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Batten Disease
Batten disease
Overview
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Related in the Kosmos
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Neurological disorders
(11)
Neuronal ceroid lipofuscinosis
Machado-joseph disease
Neurodegenerative disorder
Lambert-Eaton myasthenic syndrome
CIDP
CIDP
Olivoponto- cerebellar atrophy
Wolman disease
Shy-drager syndrome
Titubation
Corticobasal degeneration
Spinocerebellar ataxia
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Lysosomal storage diseases
(39)
Aspartylgl- ucosaminuria
Canavan disease
Cholesteryl ester storage disease
Cystinosis
Farber disease
Farber disease
GM1 gangliosidoses
Gangliosidoses
Gangliosidoses gm2
Gaucher disease
Krabbe disease
Lysosomal storage disease
Metachromatic leukodystrophy
Mucolipidosis I
Multiple sulfatase deficiency
Niemann Pick disease
Pseudo-Hurler polydystrophy
Sandhoff disease
Schindler disease
Tay sachs
Alpha-mannosidosis
Fabry disease
Galactosialidosis
Glycogen storage disease type II
Glycoproteinosis
Hunter syndrome
Hurler syndrome
I-cell disease
Lipid storage disorder
Morquio syndrome
Mucolipidosis
Mucolipidosis type IV
Mucopolysa- ccharidosis
Neuronal ceroid lipofuscinosis
Niemann-Pick disease, type C
Pycnodysostosis
Salla disease
Sanfilippo syndrome
Sly syndrome
Wolman disease
more...
Autosomal recessive disorders
(21)
Benign paroxysmal peritonitis
Cerebrotendineous xanthomatosis
Tay-sachs disease, ab variant
Essential fructosuria
Galactose-- 1-phosphate uridylyltransferase galactosemia
Galactose-- 1-phosphate uridylyltransferase galactosemia
Carbamoyl phosphate synthetase I deficiency
Sarcosinemia
Neuronal ceroid lipofuscinosis
Niemann Pick disease
Krabbe disease
Metachromatic leukodystrophy
Farber disease
Gangliosidoses
Tay sachs
Multiple sulfatase deficiency
Wolman disease
Aspartylgl- ucosaminuria
Sandhoff disease
Gaucher disease
Canavan disease
Cystinosis
more...
Genetic disorders
(36)
Niemann-Pick disease, SMPD1-associated
Bourneville-Pringle syndrome
Curschmann- -Batten-Steinert syndrome
Congenital myopathy
Cri du chat syndrome
Cri du chat syndrome
Smith-Magenis syndrome
Bardet Biedl Syndrome
Adrenoleuk- odystrophy
Benign paroxysmal peritonitis
Cerebrotendineous xanthomatosis
GM1 gangliosidoses
Machado-joseph disease
Niemann Pick disease
Krabbe disease
Metachromatic leukodystrophy
Tay-sachs disease, ab variant
Farber disease
Cholesteryl ester storage disease
Gangliosidoses gm2
Gangliosidoses
Tay sachs
Multiple sulfatase deficiency
Autosomal recessive disorders
Wolman disease
Aspartylgl- ucosaminuria
Sandhoff disease
Essential fructosuria
Pseudo-Hurler polydystrophy
Galactose-- 1-phosphate uridylyltransferase galactosemia
Gaucher disease
Carbamoyl phosphate synthetase I deficiency
Canavan disease
Cystinosis
Schindler disease
Spinocerebellar ataxia
Sarcosinemia
more...
