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Fabry Disease
Fabry disease
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Lipid storage disorders
(13)
Farber disease
GM1 gangliosidoses
Gangliosidoses
Gangliosidoses gm2
Gaucher disease
Gaucher disease
Krabbe disease
Multiple sulfatase deficiency
Niemann Pick disease
Sandhoff disease
Wolman disease
Niemann-Pick disease, type C
Schindler disease
Tay-Sachs disease
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Skin conditions resulting from errors in metabolism
(85)
Cerebrotendineous xanthomatosis
Familial alpha-lipoprotein deficiency
Fucosidosis
Hunter syndrome
Morquio
Morquio
Mucolipidosis I
Acute intermittent porphyria
Adrenoleuk- odystrophy
Alkaptonuria
Amyloid purpura
Amyloidosis
Apolipoprotein B deficiency
B-mannosidase deficiency
CADASIL syndrome
Calcinosis cutis
Carotenosis
Citrullinemia
Combined hyperlipidemia
Diabetic bulla
Diabetic cheiroarthropathy
Diabetic dermopathy
Dystrophic calcinosis cutis
Eruptive xanthoma
Erythropoietic porphyria
Erythropoietic protoporphyria
Familial apoprotein CII deficiency
Familial dysbetalip- oproteinemia
Familial hypertrigl- yceridemia
Farber disease
Gaucher disease
Gout
Gunther disease
Hartnup disease
Hepatoeryt- hropoietic porphyria
Hereditary coproporphyria
Heredofamilial amyloidosis
Hurler syndrome
Hyaluronidase deficiency
Iatrogenic calcinosis cutis
Idiopathic scrotal calcinosis
Lafora disease
Lesch–Nyhan syndrome
Lichen amyloidosis
Limited joint mobility
Lipoprotein lipase deficiency
Macular amyloidosis
Medication-induced hyperlipop- roteinemia
Metastatic calcinosis cutis
Myxedema
Necrobiosis lipoidica
Niemann Pick disease
Nodular amyloidosis
Nodular xanthoma
Normolipop- roteinemic xanthomatosis
Ochronosis
Osteoma cutis
Palmar xanthoma
Phenylketonuria
Porphyria
Porphyria cutanea tarda
Primary cutaneous amyloidosis
Primary systemic amyloidosis
Prolidase deficiency
Pseudoporphyria
Secondary cutaneous amyloidosis
Secondary systemic amyloidosis
Sitosterolemia
Subepidermal calcified nodule
Transient erythroporphyria of infancy
Traumatic calcinosis cutis
Tuberoeruptive xanthoma
Tumoral calcinosis
Urbach–Wiethe disease
Variegate porphyria
Verruciform xanthoma
Waxy skin
Xanthelasma
Xanthoma
Xanthoma diabeticorum
Xanthoma planum
Xanthoma striatum palmare
Xanthoma tendinosum
Xanthoma tuberosum
Xanthomatosis
Xanthomatous biliary cirrhosis
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Lysosomal storage diseases
(39)
Batten disease
Cholesteryl ester storage disease
Cystinosis
Lipidosis
Lysosomal storage disorders
Lysosomal storage disorders
Metachromatic leukodystrophy
Mucolipidoses
Mucopolysa- ccharidoses
Neuronal ceroid lipofuscinosis
Pompe disease
Pseudo-Hurler polydystrophy
Alpha-mannosidosis
Aspartylgl- ucosaminuria
Canavan disease
Farber disease
GM1 gangliosidoses
Galactosialidosis
Gangliosidoses
Gangliosidoses gm2
Gaucher disease
Glycoproteinosis
Hunter syndrome
Hurler syndrome
I-cell disease
Krabbe disease
Morquio
Mucolipidosis I
Mucolipidosis type IV
Multiple sulfatase deficiency
Niemann Pick disease
Niemann-Pick disease, type C
Pycnodysostosis
Salla disease
Sandhoff disease
Sanfilippo syndrome
Schindler disease
Sly syndrome
Tay-Sachs disease
Wolman disease
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Genetic disorders
(51)
Tay-sachs disease, ab variant
Niemann-Pick disease, SMPD1-associated
