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OMMBID Abstracts
		The Online Metabolic & Molecular Bases of Inherited Disease Editors: David Valle, Arthur L. Beaudet, Bert Vogelstein, Kenneth W. Kinzler, Stylianos E. Antonarakis, Andrea Ballabio Editors Emeritus: Charles R. Scriver, William S. Sly, Barton Childs Part Editors: Fred Bunz, K. Michael Gibson, Grant Mitchel

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Part 1. Introduction

Part 2. Perspectives

Part 3. General Themes

Part 4. Cancer

Part 5. Chromosomes

Part 6. Diagnostic Approaches

Part 7. Carbohydrates

Part 8. Amino Acids

Part 9. Organic Acids

Part 10. Disorders of Mitochondrial Function

Part 11. Purines and Pyrimidines

Part 12. Lipids

Part 13. Porphyrins

Part 14. Metals

Part 15. Peroxisomes

Part 16. Lysosomal Disorders

Part 17. Vitamins

Part 18. Hormones

Part 19. Blood

Part 20. Immune and Defense Systems

Part 21. Membrane Transport Disorders

Part 22. Connective Tissue

Part 23. Cardiovascular System

Part 24. Kidney

Part 25. Muscle

Part 26. Lung

Part 27. Skin

Part 28. Neurogenetics

Part 29. Eye

Part 30. Multisystem Inborn Errors of Development

Part 31. The Genetics of Complex Disease

Chapter 1	Genetics, Biochemistry, and Molecular Bases of Variant Human Phenotypes
Chapter 1.1	Morbid Anatomy of the Human Genome
Chapter 1.2	Mutation Databases: Overview and Catalogues
Chapter 1.3	The Human Gene Mutation Database (HGMD)

Chapter 2	A Logic of Disease
Chapter 2.1	Genetic: One Word, Several Meanings
Chapter 3	The Inborn Error and Biochemical Individuality
Chapter 3.1	Metabolism and Metabolic Disease Resources on the Web
Chapter 4	The Effect of Mendelian Disease on Human Health
Chapter 5	Treatment of Genetic Disease
Chapter 5.1	The Adult Patient with Hereditary Metabolic Disease
Chapter 5.2	Gene Therapy of Human Inherited Diseases
Chapter 6	Multifactorial Diseases: Ancient Gene Polymorphism at Quantitative Trait Loci and a Legacy of Survival during Our Evolution
Chapter 7	Genes and Susceptibility to Infectious Diseases
Chapter 8	Genetics and Aging
Chapter 9	Pharmacogenetics

Chapter 10	The Human Genome Project and Its Impact on the Study of Human Disease
Chapter 11	Population Genetics
Chapter 12	The Role of Human Major Histocompatibility Complex (HLA) Genes in Disease
Chapter 13	The Nature and Mechanisms of Human Gene Mutation
Chapter 13.1	Protein Folding and Misfolding: The Role of Cellular Protein Quality Control Systems in Inherited Disorders
Chapter 14	Mouse Models of Human Genetic Disorders
Chapter 15	Genome Imprinting in Human Disease
Chapter 16	The Biogenesis of Membranes and Organelles

Chapter 17	Introduction to Cancer Genetics Chapters
Section 1: Basic Concepts in Cancer Genetics
Chapter 18	Genomic Imprinting and Cancer
Chapter 18.1	DNA Methylation and Epigenetic Silencing of Genes in Cancer
Chapter 19	Genes Altered by Chromosomal Translocations in Leukemias and Lymphomas
Chapter 20	Chromosome Alterations in Human Solid Tumors
Chapter 21	Gene Amplification in Human Cancers: Biological and Clinical Significance
Chapter 21.1	Gene Expression Profiling in Cancer
Chapter 22	Tumor Genome Instability
Section 2: Controls on Cell Cycle
Chapter 23	Cell Cycle Control: An Overview
Chapter 24	Apoptosis and Cancer
Chapter 25	Oncogenes
Chapter 26	Tumor-Suppressor Genes
Section 3: Familial Cancer Syndromes, I. Overview
Chapter 27	Familial Cancer Syndromes: The Role of Caretakers and Gatekeepers
Section 4: Familial Cancer Syndromes, II. Defects in Caretakers
Chapter 28	Nucleotide Excision Repair Syndromes: Xeroderma Pigmentosum, Cockayne Syndrome, and Trichothiodystrophy
Chapter 29	Ataxia-Telangiectasia
Chapter 30	Bloom Syndrome
Chapter 31	Fanconi Anemia
Chapter 32	Hereditary Nonpolyposis Colorectal Cancer (HNPCC)
Chapter 33	Werner Syndrome
Chapter 34	Peutz-Jeghers Syndrome
Chapter 35	Juvenile Polyposis Syndrome
Section 5: Familial Cancer Syndromes, III. Defects in Gatekeepers
Chapter 36	Retinoblastoma
Chapter 37	Li-Fraumeni Syndrome
Chapter 38	Wilms Tumor
Chapter 39	Neurofibromatosis 1
Chapter 40	Neurofibromatosis 2
Chapter 40.1	Hereditary Paragangliomas of the Head and Neck
Chapter 41	Renal Carcinoma
Chapter 41.1	The Birt-Hogg-Dubé Syndrome
Chapter 42	Multiple Endocrine Neoplasia Type 2
Chapter 43	Multiple Endocrine Neoplasia Type 1
Chapter 44	Malignant Melanoma
Chapter 45	Cowden Syndrome
Chapter 46	Skin Cancer (Including Nevoid Basal Cell Carcinoma Syndrome)
Chapter 46.1	Familial Cylindromatosis
Chapter 47	Breast Cancer
Chapter 47.1	Familial Cardiac Myxomas and Carney Complex
Chapter 48	Colorectal Tumors
Section 6: Familial Cancer Syndromes, IV. Managing Familial Cancer Syndromes
Chapter 49	Genetic Testing for Familial Cancer
Section 7: Cancer by Site
Chapter 50	Pancreatic Cancer
Chapter 51	Ovarian Cancer
Chapter 52	Endometrial Cancer
Chapter 53	Cervical Cancer
Chapter 54	Bladder Cancer
Chapter 55	Stomach Cancer
Chapter 56	Prostate Cancer
Chapter 57	Brain Tumors
Chapter 57.1	Cancers of the Oral Cavity and Pharynx
Chapter 58	Lung Cancer
Chapter 59	Hepatocellular Carcinoma
Chapter 59.1	Genetic Abnormalities in Lymphoid Malignancies
Chapter 59.2	The Classic Myeloproliferative Neoplasms: Chronic Myelogenous Leukemia, Polycythemia Vera, Essential Thrombocythemia, and Primary Myelofibrosis
Chapter 60	Clinical and Biological Aspects of Neuroblastoma
Chapter 60.1	Pilomatricoma and Pilomatrix Carcinoma

Chapter 61	The Sex Chromosomes and X Chromosome Inactivation
Chapter 62	Sry and Primary Sex-Reversal Syndromes
Chapter 63	Down Syndrome (Trisomy 21)
Chapter 64	The Fragile X Syndrome
Chapter 65	Molecular Cytogenetics of Contiguous Gene Syndromes: Mechanisms and Consequences of Gene Dosage Imbalance

Chapter 67	β-Cell Dysfunction in Type 2 Diabetes: Pathophysiological and Genetic Bases
Chapter 68	Insulin Action, Insulin Resistance, and Type 2 Diabetes Mellitus
Chapter 69	Type 1 Diabetes
Chapter 70	Disorders of Fructose Metabolism
Chapter 71	Glycogen Storage Diseases
Chapter 72	Galactosemia
Chapter 73	Pentosuria
Chapter 73S	Ribose-5-Phosphate Isomerase Deficiency and Transaldolase Deficiency
Chapter 74	Defects of N-Glycan Synthesis
Chapter 75	Small-Intestinal Disaccharidases
Chapter 76	Genetic Polymorphism of Intestinal Lactase Activity in Adult Humans

Chapter 77	Hyperphenylalaninemia: Phenylalanine Hydroxylase Deficiency
Chapter 78	Disorders of Tetrahydrobiopterin and Related Biogenic Amines
Chapter 79	Hypertyrosinemia
Chapter 80	Disorders of Histidine Metabolism
Chapter 81	Disorders of Proline and Hydroxyproline Metabolism
Chapter 82	Prolidase Deficiency
Chapter 83	The Hyperornithinemias
Chapter 84	Guanidinoacetate Methyltransferase Deficiency
Chapter 85	Urea Cycle Enzymes
Chapter 86	Errors of Lysine Metabolism
Chapter 86.1	Pyridoxine-Dependent Epilepsy Due to α-Aminoadipic Semialdehyde Dehydrogenase (Antiquitin) Deficiency
Chapter 87	Maple Syrup Urine Disease (Branched-Chain Ketoaciduria)
Chapter 88	Disorders of Transsulfuration
Chapter 88.1	Trimethylaminuria and Deficiency of Flavin-Containing Monooxygenase Type 3 (FMO3)
Chapter 89	Sarcosinemia
Chapter 90	Nonketotic Hyperglycinemia
Chapter 90.1	Serine Deficiency Disorders
Chapter 91	Disorders of β- and γ-Amino Acids in Free and Peptide-Linked Forms

