BabyNEXT TM EXTENDED. Geni investigati e patologie associate. Gene Disease OMIM gene Familial hyperinsulinism ABCC8-related

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1 Geni investigati e patologie associate BabyNEXT TM EXTENDED Gene Disease OMIM gene ABCC8 Familial hyperinsulinism ABCC8-related OMIM Disease Condition Metabolic disorder - ABCD1 Adrenoleukodystrophy Miscellaneous multisystem diseases ABCD4 ACAD8 ACAD9 ACADM ACADS Methylmalonic aciduria and homocystinuria, cblj type Isobutyryl-CoA dehydrogenase acyl-coa dehydrogenase-9 (ACAD9) Acyl-CoA dehydrogenase, medium chain, of Acyl-CoA dehydrogenase, short-chain, of Metabolic disorder Metabolic Disorder Metabolic Disorder - fatty acid Metabolic Disorder - fatty acid Metabolic Disorder - fatty acid ACADSB 2-methylbutyrylglycinuria Metabolic Disorder - ACADVL ACAT1 ACSF3 very long-chain acyl-coa dehydrogenase Alpha-methylacetoacetic aciduria Combined malonic and methylmalonic aciduria Metabolic Disorder - fatty acid Metabolic Disorder Metabolic Disorder - * ** 1

2 ADA ADK AGL Severe combined immuno due to ADA Hypermethioninemia due to adenosine kinase Glycogen storage disease, type III Primary Metabolic Disorder Other Disorders AGXT Primary hyperoxaluria, type AHCY Hypermethioninemia with of S- adenosylhomocysteine hydrolase Metabolic Disorder - AK2 Reticular dysgenesis Primary AKR1D1 Bile acid synthesis defect, congenital, ALDH4A1 Hyperprolinemia, type II Metabolic disorder - ALDH7A1 ALDOB Epilepsy, pyridoxinedependent Fructose intolerance, hereditary ALPL Hypophosphatasia Neurotransmitter Disorders Metabolic Disorder - ANK1 Spherocytosis, type AQP2 Diabetes insipidus, nephrogenic

3 ARG1 Argininemia Metabolic Disorder - ARSA Metachromatic leukodystrophy Lysosomal Storage ARSB Mucopolysaccharidosis type VI (Maroteaux-Lamy) Lysosomal Storage ASL Argininosuccinic aciduria Metabolic Disorder - ASS1 Citrullinemia Type Metabolic Disorder - AUH AVPR2 BCKDHA BCKDHB 3-methylglutaconic aciduria, type I Nephrogenic syndrome of inappropriate antidiuresis / Nephrogenic diabetes insipidus AVPR2-related Maple syrup urine disease, type Ia Maple syrup urine disease, type Ib Metabolic Disorder Metabolic Disorder Metabolic Disorder - BTD Biotinidase Miscellaneous multisystem diseases BTK Agammaglobulinemia, X- linked 1 CASR Neonatal hyperparathyroidism / Autosomal dominant hypocalcemia Primary Endocrine Disorder 3

4 CBS Homocystinuria, B6- responsive and nonresponsive types Metabolic Disorder - CD247 Immuno Primary CD320 Methylmalonic aciduria, transient, due to transcobalamin receptor defect Metabolic Disorder - CD3D Immuno Primary CD3E Immuno Primary CFTR Cystic fibrosis Miscellaneous multisystem diseases COL4A3 Alport syndrome COL4A related COL4A4 Alport syndrome, autosomal recessive COL4A5 Alport syndrome CPS1 CPT1A CPT2 Carbamoylphosphate synthetase I Carnitine palmitoyltransferase type I Carnitine palmitoyltransferase type II Metabolic Disorder Metabolic Disorder - fatty acid Metabolic Disorder - fatty acid CTH Cystathioninuria Metabolic Disorder - 4

5 CTNS Cystinosis Lysosomal Storage CYBA CYBB CYP11B1 CYP11B2 Chronic granulomatous disease, autosomal, due to of CYBA Chronic granulomatous disease CYBB-related Congenital adrenal hyperplasia due to 11-betahydroxylase Corticosterone methyloxidase Endocrine Disorder CYP21A2 CYP27A1 Adrenal hyperplasia, congenital, due to 21- hydroxylase Cerebrotendinous xanthomatosis Endocrine Disorder Other Disorders DBT DCLRE1C DECR1 DLD Maple syrup urine disease, type II Omenn syndrome / Severe combined immuno, Athabaskan-type 2,4-dienoyl-CoA reductase Dihydrolipoamide dehydrogenase Metabolic Disorder Primary Metabolic Disorder - fatty acid Metabolic Disorder - Organic Acidemias DNAJC19 DUOX2 Hyperphenylalaninemia, mild, non-bh4-deficient Thyroid dyshormonogenesis Metabolic Disorder Endocrine Disorder 5

