Autosomal Dominant Diseases

Autosomal Recessive

Majority of CNSdisorders except  Friedrich's Ataxia(AR) All Neurocutaneous syndromes/ Phacomatoses  except Ataxia Telengectasia. MODY 1(HNF 4 alpha) Familial Melanoma Basal Cell Nevus Syndrome Darier's Disease Factor V Leiden Mutation Neurofibromatosis 1 and 2 Von- Hippel-Lindau Syndrome acute intermittent porphyrias Sturge-Weber Syndrome Tuberous Sclerosis MEN 1 & 2 Familial Adenomatous polyposis hereditary non-polyposis colon cancer familial ca breast basal cell nevus li-fraumeni syndrome familial malignant melanoma HEREDITARY SPHEROCYTOSIS Von-willebrand disease HNPCC / Lynch Syndrome Gilbert's Syndrome Alagille Syndrome Peutz-Jeghers Syndrome Turcot's Syndrome Gardner's Syndrome Juvenile Polyposis Syndrome Hypertrophic Cardiomyopathy Long QT Syndrome Hypertrophic obstructive cardiomyopathy Marfan Syndrome Primary Pulmonary Hypertension(BMPR2 gene) Adult AD Polycystic Kidney Disease Familial Hypocalciuric Hypercalcemia Neurohypophyseal Diabetes Insipidus Familial Hyperaldosteronism Bartter's Syndrome Type 5 (1,2,3 and 4 are AR) Liddle's Syndrome Gordon's Syndrome / Pseudo-hypoaldosteronism Type II (Note : Liddle's - HTN with hypokalemia, Gordon's-- HTN with hyperkalemia) Malignant Hyperthermia / Central Core Disease Hyperkalemic/hypokalemic Periodic paralysis Familial Parkinsonism Disease Spinocerbellar Ataxias Amyotrophic lateral sclerosis familial alzhiemer’s disease malignant hyperthermia familial fatal insomnia Dystrophia Myotonica/ Myotonic Dystrophy hereditary hemmorhagic talengiectasia achondroplasia crouzon syndrome osteogenesis  imperfecta ehler’s danslos syndrome amylodosis male-limited pecociuos puberty thyroid harmone resistance Familial hypercholesterolemia adult Polycystic ovarian disorders Noonan Syndrome Best Disease Retinoblastoma

Majority of Inborn Errors of Metabolism all lysosomal storage disorders except—fabry’s all mucopolysacharidoses except—hunter’s all aminoacidurias-------except  ocular albinism all glycogen storage disorders except –hepatic phosphorylase all metabolic disorders axcept------lesh nyhan,acute intermittent porphyrias,familial hypercholesterolemia all immunodeficiency diseases except—chr. Granulomatous,wiskot Aldrich PKU Albinism glycogen storage disease tay-sachs disease gaucher’s disease mucopolysaccharidosis phenylketonuria pseudocholinesterase def. niemann pick disease Galactosemia Homocystinuria Canavan' s Disease Refsum's Disease Abetalipoproteinemia Ataxia Telengectasia Friedrich's Ataxia Alpha-1- Anti Trypsin deficiency Cystic Fibrosis Thalassemia(alpha & beta) Familial Mediterranean Fever taste blindness ARPCKD 21-Hydroxylase deficiency Bartter's Syndrome types 1,2,3 and 4 . (Type 5 is AD)(salt wasting, hypokalemia) Gitelman variant of Bartter's (salt wasting, hypokalemia and HYPOMAGNESEMIA) Wilson's Disease Caroli's Disease Hemochromatosis (HFE gene) Chediak-Higashi Syndrome vit.D dependent rickets/type 1 child Polycystic ovarian disorders Specific Granule Deficiency MPO Deficiency Sickle cell Anemia Werner Syndrome Acrodermatitis Enteropathica (Zn Deiciency) Kartagener's Syndrome Gyrate Atrophy

X-Linked Dominant

X-Linked Recessive

Alport Syndome (Dominant inheritance) / Hereditary Nephritis Syndrome. Incontinentia Pigmenti type 2 rickets/Vitamin D Resistant Rickets / Hypophosphatemic Rickets Double check before you study the following.. Rett syndrome Coffin-Lowry syndrome Aarsog Syndrome Aicardi Syndrome Idiopathic Hypoparathyroididsm OTC Deficiency

Hemophilia A Hemophilia B G6PD Deficiency Fragile-X Syndrome Kallmann Syndrome Adrenoleukodystrophy testicular feminization X-linked agammaglobulinemia chronic granulomatous disease Duchenne Muscular Dystrophy Becker Muscular Dystrophy Lesch-Nyhan Syndrome Red Green Colour blindness Ocular Albinism Lowe's Oculo-Cerebro-Renal Syndrome Wiscott-Aldrich Syndrome chronic granulomatous disease SCID Hunter's Syndrome (MPS) Menke's Kinky hair disease Fabry's Disease hepatic phosphorylase