AUTOSOMAL DOMINANT DISEASES

Disease Adult polycystic kidney disease Familial Hipercolesterolemia Familial Adenomatous Polyposis Marphan Syndrome Neurofibromatosis type I Neurofibromatosis type I Von Hipplel-Lindau disease Hunginton's Disease Hereditary Spherocytosis Tuberous Sclerosis Acondroplasia

Remarks Mutation APKD1 (chr 16) Hyperlipidemia type IIA FAP Ch 5 AD Positive Colon Ca Fibrillin gene mutation Von Recklinghausen's disease q17 Bilateral Acustic Neuroma Deletion of VHL gene chr 3p chr 4 triplet repeat disorder Increased MCHC Tuberous Sclerosis Acondroplasia

AUTOSOMAL RECESSIVE DISEASE Cystic fibrosis Albinism α1-antitrypsin deficiency Phenylketonuria Thalassemias Sickle cell anemias Glycogen storage diseases Mucopolysaccharidoses (except Hunter’s) Sphingolipidoses (except Fabry’s) Infant polycystic kidney disease Hemochromatosis.

X-LINKED RECESSIVE DISEASE Fragile X Duchenne’s muscular dystrophy Hemophilia A and B Fabry’s G6PD deficiency Hunter’s syndrome Ocular albinism Lesch–Nyhan syndrome Bruton’s agammaglobulinemia Wiskott–Aldrich syndrome

Source: FA