Last 12 months - Genetics Home Reference [ACTUALIZACIÓN MÉDICO-CONTINUADA EN GENÉTICA APLICADA || NUEVO CAPÍTULO MÉDICO 2016]

Last 12 months - Genetics Home Reference

February 22, 2016 Condition: Ollier disease February 15, 2016 Condition: cone-rod dystrophy Gene: CRX: cone-rod homeobox February 8, 2016 Condition: methylmalonic acidemia with homocystinuria Gene: ABCD4: ATP binding cassette subfamily D member 4 Gene: HCFC1: host cell factor C1 Gene: LMBRD1: LMBR1 domain containing 1 Gene: MMACHC: methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria February 1, 2016 Gene: SLC52A2: solute carrier family 52 (riboflavin transporter), member 2 January 25, 2016 Condition: heterotaxy syndrome January 18, 2016 Condition: ALG1-congenital disorder of glycosylation Gene: ALG1: ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase Gene: CAV1: caveolin 1 Gene: PTRF: polymerase I and transcript release factor December 28, 2015 Condition: allergic asthma Condition: clopidogrel resistance Gene: CYP2C19: cytochrome P450 family 2 subfamily C member 19 December 21, 2015 Condition: Tietz syndrome December 14, 2015 Condition: Nicolaides-Baraitser syndrome Gene: HOGA1: 4-hydroxy-2-oxoglutarate aldolase 1 Gene: SMARCA2: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 December 7, 2015 Condition: 3MC syndrome Condition: complement component 8 deficiency Condition: DOORS syndrome Condition: hepatic lipase deficiency Condition: hereditary xanthinuria Gene: C8A: complement component 8, alpha polypeptide Gene: C8B: complement component 8, beta polypeptide Gene: COLEC11: collectin subfamily member 11 Gene: LIPC: lipase C, hepatic type Gene: MASP1: mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) Gene: MOCOS: molybdenum cofactor sulfurase Gene: TBC1D24: TBC1 domain family member 24 Gene: XDH: xanthine dehydrogenase November 18, 2015 Is hair texture determined by genetics? Condition: keratoderma with woolly hair Gene: DLL4: delta-like 4 (Drosophila) Gene: DSC2: desmocollin 2 Gene: DSP: desmoplakin Gene: JUP: junction plakoglobin Gene: KANK2: KN motif and ankyrin repeat domains 2 November 9, 2015 Condition: 5q minus syndrome Condition: CHOPS syndrome Condition: deafness and myopia syndrome Gene: AFF4: AF4/FMR2 family member 4 Gene: MIR145: microRNA 145 Gene: MIR146A: microRNA 146a Gene: RPS14: ribosomal protein S14 Gene: SLITRK6: SLIT and NTRK like family member 6 October 19, 2015 Condition: atopic dermatitis Condition: autosomal recessive hyper-IgE syndrome Condition: collagen VI-related myopathy Gene: DOCK8: dedicator of cytokinesis 8 Gene: FLG: filaggrin October 12, 2015 Condition: dopamine transporter deficiency syndrome Gene: SLC6A3: solute carrier family 6 (neurotransmitter transporter), member 3 October 5, 2015 Condition: lung cancer Condition: ovarian cancer Gene: EGFR: epidermal growth factor receptor September 20, 2015 Condition: Glanzmann thrombasthenia Gene: ITGA2B: integrin subunit alpha 2b Gene: ITGB3: integrin subunit beta 3 September 14, 2015 Is the probability of having twins determined by genetics? Gene: DVL1: dishevelled segment polarity protein 1 Gene: HDAC8: histone deacetylase 8 Gene: RAD21: RAD21 cohesin complex component Gene: WNT5A: wingless-type MMTV integration site family member 5A September 7, 2015 Condition: factor XIII deficiency Condition: retinal arterial macroaneurysm with supravalvular pulmonic stenosis (often shortened to RAMSVPS) Gene: F13A1: coagulation factor XIII A chain Gene: F13B: coagulation factor XIII B chain Gene: IGFBP7: insulin like growth factor binding protein 7 July 27, 2015 Condition: Stevens-Johnson syndrome/toxic epidermal necrolysis July 19, 2015 Condition: ADCY5-related dyskinesia Condition: warfarin resistance Gene: ADCY5: adenylate cyclase 5 July 13, 2015 Is handedness determined by genetics? What is newborn screening? How is newborn screening done? What disorders are included in newborn screening? Who pays for newborn screening? What happens if a newborn screening test comes back negative? What happens if a newborn screening test comes back positive? July 6, 2015 Condition: Sheldon-Hall syndrome Gene: TNNI2: troponin I type 2 (skeletal, fast) Gene: TNNT3: troponin T type 3 (skeletal, fast) June 15, 2015 Condition: MyD88 deficiency Condition: warfarin sensitivity Condition: X-linked intellectual disability, Siderius type Gene: CYP2C9: cytochrome P450 family 2 subfamily C member 9 Gene: PHF8: PHD finger protein 8 Gene: VKORC1: vitamin K epoxide reductase complex subunit 1 June 1, 2015 Condition: autosomal recessive congenital methemoglobinemia Condition: multiple mitochondrial dysfunctions syndrome Gene: BOLA3: bolA family member 3 Gene: CYB5R3: cytochrome b5 reductase 3 Gene: DYNC2H1: dynein, cytoplasmic 2, heavy chain 1 Gene: NFU1: NFU1 iron-sulfur cluster scaffold May 25, 2015 Condition: chronic atrial and intestinal dysrhythmia Gene: SGOL1: shugoshin-like 1 (S. pombe) May 18, 2015 Are fingerprints determined by genetics? Is eye color determined by genetics? Is intelligence determined by genetics? Condition: Erdheim-Chester disease Gene: MEOX1: mesenchyme homeobox 1 May 11, 2015 Condition: primary macronodular adrenal hyperplasia(often shortened to PMAH) Gene: ARMC5: armadillo repeat containing 5 May 4, 2015 Gene: FAM83H: family with sequence similarity 83 member H April 28, 2015 What is precision medicine? What is the difference between precision medicine and personalized medicine? What about pharmacogenomics? What is the Precision Medicine Initiative? What are some potential benefits of precision medicine and the Precision Medicine Initiative? What are some of the challenges facing precision medicine and the Precision Medicine Initiative? Condition: adermatoglyphia Condition: congenital bile acid synthesis defect type 1 Condition: congenital bile acid synthesis defect type 2 Condition: congenital mirror movement disorder Condition: progressive familial heart block Condition: prostate cancer Gene: AKR1D1: aldo-keto reductase family 1, member D1 Gene: DCC: DCC netrin 1 receptor Gene: HOXB13: homeobox B13 Gene: HSD3B7: hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 Gene: SMARCAD1: SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 Gene: TRPM4: transient receptor potential cation channel subfamily M member 4 April 20, 2015 Condition: spastic paraplegia type 31 Gene: REEP1: receptor accessory protein 1 April 13, 2015 Condition: globozoospermia Condition: Laron syndrome Condition: moyamoya disease Gene: DPY19L2: dpy-19 like 2 (C. elegans) Gene: GHR: growth hormone receptor Gene: RNF213: ring finger protein 213 April 6, 2015 Condition: fibronectin glomerulopathy Condition: thiopurine S-methyltransferase deficiency Gene: FN1: fibronectin 1 Gene: TPMT: thiopurine S-methyltransferase March 30, 2015 Condition: Waldenström macroglobulinemia Gene: CXCR4: chemokine (C-X-C motif) receptor 4 Gene: MYD88: myeloid differentiation primary response 88 March 23, 2015 Condition: pulmonary veno-occlusive disease Gene: EIF2AK4: eukaryotic translation initiation factor 2 alpha kinase 4 March 16, 2015 Condition: isolated ectopia lentis Gene: ADAMTSL4: ADAMTS like 4 Gene: HEPACAM: hepatic and glial cell adhesion molecule Gene: MAP3K1: mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase Gene: TRIP11: thyroid hormone receptor interactor 11 March 10, 2015 Condition: Bowen-Conradi syndrome Gene: EMG1: EMG1 N1-specific pseudouridine methyltransferase March 2, 2015 Condition: Hajdu-Cheney syndrome