Encyclopedia of Human Genetics and Disease

Editor/Author Kelly, Evelyn B.
Publication Year: 2013
Publisher: Greenwood

Single-User Purchase Price: $189.00
Unlimited-User Purchase Price: $283.50
ISBN: 978-0-31-338713-5
Category: Health & Medicine - Medicine
Image Count: 42
Book Status: Available
Table of Contents

This two-volume encyclopedia examines the history, characteristics, causes, and treatment of genetic disease, as well as the science of genetics itself.

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Table of Contents

  • Introduction
  • VOLUME 1
  • Overviews
  • Genetic Disorders 101
  • Proteomics 101
  • The Genome and the Foundations of Genetics, with Timelines
  • Diseases, Disorders, and Special Topics
  • A
  • Aarskog-Scott Syndrome (AS)
  • Aase-Smith Syndrome
  • Achondroplasia
  • ACHOO Syndrome
  • Achromatopsia
  • Acoustic Neuroma
  • Acute Promyelocytic Leukemia
  • Adenosine Deaminase Deficiency
  • Age-Related Macular Degeneration (AMD)
  • Aging and Genetics: A Special Topic
  • Aicardi-Goutieres Syndrome (AGS)
  • Alagille Syndrome
  • Albinism
  • Alexander Disease
  • Alkaptonuria
  • Allan-Herndon-Dudley Syndrome
  • Alpha-1 Antitrypsin Deficiency (A1AT)
  • Alpha Thalassemia
  • Alport Syndrome
  • Alzheimer Disease (AD)
  • Amyotrophic Lateral Sclerosis (ALS)
  • Androgen Insensitivity Syndrome
  • Androgenetic Alopecia
  • Angelman Syndrome (AS)
  • Ankylosing Spondylitis (AS)
  • Apert Syndrome
  • Arts Syndrome
  • Autism/Autism Spectrum Disorders
  • B
  • Bardet-Biedl Syndrome
  • Bassen-Kornzweig Syndrome
  • Batten Disease
  • Beare-Stevenson Cutis Gyrata Syndrome
  • Beckwith-Wiedemann Syndrome (BWS)
  • Behçet Disease
  • Berardinelli-Seip Congenital Lipodystrophy
  • Beta Thalassemia
  • Bloom Syndrome
  • Boomerang Dysplasia
  • Breast Cancer Genetics: A Special Topic
  • Bruton Agammaglobulinemia
  • Burger-Grutz Syndrome
  • C
  • CADASIL
  • Campomelic Dysplasia
  • Camurati-Englemann Disease
  • Canavan Disease
  • Carney Complex
  • Celiac Disease
  • Cerebrotendinous Xanthomatosis
  • Charcot-Marie-Tooth Disease
  • CHARGE Syndrome
  • Chediak-Higashi Syndrome (CHS)
  • Cockayne Syndrome
  • Coffin-Lowry Syndrome (CLS)
  • Collagen: A Special Topic
  • Congenital Hypertrichosis
  • Cornelia de Lange Syndrome (CdLS)
  • Costello Syndrome (CS)
  • Cowden Syndrome (CS)
  • Cri-du-Chat Syndrome
  • Crohn Disease
  • Crouzon Syndrome
  • Cyclic Vomiting Syndrome (CVS)
  • Cystic Fibrosis (CF)
  • D
  • Dandy-Walker Syndrome (DWS)
  • Danon Disease
  • Darier Disease (DAR)
  • Dentatorubral-Pallidoluysian Atrophy (DRPLA)
  • Diabetic Embryopathy
  • Diamond-Blackfan Anemia (DBA)
  • Diastrophic Dysplasia
  • Donnai-Barrow Syndrome
  • Down Syndrome (DS)
  • Duane-Radial Ray Syndrome
  • Duchenne/Becker Muscular Dystrophy
  • Dystrophic Epidermolysis Bullosa (EB)
  • E
  • Early-Onset Glaucoma
  • Early-Onset Primary Dystonia
  • Ehlers-Danlos Syndrome (EDS)
  • Ellis–Van Creveld Syndrome
  • Emanuel Syndrome
  • Embryology: A Special Topic
  • Embryopathies: A Special Topic
  • Emery-Dreifuss Muscular Dystrophy (EDMD)
  • Epidermal Nevus and Epidermal Nevus Syndrome
  • Epilepsy
  • Erythromelalgia (EM)
  • Essential Tremor (ET)
  • Eugenics: A Special Topic
  • F
  • Fabry Disease
  • Facioscapulohumeral Muscular Dystrophy (FSHMD)
  • Factor V Leiden Thrombophilia
  • Fahr Disease
  • Familial Adenomatous Polyposis (FAP)
  • Familial Atrial Fibrillation (AF)
  • Familial Cold Autoinflammatory Syndrome
  • Familial Dysautonomia (FD)
  • Fanconi Anemia
  • Fanconi Syndrome
  • Feingold Syndrome
  • Fetal Alcohol Spectrum Disorders (FASD)
  • Fetal Isotretinoin Syndrome
  • FG Syndrome
  • Fibrodysplasia Ossificans Progressiva (FOP)
  • 46,XX Testicular Disorder of Sex Development
  • 47,XYY Syndrome
  • 48,XXYY Syndrome
  • Fragile X Syndrome
  • Freeman-Sheldon Syndrome
  • Friedreich Ataxia (FRDA)
  • Fryns Syndrome
  • Fucosidosis
  • Fumerase Deficiency
  • G
  • Galactosemia
  • Galactosialidosis
  • Gastroschisis
  • Gaucher Disease
  • Gene Therapy: A Special Topic
  • Genetic Counseling: A Special Topic
  • Genomic Testing: A Special Topic
  • Giant Axonal Neuropathy (GAN)
  • Gitelman Syndrome
  • Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD)
  • Glucose-Galactose Malabsorption (GGM)
  • GLUT1 Deficiency Syndrome
  • GM1 Gangliosidosis
  • Greig Cephalopolysyndactyly Syndrome (GCPS)
  • Guanidinoacetate Methyltransferase Deficiency
  • Gyrate Atrophy of the Choroid and Retina
  • H
  • Hand-Foot-Uterus Syndrome (HFU)
  • Harlequin Ichthyosis (HI)
  • Haw River Syndrome.
  • Hemifacial Microsomia (HFM)
  • Hemochromatosis
  • Hemolytic-Uremic Syndrome
  • Hemophilia
  • Hereditary Angioedema
  • Hereditary Antithrombin Deficiency (AT)
  • Hereditary Folate Malabsorption
  • Hereditary Hearing Disorders and Deafness: A Special Topic
  • Hereditary Hemorrhagic Telangiectasia (HHT)
  • Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC)
  • Hereditary Multiple Exostoses
  • Hereditary Neuralgic Amyotrophy (HNA)
  • Hereditary Pancreatitis
  • Hereditary Paraganglioma-Pheochromocytoma (Pheochromocytoma)
  • Hereditary Spherocytosis
  • Hermansky-Pudlak Syndrome
  • Holocarboxylase Synthetase Deficiency (HCSD)
  • Holt-Oram Syndrome (HOS)
  • Huntington Disease
  • Hutchinson-Gilford Progeria Syndrome (HGPS)
  • Hypercholesterolemia, Familial
  • Hypochondrogenesis
  • Hypochondroplasia (HCH)
  • Hypohidrotic Ectodermal Dysplasia (HED)
  • Hypophosphatemia
  • I
  • Inclusion Body Myopathy-2
  • Incontinentia Pigmenti (IP)
  • Infantile Neuroaxonal Dystrophy
  • Infantile Systemic Hyalinosis
  • Isovaleric Acidemia (IVA)
  • J
  • Jackson-Weiss Syndrome (JWS)
  • Jacobsen Syndrome
  • Jervell and Lange-Nielsen Syndrome (JLNS)
  • Jeune Syndrome (Asphyxiating Thoracic Dystrophy)
  • Job Syndrome
  • Joubert Syndrome
  • Juvenile Polyposis Syndrome (JPS)
  • Juvenile Primary Lateral Sclerosis
  • K
  • Kabuki Syndrome
  • Kallmann Syndrome
  • Kartagener Syndrome
  • Karyotyping: A Special Topic
  • Kawasaki Disease
  • Kearns-Sayre Syndrome (KSS)
  • Kennedy Disease (KD)
  • Kleefstra Syndrome
