The Online Metabolic and Molecular Bases of Inherited Disease: Home

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Part 1: INTRODUCTION

1:

Genetics, Biochemistry, and Molecular Bases of Variant Human Phenotypes, Arthur L. Beaudet / Charles R. Scriver / David Valle / William S. Sly [Abstract] [Full Text]
1.1:

Morbid Anatomy of the Human Genome, Ada Hamosh / Joanna S. Amberger / Victor A. McKusick [Abstract] [Full Text]
1.2:

Mutation Databases: Overview and Catalogues, Charles R. Scriver / Rania Horaitis / Richard G.H. Cotton [Abstract] [Full Text]
1.3:

The Human Gene Mutation Database (HGMD), David N. Cooper / Peter D. Stenson [Abstract] [Full Text]

Part 2: PERSPECTIVES

2:

A Logic of Disease, Barton Childs [Abstract] [Full Text]
2.1:

Genetic: One Word, Several Meanings, Kenneth M. Weiss [Abstract] [Full Text]
3:

The Inborn Error and Biochemical Individuality, Barton Childs / David Valle / Gerardo Jimenez-Sanchez [Abstract] [Full Text]
3.1:

Metabolism and Metabolic Disease Resources on the Web, David S. Wishart [Abstract] [Full Text]
4:

The Effect of Mendelian Disease on Human Health, Barton Childs / David Valle / Gerardo Jimenez-Sanchez [Abstract] [Full Text]
5:

Treatment of Genetic Disease, Gerardo Jimenez-Sanchez / Barton Childs / David Valle [Abstract] [Full Text] Updated—December 2007

5S:

The Adult Patient with Hereditary Metabolic Disease, Philip J. Lee [Abstract] [Full Text]
6:

Multifactorial Diseases: Ancient Gene Polymorphism at Quantitative Trait Loci and a Legacy of Survival During Our Evolution, John A. Todd [Abstract] [Full Text]
7:

Genes and Susceptibility to Infectious Diseases, Adrian V.S. Hill [Abstract] [Full Text]
8:

Genetics and Aging, George M. Martin [Abstract] [Full Text]
9:

Pharmacogenetics, Denis M. Grant / Werner Kalow [Abstract] [Full Text]

Part 3: GENERAL THEMES

10:

The Human Genome Project and Its Impact on the Study of Human Disease, Eric D. Green [Abstract] [Full Text]
11:

Population Genetics, Walter F. Bodmer [Abstract] [Full Text]
12:

The Role of Human Major Histocompatibility Complex (HLA) Genes in Disease, Hugh O. McDevitt / Lars Fugger / Peter van Endert / Roland Libau / Roland Tisch [Abstract] [Full Text]
13:

The Nature and Mechanisms of Human Gene Mutation, David N. Cooper / Michael Krawczak / Stylianos E. Antonarakis [Abstract] [Full Text]
13.1:

Protein Folding and Misfolding: The Role of Cellular Protein Quality Control Systems in Inherited Disorders, Malene Munk Jørgensen / Niels Gregersen / Peter Bross [Abstract] [Full Text]
14:

Mouse Models of Human Genetic Disorders, William J. Craigen [Abstract] [Full Text]
15:

Genome Imprinting in Human Disease, Carmen Sapienza / Judith G. Hall [Abstract] [Full Text]
16:

The Biogenesis of Membranes and Organelles, David D. Sabatini / Milton B. Adesnik [Abstract] [Full Text]

Part 4: CANCER

17:

Introduction to Cancer Genetics Chapters, Bert Vogelstein / Kenneth W. Kinzler [Abstract] [Full Text]

Section 1 : Basic Concepts in Cancer Genetics

18:

Genomic Imprinting and Cancer, Andrew P. Feinberg [Abstract] [Full Text]
18.1:

DNA Methylation and Epigenetic Silencing of Genes in Cancer, James G. Herman / Stephen B. Baylin [Abstract] [Full Text]
19:

Genes Altered by Chromosomal Translocations in Leukemias and Lymphomas, A. Thomas Look [Abstract] [Full Text]
20:

Chromosome Alterations in Human Solid Tumors, Anne Kallioniemi / Jeffrey M. Trent / Paul S. Meltzer [Abstract] [Full Text]
21:

Gene Amplification in Human Cancers: Biological and Clinical Significance, Garrett M. Brodeur / Michael D. Hogarty [Abstract] [Full Text]
21.1:

Gene Expression Profiling in Cancer, Gregory J. Riggins / Patrice J. Morin [Abstract] [Full Text]
22:

Tumor Genome Instability, Christoph Lengauer / Daniel P. Cahill [Abstract] [Full Text]

Section 2 : Controls on Cell Cycle

23:

Cell Cycle Control: An Overview, Bruce E. Clurman / James M. Roberts [Abstract] [Full Text]
24:

Apoptosis and Cancer, Charles M. Rudin / Craig B. Thompson [Abstract] [Full Text]
25:

Oncogenes, Morag Park [Abstract] [Full Text]
26:

Tumor-Suppressor Genes, Eric R. Fearon [Abstract] [Full Text]

Section 3 : Familial Cancer Syndromes, I. Overview

27:

Familial Cancer Syndromes: The Role of Caretakers and Gatekeepers, Bert Vogelstein / Kenneth W. Kinzler [Abstract] [Full Text]

Section 4 : Familial Cancer Syndromes, II. Defects in Caretakers

28:

Nucleotide Excision Repair Syndromes: Xeroderma Pigmentosum, Cockayne Syndrome, and Trichothiodystrophy *This text is a complete revision of Chapter 148, Xeroderma Pigmentosum and Cockayne Syndrome, in the, Dirk Bootsma / James E. Cleaver / Jan H. J. Hoeijmakers / Kenneth H. Kraemer [Abstract] [Full Text]
29:

Ataxia-Telangiectasia, Richard A. Gatti [Abstract] [Full Text]
30:

Bloom Syndrome, James German / Nathan A. Ellis [Abstract] [Full Text]
31:

Fanconi Anemia, Arleen D. Auerbach / Hans Joenje / Manuel Buchwald [Abstract] [Full Text]
32:

Hereditary Nonpolyposis Colorectal Cancer (HNPCC), C. Richard Boland [Abstract] [Full Text]
33:

Werner Syndrome, Chang-En Yu / Gerard D. Schellenberg / Jun Nakura / Tetsuro Miki [Abstract] [Full Text]
34:

Peutz-Jeghers Syndrome, Lauri A. Aaltonen [Abstract] [Full Text]
35:

Juvenile Polyposis Syndrome, James R. Howe [Abstract] [Full Text]

Section 5 : Familial Cancer Syndromes, III. Defects in Gatekeepers

36:

Retinoblastoma, Irene F. Newsham / Theodora Hadjistilianou / Webster K. Cavenee [Abstract] [Full Text]
37:

Li-Fraumeni Syndrome, David Malkin [Abstract] [Full Text]
38:

Wilms Tumor, Daniel A. Haber [Abstract] [Full Text]
39:

Neurofibromatosis 1, David H. Gutmann / Francis S. Collins [Abstract] [Full Text]
40:

Neurofibromatosis 2, James Gusella / Mia MacCollin [Abstract] [Full Text]
40.1:

Hereditary Paragangliomas of the Head and Neck, Andel G.L. van der Mey / Cees J. Cornelisse / Peter Devilee [Abstract] [Full Text]
41:

Renal Carcinoma, Berton Zbar / D. Richard Klausner / W. Marston Linehan [Abstract] [Full Text]
41.1:

The Birt-Hogg-Dubé Syndrome, Berton Zbar / Laura S. Schmidt [Abstract] [Full Text]
42:

Multiple Endocrine Neoplasia Type 2, B. A. J. Ponder [Abstract] [Full Text]
43:

Multiple Endocrine Neoplasia Type 1, Stephen J. Marx [Abstract] [Full Text]
44:

Malignant Melanoma, Meenhard Herlyn / Steven Kazianis [Abstract] [Full Text] Updated—January 2007
45:

Cowden Syndrome, Charis Eng / Ramon Parsons [Abstract] [Full Text]
46:

Skin Cancer (Including Nevoid Basal Cell Carcinoma Syndrome), Jonathan L. Rees [Abstract] [Full Text]
46.1:

Familial Cylindromatosis, Graham R. Bignell / Michael R. Stratton [Abstract] [Full Text]
47:

Breast Cancer, Barbara L. Weber / Fergus J. Couch [Abstract] [Full Text]
47.1:

Familial Cardiac Myxomas and Carney Complex, Carl J. Vaughan / Craig T. Basson / Mark Veugelers [Abstract] [Full Text]
48:

Colorectal Tumors, Bert Vogelstein / Fred Bunz / Kenneth W. Kinzler [Abstract] [Full Text]

Section 6 : Familial Cancer Syndromes, IV. Managing Familial Cancer Syndromes

49:

Genetic Testing for Familial Cancer, Ann-Marie Codori / Gloria M. Petersen [Abstract] [Full Text]

Section 7 : Cancer by Site

50:

Pancreatic Cancer, Charles J. Yeo / Ralph H. Hruban / Scott E. Kern [Abstract] [Full Text]
51:

Ovarian Cancer, Louis Dubeau [Abstract] [Full Text]
52:

Endometrial Cancer, Lora Hedrick Ellenson [Abstract] [Full Text]
53:

Cervical Cancer, Kathleen R. Cho [Abstract] [Full Text]
54:

Bladder Cancer, David Sidransky / Paul Cairns [Abstract] [Full Text]
55:

Stomach Cancer, Steven M. Powell [Abstract] [Full Text]
56:

Prostate Cancer, G. Steven Bova / William B. Isaacs [Abstract] [Full Text]
57:

Brain Tumors, Ahmed Rasheed / Naji Al-dosari / Roger E. McLendon / Sandra H. Bigner [Abstract] [Full Text]
57.1:

Cancers of the Oral Cavity and Pharynx, Saman Warnakulasuriya [Abstract] [Full Text]
58:

Lung Cancer, Barry D. Nelkin / Mack Mabry / Stephen B. Baylin [Abstract] [Full Text]
59:

Hepatocellular Carcinoma, Curtis C. Harris / Lynne W. Elmore [Abstract] [Full Text]
59.1:

Genetic Abnormalities in Lymphoid Malignancies, Dan L. Longo [Abstract] [Full Text] New—May 2008
59.2:

The Classic Myeloproliferative Neoplasms: Chronic Myelogenous Leukemia, Polycythemia Vera, Essential Thrombocythemia, and Primary Myelofibrosis, Ayalew Tefferi [Abstract] [Full Text] New—June 2008
60:

Clinical and Biological Aspects of Neuroblastoma, Garrett M. Brodeur [Abstract] [Full Text]
60.1:

Pilomatricoma and Pilomatrix Carcinoma, Edward F. Chan / Elaine Fuchs / Ramanuj Dasgupta / Uri Gat [Abstract] [Full Text]

Part 5: CHROMOSOMES

61:

The Sex Chromosomes and X Chromosome Inactivation, Huntington F. Willard [Abstract] [Full Text]
62:

SRY and Primary Sex-Reversal Syndromes, Giovanna Camerino / J. Ross Hawkins / Malcolm A. Ferguson-Smith / Peter N. Goodfellow [Abstract] [Full Text]
63:

Down Syndrome (Trisomy 21), Charles J. Epstein [Abstract] [Full Text]
64:

The Fragile X Syndrome, Stephanie L. Sherman / Stephen T. Warren [Abstract] [Full Text]
65:

Molecular Cytogenetics of Contiguous Gene Syndromes: Mechanisms and Consequences of Gene Dosage Imbalance, David H. Ledbetter / James R. Lupski / Lisa G. Shaffer [Abstract] [Full Text]

Part 6: DIAGNOSTIC APPROACHES

66:

Clinical Phenotypes: Diagnosis/Algorithms, Christiane Charpentier / Jean-Marie Saudubray [Abstract] [Full Text]

Part 7: CARBOHYDRATES

67:

ß-Cell Dysfunction in Type 2 Diabetes: Pathophysiological and Genetic Bases, Daniel Porte, Jr. / Steven E. Kahn [Abstract] [Full Text]
68:

Insulin Action, Insulin Resistance, and Type 2 Diabetes Mellitus, Simeon I. Taylor [Abstract] [Full Text]
69:

Type 1 Diabetes, Anjli Kukreja / Noel Keith Maclaren [Abstract] [Full Text]
70:

Disorders of Fructose Metabolism, Beat Steinmann / Georges Van den Berghe / Richard Gitzelmann [Abstract] [Full Text]
71:

Glycogen Storage Diseases, Yuan-Tsong Chen [Abstract] [Full Text]
72:

Galactosemia, Judith L. Fridovich-Keil / John H. Walter [Abstract] [Full Text] Revised—February 2008
73:

Pentosuria, Howard H. Hiatt [Abstract] [Full Text]
73S:

Ribose-5-Phosphate Isomerase Deficiency and Transaldolase Deficiency, Mirjam M.C.Wamelink/ Cornelis Jakobs [Abstract] [Full Text] Supplement—March 2008
74:

Defects of N-Glycan Synthesis, Emile Van Schaftingen / Gert Matthijs / Hubert Carchon / Jaak Jaeken [Abstract] [Full Text]
75:

Small-Intestinal Disaccharidases, Giorgio Semenza / Ned Mantei / Salvatore Auricchio [Abstract] [Full Text]
76:

Genetic Polymorphism of Intestinal Lactase Activity in Adult Humans, Dallas M. Swallow / Edward J. Hollox [Abstract] [Full Text] Updated—June 2007

Part 8: AMINO ACIDS

77:

Hyperphenylalaninemia: Phenylalanine Hydroxylase Deficiency, Charles R. Scriver / Harvey Levy / John Donlon [Abstract] [Full Text] Revised—April 2008

77S1:

Homeostasis, Complexity, and Monogenic Phenotypes: The View from Phenylketonuria, Charles R. Scriver [Abstract] [Full Text]

77S3:

The Population Genetics of PAH, Judith R. Kidd / Kenneth K. Kidd [Abstract] [Full Text]

77S2:

Structural Studies of Phenylalanine Hydroxylase Enzyme, Heidi Erlandsen / Raymond C. Stevens [Abstract] [Full Text]
78:

Disorders of Tetrahydrobiopterin and Related Biogenic Amines, Beat Thöny / Keith Hyland / Nenad Blau / Richard G. H. Cotton [Abstract] [Full Text]
79:

Hypertyrosinemia, Grant A. Mitchell / Marie Lambert / Markus Grompe / Robert M. Tanguay [Abstract] [Full Text]
80:

Disorders of Histidine Metabolism, Harvey L. Levy / Robin G. Taylor / Roderick R. McInnes [Abstract] [Full Text]
81:

Disorders of Proline and Hydroxyproline Metabolism, Chien-an A. Hu / David Valle / James M. Phang [Abstract] [Full Text]
82:

Prolidase Deficiency, Peter Hechtman [Abstract] [Full Text]
83:

The Hyperornithinemias, David Valle / Olli Simell [Abstract] [Full Text]
84:

Guanidinoacetate Methyltransferase Deficiency, Dirk Isbrandt / Folker Hanefeld / Kurt von Figura / Sylvia Stöckler-Ipsiroglu [Abstract] [Full Text]
85:

Urea Cycle Enzymes, Arthur L. Horwich / Saul W. Brusilow [Abstract] [Full Text]

85S:

Glutaminase and Glutamine Synthetase: Biochemistry, Pharmacology and Mendelian Disorder, Hans G. Koch / Ina Knerr / ä Häberle / K. Michael Gibson [Abstract] [Full Text]
86:

Errors of Lysine Metabolism, Rody P. Cox [Abstract] [Full Text]

86S:

Further Characterization of the Lysine Catabolic Pathway, Michael T. Geraghty [Abstract] [Full Text]
86.1:

Pyridoxine-Dependent Epilepsy Due to a-Aminoadipic Semialdehyde Dehydrogenase (Antiquitin) Deficiency, Peter T. Clayton [Abstract] [Full Text]
87:

Maple Syrup Urine Disease (Branched-Chain Ketoaciduria), David T. Chuang / R. Max Wynn / Vivian E. Shih[Abstract] [Full Text]
88:

Disorders of Transsulfuration, Harvey L. Levy / Jan P. Kraus / S. Harvey Mudd [Abstract] [Full Text]
88.1:

Trimethylaminuria and Deficiency of Flavin-Containing Monooxygenase Type 3 (FMO3), Eileen P. Treacy [Abstract] [Full Text] New—April 2007
89:

Sarcosinemia, C. Ronald Scott [Abstract] [Full Text]
90:

Nonketotic Hyperglycinemia, Ada Hamosh / Michael V. Johnston [Abstract] [Full Text]
91:

Disorders of ß- and γ-Amino Acids in Free and Peptide-Linked Forms The authors have drawn substantively from the earlier version of this chapter (MMBID 7th Edition, Vol 1, Chapter 38, pp. 1349, Cornelis Jakobs / K. Michael Gibson / Phillip L. Pearl [Abstract] [Full Text] Revised—March 2007

Part 9: ORGANIC ACIDS

92:

Alkaptonuria, Bert N. La Du [Abstract] [Full Text] Updated—November 2007
93:

Branched Chain Organic Acidurias, Julian C. Williams / Lawrence Sweetman [Abstract] [Full Text]
94:

Disorders of Propionate and Methylmalonate Metabolism, David S. Rosenblatt / Roy A. Gravel / Wayne A. Fenton [Abstract] [Full Text]
95:

Organic Acidemias Due to Defects in Lysine Oxidation: 2-Ketoadipic Acidemia and Glutaric Acidemia, Frank E. Frerman / Stephen I. Goodman [Abstract] [Full Text]
96:

Glutathione Synthetase Deficiency and Other Disorders of the γ-Glutamyl Cycle, Agne Larsson / Ellinor Ristoff / Mary E. Anderson [Abstract] [Full Text]
97:

Disorders of Glycerol Metabolism, Edward R. B. McCabe [Abstract] [Full Text]
98:

Sjögren-Larsson Syndrome: Fatty Aldehyde Dehydrogenase Deficiency, William B. Rizzo [Abstract] [Full Text]

Part 10: DISORDERS OF MITOCHONDRIAL FUNCTION

99:

è, Agnès Rötig / Arnold Munnich / Pierre Rustin / Valérie Cormier-Daire [Abstract] [Full Text]
100:

Lactic Acidemia: Disorders of Pyruvate Carboxylase and Pyruvate Dehydrogenase, Brian H. Robinson [Abstract] [Full Text]
101:

Mitochondrial Fatty Acid Oxidation Disorders, Charles R. Roe / Jiahuan Ding [Abstract] [Full Text]
102:

Inborn Errors of Ketone Body Metabolism, Grant A. Mitchell / Toshiyuki Fukao [Abstract] [Full Text]
103:

Defects of Electron Transfer Flavoprotein and Electron Transfer Flavoprotein-Ubiquinone Oxidoreductase: Glutaric Acidemia Type II, Frank E. Frerman / Stephen I. Goodman [Abstract] [Full Text]
104:

Oxidative Phosphorylation Diseases, John M. Shoffner [Abstract] [Full Text]
105:

Mitochondria and Neuro-ophthalmologic Diseases, Douglas C. Wallace / Keith Kerstann / Marie T. Lott / Michael D. Brown [Abstract] [Full Text]

Part 11: PURINES AND PYRIMIDINES

106:

Hyperuricemia and Gout, Michael A. Becker [Abstract] [Full Text]
107:

Lesch-Nyhan Disease and Its Variants, H. A. Jinnah / Theodore Friedmann [Abstract] [Full Text]
108:

Adenine Phosphoribosyltransferase Deficiency and 2,8-Dihydroxyadenine Lithiasis, Amrik S. Sahota / H. Anne Simmonds / Jay A. Tischfield / Naoyuki Kamatani [Abstract] [Full Text]
109:

Immunodeficiency Diseases Caused by Adenosine Deaminase Deficiency and Purine Nucleoside Phosphorylase Deficiency, Beverly S. Mitchell / Michael S. Hershfield [Abstract] [Full Text]
110:

Myoadenylate Deaminase Deficiency, Edward W. Holmes / Richard L. Sabina [Abstract] [Full Text]
111:

Xanthine Oxidoreductase-Role in Human Pathophysiology and in Hereditary Xanthinuria, Kari O. Raivio / Mika Saksela / Risto Lapatto [Abstract] [Full Text]
112: