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Sandhoff Disease
Sandhoff disease
Overview
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Related in the Kosmos
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Lipid storage disorders
(13)
Fabry's disease
Farber disease
GM1 gangliosidoses
GM2 gangliosidoses
Gangliosidoses
Gangliosidoses
Gaucher disease
Krabbe disease
Multiple sulfatase deficiency
Niemann Pick disease
Schindler disease
Tay Sachs disease
Wolman disease
Niemann-Pick disease, type C
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Lysosomal storage diseases
(39)
Aspartylgl- ucosaminuria
Batten disease
Canavan disease
Cholesteryl ester storage disease
I-cell disease
I-cell disease
Lipid storage disorder
Lysosomal disease
Metachromatic leukodystrophy
Mucolipidosis I
Neuronal ceroid lipofuscinosis
Pseudo-Hurler polydystrophy
Salla disease
Sly syndrome
Alpha-mannosidosis
Cystinosis
Fabry's disease
Farber disease
GM1 gangliosidoses
GM2 gangliosidoses
Galactosialidosis
Gangliosidoses
Gaucher disease
Glycogen storage disease type II
Glycoproteinosis
Hunter syndrome
Hurler syndrome
Krabbe disease
Morquio syndrome
Mucolipidosis
Mucolipidosis type IV
Mucopolysa- ccharidosis
Multiple sulfatase deficiency
Niemann Pick disease
Niemann-Pick disease, type C
Pycnodysostosis
Sanfilippo syndrome
Schindler disease
Tay Sachs disease
Wolman disease
more...
Autosomal recessive disorders
(248)
3 methylcrotonyl-coa carboxylase deficiency
Acatalasia
Carbamoyl phosphate synthetase I deficiency
Cerebrotendineous xanthomatosis
Cystathioninuria
Cystathioninuria
Essential fructosuria
Fucosidosis
Galactose-- 1-phosphate uridylyltransferase galactosemia
Glutaric acidemia type 1
Glycogen storage disease type iii
Histidinemia
Infantile neuroaxonal dystrophy
Lecithin cholesterol acyltransferase deficiency
N-acetylglutamate synthase deficiency
Sarcosinemia
Tay-sachs disease, ab variant
17-beta-hy- droxysteroid dehydrogenase deficiency
2-Hydroxyglutaric aciduria
Abdallat Davis Farrage syndrome
Abderhalde- n-Kaufmann-Lignac syndrome
Abetalipop- roteinemia
Ablepharon macrostomia syndrome
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
Carnitine palmitoylt- ransferase I deficiency
Carnitine palmitoylt- ransferase II deficiency
Carnitine-- acylcarnitine translocase deficiency
Carnosinemia
Carpenter syndrome
Cartilage–hair hypoplasia
Cenani Lenz syndactylism
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
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
Ethylmalonic encephalopathy
Familial Mediterranean fever
Familial dysautonomia
Familial isolated vitamin E deficiency
Fanconi anemia
Farber disease
Fibrochondrogenesis
Finnish heritage disease
Fountain syndrome
Friedreich's ataxia
Fumarase deficiency
Galactokinase deficiency
Galactose epimerase deficiency
Galloway Mowat syndrome
Gangliosidoses
Gastroschisis
Gaucher disease
Gerodermia osteodysplastica
Giant axonal neuropathy
Gitelman syndrome
Glanzmann's thrombasthenia
Glucose-galactose malabsorption
Glutaric acidemia type 2
Glutathione synthetase deficiency
Glycogen storage disease type I
Glycogen storage disease type II
Glycogen storage disease type V
Griscelli syndrome
Guanidinoacetate methyltransferase deficiency
Gunther disease
Hartnup disease
Hemophagocytic lymphohistiocytosis
Hereditary pyropoikilocytosis
Hermansky–Pudlak syndrome
Holocarboxylase synthetase deficiency
Homocystinuria
Hurler syndrome
Hyperlysinemia
Hypermethioninemia
Hyperprolinemia
Hypertryptophanemia
Hypervalinemia
ICF syndrome
Ichthyosis lamellaris
Iminoglycinuria
Impossible syndrome
Infantile free sialic acid storage disease
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
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
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
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
Sanfilippo syndrome
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
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...
Rare diseases
(23)
Alexander disease
GM1 gangliosidoses
GM2 gangliosidoses
Tay-sachs disease, ab variant
Gangliosidoses
Gangliosidoses
Tay Sachs disease
Farber disease
Cholesteryl ester storage disease
Multiple sulfatase deficiency
Wolman disease
Niemann Pick disease
Sarcosinemia
Lipid storage disorder
Schindler disease
Metachromatic leukodystrophy
Aspartylgl- ucosaminuria
Gaucher disease
Fucosidosis
Krabbe disease
Fabry's disease
Salla disease
Sly syndrome
Neuronal ceroid lipofuscinosis
more...
