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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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Congenital adrenal hyperplasia (CAH),

1:261–265

Congenital agammaglobulinemia,

1:178–181

Congenital anemia-triphalangeal thumb syndrome, 1:3–5

Congenital contractural arachnodactyly, 1:141–143

Congenital erythropoietic porphyria (CEP), 2:940–941, 943–944

Congenital heart defects, 1:266–269 ,

268

accutane embryopathy, 1:12 acrocallosal syndrome, 1:27 Adams-Oliver syndrome, 1:33–34 Alagille syndrome, 1:42 alkaptonuria, 1:58

arthrogryposis multiplex congenita, 1:106

asplenia, 1:113–114 cardiofaciocutaneous syndrome,

1:200

CHARGE syndrome, 1:222, 224 Cornelia de Lange syndrome,

1:279–281

Costello syndrome, 1:283–285 cri du chat syndrome, 1:290–291 deletion 22q11 syndrome, 1:313 Down syndrome, 1:349, 352 Ellis-van Creveld syndrome,

1:380–382

fetal alcohol syndrome, 1:423–425 frontonasal dysplasia, 1:441–442 Holt-Oram syndrome, 1:560–561 Noonan syndrome, 2:818–821 Patau syndrome, 2:892–893 Smith-Lemli-Opitz syndrome,

2:1066–1068

TAR syndrome, 2:1113–1114 trisomy 18, 2:1147

Turner syndrome, 2:1155 VATER association, 2:1169–1172 Williams syndrome, 2:1196–1197

Wolf-Hirschhorn syndrome, 2:1207

Congenital hereditary endothelial dystrophy, 1:275–277

Congenital hypertrophy of the retinal pigment epithelium, 1:409–410

Congenital hypoplastic anemia, 1:3–4

Congenital hypothyroid syndrome,

1:270–272 , 271–272

Congenital keratosis palmoplantaris,

1:501–503

Congenital muscular dystrophy classification, 2:770 genetic profile, 2:772

signs and symptoms, 2:774 Walker-Warburg syndrome,

2:1187–1188

Congenital myotonic dystrophy, 2:786

Congenital spondyloepiphyseal dysplasia, 2:1088–1091

Congenital stationary night blindness, 2:1000

Conjoined twins, 1:272–274 , 274

Connective tissue diseases Beals syndrome, 1:142–143 Ehlers-Danlos syndrome,

1:376–380

Menkes syndrome, 2:730

Consanguinity abetalipoproteinemia, 1:6 acrocallosal syndrome, 1:27 amelia, 1:71

genetic counseling, 1:471 methylmalonic acidemia,

2:736–737

Contact lenses, for myopia, 2:783

Contagious diseases. See Infectious diseases

Contiguous gene deletion Smith-Magenis syndrome,

2:1069–1071

Williams syndrome, 2:1196 Wolf-Hirschhorn syndrome,

2:1205–1206

Continuous traits, multifactorial inheritance, 2:760–761

Cooley, Thomas, 1:86, 149

Cooley’s anemia. See Beta thalassemia

Copper metabolism

Menkes syndrome, 2:731–732 Wilson disease, 2:1198–1201

Coproporphyrinogen oxidase, 2:942

Cord blood cells, sickle cell disease, 2:1055

CORD2 gene, 1:260

Corneal dystrophy, 1:275–277 , 277

Cornelia de Lange syndrome, 1:252,

1:278–282

Coronal craniosynostosis, 1:288

Corpus callosum

acrocallosal syndrome, 1:27–28 Aicardi syndrome, 1:39–41 X-linked hydrocephaly,

2:1217–1218

Corticosteroids

asthma management, 1:122 Duchenne muscular dystrophy,

1:363

hair loss treatment, 1:508 muscular dystrophy, 2:774–775 osteoarthritis, 2:855–856

Cortisol, congenital adrenal hyperplasia, 1:261–262, 265

Costello, J., 1:284

Costello syndrome, 1:148, 1:283–285

Counseling, genetic. See Genetic counseling

Cowden syndrome

breast cancer genetics, 1:174 stomach cancer, 2:1099

CPT (Carnitine palmitoyltransferase deficiency), 1:201–204

CPT1/CPT2 genes, 1:202 CPT-I deficiency, 1:201–204 CPT-II deficiency, 1:201–204

Crane-Heise syndrome, 1:285–286

Cranial nerve defects

CHARGE syndrome, 1:224–225 Duane retraction syndrome,

1:354–357, 1:356

Möebius syndrome, 2:747–748

Cranio-carpotarsal dystrophy,

1:437–438, 2: 1030 Craniopagus, 1:273

Craniosynostosis, 1:286–289 arthrogryposis multiplex congenita,

1:105–106 Beare-Stevenson cutis gyrata

syndrome, 1:144–145 Carpenter syndrome, 1:205–206 Crouzon syndrome, 1:292–294 fibroblast growth factor receptor

mutations, 1:428–430 Greig cephalopolysyndactyly

syndrome, 1:498 Jackson-Weiss syndrome, 1:614 Jacobsen syndrome, 1:617–618 Pfeiffer syndrome, 2:914–917 Saethre-Chotzen syndrome,

2:1019–1021 Shprintzen-Goldberg

craniosynostosis syndrome, 2:1046–1048

thanatophoric dysplasia, 2:1130 CRD (Cone-rod dystrophy), 1:260–261

Creatine clearance test, polycystic kidney disease, 2:933–934

Creatine kinase (CK)

acid maltase deficiency, 1:25 Duchenne muscular dystrophy,

1:362 Emery-Dreifuss muscular

dystrophy, 1:386 FSH muscular dystrophy,

1:445–446

muscular dystrophy, 2:774 Creb-binding protein gene, 2:1012 CREST syndrome, 2:1034

Creutzfeld-Jakob disease, 2:949–952 dementia, 1:317, 319 hemophilia, 1:526

Cri du chat syndrome, 1:236,

1:289–291

Crick, Francis, 1:343–344

Crist-Siemens-Touraine syndrome, 1:369

Crouzon syndrome, 1:292–294 craniosynostosis, 1:287

Index

GALE ENCYCLOPEDIA OF GENETIC DISORDERS

1319

Index

Crouzon syndrome (cont’d) fibroblast growth factor receptor

mutations, 1:430 Jackson-Weiss syndrome,

1:613–615 Saethre-Chotzen syndrome,

2:1020–1021 CRX gene, 1:260

Cryotherapy, retinoblastoma, 2:993 Cryptophthalmos, 1:434–436

CSA gene, 1:247

CSF. See Cerebrospinal fluid

CT scan. See Computed tomography scan

CTNS gene, 1:302–303 Cushing, Harvey, 1:29

Cutis gyrata syndrome of Beare and Stevenson, 1:144–146 , 145

CVS. See Chorionic villus sampling CX32 gene, 1:220

C282Y gene, 1:520 Cyanotic defects, 1:267, 268

Cyclic AMP regulated enhancer binding protein, 2:1012

Cyclopamine, holoprosencephaly, 1:558

CYP21, 1:262

CYP2D6, 2:918

Cystathionine b-synthase, 1:562–565,

563–564

Cysteamine treatment, 1:303–304

Cystic fibrosis, 1:295–301 , 297 amniocentesis, 1:75–76 carrier testing, 1:478

gene therapy, 1:462 genetic testing, 1:475

Kartagener syndrome, 1:631–632 MCAD, 2:718–720

pedigree analysis, 2:897–898

Cystic fibrosis transmembrane conductance regulator gene, 1:466

Cystinosis, 1:301–304

Cystinuria, 1:304–307 Cytomegalovirus infections, 1:558 Cytoreductive surgery, 1:196

I D

Damus-Kaye-Stansel procedure, 1:269

Dandy-Walker malformation,

1:309–311

Fraser syndrome, 1:435 Neu-Laxova syndrome, 2:798

Dantrolene sodium, malignant hyperthermia, 2:703–704

Datrolene (Dantrium), 1:217

David-O’Callaghan VACTERL association, 2:1170

De Crecchio, Luigi, 1:261–262

De novo chromosome

deletion 22q11 syndrome, 1:312 frontonasal dysplasia, 1:441 inheritance characteristics,

1:610–611

Jacobsen syndrome, 1:615 lissencephaly, 1:674–676 microphthalmia with linear skin

defects, 2:742–743 Williams syndrome, 2:1196

Wolf-Hirschhorn syndrome, 2:1206 De Vries, Hugo, 1:458

Deafness

CHARGE syndrome, 1:225 Jervell and Lange-Nielsen syndrome, 1:618–620

Pendred syndrome, 2:902–906 See also Hereditary hearing loss

and deafness Dejerine-Sottas disease, 1:220

Deletion 22q11 syndrome, 1:311–315 CHARGE syndrome, 1:223, 225 chromosomal deletions, 1:236 congenital heart defects, 1:267–268

Deletions, chromosome structural alteration, 1:236–237

Delta F508 defect, 1:295

Dementia, 1:315–321 Alzheimer disease, 1:65 dentatorubral-pallidoluysian

atrophy, 1:321 Down syndrome, 1:350 Fahr disease, 1:406

genetic counseling, 1:470 Niemann-Pick disease, 2:815–816 Parkinson disease, 2:885–886 prion diseases, 2:951

Dentatorubral-pallidoluysian atrophy (DRPLA), 1:321–323

Deoxyribonucleic acid (DNA),

1:342–344 , 343 cancer, 1:189

chromosome number and structure, 1:232, 239

gene pool, 1:459–460 gene structure and, 1:455 gene therapy, 1:462 genetic testing, 1:475

mitochondrial (See Mitochondrial DNA)

Depression, 1:323–327 , 326 accutane use and, 1:10 alcoholism, 1:48 Alzheimer disease, 1:69 Asperger syndrome, 1:109 bipolar disorder, 1:160 CAT scan imaging, 1:326 celiac disease, 1:209

deletion 22q11 syndrome, 1:313

dementia, 1:65, 316 Fahr disease, 1:406

Klinefelter syndrome, 1:637–638 narcolepsy, 2:793 phenylketonuria, 2:919–920 Wilson disease, 2:1200

Dermatan sulfate, Hurler syndrome, 1:572

Dermatosparaxis Ehlers-Danlos syndrome, 1:379

DeSanctis-Cacchione syndrome, 2:1211

Desferoxamine, sickle cell disease, 2:1054

Desmoid tumors, 1:192, 410–411 Desmopressin acetate

nephrogenic diabetes insipidus, 2:796

von Willebrand disease, 2:1181 Deuteranopia (red/green color

blindness), 1:257

Developmental delay. See Growth and developmental delay

DHCR7 gene, 2:1066 Diabetes insipidus, 2:796 Diabetes mellitus, 1:328–336 ,

331–333 , 335 amelia, 1:71

Bloom syndrome, 1:164–165 classification, 1:328–329 color blindness, 1:257–258 cystic fibrosis, 1:296 Friedreich ataxia, 1:439 hearing loss and deafness,

1:537–538 hemochromatosis, 1:520

hyperlipoproteinemia, 1:582–583 multifactorial inheritance, 2:762 myotonic dystrophy, 2:786, 788 neural tube defects, 2:800–801 pancreatic beta cell agenesis,

2:875–877 sirenomelia, 2:1060–1061 spina bifida, 2:1079 Turner syndrome, 2:1155 Werner syndrome, 2:1194

Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition (DSM-IV)

ADHD, 1:128 alcoholism, 1:48

Asperger syndrome, 1:109–110 autism, 1:132–133

dementia, 1:315, 318 schizophrenia, 2:1023–1025 Tourette syndrome, 2:1138

Diastrophic dysplasia (DTD),

1:336–339

Diastrophic dysplasia sulfate transporter gene, 1:336–337

1320

GALE ENCYCLOPEDIA OF GENETIC DISORDERS

Diazepam (Valium), cerebral palsy, 1:217

Dicephalus, conjoined twins, 1:273 Dieker, H., 2:744

Diet and nutrition alkaptonuria, 1:60

cancer demographics, 1:190 celiac disease, 1:210

cleft lip and palate, 1:241 cystic fibrosis, 1:299 diabetes mellitus, 1:335–336 essential hypertension, 1:399

hyperlipoproteinemia, 1:583–584 methylmalonicaciduria, 2:740 muscular dystrophy, 2:775 neural tube defects, 1:389 osteoporosis, 2:862

Parkinson disease, 2:886 phenylketonuria, 2:922 prostate cancer risk, 2:957

pyruvate dehydrogenase complex deficiency, 2:975

Refsum disease, 2:984–985 Russell-Silver syndrome,

2:1015–1016 Smith-Lemli-Opitz syndrome,

2:1068

DiGeorge syndrome. See Deletion 22q11 syndrome

Digestive tract disorders asplenia, 1:113 scleroderma, 2:1032–1034

Digital rectal examination, prostate cancer, 2:959

Digoxin, 1:269 Dihydrotestosterone, 1:504 Dihydroxyacetone phosphate,

2:1142–1143 Dihydroxyacetone phosphate

acyltransferase, 2:1227 Diphtheria-pertussis-tetanus vaccine,

2:719–720

Diploid cells, 1:235–236

Direct DNA mutation analysis, 1:476 Discontinuous traits, 2:760–761 Disease association studies, 2:762 Disintegrative disorder, 2:907 Disorganized schizophrenia, 2:1023 Distal arthrogryposis syndrome,

1:340–342

arthrogryposis multiplex congenita, 1:104–105

Freeman-Sheldon syndrome, 1:437–438

Distal muscular dystrophy classification, 2:770 genetic profile, 2:772 signs and symptoms, 2:774

Disulfiram, 1:49, 53

Diuretics, congenital heart defects, 1:269

Dizygotic twins, acardia and, 1:8 DM. See Myotonic dystrophy DMD. See Duchenne muscular

dystrophy

DNA. See Deoxyribonucleic acid DNA methylation studies

Angelman syndrome, 1:92–93 Prader-Willi syndrome, 2:948

DNA microinjection technique, 1:465 DNA repair genes, 1:190

DNA sequencing, 1:471 DNA testing

achondrogenesis, 1:16 Canavan disease, 1:186–188 congenital adrenal hyperplasia,

1:264

Crouzon syndrome, 1:293 diastrophic dysplasia, 1:339

direct DNA mutation analysis, 1:476 Donohue syndrome, 1:347

factor V Leiden thrombophilia, 1:405

homocystinuria, 1:564 hypochondroplasia, 1:586–587 indirect DNA testing, 1:476 Jackson-Weiss syndrome,

1:614–615

Pendred syndrome, 2:905 Dnase, cystic fibrosis, 1:300 Dolichocephalic, 1:164 Dominant inheritance, 1:192

