| Disease | AD, AR, XR |
|---|
| Glycogen storage diseases | |
| Hemophilia A and B | |
| Cystic Fibrosis | |
| NF2- Bilateral acoustic schwannoma. NF2 gene on chromosome 22 | |
| Familial Hypercholesterolemia- Type IIA- Elevated LDL due to defective or absent LDL receptor | |
| Wiskott-Aldrich syndrome | |
| Sickle cell anemia | |
| ADPKD- Always bilateral. Berry aneurysms | |
| Hunter's Syndrome | |
| NF1 - Cafe au lait spots, neural tumors, Lisch nodules (pigmented iris hamartomas). On chromosome 17. | |
| Duchenne's (and Becker's) muscular dystrophy | |
| Lesch-Nyan syndrome | |
| Thalassemias | |
| Sphingolipidoses (Except Fabry's) | |
| Hereditary spherocytosis - Spheroid erythrocytes due to spectrin or ankyrin defect. Splenectomy is curative. | |
| Huntington's Disease- Decreased GABA and ACh in the brain. | |
| | Disease | AD, AR, XR |
|---|
| Ocular albinism | |
| Familial Adenomatous Polyposis- Mutation on chromosome 5 (APC gene) | |
| Hemochromatosis | |
| Von-Hippel Lindau disease- Hemangioblastomas of retina, cerebellum, medulla. Associated with deletion of VHL gene on chromosome 3. Activation of angiogenic growth factors | |
| Bruton's agammaglobulinemia | |
| G6PD deficiency | |
| Albinism | |
| Multiple Endocrine Neoplasia- Associated with ret gene | |
| Achondroplasia - Cell signaling defect of FGFR3 | |
| Marfan's Syndrome- Fibrillin gene mutation- Cystic medial necrosis of aorta. | |
| Fabry's disease | |
| Mucopolysaccharidoses (except Hunter's) | |
| Phenylketonuria | |
| ARPKD | |
| Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome) - Inherited disorder of blood vessels | |
| Tuberous sclerosis- Ash leaf spots. Seizures, mental retardation, angiomyolipomas, cardiac rhabdomyomas, increased incidence of astrocytomas. | |
|
Periodic Table
Multiplication Table
Minute Math (Addition)