Genetic disorders
(42)
Niemann-Pick disease, SMPD1-associated
Adrenoleuk- odystrophy
ALA dehydratase deficiency
Spinocerebellar atrophy
Cerebrotendineous xanthomatosis
Cerebrotendineous xanthomatosis
GM1 gangliosidoses
GM2 gangliosidoses
Tay-sachs disease, ab variant
Gangliosidoses
Tay Sachs disease
Farber disease
Cholesteryl ester storage disease
Batten disease
Galactose-- 1-phosphate uridylyltransferase galactosemia
Multiple sulfatase deficiency
Glutaric acidemia type 1
Wolman disease
Niemann Pick disease
N-acetylglutamate synthase deficiency
Essential fructosuria
Acatalasia
Carbamoyl phosphate synthetase I deficiency
Pseudo-Hurler polydystrophy
Sarcosinemia
Lipid storage disorder
Schindler disease
Metachromatic leukodystrophy
Aspartylgl- ucosaminuria
Infantile neuroaxonal dystrophy
Gaucher disease
Cystathioninuria
Lecithin cholesterol acyltransferase deficiency
Alexander disease
Fucosidosis
Histidinemia
Krabbe disease
3 methylcrotonyl-coa carboxylase deficiency
Glycogen storage disease type iii
Fabry's disease
Salla disease
Sly syndrome
Canavan disease
more...
Diseases and disorders
(23)
Fructose bisphosphatase deficiency
Disorders of calcium metabolism
Sulfatidosis
Santavuori disease
MPS VI
MPS VI
Klumpke palsy
Cerebrotendineous xanthomatosis
GM1 gangliosidoses
GM2 gangliosidoses
Gangliosidoses
Tay Sachs disease
Farber disease
Mucolipidosis I
Multiple sulfatase deficiency
Wolman disease
Niemann Pick disease
Lipid storage disorder
Metachromatic leukodystrophy
Lecithin cholesterol acyltransferase deficiency
Fucosidosis
Krabbe disease
Fabry's disease
Neuronal ceroid lipofuscinosis
more...
Medical condition
(59)
Sea-blue histiocyte syndrome
Jansky-bielschowsky disease
Sphingolipidoses
Progressive sclerosing poliodystrophy
Brown tendon sheath syndrome
Brown tendon sheath syndrome
Common bile duct cyst
Cranial nerve ix diseases
Cranial nerve vii diseases
Intrauterine cross-transfusion
Melanocytic vestibular schwannoma
Ninth cranial nerve diseases
Parietal region trauma
Piriformin syndrome
Post-traumatic tic disorder
Second cranial nerve diseases
Temporal region trauma
Facial recognition agnosia
Senior health issues sensory agnosia
Somatotropin hypersecretion syndrome
Ocular retraction syndrome
Paraneoplastic autonomic dysfunction
Pentosuria
Esophagopharyngeal diverticulum
Herpetic facial paralysis
Tracheal cyst
Subcortical arteriosclerotic encephalopathy
Heredopathia atactica polyneuritiformis
Steele-Ric- hardson-Olszewski disease
Sao paulo typhus
Choreoacan- thocytosis
Infantile epileptic encephalopathy
Cerebrotendineous xanthomatosis
Tay Sachs disease
Farber disease
Cholesteryl ester storage disease
Batten disease
Mucolipidosis I
Galactose-- 1-phosphate uridylyltransferase galactosemia
Wolman disease
Essential fructosuria
Acatalasia
Carbamoyl phosphate synthetase I deficiency
Sarcosinemia
Schindler disease
Metachromatic leukodystrophy
Aspartylgl- ucosaminuria
Gaucher disease
Lysosomal storage diseases
Sulfatidosis
Alexander disease
Fucosidosis
Histidinemia
Krabbe disease
Fabry's disease
Salla disease
Sly syndrome
Klumpke palsy
Neuronal ceroid lipofuscinosis
Canavan 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 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
Lipid storage disorders
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
Tay Sachs disease
Triosephosphate isomerase deficiency
Urbach–Wiethe disease
Urea cycle disorder
Winchester syndrome
Wolman disease
more...
Neurology
Acquired epileptiform aphasia
Myoclonic Encephalopathy of infants
Tay Sachs disease
Niemann Pick disease
Adrenoleuk- odystrophy
Steele-Ric- hardson-Olszewski disease
Choreoacan- thocytosis
Inborn errors of metabolism
(107)
Acid lipase deficiency
2,4 Dienoyl-CoA reductase deficiency
2-Methylbutyryl-CoA dehydrogenase deficiency
3 methylcrotonyl-coa carboxylase deficiency
3-hydroxy-- 3-methylgl- utaryl-CoA lyase deficiency
3-hydroxy-- 3-methylglutaryl-CoA lyase deficiency
3-hydroxya- cyl-coenzyme A dehydrogenase deficiency
Acatalasia
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 1
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
Heredopathia atactica polyneuritiformis
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 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
more...
See also
(17)
GM2 (ganglioside)
Mixed disorder of acid-base balance
HEXB
Hexosaminidase A
Sphingolipids
Sphingolipids
Hyperchole- sterolemia, familial
Our Lady of Sorrows
GM2A
Substrate reduction therapy
Dana scully
Hirayama syndrome
Thyrotoxic Myopathy
Warren Tay
Globoside
Ashkenazi Jewish
Glycolipid
Ganglioside
more...
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