Cholesteryl ester storage disease
Cystine storage disease
Fabry disease
GM1 gangliosidoses
GM1 gangliosidoses
Gangliosidosis
Gaucher disease
Globoid cell leukodystrophy
Glycogen storage disease type ii
Lipid storage disease
Lysosomal storage disease
Metachromatic leukodystrophy
Morquio
Mucolipidosis
Mucolipidosis type IV
Mucopolysa- ccharidosis
Neuronal ceroid lipofuscinosis
Niemann Pick disease
Sandhoff disease
Sanfilippo syndrome
Sialic acid storage disease
Tay Sachs disease
Alpha-mannosidosis
Aspartylgl- ucosaminuria
Canavan disease
Farber disease
GM2 gangliosidoses
Galactosialidosis
Glycoproteinosis
Hunter syndrome
Hurler syndrome
I-cell disease
Multiple sulfatase deficiency
Niemann-Pick disease, type C
Pseudo-Hurler polydystrophy
Pycnodysostosis
Schindler disease
Sialidosis
Sly syndrome
Wolman disease
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Inborn errors of metabolism
(106)
Fucosidosis
Glucose-6-- phosphatase deficiency
Glycogen storage disease
Glycogen storage disease type iii
Glycogen storage disease type v
Glycogen storage disease type v
Lipid storage disorders
Phytanic acid storage disease
2,4 Dienoyl-CoA reductase deficiency
2-Methylbutyryl-CoA dehydrogenase deficiency
3-Methylcr- otonyl-CoA carboxylase deficiency
3-hydroxy-- 3-methylglutaryl-CoA lyase deficiency
3-hydroxya- cyl-coenzyme A dehydrogenase deficiency
Acatalasia
Acid lipase disease
Adenosine deaminase deficiency
Adenylosuccinate lyase deficiency
Aldolase A deficiency
Analbuminaemia
Arakawa's syndrome II
Argininemia
Argininosuccinic aciduria
Aspartylgl- ucosaminuria
Beta-ketothiolase deficiency
Carbamoyl phosphate synthetase I deficiency
Carnitine palmitoylt- ransferase I deficiency
Carnitine palmitoylt- ransferase II deficiency
Carnitine-- acylcarnitine translocase deficiency
Cholesteryl ester storage disease
Citrullinemia
Congenital disorder of glycosylation
Crigler-Najjar syndrome
D-Glyceric acidemia
DOOR syndrome
Dihydropyrimidine dehydrogenase deficiency
Disaccharidase
Essential fructosuria
Fumarase deficiency
Galactose-- 1-phosphate uridylyltransferase galactosemia
Galactosemia
Globoid cell leukodystrophy
Glucose-galactose malabsorption
Glutaric acidemia type 2
Glutaric aciduria type 1
Glycogen storage disease type ii
Guanidinoacetate methyltransferase deficiency
Hawkinsinuria
Hereditary fructose intolerance
Histidinemia
Holocarboxylase synthetase deficiency
Hyperlysinemia
Hypermethioninemia
Hyperprolinemia
Hypervalinemia
Idiosyncrasy
Inborn error of lipid metabolism
Isobutyryl-coenzyme A dehydrogenase deficiency
Isovaleric acidemia
Lecithin cholesterol acyltransferase deficiency
Lesch–Nyhan syndrome
Lipid storage disease
Long-chain 3-hydroxya- cyl-coenzyme A dehydrogenase deficiency
Lysinuric protein intolerance
Lysosomal storage 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
N-Acetylglutamate synthase 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
Rotor syndrome
Sarcosinemia
Schindler disease
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
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Pediatrics
Inborn errors of metabolism
Glycogen storage disease type iii
Diseases and disorders
(55)
Copper storage disease
Andersen disease
Glycogen storage disease type vii
Neutral lipid storage disease
Gonadotropin deficiency
Gonadotropin deficiency
Gyrate atrophy
Mesangial proliferative glomerulonephritis
Ileocolitis
Mammary dysplasia
Gluten enteropathy
Subdural hemorrhage
Post-streptococcal glomerulonephritis
Glossopharyngeal neuralgia
Glucose 6 phosphate dehydrogenase deficiency
Membranopr- oliferative glomerulonephritis
Sturge-Web- er-Dimitri syndrome
Gonococcal
Glomerulonephritis, membranopr- oliferative
Systolic click-murmur syndrome
Supranuclear ophthalmoplegia
Streptobacillary fever
Granulomatous
Goodpastures Syndrome
Thrombasthenia
Bacteremia
Myoglobinuria
Alport syndrome
Cerebrotendineous xanthomatosis
Barth syndrome
Hermansky-Pudlak syndrome
Glycogen storage disease
Glycogen storage disease type ii
Lysosomal storage diseases
Cholesteryl ester storage disease
Phytanic acid storage disease
Lipid storage disease
Sialic acid storage disease
Globoid cell leukodystrophy
Cystine storage disease
Fucosidosis
Mucolipidosis
Niemann Pick disease
Gaucher disease
Sandhoff disease
Gangliosidosis
Mucopolysa- ccharidosis
Metachromatic leukodystrophy
Morquio
Fabry disease
Batten disease
Neuronal ceroid lipofuscinosis
Tay Sachs disease
Sanfilippo syndrome
Mucolipidosis type IV
GM1 gangliosidoses
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Hepatology
(12)
Glycogen synthase deficiency
Hepatosplenomegaly
Glycogen
Hepatomegaly
Glycogen storage disease
Glycogen storage disease
Copper storage disease
Glycogen storage disease type ii
Glucose-6-- phosphatase deficiency
Andersen disease
Cholesteryl ester storage disease
Glycogen storage disease type iii
Gaucher disease
more...
Metabolic disorders
(60)
Activated protein C resistance
Adenosine deaminase deficiency
Albinism
Alcohol flush reaction
Antithrombin III deficiency
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
Gangliosidosis
Gaucher disease
Globoid cell leukodystrophy
Glycogen synthase deficiency
Hereditary fructose intolerance
Homocystinuria
Hyperglycemia
Hyperinsulinemic hypoglycemia
Hyperinsulinism
Hypoglycemia
Inborn errors of metabolism
Ketotic hypoglycemia
Lactose intolerance
Lipid storage disorders
List of causes of hypoglycemia
Metab-L
Methemoglobinemia
Neuronal ceroid lipofuscinosis
Niemann Pick disease
Niemann-Pick disease, type C
Obesity
Obesogen
Pickardt syndrome
Pycnodysostosis
Refeeding syndrome
Richner Hanhart syndrome
Rotor syndrome
Salicylate sensitivity
Schindler disease
Selfish Brain Theory
Sitosterolemia
Stress hyperglycemia
Sucrose intolerance
Tay Sachs disease
Triosephosphate isomerase deficiency
Urbach–Wiethe disease
Urea cycle disorder
Winchester syndrome
Wolman disease
more...
