Lista de trastornos genéticos

Artículo principal: Genetic disorders The following is a list of genetic disorders and their origins. Beside most disorders is a code that indicates the type of mutation and the chromosome involved. It currently needs editing down to a list of conditions of interest to psychologists. Common disorders Disorder Mutation Chromosome Angelman syndrome DCP 15 Canavan disease Charcot-Marie-Tooth disease Color blindness P X Cystic fibrosis P Down syndrome C 21 Hemophilia P X Joubert syndrome Klinefelter syndrome C X Neurofibromatosis Pelizaeus-Merzbacher disease Phenylketonuria P Prader-Willi syndrome DC 15 Spina bifida P 1 Tay-Sachs disease P Turner syndrome C X Legend: P - Point mutation, or any insertion/deletion entirely inside one gene D - Deletion of a gene or genes C - Whole chromosome extra, missing, or both Full list Contents: Top - 0–9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 0–9 Disorder Mutation Chromosome 21-hydroxylase deficiency 45,X see Turner syndrome 47,XX,+21 see Down syndrome 47,XXX see triple X syndrome 47,XXY see Klinefelter syndrome 47,XY,+21 see Down syndrome 47,XYY syndrome 5-ALA dehydratase-deficient porphyria see ALAD deficiency porphyria 5-aminolaevulinic dehydratase deficiency porphyria see ALAD deficiency porphyria 5p deletion syndrome see Cri du chat 5p- syndrome see Cri du chat A Disorder Mutation Chromosome A-T see ataxia-telangiectasia AAT see alpha-1 antitrypsin deficiency Absence of vas deferens see congenital bilateral absence of vas deferens Absent vasa see congenital bilateral absence of vas deferens ACG2 see achondrogenesis, type II ACH see achondroplasia achondrogenesis, type II achondroplasia Acid beta-glucosidase deficiency see Gaucher disease, tipo 1 Acrocephalosyndactyly (Apert) see Apert syndrome acrocephalosyndactyly, type V see Pfeiffer syndrome Acrocephaly see Apert syndrome Acute cerebral Gaucher's disease see Gaucher disease, tipo 2 acute intermittent porphyria ACY2 deficiency see Canavan disease AD Adelaide-type craniosynostosis see Muenke syndrome Adenomatous Polyposis Coli see familial adenomatous polyposis Adenomatous Polyposis of the Colon see familial adenomatous polyposis ADP see ALAD deficiency porphyria Adrenal Gland Disorders see 21-hydroxylase deficiency Adrenogenital syndrome see 21-hydroxylase deficiency AIP see acute intermittent porphyria AIS see androgen insensitivity syndrome AKU see alkaptonuria ALA dehydratase porphyria see ALAD deficiency porphyria ALA-D porphyria see ALAD deficiency porphyria ALAD deficiency porphyria Alcaptonuria see alkaptonuria Alexander disease alkaptonuria Alkaptonuric ochronosis see alkaptonuria alpha-1 antitrypsin deficiency alpha-1 proteinase inhibitor see alpha-1 antitrypsin deficiency alpha-1 related emphysema see alpha-1 antitrypsin deficiency Alpha-galactosidase A deficiency see Fabry disease ALS see amyotrophic lateral sclerosis Alström syndrome ALX see Alexander disease Alzheimer disease Alzheimer's disease see Alzheimer disease Amelogenesis Imperfecta see Amelogenesis imperfecta Amino levulinic acid dehydratase deficiency see ALAD deficiency porphyria Aminoacylase 2 deficiency see Canavan disease amyotrophic lateral sclerosis Anderson-Fabry disease see Fabry disease androgen insensitivity syndrome Anemia Anemia, hereditary sideroblastic see X-linked sideroblastic anemia Anemia, sex-linked hypochromic sideroblastic see X-linked sideroblastic anemia Anemia, splenic, familial see Gaucher disease Angelman syndrome Angiokeratoma Corporis Diffusum see Fabry disease Angiokeratoma diffuse see Fabry disease Angiomatosis retinae see von Hippel-Lindau disease ANH1 see X-linked sideroblastic anemia APC resistance, Leiden type see factor V Leiden thrombophilia Apert syndrome AR deficiency see androgen insensitivity syndrome AR-CMT2 see Charcot-Marie-Tooth disease, tipo 2 Arachnodactyly see Marfan syndrome ARNSHL see nonsyndromic deafness, autosomal recessive Arthro-ophthalmopathy, hereditary progressive see Stickler syndrome, COL2A1 Arthrochalasis multiplex congenita see Ehlers-Danlos syndrome, arthrochalasia type AS see Angelman syndrome Asp deficiency see Canavan disease Aspa deficiency see Canavan disease Aspartoacylase deficiency see Canavan disease ataxia-telangiectasia Autism-Dementia-Ataxia-Loss of Purposeful Hand Use syndrome see Rett syndrome autosomal dominant juvenile ALS see amyotrophic lateral sclerosis, tipo 4 autosomal recessive form of juvenile ALS type 3 see amyotrophic lateral sclerosis, tipo 2 Autosomal recessive nonsyndromic hearing loss see nonsyndromic deafness, autosomal recessive Autosomal Recessive Sensorineural Hearing Impairment and Goiter see