The Online Metabolic and Molecular Bases of Inherited Disease: Home

View MMBID Chapter Archive

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] Revised—April 2010

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]
5.2:

Gene Therapy of Human Inherited Diseases, N Brunetti-Pierri / A Auricchio [Abstract][Full Text]
New—January 2010
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]
41S:

Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC), Virpi Launonen / Maija Kiuru / Riitta Herva / Lauri A. Aaltonen [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:

Adenylosuccinate Lyase Deficiency, Jaeken Jaak / Van den Berghe Georges [Abstract] [Full Text]
113:

Hereditary Orotic Aciduria and Other Disorders of Pyrimidine Metabolism, Albert H. van Gennip / André B. P. Van Kuilenburg / David M. O. Becroft / Dianne R. Webster [Abstract] [Full Text]

Part 12: LIPIDS

114:

Introduction: Structure and Metabolism of Plasma Lipoproteins, John P. Kane / Richard J. Havel [Abstract] [Full Text]
115:

Disorders of the Biogenesis and Secretion of Lipoproteins Containing the B Apolipoproteins, John P. Kane / Richard J. Havel [Abstract] [Full Text]
116:

Lipoprotein(a), Gerd Utermann [Abstract] [Full Text]
117:

Familial Lipoprotein Lipase Deficiency, Apo C-II Deficiency, and Hepatic Lipase Deficiency, John D. Brunzell / Samir S. Deeb [Abstract] [Full Text]
117S:

Association of Variants in the Lipase Genes with Lipid Levels and Coronary Artery Disease, Samir S. Deeb / John D. Brunzell [Abstract] [Full Text]
New—February 2009
118:

Lecithin Cholesterol Acyltransferase Deficiency and Fish Eye Disease, Gerd Assmann / H. Bryan Brewer, Jr. / Jeffrey M. Hoeg† / Silvia Santamarina-Fojo [Abstract] [Full Text]
119:

Type III Hyperlipoproteinemia (Dysbetalipoproteinemia): The Role of Apolipoprotein E in Normal and Abnormal Lipoprotein Metabolism, Robert W. Mahley / Stanley C. Rall, Jr. [Abstract] [Full Text]
120:

Familial Hypercholesterolemia, Helen H. Hobbs / Joseph L. Goldstein / Michael S. Brown [Abstract] [Full Text]
121:

Genetic Disorders Affecting Plasma High-Density Lipoproteins, Alan R. Tall / Edward M. Rubin / Jan L. Breslow [Abstract] [Full Text]
122:

Familial Analphalipoproteinemia: Tangier Disease, Arnold von Eckardstein / Gerd Assmann / H. Bryan Brewer, Jr. [Abstract] [Full Text]
123:

Inborn Errors in Bile Acid Biosynthesis and Storage of Sterols Other than Cholesterol, Eran Leitersdorf / Ingemar Björkhem / Kirsten Muri Boberg [Abstract] [Full Text]

Part 13: PORPHYRINS

124:

Disorders of Heme Biosynthesis: X-Linked Sideroblastic Anemia and the Porphyrias, Karl E. Anderson / Shigeru Sassa / David F. Bishop / Robert J. Desnick [Abstract] [Full Text]
125:

Hereditary Jaundice and Disorders of Bilirubin Metabolism, Allan W. Wolkoff / Irwin M. Arias / Jayanta Roy Chowdhury / Namita Roy Chowdhury [Abstract] [Full Text]

Part 14: METALS

126:

Disorders of Copper Transport, Jonathan David Gitlin / Valeria Cizewski Culotta [Abstract] [Full Text]
127:

Hereditary Hemochromatosis, Arno G. Motulsky / Ernest Beutler / Robert W. Charlton / Thomas H. Bothwell [Abstract] [Full Text]
128:

Molybdenum Cofactor Deficiency and Isolated Sulfite Oxidase Deficiency, Jean L. Johnson / Marinus Duran [Abstract] [Full Text]

Part 15: PEROXISOMES

129:

The Peroxisome Biogenesis Disorders, David Valle / Gerald V. Raymond / Stephen J. Gould [Abstract] [Full Text]
130:

Single Peroxisomal Enzyme Deficiencies, Hugo S. A. Heymans / Peter G. Barth / Ronald J. A. Wanders [Abstract] [Full Text]
131:

