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Alpha-mannosidosis
Alpha-mannosidosis
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Rare diseases
(18)
Beta-mannosidosis
Aspartylgl- ucosaminuria
Salla disease
GM1 gangliosidoses
Galactosialidosis
Galactosialidosis
Sarcosinemia
Fucosidosis
Gangliosidoses gm2
Megalencephaly with hyaline inclusion
Cholesteryl ester storage disease
Schindler disease
Mucosulfatidosis
Acral dysostosis with facial and genital abnormalities
Farber disease
Wolman disease
Sly syndrome
Angiokeratoma Corporis Diffusum
Sandhoff disease
more...
Lysosomal storage diseases
(39)
Glycoproteinosis
I-cell disease
Lysosomal disease
Mucolipidosis
Mucolipidosis I
Mucolipidosis I
Mucolipidosis type 4
Pseudo-Hurler polydystrophy
Angiokeratoma Corporis Diffusum
Aspartylgl- ucosaminuria
Batten disease
Canavan disease
Cholesteryl ester storage disease
Cystinosis
Farber disease
GM1 gangliosidoses
Galactosialidosis
Gangliosidoses gm2
Gangliosidosis
Gaucher's disease
Glycogen storage disease type II
Hunter syndrome
Hurler syndrome
Krabbe disease
Lipid storage disorder
Metachromatic leukodystrophy
Morquio syndrome
Mucopolysa- ccharidosis
Mucosulfatidosis
Neuronal ceroid lipofuscinosis
Niemann-Pick disease, type C
Niemann–Pick disease
Pycnodysostosis
Salla disease
Sandhoff disease
Sanfilippo syndrome
Schindler disease
Sly syndrome
Tay-Sachs disease
Wolman disease
more...
Autosomal recessive disorders
(248)
3 methylcrotonyl-coa carboxylase deficiency
ACADM deficiency
Acatalasia
Aceruloplasminemia
Acrodermatitis enteropathica
Acrodermatitis enteropathica
Amylo-1,6-- glucosidase deficiency
Ataxia with Lactic Acidosis, Type II
Carbamoyl phosphate synthetase I deficiency
Cerebrotendineous xanthomatosis
Cystathioninuria
Essential fructosuria
Galactose-- 1-phosphate uridylyltransferase galactosemia
Glutaric acidemia type 1
Histidinemia
Lecithin cholesterol acyltransferase deficiency
MTP deficiency
Monosaccharide malabsorption
N-acetylglutamate synthase deficiency
17-beta-hy- droxysteroid dehydrogenase deficiency
2-Hydroxyglutaric aciduria
Abdallat Davis Farrage syndrome
Abderhalde- n-Kaufmann-Lignac syndrome
Abetalipop- roteinemia
Ablepharon macrostomia syndrome
Acheiropodia
Acrocallosal syndrome
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
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
Fucosidosis
Fumarase deficiency
GM2-gangliosidosis, AB variant
Galactokinase deficiency
Galactose epimerase deficiency
Galloway Mowat syndrome
Gangliosidosis
Gastroschisis
Gaucher's disease
Gerodermia osteodysplastica
Giant axonal neuropathy
Gitelman syndrome
Glanzmann's thrombasthenia
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
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
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
Meleda disease
Metachromatic leukodystrophy
Methemoglobinemia
Methylmalonic acidemia
Mevalonate kinase deficiency
Micro syndrome
Microvillous inclusion disease
Morquio syndrome
Mucolipidosis
Mucolipidosis type 4
Mucopolysa- ccharidosis
Mucosulfatidosis
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
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
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...
Genetic disorder
(13)
Andersen disease
Beta-mannosidosis
Aspartylgl- ucosaminuria
Galactose-- 1-phosphate uridylyltransferase galactosemia
Salla disease
Salla disease
Sarcosinemia
Fucosidosis
Acatalasia
Amylo-1,6-- glucosidase deficiency
MTP deficiency
Carbamoyl phosphate synthetase I deficiency
Aceruloplasminemia
Cystathioninuria
more...
Skin conditions resulting from errors in metabolism
Mucolipidosis I
Cerebrotendineous xanthomatosis
Fucosidosis
Farber disease
Angiokeratoma Corporis Diffusum
Diseases and disorders
(17)
Fructose bisphosphatase deficiency
Disorders of calcium metabolism
Maroteaux-Lamy syndrome
Carbohydrate deficient glycoprotein syndrome
Mucolipidosis I
Mucolipidosis I
Glycoproteinosis
Cerebrotendineous xanthomatosis
GM1 gangliosidoses
Galactosialidosis
Fucosidosis
Gangliosidoses gm2
Mucosulfatidosis
Lecithin cholesterol acyltransferase deficiency
Farber disease
Wolman disease
Angiokeratoma Corporis Diffusum
Sandhoff 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
Carbohydrate deficient glycoprotein syndrome
Childhood obesity
Congenital hyperinsulinism
Crigler-Najjar syndrome
Diagnostic fast
Disaccharidase
Disorders of calcium metabolism
Ectopic calcification
Farber disease
Fructose malabsorption
GM1 gangliosidoses
Galactosemia
Galactosemic cataract
Gangliosidoses gm2
Gangliosidosis
Gaucher's 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, type C
Niemann–Pick disease
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...
