A Fact Sheet on Genetics

The Genetics FactSheet: A compilation of facts and figures about elements that figure in the study of medical genetics	The Genetics FactSheet

Types of Genetic Diseases
Chromosomal Disorders
Mitochondrial gene disorders
Single gene disorders
Miultifactorial disorders
Somatic cell genetic disorders

Type of genetic disease	Diagnostic tests
Chromosomal disorders	Chromosomal analysis
Mitochondrial disorders	Pedigree Analysis Clinical Examination Biochemical tests and profiles DNA Analysis
Single gene disorders	Pedigree analysis Clinical examination Biochemical tests and profiles DNA Analysis Other investigations
Multifactorial disorders	Pedigree analysis Clinical examination Biochemical tests and profiles DNA Analysis Other investigations
Somatic Cell disorders	Histopathology DNA Analysis Chromosomal Analysis

Supposedly, to-date, more than 5700 genetic disorders have been discovered and they affect about 1% of the world's population. A through listing of these is beyond the scope here, but the most common and relevant ones are mentioned here. The disorders mentioned below are single-gene disorders

Single Gene disorders
Achondroplasia Acute intermittent porphyria Adrenoleucodystrophy Agammaglobinemia Albinism Alpha1-antitrypsin defiecency Alpha-thalassemia Alport Syndrome Androgen insensitivity syndrome Apert Syndrome Ataxia Telangiectesia Beta-thalassemia Branchio-oto-renal syndrome Color blindness Congenital andrenal hyperplasia Congenital spherocytosis Cystic fibrosis Cystinuria Ehlers-Danlos Syndrome Epidermolysisi bullosa Fabry Disease Fanconi Anaemia Fragile X Syndrome Friedrich's Ataxia Galactosemia Gaucher's Disease Gilles de la Tourette Syndrome Haemochromatosis Haemophilia A Haemophilia B Hand-Heart Syndrome Hepatolenticular Degeneration Hereditary angio-edema Hereditary haemorhagic telangiectesia Hereditary thrombophilia Huntington's Disease Hypercholesterolemia Hyperthermia. malignant Hypertrophic obstructive cardiomyopathy Incontinentia pigmenta Intestinal polyposis Leber optic atrophy Lesch-Nyhan Syndrome Marfan Syndrome Meckel Syndrome MCAD Deficiency Mucopolysaccharidoses Multiple endocrine neoplasia Facioscapulohumeral muscular dystrophy X-linked muscle dystrophy Myotonic dystrophy Neurofibromatosis I Neurofibromatosis II Noonan Syndrome Osteogenesis imperfecta Otosclerosis Polycystic Kidney Pseudoxanthoma elasticum Retinitis Pigmentosa Retinoblastoma Rett Syndrome SCID Sickle cell disease Spinal muscular dystrophy Tay-sachs Disease Thrombocytopenia-absent radius syndrome Treacher-Collins Syndrome Van der woude Syndrome Von-Hippel-Lindau Syndrome Von Willebrand Disease Waardenburg Syndrome Wilm's Syndrome Xeroderma Pigmentosum Zellweger Syndrome

Single Gene disorders

Achondroplasia
Acute intermittent porphyria
Adrenoleucodystrophy
Agammaglobinemia
Albinism
Alpha1-antitrypsin defiecency
Alpha-thalassemia
Alport Syndrome
Androgen insensitivity syndrome
Apert Syndrome
Ataxia Telangiectesia
Beta-thalassemia
Branchio-oto-renal syndrome
Color blindness
Congenital andrenal hyperplasia
Congenital spherocytosis
Cystic fibrosis
Cystinuria
Ehlers-Danlos Syndrome
Epidermolysisi bullosa
Fabry Disease
Fanconi Anaemia
Fragile X Syndrome
Friedrich's Ataxia
Galactosemia
Gaucher's Disease
Gilles de la Tourette Syndrome
Haemochromatosis
Haemophilia A
Haemophilia B
Hand-Heart Syndrome
Hepatolenticular Degeneration
Hereditary angio-edema
Hereditary haemorhagic telangiectesia
Hereditary thrombophilia
Huntington's Disease
Hypercholesterolemia
Hyperthermia. malignant
Hypertrophic obstructive cardiomyopathy
Incontinentia pigmenta
Intestinal polyposis
Leber optic atrophy
Lesch-Nyhan Syndrome
Marfan Syndrome
Meckel Syndrome
MCAD Deficiency
Mucopolysaccharidoses
Multiple endocrine neoplasia
Facioscapulohumeral muscular dystrophy
X-linked muscle dystrophy
Myotonic dystrophy
Neurofibromatosis I
Neurofibromatosis II
Noonan Syndrome
Osteogenesis imperfecta
Otosclerosis
Polycystic Kidney
Pseudoxanthoma elasticum
Retinitis Pigmentosa
Retinoblastoma
Rett Syndrome
SCID
Sickle cell disease
Spinal muscular dystrophy
Tay-sachs Disease
Thrombocytopenia-absent radius syndrome
Treacher-Collins Syndrome
Van der woude Syndrome
Von-Hippel-Lindau Syndrome
Von Willebrand Disease
Waardenburg Syndrome
Wilm's Syndrome
Xeroderma Pigmentosum
Zellweger Syndrome

List compiled from:-Essential Medical Genetics, J M Connor, M A Ferguson-Smith, Fourth Edition, Blackwell Science

The Genetics FactSheet