genetic_disease_bak

Midterm Takehome component
Below is a list of the genetic diseases we looked at on the [|Genetics Home Reference website]. Choose //no more than// three of the diseases, identify the genes and cytogenic locations from the website. Click on the 'Edit This Page' button, and enter your name, genes, and cytogenic locations on the appropriate row. **Do not change the check box**, I will do that in order to give you appropriate credit. If you change the 'No' to 'Yes' no credit will be given.

Once you have entered your information, click the 'Save' button on the editor toolbar. If it looks like your edits weren't saved, someone else may have the page open. Wait a few minutes and try again. If you still can't enter your information, wait for class, and we will go through it together.

TBX1 || 22q11.21-q11.23 22q11.21 || No || L2HGDH || 2q37.3 14q22.1 || No || DNAJC19 OPA3 TAZ || 9q22.31 3q26.33 19q13.32 Xq28 || No || SLC26A2 || 12q13.11-13.2 5q31-q34 || No || ddd ddd || ddd ddd ddd || No || PSEN1, PSEN2, APOE || 21q21, 14q24.3, 1q31-q42, 19q13.2 || No || SLC45AZ TYR TYRP1 MC1R || 15q11.2-q12 5p13.3 11q14-q21 9q23 16q24.3 || yes || Deletion Syndrome || TCOF1 COMT TBX1 || 5q32-q33.1 22q11.21-q11.23 22q11.21 || yes yes || COL4A4 COL4A5 || 2q36-q37 2q35-q37 Xq22 || yes || Christie || Costello syndrome || HRAS || 11p15.5 || No || Christie || Crohn disease || IL23R || 1p31.3 || No || 10q25.3 || 10q25.3-q26 || No || 7q31.31 || 7q31.2 || No || 17p13.2 || 17p13 || No || SAA1 || 16p13.3 11p15.1 || No || Quijije || hemophilia || F8, F9 || Xq28 Xq27.1-q27.2 || No || Quijije || hereditary hemorrhagic telangiectasia || ACVRL1, ENG, SMAD4 || 12q11-q14, 9q33-q34.1, 18q21.1 || No || Quijije || Huntington disease || HD || 4p16.3 || No || LDLR LDLRAP1 PCSK9 || 2p24-p23 19p13.3 1p36-p35 1p32.3 || No || PRODH || 1p36 22q11.21 || No || KCNQ1 || 21q22.1-q22.2 11p15.5 || No || Christie || Krabbe disease || GALC || 14q31.1 || No || RET || 11q13 10q11.2 || No || DMPK || 3q21 19q13.3 || No || NPCZ SMPD1 || 18q11-q12 16q24.3 11p15.4-p15.1 || No || Christie || Romano-Ward syndrome || ANK2 || 4q25-q25 || No || Christie || sickle cell disease ||  ||   || No || Marte || Smith-Lemli-Opitz syndrome || DHCR7 || 11q13.2-q13.5 || No || Marte || Sotos syndrome || NSD1 || 5q35.2-q35.3 || No || Marte || spinal muscular atrophy || SMN1 SMN2 VAPE || 5q13 5q13 20q13.33 || No || COL11A2, COL2A1 || 1p21, 6p21.3 12q13.11-q13.2 || No || HPD TAT || 15q23-q25 12q24-qter 16q22.1 || No || GPR98 ,MYO7A , PCDH15 ,USH1C, USH1G ,USH2A ||  10q21-q22,3q25, GPR98,11q13.5, 10q21.1,11p14.3, 17q25.2,1q41 || No ||  || ||   || || PRNP || 13q14.2-q21 20pter-p12 || No || CLRN1 GPR98 || 10q21-q22 3q25 5q13 || No || SETX SOD1 || 2q33.2 9q34.3 21q22.1 || No || SLC7A9 || 2p16.3 19q13.1 || No ||
 * ** Name ** || ** Disease ** || ** Genes ** || ** Cytogenic Location ** || ** check ** ||
 * Leanna Sanchez || familial acoustic neuromas || NF2 || 22q12.2 || No ||
 * Reinaldo Ruiz || 21-hydroxylase deficiency || CYP21A2 || 6p21.3 || No ||
 * Reinaldo Ruiz || 22q11.2 deletion Syndrome || COMT
 * Reinaldo Ruiz || 2-hydroxyglutaric aciduria || D2HGDH
