eBook Encyclopedia of Human Genetics and Disease, 1st Edition

  • Evelyn B. Kelly
  • Published By:
  • ISBN-10: 0313387141
  • ISBN-13: 9780313387142
  • DDC: 616.04203
  • Grade Level Range: 9th Grade - College Senior
  • 830 Pages | eBook
  • Original Copyright 2012 | Published/Released March 2013
  • This publication's content originally published in print form: 2012
  • Price:  Sign in for price

About

Overview

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.

Table of Contents

Front Cover.
Half Title Page.
Title Page.
Copyright Page.
Contents.
Introduction.
Overviews.
Genetic Disorders 101.
Proteomics 101.
The Genome and the Foundations of Genetics, with Timelines.
Diseases, Disorders, and Special Topics.
1: Aarskog-Scott Syndrome (AS).
2: Aase-Smith Syndrome.
3: Achondroplasia.
4: ACHOO Syndrome.
5: Achromatopsia.
6: Acoustic Neuroma.
7: Acute Promyelocytic Leukemia.
8: Adenosine Deaminase Deficiency.
9: Age-Related Macular Degeneration (AMD).
10: Aging and Genetics: A Special Topic.
11: Aicardi-Goutieres Syndrome (AGS).
12: Alagille Syndrome.
13: Albinism.
14: Alexander Disease.
15: Alkaptonuria.
16: Allan-Herndon-Dudley Syndrome.
17: Alpha-1 Antitrypsin Deficiency (A1AT).
18: Alpha Thalassemia.
19: Alport Syndrome.
20: Alzheimer Disease (AD).
21: Amyotrophic Lateral Sclerosis (ALS).
22: Androgen Insensitivity Syndrome.
23: Androgenetic Alopecia.
24: Angelman Syndrome (AS).
25: Ankylosing Spondylitis (AS).
26: Apert Syndrome.
27: Arts Syndrome.
28: Autism/Autism Spectrum Disorders.
29: Bardet-Biedl Syndrome.
30: Bassen-Kornzweig Syndrome.
31: Batten Disease.
32: Beare-Stevenson Cutis Gyrata Syndrome.
33: Beckwith-Wiedemann Syndrome (BWS).
34: Behçet Disease.
35: Berardinelli-Seip Congenital Lipodystrophy.
36: Beta Thalassemia.
37: Bloom Syndrome.
38: Boomerang Dysplasia.
39: Breast Cancer Genetics: A Special Topic.
40: Bruton Agammaglobulinemia.
41: Burger-Grutz Syndrome.
42: Cadasil.
43: Campomelic Dysplasia.
44: Camurati-Englemann Disease.
45: Canavan Disease.
46: Carney Complex.
47: Celiac Disease.
48: Cerebrotendinous Xanthomatosis.
49: Charcot-Marie-Tooth Disease.
50: CHARGE Syndrome.
51: Chediak-Higashi Syndrome (CHS).
52: Cockayne Syndrome.
53: Coffin-Lowry Syndrome (CLS).
54: Collagen: A Special Topic.
55: Congenital Hypertrichosis.
56: Cornelia de Lange Syndrome (CdLS).
57: Costello Syndrome (CS).
58: Cowden Syndrome (CS).
59: Cri-du-Chat Syndrome.
60: Crohn Disease.
61: Crouzon Syndrome.
62: Cyclic Vomiting Syndrome (CVS).
63: Cystic Fibrosis (CF).
64: Dandy-Walker Syndrome (DWS).
65: Danon Disease.
66: Darier Disease (DAR).
67: Dentatorubral-Pallidoluysian Atrophy (DRPLA).
68: Diabetic Embryopathy.
69: Diamond-Blackfan Anemia (DBA).
70: Diastrophic Dysplasia.
71: Donnai-Barrow Syndrome.
72: Down Syndrome (DS).
73: Duane-Radial Ray Syndrome.
74: Duchenne/Becker Muscular Dystrophy.
75: Dystrophic Epidermolysis Bullosa (EB).
76: Early-Onset Glaucoma.
77: Early-Onset Primary Dystonia.
78: Ehlers-Danlos Syndrome (EDS).
79: Ellis–Van Creveld Syndrome.
80: Emanuel Syndrome.
81: Embryology: A Special Topic.
82: Embryopathies: A Special Topic.
83: Emery-Dreifuss Muscular Dystrophy (EDMD).
84: Epidermal Nevus and Epidermal Nevus Syndrome.