Medical condition
(54)
Blount disease
Jansky-bielschowsky disease
Parry's disease
Sea-blue histiocyte syndrome
Menkes disease
Menkes disease
FSGS
Minimal change disease
Kufs disease
Ceroid lipofuscinosis neuronal 3 juvenile
Choroiditis
Brueghel syndrome
Sphingolipidoses
Brandt syndrome
Intestinal pseudoobstruction chronic idiopathic
Lymphangio- leiomyomatosis
Chromosome 4 partial trisomy distal 4q
Fibrodysplasia ossificans progressiva
Benign glycosuria
Bowen syndrome
Chromosome 3 trisomy 3q2
Chromosome 7 partial monosomy 7p
Neuronal ceroid lipofuscinosis
Benign paroxysmal peritonitis
Cerebrotendineous xanthomatosis
Machado-joseph disease
Krabbe disease
Metachromatic leukodystrophy
Farber disease
Cholesteryl ester storage disease
Lysosomal storage diseases
Bourneville-Pringle syndrome
Lambert-Eaton myasthenic syndrome
Mucolipidosis I
Curschmann- -Batten-Steinert syndrome
CIDP
Tay sachs
Congenital myopathy
Cri du chat syndrome
Olivoponto- cerebellar atrophy
Wolman disease
Aspartylgl- ucosaminuria
Sandhoff disease
Essential fructosuria
Shy-drager syndrome
Galactose-- 1-phosphate uridylyltransferase galactosemia
Titubation
Gaucher disease
Carbamoyl phosphate synthetase I deficiency
Bardet Biedl Syndrome
Canavan disease
Cystinosis
Schindler disease
Corticobasal degeneration
Sarcosinemia
more...
Diseases and disorders
(20)
Santavuori-Haltia disease
Leukoencephalopathy with neuroaxonal spheroids
Fructose bisphosphatase deficiency
Rare diseases
Neurological disorders
Neurological disorders
Neuronal ceroid lipofuscinosis
Cerebrotendineous xanthomatosis
GM1 gangliosidoses
Niemann Pick disease
Krabbe disease
Metachromatic leukodystrophy
Farber disease
Gangliosidoses gm2
Mucolipidosis I
Gangliosidoses
Tay sachs
Multiple sulfatase deficiency
Wolman disease
Sandhoff disease
Benign glycosuria
more...
Metabolic disorders
(59)
Lipid storage disorders
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
Galactosemia
Galactosemic cataract
Gangliosidoses
Gangliosidoses gm2
Gaucher disease
Glycogen storage disease type 0
Hereditary fructose intolerance
Homocystinuria
Hyperglycemia
Hyperinsulinemic hypoglycemia
Hyperinsulinism
Hypoglycemia
Inborn errors of metabolism
Ketotic hypoglycemia
Krabbe disease
Lactose intolerance
List of causes of hypoglycemia
Metab-L
Methemoglobinemia
Neuronal ceroid lipofuscinosis
Niemann Pick disease
Niemann-Pick disease, type C
Obesity
Pickardt syndrome
Pycnodysostosis
Refeeding syndrome
Richner Hanhart syndrome
Rotor syndrome
Salicylate sensitivity
Schindler disease
Selfish Brain Theory
Sitosterolemia
Stress hyperglycemia
Sucrose intolerance
Tay sachs
Triosephosphate isomerase deficiency
Urbach–Wiethe disease
Urea cycle disorder
Winchester syndrome
Wolman disease
more...
Leukodystrophies
Adrenoleuk- odystrophy
Alexander disease
Canavan disease
Krabbe disease
Metachromatic leukodystrophy
Pelizaeus-- Merzbacher disease
Zellweger 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
Fucosidosis
Fumarase deficiency
Galactose-- 1-phosphate uridylyltransferase galactosemia
Galactosemia
Glucose-galactose malabsorption
Glutaric acidemia type 2
Glutaric aciduria type 1
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
Hereditary fructose intolerance
Histidinemia
Holocarboxylase synthetase deficiency
Hyperlysinemia
Hypermethioninemia
Hyperprolinemia
Hypervalinemia
Idiosyncrasy
Inborn error of lipid metabolism
Inborn error of 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
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...
See also
(20)
Bioaccumulants
Lanthanum carbonate
Max Bielschowsky
NCLS
Biological magnification
Biological magnification
CLN3
Sevelamer
CNS vasculitis
Valganciclovir
Ceroid
Myfortic
CLN6
RSGS
Stemcells
Jansky
Rare Disease Day
Ganciclovir
White count
Paraneoplastic syndromes
Serpiginous
more...
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