EC numbers (EC 3)
Alpha-mannosidase
FUCA1
Aspartylgl- ucosaminidase
Exoglycosidase
Enzyme
Mannosidase
Dolichol kinase
N-acetylgl- ucosamine-1-phosphate transferase
Alpha-mannosidase
FUCA1
Aspartylgl- ucosaminidase
Exoglycosidase
Symptoms
Absence of corpus callosum
Splenomegaly
Coarse facial features
Sucrose intolerance
Genetic disorders
(48)
Allan Herndon syndrome
Anderson-Warburg syndrome
Metatropic dysplasia type II
Myopathy, Mitochondr- ial-Encephalopathy-Lactic Acidosis-Stroke
Atriodigital dysplasia
Atriodigital dysplasia
Partial monosomy 13q
Beta-mannosidosis
Aspartylgl- ucosaminuria
Pseudo-Hurler polydystrophy
Cerebrotendineous xanthomatosis
Galactose-- 1-phosphate uridylyltransferase galactosemia
Essential fructosuria
Salla disease
GM1 gangliosidoses
N-acetylglutamate synthase deficiency
Galactosialidosis
Sarcosinemia
Fucosidosis
Gangliosidoses gm2
Glutaric acidemia type 1
Megalencephaly with hyaline inclusion
Mucolipidosis type 4
Acatalasia
Ataxia with Lactic Acidosis, Type II
Cholesteryl ester storage disease
Schindler disease
Mucosulfatidosis
Lecithin cholesterol acyltransferase deficiency
ACADM deficiency
Amylo-1,6-- glucosidase deficiency
MTP deficiency
Carbamoyl phosphate synthetase I deficiency
Aceruloplasminemia
Mucolipidosis
Cystathioninuria
Acral dysostosis with facial and genital abnormalities
Farber disease
Wolman disease
Monosaccharide malabsorption
Histidinemia
3 methylcrotonyl-coa carboxylase deficiency
Del Castillo syndrome
Sly syndrome
Angiokeratoma Corporis Diffusum
Andersen disease
Acrodermatitis enteropathica
Carbohydrate deficient glycoprotein syndrome
Sandhoff disease
more...
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
ACADM deficiency
Acatalasia
Adenosine deaminase deficiency
Adenylosuccinate lyase deficiency
Aldolase A deficiency
Amylo-1,6-- glucosidase deficiency
Analbuminaemia
Arakawa's syndrome II
Argininemia
Argininosuccinic aciduria
Aspartylgl- ucosaminuria
Ataxia with Lactic Acidosis, Type II
Beta-ketothiolase deficiency
Carbamoyl phosphate synthetase I deficiency
Carbohydrate deficient glycoprotein syndrome
Carnitine palmitoylt- ransferase I deficiency
Carnitine palmitoylt- ransferase II deficiency
Carnitine-- acylcarnitine translocase deficiency
Cholesteryl ester storage disease
Citrullinemia
Crigler-Najjar syndrome
D-Glyceric acidemia
DOOR syndrome
Dihydropyrimidine dehydrogenase deficiency
Disaccharidase
Essential fructosuria
Fucosidosis
Fumarase deficiency
Galactose-- 1-phosphate uridylyltransferase galactosemia
Galactosemia
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
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 disease
Lysosomal storage diseases
MTP deficiency
Malonyl-CoA decarboxylase deficiency
Maple syrup urine disease
Menkes disease
Metab-L
Methylmalonic acidemia
Methylmalonyl-CoA mutase deficiency
Mevalonate kinase deficiency
Monosaccharide malabsorption
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 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...
Medical condition
(62)
Alpha b lysosomal mannosidosis
Mannosidosis alpha b lysosomal
Megalocornea mental retardation syndrome
Adolescent benign focal crisis
Myopathy desmin storage
Myopathy desmin storage
Maxillonasal dysplasia binder type
Myoclonic progressive familial epilepsy
Androgen insensitivity syndrome partial
Marinesco Sjogren
major aphthous ulcer
Megalencephaly cutis marmorata telangiectatica congenita
Hereditary spherocytic hemolytic anemia
Maxillofacial dysostosis
Macular degeneration polymorphic
Meyenburg-- Altherr-Uehlinger syndrome
Acidemia isovaleric
Alpha-l-iduronidase deficiency
Oculo-gast- rointestinal muscular dystrophy
Muscular dystrophies, limb-girdle
Athabaskan brainstem dysgenesis
Microcephalic primordial dwarfism
Anauxetic dysplasia
Amyloidosis, familial
Antley-bixler syndrome
Alveolar capillary dysplasia
Beta-mannosidosis
Aspartylgl- ucosaminuria
Mucolipidosis I
Cerebrotendineous xanthomatosis
Galactose-- 1-phosphate uridylyltransferase galactosemia
Essential fructosuria
Salla disease
Lysosomal storage diseases
Pentosuria
Sarcosinemia
Fucosidosis
Megalencephaly with hyaline inclusion
Anderson-Warburg syndrome
Mucolipidosis type 4
Acatalasia
Ataxia with Lactic Acidosis, Type II
Cholesteryl ester storage disease
Schindler disease
Metatropic dysplasia type II
Massive myoclonia
Myopathy, Mitochondr- ial-Encephalopathy-Lactic Acidosis-Stroke
MTP deficiency
Carbamoyl phosphate synthetase I deficiency
Aniridia cerebellar ataxia mental deficiency
Aceruloplasminemia
Mucolipidosis
Acral dysostosis with facial and genital abnormalities
Farber disease
Wolman disease
Monosaccharide malabsorption
Histidinemia
Sly syndrome
Angiokeratoma Corporis Diffusum
Andersen disease
Acrodermatitis enteropathica
Carbohydrate deficient glycoprotein syndrome
Sandhoff disease
more...
See also
(16)
Mixed disorder of acid-base balance
Agnosia, primary visual
Pentosuria
Hyperchole- sterolemia, familial
Massive myoclonia
Massive myoclonia
Aniridia cerebellar ataxia mental deficiency
Lysosomal
Marcus Gunn jaw winking syndrome
Maxillonasal dysplasia
Cronkhite-Canada
Mannosidases
Del Castillo syndrome
Glycoprotein
SLC17A5
Autosomal recessive
Locoweed
more...
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