GeneScreen : Elenco dei geni analizzati e malattie genetiche investigate

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1 GeneScreen : Elenco dei geni analizzati e malattie genetiche investigate DISEASE NAME PhenoMIM GENE 1 17-alpha-hydroxylase/17,20-lyase deficiency CYP17A beta-hydroxysteroid dehydrogenase X deficiency HSD17B beta-hydroxysteroid dehydrogenase, type II, deficiency HSD3B2 4 3-hydroxy-3-methylglutaric aciduria HMGCL 5 3-methylglutaconic aciduria type AUH 6 3-methylglutaconic aciduria type OPA3 7 46XY sex reversal NR5A1 8 4-hydroxybutyric aciduria ALDH5A1 9 Aarskog-Scott syndrome FGD1 10 ABCD syndrome EDNRB 11 Achalasia-addisonianism-alacrimia syndrome AAAS 12 Achondrogenesis type 1B SLC26A2 13 Acyl-CoA dehydrogenase 9 deficiency ACAD9 14 Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency CYP11B1 15 Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete CYP11A1 16 Adrenocortical insufficiency NR5A1 17 Adrenoleukodystrophy ABCD1 18 Adult neuronal ceroid lipofuscinosis PPT1 19 Adult neuronal ceroid lipofuscinosis CTSD 20 Adult neuronal ceroid lipofuscinosis 4A CLN6 21 Aicardi-Goutières syndrome TREX1 22 Aicardi-Goutieres syndrome RNASEH2B 23 Aicardi-Goutieres syndrome RNASEH2C 24 Aicardi-Goutieres syndrome RNASEH2A 25 Aicardi-Goutieres syndrome SAMHD1 26 Aldosteronism, glucocorticoid-remediable CYP11B1 27 Allan-Herndon-Dudley syndrome SLC16A2 28 Alpers syndrome POLG 29 Alpha-methylacyl-Coa Racemase deficiency AMACR 30 Alpha-thalassemia HBA1 31 Alpha-thalassemia myelodysplasia syndrome, somatic ATRX 32 Alpha-thalassemia/mental retardation syndrome ATRX 33 Alport syndrome COL4A5 34 Alport syndrome autosomal recessive (gene COL4A3) COL4A3 35 Alport syndrome autosomal recessive (gene COL4A4) COL4A4 36 Alström syndrome ALMS1 Pag. 1 di 19

2 37 Amish infantile epilepsy syndrome ST3GAL5 38 Amyotrophic lateral sclerosis 2, juvenile ALS2 39 Anauxetic dysplasia RMRP 40 Angelman syndrome UBE3A 41 Antenatal Bartter syndrome KCNJ1 42 Antenatal Bartter syndrome type SLC12A1 43 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis POR 44 Aplasia/hypoplasia of limbs and pelvis WNT7A 45 Aplastic anemia NBN 46 Apparent mineralocorticoid excess HSD11B2 47 Argininosuccinic aciduria ASL 48 Aromatic L-amino acid decarboxylase deficiency DDC 49 Arthrogryposis - renal dysfunction - cholestasis VPS33B 50 Arthrogryposis, renal dysfunction, and cholestasis VIPAR 51 Ataxia - oculomotor apraxia type APTX 52 Ataxia with vitamin E deficiency TTPA 53 Ataxia-telangiectasia ATM 54 Atelosteogenesis type II SLC26A2 55 Autism, susceptibility to, X-linked RPL10 56 Autoimmune lymphoproliferative syndrome, type IA FAS 57 Autoimmune lymphoproliferative syndrome, type IB FASLG 58 Autoimmune lymphoproliferative syndrome, type II CASP10 59 Autoimmune polyendocrinopathy syndrome, type I, with or without reversible metaphyseal dysplasia AIRE 60 Autosomal dominant Charcot-Marie-Tooth disease type 2K GDAP1 61 Autosomal recessive ataxia due to ubiquinone deficiency ADCK3 62 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness GDAP1 63 Autosomal recessive distal spinal muscular atrophy type PLEKHG5 64 Autosomal recessive dopa-responsive dystonia TH 65 Autosomal recessive hypophosphatemic rickets DMP1 66 Autosomal recessive hypophosphatemic rickets ENPP1 67 Autosomal recessive intermediate Charcot-Marie-Tooth disease type A GDAP1 68 Autosomal recessive limb-girdle muscular dystrophy type 2I FKRP 69 Autosomal recessive limb-girdle muscular dystrophy type 2M FKTN 70 Autosomal recessive limb-girdle muscular dystrophy type C POMGNT1 71 Autosomal recessive limb-girdle muscular dystrophy type C POMT1 72 Autosomal recessive limb-girdle muscular dystrophy type C POMT2 73 Autosomal recessive malignant osteopetrosis TCIRG1 74 Autosomal recessive malignant osteopetrosis CLCN7 Pag. 2 di 19

