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Cystinosis
Cystinosis
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Lysosomal storage diseases
(39)
Batten disease
Cholesteryl ester storage disease
Farber disease
Lysosomal storage disease
Pseudo-Hurler polydystrophy
Pseudo-Hurler polydystrophy
Salla disease
Alpha-mannosidosis
Aspartylgl- ucosaminuria
Canavan disease
Fabry disease
GM1 gangliosidoses
GM2 gangliosidoses
Galactosialidosis
Gangliosidosis
Gaucher's disease
Glycogen storage disease type II
Glycoproteinosis
Hunter syndrome
Hurler syndrome
I-cell 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
Sandhoff disease
Sanfilippo syndrome
Schindler disease
Sialidosis
Sly syndrome
Tay-Sachs disease
Wolman disease
more...
Autosomal recessive disorders
(19)
Abderhalde- n-Kaufmann-Lignac syndrome
Cerebrotendinous xanthomatosis
Carbamoyl phosphate synthetase I deficiency
Cystathioninuria
Cystinuria
Cystinuria
Hartnup disease
N-acetylglutamate synthase deficiency
Sarcosinemia
Glutaric acidemia type 1
Tyrosinemia
Cartilage hair hypoplasia
Alkaptonuria
Hyperprolinemia
Cockayne syndrome
Hermansky-Pudlak syndrome
Wilson disease
Farber disease
Salla disease
Batten disease
more...
Genetic disorders
(30)
Costello syndrome
Inherited disorder
Galactosemia
Coffin-lowry syndrome
Cleidocranial dysplasia
Cleidocranial dysplasia
Crigler-najjar syndrome
Fructose intolerance
Cornelia de Lange syndrome
Alport syndrome
Abderhalde- n-Kaufmann-Lignac syndrome
Cerebrotendinous xanthomatosis
Carbamoyl phosphate synthetase I deficiency
Cystathioninuria
Cholesteryl ester storage disease
Cystinuria
Hartnup disease
Pseudo-Hurler polydystrophy
Farber disease
N-acetylglutamate synthase deficiency
Sarcosinemia
Glutaric acidemia type 1
Tyrosinemia
Salla disease
Cartilage hair hypoplasia
Alkaptonuria
Hyperprolinemia
Cockayne syndrome
Hermansky-Pudlak syndrome
Batten disease
Wilson disease
more...
Medical condition
(38)
Cystinosis ocular nonnephropathic
Chromosome 5p- syndrome
Hypophosphatemic rickets
Aminoaciduria
Oculocerebrorenal syndrome
Oculocerebrorenal syndrome
Proteinuria
Pentosuria
Osteomalacia
Cowden syndrome
Metabolic disorder
Acidosis
Pyelonephritis
Renal tubular acidosis
Non-alcoholic steatohepatitis
Chronic kidney disease
Glycogen storage disease
Cerebrotendinous xanthomatosis
Carbamoyl phosphate synthetase I deficiency
Cholesteryl ester storage disease
Cystinuria
Hartnup disease
Farber disease
Costello syndrome
Sarcosinemia
Tyrosinemia
Galactosemia
Coffin-lowry syndrome
Salla disease
Cleidocranial dysplasia
Alkaptonuria
Hyperprolinemia
Fructose intolerance
Cornelia de Lange syndrome
Cockayne syndrome
Alport syndrome
Hermansky-Pudlak syndrome
Batten disease
Wilson disease
more...
Thiols
Cysteamine
Cysteine
Penicillamine
Kidney diseases
De Toni-Fanconi Syndrome
Hyperphosphaturia
Abderhalde- n-Kaufmann-Lignac syndrome
Aminoaciduria
Renal tubular acidosis
Chronic kidney disease
Alport syndrome
Inborn errors of metabolism
(107)
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
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
Fructose intolerance
Fucosidosis
Fumarase deficiency
Galactose-- 1-phosphate uridylyltransferase galactosemia
Galactosemia
Glucose-galactose malabsorption
Glutaric acidemia type 1
Glutaric acidemia type 2
Glycogen storage disease
Glycogen storage disease type I
Glycogen storage disease type II
Glycogen storage disease type III
Glycogen storage disease type V
Guanidinoacetate methyltransferase deficiency
Hawkinsinuria
Histidinemia
Holocarboxylase synthetase deficiency
Hyperlysinemia
Hypermethioninemia
Hyperprolinemia
Hypervalinemia
Idiosyncrasy
Inborn error of lipid metabolism
Isobutyryl-coenzyme A dehydrogenase deficiency
Isovaleric acidemia
Krabbe disease
Lecithin cholesterol acyltransferase deficiency
Lesch–Nyhan syndrome
Lipid storage disorder
Lipid storage disorders
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
Metabolic disorder
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
Refsum's disease
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
more...
Symptoms
Growth failure
Polydipsia
Poor growth
Excessive urination
Photophobia
Fanconi syndrome
Polyuria
See also
(20)
Diseases and disorders
CTNS (gene)
Cystine
Lysosomes
Renal tubular
Renal tubular
Lignac
University of California at San Diego School of Medicine
Iminoglycinuria
Solute carrier family
Cystamine
Antignac, Haute-Garonne
Autosomal recessive
Polyuria
Renal transplantation
Chromosome 17
Proximal tubular
Cidofovir
Thoene
Glomerular
March of Dimes Birth Defects Foundation
more...
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