Encyclopedia of Human Genetics and Disease
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.
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