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Gale Encyclopedia of Genetic Disorder / Gale Encyclopedia of Genetic Disorders, Two Volume Set - Volume 2 - M-Z - I

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Hypersensitivity. See Allergy

Hypertelorism

acrocallosal syndrome, 1:27 frontonasal dysplasia, 1:441 Opitz syndrome, 2:838

Hypertension, 2:985–987

See also Essential hypertension

Hyperthermia, 2:1116

See also Malignant hyperthermia (MH)

Hyperthyroidism, 2:902–906

Hypochondroplasia, 1:584–587 characteristics, 1:367–368 fibroblast growth factor receptor

mutations, 1:429 Hypoglycemia, 1:25–26, 146, 148

Hypogonadotropic hypogonadism, 1:627

Hypohydrotic ectodermal dysplasia, 1:375–376

Hypophosphatasia, 1:587–590 Hypophosphatemia, 1:591–593

Hypopigmentation, Waardenburg syndrome, 2:1185

Hypopituitarism

Pallister-Hall syndrome, 2:873–874 pituitary dwarfism, 2:927–929

Hypoplasia, Apert syndrome, 1:97

Hypoplastic left heart syndrome, 1:266, 268

Hypoplastic radius, Aase syndrome,

1:4

Hypospadias, 1:593–595

Hypothalamic hamartoblastoma, 2:873–874

Hypothalamus, narcolepsy, 2:792–793

Hypothyroidism, 1:270–272, 271–272, 2:902–906

Hypotonia

acrocallosal syndrome, 1:27–28 Cohen syndrome, 1:254

Sotos syndrome, 2:1072–1074

Hypotonia-obesity-prominent incisors syndrome, 1:252–255

I I

I-cell disease, 2:750–753, 2: 803 IBGC1 gene, 1:406

Ichthyosis, 1:597–599 harlequin fetus, 1:513–515 Sjögren-Larsson syndrome,

2:1061–1063

IDDM. See Insulin-dependent diabetes mellitus

Idebenone, Friedreich ataxia, 1:440 Ideopathic epilepsy, 1:394

Idiopathic basal ganglia calcification,

1:406–407

Idiopathic parkinsonism, 2:884–885 Idiopathic scoliosis, 2:1035–1037 IDUA gene, 1:572–574 Iduronate-2-sulphatase, MPS II

deficiency, 2:755 IKBKAP gene, 1:412

Iliac horn disease, 2:789–791 , 791 IL2RG gene, severe combined

immunodeficiency, 2:1041–1043 Immune hydrops fetalis, 1:579–581 Immune system

ACHOO syndrome, 1:22 asthma, 1:116–117

major histocompatibility complex, 2:696–700

severe combined immunodeficiency, 2:1040–1043

Immunodeficiency syndromes HIV (See Human

immunodeficiency virus) primary, 2:1040

severe combined, 2:1041–1043 Immunofluorescence, epidermolysis

bullosa, 1:392 Immunoglobulin E, asthma and,

1:117–118 Immunoglobulins

ataxia-telangiectasia and, 1:124–125

Bruton agammaglobulinemia, 1:179–181

Immunotherapy, cancer management, 1:193, 197–198

Impaired glucose tolerance, 1:328 In vitro fertilization

twin reversed arterial perfusion sequence, 1:8

zygote formation, 2:1229 Inborn error of metabolism

alkaptonuria, 1:55 galactosemia, 1:450–452 mannosidosis, 2:704

urea cycle disorders, 2:1159–1160 Incomplete penetrance, 1:34 Incontinentia pigmenti, 1:373,

1:600–603 , 602

Indirect DNA testing, 1:476 Infantile acid maltase deficiency,

1:23–24

Infantile hypophosphatasia, 1:588–589 Infantile nephropathic cystinosis,

1:301–302

Infantile neuronal ceroid lipofuscinosis, 1:140

Infantile onset pyruvate carboxylase deficiency, 2:970–972

Infantile refsum disease, 1:603–606, 2:982

Infectious diseases

asthma demographics, 1:119 Bruton agammaglobulinemia,

1:178–179 hair loss, 1:505

major histocompatibility complex, 2:699

sickle cell disease, 2:1050 teratogens, 2:1117

Inflammatory disease, 1:414–417 Inflammatory hair loss, 1:505

Inheritance, 1:606–611 gene pool, 1:461 gene structure, 1:455

genetic counseling, 1:468 oncogenesis, 2:836

Inherited giant platelet disorders, 2:1037–1038

Insomnia, fatal familial, 2:949–952

Insulin

Beckwith-Wiedemann syndrome, 1:147

Donohue syndrome, 1:345–347 gene mutations, 1:332, 335 pancreatic beta cell agenesis,

2:875–877

See also Diabetes mellitus

Insulin-dependent diabetes mellitus (IDDM)

classification, 1:328 demographics, 1:333 diagnosis, 1:334–335 genetics, 1:329, 331, 1:333

signs and symptoms, 1:333–334 syndromes with, 1:331

Insulin-like growth factor-1 Donohue syndrome, 1:347 pituitary dwarfism, 2:926–929

Insulin-like growth factor-2, 1:147

Intermittent porphyria, acute, 2:940–942

International Gastric Cancer Linkage Consortium, 2:1099–1102

International System for Human Cytogenetic Nomenclature (ISCN), 1:633

Intestinal malrotation, Cornelia de Lange syndrome, 1:279

Intestines, Tangier disease, 2:1111

Intra-arterial baffle, congenital heart defects, 1:269

Intracytoplasmic sperm injections, 1:632, 2:1229

Intrauterine growth retardation Neu-Laxova syndrome, 2:798 prenatal growth retardation with

pelvic hypoplasia, 1:106 Russell-Silver syndrome,

2:1014–1016 Wolf-Hirschhorn syndrome,

2:1205–1207

Index

GALE ENCYCLOPEDIA OF GENETIC DISORDERS

1329

Index

Intravenous pyelogram, Bardet-Biedl syndrome, 1:139

Intron, acid maltase deficiency, 1:25 Ionizing radiation, mutagen vs.

teratogen, 2:1116–1117

IRD (Infantile refsum disease),

1:603–605, 1: 982 Iris, albinism, 1:44 Iris coloboma, 1:255 Iron overload

beta thalassemia, 1:151–153 hemochromatosis, 1:518

Irreversible dementia, 1:320 Ischopagus, conjoined twins, 1:273 ISCN (International System for Human

Cytogenetic Nomenclature), 1:633 Ishihara test, color blindness, 1:259 Isoelectric focusing, sickle cell disease,

2:1052

Isolated choroideremia, 1:230 Isolated lissencephaly sequence,

1:674–676

Isomerism, asplenia, 1:112 Isotretinoin, accutane embryopathy,

1:10

Isovaleric acidemia (IA), 2:844 Isozymes, pyruvate kinase deficiency,

2:975–977 Isselbacher, K. J., 1:447

I J

Jackson-Weiss syndrome, 1:430,

1:613–615

Jacobsen, Petra, 1:615 Jacobsen syndrome, 1:615–618 Jagged 1 gene, 1:41–42

Jansen type dysplasia, 2:733–734 Jansky-Bielchowsky disease, 1:140 Japanese, Moyamoya, 2:749–750 Jarcho-Levin syndrome, 1:106 Jaundice

hereditary spherocytosis, 2:1077 sickle cell disease, 2:1051–1052 triose phosphate isomerase

deficiency, 2:1142–1143 Jervell, A., 1:618

Jervell and Lange-Nielsen syndrome (JLNS), 1:618–620, 1: 681–686

Jeune syndrome, 1:382

Jews, Ashkenazi. See Ashkenazi Jews JLNS (Jervell and Lange-Nielsen

syndrome), 1:618–620, 1: 681–686 Johannsen, Wilhelm, 1:455, 482 Joint Genome Institute, 1:565–566 Joseph, Atone, 1:135

