Category:Autosomal recessive disorders

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For more information on autosomal recessive inheritance, see the articles Autosome, Recessive gene and Dominance relationship.

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Pages in category "Autosomal recessive disorders"

The following 200 pages are in this category, out of 219 total. Updates to this list can occasionally be delayed for a few days.

1 17-beta-hydroxysteroid dehydrogenase deficiency 2 2-Hydroxyglutaric aciduria 3 3-Methylcrotonyl-CoA carboxylase deficiency A Abdallat Davis Farrage syndrome Abderhalden-Kaufmann-Lignac syndrome Abetalipoproteinemia Ablepharon macrostomia syndrome Acatalasia Aceruloplasminemia Acheiropodia Acrocallosal syndrome Acrodermatitis enteropathica Acute fatty liver of pregnancy Adducted thumb syndrome Adenine phosphoribosyltransferase deficiency Adenosine deaminase deficiency Aicardi-Goutieres syndrome Alkaptonuria Alpha-mannosidosis Antley-Bixler syndrome Argininemia Argininosuccinic aciduria Aspartylglucosaminuria Atelosteogenesis, type II Atransferrinemia B Bare lymphocyte syndrome Batten disease Behr's syndrome Bernard-Soulier syndrome Beta-ketothiolase deficiency Bietti's crystalline dystrophy Biotinidase deficiency Bloom syndrome Blue diaper syndrome C CAMFAK syndrome Canavan disease Carbamoyl phosphate synthetase I deficiency Carnitine palmitoyltransferase I deficiency Carnitine palmitoyltransferase II deficiency Carnitine-acylcarnitine translocase deficiency Carnosinemia Carpenter syndrome Cartilage-hair hypoplasia Cenani Lenz syndactylism Cerebrotendineous xanthomatosis Chédiak-Higashi syndrome Chondrodystrophy Citrullinemia Cockayne syndrome Congenital adrenal hyperplasia Congenital adrenal hyperplasia due to 21-hydroxylase deficiency Congenital hepatic fibrosis Craniodiaphyseal dysplasia Cystic fibrosis Cystinosis Cystinuria D D-Glyceric acidemia Diastrophic dysplasia Dihydropyrimidine dehydrogenase deficiency Donohue syndrome Dubin-Johnson syndrome Dubowitz syndrome E EEM syndrome Ellis-van Creveld syndrome Ethylmalonic encephalopathy F Familial Mediterranean fever

F cont. Familial dysautonomia Familial isolated vitamin e deficiency Fanconi anemia Farber disease Fountain syndrome Fraser syndrome Friedreich's ataxia Fucosidosis Fumarase deficiency G GM2-gangliosidosis, AB variant Galactokinase deficiency Galactose epimerase deficiency Galactose-1-phosphate uridylyltransferase galactosemia Galloway Mowat syndrome Gangliosidosis Gaucher's disease 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 II Glycogen storage disease type III Glycogen storage disease type V Phosphofructokinase deficiency Griscelli syndrome Guanidinoacetate methyltransferase deficiency Gunther's disease H Harlequin type ichthyosis Hartnup disease Hemophagocytic lymphohistiocytosis Hereditary pyropoikilocytosis Hermansky-Pudlak syndrome Histidinemia Holocarboxylase synthetase deficiency Homocystinuria Hurler syndrome Hyperlysinemia Hypermethioninemia Hyperprolinemia Hypervalinemia I ICF syndrome Ichthyosis lamellaris Impossible syndrome Infantile neuroaxonal dystrophy Isobutyryl-coenzyme A dehydrogenase deficiency Isovaleric acidemia J Jervell and Lange-Nielsen syndrome Juvenile Primary Lateral Sclerosis K Kaufman oculocerebrofacial syndrome Keutel syndrome Kindler syndrome Krabbe disease Kugelberg-Welander disease L Lafora disease Laron syndrome Lecithin cholesterol acyltransferase deficiency Leukocyte adhesion deficiency Lipoid congenital adrenal hyperplasia Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency Lucey-Driscoll syndrome Lysinuric protein intolerance M Malonyl-CoA decarboxylase deficiency Maple syrup urine disease

M cont. Meckel syndrome Medium-chain acyl-coenzyme A dehydrogenase deficiency Meleda disease Metachromatic leukodystrophy Methemoglobinemia Mevalonic aciduria Micro syndrome Microvillous inclusion disease Mitochondrial trifunctional protein deficiency Morquio syndrome Mucolipidosis Mucolipidosis type IV Mucopolysaccharidosis N N-Acetylglutamate synthase deficiency Nemaline myopathy Nephronophthisis Netherton syndrome Nezelof syndrome Niemann-Pick disease O Ochronosis Oculodentodigital syndrome Oguchi disease Omenn syndrome Ornithine translocase deficiency Orotic aciduria Otospondylomegaepiphyseal dysplasia P Papillon-Lefevre syndrome Pendred syndrome Phenylketonuria Primary carnitine deficiency Primary ciliary dyskinesia Progressive external ophthalmoplegia Prolidase deficiency Propionic acidemia Pseudodominance Pseudoxanthoma elasticum Purine nucleoside phosphorylase deficiency Pyruvate carboxylase deficiency R Rabson-Mendenhall syndrome Raine syndrome Rapadilino syndrome Recessive multiple epiphyseal dysplasia Renal dysplasia-limb defects syndrome Renal-hepatic-pancreatic dysplasia Restrictive dermopathy Richner Hanhart syndrome Rothmund-Thomson syndrome Rotor syndrome S Sabinas brittle hair syndrome Saccharopinuria Salla disease Sandhoff disease Sanfilippo syndrome Short-chain acyl-coenzyme A dehydrogenase deficiency Shwachman-Diamond syndrome Sickle-cell disease Situs inversus Sly syndrome Smith-Lemli-Opitz syndrome Succinic semialdehyde dehydrogenase deficiency Sugarman syndrome T Tangier disease Tay-Sachs disease Tetrahydrobiopterin deficiency Thalassemia Trimethylaminuria Triosephosphate isomerase deficiency

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Categories: Genetic disorders

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• This page was last modified 16:29, 28 April 2008 by Wikipedia user Kauczuk. Based on work by Wikipedia user(s) Rcej and Od Mishehu.
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