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AUTOSOMAL RECESSIVE DISORDERS LIST
The list of disorders are given in alphabetical order below:
1 (list)
17-beta-hydroxysteroid dehydrogenase deficiency
2 (list)
2-Hydroxyglutaric aciduria
3 (list)
3-Methylcrotonyl-CoA carboxylase deficiency
A (list)
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
Adenylosuccinate lyase deficiency
Aicardi-Goutieres syndrome
Aldolase A deficiency
Alkaptonuria
Alpha-mannosidosis
Antley-Bixler syndrome
Argininemia
Argininosuccinic aciduria
Arterial tortuosity syndrome
Aspartylglucosaminuria
Atelosteogenesis, type II
Atransferrinemia
B (list)
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
C (list)
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
Chediak-Higashi syndrome
Chondrodystrophy
Chorea acanthocytosis
Citrullinemia
Cockayne syndrome
Congenital adrenal hyperplasia
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Congenital hepatic fibrosis
Congenital ichthyosiform erythrodema
Congenital insensitivity to pain with anhidrosis
Craniodiaphyseal dysplasia
Cystathioninuria
Cystic fibrosis
Cystinosis
Cystinuria
D (list)
D-Glyceric acidemia
Diastrophic dysplasia
Dihydropyrimidine dehydrogenase deficiency
Donohue syndrome
Dubin-Johnson syndrome
Dubowitz syndrome
E (list)
EEM syndrome
Ellis-van Creveld syndrome
Essential fructosuria
Ethylmalonic encephalopathy
F (list)
Familial Mediterranean fever
Familial dysautonomia
Familial isolated vitamin E deficiency
Fanconi anemia
Farber disease
Fibrochondrogenesis
Fountain syndrome
Fraser syndrome
Friedreich's ataxia
Fucosidosis
Fumarase deficiency
G (list)
GM2-gangliosidosis, AB variant
Galactokinase deficiency
Galactose epimerase deficiency
Galactose-1-phosphate uridylyltransferase galactosemia
Galloway Mowat syndrome
Gangliosidosis
Gastroschisis
Gaucher's 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 II
Glycogen storage disease type III
Glycogen storage disease type V
Phosphofructokinase deficiency
Griscelli syndrome
Guanidinoacetate methyltransferase deficiency
Gunther disease
H (list)
Harlequin type ichthyosis
Hartnup disease
Hemophagocytic lymphohistiocytosis
Hereditary pyropoikilocytosis
Hermansky-Pudlak syndrome
Histidinemia
Holocarboxylase synthetase deficiency
Homocystinuria
Hurler syndrome
Hyperlysinemia
Hypermethioninemia
Hyperprolinemia
Hypertryptophanemia
Hypervalinemia
I (list)
ICF syndrome
Ichthyosis lamellaris
Impossible syndrome
Infantile free sialic acid storage disease
Infantile neuroaxonal dystrophy
Isobutyryl-coenzyme A dehydrogenase deficiency
Isovaleric acidemia
J (list)
Jervell and Lange-Nielsen syndrome
Juvenile Primary Lateral Sclerosis
K (list)
Kaufman oculocerebrofacial syndrome
Keutel syndrome
Kindler syndrome
Krabbe disease
Kugelberg-Welander disease
L (list)
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 (list)
Malonyl-CoA decarboxylase deficiency
Maple syrup urine disease
Meckel syndrome
Medium-chain acyl-coenzyme A dehydrogenase deficiency
Meleda disease
Metachromatic leukodystrophy
Methemoglobinemia
Methylmalonic acidemia
Mevalonic aciduria
Micro syndrome
Microvillous inclusion disease
Mitochondrial trifunctional protein deficiency
Morquio syndrome
Mucolipidosis
Mucolipidosis type IV
Mucopolysaccharidosis
N (list)
N-Acetylglutamate synthase deficiency
Nemaline myopathy
Nephronophthisis
Netherton syndrome
Nezelof syndrome
Niemann-Pick disease
O (list)
Ochronosis
Oculodentodigital syndrome
Oguchi disease
Omenn syndrome
Ornithine translocase deficiency
Orotic aciduria
Otospondylomegaepiphyseal dysplasia
P (list)
Papillon-Lefevre syndrome
Pendred syndrome
Persistent Mullerian duct 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 (list)
Rabson-Mendenhall syndrome
Raine syndrome
Rapadilino syndrome
Recessive multiple epiphyseal dysplasia
Renal dysplasia-limb defects syndrome
Renal-hepatic-pancreatic dysplasia
Reproductive compensation
Restrictive dermopathy
Richner Hanhart syndrome
Rothmund-Thomson syndrome
Rotor syndrome
S (list)
Sabinas brittle hair syndrome
Saccharopinuria
Salla disease
Sandhoff disease
Sanfilippo syndrome
Sarcosinemia
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 (list)
Tangier disease
Tay-Sachs disease
Tetrahydrobiopterin deficiency
Thalassemia
Trimethylaminuria
Triosephosphate isomerase deficiency
Type I tyrosinemia
Type II tyrosinemia
Type III tyrosinemia
Tyrosinemia
U (list)
Urbach–Wiethe disease
Urocanic aciduria
User:NorbertHerbert/CIE
User:NorbertHerbert/Ichthyosis hystrix
Usher syndrome
V (list)
Very long-chain acyl-coenzyme A dehydrogenase deficiency
Vici syndrome
W (list)
Weissenbacher-Zweymüller syndrome
Werdnig-Hoffman disease
Werner syndrome
Wilson's disease
Wolman disease
Woodhouse-Sakati syndrome
Y (list)
Yunis-Varon syndrome
X (list)
Xeroderma pigmentosum
Z (list)
ZAP70 deficiency
Zazam Sheriff Phillips syndrome
Zunich-Kaye syndrome
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