3 75 Autosomal recessive nonsyndromic sensorineural deafness type DFNB CDH23 76 Autosomal recessive nonsyndromic sensorineural deafness type DFNB USH1C 77 Autosomal recessive nonsyndromic sensorineural deafness type DFNB1A (gene GJB2) GJB2 78 Autosomal recessive nonsyndromic sensorineural deafness type DFNB MYO7A 79 Autosomal recessive polycystic kidney disease PKHD1 80 Autosomal recessive progressive external ophthalmoplegia POLG 81 Autosomal recessive spastic ataxia of Charlevoix-Saguenay SACS 82 Autosomal recessive spondylocostal dysostosis DLL3 83 Bannayan-Riley-Ruvalcaba syndrome PTEN 84 Barth syndrome TAZ 85 Becker muscular dystrophy DMD 86 Beckwith-Wiedemann syndrome NSD1 87 Beta-thalassemia HBB 88 Bethlem myopathy COL6A1 89 Bethlem myopathy COL6A2 90 Bethlem myopathy COL6A3 91 Bifunctional enzyme deficiency HSD17B4 92 Biotinidase deficiency BTD 93 Björnstad syndrome BCS1L 94 Bloom syndrome BLM 95 Brachytelephalangic chondrodysplasia punctata ARSE 96 Brittle cornea syndrome ZNF Caffey disease COL1A1 98 Canavan disease ASPA 99 Carbamoylphosphate synthetase deficiency CPS1 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase 100 deficiency SCO2 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase 101 deficiency COX Carnitine deficiency, systemic primary SLC22A5 103 Carnitine palmitoyl transferase 1A deficiency CPT1A 104 Carnitine palmitoyl transferase II deficiency, infantile form CPT2 105 Carnitine palmitoyl transferase II deficiency, neonatal form CPT2 106 Carnitine-acylcarnitine translocase deficiency SLC25A Carpenter syndrome RAB Cartilage-hair hypoplasia RMRP 109 Cataract - intellectual deficit - hypogonadism RAB3GAP2 110 Cataract 40, X-linked NHS 111 Cerebellar ataxia - intellectual deficit - dysequilibrium syndrome VLDLR 112 Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma SNAP29 Pag. 3 di 19

4 syndrome 113 Cerebrotendinous xanthomatosis CYP27A1 114 Charcot-Marie-Tooth disease axonal type 2B LMNA 115 Charcot-Marie-Tooth disease type 4A GDAP1 116 Charcot-Marie-Tooth disease type 4E EGR2 117 Charcot-Marie-Tooth disease type 4F PRX 118 Charcot-Marie-Tooth disease type 4H FGD4 119 Charcot-Marie-Tooth disease, type 1A PMP Charcot-Marie-Tooth disease, type 1B MPZ 121 Charcot-Marie-Tooth disease, type 1E PMP Charcot-Marie-Tooth disease, type 2I MPZ 123 Charcot-Marie-Tooth disease, type 2J MPZ 124 Chediak-Higashi syndrome LYST 125 Chilblain lupus SAMHD1 126 Childhood-onset hypophosphatasia ALPL 127 Cholestasis, benign recurrent intrahepatic ATP8B1 128 Cholestasis, benign recurrent intrahepatic, ABCB Cholestasis, intrahepatic, of pregnancy, ATP8B1 130 Cholestasis, intrahepatic, of pregnancy, ABCB4 131 Cholestasis, progressive familial intrahepatic ATP8B1 132 Cholestasis, progressive familial intrahepatic ABCB Cholestasis, progressive familial intrahepatic ABCB4 134 Chondrodysplasia, Blomstrand type PTH1R 135 Citrullinemia type I ASS1 136 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency CYP21A2 137 Classic galactosemia GALT 138 Classic maple syrup urine disease DBT 139 Classical homocystinuria CBS 140 COACH syndrome TMEM Cockayne syndrome type A ERCC8 142 Cockayne syndrome type B ERCC6 143 Coenzyme Q10 deficiency, primary, COQ9 144 Coffin-Lowry syndrome RPS6KA3 145 COFS syndrome ERCC6 146 Cohen Syndrome type VPS13B 147 Cold-induced sweating syndrome CRLF1 148 Combined immunodeficiency with skin granulomas RAG1 149 Combined immunodeficiency with skin granulomas RAG2 150 Combined oxidative phosphorylation defect type MRPS16 Pag. 4 di 19

