Deets Flashcards
1
Q
X linked dominant conditions?
A
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
2
Q
X linked recessive conditions?
A
Androgen insensitivity syndrome Becker muscular dystrophy Colour blindness Duchenne muscular dystrophy Fabry's disease G6PD deficiency Haemophilia A,B Hunter's disease Lesch-Nyhan syndrome Nephrogenic diabetes insipidus Ocular albinism Retinitis pigmentosa Wiskott-Aldrich syndrome
3
Q
Autosomal dominant conditions?
A
Achondroplasia Acute intermittent porphyria Adult polycystic disease Antithrombin III deficiency Ehlers-Danlos syndrome Familial adenomatous polyposis Hereditary haemorrhagic telangiectasia Hereditary spherocytosis Hereditary non-polyposis colorectal carcinoma Huntington's disease Hyperlipidaemia type II Hypokalaemic periodic paralysis Malignant hyperthermia Marfan's syndromes Myotonic dystrophy Neurofibromatosis Noonan syndrome Osteogenesis imperfecta Peutz-Jeghers syndrome Retinoblastoma Romano-Ward syndrome tuberous sclerosis Von Hippel-Lindau syndrome Von Willebrand's disease*
4
Q
Autosomal recessive conditions?
A
Albinism Ataxic telangiectasia Congenital adrenal hyperplasia Cystic fibrosis Cystinuria Familial Mediterranean Fever Fanconi anaemia Friedreich's ataxia Gilbert's syndrome* Glycogen storage disease Haemochromatosis Homocystinuria Lipid storage disease: Tay-Sach's, Gaucher, Niemann-Pick Mucopolysaccharidoses: Hurler's PKU Sickle cell anaemia Thalassaemias Wilson's disease