Pendred syndrome AxD see Alexander disease Ayerza syndrome see primary pulmonary hypertension B Disorder Mutation Chromosome B variant of the Hexosaminidase GM2 gangliosidosis see Sandhoff disease BANF see neurofibromatosis 2 Beare-Stevenson cutis gyrata syndrome Benign paroxysmal peritonitis see Mediterranean fever, familial beta thalassemia BH4 Deficiency see tetrahydrobiopterin deficiency Bilateral Acoustic Neurofibromatosis see neurofibromatosis 2 biotinidase deficiency bladder cancer Bleeding Disorders see factor V Leiden thrombophilia Bloch-Sulzberger syndrome see incontinentia pigmenti Bone diseases Bone Marrow diseases see X-linked sideroblastic anemia Bonnevie-Ullrich syndrome see Turner syndrome Bourneville disease see tuberous sclerosis Bourneville Phakomatosis see tuberous sclerosis Brain diseases see prion disease breast cancer Birt-Hogg-Dubé syndrome 17 Brittle bone disease see osteogenesis imperfecta Broad Thumb-Hallux syndrome see Rubinstein-Taybi syndrome Bronze Diabetes see hemochromatosis Bronzed cirrhosis see hemochromatosis Bulbospinal muscular atrophy, X-linked see spinal and bulbar muscular atrophy Burger-Grutz syndrome see lipoprotein lipase deficiency, familial C Disorder Mutation Chromosome CADASIL Canavan disease Cancer Cancer Family syndrome see hereditary nonpolyposis colorectal cancer Cancer of breast see breast cancer Cancer of the bladder see bladder cancer Carboxylase Deficiency, Multiple, Late-Onset see biotinidase deficiency Cardiomyopathy see Noonan syndrome Carpal Tunnel syndrome see hereditary neuropathy with liability to pressure palsies Cat cry syndrome see Cri du chat CAVD see congenital bilateral absence of vas deferens CBAVD see congenital bilateral absence of vas deferens CEP see congenital erythropoietic porphyria Ceramide trihexosidase deficiency see Fabry disease Cerebelloretinal Angiomatosis, familial see von Hippel-Lindau disease Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy see CADASIL Cerebral autosomal dominant ateriopathy with subcortical infarcts and leukoencephalopathy see CADASIL cerebral sclerosis see tuberous sclerosis Cerebroatrophic Hyperammonemia see Rett syndrome Cerebroside Lipidosis syndrome see Gaucher disease CF see cystic fibrosis CH see congenital hypothyroidism Charcot disease see amyotrophic lateral sclerosis Charcot-Marie-Tooth disease Chondrodystrophia see achondroplasia Chondrodystrophy syndrome see achondroplasia Chondrodystrophy with sensorineural deafness see otospondylomegaepiphyseal dysplasia Chondrogenesis imperfecta see achondrogenesis, type II Choreoathetosis self-mutilation hyperuricemia syndrome see Lesch-Nyhan syndrome Classic Galactosemia see galactosemia Classical Ehlers-Danlos syndrome see Ehlers-Danlos syndrome, classical type Classical Phenylketonuria see phenylketonuria Cleft Lip and Palate see Stickler syndrome Cloverleaf skull with thanatophoric dwarfism see thanatophoric dysplasia, tipo 2 CLS see Coffin-Lowry syndrome CMT see Charcot-Marie-Tooth disease Cockayne syndrome Coffin-Lowry syndrome collagenopathy, types II and XI Colon Cancer, familial Nonpolyposis see hereditary nonpolyposis colorectal cancer Colon cancer, familial see familial adenomatous polyposis Colorectal Cancer Complete HPRT deficiency see Lesch-Nyhan syndrome Complete hypoxanthine-guanine phosphoribosyltransferase deficiency see Lesch-Nyhan syndrome compression neuropathy see hereditary neuropathy with liability to pressure palsies Congenital adrenal hyperplasia see 21-hydroxylase deficiency congenital bilateral absence of vas deferens congenital erythropoietic porphyria Congenital heart disease congenital hypomyelination see Charcot-Marie-Tooth disease, tipo 1 see Charcot-Marie-Tooth disease, tipo 4 congenital hypothyroidism congenital methemoglobinemia see methemoglobinemia, beta-globin type Congenital osteosclerosis see achondroplasia Congenital sideroblastic anaemia see X-linked sideroblastic anemia Connective Tissue Disorders Cooley's Anemia see beta thalassemia Copper storage disease see Wilson disease Copper transport disease see Menkes syndrome Coproporphyria, hereditary see hereditary coproporphyria Coproporphyrinogen oxidase deficiency see hereditary coproporphyria Cowden syndrome CPO deficiency see hereditary coproporphyria CPRO deficiency see hereditary coproporphyria CPX deficiency see hereditary coproporphyria Craniofacial dysarthrosis see Crouzon syndrome Craniofacial Dysostosis see Crouzon syndrome Cretinism see congenital hypothyroidism Creutzfeldt-Jakob disease see prion disease Cri du chat Crouzon syndrome Crouzon syndrome with acanthosis nigricans see Crouzonodermoskeletal syndrome Crouzonodermoskeletal syndrome