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基本説明
Features nearly 400 entries, including well-known genetic diseases, rare and lesser-known genetic diseases, and the genetic factors that may contribute to common diseases and health conditions, such as breast cancer and obesity.
Full Description
This two-volume encyclopedia examines the history, characteristics, causes, and treatment of genetic disease, as well as the science of genetics itself.
Modern science has unlocked many of the mysteries of genetics, providing a blueprint for understanding the origins behind previously mysterious ailments and conditions, both common and uncommon. A complete understanding remains elusive, however: geneticists are still refining theories about what causes chromosomes to mutate, and genetic diseases remain difficult to diagnose and challenging to treat. This fascinating reference explores the scientific and human aspects of this complex field of science.
Encyclopedia of Human Genetics and Disease features nearly 400 entries, including well-known genetic diseases, rare and lesser-known genetic diseases, and the genetic factors that may contribute to common diseases and health conditions, such as breast cancer and obesity. The author presents in-depth discussions of concepts essential to understanding genetic disease in 18 entries that provide background on key topics, such as "Genetics 101," the genome and the foundations of genetics, genetic counseling, and newborn screening. Each of the 355 disorders profiled provides the history of the condition, its prevalence, causes, treatment (if any), and further reading. Interesting sidebars and compelling photos that help inform content accompany many entries.
Contents
VOLUME 1
Introduction
Overviews
Genetic Disorders 101,
Proteomics 101,
The Genome and the Foundations of Genetics, with Timelines,
Diseases, Disorders, and Special Topics
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
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
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)
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)
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
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
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
Hand-Foot-Uterus Syndrome (HFU)
Harlequin Ichthyosis (HI)
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
Inclusion Body Myopathy-2
Incontinentia Pigmenti (IP)
Infantile Neuroaxonal Dystrophy
Infantile Systemic Hyalinosis
Isovaleric Acidemia (IVA)
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
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
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
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
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
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
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
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)
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
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)
Ullrich Congenital Muscular Dystrophy (UCMD)
Unverricht-Lundborg Disease (ULD)
Urea Cycle Disorders (UCD)
Uromodulin-Associated Kidney Disease
Usher Syndrome
VACTERL Association
Van der Woude Syndrome
Vitelliform Macular Dystrophy
Vitiligo
VLDLR-Associated Cerebellar Hypoplasia
Von Hippel-Lindau Syndrome
Von Willebrand Disease
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 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 Chromosome: A Special Topic
Y Chromosome Infertility
ZAP70-Related Severe Combined Immunodeficiency (ZAP70-Related SCID)
Zellweger Syndrome
Helpful Resources about Genetic Disorders,
About the Author,
Index,