 * || 2-methylbutyryl-coenzyme A dehydrogenase deficiency ||  ||   || No ||
 * Edwin Roman || 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency || HMGCL || 1p36.1-p35 || No ||
 * Edwin Roman || 3-hydroxyacyl-coenzyme A dehydrogenase deficiency || HADH || 4q22-q26 || No ||
 * Edwin Roman || 3-methylglutaconic aciduria || AUH
 * Christine Garcia || 47XYY Syndrome & triple X Syndrome ||  ||   || No ||
 * Ileana Mercado || abetalipoproteinemia || MTTP || 4q24 || No ||
 * Ileana Mercado || achondrogenesis || COL2A1
 * Ileana Mercado || achondroplasia || FGFR3 || 4p16.3 || No ||
 * || adenosine deaminase deficiency ||  ||   || No ||
 * Nina Perez || Alagille syndrome || JAG1 || 20p12.1-p11.23 || Yes ||
 * Nina Perez || Alagille syndrome || NOTCH2 || 1p13-p11 || Yes ||
 * Janny Diaz || Alexander disease || GFAP || 17q21 || No ||
 * Janny Diaz || alkaptonuria || HGD || 3q21-q23 || No ||
 * Janny Diaz || alpha-1 antitrypsin deficiency || SERPINA1 || 14q32.1 || No ||
 * || alpha-mannosidosis ||  ||   || No ||
 * ddd || Alport syndrome || ddd
 * Guy Cocchini || Alström syndrome || ALMS1 || 2p13 || Yes ||
 * M P || Alzheimer disease || APP,
 * || amelogenesis imperfecta ||  ||   || No ||
 * Shaelyn Caceres || Amish lethal microcephaly || SLC25A19 || 17q25.3 || No ||
 * Shaelyn Caceres || amyotrophic lateral sclerosis || ALS2,SETX,SODI,VAPB || Sq33.2 || No ||
 * || Andersen-Tawil syndrome ||  ||   || No ||
 * Angelina Santoro || Androgen insensitivity syndrome || AR || Xq11.2-q12 || Yes ||
 * || androgenetic alopecia ||  ||   || No ||
 * || Angelman syndrome ||  ||   || No ||
 * || ankylosing spondylitis ||  ||   || No ||
 * || Alpert syndrome ||  ||   || No ||
 * || arginase deficiency ||  ||   || No ||
 * || argininosuccinic aciduria ||  ||   || No ||
 * || ataxia-telangiectasia ||  ||   || No ||
 * || atelosteogenesis type 2 ||  ||   || No ||
 * || autoimmune polyglandular syndrome, type 1 ||  ||   || No ||
 * Miguel Ortega || Baller-Gerold syndrome || Recaql4 || 8q24.3 || No ||
 * || Beare-Stevenson cutis gyrata syndrome ||  ||   || No ||
 * Miguel Ortega || beta thalassemia || HBB || 11p15.5 || No ||
 * || beta-ketothiolase deficiency ||  ||   || No ||
 * || beta-mannosidosis ||  ||   || No ||
 * || biotinidase deficiency ||  ||   || No ||
 * || Birt-Hogg-Dubé syndrome ||  ||   || No ||
 * Nubia Moran || bladder cancer || FGFR3 || 4p1`6.3 || No ||
 * Jon Smith || Bloom's Syndrome || BLM || 15q26.1 || Yes ||
 * Jon Smith || Bloom's Syndrome || RECQ2 ||  || Yes ||
 * || branchiootorenal syndrome ||  ||   || No ||
 * Aralis Williams || Breast Cancer || ATM || 11q22.3 || Yes ||
 * Aralis Williams || Breast Cancer || BRCA1 || 17q21 || Yes ||
 * Aralis Williams || Breast Cancer || BRCA2 || 13q12.3 || Yes ||
 * || Brugada syndrome ||  ||   || No ||
 * Shaelyn Caceres || CADASIL || NOTCH3 || 19p13.2-p13.1 || No ||
 * Erica Martinez || Canavan disease || ASPA || 17pter-p13 || No ||
 * || carbamoyl phosphate synthetase I deficiency ||  ||   || No ||
 * || carnitine palmitoyltransferase I deficiency ||  ||   || No ||
 * || carnitine palmitoyltransferase II deficiency ||  ||   || No ||