Joseph disease, 1:135–136 Joubert, Marie, 1:620

Joubert syndrome, 1:620–623 , 622

Junctional epidermolysis bullosa, 1:391–393

Juvenile arthritis, 2:1155–1156

Juvenile GM1-gangliosidosis, 1:489–490

I K

Kabuki syndrome, 1:625–627 KAL gene, 1:628, 629 Kalaydijeva, L., 1:448

Kallman syndrome (KS), 1:627–629 Kanner, Leo, 1:130, 2:908 Kanners syndrome. See Autism Kartagener syndrome, 1:630–632

Karyotype, 1:633–634 , 634 Beckwith-Wiedemann syndrome,

1:147–148

chromosome analysis, 1:476–477 chromosome number and structure,

1:232, 240

deletion 22q11 syndrome, 1:314 Down syndrome, 1:351 hermaphroditism, 1:552–553 Jacobsen syndrome, 1:617 Patau syndrome, 2:892–893 Sotos syndrome, 2:1073

Turner syndrome, 2:1155 Kayser-Fleischer rings, 2:1200 KCNE1 gene, 1:683

Kennedy disease (KD), 1:85,

1:634–636

Keratoacanthomas, 2:758–760 Ketosis, 1:335–336

KFS (Klippel-Feil sequence),

1:639–641

Kidney disease

vs. Bardet-Biedl syndrome, 1:137–139

hemolytic-uremic syndrome, 1:522 methylmalonic acidemia, 2:737 nail-patella syndrome, 2:790–791 nephrogenic diabetes insipidus,

2:794

polycystic, 2:931–934 , 933–934 scleroderma, 2:1033–1034 sickle cell disease, 2:1051

Von Hippel-Lindau syndrome, 2:1175–1177

See also Renal failure

Kleeblattschadel anomaly, 2:1130–1133

Klinefelter syndrome, 1:636–638 microphthalmia with linear skin

defects, 2:742

sex chromosome aneuploidy, 1:234–235

XX male syndrome, 2:1219

Klippel-Feil sequence (KFS),

1:639–641

Kniest dysplasia, 2:1030

Knockout experiment, alcoholism, 1:49–50

Kossel, Albrecht, 1:343 Krabbe disease, 1:641–643 Krebs cycle. See TCA cycle

KS (Kallman syndrome), 1:627–629 Kufs disease, 1:140 Kugelberg-Welander disease, 2:1082 Kuroki, Y., 1:625

Kuru disease, 2:949–952 KVLQT1 gene, 1:683, 685

Kyphoscoliosis

campomelic dysplasia, 1:183–185 Ehlers-Danlos syndrome, 1:378

Kyphosis

diastrophic dysplasia, 1:337 Marfan syndrome, 2:708, 711

I L

L-Dopa

Huntington disease, 1:571 Parkinson disease, 2:886

Lactose, galactokinase deficiency, 1:447–449

Lamin A/C gene, 1:384–385 Lammer, Edward, 1:10 Lander, Eric, 1:567

Landouzy-Dejerine condition. See Facioscapulohumeral muscular dystrophy

Lange-Nielsen, F., 1:618

Langer-Giedion syndrome (LGS),

1:236, 1:645–646

Langer mesomelic dysplasia, 1:659 Laparatomy, 1:193

Laparoscopy defined, 1:193 liver cancer, 1:680

Larsen syndrome, 1:646–649, 2: 863 Larsson, Tage, 2:1061 Laser-assisted keratomileusis, 2:784 Laser surgery, 2:993

Late infantile neuronal ceroid lipofuscinosis, 1:140

Late-onset Alzheimer disease, 1:316 Late-onset cystinosis, 1:302 Late-onset Friedreich ataxia, 1:439 Lattice dystrophy, 1:275–277 Lawrence-Moon syndrome, 1:138–139

1330

GALE ENCYCLOPEDIA OF GENETIC DISORDERS

LCA (Leber congenital amaurosis),

1:649–652

L1CAM gene, 2:1214–1218

LCHAD (Long-chain 3-hydroxyacyl- CoA dehydrogenase), 2:844, 846

LDL (Low density lipoproteins), 1:6, 2:1109

Leber, Theodore, 1:649–650

Leber congenital amaurosis (LCA),

1:649–652

Lebers hereditary optic atrophy,

1:652–655

Lee, Pearl, 1:149

Leigh syndrome, 1:655–658

Leri-Weill dyschonodrosteosis (LWD),

1:658–660

Lejeune, Jerome, 1:290 Leloir, L. F., 1:447 Lemli, Luc, 2:1065

LEOPARD syndrome

multiple lentigenes syndrome, 2:768

vs. Noonan syndrome, 2:821 Leprosy, thalidomide therapy, 2:1128

Leptomeningeal angioma, 2:1103–1105

Leroy, Jules, 2:750–751

Leroy disease, 2:750–753, 2: 803 Lesch, Michael, 1:660

Lesch-Nyhan syndrome, 1:464,

1:660–662 , 661

Leukemia classification, 1:189

color blindness, 1:258 Li-Fraumeni syndrome, 1:665–666 sideroblastic X-linked anemia, 1:88

Leukocoria, 2:992–993

Leukodystrophy, 1:662–664 adrenoleukodystrophy, 1:37 infantile refsum disease, 1:603–605 Zellweger syndrome, 2:1225–1227

Leventhal, M. L., 2:935

Lewy body dementia, 1:316, 318 LFS. See Li-Fraumeni syndrome

LGMD. See Limb-girdle muscular dystrophy

LGS (Langer-Giedion syndrome),

1:236, 1:645–646

Li-Fraumeni syndrome (LFS),

1:665–668 , 667 defined, 1:193

stomach cancer, 2:1099 Lichen planopilaris, 1:505

Lifetime risk, cancer demographics, 1:190

Light sensitivity, 1:21–23

LIM homeobox transcription factor 1- beta, 2:789

Limb-girdle muscular dystrophy (LGMD), 1:668–673 , 669, 671

classification, 2:769 genetic profile, 2:770–772 signs and symptoms, 2:773

LIMK1 gene, 2:1196 Lindau, Arvid, 2:1173

Linkage analysis

Bardet-Biedl syndrome, 1:137–139 Duchenne muscular dystrophy,

1:363

familial adenomatous polyposis, 1:410–411

genetic mapping, 1:457 indirect DNA testing, 1:476 Osler-Weber-Rendu syndrome,

2:852

Treacher Collins syndrome, 2:1141

Lipid metabolism

carnitine palmitoyltransferase deficiency, 1:201–202 hyperlipoproteinemia, 1:582

mucolipidosis, 2:751 Lipofuscinosis, 1:140 Lipomas, 1:39 Lipopigments, 1:140 Lipoproteins, 1:6, 582

LIS1 gene

lissencephaly, 1:675–676 Miller-Dieker syndrome, 2:744–746

Lissencephaly, 1:673–676 , 675 Miller-Dieker syndrome, 2:744–746 Walker-Warburg syndrome,