Chapter 92	Alkaptonuria
Chapter 93	Branched Chain Organic Acidurias
Chapter 94	Disorders of Propionate and Methylmalonate Metabolism
Chapter 95	Organic Acidemias Due to Defects in Lysine Oxidation: 2-Ketoadipic Acidemia and Glutaric Acidemia
Chapter 96	Glutathione Synthetase Deficiency and Other Disorders of the γ-Glutamyl Cycle
Chapter 97	Disorders of Glycerol Metabolism
Chapter 98	SjöGren-Larsson Syndrome: Fatty Aldehyde Dehydrogenase Deficiency

Chapter 99	Clinical Presentation of Respiratory Chain Deficiency
Chapter 100	Lactic Acidemia: Disorders of Pyruvate Carboxylase and Pyruvate Dehydrogenase
Chapter 101	Mitochondrial Fatty Acid Oxidation Disorders
Chapter 101.1	Plasma Membrane Carnitine Transporter Defect
Chapter 102	Inborn Errors of Ketone Body Metabolism
Chapter 103	Defects of Electron Transfer Flavoprotein and Electron Transfer Flavoprotein-Ubiquinone Oxidoreductase: Glutaric Acidemia Type II
Chapter 104	Oxidative Phosphorylation Diseases
Chapter 105	Mitochondria and Neuro-Ophthalmologic Diseases

Chapter 106	Hyperuricemia and Gout
Chapter 107	Lesch-Nyhan Disease and Its Variants
Chapter 108	Adenine Phosphoribosyltransferase Deficiency and 2,8-Dihydroxyadenine Lithiasis
Chapter 109	Immunodeficiency Diseases Caused by Adenosine Deaminase Deficiency and Purine Nucleoside Phosphorylase Deficiency
Chapter 110	Myoadenylate Deaminase Deficiency
Chapter 111	Xanthine Oxidoreductase-Role in Human Pathophysiology and in Hereditary Xanthinuria
Chapter 112	Adenylosuccinate Lyase Deficiency
Chapter 113	Hereditary Orotic Aciduria and Other Disorders of Pyrimidine Metabolism

Chapter 114	Introduction: Structure and Metabolism of Plasma Lipoproteins
Chapter 115	Disorders of the Biogenesis and Secretion of Lipoproteins Containing the B Apolipoproteins
Chapter 116	Lipoprotein(a)
Chapter 117	Familial Lipoprotein Lipase Deficiency, Apo C-II Deficiency, and Hepatic Lipase Deficiency
Chapter 118	Lecithin Cholesterol Acyltransferase Deficiency and Fish Eye Disease
Chapter 119	Type III Hyperlipoproteinemia (Dysbetalipoproteinemia): The Role of Apolipoprotein E in Normal and Abnormal Lipoprotein Metabolism
Chapter 120	Familial Hypercholesterolemia
Chapter 121	Genetic Disorders Affecting Plasma High-Density Lipoproteins
Chapter 122	Familial Analphalipoproteinemia: Tangier Disease
Chapter 123	Inborn Errors in Bile Acid Biosynthesis and Storage of Sterols Other Than Cholesterol

Chapter 124	Disorders of Heme Biosynthesis: X-Linked Sideroblastic Anemia and the Porphyrias
Chapter 125	Hereditary Jaundice and Disorders of Bilirubin Metabolism

Chapter 126	Disorders of Copper Transport
Chapter 127	Hereditary Hemochromatosis
Chapter 128	Molybdenum Cofactor Deficiency and Isolated Sulfite Oxidase Deficiency

Chapter 129	The Peroxisome Biogenesis Disorders
Chapter 130	Single Peroxisomal Enzyme Deficiencies
Chapter 131	X-Linked Adrenoleukodystrophy
Chapter 132	Refsum Disease
Chapter 133	Primary Hyperoxaluria