CS see Cockayne syndrome see Cowden syndrome Curschmann-Batten-Steinert syndrome see myotonic dystrophy cutis gyrata syndrome of Beare-Stevenson see Beare-Stevenson cutis gyrata syndrome cystic fibrosis D Disorder Mutation Chromosome D-glycerate dehydrogenase deficiency see hyperoxaluria, primary Dappled metaphysis syndrome see spondyloepimetaphyseal dysplasia, Strudwick type DAT - Dementia Alzheimer's type see Alzheimer disease DBMD see muscular dystrophy, Duchenne and Becker types Deafness with goiter see Pendred syndrome Deafness-retinitis pigmentosa syndrome see Usher syndrome Deficiency disease, Phenylalanine Hydroxylase see phenylketonuria Degenerative Nerve diseases Dejerine-Sottas syndrome see Charcot-Marie-Tooth disease Delta-aminolevulinate dehydratase deficiency porphyria see ALAD deficiency porphyria Dementia see CADASIL demyelinogenic leukodystrophy see Alexander disease Dermatosparactic type of Ehlers-Danlos syndrome see Ehlers-Danlos syndrome, dermatosparaxis type Dermatosparaxis see Ehlers-Danlos syndrome, dermatosparaxis type Developmental Disabilities dHMN see amyotrophic lateral sclerosis, tipo 4 DHMN-V see distal spinal muscular atrophy, type V DHTR deficiency see androgen insensitivity syndrome Diffuse Globoid Body Sclerosis see Krabbe disease Dihydrotestosterone receptor deficiency see androgen insensitivity syndrome distal spinal muscular atrophy, type V DM1 see myotonic dystrophy, tipo 1 DM2 see myotonic dystrophy, tipo 2 Down syndrome DSMAV see distal spinal muscular atrophy, type V DSN see Charcot-Marie-Tooth disease, tipo 4 DSS see Charcot-Marie-Tooth disease, tipo 4 Duchenne/Becker muscular dystrophy see muscular dystrophy, Duchenne and Becker types Dwarf, achondroplastic see achondroplasia Dwarf, thanatophoric see thanatophoric dysplasia Dwarfism Dwarfism-retinal atrophy-deafness syndrome see Cockayne syndrome dysmyelinogenic leukodystrophy see Alexander disease Dystrophia myotonica see myotonic dystrophy dystrophia retinae pigmentosa-dysostosis syndrome see Usher syndrome E Disorder Mutation Chromosome Early-Onset familial Alzheimer disease (EOFAD) see Alzheimer disease, tipo 1 see Alzheimer disease, tipo 3 see Alzheimer disease, tipo 4 EDS see Ehlers-Danlos syndrome Ehlers-Danlos syndrome Ekman-Lobstein disease see osteogenesis imperfecta entrapment neuropathy see hereditary neuropathy with liability to pressure palsies Epiloia see tuberous sclerosis EPP see erythropoietic protoporphyria Erythroblastic Anemia see beta thalassemia Erythrohepatic protoporphyria see erythropoietic protoporphyria Erythroid 5-aminolevulinate synthetase deficiency see X-linked sideroblastic anemia Erythropoietic Porphyria see congenital erythropoietic porphyria erythropoietic protoporphyria Erythropoietic uroporphyria see congenital erythropoietic porphyria Eye cancer see retinoblastoma FA - Friedreich ataxia see Friedreich ataxia F Disorder Mutation Chromosome Fabry disease Xq22.1 Facial Injuries and Disorders factor V Leiden thrombophilia FALS see amyotrophic lateral sclerosis familial Acoustic Neuromas see neurofibromatosis 2 familial adenomatous polyposis familial Alzheimer disease (FAD) see Alzheimer disease familial amyotrophic lateral sclerosis see amyotrophic lateral sclerosis familial dysautonomia familial fat-induced hypertriglyceridemia see lipoprotein lipase deficiency, familial familial Hemochromatosis see hemochromatosis familial LPL deficiency see lipoprotein lipase deficiency, familial familial nonpolyposis colon cancer see hereditary nonpolyposis colorectal cancer familial paroxysmal polyserositis see Mediterranean fever, familial familial PCT see porphyria cutanea tarda familial pressure sensitive neuropathy see hereditary neuropathy with liability to pressure palsies familial primary pulmonary hypertension (FPPH) see primary pulmonary hypertension familial Turner syndrome see Noonan syndrome familial vascular leukoencephalopathy see CADASIL FAP see familial adenomatous polyposis FD see familial dysautonomia Female Pseudo-Turner syndrome see Noonan syndrome Ferrochelatase deficiency see erythropoietic protoporphyria ferroportin disease see hemochromatosis, tipo 4 Fever see Mediterranean fever, familial FGFR3-associated coronal synostosis see Muenke syndrome fibrinoid degeneration of astrocytes see Alexander disease Fibrocystic disease of Pancreas see cystic fibrosis FMF see Mediterranean fever, familial Folling disease see phenylketonuria fra(X) syndrome see fragile X syndrome fragile X syndrome Fragilitas ossium see osteogenesis imperfecta FRAXA syndrome see fragile X syndrome FRDA see Friedreich ataxia Friedreich ataxia FXS see fragile X syndrome G Disorder Mutation Chromosome Galactokinase Deficiency disease see galactosemia Galactose-1-Phosphate Uridyl-Transferase Deficiency disease see galactosemia galactosemia Galactosylceramidase Deficiency disease see Krabbe disease Galactosylceramide lipidosis see Krabbe disease galactosylcerebrosidase deficiency see Krabbe disease galactosylsphingosine lipidosis see Krabbe disease GALC deficiency see Krabbe disease GALT Deficiency see galactosemia Gaucher disease Gaucher's disease Gaucher-Like disease see pseudo-Gaucher disease GBA deficiency see Gaucher disease, tipo 1 GD see Gaucher disease Genetic Brain Disorders genetic emphysema see alpha-1 antitrypsin deficiency genetic hemochromatosis see hemochromatosis Giant cell hepatitis, neonatal see hemochromatosis, neonatal GLA deficiency see Fabry disease Glioblastoma, retinal see retinoblastoma Glioma, retinal see retinoblastoma globoid cell leukodystrophy (GCL, GLD) see Krabbe disease globoid cell leukoencephalopathy see Krabbe disease Glucocerebrosidase deficiency see Gaucher disease Glucocerebrosidosis see Gaucher disease Glucosyl cerebroside lipidosis see Gaucher disease Glucosylceramidase deficiency see Gaucher disease Glucosylceramide beta-glucosidase deficiency see Gaucher disease Glucosylceramide lipidosis see Gaucher disease glyceric aciduria see hyperoxaluria, primary glycolic aciduria see hyperoxaluria, primary GM2 gangliosidosis, tipo 1 see Tay-Sachs disease Goiter-deafness syndrome see Pendred syndrome Graefe-Usher syndrome see Usher syndrome Gronblad-Strandberg syndrome see pseudoxanthoma elasticum Guenther porphyria see congenital erythropoietic porphyria Gunther disease see congenital erythropoietic porphyria H Disorder Mutation Chromosome Haemochromatosis see hemochromatosis Hallgren syndrome see Usher syndrome Hb S disease see sickle cell anemia HCH see hypochondroplasia HCP see hereditary coproporphyria Head and Brain Malformations Hearing Disorders and Deafness Hearing Problems in Children HEF2A see hemochromatosis, tipo 2 HEF2B see hemochromatosis, tipo 2 Hematoporphyria see porphyria Heme synthetase deficiency see erythropoietic protoporphyria Hemochromatoses see hemochromatosis hemochromatosis hemoglobin M disease see methemoglobinemia, beta-globin type Hemoglobin S disease see sickle cell anemia hemophilia HEP see hepatoerythropoietic porphyria hepatic AGT deficiency see hyperoxaluria, primary hepatoerythropoietic porphyria Hepatolenticular degeneration syndrome see Wilson disease hereditary arthro-ophthalmopathy see Stickler syndrome hereditary coproporphyria hereditary dystopic lipidosis see Fabry disease hereditary Hemochromatosis (HHC) see hemochromatosis hereditary iron-loading anemia see X-linked sideroblastic anemia hereditary motor and sensory neuropathy see Charcot-Marie-Tooth disease hereditary motor neuronopathy see spinal muscular atrophy hereditary motor neuronopathy, type V see distal spinal muscular atrophy, type V hereditary neuropathy with liability to pressure palsies hereditary nonpolyposis colorectal cancer DNA mismatch repair dysfunction usually in MSH2 and MLH1 genes usually chromosomes 2 y 3 hereditary Periodic Fever syndromes see Mediterranean fever, familial hereditary Polyposis Coli see familial adenomatous polyposis hereditary pulmonary emphysema see alpha-1 antitrypsin deficiency hereditary resistance to activated protein C see factor V Leiden thrombophilia hereditary sensory and autonomic neuropathy type III see familial dysautonomia hereditary Spastic Paraplegia see infantile-onset ascending hereditary spastic paralysis hereditary spinal ataxia see Friedreich ataxia hereditary Spinal Sclerosis see Friedreich ataxia Herrick's anemia see sickle cell anemia Heterozygous OSMED see Weissenbacher-Zweymüller syndrome Heterozygous otospondylomegaepiphyseal dysplasia see Weissenbacher-Zweymüller syndrome HexA deficiency see Tay-Sachs disease Hexosaminidase A deficiency see Tay-Sachs disease Hexosaminidase alpha-subunit deficiency (variant B) see Tay-Sachs disease HFE-associated hemochromatosis see hemochromatosis HGPS see Hutchinson-Gilford progeria syndrome Hippel-Lindau disease see von Hippel-Lindau disease HLAH see hemochromatosis HMN V see distal spinal muscular atrophy, type V HMSN see Charcot-Marie-Tooth disease HNPCC see hereditary nonpolyposis colorectal cancer HNPP see hereditary neuropathy with liability to pressure palsies homocystinuria Homogentisic acid oxidase deficiency see alkaptonuria Homogentisic acidura see alkaptonuria Homozygous porphyria cutanea tarda see hepatoerythropoietic porphyria HP1 see hyperoxaluria, primary HP2 see hyperoxaluria, primary HPA see hyperphenylalaninemia HPRT - Hypoxanthine-guanine phosphoribosyltransferase deficiency see Lesch-Nyhan syndrome HSAN Type III see familial dysautonomia HSAN3 see familial dysautonomia HSN-III see familial dysautonomia Human dermatosparaxis see Ehlers-Danlos syndrome, dermatosparaxis type Huntington disease Huntington's disease see Huntington disease Hutchinson-Gilford progeria syndrome Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency see 21-hydroxylase deficiency Hyperchylomicronemia, familial see lipoprotein lipase deficiency, familial hyperglycinemia with ketoacidosis and leukopenia see propionic acidemia Hyperlipoproteinemia Type I see lipoprotein lipase deficiency, familial hyperoxaluria, primary hyperphenylalaninaemia see hyperphenylalaninemia hyperphenylalaninemia Hypochondrodysplasia see hypochondroplasia hypochondrogenesis hypochondroplasia Hypochromic anemia see X-linked sideroblastic anemia Hypocupremia, Congenital see Menkes syndrome hypoxanthine phosphoribosyltransferse (HPRT) deficiency see Lesch-Nyhan syndrome I Disorder Mutation Chromosome IAHSP see infantile-onset ascending hereditary spastic paralysis idiopathic hemochromatosis see hemochromatosis, tipo 3 Idiopathic neonatal hemochromatosis see hemochromatosis, neonatal Idiopathic pulmonary hypertension see primary pulmonary hypertension Immune System and Disorders see X-linked severe combined immunodeficiency incontinentia pigmenti Infantile cerebral Gaucher's disease see Gaucher disease, tipo 2 Infantile Gaucher disease see Gaucher disease, tipo 2 infantile-onset ascending hereditary spastic paralysis Infertility inherited emphysema see alpha-1 antitrypsin deficiency Inherited Human Transmissible Spongiform Encephalopathies see prion disease inherited tendency to pressure palsies see hereditary neuropathy with liability to pressure palsies Insley-Astley syndrome see otospondylomegaepiphyseal dysplasia Intermittent acute porphyria syndrome see acute intermittent porphyria Intestinal polyposis-cutaneous pigmentation syndrome see Peutz-Jeghers syndrome IP see incontinentia pigmenti Iron storage disorder see hemochromatosis Isolated deafness see nonsyndromic deafness J Disorder Mutation Chromosome Jackson-Weiss syndrome JH see hemochromatosis, tipo 2 JPLS see primary lateral sclerosis, juvenile juvenile amyotrophic lateral sclerosis see amyotrophic lateral sclerosis, tipo 2 Juvenile gout, choreoathetosis, mental retardation syndrome see Lesch-Nyhan syndrome juvenile hyperuricemia syndrome see Lesch-Nyhan syndrome juvenile PLS see primary lateral sclerosis, juvenile JWS see Jackson-Weiss syndrome K Disorder Mutation Chromosome KD see spinal and bulbar muscular atrophy Kennedy disease see spinal and bulbar muscular atrophy Kennedy spinal and bulbar muscular atrophy see spinal and bulbar muscular atrophy Kerasin histiocytosis see Gaucher disease Kerasin lipoidosis see Gaucher disease Kerasin thesaurismosis see Gaucher disease ketotic glycinemia see propionic acidemia ketotic hyperglycinemia see propionic acidemia Kidney diseases see hyperoxaluria, primary Kinky Hair syndrome see Menkes syndrome Klinefelter syndrome Klinefelter's syndrome see Klinefelter syndrome Kniest dysplasia Krabbe disease L Disorder Mutation Chromosome Lacunar Dementia see CADASIL Langer-Saldino achondrogenesis see achondrogenesis, type II Langer-Saldino dysplasia see achondrogenesis, type II Late Onset Alzheimer disease see Alzheimer disease, tipo 2 Late-Onset familial Alzheimer disease (AD2) see Alzheimer disease, tipo 2 late-onset Krabbe disease (LOKD) see Krabbe disease Learning Disorders Lentiginosis, Perioral see Peutz-Jeghers syndrome Lesch-Nyhan syndrome Leukodystrophies leukodystrophy with Rosenthal fibers see Alexander disease Leukodystrophy, spongiform see Canavan disease LFS see Li-Fraumeni syndrome Li-Fraumeni syndrome Lipase D deficiency see lipoprotein lipase deficiency, familial LIPD deficiency see lipoprotein lipase deficiency, familial Lipidosis, cerebroside see Gaucher disease Lipidosis, ganglioside, infantile see Tay-Sachs disease Lipoid histiocytosis (kerasin type) see Gaucher disease lipoprotein lipase deficiency, familial Liver diseases see galactosemia Lou Gehrig disease see amyotrophic lateral sclerosis Louis-Bar syndrome see ataxia-telangiectasia Lynch syndrome see hereditary nonpolyposis colorectal cancer Lysyl-hydroxylase deficiency see Ehlers-Danlos syndrome, kyphoscoliosis type M Disorder Mutation Chromosome Machado-Joseph Disease see Spinocerebellar ataxia type 3 Male Breast Cancer see breast cancer Male Genital Disorders Male Turner syndrome see Noonan syndrome Malignant neoplasm of breast see breast cancer malignant tumor of breast see breast cancer Malignant tumor of urinary bladder see bladder cancer Mammary cancer see breast cancer Marfan syndrome Marker X syndrome see fragile X syndrome Martin-Bell syndrome see fragile X syndrome Mediterranean Anemia see beta thalassemia Mediterranean fever, familial Mega-epiphyseal dwarfism see otospondylomegaepiphyseal dysplasia Menkea syndrome see Menkes syndrome Menkes syndrome Mental retardation with osteocartilaginous abnormalities see Coffin-Lowry syndrome Metabolic Disorders Metatropic dwarfism, type II see Kniest dysplasia Metatropic dysplasia type II see Kniest dysplasia methemoglobinemia, beta-globin type methylmalonic acidemia MFS see Marfan syndrome MHAM see Cowden syndrome MK - Menkes syndrome see Menkes syndrome Microcephaly P 1q31 (ASPM) MMA see methylmalonic acidemia MNK - Menkes syndrome see Menkes syndrome monosomy X see Turner syndrome Motor Neuron disease, Amyotrophic Lateral Sclerosis see amyotrophic lateral sclerosis Movement Disorders Mucoviscidosis see cystic fibrosis Muenke syndrome Multi-Infarct Dementia see CADASIL Multiple Carboxylase Deficiency, Late-Onset see biotinidase deficiency Multiple hamartoma syndrome see Cowden syndrome Multiple neurofibromatosis see neurofibromatosis Muscular Dystrophy muscular dystrophy, Duchenne and Becker types Myotonia atrophica see myotonic dystrophy Myotonia dystrophica see myotonic dystrophy myotonic dystrophy Myxedema, Congenital see congenital hypothyroidism N Disorder Mutation Chromosome Nance-Insley syndrome see otospondylomegaepiphyseal dysplasia Nance-Sweeney chondrodysplasia see otospondylomegaepiphyseal dysplasia NBIA1 see pantothenate kinase-associated neurodegeneration Neill-Dingwall syndrome see Cockayne syndrome Neuroblastoma, retinal see retinoblastoma Neurodegeneration with Brain Iron Accumulation Type 1 see pantothenate kinase-associated neurodegeneration neurofibromatosis Neurologic diseases Neuromuscular Disorders neuronopathy, distal hereditary motor, type V see distal spinal muscular atrophy, type V neuronopathy, distal hereditary motor, with pyramidal features see amyotrophic lateral sclerosis, tipo 4 NF see neurofibromatosis Niemann-Pick see Niemann-Pick disease NPA, NPB, NPC1, NPC2, SMPD1 Noack syndrome see Pfeiffer syndrome Non-Neuronopathic Gaucher disease see Gaucher disease, tipo 1 Non-Phenylketonuric Hyperphenylalaninemia see tetrahydrobiopterin deficiency nonsyndromic deafness Noonan syndrome Norrbottnian Gaucher disease see Gaucher disease, tipo 3 O Disorder Mutation Chromosome Ochronosis see alkaptonuria Ochronotic arthritis see alkaptonuria OI see osteogenesis imperfecta OSMED see otospondylomegaepiphyseal dysplasia osteogenesis imperfecta Osteopsathyrosis see osteogenesis imperfecta Osteosclerosis congenita see achondroplasia Oto-spondylo-megaepiphyseal dysplasia see otospondylomegaepiphyseal dysplasia otospondylomegaepiphyseal dysplasia Oxalosis see hyperoxaluria, primary Oxaluria, Primary see hyperoxaluria, primary P Disorder Mutation Chromosome pantothenate kinase-associated neurodegeneration Patau Syndrome (Trisomía 13) PBGD deficiency see acute intermittent porphyria PCC deficiency see propionic acidemia PCT see porphyria cutanea tarda PDM see myotonic dystrophy, tipo 2 Pendred syndrome Periodic disease see Mediterranean fever, familial Periodic peritonitis see Mediterranean fever, familial Periorificial lentiginosis syndrome see Peutz-Jeghers syndrome Peripheral Nerve Disorders see familial dysautonomia Peripheral Neurofibromatosis see neurofibromatosis 1 Peroneal Muscular Atrophy see Charcot-Marie-Tooth disease peroxisomal alanine:glyoxylate aminotransferase deficiency see hyperoxaluria, primary Peutz-Jeghers syndrome Pfeiffer syndrome Phenylalanine Hydroxylase Deficiency disease see phenylketonuria phenylketonuria Pheochromocytoma see von Hippel-Lindau disease Pierre Robin syndrome with fetal chondrodysplasia see Weissenbacher-Zweymüller syndrome Pigmentary cirrhosis see hemochromatosis PJS see Peutz-Jeghers syndrome PKAN see pantothenate kinase-associated neurodegeneration PKU see phenylketonuria PLSJ see primary lateral sclerosis, juvenile Plumboporphyria see ALAD deficiency porphyria PMA see Charcot-Marie-Tooth disease Polyposis coli see familial adenomatous polyposis Polyposis, hamartomatous intestinal see Peutz-Jeghers syndrome Polyposis, Intestinal, II see Peutz-Jeghers syndrome Polyps-and-spots syndrome see Peutz-Jeghers syndrome Porphobilinogen synthase deficiency see ALAD deficiency porphyria porphyria porphyrin disorder see porphyria PPH see primary pulmonary hypertension PPOX deficiency see variegate porphyria Prader-Labhart-Willi syndrome see Prader-Willi syndrome Prader-Willi syndrome Presenile and senile dementia see Alzheimer disease Primary Hemochromatosis see hemochromatosis primary hyperuricemia syndrome see Lesch-Nyhan syndrome primary lateral sclerosis, juvenile primary pulmonary hypertension Primary Senile Degenerative Dementia see Alzheimer disease prion disease Procollagen type EDS VII, mutant see Ehlers-Danlos syndrome, arthrochalasia type Progeria see Hutchinson-Gilford progeria syndrome Progeria-Like syndrome see Cockayne syndrome progeroid nanism see Cockayne syndrome Progressive Chorea, Chronic hereditary (Huntington) see Huntington disease Progressive Muscular Atrophy see spinal muscular atrophy Progressively deforming osteogenesis imperfecta with normal sclerae see osteogenesis imperfecta, type III PROMM see myotonic dystrophy, tipo 2 propionic acidemia propionyl-CoA carboxylase deficiency see propionic acidemia Protein C deficiency Protein S deficiency Protoporphyria see erythropoietic protoporphyria Protoporphyrinogen oxidase deficiency see variegate porphyria Proximal myotonic dystrophy see myotonic dystrophy, tipo 2 Proximal myotonic myopathy see myotonic dystrophy, tipo 2 pseudo-Gaucher disease pseudo-Ullrich-Turner syndrome see Noonan syndrome pseudoxanthoma elasticum psychosine lipidosis see Krabbe disease pulmonary arterial hypertension see primary pulmonary hypertension Pulmonary hypertension see primary pulmonary hypertension PWS see Prader-Willi syndrome PXE - Pseudoxanthoma elasticum see pseudoxanthoma elasticum R Disorder Mutation Chromosome Rb see retinoblastoma Recklinghausen disease, Nerve see neurofibromatosis 1 Recurrent polyserositis see Mediterranean fever, familial Retinal Disorders Retinitis pigmentosa-deafness syndrome see Usher syndrome retinoblastoma Rett syndrome RFALS type 3 see amyotrophic lateral sclerosis, tipo 2 Ricker syndrome see myotonic dystrophy, tipo 2 Riley-Day syndrome see familial dysautonomia Roussy-Levy syndrome see Charcot-Marie-Tooth disease RSTS see Rubinstein-Taybi syndrome RTS see Rett syndrome see Rubinstein-Taybi syndrome RTT see Rett syndrome Rubinstein-Taybi syndrome S Disorder Mutation Chromosome Sack-Barabas syndrome see Ehlers-Danlos syndrome, vascular type SADDAN Sarcoma family syndrome of Li and Fraumeni see Li-Fraumeni syndrome Sarcoma, breast, leukemia, and adrenal gland (SBLA) syndrome see Li-Fraumeni syndrome SBLA syndrome see Li-Fraumeni syndrome SBMA see spinal and bulbar muscular atrophy SCD see sickle cell anemia Schwannoma, Acoustic, Bilateral see neurofibromatosis 2 SCIDX1 see X-linked severe combined immunodeficiency sclerosis tuberosa see tuberous sclerosis SDAT see Alzheimer disease SED congenita see spondyloepiphyseal dysplasia congenita SED Strudwick see spondyloepimetaphyseal dysplasia, Strudwick type SEDc see spondyloepiphyseal dysplasia congenita SEMD, Strudwick type see spondyloepimetaphyseal dysplasia, Strudwick type Senile Dementia see Alzheimer disease, tipo 2 Severe achondroplasia with developmental delay and acanthosis nigricans see SADDAN sickle cell anemia Skeleton-skin-brain syndrome see SADDAN Skin Pigmentation Disorders SMA see spinal muscular atrophy SMED, Strudwick type see spondyloepimetaphyseal dysplasia, Strudwick type SMED, type I see spondyloepimetaphyseal dysplasia, Strudwick type South African genetic porphyria see variegate porphyria spastic paralysis, infantile onset ascending see infantile-onset ascending hereditary spastic paralysis Speech and Communication Disorders Sphingolipidosis, Tay-Sachs see Tay-Sachs disease spinal and bulbar muscular atrophy spinal muscular atrophy spinal muscular atrophy, distal type V see distal spinal muscular atrophy, type V spinal muscular atrophy, distal, with upper limb predominance see distal spinal muscular atrophy, type V Spinocerebellar ataxia spondyloepimetaphyseal dysplasia, Strudwick type spondyloepiphyseal dysplasia congenita Spondyloepiphyseal dysplasia see collagenopathy, types II and XI Spondylometaepiphyseal dysplasia congenita, Strudwick type see spondyloepimetaphyseal dysplasia, Strudwick type Spondylometaphyseal dysplasia (SMD) see spondyloepimetaphyseal dysplasia, Strudwick type Spondylometaphyseal Dysplasia, Strudwick Type see spondyloepimetaphyseal dysplasia, Strudwick type Spongy degeneration of central nervous system see Canavan disease Spongy degeneration of the brain see Canavan disease Spongy degeneration of white matter in infancy see Canavan disease sporadic primary pulmonary hypertension see primary pulmonary hypertension SSB syndrome see SADDAN Steely Hair syndrome see Menkes syndrome Steinert disease see myotonic dystrophy Steinert myotonic dystrophy syndrome see myotonic dystrophy Stickler syndrome Stroke see CADASIL Strudwick syndrome see spondyloepimetaphyseal dysplasia, Strudwick type Subacute Neuronopathic Gaucher disease see Gaucher disease, tipo 3 Swedish genetic porphyria see acute intermittent porphyria Swedish porphyria see acute intermittent porphyria Swiss cheese cartilage dysplasia see Kniest dysplasia T Disorder Mutation Chromosome Tay-Sachs disease TD - Thanatophoric dwarfism see thanatophoric dysplasia TD with straight femurs and cloverleaf skull see thanatophoric dysplasia, tipo 2 Telangiectasia, cerebello-oculocutaneous see ataxia-telangiectasia Testicular feminization syndrome see androgen insensitivity syndrome tetrahydrobiopterin deficiency TFM see androgen insensitivity syndrome thalassemia intermedia see beta thalassemia Thalassemia Major see beta thalassemia thanatophoric dysplasia Thrombophilia due to deficiency of cofactor for activated protein C, Leiden type see factor V Leiden thrombophilia Thyroid diseases tomaculous neuropathy see hereditary neuropathy with liability to pressure palsies Total HPRT deficiency see Lesch-Nyhan syndrome Total hypoxanthine-guanine phosphoribosyl transferase deficiency see Lesch-Nyhan syndrome Transmissible Dementias see prion disease Transmissible Spongiform Encephalopathies see prion disease Trias fragilitis ossium see osteogenesis imperfecta, type I triple X syndrome Triplo X syndrome see triple X syndrome Trisomy 21 see Down syndrome Trisomy X see triple X syndrome Troisier-Hanot-Chauffard syndrome see hemochromatosis TS see Turner syndrome TSD see Tay-Sachs disease TSEs see prion disease tuberose sclerosis see tuberous sclerosis tuberous sclerosis Turner syndrome Turner syndrome in female with X chromosome see Noonan syndrome Turner's phenotype, karyotype normal see Noonan syndrome Turner's syndrome see Turner syndrome Turner-like syndrome see Noonan syndrome Type 2 Gaucher disease see Gaucher disease, tipo 2 Type 3 Gaucher disease see Gaucher disease, tipo 3 U Disorder Mutation Chromosome UDP-Galactose-4-Epimerase Deficiency disease see galactosemia UDPglucose 4-Epimerase Deficiency disease see galactosemia UDPglucose Hexose-1-Phosphate Uridylyltransferase Deficiency see galactosemia Ullrich-Noonan syndrome see Noonan syndrome Ullrich-Turner syndrome see Turner syndrome Undifferentiated deafness see nonsyndromic deafness UPS deficiency see acute intermittent porphyria Urinary bladder cancer see bladder cancer UROD deficiency see porphyria cutanea tarda Uroporphyrinogen decarboxylase deficiency see porphyria cutanea tarda Uroporphyrinogen synthase deficiency see acute intermittent porphyria UROS deficiency see congenital erythropoietic porphyria Usher syndrome UTP Hexose-1-Phosphate Uridylyltransferase Deficiency see galactosemia V Disorder Mutation Chromosome Van Bogaert-Bertrand syndrome see Canavan disease Van der Hoeve syndrome see osteogenesis imperfecta, type I variegate porphyria VHL syndrome see von Hippel-Lindau disease Vision Impairment and Blindness see Alström syndrome Von Bogaert-Bertrand disease see Canavan disease von Hippel-Lindau disease Von Recklenhausen-Applebaum disease see hemochromatosis von Recklinghausen disease see neurofibromatosis 1 VP see variegate porphyria Vrolik disease see osteogenesis imperfecta W Disorder Mutation Chromosome Waardenburg syndrome WD - Wilson's disease see Wilson disease Weissenbacher-Zweymüller syndrome Wilson disease Wilson's disease see Wilson disease Wolff Periodic disease see Mediterranean fever, familial WZS see Weissenbacher-Zweymüller syndrome X Disorder Mutation Chromosome X-linked mental retardation and macroorchidism see fragile X syndrome X-linked primary hyperuricemia see Lesch-Nyhan syndrome X-linked severe combined immunodeficiency X-linked sideroblastic anemia X-linked spinal and bulbar muscular atrophy see spinal and bulbar muscular atrophy X-linked uric aciduria enzyme defect see Lesch-Nyhan syndrome X-SCID see X-linked severe combined immunodeficiency XLSA see X-linked sideroblastic anemia XSCID see X-linked severe combined immunodeficiency XXX syndrome see triple X syndrome XXY syndrome see Klinefelter syndrome XXY trisomy see Klinefelter syndrome XYY karyotype see 47,XYY syndrome XYY syndrome see 47,XYY syndrome Y Disorder Mutation Chromosome YY syndrome see 47,XYY syndrome Further conditions for inclusion] Albinism Amaurotic familial idiocy Porphyria Rh incompatibility Sickle cell disease ?over these Alopecia Anemia Color blindness Diabetes insipidus Hypopituitarism Picks disease This page uses Creative Commons Licensed content from Wikipedia (ver autores). Esta página utiliza contenido con licencia Creative Commons de Wikipedia (ver autores).

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