2:1187–1188

Lithium carbonate

bipolar disorder type II, 1:161–162 nephrogenic diabetes insipidus,

2:794

Lithotripsy, cystinuria, 1:307 Little People of America, 1:20

Liver biopsy

hemochromatosis, 1:519–520 liver cancer, 1:679

Liver cancer, 1:677–681 , 679 alcohol abuse and, 1:190 risk factors, 1:678

Liver disease

Alagille syndrome, 1:42 alpha-1 antitrypsin, 1:62–63 asplenia, 1:114

color blindness, 1:257–258 hemochromatosis, 1:519–520 Wilson disease, 2:1198–1201

Liver function test, 1:52

Liver transplantation, 1:680, 2:849–850

Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD), 2:844, 846

Long-chain acyl-CoA dehydrogenase (LCAD), 2:843

Long-chain fatty acids, 1:202

Long-QT syndrome (LQTS),

1:681–686

drug contraindications, 1:684 Jervell and Lange-Nielsen

syndrome, 1:618–620 Longitudinal study, alcoholism, 1:49 Lorenzo’s oil, 1:37

Loss of heterozygosity, 1:541

Lou Gehrig’s disease, 1:79–82 , 80–81

Low density lipoproteins (LDL), 1:6, 2:1109

Lowe syndrome, 1:687–690 , 689

LQTS. See Long-QT syndrome (LQTS)

Lung transplantation, 1:300–301

Lungs

asplenia and defects in, 1:114 chronic lung disease, 1:62 cystic fibrosis, 1:297

Fryns syndrome, 1:443

Lupus erythematosus hair loss, 1:505

Raynaud disease, 2:979

Luteinizing hormone

Kallman syndrome, 1:628–629 Klinefelter syndrome, 1:637–638

LWD (Leri-Weill dyschonodrosteosis),

1:658–660

Lymphedema distichiasis, 1:581 Lymphoma, 1:189

Lynch syndrome. See Muir-Torre syndrome

Lysosomal storage disease galactosialodosis, 2:807–808 GM1-gangliosidosis, 1:487–490 mannosidosis, 2:704–706 mucolipidosis, 2:751 neuraminidase deficiency, 2:803

Lysosome, Batten disease, 1:140 LYST gene, 1:226

I M

Machado, William, 1:135 Machado-Joseph disease, 1:135–137 Macroglossia, 1:147–149

Macula pigmentation neuroaminidase deficiency,

2:807–811

Niemann-Pick disease, 2:814–815 Macular corneal dystrophy, 1:275–277

Macular degeneration age-related, 2:691–695 , 694 color blindness, 1:258

Mad cow disease, 2:949–952 Madelung’s deformity, 1:659

Index

GALE ENCYCLOPEDIA OF GENETIC DISORDERS

1331

Index

Maffuci disease, 1:227–228 Magenis, Ellen, 2:1068 Magnani, M., 1:448

Magnetic resonance imaging (MRI) adrenoleukodystrophy, 1:37 Aicardi syndrome, 1:40 alkaptonuria, 1:59

ankylosing spondylitis, 1:94, 96 Arnold-Chiari malformation, 1:103 breast cancer, 1:175

cancer screening, 1:194

congenital heart defects, 1:268–269 conjoined twins, 1:274

epilepsy, 1:395 hemochromatosis, 1:519 Moyamoya, 2:749 Pelizaeus-Merzbacher disease,

2:900

spinocerebellar ataxia, 2:1086 Majewski syndrome, 2:1044–1046

Major histocompatibility complex (MHC), 2:696–700

Male pattern hair loss, 1:504–508

Male Turner syndrome. See Noonan syndrome

Malignant hyperthermia (MH),

2:700–704

central core disease, 1:212 Freeman-Sheldon syndrome, 1:438 muscular dystrophy, 2:775 pharmacogenetics, 2:917–918 Schwartz-Jampel syndrome, 2:1031

Malrotation, asplenia, 1:112 MANB/MANB1 gene, 2:705–706 Manic-depressive. See Bipolar disorder Mannosidosis, 2:704–706

Marchiafava-Micheli syndrome,

2:888–890

Marden-Walker syndrome, 2:1030

Marfan syndrome, 2:706–712 vs. Cohen syndrome, 1:255

congenital heart defects, 1:268 homocystinuria, 1:564 Shprintzen-Goldberg

craniosynostosis syndrome, 2:1046

Marfanoid habitus, 1:105 Marie, Pierre, 1:29

Marker X syndrome. See Fragile X syndrome

Maroteaux-Lamy syndrome, 2:756 Marshall, D., 2:712–713

Marshall-Smith syndrome (MSS),

2:714–716

Marshall syndrome, 2:712–714 Stickler syndrome, 2:1094–1095 Weissenbacher-Zweymuller

syndrome, 2:1192

Martin-Bell syndrome. See Fragile X syndrome

Mason, H. H., 1:447 Masseter spasm, 2:701

Maternal age

chromosomal abnormalities, 1:237–238

Down syndrome, 1:348–349, 351 Patau syndrome, 2:891

Maternal serum alpha-fetoprotein test Down syndrome, 1:351

trisomy 18 diagnosis, 2:1147

Maturity-onset diabetes of the young classification, 1:328

diagnosis, 1:335 genetics, 1:332

signs and symptoms, 1:334 May-Hegglin anomaly, 2:1037

MCAD (Medium chain acyl-CoA dehydrogenase deficiency),

2:717–720, 2: 843, 845–846

McCune-Albright syndrome, 1:30,

2:720–722 , 722

McKusick-Kaufmann syndrome,

1:138–139, 2:722–724 , 724

McKusick type dysplasia, 2:733–734

MCM (Methylmalonicaciduria due to methylmalonic CoA mutase deficiency), 2:738–740, 2: 844

MDS. See Miller-Dieker syndrome

Mean corpuscular volume (MCV),

1:52

Meckel, Johann F., 2:725, 727

Meckel-Gruber syndrome (MGS),

2:726–729

Meckel’s diverticulum, 1:279, 281,

2:724–726 , 726

Meconium ileus, cystic fibrosis, 1:296

Medium chain acyl-CoA dehydrogenase deficiency (MCAD),

2:717–720, 2: 843, 845–846

Medullary thyroid carcinoma, 2:764–765

Medulloblastoma, 1:194

Meesman’s corneal dystrophy, 1:275–277

MEFV gene, 1:414–416

Meiosis

chromosome structure, 1:236 trisomy 18, 2:1145

Melanin albinism, 1:44

alkaptonuria, 1:57 Hermansky-Pudlak syndrome,

1:549–551 Melanoma, 1:189

MELAS syndrome, 1:331, 332 Melnick, M., 1:171

Melnick-Fraser syndrome, 1:170–173 ,

172

Melnick-Needles syndrome, 2:863–864

MEN-1 (Multiple endocrine neoplasia-1), 1:30–32, 1:763–767

MEN-2 (Multiple endocrine neoplasia-2), 1:478, 763–767, 836

MEN-3 (Multiple endocrine neoplasia-3), 2:763–767

MEN1 gene, 2:765–766

Mendel, Gregor, 1:55, 57, 342, 455,

606

Mendelian inheritance, 1:606–609 autosomal dominant, 1:606–607 autosomal recessive, 1:607 autosomal semi-dominant, 1:607 sex-linked, 1:607–609