6 DUOXA2 Thyroid dyshormonogenesis Endocrine Disorder EPB42 Spherocytosis, type ETFA Glutaric acidemia IIA Metabolic Disorder - fatty acid ETFB Glutaric acidemia IIB Metabolic Disorder - fatty acid ETFDH Glutaric acidemia IIC Metabolic Disorder - fatty acid ETHE1 Ethylmalonic encephalopathy Metabolic Disorder - Organic Acidemias F9 Factor IX FAH Tyrosinemia, type I Metabolic Disorder - FBN1 Marfan syndrome and other FBN1-related disorders FBP1 Fructose-1,6- bisphosphatase Metabolic Disorder - Organic Acidemias FOLR1 FTCD G6PC G6PD Neurodegeneration due to cerebral folate transport Glutamate formiminotransferase Glycogen storage disease, type Ia Hemolytic anemia, G6PD deficient (favism) Other Disorders Metabolic Disorder - Organic Acidemias Metabolic Disorder Miscellaneous multisystem diseases 6

7 GAA Glycogen storage disease II - Pompe disease Lysosomal Storage GALC Krabbe disease Lysosomal Storage GALE GALK1 Galactose epimerase Galactokinase with cataracts Miscellaneous multisystem diseases Miscellaneous multisystem diseases GALNS Mucopolysaccharidosis IVA Lysosomal Storage GALT Galactosemia Miscellaneous multisystem diseases GAMT Cerebral creatine syndrome 2 GATM Cerebral creatine syndrome GBA Gaucher disease, type I Lysosomal Storage GCDH Glutaricaciduria, type I Metabolic Disorder - GCH1 GJB2 GJB3 GJB6 Hyperphenylalaninemia, BH4-deficient, B Deafness, autosomal recessive 1A Deafness, digenic, GJB2/GJB3 Deafness, digenic GJB2/GJB Metabolic Disorder Deafness Deafness Deafness GLA Fabry disease Lysosomal Storage GLIS3 Diabetes mellitus, neonatal, with congenital hypothyroidism Endocrine Disorder 7

8 GLUD1 GNAS GNAS GNAS congenital hyperinsulinic hyperammonemia (HI/HA) syndrome Pseudohypoparathyroidism Ia Pseudohypoparathyroidism Ib Pseudohypoparathyroidism Ic Endocrine Disorders Endocrine Disorders Endocrine Disorders Endocrine Disorders GNAS Pseudopseudohypoparathyr oidism Endocrine Disorders GNMT Glycine N- methyltransferase GRHPR GSS Hyperoxaluria, primary, type II Glutathione synthetase - 5-oxoprolinuria GYS2 Glycogen storage disease 0, liver HADH HADHA HADHA HADHB Short-chain hydroxyacylcoenzyme A dehydrogenase long-chain hydroxyacyl-coa dehydrogenase Trifunctional protein Trifunctional protein Metabolic Disorder Metabolic Disorder Metabolic Disorder Metabolic Disorder Metabolic Disorder - fatty acid Metabolic Disorder - fatty acid Metabolic Disorder - fatty acid Metabolic Disorder - fatty acid 8

9 HAL Histidinemia Metabolic Disorder - HAX1 Neutropenia, severe congenital 3, autosomal recessive HBA1 Thalassemia, alpha Hemoglobinopathies HBA2 Thalassemia, alpha Hemoglobinopathies HBB Sickle cell anemia Hemoglobinopathies HBB Thalassemias, beta Hemoglobinopathies HGD Alkaptonuria Metabolic Disorder - HLCS Holocarboxylase synthetase Metabolic Disorder - HMGCL HMG-CoA lyase Metabolic Disorder - HMGCS2 HOGA1 HMG-CoA synthase-2 Hyperoxaluria, primary, type III Metabolic Disorder - fatty acid HPD Tyrosinemia, type III Metabolic Disorder - HSD17B10 HSD3B2 17-beta-hydroxysteroid dehydrogenase X (HSD10) Adrenal hyperplasia, congenital, due to 3-betahydroxysteroid dehydrogenase Metabolic Disorder - Organic Acidemias Endocrine Disorder 9