5 151 Combined oxidative phosphorylation defect type MRPS Combined oxidative phosphorylation deficiency TUFM 153 Combined pituitary hormone deficiencies, genetic forms HESX1 154 Combined pituitary hormone deficiencies, genetic forms POU1F1 155 Combined pituitary hormone deficiencies, genetic forms PROP1 156 Combined pituitary hormone deficiency with spine abnormalities LHX3 157 Complete androgen insensitivity syndrome AR 158 Complex I, mitochondrial respiratory chain, deficiency of NDUFS6 159 Congenital bile acid synthesis defect type AMACR 160 Congenital disorder of glycosylation type 1a PMM2 161 Congenital disorder of glycosylation type 1b MPI 162 Congenital disorder of glycosylation type 1e DPM1 163 Congenital disorder of glycosylation type 1j DPAGT1 164 Congenital disorder of glycosylation type 2a MGAT2 165 Congenital disorder of glycosylation type 2c SLC35C1 166 Congenital disorder of glycosylation type 2d B4GALT1 167 Congenital disorder of glycosylation type 2f SLC35A1 168 Congenital disorder of glycosylation type Ic ALG6 169 Congenital disorder of glycosylation type Ik ALG1 170 Congenital disorder of glycosylation, type Id ALG3 171 Congenital disorder of glycosylation, type If MPDU1 172 Congenital disorder of glycosylation, type Ig ALG Congenital disorder of glycosylation, type Ih ALG8 174 Congenital disorder of glycosylation, type Ii ALG2 175 Congenital disorder of glycosylation, type IIb MOGS 176 Congenital disorder of glycosylation, type IIe COG7 177 Congenital disorder of glycosylation, type IIg COG1 178 Congenital disorder of glycosylation, type IIh COG8 179 Congenital disorder of glycosylation, type Il ALG9 180 Congenital disorder of glycosylation, type Im DOLK 181 Congenital disorder of glycosylation, type In RFT1 182 Congenital disorder of glycosylation, type Iq SRD5A3 183 Congenital fibrinogen deficiency (gene FGA) FGA 184 Congenital heart defects, nonsyndromic, 1, X-linked ZIC3 185 Congenital hereditary endothelial dystrophy type II SLC4A Congenital lipoid adrenal hyperplasia STAR 187 Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells NEUROG3 188 Congenital muscular dystrophy type 1A LAMA2 189 Congenital muscular dystrophy type 1D LARGE Pag. 5 di 19

6 190 Congenital muscular dystrophy type 4B FKTN 191 Congenital muscular dystrophy type 5B FKRP 192 Congenital muscular dystrophy with cerebellar involvement POMGNT1 193 Congenital muscular dystrophy with cerebellar involvement POMT1 194 Congenital muscular dystrophy with cerebellar involvement POMT2 195 Corneal dystrophy - perceptive deafness SLC4A Corpus callosum agenesis - neuronopathy SLC12A6 Corpus callosum hypoplasia-retardation-adducted thumbs-spasticityhydrocephalus syndrome L1CAM 198 Cowden syndrome PTEN 199 Craniofrontonasal dysplasia EFNB1 200 Cutis laxa, autosomal dominant FBLN5 201 Cutis laxa, autosomal recessive, type IA FBLN5 202 Cutis laxa, autosomal recessive, type IB EFEMP2 203 Cutis laxa, autosomal recessive, type IIA ATP6V0A2 204 Cystic fibrosis; mucoviscidosis CFTR 205 Cystinosis CTNS 206 Deafness - encephaloneuropathy - obesity - valvulopathy PDSS1 207 Dejerine-Sottas disease MPZ 208 Dejerine-Sottas disease PMP Dent disease CLCN5 210 Dent disease OCRL 211 Desmosterolosis DHCR Diabetes mellitus, noninsulin-dependent ABCC8 213 Diabetes mellitus, permanent neonatal ABCC8 214 Diabetes mellitus, transient neonatal ABCC8 215 Diastrophic dwarfism SLC26A2 216 Dihydropyrimidine dehydrogenase deficiency DPYD 217 Dilated cardiomyopathy with ataxia DNAJC Donnai-Barrow syndrome LRP2 219 Duchenne muscular dystrophy DMD 220 Dyskeratosis congenita X-linked DKC1 221 Dystrophic epidermolysis bullosa pruriginosa COL7A1 222 Early infantile epileptic encephalopathy ARX 223 Early infantile epileptic encephalopathy SLC25A Ectodermal dysplasia 1, hypohidrotic, X-linked EDA 225 Ectodermal dysplasia, hypohidrotic, with immune deficiency IKBKG 226 Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency IKBKG 227 Ehlers-Danlos syndrome type PLOD1 228 Ehlers-Danlos syndrome, cardiac valvular type COL1A2 Pag. 6 di 19