Meningomyelocele. See Spina bifida

Menkes syndrome, 2:729–732

Mental status examination (MSE), 1:319–320

Mercaptopropionylglycine, cystinuria, 1:307

Meromelia, 1:70

Merrick, Joseph (John), 2:961

Merzbacher, L., 2:899

Mesobrachyphalangy, 2:825–826

Mesomelia, Leri-Weill

dyschonodrosteosis, 1:659

Messenger RNA (mRNA), 1:456,

2:1004–1005

Metabolic myopathies, 1:203

Metabolism

cholesterol, 1:557, 2:1065–1068, 1109–1112

copper, 2:731–732, 1198–1201 inborn error of (See Inborn error of

metabolism)

lipid, 1:201–202, 582, 2:751 nitrogen, 2:847–850

Metachromatic leukodystrophy, 1:663

Metafemales, sex chromosome aneuploidy, 1:235

Metaphyseal acroscyphodysplasia, 2:735

Metaphyseal anadysplasia, 2:733–734

Metaphyseal dysplasia, 2:733–735

Metarhodopsin II, 2:1000

Metastatic liver cancer, 1:677

Methionine

homocystinuria, 1:562–565 prion diseases, 2:950–952

3-Methylcrotonglycemia, 2:844

Methylene H4-folate molecule, homocystinuria, 1:564–565

Methylmalonic acidemia (MMA),

2:735–737

pancreatic beta cell agenesis, 2:875–876

symptoms, 2:844

1332

GALE ENCYCLOPEDIA OF GENETIC DISORDERS

Methylmalonicaciduria due to methylmalonic CoA mutase deficiency, 2:738–740, 2: 844

Metopic craniosynostosis, 1:288

Metronidazole, methylmalonicaciduria, 2:740

MH. See Malignant hyperthermia

MHC (Major histocompatibility complex), 2:696–700

MHS genes, 2:702–703

Michigan Alcoholism Screening Test,

1:52

Microarray, alcoholism, 1:49–50

Microcephaly

accutane embryopathy, 1:12 Cornelia de Lange syndrome, 1:279 Dubowitz syndrome, 1:358 Neu-Laxova syndrome, 2:797 Paine syndrome, 2:871–872 Smith-Lemli-Opitz syndrome,

2:1065–1068

Micrognathia

Cornelia de Lange syndrome, 1:279 Pierre-Robin sequence, 2:922–925

Micromelia achondrogenesis, 1:15

thanatophoric dysplasia, 2:1130

Microphthalmia with linear skin defects, 2:741–743

Aicardi syndrome, 1:39 Goltz syndrome, 1:494

Microsomal triglyceride transfer protein (MTP), 1:5

Mid-trimester amniocentesis, 1:77–78 Miescher, Johann, 1:342

Mild androgen insensitivity, 1:83–86 Mild persistent asthma, 1:120 Miller, J., 2:744

Miller-Dieker syndrome (MDS), 1:236, 675–676, 2:744–746

Milwaukee brace, scoliosis, 2:1036

Mineral supplementation, cystinosis, 1:304

Minoxidil, hair loss treatment, 1:507–508

Mirhosseini-Holms-Walton syndrome,

1:252–255

Miscarriage, 1:13, 78

Misoprostol, Möebius syndrome, 2:747–748

Mitochondrial DNA diabetes mellitus, 1:335

hereditary hearing loss and deafness, 1:537–538

inheritance, 1:606

inheritance characteristics, 1:610 Lebers hereditary optic atrophy,

1:653–655

Leigh syndrome, 1:656

Mitral valve prolapse Beals syndrome, 1:142 Fabry disease, 1:402

Marfan syndrome, 2:708 Stickler syndrome, 2:1096

Mixed type hearing loss, 1:536 MKKS gene, 1:137–139 MKS gene, 2:723–724

MMA. See Methylmalonic acidemia MNK gene, 2:729–731

Moderate asthma, 1:120 Möebius syndrome, 2:747–748 Molar pregnancy, 2:1229

Mondini malformation, 2:904–905

Monoamine oxidase B, Parkinson disease, 2:886–887

Monoamine oxidase inhibitors depression management, 1:327 panic disorder, 2:883

Monozygous twins, 1:7–8

Morgan, Thomas Hunt, 1:342, 456–457

Morning glory syndrome, 1:255–256 Morquio syndrome, 2:756

Mosaic trisomy 18, 2:1146

Mosaicism

fragile X syndrome, 1:431 germ line (See Germ line

mosaicism) gonadal, 2:1131–1132 pedigree analysis, 1:611

Proteus syndrome, 2:961 thanatophoric dysplasia, 2:1131 Turner syndrome, 2:1155

Motilin receptors, pyloric stenosis, 2:968

Motor/vocal tics, 2:1137 Moyamoya, 2:748–750

MPS. See Mucopolysaccharidoses MPTP, Parkinson disease, 2:885

MRI. See Magnetic resonance imaging MRP6 gene, 2:966–967

MSH 1 and 2 genes, 1:478

MSS (Marshall-Smith syndrome),

2:714–716

MSX1 gene, 1:245 MSX2 gene, 1:205, 287

MTP (Microsomal triglyceride transfer protein), 1:5

Mucolipidosis (ML), 2:750–753, 2: 803

Mucopolysaccharidoses (MPS),

2:753–757

Hunter syndrome, 1:567–569 Hurler syndrome, 1:572–575 Schwartz-Jampel syndrome, 2:1030

Muenke syndrome, 1:287

Muir-Torre syndrome, 2:757–760 , 759 Multi-infarct dementia, 1:316–318

Multi-Torre syndrome, 1:531–533

Multifactorial inheritance, 2:760–763 autism, 1:130

celiac disease, 1:208 cleft lip and palate, 1:241 encephalocele, 1:387

hydrops fetalis, 1:580–581 macular degeneration age-related,

2:692–695

patent ductus arteriosus, 2:895–896 zygote formation, 2:1229

Multifocal breast cancer, 1:194

Multigenerational studies, alcoholism genetics, 1:48–49

Multiorgan CPT-II deficiency, 1:203

Multiple births, cerebral palsy, 1:214–215

Multiple endocrine neoplasia-1 (MEN- 1), 1:30–32, 2:763–767

Multiple endocrine neoplasia-2 (MEN- 2), 1:478, 2:836

Multiple endocrine neoplasia-3 (MEN- 3), 2:763–767

Multiple endocrine neoplasias,

2:763–767 , 765

Multiple lentigenes syndrome,

2:768–769, 2: 821

Multiple sclerosis

color blindness, 1:258

Lebers hereditary optic atrophy, 1:654

Muscle biopsy

Duchenne muscular dystrophy, 1:362–363

muscular dystrophy, 2:774 Muscle CPT deficiency, 1:203 Muscular atrophy, 1:6

Muscular dystrophy, 2:769–776 , 775 vs. acid maltase deficiency, 1:23 Duchenne muscular dystrophy,

