Inheritance Flashcards
• Achondroplasia
Autosomal dominant
• Albinism
Autosomal recessive
Name 4 X-Linked dominant diseases
Fragile X
• Alport’s syndrome (in around 85% of cases - 10-15% of cases are inherited in an autosomal recessive fashion with rare autosomal dominant variants existing)
• Rett syndrome
• Vitamin D resistant rickets
• Hereditary spherocytosis
Autosomal dominant
• Malignant hyperthermia
Autosomal dominant
• Becker muscular dystrophy, • Duchenne muscular dystrophy
X-linked recessive
• Chronic granulomatous disease (in >70%)
X-linked recessive
• Neurofibromatosis
Autosomal dominant
• Colour blindness
X-linked recessive
• Osteogenesis imperfecta
Autosomal dominant
• Alpha-1 antitrypsin deficiency
Autosomal recessive (or co-dominant)
• Retinoblastoma
Autosomal dominant
• Von Hippel-Lindau syndrome
Autosomal dominant
• Lesch-Nyhan syndrome
X-linked recessive
• Congenital adrenal hyperplasia
Autosomal recessive
• Marfan’s syndromes
Autosomal dominant
• Nephrogenic diabetes insipidus
X-linked recessive
• Noonan syndrome
Autosomal dominant
• Retinitis pigmentosa
X-linked recessive
• Cystinuria
Autosomal recessive
• Myotonic dystrophy
Autosomal dominant
• Peutz-Jeghers syndrome
Autosomal dominant
• Ehlers-Danlos syndrome
Autosomal dominant
• Acute intermittent porphyria
Autosomal dominant
• Familial Mediterranean Fever
Autosomal recessive
• Fanconi anaemia
Autosomal recessive
• Friedreich’s ataxia
Autosomal recessive
- G6PD deficiency
- Lipid storage disease (Tay-Sach’s, Gaucher, Niemann-Pick)
- Mucopolysaccharidoses (Hurler’s)
- PKU
Autosomal recessive
• Haemochromatosis
Autosomal recessive
• Thalassaemias
Autosomal recessive
• Wilson’s disease
Autosomal recessive