  • Klinefelter Syndrome
  • Klippel-Feil Syndrome
  • Kniest Dysplasia
  • Knobloch Syndrome
  • Krabbe Disease
  • Kufs Disease
  • VOLUME 2
  • L
  • L1 Syndrome
  • Lactose Intolerance
  • Lafora Progressive Myoclonus Epilepsy
  • Laing Distal Myopathy
  • Langer-Giedion Syndrome
  • Larsen Syndrome
  • Leber Hereditary Optic Neuropathy (LHON)
  • Legal and Ethical Issues: A Special Topic
  • Legius Syndrome
  • Leigh Syndrome
  • Lenz Microphthalmia Syndrome
  • LEOPARD Syndrome
  • Lesch-Nyhan Syndrome (LNS)
  • Li-Fraumeni Syndrome (LFS)
  • Lissencephaly
  • Lowe Syndrome
  • Lujan-Fryns Syndrome
  • Lymphedema-Distichiasis Syndrome
  • Lynch Syndrome/Hereditary Nonpolyposis Colorectal Cancer
  • M
  • Majeed Syndrome
  • Malignant Hyperthermia
  • Mannosidosis
  • Maple Syrup Urine Disease (MSUD)
  • Marfan Syndrome
  • MCAD Deficiency
  • McCune-Albright Syndrome
  • McKusick-Kaufman Syndrome (MKS)
  • Meckel-Gruber Syndrome
  • Melnick-Needles Syndrome
  • Ménière Disease
  • Menkes Syndrome
  • Metachromatic Leukodystrophy
  • Methylmalonic Acidemia (MMA)
  • Milroy Disease
  • Model Organisms: A Special Topic
  • Mowat-Wilson Syndrome
  • Muckle-Wells Syndrome
  • Mucopolysaccharidosis Type I
  • Multiple Endocrine Neoplasia
  • Multiple Epiphyseal Dysplasia
  • Myopathy, Centronuclear
  • Myotonic Dystrophy
  • N
  • Nail-Patella Syndrome
  • Nance-Insley Syndrome
  • Narcolepsy
  • Nephrogenic Diabetes Insipidus
  • Neurofibromatosis Type 1 (NF1)
  • Neurofibromatosis Type 2 (NF2)
  • Nevoid Basal Cell Carcinoma Syndrome
  • Newborn Screening: A Special Topic
  • Niemann-Pick Disease
  • Nijmegen Breakage Syndrome
  • Noonan Syndrome
  • Norrie Disease
  • O
  • Obesity: A Special Topic
  • Ocular Albinism
  • Oculodentodigital Dysplasia
  • Opitz G/BBB Syndrome
  • Oral-Facial-Digital Syndrome
  • Ornithine Transcarbamylase Deficiency
  • Ornithine Translocase Deficiency
  • Osler-Rendu-Weber Disease (OWRD)
  • Osteogenesis Imperfecta (OI)
  • Osteopetrosis
  • Oxalosis
  • P
  • Pachyonychia Congenita
  • Paget Disease of Bone
  • Pallister-Hall Syndrome
  • Pallister-Killian Mosaic Syndrome
  • Pantothenate Kinase-Associated Neurodegeneration (PKAN)
  • Paramyotonia Congenita
  • Parkinson Disease (PD)
  • Paroxysmal Nocturnal Hemoglobinuria
  • Patent Ductus Arteriosus (Char Syndrome)
  • Pelizaeus-Merzbacher Disease (PMD)
  • Pendred Syndrome
  • Periventricular Heterotopia
  • Peters Plus Syndrome
  • Peutz-Jeghers Syndrome (PJS)
  • Pfeiffer Syndrome
  • Phelan-McDermid Syndrome
  • Phenylketonuria (PKU)
  • Polycystic Kidney Disease (PKD)
  • Polycythemia Vera
  • Pompe Disease
  • Porphyrias
  • Prader-Willi Syndrome (PWS)
  • Primary Carnitine Deficiency
  • Prion Disease
  • Progressive Osseous Heteroplasia (POH)
  • Propionic Acidemia
  • Protein C Deficiency
  • Protein S Deficiency
  • Proteus Syndrome
  • Prothrombin Deficiency
  • Prune Belly Syndrome
  • Pseudoachondroplasia
  • Pseudoxanthoma Elasticum (PXE)
  • Psoriatic Arthritis
  • Pyridoxine-Dependent Epilepsy
  • Pyruvate Dehydrogenase Complex Deficiency
  • R
  • Recombinant 8 Syndrome
  • Refsum Disease
  • Renpenning Syndrome
  • Retinitis Pigmentosa (RP)
  • Retinoblastoma
  • Rett Syndrome
  • Rhizomelic Chondrodysplasia Punctata
  • Ring Chromosomes: A Special Topic
  • Robinow Syndrome
  • Rogers Syndrome
  • Romano-Ward Syndrome (RWS)
  • Rothmund-Thomson Syndrome (RTS)
  • Rubinstein-Taybi Syndrome
  • Russell-Silver Syndrome (RSS)
  • S
  • Saethre-Chotzen Syndrome
  • Schindler Disease
  • Schwartz-Jampel Syndrome (SJS)
  • Shprintzen-Goldberg Syndrome (SGS)
  • Sialidosis
  • Sickle-Cell Disease
  • Sjögren-Larsson Syndrome (SLS)
  • Smith-Fineman-Myers Syndrome (SFMS)
  • Smith-Lemli-Opitz Syndrome (SLOS)
  • Smith-Magenis Syndrome (SMS)
  • Sotos Syndrome
  • Spastic Paralysis, Infantile-Onset Ascending Hereditary
  • Spina Bifida
  • Spinal Muscular Atrophy (SMA)
  • Spinocerebellar Ataxia, Type 1
  • Spondyloepiphyseal Dysplasia Congenita (SED Congenita)
  • Stargardt Macular Degeneration
  • Stickler Syndrome
  • Systemic Scleroderma
  • T
  • Tangier Disease
  • TAR Syndrome (Thrombocytopenia-Absent Radius)
  • Tay-Sachs Disease (TSD)
  • Thanatophoric Dysplasia
  • 3-M Syndrome
  • Tourette Syndrome
  • Treacher Collins Syndrome
  • Triosephosphate Isomerase Deficiency (TPI Deficiency)
  • Triple X Syndrome
  • Trisomy 13 (Patau Syndrome)
  • Trisomy 18 (Edwards Syndrome)
  • Tuberous Sclerosis Complex
  • Turner Syndrome (TS)
  • U
  • Ullrich Congenital Muscular Dystrophy (UCMD)
  • Unverricht-Lundborg Disease (ULD)
  • Urea Cycle Disorders (UCD)
  • Uromodulin-Associated Kidney Disease
  • Usher Syndrome
  • V
  • VACTERL Association
  • Van der Woude Syndrome
  • Vitelliform Macular Dystrophy
  • Vitiligo
  • VLDLR-Associated Cerebellar Hypoplasia
  • Von Hippel–Lindau Syndrome
  • Von Willebrand Disease
  • W
  • Waardenburg Syndrome (WS)
  • Wagner Syndrome
  • Walker-Warburg Syndrome (WWS)
  • Weill-Marchesani Syndrome
  • Weissenbacher-Zweymüller Syndrome
  • Werner Syndrome
  • Williams Syndrome
  • Wilms Tumor and WAGR Syndrome
  • Wilson Disease (WD)
  • Wiskott-Aldrich Syndrome (WAS)
  • WNT4 Müllerian Aplasia and Ovarian Dysfunction
  • Wolf-Hirschhorn Syndrome (WHS)
  • Wolff-Parkinson-White Syndrome
  • Wolman Disease
  • X
  • X Chromosome: A Special Topic
  • Xeroderma Pigmentosum (XP)
  • X-Linked Adrenal Hypoplasia Congenital
  • X-Linked Adrenoleukodystrophy
  • X-Linked Agammaglobulinemia (XLA)
  • X-Linked Congenital Stationary Night Blindness
  • X-Linked Creatine Deficiency
  • X-Linked Dystonia-Parkinsonism
  • X-Linked Hyper IgM Syndrome
  • X-Linked Infantile Nystagmus
  • X-Linked Juvenile Retinoschisis
  • X-Linked Lymphoproliferative Disease (XLP)
  • X-Linked Myotubular Myopathy
  • X-Linked Severe Combined Immunodeficiency
  • X-Linked Sideroblastic Anemia
  • X-Linked Sideroblastic Anemia and Ataxia
  • Y
  • Y Chromosome: A Special Topic
  • Y Chromosome Infertility
  • Z
  • ZAP70-Related Severe Combined Immunodeficiency (ZAP70-Related SCID)
  • Zellweger Syndrome
  • Helpful Resources about Genetic Disorders
  • About the Author