1:359–363

Emery-Dreifuss muscular dystrophy (See Emery-Dreifuss muscular dystrophy)

vs. Engelmann disease, 1:390 FSH muscular dystrophy,

1:444–446

genetic counseling, 1:470 vs. leukodystrophy, 1:664

limb-girdle muscular dystrophy, 1:668–673

Walker-Warburg syndrome, 2:1187–1188

Mut0 gene, 2:738–740 Muton, gene structure, 1:455

Myalgia, familial Mediterranean fever, 1:416

Myasthenia gravis, 2:776–779

Myelin

adrenoleukodystrophy, 1:37 Krabbe disease, 1:641–643

Index

GALE ENCYCLOPEDIA OF GENETIC DISORDERS

1333

Index

Myelin protein zero gene, 1:219–220 Myelodysplasia, 1:87

Myelogenous leukemia, 1:419 MYO5A, 1:499

Myoblast transfer, muscular dystrophy, 2:776

Myopathies, 1:25, 203

Myopia, 2:780–784 , 783

Bardet-Biedl syndrome, 1:138 Beals syndrome, 1:142–143 choroideremia, 1:230

Cohen syndrome, 1:254

Cornelia de Lange syndrome, 1:280 homocystinuria, 1:563

Marfan syndrome, 2:708 Marshall syndrome, 2:713 Schwartz-Jampel syndrome,

2:1029–1031

Myosin heavy chain 9 gene, 2:1038

Myosin VA protein, Griscelli syndrome, 1:499

Myotonia

myotonic dystrophy, 2:786–787 Rieger syndrome, 2:1002

Myotonic dystrophy (DM), 2:785–788 ,

786–787 classification, 2:770

genetic profile, 2:772 hydrops fetalis, 1:581 Rieger syndrome, 2:1002 Schwartz-Jampel syndrome

diagnosis, 2:1030

signs and symptoms, 2:773

Myotonic dystrophy protein kinase, 2:785–788

Myotrophin, amyotrophic lateral sclerosis, 1:82

I N

N-Acetylaspartic acid, Canavan disease, 1:186

Nail-patella syndrome, 2:789–791 , 791 Naltrexone, 1:49, 53

Narcolepsy, 2:791–793 , 793 Nasolacrimal duct fistula, 1:280

National Cholesterol Education Program, 1:583

National Library of Medicine-Breath of Life Exhibit, 1:119

Natito-Oyanagi disease, 1:321–323

Natural immunity, major histocompatibility complex, 2:696

Natural selection, gene mutation, 1:459 NBS1 gene, 2:817

NBS (Nijmegen breakage syndrome),

2:816–818

ND (Norrie disease), 2:822–824

NDI (Nephrogenic diabetes insipidus),

2:793–796

NDP protein, Norrie disease, 2:822–823

Negative pressure ventilation, spinal muscular atrophy, 2:1083

NEMO gene, 1:600–603 Neonatal diabetes mellitus, 2:876

Neonatal hypoglycemia, 1:146, 148

Neonatal pyruvate carboxylase deficiency, 2:970–972

Nephrogenic diabetes insipidus (NDI),

2:793–796

Nerve growth factor, Alzheimer disease, 1:69

NEU1 gene, 2:802–804 Neu-Laxova syndrome, 2:797–799

Neural crest cells, neurofibromatosis, 2:811–813

Neural migration disorders, 1:673–676

Neural tube defects, 2:800–802 , 801 anencephaly, 1:89–90 encephalocele, 1:387–389 multifactorial inheritance,

2:761–762

Neuraminidase deficiency, 2:802–807 galactosialodosis, 2:810 mucolipidosis, 2:751 nomenclature, 2:802–803

Neuraminidase deficiency with beta galactosidase deficiency, 2:807–811

Neurofibromatosis (NF), 2:811–813 ,

812

Noonan syndrome, 2:818–821 pedigree analysis, 2:897

Neuroimaging

Alzheimer disease, 1:65, 68 Asperger syndrome, 1:110–111 demential diagnosis, 1:320 Leigh syndrome, 1:656

panic disorder, 2:882–883

Neurological examination, dementia, 1:320

Neuromuscular conditions, 1:6 Neuronal ceroid lipofuscinoses, 1:140

Neuropathies adrenomyeloneuropathy, 1:36–37 hereditary sensory and autonomic,

1:412

with liability to pressure palsies, 1:219

Nevi, 1:166–167

Nevoid basal cell carcinoma syndrome, 1:494

Newborn screening

chromosome analysis, 1:479–480 congenital adrenal hyperplasia,

1:265

cystic fibrosis, 1:299 galactokinase deficiency, 1:449 galactosemia, 1:451–452 MCAD, 2:719

See also Genetic testing NF. See Neurofibromatosis NF genes, 2:811–813 NFH gene, 1:81

Nibrin gene, 2:817

NIDDM. See Non-insulin dependent diabetes mellitus

Niemann-Pick disease (NPD),

2:813–816

Nifedipine, 2:1034 Night blindness, 2:1000 Night use brace, 2:1037 Niikawa, N., 1:625

Nijmegen breakage syndrome (NBS),

2:816–818

Nitrogen metabolism, 2:847–850 Noack syndrome, 1:205, 2:914

Nonclassical congenital adrenal hyperplasia-21, 1:262, 264

Noncommunicating hydrocephalus, 1:575–577

Nonimmune hydrops fetalis, 1:579–581, 2:809

Noninflammatory diffuse hair loss, 1:504–505

Noninflammatory patterned hair loss, 1:503–504

Non-insulin dependent diabetes mellitus (NIDDM)

classification, 1:328 demographics, 1:333 diagnosis, 1:334–335

genetics, 1:331, 1:331–332, 1:335 insulin gene mutations, 1:332, 335,

345

signs and symptoms, 1:332–334 syndromes associated with,

1:332–333

Non-penetrance, FSH muscular dystrophy, 1:444–446

Nonsense mutations, 1:458–459 Nonsurgical hair additions, 1:508 Nonsyndromic hearing loss, 1:536–537

Nonverbal learning disability Asperger syndrome, 1:110 defined, 1:109

Noonan, C. D., 2:1044 Noonan, Jacqueline, 2:818

Noonan syndrome, 2:818–821 vs. Aarskog syndrome, 1:2

vs. cardiofaciocutaneous syndrome, 1:199

defined, 1:200

Normal pressure hydrocephalus, 1:575–577

1334

GALE ENCYCLOPEDIA OF GENETIC DISORDERS

Norman-Landing disease, 1:487–490, 2:807

Norrie disease (ND), 2:822–824 Nosebleeds, 2:852–853

NPD (Niemann-Pick disease),

2:813–816

NPR1 gene, 2:986 Nucleic acids, 1:342–343 Nucleotide sequence

Azorean disease, 1:135 bipolar disorder type II, 1:160 fragile X syndrome, 1:431

Nurogenic arthrogryposis, 1:106 Nutrition. See Diet and nutrition Nyhan, William, 1:660 Nystagmus

albinism, 1:44

Cornelia de Lange syndrome, 1:280

I O

Obesity-hypotonia syndrome,

1:252–255

Obligate carrier, 1:306 Obsessive-compulsive disorder (OCD)

vs. Asperger syndrome, 1:110 Fahr disease, 1:406

Tourette syndrome, 2:1138 Obstruction heart defects, 1:266–267,

268

Occipital encephalocele, 1:387–388 Occipital horn syndrome, 2:729 Occupational hazards, cancer

demographics, 1:191 Occupational therapy, muscular

dystrophy, 2:775

OCD. See Obsessive-compulsive disorder

Ochronosis, alkaptonuria, 1:56–60 OCRL1 gene, 1:687–690

Ocular albinism, 1:44 Ocular hypertelorism, 1:2

Oculo-auriculo-vertebral spectrum,

1:491–493, 2: 1141 Oculo-digito-esophago-duodenal

syndrome (ODED), 2:825–826 Oculocutaneous albinism, 1:44 Oculomandibulodyscephaly with

hypotrichosis, 1:509–511 Oculomandibulofacial syndrome,

1:509–511

Oculopharyngeal muscular dystrophy classification, 2:770

genetic profile, 2:772

signs and symptoms, 2:773–774

ODED (Oculo-digito-esophago- duodenal syndrome), 2:825–826

Odontohypophosphatasia, 1:589 Okihiro syndrome, 1:355–356

Oligohydramnios sequence,

2:827–830 , 829

Ollier disease, 1:227–228

Omphalocele, 2:830–833 Beckwith-Wiedemann syndrome,

1:146–148

Carpenter syndrome, 1:207 Omphalopagus, conjoined twins, 1:273 Oncogenes, 1:478–479, 2:833–836