Chapter 134	Sphingolipid Activator Proteins
Chapter 135	Glycogen Storage Disease Type II: Acid α-Glucosidase (Acid Maltase) Deficiency
Chapter 136	The Mucopolysaccharidoses
Chapter 137	Pycnodysostosis: Cathepsin K Deficiency
Chapter 138	I-Cell Disease and Pseudo-Hurler Polydystrophy: Disorders of Lysosomal Enzyme Phosphorylation and Localization
Chapter 138.1	Mucolipidosis Type IV
Chapter 139	α-N-Acetylgalactosaminidase Deficiency: Schindler Disease
Chapter 140	Disorders of Glycoprotein Degradation: α-Mannosidosis, β-Mannosidosis, Fucosidosis, and Sialidosis
Chapter 141	Aspartylglucosaminuria
Chapter 142	Acid Lipase Deficiency: Wolman Disease and Cholesteryl Ester Storage Disease
Chapter 143	Acid Ceramidase Deficiency: Farber Lipogranulomatosis
Chapter 144	Niemann-Pick Disease Types A and B: Acid Sphingomyelinase Deficiencies
Chapter 145	Niemann-Pick Disease Type C: A Lipid Trafficking Disorder
Chapter 146	Gaucher Disease
Chapter 146.1	Gaucher Disease: Phenotypic and Genetic Variation
Chapter 147	Galactosylceramide Lipidosis: Globoid Cell Leukodystrophy (Krabbe Disease)
Chapter 148	Metachromatic Leukodystrophy
Chapter 149	Multiple Sulfatase Deficiency and the Nature of the Sulfatase Family
Chapter 150	α-Galactosidase A Deficiency: Fabry Disease
Chapter 151	β-Galactosidase Deficiency (β-Galactosidosis): G_M1 Gangliosidosis and Morquio B Disease
Chapter 152	Galactosialidosis
Chapter 153	The G_M2
Chapter 154	The Neuronal Ceroid Lipofuscinoses
Chapter 154.1	Autophagy and Human Genetic Disease

Chapter 155	Inherited Disorders of Folate and Cobalamin Transport and Metabolism
Chapter 156	Disorders of Biotin Metabolism
Chapter 156.1	Vitamin B6 Metabolism and Inborn Errors

Chapter 157	Obesity
Chapter 158	Thyroid Disorders
Chapter 159	Congenital Adrenal Hyperplasia
Chapter 160	The Androgen Resistance Syndromes: Steroid 5α-Reductase 2 Deficiency, Testicular Feminization, and Related Disorders
Chapter 161	Spinobulbar Muscular Atrophy
Chapter 162	Inherited Defects in Growth Hormone Synthesis and Action
Chapter 163	Nephrogenic Diabetes Insipidus
Chapter 164	Pseudohypoparathyroidism
Chapter 165	Vitamin D and Other Calciferols
Chapter 166	Steroid Sulfatase Deficiency and X-Linked Ichthyosis
Chapter 167	Adrenal Hypoplasias and Aplasias
Chapter 168	Nitric Oxide Synthases

Chapter 169	Introduction to Hemostasis and the Vitamin K-Dependent Coagulation Factors
Chapter 170	Anticoagulant Protein C/Thrombomodulin Pathway
Chapter 171	Disorders of Fibrinogen and Factor XIII
Chapter 172	Hemophilia A: Deficiency of Coagulation Factor VIII
Chapter 173	Hemophilia B: Factor IX Deficiency
Chapter 174	von Willebrand Disease
Chapter 175	Factor XI and the Contact System
Chapter 176	Antithrombin Deficiency
Chapter 177	Inherited Disorders of Platelets
Chapter 178	Disorders of the Fibrinolytic System
Chapter 179	Glucose 6-Phosphate Dehydrogenase Deficiency
Chapter 180	Cytochrome b5
Chapter 181	The Hemoglobinopathies
Chapter 182	Pyruvate Kinase Deficiency and Other Enzymopathies of the Erythrocyte
Chapter 183	Hereditary Spherocytosis and Hereditary Elliptocytosis

Chapter 184	Antibody Deficiencies
Chapter 185	T Cell and Combined Immunodeficiency Disorders
Chapter 186	Genetically Determined Disorders of the Complement System
Chapter 187	Immotile Cilia Syndrome (Primary Ciliary Dyskinesia), Including Kartagener Syndrome
Chapter 188	Leukocyte Adhesion Deficiencies
Chapter 189	Inherited Disorders of Oxidative Phagocyte Killing