Female pseudo-Turner syndrome
Norrie disease
Friedreich ataxia
Friedreich ataxia
Smith-Magenis syndrome
Faciocutan- eoskeletal syndrome
X-linked sideroblastic anemia
MASA syndrome
Aicardi syndrome
Barth syndrome
Simpson-Go- labi-Behmel syndrome
Alport syndrome
Pyruvate dehydrogenase deficiency
Fetal face syndrome
Atriodigital dysplasia
Maple syrup urine disease
Galactose-- 1-phosphate uridylyltransferase galactosemia
Fibrinoid degeneration of astrocytes
Amylo-1,6-- glucosidase deficiency
Allan Herndon syndrome
Essential fructosuria
Ataxia with Lactic Acidosis, Type II
McLeod syndrome
Caylor cardiofacial syndrome
Familial enteropathy
N-acetylglutamate synthase deficiency
Pompe disease
Gaucher disease
Lipidosis
Cerebrotendineous xanthomatosis
GM1 gangliosidoses
Sandhoff disease
Hunter syndrome
Metachromatic leukodystrophy
Cholesteryl ester storage disease
Farber disease
Niemann Pick disease
Batten disease
Cystinosis
Gangliosidoses gm2
Gangliosidoses
Mucolipidoses
Multiple sulfatase deficiency
Mucopolysa- ccharidoses
Fucosidosis
Familial alpha-lipoprotein deficiency
Krabbe disease
Morquio
Wolman disease
Pseudo-Hurler polydystrophy
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Rare diseases
(22)
Pompe disease
Gaucher disease
Lipidosis
GM1 gangliosidoses
Sandhoff disease
Sandhoff disease
Tay-sachs disease, ab variant
Metachromatic leukodystrophy
Cholesteryl ester storage disease
Farber disease
Niemann Pick disease
Gangliosidoses gm2
Gangliosidoses
Multiple sulfatase deficiency
Fucosidosis
Fetal face syndrome
Neuronal ceroid lipofuscinosis
Maple syrup urine disease
Fibrinoid degeneration of astrocytes
Krabbe disease
Familial enteropathy
Morquio
Wolman disease
more...
Diseases and disorders
(24)
Danon disease
MPS VI
Fructose bisphosphatase deficiency
X-linked hypophosphatemia
Primary hyperoxaluria
Primary hyperoxaluria
Lipidosis
Cerebrotendineous xanthomatosis
GM1 gangliosidoses
Sandhoff disease
Metachromatic leukodystrophy
Farber disease
Niemann Pick disease
Gangliosidoses gm2
X-linked sideroblastic anemia
MASA syndrome
Gangliosidoses
Mucolipidosis I
Multiple sulfatase deficiency
Pyruvate dehydrogenase deficiency
Fucosidosis
Neuronal ceroid lipofuscinosis
Krabbe disease
Morquio
Wolman disease
more...
Medical condition
(46)
Sea-blue histiocyte syndrome
Hypohidrotic ectodermal dysplasia
Jansky-bielschowsky disease
Familial dysautonomia
Metabolic defect
Metabolic defect
Femoral facial syndrome
Gouty nephropathy familial
Nuchal bleb familial
Fumarylacetoacetase deficiency disease
Fetal aids infection
Pompe disease
Gaucher disease
Lysosomal storage diseases
Cerebrotendineous xanthomatosis
Sandhoff disease
Hunter syndrome
Female pseudo-Turner syndrome
Metachromatic leukodystrophy
Cholesteryl ester storage disease
Norrie disease
Friedreich ataxia
Farber disease
Batten disease
Faciocutan- eoskeletal syndrome
Cystinosis
X-linked sideroblastic anemia
Mucolipidosis I
Mucolipidoses
Mucopolysa- ccharidoses
Barth syndrome
Alport syndrome
Pyruvate dehydrogenase deficiency
Fucosidosis
Fetal face syndrome
Neuronal ceroid lipofuscinosis
Maple syrup urine disease
Galactose-- 1-phosphate uridylyltransferase galactosemia
Fibrinoid degeneration of astrocytes
Essential fructosuria
Familial alpha-lipoprotein deficiency
Ataxia with Lactic Acidosis, Type II
Krabbe disease
Caylor cardiofacial syndrome
Familial enteropathy
Morquio
Wolman disease
more...
