Essential genetics 5 Disease map on chromosomes 例 Gaucher disease 単一遺伝子病 天使病院 Prader-Willi syndrome 隣接遺伝子症候群，欠失が主因となる疾患 臨床遺伝診療室 外木秀文 Trisomy 13 複数の遺伝子の重複によって起こる疾患 挿画 Koromo 遺伝子の座位あるいは欠失等の範囲を示す Copyright (c) 2010 Social Medical Corporation BOKOI All Rights Reserved. Disease map on chromosome 1 Gaucher disease Chromosome 1q21.1 1p36 deletion syndrome deletion syndrome Adrenoleukodystrophy, neonatal Cardiomyopathy, dilated, 1A Zellweger syndrome Charcot-Marie-Tooth disease Emery-Dreifuss muscular Hypercholesterolemia, familial dystrophy Hutchinson-Gilford progeria Ehlers-Danlos syndrome, type VI Muscular dystrophy, limb-girdle type Congenital disorder of Insensitivity to pain, congenital, glycosylation, type Ic with anhidrosis Diamond-Blackfan anemia 6 Charcot-Marie-Tooth disease Dejerine-Sottas syndrome Marshall syndrome Stickler syndrome, type II Chronic granulomatous disease due to deficiency of NCF-2 Alagille syndrome 2 Copyright (c) 2010 Social Medical Corporation BOKOI All Rights Reserved. Disease map on chromosome 2 Epiphyseal dysplasia, multiple Spondyloepimetaphyseal dysplasia Brachydactyly, type D-E, Noonan syndrome Brachydactyly-syndactyly syndrome Peters anomaly Synpolydactyly, type II and V Parkinson disease, familial Leigh syndrome Seizures, benign familial Multiple pterygium syndrome neonatal-infantile Escobar syndrome Ehlers-Danlos syndrome, Brachydactyly, type A1 type I, III, IV Waardenburg syndrome Rhizomelic chondrodysplasia punctata, type 3 Alport syndrome, autosomal recessive Split-hand/foot malformation Crigler-Najjar syndrome Copyright (c) 2010 Social Medical Corporation BOKOI All Rights Reserved. Disease map on chromosome 3 GM1-gangliosidosis, type I-III Seckel syndrome 1, Morquio syndrome B Blepharophimosis, epicanthus Larsen syndrome inversus, and ptosis Spondylocarpotarsal synostosis syndrome Dandy-Walker malformation Atelosteogenesis Epilepsy Tietz syndrome Waardenburg syndrome, type IIA Split-hand/foot malformation, type 4 Bardet-Biedl syndrome Glycogen storage disease IV Chromosome 3q29 microdeletion syndrome G l y Copyright (c) 2010 Social Medical Corporation BOKOI All Rights Reserved. Disease map on chromosome 4 Achondroplasia Wolf-Hirschhorn syndrome Hypochondroplasia Mucopolysaccharidosis Ih-Is Thanatophoric dysplasia, types I and II Huntington disease Wolfram syndrome Fraser syndrome Ellis-van Creveld syndrome Brachydactyly, type A2 Parkinson disease Chrondrodysplasia, acromesomelic Hirschsprung disease, short-segment Axenfeld-Rieger syndrome, type 1 Iridogoniodysgenesis, type 2 Peters anomaly Hypercalciuria, absorptive Copyright (c) 2010 Social Medical Corporation BOKOI All Rights Reserved. Disease map on chromosome 5 Craniometaphyseal dysplasia Adenomatous polyposis coli Cri-du-chat syndrome Cutis laxa, recessive, type I Brachydactyly, type A1 Clubfoot, congenital Laron dwarfism Achondrogenesis Ib-II Diastrophic dysplasia Hirschsprung disease Epiphyseal dysplasia Cornelia de Lange syndrome Treacher Collins mandibulofacial dysostosis Maroteaux-Lamy syndrome Parietal foramina with Cockayne syndrome cleidocranial dysplasia Sotos syndrome Weaver syndrome Copyright (c) 2010 Social Medical Corporation BOKOI All Rights