Chapter 190	Familial Glucose-Galactose Malabsorption and Hereditary Renal Glycosuria
Chapter 191	Cystinuria
Chapter 192	Lysinuric Protein Intolerance and Other Cationic Aminoacidurias
Chapter 193	Hartnup Disorder
Chapter 194	Iminoglycinuria
Chapter 195	Renal Tubular Acidosis
Chapter 196	The Renal Fanconi Syndrome
Chapter 197	Mendelian Hypophosphatemias
Chapter 198	Hereditary Renal Hypouricemia
Chapter 199	Cystinosis: A Disorder of Lysosomal Membrane Transport
Chapter 200	Disorders of Free Sialic Acid Storage
Chapter 201	Cystic Fibrosis
Chapter 202	Defects in Sulfate Metabolism and Skeletal Dysplasias
Chapter 203	Familial Cardiac Arrhythmias
Chapter 204	Channelopathies: Episodic Disorders of the Nervous System

Chapter 205	Disorders of Collagen Biosynthesis and Structure
Chapter 206	Marfan Syndrome and Related Disorders
Chapter 207	Hypophosphatasia
Chapter 208	The Carbonic Anhydrase II Deficiency Syndrome: Osteopetrosis with Renal Tubular Acidosis and Cerebral Calcification
Chapter 209	Amyloidosis
Chapter 210	Achondroplasia and Pseudoachondroplasia

Chapter 211	The Inherited Basis of Blood Pressure Variation and Hypertension
Chapter 212	Hereditary Hemorrhagic Telangiectasia
Chapter 213	Hypertrophic Cardiomyopathy

Chapter 214	Alport Syndrome and Basement Membrane Collagen
Chapter 215	Autosomal Dominant Polycystic Kidney Disease

Chapter 216	The Muscular Dystrophies
Chapter 217	Myotonic Dystrophy

Chapter 218	Hereditary Surfactant Protein B Deficiency
Chapter 219	α1

Chapter 220	Albinism
Chapter 221	Disorders of Intermediate Filaments and Their Associated Proteins
Chapter 222	Epidermolysis Bullosa: The Disease of the Cutaneous Basement Membrane Zone

Chapter 222.1	Genetics of Psoriasis
Chapter 223	Huntington Disease
Chapter 224	Prion Diseases
Chapter 225	Kallmann Syndrome
Chapter 226	Spinocerebellar Ataxias
Chapter 227	Charcot-Marie-Tooth Peripheral Neuropathies and Related Disorders
Chapter 228	Pelizaeus-Merzbacher Disease and the Allelic Disorder X-Linked Spastic Paraplegia Type 2
Chapter 228.1	Hereditary Spastic Paraplegias
Chapter 229	Aspartoacylase Deficiency (Canavan Disease)
Chapter 229.1	Aminoacylase I Deficiency
Chapter 230	The Inherited Epilepsies
Chapter 231	Spinal Muscular Atrophy
Chapter 232	Friedreich Ataxia and AVED
Chapter 233	Tuberous Sclerosis
Chapter 234	Alzheimer Disease and the Frontotemporal Dementias: Diseases with Cerebral Deposition of Fibrillar Proteins
Chapter 235.1	Retinitis Pigmentosa and Stationary Night Blindness
Chapter 235.2	The Role of Genetics in Multiple Sclerosis

Chapter 235	Vanishing White Matter
Chapter 236	Choroideremia
Chapter 237	Leber Congenital Amaurosis
Chapter 238	Color Vision and Its Genetic Defects
Chapter 239	Norrie Disease
Chapter 240	Transcription Factors in Eye Disease and Ocular Development
Chapter 241	Molecular Biology and Inherited Disorders of the Eye Lens
Chapter 242	The Glaucomas
Chapter 243	Inherited Macular Dystrophies and Susceptibility to Degeneration

Chapter 244	Waardenburg Syndrome
Chapter 245	Craniosynostosis Syndromes
Chapter 246	Treacher Collins Syndrome
Chapter 247	Aarskog-Scott Syndrome
Chapter 248	Rubinstein-Taybi Syndrome
Chapter 249	Smith-Lemli-Opitz Syndrome
Chapter 250	Holoprosencephaly
Chapter 251	Hirschsprung Disease
Chapter 252	The Oculocerebrorenal Syndrome of Lowe (Lowe Syndrome)
Chapter 253	Campomelic Dysplasia/Autosomal Sex Reversal/SOX9
Chapter 254	Hereditary Hearing Loss
Chapter 255	Rett Syndrome