10 HSD3B7 Bile acid synthesis defect, congenital, IDS Mucopolysaccharidosis II Lysosomal Storage IDUA IL2RG IL7R INS Mucopolysaccharidosis type Ih Severe combined immuno, X-linked Severe combined immuno, T-cell negative, B-cell/natural killer cell-positive type Diabetes mellitus, permanent neonatal Lysosomal Storage Primary Primary Endocrine Disorder IVD Isovaleric acidemia Metabolic Disorder - IYD Thyroid dyshormonogenesis Endocrine Disorder 5 JAG1 Alagille syndrome 1 / Tetralogy of Fallot Endocrine Disorder JAK3 Severe combined immuno Primary KCNJ11 Familial hyperinsulinism Endocrine Disorder KCNQ2 LDLR LHX3 Early Infantile epileptic encephalopathy 7 / Benign neonatal seizures 2 Familial hypercholesterolemia Combined pituitary hormone Other Disorders Endocrine Disorder Endocrine Disorder 10

11 LIG4 LIG4 syndrome Primary LIPA Wolman disease / Cholesteryl ester storage disease LMBRD1 Methylmalonic aciduria and homocystinuria, cblf type LPL Lipoprotein lipase Lysosomal Storage Metabolic Disorder - MAT1A MCCC1 MCCC2 MCEE Hypermethioninemia, due to methionine adenosyltransferase I/III 3-Methylcrotonyl-CoA carboxylase 1 3-Methylcrotonyl-CoA carboxylase 2 Methylmalonyl-CoA epimerase Metabolic Disorder Metabolic Disorder Metabolic Disorder Metabolic Disorder - Organic Acidemias MLYCD MMAA MMAB MMACHC Malonyl-CoA decarboxylase Methylmalonic aciduria, vitamin B12-responsive Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblb complementation type Methylmalonic aciduria and homocystinuria, cblc type Metabolic Disorder Metabolic Disorder Metabolic Disorder Metabolic Disorder - 11

12 MMADHC MPI Methylmalonic aciduria and homocystinuria, cbld type Congenital disorder of glycosylation, type Ib Metabolic Disorder MPL Congenital amegakaryocytic thrombocytopenia MTHFR MTR MTRR Homocystinuria due to MTHFR Homocystinuriamegaloblastic anemia, cobalamin G type Homocystinuria, cobalamin E type MTTP Abetalipoproteinemia Metabolic Disorder Metabolic Disorder Metabolic Disorder - MUT Methylmalonic aciduria, mut(0) type Metabolic Disorder - MVK Mevalonic aciduria Metabolic Disorder - NADK2 NAGS NHEJ1 2,4-dienoyl-CoA reductase N-acetylglutamate synthase Severe combined immuno with microcephaly, growth retardation, and sensitivity to ionizing radiation Metabolic Disorder - fatty acid Metabolic Disorder Primary 12

13 NKX2-1 NKX2-5 NPC1 NPC2 Choreoathetosis, hypothyroidism, and neonatal respiratory distress Hypothyroidism, congenital nongoitrous, 5 Niemann-Pick disease, type C1 Niemann-pick disease, type C Endocrine Disorder Endocrine Disorder Lysosomal Storage Lysosomal Storage OAT OPA3 OTC Gyrate atrophy of choroid and retina with or without ornithinemia 3-methylglutaconic aciduria, type III Ornithine transcarbamylase Metabolic Disorder Metabolic Disorder Metabolic Disorder - PAH Phenylketonuria Metabolic Disorder - PAX8 PC Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia Pyruvate carboxylase Endocrine Disorder PCBD1 Hyperphenylalaninemia, BH4-deficient, D Metabolic Disorder - PCCA Propionic acidemia Metabolic Disorder - PCCB Propionic acidemia Metabolic Disorder - 13

14 PHGDH PHKB PNP PNPO POU1F1 3-phosphoglycerate dehydrogenase Glycogen storage disease, type IXb Immuno due to purine nucleoside phosphorylase Pyridoxamine 5 -phosphate oxidase Combined pituitary hormone Metabolic Disorder Other Disorders Primary Endocrine Disorder PPARG PRF1 peroxisome proliferator activated receptorgamma (PPAR-g) ligand resistance syndrome (PLRS) or familial partial lipodystrophy type 3 Hemophagocytic lymphohistiocytosis, familial, Primary PRODH Hyperprolinemia, type I Metabolic Disorder - PROP1 Combined pituitary hormone Endocrine Disorder PRRT2 PTPRC PTS Familial infantile convulsions with paroxysmal choreoathetosis Severe combined immuno PTPRCrelated Hyperphenylalaninemia, BH4-deficient, A Other Disorders Primary Metabolic Disorder - 14

15 PYGL Glycogen storage disease, type VI Other Disorders QDPR RAG1 RAG2 Hyperphenylalaninemia, BH4-deficient, C Omenn syndrome and other RAG1-related disorders Omenn syndrome RAG2- related Metabolic Disorder Primary Primary RB1 Retinoblastoma Other Disorders SCN2A SCN8A SLC22A5 SLC25A13 SLC25A15 SLC25A20 Early infantile epileptic encephalopathy 11 / Benign familial infantile seizures 3 Early infantile epileptic encephalopathy 13 / Benign familial infantile seizures 5 Carnitine, systemic primary Citrullinemia, type II, adultonset - neonatal-onset Hyperornithinemiahyperammonemiahomocitrullinemia syndrome Carnitine-acylcarnitine translocase Other Disorders Other Disorders Metabolic Disorder - fatty acid Metabolic Disorder Metabolic Disorder Metabolic Disorder - fatty acid SLC26A4 Pendred syndrome Deafness SLC26A4 Deafness, autosomal recessive 4, with enlarged vestibular aqueduct Deafness 15

16 SLC2A1 Glucose transporter syndrome and other SLC2A1-related disorders SLC37A4 Glycogen storage disease Ib Lysosomal Storage SLC37A4 Glycogen storage disease Ic Lysosomal Storage SLC39A4 Acrodermatitis enteropathica SLC3A1 Cystinuria Metabolic Disorder - SLC4A1 Distal renal tubular acidosis and other SLC4A1-related disorders SLC5A5 Thyroid dyshormonogenesis Endocrine Disorder SLC7A7 Lysinuric protein intolerance SLC7A9 Cystinuria Metabolic Disorder - SMPD1 SMPD1 SPR Niemann-Pick disease, type A Niemann-Pick disease, type B Sepiapterin reductase STAR Lipoid adrenal hyperplasia Lysosomal Storage Lysosomal Storage Metabolic Disorder - STX11 Hemophagocytic lymphohistiocytosis, familial, Primary 16

17 SUCLA2 SUCLG1 Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic Metabolic Disorder - Organic Acidemias Metabolic Disorder - Organic Acidemias aciduria) TAT Tyrosinemia, type II Metabolic Disorder - TAZ 3-methylglutaconic aciduria, type II - Barth syndrome TCIRG1 Osteopetrosis Metabolic Disorder - TG Thyroid dyshormonogenesis Endocrine Disorder TH Segawa syndrome THRA TMEM70 TPO Congenital nongoitrous hypothryoidism 6 Mitochondrial complex V (ATP synthase), nuclear type 2 Thyroid dyshormonogenesis 2A Endocrine Disorder Metabolic Disorder - Organic Acidemias Endocrine Disorder TRHR Generalized thyrotropinreleasing hormone resistance TRMU Acute infantile liver failure

18 TSHB Congenital nongoitrous hypothryoidism Endocrine Disorder TSHR TTPA Hypothyroidism, congenital, nongoitrous, 1 Ataxia with isolated vitamin E Endocrine Disorder Other Disorders UNC13D WT1 Hemophagocytic lymphohistiocytosis, familial, 3 Wilms tumor, type 1 and other WT1-related disorders Primary ZAP70 Immuno Primary * : Recommended Uniform Screening Panel - Core Conditions ACOG Committee Opinion 616 Jan 2015 ** : Recommended Uniform Screening Panel - Secondary Conditions ACOG Committee Opinion 616 Jan

19 BabyNEXT TM Farmacogenetica Lista dei geni analizzati e dei farmaci metabolizzati dai rispettivi enzimi Gene Drugs OMIM gene CYP1A2 Phenacetin CYP2C19 Amitriptyline, Citalopram, Clomipramine, Doxepin, Escitalopram, Sertraline, Trimipramine, Clopidogrel, Voriconazole CYP2C9 Celecoxib, Warfarin, Fosphenytoin, Phenytoin CYP2D6 Codeine, Hydrocodone, Oxycodone, Tramadol, Ondansetron, Amitriptyline, Clomipramine, Desipramine, Doxepin, Fluoxetine, Fluvoxamine, Imipramine, Notriptyline, Paroxetine, Trimipramine, Aripiprazole, Iloperidone, Pimozide, Eliglustat, Atomoxetine CYP3A4 Imipramine, Amitriptyline, Sertraline, Venlafaxine, Nefazodone, Alprazolam, Triazolam, Midazolam, Ketoconazole, Itraconazole, Fluconazole, Astemizole, Ritonavir, Indinavir, Nelfinavir, Saquinavir, Carbamazepine, Dexamethasone, Phenobarbital, Phenytoin, Rifampicin, Terfenadine, Verapamil, Testosterone, Theophylline, Carbamazepine, Cisapride, Dexamethasone, Eritromicina, Ethinyl estradiol, Glyburide, Cyclosporin, Lovastatin CYP3A5 Tacrolimus CYP3A7 responsible for the of more than 50% of all clinically used drugs DPYD Capecitabine SLCO1B1 Simvastatin TPMT Mercaptopurine, Thioguanine, Azathioprine UGT1A1 Atazanavir VKORC1 Warfarin