X-Linked Adrenoleukodystrophy, Ann B. Moser / Hugo W. Moser / James Powers / Kirby D. Smith / Paul A. Watkins [Abstract] [Full Text]
132:

Refsum Disease, Cornelis Jakobs / Ola H. Skjeldal / Ronald J. A. Wanders [Abstract] [Full Text]
133:

Primary Hyperoxaluria, Christopher J. Danpure [Abstract] [Full Text]

Part 16: LYSOSOMAL DISORDERS

134:

Sphingolipid Activator Proteins, Klaus Harzer / Konrad Sandhoff / Natascha Remmel / Thomas Kolter / Ute Schepers [Abstract] [Full Text]
135:

Glycogen Storage Disease Type II: Acid a-Glucosidase (Acid Maltase) Deficiency, Arnold J.J. Reuser / Rochelle Hirschhorn [Abstract] [Full Text]
136:

The Mucopolysaccharidoses, Elizabeth F. Neufeld / Joseph Muenzer [Abstract] [Full Text]
137:

Pycnodysostosis: Cathepsin K Deficiency, Bruce D. Gelb / Dieter Brömme / Robert J. Desnick [Abstract] [Full Text]
138:

I-Cell Disease and Pseudo-Hurler Polydystrophy: Disorders of Lysosomal Enzyme Phosphorylation and Localization, Stuart Kornfeld / William S. Sly [Abstract] [Full Text]
138.1:

Mucolipidosis Type IV, Ehud Goldin / Janine A. Smith / Raphael Schiffmann / Susan A. Slaugenhaupt [Abstract] [Full Text]
139:

a-N-Acetylgalactosaminidase Deficiency: Schindler Disease, Detlev Schindler / Robert J. Desnick [Abstract] [Full Text]
140:

Disorders of Glycoprotein Degradation: a-Mannosidosis, ß-Mannosidosis, Fucosidosis, and Sialidosis, George H. Thomas [Abstract] [Full Text]
141:

Aspartylglucosaminuria, Anu Jalanko / Leena Peltonen / Pertti Aula [Abstract] [Full Text]
142:

Acid Lipase Deficiency: Wolman Disease and Cholesteryl Ester Storage Disease, Gerd Assmann / Udo Seedorf [Abstract] [Full Text]
143:

Acid Ceramidase Deficiency: Farber Lipogranulomatosis, Thierry Levade / Konrad Sandhoff / Heike Schulze / Jeffrey A. Medin[Abstract] [Full Text] Revised—June 2009
144:

Niemann-Pick Disease Types A and B: Acid Sphingomyelinase Deficiencies, Edward H. Schuchman / Robert J. Desnick [Abstract] [Full Text]
145:

Niemann-Pick Disease Type C: A Lipid Trafficking Disorder, Edward B. Neufeld / Eugene Carstea / Jill A. Morris / Joan E. Blanchette-Mackie / Kinuko Suzuki / Marc C. Patterson / Marie T. Vanier / Peter G. Pentchev [Abstract] [Full Text]
146:

Gregory A. Grabowski / Gregory A. Petsko / Edwin H. Kolodny [Abstract] [Full Text] Revised—July 2010
146.1:

Gaucher Disease: Phenotypic and Genetic Variation, Ainu Prakash-Cheng / Barry E. Rosenbloom / Edwin H. Kolodny / Gregory A. Grabowski / Gregory M. Pastores / Joel Charrow / Neal J. Weinreb / Paige Kaplan / Pramod K. Mistry [Abstract] [Full Text]
147:

Galactosylceramide Lipidosis: Globoid Cell Leukodystrophy (Krabbe Disease), David A. Wenger / Kinuko Suzuki / Kunihiko Suzuki / Yoshiyuki Suzuki [Abstract] [Full Text]
148:

Metachromatic Leukodystrophy, Jaak Jaeken / Kurt von Figura / Volkmar Gieselmann [Abstract] [Full Text]
149:

Multiple Sulfatase Deficiency and the Nature of the Sulfatase Family, Andrea Ballabio / John J. Hopwood [Abstract] [Full Text]
150:

a-Galactosidase A Deficiency: Fabry Disease, Christine M. Eng / Robert J. Desnick / Yiannis A. Ioannou [Abstract] [Full Text]
151:

β-Galactosidase Deficiency (β-Galactosidosis): G_M1 Gangliosidosis and Morquio B Disease,
Yoshiyuki Suzuki / Eiji Nanba / Junichiro Matsuda / Katsumi Higaki / Akihiro Oshima[Abstract] [Full Text] Revised—July 2008
152:

Galactosialidosis, Alessandra d'Azzo / Generoso Andria / Hans Galjaard / Pietro Strisciuglio [Abstract] [Full Text]
153:

The GM2, Kinuko Suzuki / Konrad Sandhoff / Kunihiko Suzuki / Michael M. Kaback / Richard L. Proia / Roy A. Gravel [Abstract] [Full Text]
154:

The Neuronal Ceroid Lipofuscinoses, Leena Peltonen / Sandra L. Hofmann [Abstract] [Full Text]

Part 17: VITAMINS

155:

Inherited Disorders of Folate and Cobalamin Transport and Metabolism, David S. Rosenblatt / Wayne A. Fenton [Abstract] [Full Text]
156:

Disorders of Biotin Metabolism, Barry Wolf [Abstract] [Full Text]

Part 18: HORMONES

157:

Obesity, Michael Rosenbaum / Rudolph L. Leibel / Streamson C. Chua [Abstract] [Full Text]
158:

Thyroid Disorders, Gilbert Vassart / Jacques Dumont / Samuel Refetoff [Abstract] [Full Text]
159:

Congenital Adrenal Hyperplasia, Claude J. Migeon / Keith L. Parker / Patricia A. Donohoue [Abstract] [Full Text]
160:

The Androgen Resistance Syndromes: Steroid 5a-Reductase 2 Deficiency, Testicular Feminization, and Related Disorders, David W. Russell / James E. Griffin / Jean D. Wilson / Michael J. McPhaul [Abstract] [Full Text]
161:

Spinobulbar Muscular Atrophy, Lenore K. Beitel / Leonard Pinsky / Mark A. Trifiro / Youssef A. Elhaji [Abstract] [Full Text]
162:

Inherited Defects in Growth Hormone Synthesis and Action, John A. Phillips III / Joy D. Cogan [Abstract] [Full Text]
163:

Nephrogenic Diabetes Insipidus, Daniel G. Bichet / T. Mary Fujiwara [Abstract] [Full Text]
164:

Pseudohypoparathyroidism, Allen M. Spiegel / Lee S. Weinstein [Abstract] [Full Text]
165:

Vitamin D and Other Calciferols, Stephen J. Marx / Uri A. Liberman [Abstract] [Full Text]
166:

Steroid Sulfatase Deficiency and X-Linked Ichthyosis, Andrea Ballabio / Larry J. Shapiro [Abstract] [Full Text]
167:

Adrenal Hypoplasias and Aplasias, Edward R.B. McCabe [Abstract] [Full Text]
168:

Nitric Oxide Synthases, David S. Bredt [Abstract] [Full Text]

Part 19: BLOOD

169:

Introduction to Hemostasis and the Vitamin K-Dependent Coagulation Factors, Davie Earl W. / Greenberg Daniel L. [Abstract] [Full Text]
170:

Anticoagulant Protein C/Thrombomodulin Pathway, Charles T. Esmon [Abstract] [Full Text]
171:

Disorders of Fibrinogen and Factor XIII, Akitada Ichinose / Dominic W. Chung / Kathleen P. Pratt [Abstract] [Full Text]
172:

Hemophilia A: Deficiency of Coagulation Factor VIII, E. Antonarakis Stylianos / Edward G. D. Tuddenham / Haig H. Kazazian, Jr. [Abstract] [Full Text]
173:

Hemophilia B: Factor IX Deficiency, A. High Katherine / S. Pollak Eleanor [Abstract] [Full Text]
174:

Von Willebrand Disease, J. Evan Sadler [Abstract] [Full Text]
175:

Factor XI and the Contact System, David Gailani / Thomas Renné / Jonas Emsley [Abstract] [Full Text Revised—August 2010
176:

Antithrombin Deficiency, Douglas M. Tollefsen [Abstract] [Full Text]
176S:

Antithrombin Deficiency, Douglas M. Tollefsen [Abstract] [Full Text]
Supplement—January 2009
177:

Inherited Disorders of Platelets, Deborah L. French / Mortimer Poncz / Peter J. Newman [Abstract] [Full Text]
178:

Disorders of the Fibrinolytic System, David Ginsburg [Abstract] [Full Text]
179:

Glucose 6-Phosphate Dehydrogenase Deficiency, Atul Mehta / Lucio Luzzatto / Tom Vulliamy [Abstract] [Full Text]
180:

Cytochrome b5, Donald E. Hultquist / Ernst R. Jaffé [Abstract] [Full Text]
181:

The Hemoglobinopathies, D.J. Weatherall / D.R. Higgs / J.B. Clegg / W.G. Wood [Abstract] [Full Text]
182:

Pyruvate Kinase Deficiency and Other Enzymopathies of the Erythrocyte, Akira Hirono / Ernest Beutler / Hitoshi Kanno / Shiro Miwa [Abstract] [Full Text]
183:

Hereditary Spherocytosis and Hereditary Elliptocytosis, Samuel E. Lux / William T. Tse [Abstract] [Full Text]

Part 20: IMMUNE AND DEFENSE SYSTEMS

184:

Antibody Deficiencies, Mary Ellen Conley [Abstract] [Full Text]
185:

T Cell and Combined Immunodeficiency Disorders, Jennifer M. Puck / John W. Belmont [Abstract] [Full Text]
186:

Genetically Determined Disorders of the Complement System, Jerry A. Winkelstein / Kathleen E. Sullivan [Abstract] [Full Text]
187:

Immotile Cilia Syndrome (Primary Ciliary Dyskinesia), Including Kartagener Syndrome, Björn Mossberg / Björn A. Afzelius / Sten Erik Bergström [Abstract] [Full Text] Updated—August 2007
188:

Leukocyte Adhesion Deficiencies, C. Wayne Smith / Donald C. Anderson [Abstract] [Full Text]
189:

Inherited Disorders of Oxidative Phagocyte Killing, Mary C. Dinauer / William M. Nauseef / Peter E. Newburger [Abstract] [Full Text] Revised—October 2009

Part 21: MEMBRANE TRANSPORT DISORDERS

190:

Familial Glucose-Galactose Malabsorption and Hereditary Renal Glycosuria, Eric Turk / Ernest M. Wright / Martín G. Martín [Abstract] [Full Text]
191:

Cystinuria, Manuel Palacín / Paolo Gasparini / Paul Goodyer / Virginia Nunes [Abstract] [Full Text]
192:

Lysinuric Protein Intolerance and Other Cationic Aminoacidurias, Olli Simell [Abstract] [Full Text]
193:

Hartnup Disorder, Harvey L. Levy [Abstract] [Full Text]
194:

IminoglycinuriaMany sections of this chapter remain unaltered from versions in the 6th and 7th editions of this work. Permission has been obtained from the original author, Dr. Charles R. Scriver, for publication., Russell W. Chesney [Abstract] [Full Text]
195:

Renal Tubular Acidosis, Robert J. Alpern / Thomas D. DuBose, Jr. [Abstract] [Full Text]
196:

The Renal Fanconi Syndrome, André Gougoux / Josette Noël / Lucie Parent / Michel Bergeron [Abstract] [Full Text]
197:

Mendelian Hypophosphatemias, Harriet S. Tenenhouse / Michael J. Econs [Abstract] [Full Text]
198:

Hereditary Renal Hypouricemia, Oded Sperling [Abstract] [Full Text]
198S:

MEMBRANE TRANSPORT DISORDERS, Oded Sperling [Abstract] [Full Text] Supplement—January 2008
199:

Cystinosis: A Disorder of Lysosomal Membrane Transport, Jerry A. Schneider / Jess G. Thoene / William A. Gahl [Abstract] [Full Text]
200:

Disorders of Free Sialic Acid Storage, Pertti Aula / William A. Gahl [Abstract] [Full Text]

200S:

Recent Developments in Disorders of Free Sialic Acid Storage, Nina Aula / Pertti Aula / William A. Gahl [Abstract] [Full Text]
201:

Cystic Fibrosis, Bonnie W. Ramsey / Frank Accurso / Garry R. Cutting / Michael J. Welsh [Abstract] [Full Text]
202:

Defects in Sulfate Metabolism and Skeletal Dysplasias, Andrea Superti-Furga [Abstract] [Full Text]
203:

Familial Cardiac Arrhythmias, Mark T. Keating / Michael C. Sanguinetti [Abstract] [Full Text]
204:

Channelopathies: Episodic Disorders of the Nervous System, Joanna Jen / Louis Ptácek [Abstract] [Full Text]

Part 22: CONNECTIVE TISSUE

205:

Disorders of Collagen Biosynthesis and Structure, Peter H. Byers [Abstract] [Full Text]
206:

Marfan Syndrome and Related Disorders, Harry C. Dietz / Reed E. Pyeritz [Abstract] [Full Text]
207:

Hypophosphatasia, Michael P. Whyte [Abstract] [Full Text]
208:

The Carbonic Anhydrase II Deficiency Syndrome: Osteopetrosis with Renal Tubular Acidosis and Cerebral Calcification, Gul N. Shah / William S. Sly [Abstract] [Full Text]
209:

Amyloidosis, Merrill D. Benson [Abstract] [Full Text]
210:

Achondroplasia and Pseudoachondroplasia, Clair A. Francomano / Douglas J. Wilkin / Jacqueline T. Hecht [Abstract] [Full Text]

Part 23: CARDIOVASCULAR SYSTEM

211:

The Inherited Basis of Blood Pressure Variation and Hypertension, Ali Gharavi / Richard P. Lifton [Abstract] [Full Text]
212:

Hereditary Hemorrhagic Telangiectasia, Andreas Lux / Douglas A. Marchuk [Abstract] [Full Text]
213:

Hypertrophic Cardiomyopathy, Christine E. Seidman / J.G. Seidman [Abstract] [Full Text]

Part 24: KIDNEY

214:

Alport Syndrome and Basement Membrane Collagen, Paula Martin / Tryggvason Karl [Abstract] [Full Text]
215:

Autosomal Dominant Polycystic Kidney Disease, Arlene B. Chapman / Gregory G. Germino [Abstract] [Full Text]

Part 25: MUSCLE

216:

The Muscular Dystrophies, Louis M. Kunkel / Peter B. Kang [Abstract] [Full Text]
217:

Myotonic Dystrophy, Peter S. Harper / Keith Johnson [Abstract] [Full Text]

217S:

Proximal Myotonic Myopathy and the Type 2 Myotonic Dystrophy Mutation: Implications for Our Understanding of Myotonic Dystrophy, Keith Johnson / Peter S. Harper [Abstract] [Full Text]

Part 26: LUNG

218:

Hereditary Surfactant Protein B Deficiency, Jeffrey A. Whitsett / Lawrence M. Nogee [Abstract] [Full Text]
219:

a1, Diane Wilson Cox [Abstract] [Full Text]

Part 27: SKIN

220:

Albinism, Donnell J. Creel / Richard A. King / Vincent J. Hearing / William S. Oetting [Abstract] [Full Text]
221:

Disorders of Intermediate Filaments and Their Associated Proteins, Fuchs Elaine [Abstract] [Full Text]
222:

Epidermolysis Bullosa: The Disease of the Cutaneous Basement Membrane ZoneGenBank accession numbers for genes of the cutaneous basement membrane zone (BMZ): LAMA3 (X85108, X85107); LAMC2 (U43327, U311787-U31, Jouni Uitto / Leena Pulkkinen [Abstract] [Full Text]

Part 28: NEUROGENETICS

223:

Huntington Disease, Berry Kremer / Michael R. Hayden [Abstract] [Full Text]
224:

Prion Diseases, Stanley B. Prusiner [Abstract] [Full Text]
225:

Kallmann Syndrome, Andrea Ballabio / Elena I. Rugarli [Abstract] [Full Text]
226:

Spinocerebellar Ataxias, Harry T. Orr / Huda Y. Zoghbi [Abstract] [Full Text]
227:

Charcot-Marie-Tooth Peripheral Neuropathies and Related Disorders, Carlos A. Garcia / James R. Lupski [Abstract] [Full Text]
228:

Pelizaeus-Merzbacher Disease and the Allelic Disorder X-linked Spastic Paraplegia Type 2, Lynn D. Hudson [Abstract] [Full Text]
228.1:

Hereditary Spastic Paraplegias, Evan Reid/Elena I. Rugarli [Abstract] [Full Text] New—May 2010
229:

Aspartoacylase Deficiency (Canavan Disease), Arthur L. Beaudet [Abstract] [Full Text]
229.1:

