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