85: Epilepsy.
86: Erythromelalgia (EM).
87: Essential Tremor (ET).
88: Eugenics: A Special Topic.
89: Fabry Disease.
90: Facioscapulohumeral Muscular Dystrophy (FSHMD).
91: Factor V Leiden Thrombophilia.
92: Fahr Disease.
93: Familial Adenomatous Polyposis (FAP).
94: Familial Atrial Fibrillation (AF).
95: Familial Cold Autoinflammatory Syndrome.
96: Familial Dysautonomia (FD).
97: Fanconi Anemia.
98: Fanconi Syndrome.
99: Feingold Syndrome.
100: Fetal Alcohol Spectrum Disorders (FASD).
101: Fetal Isotretinoin Syndrome.
102: FG Syndrome.
103: Fibrodysplasia Ossificans Progressiva (FOP).
104: 46,XX Testicular Disorder of Sex Development.
105: 47,XYY Syndrome.
106: 48,XXYY Syndrome.
107: Fragile X Syndrome.
108: Freeman-Sheldon Syndrome.
109: Friedreich Ataxia (FRDA).
110: Fryns Syndrome.
111: Fucosidosis.
112: Fumerase Deficiency.
113: Galactosemia.
114: Galactosialidosis.
115: Gastroschisis.
116: Gaucher Disease.
117: Gene Therapy: A Special Topic.
118: Genetic Counseling: A Special Topic.
119: Genomic Testing: A Special Topic.
120: Giant Axonal Neuropathy (GAN).
121: Gitelman Syndrome.
122: Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD).
123: Glucose-Galactose Malabsorption (GGM).
124: GLUT1 Deficiency Syndrome.
125: GM1 Gangliosidosis.
126: Greig Cephalopolysyndactyly Syndrome (GCPS).
127: Guanidinoacetate Methyltransferase Deficiency.
128: Gyrate Atrophy of the Choroid and Retina.
129: Hand-Foot-Uterus Syndrome (HFU).
130: Harlequin Ichthyosis (HI).
131: Hemifacial Microsomia (HFM).
132: Hemochromatosis.
133: Hemolytic-Uremic Syndrome.
134: Hemophilia.
135: Hereditary Angioedema.
136: Hereditary Antithrombin Deficiency (AT).
137: Hereditary Folate Malabsorption.
138: Hereditary Hearing Disorders and Deafness: A Special Topic.
139: Hereditary Hemorrhagic Telangiectasia (HHT).
140: Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC).
141: Hereditary Multiple Exostoses.
142: Hereditary Neuralgic Amyotrophy (HNA).
143: Hereditary Pancreatitis.
144: Hereditary Paraganglioma-Pheochromocytoma (Pheochromocytoma).
145: Hereditary Spherocytosis.
146: Hermansky-Pudlak Syndrome.
147: Holocarboxylase Synthetase Deficiency (HCSD).
148: Holt-Oram Syndrome (HOS).
149: Huntington Disease.
150: Hutchinson-Gilford Progeria Syndrome (HGPS).
151: Hypercholesterolemia, Familial.
152: Hypochondrogenesis.
153: Hypochondroplasia (HCH).
154: Hypohidrotic Ectodermal Dysplasia (HED).
155: Hypophosphatemia.
156: Inclusion Body Myopathy-2.
157: Incontinentia Pigmenti (IP).
158: Infantile Neuroaxonal Dystrophy.
159: Infantile Systemic Hyalinosis.
160: Isovaleric Acidemia (IVA).
161: Jackson-Weiss Syndrome (JWS).
162: Jacobsen Syndrome.
163: Jervell and Lange-Nielsen Syndrome (JLNS).
164: Jeune Syndrome (Asphyxiating Thoracic Dystrophy).
165: Job Syndrome.
166: Joubert Syndrome.
167: Juvenile Polyposis Syndrome (JPS).
168: Juvenile Primary Lateral Sclerosis.
169: Kabuki Syndrome.
170: Kallmann Syndrome.
171: Kartagener Syndrome.
172: Karyotyping: A Special Topic.
173: Kawasaki Disease.
174: Kearns-Sayre Syndrome (KSS).
175: Kennedy Disease (KD).
176: Kleefstra Syndrome.
177: Klinefelter Syndrome.
178: Klippel-Feil Syndrome.
179: Kniest Dysplasia.
180: Knobloch Syndrome.
181: Krabbe Disease.
182: Kufs Disease.
Half Title Page.
Title Page.
Diseases, Disorders, and Special Topics.
1: L1 Syndrome.
2: Lactose Intolerance.
3: Lafora Progressive Myoclonus Epilepsy.
4: Laing Distal Myopathy.
5: Langer-Giedion Syndrome.
6: Larsen Syndrome.
7: Leber Hereditary Optic Neuropathy (LHON).
8: Legal and Ethical Issues: A Special Topic.
9: Legius Syndrome.
10: Leigh Syndrome.
11: Lenz Microphthalmia Syndrome.
12: LEOPARD Syndrome.
13: Lesch-Nyhan Syndrome (LNS).
14: Li-Fraumeni Syndrome (LFS).
15: Lissencephaly.
16: Lowe Syndrome.
17: Lujan-Fryns Syndrome.
18: Lymphedema-Distichiasis Syndrome.
19: Lynch Syndrome/Hereditary Nonpolyposis Colorectal Cancer.
20: Majeed Syndrome.
21: Malignant Hyperthermia.
22: Mannosidosis.
23: Maple Syrup Urine Disease (MSUD).
24: Marfan Syndrome.
25: MCAD Deficiency.
26: McCune-Albright Syndrome.
27: McKusick-Kaufman Syndrome (MKS).
28: Meckel-Gruber Syndrome.
29: Melnick-Needles Syndrome.
30: Ménière Disease.
31: Menkes Syndrome.
32: Metachromatic Leukodystrophy.
33: Methylmalonic Acidemia (MMA).
34: Milroy Disease.
35: Model Organisms: A Special Topic.
36: Mowat-Wilson Syndrome.
37: Muckle-Wells Syndrome.
38: Mucopolysaccharidosis Type I.
39: Multiple Endocrine Neoplasia.
40: Multiple Epiphyseal Dysplasia.
41: Myopathy, Centronuclear.
42: Myotonic Dystrophy.
43: Nail-Patella Syndrome.
44: Nance-Insley Syndrome.
45: Narcolepsy.
46: Nephrogenic Diabetes Insipidus.
47: Neurofibromatosis Type 1 (NF1).
48: Neurofibromatosis Type 2 (NF2).
49: Nevoid Basal Cell Carcinoma Syndrome.
50: Newborn Screening: A Special Topic.
51: Niemann-Pick Disease.
52: Nijmegen Breakage Syndrome.
53: Noonan Syndrome.
54: Norrie Disease.
55: Obesity: A Special Topic.
56: Ocular Albinism.
57: Oculodentodigital Dysplasia.
58: Opitz G/BBB Syndrome.
59: Oral-Facial-Digital Syndrome.
60: Ornithine Transcarbamylase Deficiency.
61: Ornithine Translocase Deficiency.
62: Osler-Rendu-Weber Disease (OWRD).
63: Osteogenesis Imperfecta (OI).
64: Osteopetrosis.
65: Oxalosis.
66: Pachyonychia Congenita.
67: Paget Disease of Bone.
68: Pallister-Hall Syndrome.
69: Pallister-Killian Mosaic Syndrome.
70: Pantothenate Kinase-Associated Neurodegeneration (PKAN).
71: Paramyotonia Congenita.
72: Parkinson Disease (PD).
73: Paroxysmal Nocturnal Hemoglobinuria.
74: Patent Ductus Arteriosus (Char Syndrome).
75: Pelizaeus-Merzbacher Disease (PMD).
76: Pendred Syndrome.
77: Periventricular Heterotopia.
78: Peters Plus Syndrome.
79: Peutz-Jeghers Syndrome (PJS).
80: Pfeiffer Syndrome.
81: Phelan-McDermid Syndrome.
82: Phenylketonuria (PKU).
83: Polycystic Kidney Disease (PKD).
84: Polycythemia Vera.
85: Pompe Disease.
86: Porphyrias.
87: Prader-Willi Syndrome (PWS).
88: Primary Carnitine Deficiency.
89: Prion Disease.
90: Progressive Osseous Heteroplasia (POH).
91: Propionic Acidemia.
92: Protein C Deficiency.
93: Protein S Deficiency.
94: Proteus Syndrome.
95: Prothrombin Deficiency.
96: Prune Belly Syndrome.
97: Pseudoachondroplasia.
98: Pseudoxanthoma Elasticum (PXE).
99: Psoriatic Arthritis.
100: Pyridoxine-Dependent Epilepsy.
101: Pyruvate Dehydrogenase Complex Deficiency.
102: Recombinant 8 Syndrome.
103: Refsum Disease.
104: Renpenning Syndrome.
105: Retinitis Pigmentosa (RP).
106: Retinoblastoma.
107: Rett Syndrome.
108: Rhizomelic Chondrodysplasia Punctata.
109: Ring Chromosomes: A Special Topic.
110: Robinow Syndrome.
111: Rogers Syndrome.
112: Romano-Ward Syndrome (RWS).
113: Rothmund-Thomson Syndrome (RTS).
114: Rubinstein-Taybi Syndrome.
115: Russell-Silver Syndrome (RSS).
116: Saethre-Chotzen Syndrome.
117: Schindler Disease.
118: Schwartz-Jampel Syndrome (SJS).
119: Shprintzen-Goldberg Syndrome (SGS).
120: Sialidosis.
121: Sickle-Cell Disease.
122: Sjögren-Larsson Syndrome (SLS).
123: Smith-Fineman-Myers Syndrome (SFMS).
124: Smith-Lemli-Opitz Syndrome (SLOS).
125: Smith-Magenis Syndrome (SMS).
126: Sotos Syndrome.
127: Spastic Paralysis, Infantile-Onset Ascending Hereditary.
128: Spina Bifida.
129: Spinal Muscular Atrophy (SMA).
130: Spinocerebellar Ataxia, Type 1.
131: Spondyloepiphyseal Dysplasia Congenita (SED Congenita).
132: Stargardt Macular Degeneration.
133: Stickler Syndrome.
134: Systemic Scleroderma.
135: Tangier Disease.
136: TAR Syndrome (Thrombocytopenia-Absent Radius).
137: Tay-Sachs Disease (TSD).
138: Thanatophoric Dysplasia.
139: 3-M Syndrome.
140: Tourette Syndrome.
141: Treacher Collins Syndrome.
142: Triosephosphate Isomerase Deficiency (TPI Deficiency).
143: Triple X Syndrome.
144: Trisomy 13 (Patau Syndrome).
145: Trisomy 18 (Edwards Syndrome).
146: Tuberous Sclerosis Complex.
147: Turner Syndrome (TS).
148: Ullrich Congenital Muscular Dystrophy (UCMD).
149: Unverricht-Lundborg Disease (ULD).
150: Urea Cycle Disorders (UCD).
151: Uromodulin-Associated Kidney Disease.
152: Usher Syndrome.
153: VACTERL Association.
154: Van der Woude Syndrome.
155: Vitelliform Macular Dystrophy.
156: Vitiligo.
157: VLDLR-Associated Cerebellar Hypoplasia.
158: Von Hippel–Lindau Syndrome.
159: Von Willebrand Disease.
160: Waardenburg Syndrome (WS).
161: Wagner Syndrome.
162: Walker-Warburg Syndrome (WWS).
163: Weill-Marchesani Syndrome.
164: Weissenbacher-Zweymüller Syndrome.
165: Werner Syndrome.
166: Williams Syndrome.
167: Wilms Tumor and WAGR Syndrome.
168: Wilson Disease (WD).
169: Wiskott-Aldrich Syndrome (WAS).
170: WNT4 Müllerian Aplasia and Ovarian Dysfunction.
171: Wolf-Hirschhorn Syndrome (WHS).
172: Wolff-Parkinson-White Syndrome.
173: Wolman Disease.
174: X Chromosome: A Special Topic.
175: Xeroderma Pigmentosum (XP).
176: X-Linked Adrenal Hypoplasia Congenital.
177: X-Linked Adrenoleukodystrophy.
178: X-Linked Agammaglobulinemia (XLA).
179: X-Linked Congenital Stationary Night Blindness.
180: X-Linked Creatine Deficiency.
181: X-Linked Dystonia-Parkinsonism.
182: X-Linked Hyper IgM Syndrome.
183: X-Linked Infantile Nystagmus.
184: X-Linked Juvenile Retinoschisis.
185: X-Linked Lymphoproliferative Disease (XLP).
186: X-Linked Myotubular Myopathy.
187: X-Linked Severe Combined Immunodeficiency.
188: X-Linked Sideroblastic Anemia.
189: X-Linked Sideroblastic Anemia and Ataxia.
190: Y Chromosome: A Special Topic.
191: Y Chromosome Infertility.
192: ZAP70-Related Severe Combined Immunodeficiency (ZAP70-Related SCID).
193: Zellweger Syndrome.
Helpful Resources about Genetic Disorders.
About the Author.
Index.