Aminoacylase I Deficiency, Erik Gerlo / Joél Smet / Rudy Van Coster / Thierry Giardina / Willy Lissens [Abstract] [Full Text]
230:

The Inherited Epilepsies, Jeffrey L. Noebels [Abstract] [Full Text]
231:

Spinal Muscular Atrophy, Carmen Cifuentes-Diaz / Cristina Panozzo / Judith Melki / Tony Frugier [Abstract] [Full Text]
232:

Friedreich Ataxia and AVED, Michel Koenig [Abstract] [Full Text]
233:

Tuberous Sclerosis, Julian R. Sampson [Abstract] [Full Text]
234:

Alzheimer Disease and the Frontotemporal Dementias: Diseases with Cerebral Deposition of Fibrillar Proteins, L.A. Farrer / M. Goedert / P.H. St George-Hyslop [Abstract] [Full Text]
235.1:

VANISHING WHITE MATTER, Marjo S. van der Knaap/ Marianna Bugiani/ Ilja Boor/ Chris G. Proud/ Gert C. Scheper [Abstract] [Full Text] New—June 2010

Part 29: EYE

235:

Retinitis Pigmentosa and Stationary Night Blindness, Thaddeus P. Dryja [Abstract] [Full Text]
236:

Choroideremia, Frans P. M. Cremers / Hans-Hilger Ropers [Abstract] [Full Text]
237:

Leber Congenital Amaurosis, Arnold Munnich / Isabelle Perrault / Jean-Michel Rozet / Josseline Kaplan [Abstract] [Full Text]
238:

Color Vision and Its Genetic Defects, Arno G. Motulsky / Samir S. Deeb [Abstract] [Full Text]
239:

Norrie Disease, Hans-Hilger Ropers / Wolfgang Berger [Abstract] [Full Text]
240:

Transcription Factors in Eye Disease and Ocular Development, Carol Freund / D. Jonathan Horsford / Isabel Hanson / Roderick R. McInnes / Veronica van Heyningen [Abstract] [Full Text]
241:

Molecular Biology and Inherited Disorders of the Eye Lens, J. F. Hejtmancik / Joram Piatigorsky / M. I. Kaiser [Abstract] [Full Text]
242:

The Glaucomas, Edwin M. Stone / Val C. Sheffield / Wallace L. M. Alward [Abstract] [Full Text]
243:

Inherited Macular Dystrophies and Susceptibility to Degeneration, James R. Lupski / Rando Allikmets / Richard Alan Lewis [Abstract] [Full Text]

Part 30: MULTISYSTEM INBORN ERRORS OF DEVELOPMENT

244:

Waardenburg Syndrome, Andrew P. Read [Abstract] [Full Text]
245:

Craniosynostosis Syndromes, Andrew O.M. Wilkie / Maximilian Muenke [Abstract] [Full Text]
246:

Treacher Collins Syndrome, Karen L. Marsh / Michael J. Dixon [Abstract] [Full Text]
247:

Aarskog-Scott Syndrome, Jerome L. Gorski [Abstract] [Full Text]
248:

Rubinstein-Taybi Syndrome, Fred Petrij / Martijn H. Breuning / Rachel H. Giles / Raoul C.M. Hennekam [Abstract] [Full Text]
249:

Smith-Lemli-Opitz Syndrome, Raoul C. M. Hennekam / Richard I. Kelley [Abstract] [Full Text]
250:

Holoprosencephaly, Maximilian Muenke / Philip A. Beachy [Abstract] [Full Text]
251:

Hirschsprung Disease, Andrew S. McCallion / Aravinda Chakravarti / Stanislas Lyonnet [Abstract] [Full Text]
252:

The Oculocerebrorenal Syndrome of Lowe (Lowe Syndrome), Robert L. Nussbaum / Sharon F. Suchy [Abstract] [Full Text]
253:

Campomelic Dysplasia/Autosomal Sex Reversal/SOX9, Alan J. Schafer [Abstract] [Full Text]
254:

Hereditary Hearing Loss, Christine Petit / Jacqueline Levilliers / Jean-Pierre Hardelin / Sandrine Marlin [Abstract] [Full Text]
255:

Rett Syndrome, Huda Y. Zoghbi / Uta Francke [Abstract] [Full Text]
Standard Abbreviations