 * || carnitine-acylcarnitine translocase deficiency ||  ||   || No ||
 * || central core disease ||  ||   || No ||
 * || cerebral cavernous malformation ||  ||   || No ||
 * || Cerebral sclerosis ||  ||   || No ||
 * || Charcot-Marie-Tooth disease ||  ||   || No ||
 * Miguel Ortega || Chediak-Higashi syndrome || LYST || 1q42.1-q42.2 || No ||
 * || cherubism ||  ||   || No ||
 * || cholesteryl ester storage disease ||  ||   || No ||
 * Aralis Williams || citrullinemia || SLC25A13 || 7q21.3 || Yes ||
 * Aralis Williams || citrullinemia || ASSI || 9q34.1 || Yes ||
 * || cleidocranial dysplasia ||  ||   || No ||
 * || Cockayne syndrome ||  ||   || No ||
 * Yshua Marquez || Coffin-Lowry syndrome || RPS6KA3 || Xp22.2- p.22.1 || No ||
 * Kathleen Ferguson || Cohen syndrome || VPS13B || 8q22.2 || No ||
 * Wanda Perez || Color vision deficiency || GNAT2 || 1p13.1 || Yes ||
 * Wanda Perez || Color vision deficiency || OPN1LW || Xq28 || Yes ||
 * Wanda Perez || Color vision deficiency || CNGB3 || 8q21-q22 || Yes ||
 * || color vision deficiency ||  ||   || No ||
 * || congenital bilateral absence of the vas deferens ||  ||   || No ||
 * || congenital contractural arachnodactyly ||  ||   || No ||
 * Lene Duncan || oculacutaneous albinism || OCA2
 * Lene Duncan || Treacher Collins Syndrome
 * Lene Duncan || Alport Syndrome || COL4A3
 * Raymond
 * Yshua Marquez || Cowden syndrome || PTEN || 10q23.3 || No ||
 * Yshua Marquez || cri-du-chat syndrome || CTNND2 || 5p15.2 || No ||
 * Raymond
 * REYNALDO RIOS || Crouzon syndrome || FGFR2
 * || Crouzonodermoskeletal syndrome ||  ||   || No ||
 * REYNALDO RIOS || Cystic Fibrosis || CFTR
 * REYNALDO RIOS || cystinosis || CTNS
 * || cystinuria ||  ||   || No ||
 * || dentinogenesis imperfecta ||  ||   || No ||
 * || diastrophic dysplasia ||  ||   || No ||
 * || distal hereditary motor neuropathy, type V ||  ||   || No ||
 * || Duane-radial ray syndrome ||  ||   || No ||
 * || Duchenne and Becker muscular dystrophy ||  ||   || No ||
 * || dystrophic epidermolysis bullosa ||  ||   || No ||
 * Stacy williamson || early-onset glaucoma ||  ||   || No ||
 * || Ehlers-Danlos syndrome ||  ||   || No ||
 * || Ellis-van Creveld syndrome ||  ||   || No ||
 * || Emery-Dreifuss muscular dystrophy ||  ||   || No ||
 * || epidermolysis bullosa simplex ||  ||   || No ||
 * || essential tremor ||  ||   || No ||
 * || ethylmalonic encephalopathy ||  ||   || No ||
 * Annie Stephens || Fabry disease || GLA || Xq22 || No ||
 * || factor V Leiden thrombophilia ||  ||   || No ||
 * || familial adenomatous polyposis ||  ||   || No ||
 * || familial atrial fibrillation ||  ||   || No ||
 * || familial dysautonomia ||  ||   || No ||
 * || familial encephalopathy with neuroserpin inclusion bodies ||  ||   || No ||
 * || familial lipoprotein lipase deficiency ||  ||   || No ||
 * Annie Stephens || familial Mediterranean fever || MEFV
 * || Farber lipogranulomatosis ||  ||   || No ||
 * || fibrodysplasia ossificans progressiva ||  ||   || No ||
 * Christine Garcia || fragile X syndrome ||  ||   || No ||
 * Annie Stephens || Friedreich ataxia || FXN || 9q13-q21.1 || No ||
 * || frontometaphyseal dysplasia ||  ||   || No ||
 * || galactosemia ||  ||   || No ||
 * Kathleen Ferguson || Gaucher disease || GBA || 1q21 || No ||
 * || giant axonal neuropathy ||  ||   || No ||
 * || glucose-6-phosphate dehydrogenase deficiency ||  ||   || No ||
 * || Glucose-galactose malabsorption ||  ||   || No ||
 * || GLUT1 deficiency syndrome ||  ||   || No ||
 * || glutaric acidemia type I ||  ||   || No ||
 * || glutaric acidemia type II ||  ||   || No ||
 * || glutathione synthetase deficiency ||  ||   || No ||
 * || glycine encephalopathy ||  ||   || No ||
 * || GM2-gangliosidosis, AB variant ||  ||   || No ||
 * || Greig cephalopolysyndactyly syndrome ||  ||   || No ||
 * || guanidinoacetate methyltransferase deficiency ||  ||   || No ||
 * || Harlequin ichthyosis ||  ||   || No ||
 * || hemochromatosis ||  ||   || No ||
 * Narcisita
 * Narcisita
 * || hereditary multiple exostoses ||  ||   || No ||
 * || hereditary neuropathy with liability to pressure palsies ||  ||   || No ||
 * || hereditary nonpolyposis colorectal cancer ||  ||   || No ||
 * || holocarboxylase synthetase deficiency ||  ||   || No ||
 * || Holt-Oram syndrome ||  ||   || No ||
 * || homocystinuria ||  ||   || No ||
 * Narcisita
 * || Hutchinson-Gilford progeria syndrome ||  ||   || No ||
 * LATISHA BALLARD || hypercholesterolemia || APOB
 * || hyperkalemic periodic paralysis ||  ||   || No ||
 * || hypermethioninemia ||  ||   || No ||
 * LATISHA BALLARD || hyperprolinemia || ALDH4A1
 * || hypochondrogenesis ||  ||   || No ||
 * LATISHA BALLARD || hypochondroplasia || FGFR3 || 4p16.3 || No ||
 * Anthony M || hypohidrotic ectodermal dysplasia ||  ||   || No ||
 * Anthony M || hypokalemic periodic paralysis ||  ||   || No ||
 * Anthony M || hypophosphatasia ||  ||   || No ||
 * || incontinentia pigmenti ||  ||   || No ||
 * || Infantile neuroaxonal dystrophy ||  ||   || No ||
 * || infantile-onset ascending hereditary spastic paralysis ||  ||   || No ||
 * || isobutyryl-coenzyme A dehydrogenase deficiency ||  ||   || No ||
 * || isovaleric acidemia ||  ||   || No ||
 * Adolfo Colon || Jackson-Weiss syndrome || FGFR2 || 10q27.3-q26 || No ||
 * Adolfo Colon || Jervell and Lange-Nielsen syndrome || KCNE1
 * Adolfo Colon || Job syndrome || STAT3 || 17q21.31 || No ||
 * || juvenile primary lateral sclerosis ||  ||   || No ||
 * || Klinefelter Syndrome ||  ||   || No ||
 * || Kniest dysplasia ||  ||   || No ||
 * Raymond
 * || Lesch-Nyhan syndrome ||  ||   || No ||
 * || leukoencephalopathy with vanishing white matter ||  ||   || No ||
 * || Li-Fraumeni Syndrome ||  ||   || No ||
 * || long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency ||  ||   || No ||
 * || lymphedema-distichiasis syndrome ||  ||   || No ||
 * Kennia Fernandez || malignant hyperthermia || CACNA1S AND RYR1 || 1q32 and 19q13.1 || No ||
 * || malonyl-coenzyme A decarboxylase deficiency ||  ||   || No ||
 * Stacy Williamson || maple syrup urine disease ||  ||   || No ||
 * Nelsy Henriquez || Marfan syndrome || TGFBR2 || 3p22 || Yes ||
 * Nelsy Henriquez || Marfan syndrome || FBN12 || 15q21.1 || Yes ||
 * || medium-chain acyl-coenzyme A dehydrogenase deficiency ||  ||   || No ||
 * || Melnick-Needles syndrome ||  ||   || No ||
 * || Menkes syndrome ||  ||   || No ||
 * || Metachromatic leukodystrophy ||  ||   || No ||
 * || methemoglobinemia, beta-globin type ||  ||   || No ||
 * || methylmalonic acidemia ||  ||   || No ||
 * || mitochondrial trifunctional protein deficiency ||  ||   || No ||
 * || Mowat-Wilson syndrome ||  ||   || No ||
 * || Muenke syndrome ||  ||   || No ||
 * || multiminicore disease ||  ||   || No ||
 * Roberto De Jesus || multiple endocrine neoplasia || MET1
 * Roberto De Jesus || myotonia congenita || CLCN1 || 7q32-qter || No ||
 * Roberto De Jesus || myotonic dystrophy || CNBP
 * || N-acetylglutamate synthase deficiency ||  ||   || No ||
 * || neurofibromatosis type 1 ||  ||   || No ||
 * || Neurofibromatosis type 2 ||  ||   || No ||
 * Kathleen Ferguson || Niemann-Pick disease || NPC1
 * Angela Lopez || Nonsyndromic Deafness || CLDN14 || 21q22.3 || Yes ||
 * Angela Lopez || Nonsyndromic Deafness || ACTG1 || 17q25 || Yes ||
 * Angela Lopez || Nonsyndromic Deafness || CDH23 || 10q21-q22 || Yes ||
 * || Noonan syndrome ||  ||   || No ||
 * || Norrie disease ||  ||   || No ||
 * || ocular albinism ||  ||   || No ||
 * || oculocutaneous albinism ||  ||   || No ||
 * || Opitz G/BBB syndrome ||  ||   || No ||
 * || ornithine transcarbamylase deficiency ||  ||   || No ||
 * || ornithine translocase deficiency ||  ||   || No ||
 * || Osteogenesis Imperfecta ||  ||   || No ||
 * || otopalatodigital syndrome type 1 ||  ||   || No ||
 * || otopalatodigital syndrome type 2 ||  ||   || No ||
 * || otospondylomegaepiphyseal dysplasia ||  ||   || No ||
 * || Pallister-Hall syndrome ||  ||   || No ||
 * || pantothenate kinase-associated neurodegeneration ||  ||   || No ||
 * || paramyotonia congenita ||  ||   || No ||
 * jaipaul dhanpaul || Parkinson disease || PARK2 || 6q 25.2 - q27 || No ||
 * || paroxysmal nocturnal hemoglobinuria ||  ||   || No ||
 * || Pendred syndrome ||  ||   || No ||
 * || periventricular heterotopia ||  ||   || No ||
 * || Peutz-Jeghers syndrome ||  ||   || No ||
 * || Pfeiffer syndrome ||  ||   || No ||
 * || phenylketonuria ||  ||   || No ||
 * || platyspondylic lethal skeletal dysplasia, Torrance type ||  ||   || No ||
 * || polycystic kidney disease ||  ||   || No ||
 * Nubia Moran || Pompe disease || GAA || 17q25.2-925.3 || No ||
 * Nubia Moran || porphyria || ALAD || 9q34 || No ||
 * || potassium-aggravated myotonia ||  ||   || No ||
 * || Prader-Willi syndrome ||  ||   || No ||
 * || primary carnitine deficiency ||  ||   || No ||
 * || primary hyperoxaluria ||  ||   || No ||
 * Kennia Fernandez || prion disease || PRNP || 20pter-p2 || No ||
 * || propionic acidemia ||  ||   || No ||
 * || pseudoxanthoma elasticum ||  ||   || No ||
 * || Pulmonary arterial hypertension ||  ||   || No ||
 * || pyruvate carboxylase deficiency ||  ||   || No ||
 * || recessive multiple epiphyseal dysplasia ||  ||   || No ||
 * || retinoblastoma ||  ||   || No ||
 * || Rett Syndrome || MECP2 || Xq28 || Yes ||
 * || Rett Syndrome || CDKL5 || ?p22 || Yes ||
 * Raymond
 * || Rothmund-Thomson Syndrome ||  ||   || No ||
 * || Rubinstein-Taybi syndrome ||  ||   || No ||
 * || Rubinstei-Taybi Syndrome ||  ||   || No ||
 * || SADDAN ||  ||   || No ||
 * || Saethre-Chotzen syndrome ||  ||   || No ||
 * || Sandhoff disease ||  ||   || No ||
 * || short QT syndrome ||  ||   || No ||
 * || short-chain acyl-coenzyme A dehydrogenase deficiency ||  ||   || No ||
 * || Shwachman-Diamond syndrome ||  ||   || No ||
 * || sialic acid storage disease ||  ||   || No ||
 * Raymond
 * || Simpson-Golabi-Behmel syndrome ||  ||   || No ||
 * Veronica
 * || Smith-Magenis syndrome ||  ||   || No ||
 * Veronica
 * || spastic paraplegia 3A ||  ||   || No ||
 * || spastic paraplegia 4 ||  ||   || No ||
 * || spastic paraplegia 7 ||  ||   || No ||
 * || spinal and bulbar muscular atrophy ||  ||   || No ||
 * Veronica
 * || Spinal Muscular Atrophy ||  ||   || No ||
 * || spondyloepimetaphyseal dysplasia, Strudwick type ||  ||   || No ||
 * || spondyloepiphyseal dysplasia congenita ||  ||   || No ||
 * || spondyloperipheral dysplasia ||  ||   || No ||
 * Mario Pagan || Stickler syndrome || COL11A1,
 * Mario Pagan || Tangier disease || ABCA1 || 9q31.1 || No ||
 * Mario Pagan || Tay-Sachs disease || GM2A || 5q31.3-933.1 || No ||
 * || tetra-amelia syndrome ||  ||   || No ||
 * || tetrahydrobiopterin deficiency ||  ||   || No ||
 * || thanatophoric dysplasia ||  ||   || No ||
 * || thrombotic thrombocytopenic purpura ||  ||   || No ||
 * || Timothy syndrome ||  ||   || No ||
 * || Tourette syndrome ||  ||   || No ||
 * || Townes-Brocks Syndrome ||  ||   || No ||
 * jaipaul dhanpaul || Treacher Collins syndrome || TCOF1 || 5q32-q33.1 || No ||
 * || trimethylaminuria ||  ||   || No ||
 * || Troyer syndrome ||  ||   || No ||
 * Jaipaul Dhanpaul || tuberous sclerosis || TSC1 || 9q34 || No ||
 * M P || Turner Syndrome || SHOX || Xpter-p22.32 and Yp11.3 || No ||
 * Erica Martinez || tyrosinemia || FAH
 * Stacy Williamson || Tyrosinemia Syndrome ||  ||   || No ||
 * M P || Usher syndrome || CDH23, CLRN1 ,
 * || very long-chain acyl-coenzyme A dehydrogenase deficiency ||  ||   || No ||
 * || vitelliform macular dystrophy ||  ||   || No ||
 * || von Hippel-Lindau syndrome ||  ||   || No ||
 * || Waardenburg syndrome ||  ||   || No ||
 * || Weissenbacher-Zweymüller syndrome ||  ||   || No ||
 * || Werner syndrome ||  ||   || No ||
 * || Williams Syndrome ||  ||   || No ||
 * Erica Martinez || Wilson disease || ATP7B
 * || Wolff-Parkinson-White syndrome ||  ||   || No ||
 * Kennia Fernandez || Wolman disease || LIPA || 10q23.2-q23.3 || No ||
 * || X-linked adrenal hypoplasia congenita ||  ||   || No ||
 * || X-linked adrenoleukodystrophy ||  ||   || No ||
 * || X-linked severe combined immunodeficiency ||  ||   || No ||
 * Maribel Munoz || X-Linked sideroblastic anemia || HFE || 6p21.3 || Yes ||
 * Maribel Munoz || X-Linked sideroblastic anemia || ALAS2 || Xp11.21 || Yes ||
 * Naika Rodriguez || Usher syndrome || CDH23
 * Naika Rodriguez || Amyotrophic lateral sclerosis 2 || ALS2
 * Naika Rodriguez || Cystinuria 3 || SLC3A1