what are these diseases? Flashcards
Osler disease
autosomal dominant
PCKD
autosomal dominant
Neurofibromatosis
autosomal dominant
Fascioscapulohumoral MD
autosomal dominant
Huntington’s disease
autosomal dominant
Achondroplasia
autosomal dominant
Osteogenesis imperfecta
autosomal dominant
Factor V leiden
autosomal recessive
Cystic fibrosis
autosomal recessive
Haemochromatosis
autosomal recessive
Alpha 1 anti trypsin deficiency
autosomal recessive
Thalassemia major
autosomal recessive
Wilson disease
autosomal recessive
Sickle cell disease
autosomal recessive
Friedreich ataxia
autosomal recessive
Familial mediterranean fever
autosomal recessive
Gaucher disease
autosomal recessive
Haemophilia A
X linked
Duchenne MD
X linked
G6PD deficiency
X linked
Fabry disease
X linked
Fragile X syndrome
X linked
Trick to learn which are aut dom and which are aut recessive?
AR:”metabolic type things”
- CF, CAH, haemochromatosis, Wilson’s, thalassaemia
- an exception to this is the inherited ataxias which are also AR
AD: “structural”
- eg Huntington’s, achondroplasia, MEN
- exceptions are type II hyperlipidaemia and hypokalaemic periodic paralysis