OPD (Otopalatodigital syndrome),

2:863–865 , 865

Opitz, John M., 2:1065, 1225 Opitz syndrome, 2:837–840 , 840 Oppenheim, Hermann, 1:370 Oppositional defiant disorder, 1:110 Opsin, rhodopsin, 2:1000

Optic atrophy, 1:652–655 Optic disc coloboma, 1:255 Oral alkalinization, 1:307

Oral-facial-digital syndrome,

2:841–843 , 843

Oral loading test, cystinuria, 1:306

Organ transplantation cystinosis, 1:304

major histocompatibility complex, 2:697, 699

Organic acidemias, 2:843–846

Ornithine transcarbamylase deficiency (OTC), 2:847–850, 2: 1159–1160

Osler-Weber-Rendu syndrome (OWR),

2:850–854 , 853

Ossification, achondrogenesis, 1:15

Osteoarthritis, 2:853–856 alkaptonuria diagnosis, 1:59 Ehlers-Danlos syndrome, 1:378 Marshall syndrome, 2:712–713

Osteogenesis imperfecta, 1:284–285,

2:856–859 , 859

Osteoma, 1:194

Osteoporosis, 2:860–863 , 862 ankylosing spondylitis, 1:94 homocystinuria, 1:563 Klinefelter syndrome, 1:638 metaphyseal dysplasia, 2:733 Werner syndrome, 2:1193–1194 Wilson disease, 2:1200

OTC (Ornithine transcarbamylase deficiency), 2:847–850, 2: 1159–1160

Otopalatodigital syndrome (OPD),

2:863–865 , 865

Otosclerosis, 1:537–538

Otospondylomegaepiphyseal dysplasia,

2:1190–1192

Ovarian cancer, 2:866–869

BRCA 1 and 2 genes, 1:174 genetic counseling, 1:470 hereditary component, 1:189 susceptibility testing, 1:478–479

Ovaries, polycystic, 2:935–938 , 937 Ovarioleukodystrophy, 1:662, 664

OWR (Osler-Weber-Rendu syndrome),

2:850–854 , 854

Oxidoreductases, 2:972–975

I P

p16 gene, 1:192

p53 gene, 1:666–667

5p minus syndrome, 1:236, 1:289–291 Paget’s disease, 1:390

PAHX/PHYH gene, 2:982 Paine syndrome, 2:871–872

Palliative therapy, cancer management, 1:196, 880

Pallister, Philip D., 2:873

Pallister-Hall syndrome, 1:497–498,

2:873–874

Pancreatic beta cell agenesis,

2:875–877

Pancreatic cancer, 2:877–880 , 879–880 hereditary pancreatitis, 1:545 multiple endocrine neoplasia-1,

2:763

Pancreatic disease

cancer (See Pancreatic cancer) hereditary pancreatitis (See

Hereditary pancreatitis) insulin-dependent diabetes mellitus,

1:331

non-insulin dependent diabetes mellitus, 1:332–333

Von Hippel-Lindau syndrome, 2:1175–1177

Panic attacks, 2:881–884 Panic disorder, 2:881–884

Papillon-Lefevre syndrome, 1:501–503 Paranoid schizophrenia, 2:1023 Parapagus, conjoined twins, 1:273 Parasitic twins, 1:273

Parathyroid glands, Fahr disease, 1:407

Parathyroid hormone, multiple endocrine neoplasia-1, 2:766

Parentage, human leukocyte antigen, 2:699

Parkinson disease (PD), 2:884–887 vs. Alzheimer disease, 1:65

vs. Azorean disease, 1:136 color blindness, 1:258

Paroxysmal nocturnal hemoglobinuria (PNH), 2:888–890

Partial androgen insensitivity, 1:83–86

Index

GALE ENCYCLOPEDIA OF GENETIC DISORDERS

1335

Index

Partial 11q monosomy syndrome,

1:615–618

Partial trisomy 18, 2:1146 Patau, Klaus, 2:890

Patau syndrome, 1:234, 2:890–893 ,

892

Patent ductus arteriosus (PDA),

2:893–896 , 895 achondrogenesis, 1:15 characteristics, 1:266

Cornelia de Lange syndrome, 1:280 signs and symptoms, 1:268

PAX3 gene, 2:1184 PCCA gene, 2:955–957 PCCB gene, 2:955–957

PCD (Pyruvate carboxylase deficiency), 2:970–972

PCOS (Polycystic ovary syndrome),

2:935–938 , 937

PCR/FRET analysis, 2:719 PD. See Parkinson disease

PDA. See Patent ductus arteriosus

PDD. See Pervasive developmental disorders

PDHA1 gene, 2:973–974 Pearson’s syndrome, 1:87

Pectus carinatum

Marfan syndrome, 2:708, 711 Schwartz-Jampel syndrome,

2:1029–1031

Pectus excavatum, Marfan syndrome, 2:708, 711

Pediatric genetic counseling, 1:470

Pedigree analysis, 2:896–899 , 898 genetic counseling, 1:470–471 inheritance patterns, 1:610–611 multifactorial inheritance, 2:760

Pegvisomant, acromegaly, 1:32 Pelizaeus, F., 2:899

Pelizaeus-Merzbacher disease (PMD),

1:547–549, 2:899–901

Pendred syndrome, 2:902–906

D-Penicillamine cystinuria, 1:307

scleroderma, 2:1033–1034 Wilson disease, 2:1200–1201

Penicillin, sickle cell disease, 2:1054 Pepper syndrome, 1:252–255 Perinatal hypophosphatasia, 1:588

Periodontosis, Haim-Munk syndrome, 1:501–503

Peripheral myelin protein 22, Charcot- Marie-Tooth disease, 1:219

Peripheral nervous system, Charcot- Marie-Tooth disease, 1:219

Peripheral stem cell transplantation, 1:197–198

Perlecan protein, 2:1029

Perlman syndrome, 1:148 Peroxisome targeting sequence 2,

rhizomelic chondrodysplasia punctata, 2:997–999

Peroxisomes adrenoleukodystrophy, 1:37

infantile refsum disease, 1:603–605 rhizomelic chondrodysplasia

punctata, 2:997–999

Zellweger syndrome, 2:1225–1227 Pervasive developmental disorders

(PDD), 2:906–910

Asperger syndrome, 1:109 autism, 1:130

not otherwise specified, 2:907–908 Peutz-Jeghers syndrome (PJS),

2:910–913 defined, 1:194

stomach cancer, 2:1099 PEX1 and 2 genes

infantile refsum disease, 1:604–605 Zellweger syndrome, 2:1226

PEX7 gene, 2:997–999 Pfeiffer syndrome, 2:914–917

classification, 1:205 craniosynostosis, 1:287 fibroblast growth factor receptor

mutations, 1:429–430 Jackson-Weiss syndrome,

1:613–615 Pharmacogenetics, 2:917–918 Phenocopy, 1:252, 1:278–282 Phenothiazines, 2:944 Phenotype, 1:482–483 Phenotypic variance, 1:483 Phenylalanine

alkaptonuria, 1:57 phenylketonuria, 2:922

Phenylalanine hydroxylase, phenylketonuria, 2:919–923

Phenylketonuria (PKU), 2:919–923 autism, 1:131

galactokinase deficiency, 1:449 Pheochromocytoma

multiple endocrine neoplasia-2A, 2:764–766

Von Hippel-Lindau syndrome, 2:1175–1177

PHEX gene, 1:591–593 Phocomelia. See Roberts SC

phocomelia

Phosphate deficiency, McCuneAlbright syndrome, 2:721–722

Photorefractive keratectomy, 2:783–784

Photosensitivity, 1:21–23 Physical therapy

muscular dystrophy, 2:775 Parkinson disease, 2:886 Phytanic acid, Refsum disease,

2:982–985

PI gene, 1:61–62 PI M gene, 1:61 Pi M protein, 1:61 Pi protein, 1:61

PI S gene, 1:61–62 PI Z gene, 1:61–62

Pick’s disease, 1:316, 318 Piebaldism, 1:45

Pierre-Robin sequence, 2:922–925 Stickler syndrome, 2:1095 Weissenbacher-Zweymuller

syndrome, 2:1191–1192 PIG-A gene, 2:888–889

Pigmentation, 1:419, 2:807–811, 814–815, 1185

Pili torti, Menkes syndrome, 2:730

Pituitary dwarfism, 2:926–929 ,

927–928

Pituitary gland

acromegaly and, 1:29–32 multiple endocrine neoplasia-1,

2:763–764, 766–767 pituitary dwarfism, 2:926–929,

2:927–928

PJS. See Peutz-Jeghers syndrome PKD1 gene, 2:932

PKD (Polycystic kidney disease),

2:931–934 , 933–934

PKD (Pyruvate kinase deficiency),

2:975–977, 2: 1143 PKLR gene, 2:976 PKM2 gene, 2:976

Plaque formation, Alzheimer disease,

1:65

Plasma exchange, myasthenia gravis, 2:779

Plasmapheresis, 2:985

Platelets albinism, 1:44

thrombasthenia of Glanzmann and Naegli, 2:1133–1136

Pleurisy, familial Mediterranean fever, 1:416

PLOD gene, 1:378 PLP gene, 2:899–901

PLP null syndrome, 2:900

PMD (Pelizaeus-Merzbacher disease),

1:547–549, 1:899–901

PNH (Paroxysmal nocturnal hemoglobinuria), 2:888–890

Poikiloderma, 2:1010 Point mutation, 1:458–459 Poland, Alfred, 2:929 Poland anomaly, 2:929–931

Poland-Möebius syndrome, 2:748 Polycystic fibrous dysplasia, 1:30

Polycystic kidney disease (PKD),

2:931–934 , 933–934

1336

GALE ENCYCLOPEDIA OF GENETIC DISORDERS

Polycystic ovary syndrome (PCOS),

2:935–938 , 937

Polydactyly

acrocallosal syndrome, 1:27 Ellis-van Creveld syndrome, 1:382,

382

gene mutation, 1:459, 459 Meckel-Gruber syndrome,

2:727–728

Polygenic trait alcoholism, 1:49 asthma, 1:116

Polyhydramnios achondrogenesis, 1:15

thanatophoric dysplasia, 2:1131 Polymer, alkaptonuria, 1:57 Polymyositis, Raynaud disease, 2:979

Polyostotic fibrous dysplasia, 1:30,

2:720–722 , 722

Polyploidy, chromosomal abnormalities, 1:235, 1:235–236

Polyps, Peutz-Jeghers syndrome, 2:910–913

Polysyndactyly, 1:496–498 Pompe, J. C., 1:23

Pompe disease, 1:23–26

Popliteal pterygium syndrome, 2:1167 Population genetics, 1:460

Porphyria cutanea tarda, 2:941–942, 944

Porphyrias, 2:938–944

causes and symptoms, 2:941–942 characteristics, 2:938–939 classification, 2:939–941

Port-wine stains, Sturge-Weber syndrome, 2:1103–1105

Post-axial polydactyly type A Greig cephalopolysyndactyly

syndrome, 1:497

Pallister-Hall syndrome, 2:873–874

Posterior embryotoxon, Alagille syndrome, 1:42

Posterior polymorphous dystrophy, 1:275–277

Postmenopausal osteoporosis, 2:860–863

Postnatal conditions, cerebral palsy, 1:214

Potassium, long-QT syndrome, 1:686 PPGB gene, 2:808–809

Prader-Willi syndrome, 2:945–948 chromosomal deletions, 1:236–237 vs. Cohen syndrome, 1:255 genetic imprinting, 1:91

Pre-mRNA, 1:456

Prechordal plate, holoprosencephaly, 1:557

Precocious puberty, 2:1016

Predictive testing

myotonic dystrophy, 2:787 spinocerebellar ataxia, 2:1086

Prednisone, muscular dystrophy, 2:774–775

Pregnancy

associated plasma protein-A, 1:280 molar, 2:1229

phenylketonuria and, 2:922 See also Maternal age; terms beginning with Prenatal

Preimplantation genetic diagnosis sickle cell disease, 2:1052 zygote formation, 1229

See also Genetic testing

Premature centromeric separation, 1:72

Premature rupture of membranes, 2:827–830

Prematurity, cerebral palsy, 1:214–215

Premutation, fragile X syndrome, 1:431–432

Prenatal genetic counseling, 1:469, 471 See also Genetic counseling

Prenatal growth retardation, 1:106

Prenatal testing

chromosome analysis, 1:237–238, 479–480

congenital adrenal hyperplasia, 1:264–265

Cornelia de Lange syndrome, 1:280 deletion 22q11 syndrome, 1:314 fibroblast growth factor receptor

mutations, 1:428–430 galactosialodosis, 2:810 genetic testing, 1:474 hypochondroplasia, 1:586–587 Miller-Dieker syndrome, 2:746 myotonic dystrophy, 2:787 neuraminidase deficiency, 2:806 Opitz syndrome, 2:840

osteogenesis imperfecta, 2:858–859 Pelizaeus-Merzbacher disease,

2:901

Pfeiffer syndrome, 2:916–917 Rieger syndrome, 2:1002

severe combined immunodeficiency, 2:1043

Sjögren-Larsson syndrome, 2:1063 Smith-Lemli-Opitz syndrome,

2:1067

spina bifida, 2:1080–1081 spinocerebellar ataxia, 2:1087 spondyloepiphyseal dysplasia,

2:1090–1091

Stickler syndrome, 2:1096–1097 Williams syndrome, 2:1197 Wiskott-Aldrich syndrome,

2:1203–1204

See also Genetic testing Presenilin 1 gene, 1:66 Presenilin 2 gene, 1:66

Presymptomatic genetic testing, 1:478

Preventive surgery, cancer management, 1:196

Priapism, sickle cell disease, 2:1051 Primary ciliary dyskinesia, 1:630–632 Primary dementia, 1:316

Primary immunodeficiency diseases, 2:1040

Primary liver cancer, 1:677 Prion diseases, 2:949–952 Prion protein, 2:949–952 PRNP gene, 2:950–952

Proband, Alagille syndrome, 1:42 Problem drinkers, 1:48

Progeria syndrome, 2:952–954 , 954, 2:1193

Programmed cell death, 2:834 Progressive diaphyseal dysplasia,

1:389–391

Propionic acidemia, 2:844–845,

2:955–957

Propionyl CoA carboxylase deficiency, 2:955–957

Prostate cancer, 2:957–960 BRCA 1 and 2 genes, 1:174 hereditary component, 1:189

Prostate-specific antigen (PSA), 2:959 Prostatectomy, 1:195

Protective protein/cathepsin A galactosialodosis, 2:807–811 neuraminidase deficiency,

2:803–804

Proteus syndrome, 2:961–963 Proto-oncogenes

cancer genetics, 1:190 oncogene formation, 2:833–836

Protonapia (blue color blindness), 1:257

Protoporphyrinogen oxidase, 2:942 Protrusio acetabluae, Marfan

syndrome, 2:708, 711

Prune-belly syndrome, 2:963–965 , 965 Prusiner, Stanley, 2:949

PSA (Prostate-specific antigen), 2:959 PSE (Pseudoxanthoma elasticum),

2:965–968

Pseudo-Hurler disease, 1:487–490, 2:807

Pseudodominance, 1:611

Pseudohemophilia, 2:1177

Pseudohypertrophy, 1:361 Pseudohypophosphatasia, 1:589 Pseudothalidomide syndrome, 1:70 Pseudoxanthoma elasticum (PSE),

2:965–968

Psoriasis

accutane embryopathy, 1:13 ankylosing spondylitis, 1:94, 96 hair loss, 1:505

Index

GALE ENCYCLOPEDIA OF GENETIC DISORDERS

1337

Index

Psychological problems accutane use, 1:10 alcoholism, 1:48 Alzheimer disease, 1:69 Asperger syndrome, 1:109 bipolar disorder, 1:160 celiac disease, 1:209

deletion 22q11 syndrome, 1:313 dementia, 1:65, 316

Fahr disease, 1:406 homocystinuria, 1:563 Lesch-Nyhan syndrome, 1:661–662 panic disorder, 2:881–884 Prader-Willi syndrome, 2:947–948 schizophrenia, 2:1023–1027 Schwartz-Jampel syndrome, 2:1030 Smith-Fineman-Myers syndrome,

2:1064–1065 Smith-Magenis syndrome,

2:1070–1071

Tourette syndrome, 2:1136–1139 Wilson disease, 2:1200

XYY syndrome, 2:1222–1223

Psychosocial treatment

alcoholism management, 1:53–54 bipolar disorder type II, 1:162 hair loss therapy, 1:508

pervasive developmental disorders, 2:909

Proteus syndrome, 2:963 sickle cell disease, 2:1055 See also Psychotherapy

Psychostimulants, Asperger syndrome, 1:111

Psychotherapy

Asperger syndrome, 1:111 schizophrenia, 2:1027 Tourette syndrome, 2:1139

PTEN gene, 1:174

Ptosis, Cornelia de Lange syndrome, 1:280

Puberty, precocious, 2:1016

Pudlak, P., 1:550

Pulmonary artery banding, congenital heart defects, 1:269

Pulmonary atresia, 1:112

Pulmonary valve stenosis

Cornelia de Lange syndrome, 1:280 Noonan syndrome, 2:819

PWS. See Prader-Willi syndrome

Pygopagus, conjoined twins, 1:273

Pyle, Edwin, 2:733

Pyle’s disease, 2:733–735

Pyloric stenosis, 2:968–970 , 969 Cornelia de Lange syndrome, 1:279 multifactorial inheritance, 2:761 Smith-Lemli-Opitz syndrome,

2:1068

Pyridostigmine, myasthenia gravis, 2:778

Pyridoxine therapy homocystinuria, 1:564

sideroblastic X-linked anemia, 1:88

Pyrin protein, familial Mediterranean fever, 1:415

Pyruvate carboxylase deficiency (PCD), 2:970–972

Pyruvate dehydrogenase complex deficiency, 2:970, 2:972–975

Pyruvate kinase deficiency (PKD),

2:975–977, 2: 1143

I Q

11q deletion syndrome, 1:615–618

12q24 locus, cardiofaciocutaneous syndrome, 1:199

QRS complex, long-QT syndrome, 1:685–686

Quinacrine, alkaptonuria -related ochronosis, 1:59

I R

Rab Escort protein-1 (REP-1), choroideremia, 1:231

Rabson-Mendenhall syndrome insulin gene mutations, 1:345 non-insulin dependent diabetes

mellitus, 1:332–333 Radial keratotomy, 2:783

Radiation therapy acromegaly, 1:31

cancer management, 1:195–196 liver cancer, 1:680

ovarian cancer, 2:868 pancreatic cancer, 2:880 prostate cancer, 2:960 stomach cancer, 2:1102

Raloxifen, osteoporosis, 2:862–863 Rapid eye movement sleep, 2:791–793 Rapp-Hodgkin syndrome, 1:373–374 RAS oncogenes, 2:834

Rathbun, J. C., 1:587

Raynaud disease, 2:979–982 , 980–981, 2:1032, 1034

Recessively inherited multiple epiphyseal dysplasia, 1:337

Recombinant DNA technology, Donohue syndrome, 1:347

Recombinant human insulin-like growth factor 1, Donohue syndrome, 1:347

Recombination, 1:459 RecQL4 gene, 2:1010

Recurrence risk, multifactorial inheritance, 2:761

Refractive eye surgery, 2:783–784 Refsum, Sigvald, 2:982

Refsum disease, 2:982–985

infantile refsum disease, 1:603–606 vs. Niemann-Pick disease, 2:816

Reis-Buckler’s dystrophy, 1:275–277 REM sleep, 2:791–793

Renal cell carcinoma, 2:1175–1177

Renal failure

Bardet-Biedl syndrome, 1:139 cystinuria, 1:305

familial Mediterranean fever, 1:416 hemolytic-uremic syndrome,

1:521–523

hereditary spherocytosis, 2:1077 hypertension, 2:985–987 muscle CPT deficiency, 1:203 polycystic kidney disease,

2:933–934

prune-belly syndrome, 2:964–965 Renpenning, Hans, 2:987

Renpenning syndrome, 2:987–989, 2:1106

Reproductive function

cancer demographics, 1:191 cystic fibrosis, 1:298

Kartagener syndrome, 1:630–632 Klinefelter syndrome, 1:637–638 polycystic ovary syndrome,

2:935–938

Research Units in Pediatric Psychopharmacology, 2:909

Residual schizophrenia, 2:1024

Respiratory care, muscular dystrophy, 2:775

Respiratory insufficiency, thanatophoric dysplasia, 2:1131

Respiratory tract

cystic fibrosis, 1:296–300 Patau syndrome, 2:892 scleroderma, 2:1033–1034

Responsive dementia, 1:320

Restriction enzymes, Human Genome Project, 1:566

Restriction fragment length polymorphisms

genetic mapping, 1:457 Human Genome Project, 1:566

RET gene

cancer susceptibility testing, 1:478 Hirschsprung’s disease, 1:554–556 multiple endocrine neoplasia-2,

2:765–766 oncogenesis, 2:836

Retina, albinism, 1:44

Retinal angiomas, 2:1172–1173 Retinal coloboma, 1:255 Retinal detachment, 2:710

1338

GALE ENCYCLOPEDIA OF GENETIC DISORDERS