Dominant progressive hearing loss, 1:537–538

Donohue syndrome, 1:332–333,

1:345–347

Dopamine

acromegaly and, 1:30 alcoholism and, 1:50

Dopamine agonists Parkinson disease, 2:887 schizophrenia, 2:1027

Down mosaics, 1:232

Down syndrome, 1:348–353 , 350–352 Alzheimer disease, 1:66, 316 amniocentesis, 1:74–75

celiac disease, 1:209 chromosomal abnormalities, 1:232 chromosome structure and number,

1:240

genetic counseling, 1:469 Hirschsprung’s disease, 1:554–556 hydrops fetalis, 1:580–581 karyotype, 1:634

maternal age and, 1:238 XX male syndrome, 2:1220

DRD4-7, ADHD, 1:128

Driving while impaired (DWI), 1:51 DRPLA (Dentatorubral-pallidoluysian

atrophy), 1:321–323 DRPLA gene, dentatorubral-

pallidoluysian atrophy, 1:322–323

DRS (Duane retraction syndrome),

1:353–357 , 356

DRS1 gene, Duane retraction syndrome, 1:354–355

Drug abuse, teratogens, 2:1117

DTD (Diastrophic dysplasia),

1:336–339

Duane, A., 1:353

Duane retraction syndrome (DRS),

1:353–357 , 356

Dubowitz, Victor, 1:357 Dubowitz syndrome, 1:357–359

Duchenne muscular dystrophy (DMD),

1:359–364 classification, 2:769

genetic profile, 1:359–360, 2:770–771

preventive measures, 1:363 scoliosis, 2:1037

signs and symptoms, 1:360–362, 2:772–773

Duodenal atresia, Down syndrome, 1:349, 352

Duplication, chromosome structural alteration, 1:236

Dural ectasia, Marfan syndrome, 2:708, 711

Dwarfism achondrogenesis, 1:14

achondroplasia, 1:17–21, 1:19–20 campomelic dysplasia, 1:183 fibroblast growth factor receptor

mutations, 1:429, 1:429 hypochondroplasia, 1:584–587 Leri-Weill dyschonodrosteosis,

1:658–659 pituitary, 2:926–929

Robinow syndrome, 2:1007–1009 Seckel syndrome, 2:1039–1040 short-rib polydactyly syndromes,

2:1044–1046 thanatophoric dysplasia,

2:1130–1133 Weissenbacher-Zweymuller

syndrome, 2:1190–1192 See also Achondroplasia

DWI (Driving while impaired), 1:51 Dyskenia, 1:216

Dysplasia, 1:364–369 , 365

anterior encephalocele, 1:387–388 cleidocranial, 1:243–245, 1:244 generalized, 1:365–366

Goltz syndrome, 1:494 localized, 1:365

See also Achondroplasia

Dysplasia olfactogenitalis of DeMorsier, 1:627–629

Dysplasia sulfate transporter gene, 1:15 Dysthymia, 1:324

Dystonia, 1:369–371, 1: 490

Index

GALE ENCYCLOPEDIA OF GENETIC DISORDERS

1321

Index

Dystopia canthorum, 2:1183–1187

Dystrophic epidermolysis bullosa, 1:391–393

Dystrophin

Duchenne muscular dystrophy, 1:361, 363

muscular dystrophy genetics, 2:771 DYT-1 gene, 1:370

I E

E2 and E2 genes, 1:655–656

E-cadherin/CDH1 gene gastric cancer, 1:193

stomach cancer, 2:1101–1102

Eagle-Barrett syndrome, 2:963–965 ,

965

Early amniocentesis, 1:77–78 Early-onset Alzheimer disease, 1:316

Early-onset idiopathic torsion dystonia, 1:370

EB (Epidermolysis bullosa), 1:391–393 Ebstein’s anomaly, 1:267

ECG. See Echocardiography ECG/EKG. See Electrocardiogram

Echocardiography (ECG)

congenital heart defects, 1:268–269 Marfan syndrome, 2:710

ECT (Electroconvulsive therapy), 1:327

Ectodermal dysplasia, 1:373–376 classification, 1:368–369 Rieger syndrome, 2:1003

Ectopia lentis, 2:708

Ectrodactyly-ectodermal dysplasiaclefting syndrome, 1:373–376

EDA gene, 1:373–375

EDMD. See Emery-Dreifuss muscular dystrophy

EDN3 gene, 2:1184 EDNRB gene, 2:1184

Edrophonium, myasthenia gravis, 2:778

EDS (Ehlers-Danlos syndrome),

1:376–380 , 379

Educational attainment, alcoholism and, 1:50

Edwards syndrome, 2:1144–1149 See also Trisomy 18

Ehlers-Danlos syndrome (EDS),

1:376–380

Elastase, alpha-1 antitrypsin, 1:61

Elastin arteriopathy, Williams syndrome, 2:1197

Electrocardiogram (ECK/EKG) alkaptonuria, 1:59

Fahr disease, 1:407

Jervell and Lange-Nielsen syndrome, 1:619

long-QT syndrome, 1:685–686 muscular dystrophy, 2:774

Electroconvulsive therapy (ECT), 1:327

Electrodiagnostic tests, amyotrophic lateral sclerosis, 1:82

Electroencephalograph, epilepsy, 1:395

Electromyogram

Duchenne muscular dystrophy, 1:362–363

FSH muscular dystrophy, 1:445–446

muscular dystrophy diagnosis, 2:774

Schwartz-Jampel syndrome, 2:1030 spinal muscular atrophy,

2:1082–1083

Electroretinography, Leber congenital amaurosis, 1:651–652

Ellis-van Creveld syndrome,

1:380–383, 2: 1044 ELN gene, 2:1196 EMD gene, 1:384

Emerin, Emery-Dreifuss muscular dystrophy, 1:384

Emery-Dreifuss muscular dystrophy,

1:383–387 classification, 2:769 genetic profile, 2:772

signs and symptoms, 2:773 EMG. See Electromyogram

Emphysema, alpha-1 antitrypsin, 1:61–63

Encephalocele, 1:387–389 , 388 characteristics, 2:800–801, 2:801 frontonasal dysplasia, 1:442 management, 2:802 Meckel-Gruber syndrome, 2:727

Encephaloduroanteriosynangiosis, 2:750

Encephalomyosynangiosis, 2:750 End stage renal disease, 2:985–987

Endocarditis

bicuspid aortic valve, 1:154–156 Marfan syndrome, 2:708

Endocrine system

deletion 22q11 syndrome, 1:313 McCune-Albright syndrome,

2:721–722 Endoglin gene, 2:851–852

Endoscopic retrograde cholangiopancreatography

defined, 1:193

pancreatic cancer, 2:879–880

Endoscopic ultrasound, stomach cancer, 2:1102

Endoscopy

stomach cancer, 2:1102

wireless, 1:533

Endothelial dystrophies, 1:276–277 Endothelin-3 gene, 1:554 Endothelin-B receptor gene, 1:554 Endothelin converting enzyme, 1:554 ENG gene, 2:851–852

Engelmann disease, 1:389–391

Enlarged vestibular aqueduct, 2:903–904

Enthesitis, ankylosing spondylitis, 1:94

Enthesopathy, ankylosing spondylitis, 1:94, 96

Enucleation, 2:993

Environmental factors

cancer demographics, 1:191 cleft lip and palate, 1:241

fetal alcohol syndrome, 1:423–425 hereditary colorectal cancer,

1:531–533

liver cancer risk, 1:678 Enzyme inhibitors, 2:886–887

Enzyme replacement therapy acid maltase deficiency, 1:26 Fabry disease, 1:403 Gaucher disease, 1:454 Hurler syndrome, 1:574–575

Enzymes, acid maltase deficiency, 1:25 Ependymoma, 1:193

Epidermoid cyst, 1:193

Epidermolysis bullosa (EB), 1:391–393 Epididymus, 2:1175–1177

Epilepsy, 1:394–396 acardia with, 1:8–9 celiac disease, 1:209

dentatorubral-pallidoluysian atrophy, 1:321

Epispadias, 1:593–595

Epithelial basement membrane dystrophy, 1:275–277

Epstein syndrome, 2:1037 ERCC8 gene, 1:247

Erythema nodosum leprosum, 2:1127–1128

Erythrocytapheresis, 2:1054 Erythromycin, 2:968

Erythropoietic protoporphyria, 2:941–944

Esophageal reflux, 2:1032–1034 Esophageal stenosis, 1:279 Esotropia, 2:992–993

Essential hypertension, 1:397–399 Estrogen, osteoporosis, 2:862–863 Ethanol, alcoholism, 1:49

Ethics

gene therapy, 1:467–468 genetics counseling, 1:472 genetics testing, 1:481

Human Genome Project, 1:566–567

1322

GALE ENCYCLOPEDIA OF GENETIC DISORDERS

multifactorial inheritance testing, 2:762–763

Ethnicity

alcoholism genetics, 1:49–50 genetic counseling, 1:471 hyperlipoproteinemia risk, 1:583

Etretinate, harlequin fetus, 1:515 Eugenics, 1:468

Exercise

asthma and, 1:121

cancer demographics, 1:190 diabetes mellitus, 1:335 essential hypertension, 1:399 hyperlipoproteinemia, 1:583–584 osteoporosis, 2:862

Parkinson disease, 2:886

Exomphalos macroglossia gigantism syndrome. See Beckwith-Wiedemann syndrome

Exon, acid maltase deficiency, 1:25

Exostoses

hereditary multiple, 1:540–542 Langer-Gideion syndrome,

1:645–646 Exotropia, 2:992–993

EXT1 gene chondrosarcoma, 1:228

hereditary multiple exostoses, 1:540–541

EXT2 gene, 1:540–541 EXT3 gene, 1:540–541

External beam radiation, retinoblastoma, 2:994

Extraocular muscle fibrosis syndrome, 1:354

EYA 1 gene, 1:171

Eye retraction syndrome, 1:353–357 ,

356

Eyeglasses, for myopia, 2:782

I F

F5 gene, 1:404

FA. See Friedreich ataxia FA-A gene, 1:418

FA-C gene, 1:418

FA (Fanconi anemia), 1:417–420, 2:794

Fabry, Johann, 1:401 Fabry disease, 1:401–403

Facial nerve paralysis branchiootorenal syndrome,

1:171–172

Möebius syndrome, 2:747–748

Facioscapulohumeral muscular dystrophy (FSH), 1:444–446

classification, 2:769

genetic profile, 2:772 signs and symptoms, 2:773

Factor H gene, 1:521–523

Factor V Leiden thrombophilia,

1:403–405, 1: 562 Factor VIII, 1:523–527 Factor IX, 1:524 Factor XI, 1:524

Fahr disease, 1:406–407 FALDH gene, 2:1062

Familial adenomatous polyposis (FAP),

1:408–411 defined, 1:193

hereditary colorectal cancer, 1:530–533

hereditary desmoid disease, 1:534–535

stomach cancer, 2:1098–1099

Familial alobar holoprosencephaly. See Holoprosencephaly

Familial atypical multiple mole melanoma syndrome, 1:192

Familial British dementia, 1:316

Familial dysautonomia (FD),

1:412–413

Familial gastric cancer, 1:193 Familial Hibernian fever, 1:416 Familial hypercholesterolemia, 1:466

Familial Mediterranean fever (FMF),

1:414–417

Familial medullary thyroid carcinoma, 2:763, 765–766

Familial pancreatic cancer, 2:878

Familial polyposis coli. See Familial adenomatous polyposis

Family therapy, schizophrenia, 2:1027

FAMMM (Familial atypical multiple mole melanoma syndrome), 1:192

Fanconi, Guido, 1:417, 420 Fanconi anemia, 1:417–420, 2: 794

Fanconi-Bickel syndrome (FBS),

1:420–422

FAP. See Familial adenomatous polyposis

FAS. See Fetal alcohol syndrome

Fasciculations, amyotrophic lateral sclerosis, 1:79, 81

Fatal familial insomnia, 2:949–952 Fatty acids, 1:201, 202, 2:843–846

Fatty aldehyde dehydrogenase 10, 2:1062–1063

FBN1 gene

Carpenter syndrome, 1:205 craniosynostosis, 1:287 Marfan syndrome, 1:268, 2:707 Shprintzen-Goldberg

craniosynostosis syndrome, 2:1046–1048

FBN2 gene, 1:142

FBS (Fanconi-Bickel syndrome),

1:420–422

FD (Familial dysautonomia),

1:412–413

Fecal occult blood test Bloom syndrome, 1:163 defined, 1:193

hereditary colorectal cancer, 1:533 Fechtner syndrome, 2:1037 Feingold, Murray, 2:825

Female pattern hair loss, 1:504, 506 Ferrochelatase, 2:942

Fertility, cystic fibrosis, 1:298

Fetal akinesia/hypokinesia sequence,

1:104–108, 1: 340

Fetal alcohol syndrome (FAS),

1:422–425

Klippel-Feil sequence, 1:639–641 teratogenicity, 2:1117

Fetal echocardiography, 1:9 Fetoscopy, 1:514

Fetus in fetu, 1:273

FG syndrome, 1:425–427 FGD1 gene, 1:1

FGFR. See Fibroblast growth factor receptor

Fibrillin. See FBN1 gene

Fibrillin-2 protein

Beals syndrome, 1:142 scoliosis, 2:1035

Fibrin, hemophilia, 1:524–526

Fibrinolytic inhibitors, von Willebrand disease, 2:1181

Fibroblast, acid maltase deficiency,

1:25

Fibroblast growth factor receptor 1 gene

fibroblast growth factor receptor mutations, 1:428–430

Jackson-Weiss syndrome, 1:613–615

Pfeiffer syndrome, 2:914–917

Fibroblast growth factor receptor 2 gene

Apert syndrome, 1:97 Beare-Stevenson cutis gyrata

syndrome, 1:144 Crouzon syndrome, 1:292

fibroblast growth factor receptor mutations, 1:428–430

Jackson-Weiss syndrome, 1:613–615

Pfeiffer syndrome, 2:914–917

Fibroblast growth factor receptor 3 gene

achondroplasia, 1:17–18 Crouzon syndrome, 1:292–293 dysplasia, 1:367

Index

GALE ENCYCLOPEDIA OF GENETIC DISORDERS

1323

Index

Fibroblast growth factor receptor 3 gene (cont’d)

fibroblast growth factor receptor mutations, 1:428–430

hypochondroplasia, 1:585–587 thanatophoric dysplasia, 2:1131

Fibroblast growth factor receptor mutations, 1:427–430

Carpenter syndrome, 1:205 craniosynostosis, 1:287, 289 Saethre-Chotzen syndrome,

2:1020–1021

Fibroids, amniocentesis, 1:75

Fibrosis, 1:46

Finasteride, 1:508

Fine needle aspiration (FNA), 1:193, 2:879

Fingernail abnormalities, 2:789–791

FISH. See Fluorescent in situ hybridization

Floppy baby syndrome

acid maltase deficiency, 1:24 central core disease, 1:212 Cohen syndrome, 1:254 GM1-gangliosidosis, 1:489 Larsen syndrome, 1:648

Fluorescent in situ hybridization (FISH)

Alagille syndrome diagnosis, 1:43 amniocentesis, 1:76

Angelman syndrome, 1:93 Jacobsen syndrome, 1:617 lissencephaly, 1:676 Miller-Dieker syndrome, 2:746 Opitz syndrome, 2:840 Smith-Magenis syndrome, 2:1070 Williams syndrome, 2:1197

Wolf-Hirschhorn syndrome, 2:1207

FMF (Familial Mediterranean fever),

1:414–417

FMR-1 gene, 1:430–431

FNA (Fine needle aspiration), 1:193, 879

Focal dermal hypoplasia. See Goltz syndrome

Focal dystonia, 1:370

Focal seizures, 1:40

Folic acid

anencephaly risk reduction, 1:90 homocystinuria, 1:564–565 Nijmegen breakage syndrome,

2:818

spina bifida prevention, 2:1081

Follicle stimulating hormone (FSH) Kallman syndrome, 1:628–629 Klinefelter syndrome, 1:637–638

Follicular keratosis, 2:821

Folstein Mini-Mental Status

Examination, 1:320

Fong disease, 2:789–791 , 791

Fontan procedure, 1:269

Fontanelle, 1:4

Foot anomalies, 2:708

Foot drop, 1:221

Forensics, 2:699

Foundation for Ichthyosis and Related Skin Types (FIRST), 1:513–514

Founder effect, 1:306, 367–368

Fragile X syndrome, 1:430–433 autism, 1:131

chromosomal abnormalities, 1:237 genetic counseling, 1:470

Francois dyscephaly syndrome,

1:509–511

Franklin, Rosalind Elsie, 1:344

Fraser, C. R., 1:434

Fraser syndrome, 1:434–436

Frataxin protein, 1:439–440

FRAXA syndrome. See Fragile X syndrome

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

Fredrickson, Donald, 2:1109

Freeman-Sheldon syndrome (FSS),

1:437–438, 2: 1030

French PCD, 2:970–972

Friedreich ataxia, 1:438–440 abetalipoproteinemia, 1:6 ataxia-telangiectasia and, 1:126

Friedreich ataxia with retained reflexes, 1:439

Frontal lobe dementia, 1:316, 318–319

Frontometaphyseal dysplasia, 2:863–865

Frontonasal dysplasia, 1:441–442

Fryns, J. P., 1:443

Fryns syndrome, 1:443–444

FSH (Facioscapulohumeral muscular dystrophy), 1:444–446

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

FSH (Follicle stimulating hormone) Kallman syndrome, 1:628–629 Klinefelter syndrome, 1:637–638

FSS (Freeman-Sheldon syndrome),

1:437–438, 1: 1030

Fuch’s endothelial dystrophy, 1:275–277

Fukuyama-type congenital muscular dystrophy, 2:1188

Full blood cell count, alcoholism diagnosis, 1:52

Full trisomy 18, 2:1145–1146 Fungal infections, hair loss, 1:505

I G

G syndrome, 2:837–840 , 840

G3460A, Lebers hereditary optic atrophy, 1:654–655

G985A gene, 2:717, 719 G11778A gene, 1:653–655 GAA sequence, 1:439–440

Gabapentin, bipolar disorder type II, 1:162

Galactokinase deficiency, 1:447–449, 1:451

Galactosamine-6-sulfatase, Morquio syndrome type A, 2:756

Galactose-1-phosphate uridyl transferase (GALT)

galactokinase deficiency, 1:447 galactosemia, 1:451

Galactose intolerance, 1:421–422 Galactosemia, 1:447–449, 1:450–452 Galactosialodosis, 2:807–811

Galactosylceramidase, Krabbe disease, 1:641–643

GALC gene, 1:641–643

GALK deficiency, 1:447–449, 1: 451 GALK1 gene, 1:447–448 Gallbladder, asplenia, 1:114

Gallstones

cystic fibrosis, 1:296 hereditary spherocytosis,

2:1076–1077

sickle cell disease, 2:1051–1052

GALNS. See N-Acetylgalactosamine- 6-sulfate sulfatase

GALT (Galactose-1-phosphate uridyl transferase), 1:447, 451

Gamma-glutamyltransferase, alcoholism diagnosis, 1:52

Gangliosides, Tay-Sachs disease, 2:1115–1116

Gardner syndrome, 1:408, 410 Garrod, Archibald (Sir), 1:55 Gascoyen, G. G., 1:166

Gastric cancer. See Stomach cancer Gastric ulcers, 1:279

Gastritis, atrophic, 1:192

Gastroesophageal reflux disease, Cornelia de Lange syndrome, 1:281

Gastrointestinal tract

blue rubber bleb nevus syndrome, 1:166–167

Cornelia de Lange syndrome and abnormalities in, 1:279

cystic fibrosis, 1:296 Down syndrome, 1:349

familial adenomatous polyposis, 1:409

1324

GALE ENCYCLOPEDIA OF GENETIC DISORDERS

Fraser syndrome, 1:435 Osler-Weber-Rendu syndrome and

bleeding in, 2:853 Peutz-Jeghers syndrome, 2:910–913 pyloric stenosis, 2:968–969

Gaucher, Philippe, 1:453

Gaucher disease, 1:453–454 gene therapy, 1:466 hydrops fetalis, 1:580

GCPS (Grieg cephalopolysyndactyly syndrome), 1:27, 1:496–498

Gehrig, Lou, 1:80

Gelastic epilepsy, Pallister-Hall syndrome, 2:873–874

Gender variables, alcoholism genetics, 1:49–51

Gene flow, gene mutation, 1:459 Gene mutations, 1:458–459, 1: 476

Gene pool, 1:459–462 amelia, 1:72

gene mutations, 1:458–459 gene therapy, 1:468

Gene therapy, 1:462–468 adrenoleukodystrophy, 1:38 Alzheimer disease, 1:69 asthma, 1:123

biological basis of, 1:462–463 Canavan disease, 1:188 cystic fibrosis, 1:301

diabetes mellitus, 1:336 ethics of, 1:467–468 future research, 1:467 history, 1:464–466

Hurler syndrome, 1:574–575 liver cancer, 1:680

muscular dystrophy, 2:776 porphyrias, 2:943–944

severe combined immunodeficiency, 2:1043

targeted diseases, 1:466 viral vectors, 1:464

Genes, 1:455–456, 1: 475, 482–483 See also names of specific genes

Genetic anticipation defined, 1:135

fragile X syndrome, 1:431 spinocerebellar ataxia, 2:1084–1085

Genetic counseling, 1:468–472 abetalipoproteinemia, 1:7 achondrogenesis, 1:16 Adams-Oliver syndrome, 1:34 adrenoleukodystrophy, 1:38 Alzheimer disease, 1:69 amelia, 1:72

Azorean disease, 1:137 Bardet-Biedl syndrome, 1:139 bicuspid aortic valve, 1:154 breast cancer, 1:176

Bruton agammaglobulinemia, 1:181 campomelic dysplasia, 1:185 carnitine palmitoyltransferase

deficiency, 1:204

Charcot-Marie-Tooth disease, 1:221 Chediak-Higashi syndrome, 1:226 choroideremia, 1:231 craniosynostosis, 1:289 Dandy-Walker malformation,

1:310–311

Donohue syndrome, 1:347 Ellis-van Creveld syndrome, 1:383 Fraser syndrome, 1:436

Gaucher disease, 1:454 genetic disorders, 1:473 genetic testing, 1:474 Huntington disease, 1:570 Hurler syndrome, 1:574 hydrolethalus syndrome, 1:579 infantile refsum disease, 1:605

Jackson-Weiss syndrome, 1:615 Leber congenital amaurosis,

1:651–652

Leigh syndrome, 1:657 Marfan syndrome, 2:712 muscular dystrophy, 2:776 nail-patella syndrome, 2:791 neurofibromatosis, 2:813 retinitis pigmentosa, 2:991 Rieger syndrome, 2:1002 sickle cell disease, 2:1052

Sjögren-Larsson syndrome, 2:1063 spondyloepiphyseal dysplasia,

2:1090–1091 thalassemia, 2:1122–1123

Genetic disorders, 1:472–474 amniocentesis, 1:74 coloboma with, 1:256 cystinuria, 1:305

fibroblast growth factor receptor mutations, 1:427–430

gene pool, 1:460–461 gene therapy, 1:462–463 genetic counseling, 1:468 genetic testing, 1:474

heterozygote advantage, 1:296 See also terms beginning with the

word Hereditary Genetic drift, 1:459

Genetic heterogeneity, Adams-Oliver syndrome, 1:34

Genetic mapping, 1:456–458, 2: 781 Genetic testing, 1:474–481

acromegaly, 1:31 adrenoleukodystrophy diagnosis,

1:37

Aicardi syndrome, 1:40 amelia, 1:72 amniocentesis, 1:76

androgen insensitivity syndrome, 1:85–86

Apert syndrome, 1:98 applications, 1:477–480 Beare-Stevenson cutis gyrata

syndrome, 1:145

breast cancer diagnosis, 1:175–176 Bruton agammaglobulinemia, 1:179 campomelic dysplasia, 1:184

Canavan disease, 1:186–188 cancer screening, 1:195 carnitine palmitoyltransferase

deficiency, 1:202–203 Charcot-Marie-Tooth disease, 1:221 congenital heart defects, 1:268 craniosynostosis, 1:289

Crouzon syndrome, 1:293 cystic fibrosis, 1:299 dentatorubral-pallidoluysian

atrophy, 1:323

diabetes mellitus, 1:334–335 Down syndrome, 1:350–352 Duchenne muscular dystrophy,

1:362–363 Emery-Dreifuss muscular

dystrophy, 1:386

familial adenomatous polyposis, 1:410

familial Mediterranean fever, 1:416 fragile X syndrome, 1:433

genetic disorders, 1:473 Goltz syndrome, 1:495 Huntington disease, 1:570

Lebers hereditary optic atrophy, 1:654

Menkes syndrome, 2:731 multifactorial inheritance,

2:762–763

muscular dystrophy diagnosis, 2:774

mutation classification, 1:475–476 myotonic dystrophy, 2:787 Osler-Weber-Rendu syndrome,

2:852

ovarian cancer, 2:868 Pelizaeus-Merzbacher disease,

2:900–901

Pendred syndrome, 2:905 Peutz-Jeghers syndrome, 2:912–913 preparation, 1:480 pseudoxanthoma elasticum, 2:967 Refsum disease, 2:984

risks, 1:480–481 Simpson-Golabi-Behmel syndrome,

2:1058

Stickler syndrome, 2:1096 stomach cancer, 2:1102 test categories, 1:476–477 X-linked hydrocephaly,

2:1217–1218

xeroderma pigmentosum, 2:1213 XX male syndrome, 2:1220

See also Prenatal testing Genotype, 1:482–483

Genotype-environment association, 1:483

Germ line mosaicism

Costello syndrome, 1:283–285 FSH muscular dystrophy,

1:445–446

tuberous sclerosis complex, 2:1150

Gertsmann-Straussler-Scheinker disease, 2:949–952

Index

GALE ENCYCLOPEDIA OF GENETIC DISORDERS

1325

Index

Gestational diabetes, 1:329 Giantism, 1:473

Gilbert syndrome, 2:1077 Gilford, Hastings, 2:952

Gillberg’s criteria, Asperger syndrome, 1:109–110

Gitzelman, R., 1:448 GK2 gene, 1:447–448 GLA gene, 1:401

Glanzmann, Edward, 2:1134

Glaucoma, 1:484–487 Bardet-Biedl syndrome, 1:138 color blindness, 1:258 Friedreich ataxia, 1:440 Marfan syndrome, 2:708 Marshall syndrome, 2:713 Rieger syndrome, 2:1001–1003

GLB1 gene, 1:488

GLI-3, Greig cephalopolysyndactyly syndrome, 1:497–498

Glial cell line-derived neurotrophic factor gene, 1:554

Glioblastoma multiforme, 1:193 Glioma, 1:189

Global Initiative for Asthma, 1:119

Globoid cell leukodystrophy,

1:641–643

Globotriaosylceramide, 1:401

Globus pallidus, Parkinson disease, 2:887

Glossopexy, Pierre-Robin sequence, 2:925

Glucocerebrosidase, Gaucher disease, 1:453–454

Glucosamine, osteoarthritis, 2:856

Glucose-6-phosphate dehydrogenase (G6PD)

incontinentia pigmenti, 1:600–603 pharmacogenetics, 2:918

triose phosphate isomerase deficiency, 2:1143

Glucose tolerance, impaired, 1:328 GLUT2 gene, 1:420–421

Glutaric acidemia, 2:844 Gluten-free diet, 1:210

Glycogen, acid maltase deficiency,

1:25

Glycogen storage disease

acid maltase deficiency, 1:23–26 Fanconi-Bickel syndrome,

1:420–422

Glycoprotein IIb/IIIa complex, 2:1133–1136

Glycosaminoglycans, 2:753–757

Glycosylphosphatidylinositol, 2:888–890

D-Glyceraldehyde-3-phosphate, 1142

GM1-gangliosidosis, 1:487–490, 2: 807

GNAS-1 gene acromegaly, 1:30

McCune-Albright syndrome, 2:720

GNPTA (N-Acetylglucosamine-1- phosphatase deficiency), 2:751–753

Goeppert, F., 1:447

Goiter, 2:902–906 Goldberg, M. F., 2:807–811

Goldberg syndrome, 2:807–811 Goldenhar, Maurice, 1:491

Goldenhar syndrome, 1:491–493, 2:1141

Golgi apparatus, Lowe syndrome, 1:687–690

Goltz syndrome, 1:494–496 Aicardi syndrome, 1:39 microphthalmia with linear skin

defects, 2:743

Gonadal mosaicism, 2:1131–1132

Gonadotropin releasing hormone, 1:628–629

Goodman syndrome, 1:205 Gorlin-Goltz syndrome, 1:494 Gower sign, 1:361

GP3 gene, 2:1056

G6PD. See Glucose-6-phosphate dehydrogenase (G6PD)

Grand mal seizures, 1:394 Granular dystrophy, 1:275–277 Greig, D. M., 1:496

Greig cephalopolysyndactyly syndrome (GCPS), 1:27, 1:496–498

Gribbin, John, 1:343 Griscelli syndrome, 1:499–500

Grönblad-Strandberg-Touraine syndrome, 2:965–968

Growth and developmental delay CHARGE syndrome, 1:222, 225 Cornelia de Lange syndrome, 1:280 deletion 22q11 syndrome, 1:313 diastrophic dysplasia, 1:337–338 Donohue syndrome, 1:346–347 Down syndrome, 1:349–350 Dubowitz syndrome, 1:358–359 fragile X syndrome, 1:432–433 Hurler syndrome, 1:573–574 Joubert syndrome, 1:621–622 Neu-Laxova syndrome, 2:798 Noonan syndrome, 2:819–820 pervasive developmental disorders,

2:906–910

Renpenning syndrome, 2:987–989 Rubinstein-Taybi syndrome,

2:1013–1014

sickle cell disease, 2:1051 Sjögren-Larsson syndrome, 2:1062 See also Intrauterine growth

retardation

Growth factors

fibroblast receptor mutations (See Fibroblast growth factor receptor mutations)

insulin-like, 1:147, 347, 2:926–929 nerve, 1:69

proto-oncogenes, 2:834 recombinant human insulin-like,

1:347

transforming beta 1 gene, 1:390 Growth hormone-releasing hormone,

pituitary dwarfism, 2:926–929 Growth hormone therapy

achondroplasia, 1:21 hypochondroplasia, 1:587 pituitary dwarfism, 2:928–929

Gruber, G. B., 2:727 G307S gene, 1:563, 565 Guido-Werdig, 2:1082

Guthrie test, phenylketonuria, 2:921–922

Gypsy population

Fraser syndrome, 1:434–436 galactokinase deficiency, 1:448–449

I H

Haim-Munk syndrome, 1:501–503 Hair loss syndromes, 1:503–508 Hall, Judith G., 2:873 Hallermann-Streiff syndrome,

1:509–511

Hallucal polydactyly, 1:441–442 Ham test, paroxysmal nocturnal

hemoglobinuria, 2:889 Hamartoma, 2:910–913 Hand-foot-uterus syndrome (HFU),

1:512

HANE (Hereditary angioneurotic edema), 1:527–529

Hardy-Weinberg equilibrium, 1:461–462

Harlequin fetus (HF), 1:513–515 , 514 Hauptmann-Thannhauser muscular

dystrophy. See Emery-Dreifuss muscular dystrophy

Haw River syndrome, 1:321–323 Hay-Wells syndrome, 1:373–374 HD. See Huntington disease H63D gene, 1:520

HDD (Hereditary desmoid disease),

1:534–535

Hearing loss

conductive (See Conductive hearing loss)

Kabuki syndrome, 1:626–627 neuraminidase deficiency,

2:805–806

1326

GALE ENCYCLOPEDIA OF GENETIC DISORDERS

Pierre-Robin sequence, 2:925 sensorineural, 2:902–906,

1160–1165 Waardenburg syndrome,

2:1183–1187

See also Hereditary hearing loss and deafness

Heart defects. See Congenital heart defects

Heart disease Emery-Dreifuss muscular

dystrophy, 1:386 Fabry disease, 1:402

Hurler syndrome, 1:573–574 hydrops fetalis, 1:580

Marfan syndrome, 2:707–708, 710–711

neuraminidase deficiency, 2:805–806

pseudoxanthoma elasticum, 2:967 Simpson-Golabi-Behmel syndrome,

2:1057–1058 Tangier disease, 2:1111

tuberous sclerosis complex, 2:1151–1153

See also Congenital heart defects Heinz bodies, asplenia diagnosis, 1:114

Helicobacter pylori (H. pylori) gastric cancer, 1:193 stomach cancer, 2:1098

Heller, Theodore, 2:907 Heller’s syndrome, 2:907

Hemangioblastomas, 2:1173–1177 Hemangioma

amelia, 1:71

blue rubber bleb nevus syndrome, 1:166–167

retinal angiomas, 2:1172–1173 Hematin, porphyria therapy, 2:944 Hematologic abnormalities, 1:254 Heme

porphyrias, biosynthesis, 2:938–943 sideroblastic X-linked anemia,

1:87–89

Hemifacial microsomia, 1:491–493 Hemihyperplasia, 1:147 Hemihypertrophy, 1:515–518 , 517,

2:961–963

Hemivertebra, Alagille syndrome, 1:42 Hemochromatosis, 1:518–520

hereditary spherocytosis, 2:1077 liver cancer, 1:678–679 non-insulin dependent diabetes

mellitus, 1:332 sideroblastic X-linked anemia,

1:87–88

Hemoglobin, sideroblastic X-linked anemia, 1:87

Hemoglobin A1c test, diabetes mellitus, 1:335

Hemoglobin E, beta thalassemia, 2:1122

Hemoglobin electrophoresis, sickle cell disease, 2:1052

Hemoglobin H disease, 2:1122, 1124–1125

Hemolytic-uremic syndrome,

1:521–523

Hemophilia, 1:523–527 carrier testing, 1:477–478 genetic counseling, 1:470

pedigree analysis, 2:898–899 von Willebrand disease,

2:1177–1181

Heparan sulfate

Hurler syndrome, 1:572 MPS III deficiency, 2:755

Hepatic CPT-II deficiency, 1:203

Hepatitis defined, 1:193

hemophilia, 1:526 Hepatitis B virus, 1:678 Hepatitis C virus, 1:678 Hepatoblastomas, 1:147

Hepatocellular carcinoma alpha-1 antitrypsin, 1:62–63 genetic profile, 1:677–678

Hepatoerythopoietic porphyria, 2:941–942

Hepatomegaly, 1:151–152

Hepatosplenomegaly

Gaucher disease, 1:453–454 Niemann-Pick disease, 2:814–816 Wolman disease, 2:1210

Hereditary angioneurotic edema (HANE), 1:527–529

Hereditary arthro-ophthalmopathy,

2:1094–1097, 2: 1191

Hereditary C1 inhibitor deficiency,

1:527–529

Hereditary colorectal cancer,

1:530–533

Hereditary coproporphyria, 2:940, 942

Hereditary desmoid disease (HDD),

1:534–535

Hereditary hearing loss and deafness,

1:535–539

nonsyndromic hearing loss, 1:536–537

syndromic hearing loss, 1:536 Usher syndrome, 2:1160–1165

Hereditary hemorrhagic telangiectasia,

2:850–854 , 853

Hereditary multiple exostoses (HME),

1:540–542

Hereditary neuropathy with liability to pressure palsies, 1:219

Hereditary nonpolyposis colon cancer (HNPCC)

colorectal cancer risk, 1:531–533 defined, 1:193

Muir-Torre syndrome, 2:757–760

ovarian cancer, 2:867 pancreatic cancer, 2:877–878 stomach cancer, 2:1099, 1102

Hereditary onycho-osteodysplasia (H.O.O.D.), 2:789–791 , 791 Hereditary optic atrophy, Lebers,

1:652–655

Hereditary pancreatitis, 1:543–546 , 546, 2:877–878

Hereditary persistence of fetal hemoglobin, 2:1122

Hereditary pseudohemophilia, 2:1177 Hereditary resistance to activated

protein C, 1:403–405, 1: 562 Hereditary sensory and autonomic

neuropathies, 1:412

Hereditary spastic paraplegia (HSP),

1:546–549

HERG gene, 1:683 Hermansky, F, 1:550

Hermansky-Pudlak syndrome (HPS),

1:44–46, 1:549–551

Hermaphroditism, 1:552–553 Heterochromatin repulsion, 1:72 Heterochromia, 2:1185 Heterotaxy syndrome, 1:112 Heterozygote advantage, 1:296 Heterozygous inheritance

autosomal dominant, 1:606–607 autosomal recessive, 1:607 autosomal semi-dominant, 1:607 X-linked dominant inheritance,