Reserved. Disease map on chromosome 6 Chromosome 6pter-p24 Maple syrup urine disease, type Ib, deletion syndrome Iridogoniodysgenesis, type 1 Split-hand/foot malformation with Iris hypoplasia and glaucoma long deficiency 2 Rieger or Axenfeld anomalies Microphthalmia, syndromic 8 Branchiooculofacial syndrome Polycystic liver disease Stickler syndrome, type III Metaphyseal chondrodysplasia, Schmid type Glycogen storage disease Ic Atrioventricular septal defect Cleidocranial dysplasia Hypoplastic left heart syndrome Polycystic kidney and Oculodentodigital dysplasia hepatic disease Syndactyly, type III Char syndrome Refsum disease Rhizomelic chondrodysplasia Carpenter syndrome punctata, type 1 Copyright (c) 2010 Social Medical Corporation BOKOI All Rights Reserved. Disease map on chromosome 7 EEC syndrome-1 Saethre-Chotzen syndrome Split hand/foot malformation Growth hormone deficient dwarfism Citrullinemia, type II Acrocallosal syndrome Refsum disease, infantile Greig cephalopolysyndactyly Zellweger syndrome syndromePallister-Hall syndrome Adrenoleukodystrophy Silver-Russell syndrome Ehlers-Danlos syndrome, cardiac valvular form Osteogenesis imperfecta Cystic fibrosis Supravalvar aortic stenosis Leigh syndrome Williams-Beuren syndrome Wolff-Parkinson-White syndrome CHARGE syndrome Copyright (c) 2010 Social Medical Corporation BOKOI All Rights Reserved. Disease map on chromosome 8 Roberts syndrome Werner syndrome Antley-Bixler syndrome CHARGE syndrome Jackson-Weiss syndrome Kallmann syndrome Pfeiffer syndrome Branchiootorenal syndrome Sanfilippo syndrome Nijmegen breakage syndrome Cohen syndrome Trichorhinophalangeal syndromes, type I and III Exostoses, multiple, type 1 Rothmund-Thomson syndrome Copyright (c) 2010 Social Medical Corporation BOKOI All Rights Reserved. Disease map on chromosome 9 Chromosome 9p deletion Friedreich ataxia syndrome Brachydactyly, type B1 Arthrogryposis multiplex congenita, distal Robinow syndrome Nemaline myopathy Walker-Warburg syndrome Melkersson-Rosenthal syndrome Tuberous sclerosis-1 Citrullinemia Nail-patella syndrome Walker-Warburg syndrome Ehlers-Danlos syndrome, types I and II Chromosome 9q subtelomeric deletion syndrome Copyright (c) 2010 Social Medical Corporation BOKOI All Rights Reserved. Disease map on chromosome 10 Cockayne syndrome De Sanctis-Cacchione syndrome Brugada syndrome Hirschsprung disease Dejerine-Sottas neuropathy Cardiomyopathy, dilated Proteus syndrome Cowden disease VATER association with hydrocephalus Dubin-Johnson syndrome Pfeiffer syndrome Apert syndrome Antley-Bixler syndrome Jackson-Weiss syndrome Copyright (c) 2010 Social Medical Corporation BOKOI All Rights Reserved. Disease map on chromosome 11 Sickle cell anemia Thalassemia-beta Costello syndrome Beckwith-Wiedemann syndrome Long QT syndrome Smith-Lemli-Opitz syndrome Niemann-Pick disease Alexander disease Wilms tumor WAGR syndrome Bardet-Biedl syndrome Frasier syndrome Multiple endocrine neoplasia I Omenn syndrome Osteopetrosis, Aniridia Ataxia-telangiectasia Tourette syndrome Copyright (c) 2010 Social Medical Corporation BOKOI All Rights Reserved. Disease map on chromosome 12 Zellweger syndrome Costello syndrome Epidermolysis