Genetic Disorders Flashcards
Albinism
Autosomal recessive
ataxic telangectasia
autosomal recessive
Congenital adrenal hyperplasia
autosomal recessive
cystic fibrosis
autosomal recessive
Cystinuria
autosomal recessive
Familial Mediterranean Fever
autosomal recessive
Fanconi anaemia
autosomal recessive
Friedreich’s ataxia
autosomal recessive
Gilbert’s syndrome
autosomal recessive
Glycogen storage disease
autosomal recessive
Haemochromatosis
autosomal recessive
Homocystinuria
autosomal recessive
Lipid storage disease: Tay-Sach’s, Gaucher, Niemann-Pick
autosomal recessive
Mucopolysaccharidoses: Hurler’s
autosomal recessive
PKU
autosomal recessive
Sickle cell anaemia
autosomal recessive
Thalassaemias
autosomal recessive
Wilson’s disease
autosomal recessive
Achondroplasia
autosomal dominant
Acute intermittent porphyria
autosomal dominant
Antithrombin III deficiency
autosomal dominant
Adult polycystic disease
autosomal dominant
Ehlers-Danlos syndrome
autosomal dominant
Familial adenomatous polyposis
autosomal dominant
Hereditary haemorrhagic telangiectasia
autosomal dominant
Hereditary spherocytosis
autosomal dominant
Hereditary non-polyposis colorectal carcinoma
autosomal dominant
Huntington’s disease
autosomal dominant
Hyperlipidaemia type II
autosomal dominant
Hypokalaemic periodic paralysis
autosomal dominant
Malignant hyperthermia
autosomal dominant
Marfan’s syndromes
autosomal dominant
Myotonic dystrophy
autosomal dominant
Neurofibromatosis
autosomal dominant
Noonan syndrome
autosomal dominant
Osteogenesis imperfecta
autosomal dominant
Peutz-Jeghers syndrome
autosomal dominant
Retinoblastoma
autosomal dominant
Romano-Ward syndrome
autosomal dominant
tuberous sclerosis
autosomal dominant
Von Hippel-Lindau syndrome
autosomal dominant
Von Willebrand’s disease*
autosomal dominant
Androgen insensitivity syndrome
X-linked recessive
Becker muscular dystrophy
X-linked recessive
Colour blindness
X-linked recessive
Duchenne muscular dystrophy
X-linked recessive
Fabry’s disease
X-linked recessive
G6PD deficiency
X-linked recessive
Haemophilia A,B
X-linked recessive
Hunter’s disease
X-linked recessive
Lesch-Nyhan syndrome
X-linked recessive
Nephrogenic diabetes insipidus
X-linked recessive
Ocular albinism
X-linked recessive
Retinitis pigmentosa
X-linked recessive
Wiskott-Aldrich syndrome
X-linked recessive
Alport syndrome
X-linked dominant
Rett syndrome
X-linked dominant
Rett syndrome
X-linked dominant
Vitamin-D resistant rickets
X-linked dominant
Leber’s optic atrophy
mitochondrial
MELAS syndrome: mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes
mitochondrial
MERRF syndrome: myoclonus epilepsy with ragged-red fibres
mitochondrial
Kearns-Sayre syndrome: onset in patients < 20 years old, external ophthalmoplegia, retinitis pigmentosa. Ptosis may be seen
mitochondrial
sensorineural hearing loss
mitochondrial