1:607–609

Hexosaminidase A, Tay-Sachs disease, 2:1115–1116

HF gene, 1:513

HF (Harlequin fetus), 1:513–515,

514

HFE gene, 1:518–519

HFU (Hand-foot-uterus syndrome), 1:512

Hidrotic ectodermal dysplasia, 1:369, 373

High-density lipoprotein cholesterol, 2:1109–1112

High-functioning autism, 1:109–110 High-performance liquid

chromatography, 2:1052

High resolution chromosome analysis, 2:1070

Hirschsprung’s disease, 1:554–556 McKusick type dysplasia, 2:734 Smith-Lemli-Opitz syndrome,

2:1068 Hirsutism, 2:937, 937

Histamine, asthma and, 1:117 Hitchhiker thumb, 1:338

HIV. See Human immunodeficiency virus

Index

GALE ENCYCLOPEDIA OF GENETIC DISORDERS

1327

Index

HLA. See Human leukocyte antigen HLA-B27 antigen, 1:94–96 HLA-DR gene, 1:329, 331 HLA-typing, IDDM diagnosis, 1:334

HME (Hereditary multiple exostoses),

1:540–542

HMG-CoA-reductase inhibitors, 1:584

hMLH1 gene

Muir-Torre syndrome, 2:758–760 stomach cancer, 2:1099

hMSH2 gene

Muir-Torre syndrome, 2:758–760 stomach cancer, 2:1099

HNPCC. See Hereditary nonpolyposis colon cancer

Holocarboxylase synthetase deficiency, 2:845, 846

Holoprosencephaly, 1:556–559 , 558 frontonasal dysplasia, 1:442 Kallman syndrome, 1:629

Patau syndrome, 2:891

Holt-Oram syndrome, 1:559–561 amelia, 1:70–71

Duane retraction syndrome, 1:354 Homeotic genes, 1:71

Homocystein methyltransferase deficiency, 2:844

Homocystinuria, 1:561–565 , 563–564, 2:710

Homogentisate 1,2-dioxygenase, 1:56–58

Homogentisic acid (HGA), 1:55–58

Homologous chromosomes Bloom syndrome, 1:163 gene structure, 1:456

Homozygous inheritance alkaptonuria, 1:57 amelia, 1:71

autosomal dominant, 1:606–607 autosomal recessive, 1:607 autosomal semi-dominant, 1:607 Ellis-van Creveld syndrome, 1:382 factor V Leiden thrombophilia,

1:404

X-linked dominant inheritance, 1:607–609

Hormone replacement therapy cancer demographics, 1:191 osteoporosis, 2:862–863

Hormone therapy

cancer management, 1:193, 198 growth hormone (See Growth

hormone therapy) prostate cancer, 2:960

Hormones acromegaly, 1:30

adrenocorticotropic, 1:264 Donohue syndrome, 1:345 follicle stimulating, 1:628–629,

637–638

gonadotropin releasing, 1:628–629 growth, 1:21, 587, 2:928–929 growth hormone-releasing,

2:926–929

human growth, 1:29–32 luteinizing, 1:628–629, 637–638 parathyroid, 2:766

thyroid releasing, 2:902–906 thyroid stimulating, 1:270–272 thyrotropin-releasing, 1:270–272

Housekeeping genes, 1:455

Howell-Jolly bodies, asplenia diagnosis, 1:114

HOXA13, hand-foot-uterus syndrome, 1:512

HPC1 gene, 2:958 HPRT gene, 1:660–661 HPS gene, 1:550–551

HPS (Hermansky-Pudlak syndrome),

1:44–46, 1:549–551

HSD11B2 gene, 2:985–987

HSP (Hereditary spastic paraplegia),

1:546–549

HSPG2 gene, 2:1029

Human Genome Project, 1:565–567 asthma research, 1:116

gene pool, 1:462

gene therapy, 1:466–468 genetic mapping, 1:458 genetics counseling, 1:472 pharmacogenetics, 2:918

Human growth hormone, acromegaly, 1:29–32

Human immunodeficiency virus (HIV) hemophilia, 1:526

thalidomide therapy, 2:1128

Human leukocyte antigen (HLA) ankylosing spondylitis, 1:94 disease associations, 2:699 insulin-dependent diabetes mellitus,

1:329, 331

major histocompatibility complex, 2:696–700

Humoral immune system hereditary angioneurotic edema,

1:527–529

major histocompatibility complex, 2:696–697

Hunter-MacMurray VACTERL association, 2:1170

Hunter syndrome, 1:567–569, 2: 755

Huntington disease (HD), 1:569–571 ,

571

Azorean disease, 1:136 chromosomal abnormalities, 1:237 dementia, 1:318 dentatorubral-pallidoluysian

atrophy, 1:321 gene therapy, 1:462

genetic counseling, 1:470, 570 presymptomatic testing, 1:478

Hurler-Scheie syndrome, MPS I H/S, 2:754

Hurler syndrome, 1:572–575 Hunter syndrome, 1:568 MPS I H deficiency, 2:754 mucolipidosis, 2:751

Hurler-variant, 1:487–490, 2: 807 Hutchinson, Jonathan, 2:952 Hyaluronidase deficiency, 2:756 Hydration therapy, cystinuria, 1:307

Hydrocephalus, 1:387, 1:575–578 , 577 accutane embryopathy, 1:12 achondroplasia, 1:19–20 Arnold-Chiari malformation, 1:103 Beare-Stevenson cutis gyrata

syndrome, 1:144 Carpenter syndrome, 1:206 cerebral palsy, 1:216 craniosynostosis, 1:286–287 Crouzon syndrome, 1:293 Dandy-Walker malformation,

1:309–310

Fraser syndrome, 1:435 management, 2:802 multifactorial inheritance,

2:761–762

Pallister-Hall syndrome, 2:874 Pfeiffer syndrome, 2:915–917 Walker-Warburg syndrome,

2:1187–1188 X-linked hydrocephaly,

2:1214–1218

Hydrolethalus syndrome, 1:578–579

Hydronephrosis, Schinzel-Giedion syndrome, 2:1022

Hydrops fetalis, 1:579–582 achondrogenesis, 1:15 Fryns syndrome, 1:443

21-Hydroxylase deficiency, 1:262 Hydroxyapatite, 1:591–593

Hydroxymethylbilane synthase gene, 2:941

Hydroxymethylglutaric acidemia, 2:844

Hydroxyurea, 2:1054–1055

Hyper responsiveness, asthma, 1:119–120

Hyperammonemia, 2:847–849 Hyperbilirubinemia, 1:151–152

Hyperimmunoglobulinemia D syndrome, 1:416

Hyperlipoproteinemia, 1:582–584

Hypermobility Ehlers-Danlos syndrome, 1:377–378

Hyperparathyroidism, 2:765–766

Hyperpigmentation, Fanconi anemia, 1:419

Hyperplasia

congenital adrenal, 1:261–265 hemihyperplasia, 1:147

1328

GALE ENCYCLOPEDIA OF GENETIC DISORDERS