C. Hemophilia A
D. Leber hereditary optic neuropathy
Autosomal inheritance pattern is shown in the image.
FEATURES OF AUTOSOMAL DOMINANT INHERITANCE
- Affected children usually have affected parents, which tends to result in the absence of skipped generations.
- There is a 50% chance of a child inheriting the gene from an affected parent.
- There is no carrier state.
- Males and females are equally likely to transmit the phenotype and to be affected.
- Many autosomal dominant diseases arise via new mutations.
ORGAN-BASED AUTOSOMAL DOMINANT DISEASES
- Autosomal dominant polycystic kidney disease
- Charcot-Marie-Tooth disease (most forms)
- Crigler-Najjar syndrome type II
- Ehlers-Danlos syndrome (certain forms)
- Familial hypertrophic cardiomyopathy
- Gilbert syndrome
- Hereditary hemorrhagic telangiectasia
- Hereditary spherocytosis
- Huntington disease
- Li-Fraumeni syndrome
- Marfan syndrome
- MEN syndromes
- Multiple polyposis syndromes
- Myotonic dystrophy
- Noonan syndrome
- Osteogenesis imperfecta
- Tuberous sclerosis
- von Hippel-Lindau syndrome
- von Willebrand disease