Neurological disorders
Aicardi syndrome
Leukodystrophies
Copper storage disease
Batten disease
Neuronal ceroid lipofuscinosis
Nutrition disorder
Hers' Disease
Granulomatous thyroiditis
Andersen disease
Glycogen synthase deficiency
EC 2.4.1
Glucuronyl transferase
Phosphorylase
Myophosphorylase
Glycogen phosphorylase
Glycogen debranching enzyme
Leukodystrophies
Adrenoleuk- odystrophy
Alexander disease
Canavan disease
Globoid cell leukodystrophy
Metachromatic leukodystrophy
Pelizaeus-- Merzbacher disease
Zellweger syndrome
Carbohydrates
Glucocerebroside
Glucosidase
Glycolipid
Glycogen
Autosomal recessive disorders
(251)
Tay-sachs disease, ab variant
17-beta-hy- droxysteroid dehydrogenase deficiency
2-Hydroxyglutaric aciduria
3-Methylcr- otonyl-CoA carboxylase deficiency
Abdallat Davis Farrage syndrome
Abdallat Davis Farrage syndrome
Abderhalde- n-Kaufmann-Lignac syndrome
Abetalipop- roteinemia
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 palmitoylt- ransferase I deficiency
Carnitine palmitoylt- ransferase II deficiency
Carnitine-- acylcarnitine translocase 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
Copper storage disease
Craniodiaphyseal dysplasia
Cystathioninuria
Cystic fibrosis
Cystine storage disease
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 isolated vitamin E deficiency
Fanconi anemia
Farber disease
Fibrochondrogenesis
Finnish heritage disease
Fountain syndrome
Fraser syndrome
Friedreich's ataxia
Fucosidosis
Fumarase deficiency
Galactokinase deficiency
Galactose epimerase deficiency
Galactose-- 1-phosphate uridylyltransferase galactosemia
Galloway Mowat syndrome
Gangliosidosis
Gastroschisis
Gaucher disease
Gerodermia osteodysplastica
Giant axonal neuropathy
Gitelman syndrome
Globoid cell leukodystrophy
Glucose-6-- phosphatase deficiency
Glucose-galactose malabsorption
Glutaric acidemia type 2
Glutaric aciduria type 1
Glutathione synthetase deficiency
Glycogen storage disease type ii
Glycogen storage disease type iii
Glycogen storage disease type v
Glycogen storage disease type vii
Griscelli syndrome
Guanidinoacetate methyltransferase deficiency
Gunther disease
Harlequin type ichthyosis
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
Lafora disease
Laron syndrome
Lecithin cholesterol acyltransferase deficiency
Leukocyte adhesion deficiency
Lipid storage disease
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
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
Niemann-Pick disease, type C
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
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
Sandhoff disease
Sanfilippo syndrome
Sarcosinemia
Short-chain acyl-coenzyme A dehydrogenase deficiency
Shwachman-Diamond syndrome
Sialic acid storage disease
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
Tetrahydrobiopterin deficiency
Thalassemia
Thrombasthenia
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
Wolcott-Rallison syndrome
Wolman disease
Woodhouse-Sakati syndrome
Xeroderma pigmentosum
Yunis-Varon syndrome
ZAP70 deficiency
Zazam Sheriff Phillips syndrome
Zunich–Kaye syndrome
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To cholesterol
(8)
7-Dehydroc- holesterol
CHILD syndrome
Conradi–Hünermann syndrome
Desmosterol
Desmosterolosis
Desmosterolosis
Hydrops-ectopic calcificat- ion-moth-eaten skeletal dysplasia
Lathosterolosis
Smith-Lemli-Opitz syndrome
more...
Common amyloid forming proteins
Amylin
Amyloid precursor protein
Bence Jones protein
Beta amyloid
Beta-2 microglobulin
Serum amyloid A
Transthyretin
Systemic amyloidosis
AA amyloidosis
AL amyloidosis
Finnish type amyloidosis
Haemodialy- sis-associated amyloidosis
Senile systemic amyloidosis
Familial Mediterranean fever
Hyperlipidemia
Combined hyperlipidemia
Familial hyperchole- sterolemia
Hyperchole- sterolemia
Hypertrigl- yceridemia
Lipoprotein lipase deficiency
Xanthoma
See also
(20)
Genetic disorders
Enzymes
Subacute combined degeneration
Major depression with psychotic features
Vitus
Vitus
Glucose 6-phosphatase
Tarui
Glossitis
Lysosomal
Glomerulonephritis, membranous
Phytanic acid
Syphilitic aneurysm
Subacute lymphocytic thyroiditis
Enzyme replacement therapy
Maxillofacial injury
Subcutaneous air
Medial collateral ligament
Hyper IgM Syndrome Type 1
Type VII
Autosomal recessive
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