
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
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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
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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
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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
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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 |