Metabolic disorders
(59)
Inborn errors of metabolism
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
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
Sucrose intolerance
Tay-Sachs disease
Triosephosphate isomerase deficiency
Urbach–Wiethe disease
Urea cycle disorder
Winchester syndrome
Wolman disease
more...
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
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
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
Familial alpha-lipoprotein deficiency
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 V
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
Krabbe disease
Lecithin cholesterol acyltransferase deficiency
Lesch–Nyhan syndrome
Lipid storage disorders
Lipidosis
Long-chain 3-hydroxya- cyl-coenzyme A dehydrogenase deficiency
Lysinuric protein intolerance
Lysosomal storage diseases
Lysosomal storage disorders
Malonyl-CoA decarboxylase deficiency
Maple syrup urine disease
Medium-chain acyl-coenzyme A dehydrogenase deficiency
Menkes disease
Metab-L
Metabolic defect
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
Pompe disease
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
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...
Lipids
Glycosphingolipids
Glucocerebroside
Glycolipid
Sphingolipids
EC numbers (EC 3)
Glucocerebrosidase
Aldurazyme
Hexosaminidase A
Arylsulfatase A
Autosomal recessive disorders
(249)
17-beta-hy- droxysteroid dehydrogenase deficiency
2-Hydroxyglutaric aciduria
3-Methylcr- otonyl-CoA carboxylase deficiency
Abdallat Davis Farrage syndrome
Abderhalde- n-Kaufmann-Lignac 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
Amylo-1,6-- glucosidase deficiency
Antley-Bixler syndrome
Argininemia
Argininosuccinic aciduria
Arterial tortuosity syndrome
Aspartylgl- ucosaminuria
Ataxia with Lactic Acidosis, Type II
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
Craniodiaphyseal dysplasia
Cystathioninuria
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
Essential fructosuria
Ethylmalonic encephalopathy
Familial Mediterranean fever
Familial alpha-lipoprotein deficiency
Familial dysautonomia
Familial enteropathy
Familial isolated vitamin E deficiency
Fanconi anemia
Farber disease
Fibrochondrogenesis
Finnish heritage disease
Fountain syndrome
Friedreich ataxia
Fucosidosis
Fumarase deficiency
Galactokinase deficiency
Galactose epimerase deficiency
Galactose-- 1-phosphate uridylyltransferase galactosemia
Galloway Mowat syndrome
Gangliosidoses
Gastroschisis
Gaucher disease
Gerodermia osteodysplastica
Giant axonal neuropathy
Gitelman syndrome
Glanzmann's thrombasthenia
Glucose-galactose malabsorption
Glutaric acidemia type 2
Glutaric aciduria type 1
Glutathione synthetase deficiency
Glycogen storage disease type I
Glycogen storage disease type V
Griscelli syndrome
Guanidinoacetate methyltransferase deficiency
Gunther disease
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
Krabbe disease
Lafora disease
Laron syndrome
Lecithin cholesterol acyltransferase deficiency
Leukocyte adhesion deficiency
Lipidosis
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
Mitochondrial trifunctional protein deficiency
Morquio
Mucolipidoses
Mucolipidosis type IV
Mucopolysa- ccharidoses
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
Phosphofructokinase deficiency
Pompe disease
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
Tay-Sachs disease
Tay-sachs disease, ab variant
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...
See also
(20)
Enzyme replacement therapy
Thomas Fabri
Transkaryotic Therapies
Angiokeratomas
Globotriao- sylceramide
Globotriao- sylceramide
Galactosidase
Cerezyme
Genzyme
Hemizygous
Hyper IgM Syndrome Type 1
Myozyme
Phase 2 clinical trials
Lysosomal
Acroparesthesia
Pharmacological chaperone
J. Inherit. Metab. Dis.
Thyrogen
Enzyme assay
Anti-thymocyte globulin
Mixed disorder of acid-base balance
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