Mnemonics as Very Powerful DOMINANT Humans

V - Von willebrand disease / Von hippel-Lindu $

P - Pseudo-hypoparathyroidism

D - Dystrophia myotonica

O- Osteogenesis imperfecta, Osler-weber-rendu $

M - Marfan syndrome, Multiple Endocrine Neoplasia

I - Intermittent porphyria (Acute Intermittent porphyria)

N - Neurofibromatosis

A - Achondroplasia, Adult polycystic kidney disease

N - Noonan syndrome

T - Tuberous sclerosis

H - Hypercholesterolemia, Huntington's disease, Hypertrophic obstructive cardiomyopathy, Hereditary spherocytosis, Hereditary non polyposis coli, Hereditary hemorrhagic telangiectasia

CADASIL

Achondroplasia

In autosomal dominant diseases:

• both homozygotes and heterozygotes manifest disease (there is no carrier state)
• both males and females affected
• only affected individuals can pass on disease
• disease is passed on to 50% of children
• normally appears in every generation (although see below)