bullosa simplex Stickler syndrome SED congenita Achondrogenesis -hypochondrogenesis, type II Holt-Oram syndrome Noonan syndrome Leopard syndrome Copyright (c) 2010 Social Medical Corporation BOKOI All Rights Reserved. Disease map on chromosome 13 Moebius syndrome Peters-plus syndrome Cryptorchidism, bilateral Fraser syndrome Retinoblastoma Wilson disease Trisomy 13 Copyright (c) 2010 Social Medical Corporation BOKOI All Rights Reserved. Disease map on chromosome 14 Cardiomyopathy, familial hypertrophic Rett syndrome Machado-Joseph disease Krabbe disease Cutis laxa Agammaglobulinemia IgG2 deficiency, selective Copyright (c) 2010 Social Medical Corporation BOKOI All Rights Reserved. Disease map on chromosome 15 Prader-Willi syndrome Angelman syndrome Albinism Epilepsy, childhood absence Johanson-Blizzard syndrome Bartter syndrome Marfan syndrome Shprintzen-Goldberg syndrome Tay-Sachs disease Bloom syndrome Spondylocostal dysostosis, Copyright (c) 2010 Social Medical Corporation BOKOI All Rights Reserved. Disease map on chromosome 16 Thalassemia, alpha Tuberous sclerosis Rubenstein-Taybi syndrome Familial Mediterranean fever Osteopetrosis Copyright (c) 2010 Social Medical Corporation BOKOI All Rights Reserved. Disease map on chromosome 17 Miller-Dieker syndrome Arthrogryposis, distal, type 2A Li-Fraumeni syndrome Neurofibromatosis, type 1 Charcot-Marie-Tooth disease, Epidermolysis bullosa simplex type 1A Ehlers-Danlos syndrome, type I Dejerine-Sottas disease Osteogenesis imperfecta, type I Sjogren-Larsson syndrome Growth hormone deficiency Smith-Magenis syndrome Bardet-Biedl syndrome 13 Campomelic dysplasia Usher syndrome, type 1G Copyright (c) 2010 Social Medical Corporation BOKOI All Rights Reserved. Disease map on chromosome 18 Seckel syndrome Amyloid polyneuropathy Niemann-Pick disease, type C1 Trisomy 18 Copyright (c) 2010 Social Medical Corporation BOKOI All Rights Reserved. Disease map on chromosome 19 Hypercholesterolemia, familial Diabetes mellitus, insulin-resistant Leprechaunism, Rabson-Mendenhall syndrome Leigh syndrome Maple syrup urine disease, type Ia Pseudoachondroplasia Myotonic dystrophy Branchiootorenal syndrome 2 Walker-Warburg syndrome Copyright (c) 2010 Social Medical Corporation BOKOI All Rights Reserved. Disease map on chromosome 20 Kallman syndrome 3 Anonychia congenita Alagile syndrome Brachydactyly and related syndromes Tetralogy of Fallot SCID / ADA defeciency McCune Albright syndrome Hirschsprung disease Copyright (c) 2010 Social Medical Corporation BOKOI All Rights Reserved. Disease map on chromosome 21 Leukemia, transient, of Down syndrome Alzheimer disease Dementia, early-onset progressive Amyotrophic lateral sclerosis, due to SOD1 deficiency Down syndrome, critical region Trisomy 21 Copyright (c) 2010 Social Medical Corporation BOKOI All Rights Reserved. Disease map on chromosome 22 Cat eye syndrome Adrenoleukodystrophy, neonatal Zellweger syndrome Chromosome 22q11.2 deletion syndrome Neurofibromatosis, type 2 DiGeorge syndrome Velocardiofacial syndrome Rubinstein-Taybi syndrome Waardenburg syndrome, type IIE Chromosome 22q13.3 deletion syndrome Metachromatic leukodystrophy Congenital disorder of glycosylation, type