7 229 Ehlers-Danlos syndrome, type I COL1A1 230 Ehlers-Danlos syndrome, type VIIA COL1A1 231 Eiken syndrome PTH1R 232 Ellis-van Creveld syndrome EVC2 233 Ellis-van Creveld syndrome EVC 234 Encephalopathy due to prosaposin deficiency PSAP 235 Epidermolysis bullosa simplex with muscular dystrophy PLEC 236 Epidermolysis bullosa simplex with pyloric atresia PLEC 237 Epilepsy, progressive myoclonic 2A (Lafora) EPM2A 238 Epilepsy, progressive myoclonic 2B (Lafora) NHLRC1 239 Epilepsy, pyridoxine-dependent ALDH7A1 240 Epileptic encephalopathy, early infantile, ST3GAL3 241 Epileptic encephalopathy, early infantile, CDKL5 242 Epileptic encephalopathy, early infantile, ARHGEF9 243 Epileptic encephalopathy, early infantile, PCDH Escobar syndrome CHRNG 245 Ethylmalonic encephalopathy ETHE1 246 Exudative vitreoretinopathy 2, X-linked NDP 247 Fabry disease GLA 248 Failure of tooth eruption, primary PTH1R 249 Familial dysautonomia IKBKAP Familial hypomagnesemia - hypercalciuria - nephrocalcinosis - severe ocular 250 involvement CLDN Familial Mediterranean fever MEFV 252 Fanconi anemia complementation group C FANCC 253 Fatal infantile lactic acidosis with methylmalonic aciduria SUCLG1 Fatal mitochondrial disease due to combined oxidative phosphorylation 254 deficiency TSFM 255 Favism G6PD 256 Fertile eunuch syndrome GNRHR 257 Fetal akinesia deformation sequence RAPSN 258 Fetal akinesia deformation sequence DOK7 259 Fetal Gaucher disease GBA 260 FG syndrome CASK 261 Fibular hypoplasia or aplasia - femoral bowing - oligodactyly WNT7A 262 Fraser syndrome (gene FRAS1) FRAS1 263 Fraser syndrome (gene FRAS2) FREM2 264 Free sialic acid storage disease, infantile form SLC17A5 265 French-Canadian type Leigh syndrome LRPPRC 266 Fucosidosis FUCA1 Pag. 7 di 19

8 267 Fukuyama congenital muscular dystrophy FKTN 268 Fumaric aciduria FH 269 Galactokinase deficiency with cataracts GALK1 270 Gallbladder disease ABCB4 271 Gaucher disease type GBA 272 Gaucher disease type GBA 273 Gaucher disease type 3C GBA 274 Geleophysic dysplasia ADAMTSL2 275 Generalized junctional epidermolysis bullosa, non-herlitz type COL17A1 276 Glutaric acidemia type 2 (gene ETFA) ETFA 277 Glutaric acidemia type 2 (gene ETFB) ETFB 278 Glutaric acidemia type 2 (gene ETFDH) ETFDH 279 Glutaryl-CoA dehydrogenase deficiency GCDH 280 Glutathione synthetase deficiency with 5-oxoprolinuria GSS 281 Glycine encephalopathy AMT 282 Glycine encephalopathy GCSH 283 Glycine encephalopathy GLDC 284 Glycogen storage disease due to acid maltase deficiency GAA 285 Glycogen storage disease due to glucose-6-phosphatase deficiency type 1a G6PC 286 Glycogen storage disease due to glucose-6-phosphatase deficiency type b SLC37A4 287 Glycogen storage disease due to glucose-6-phosphatase deficiency type c SLC37A4 Glycogen storage disease due to glycogen branching enzyme deficiency, 288 childhood combined hepatic and myopathic form GBE1 289 Glycogen storage disease due to glycogen debranching enzyme deficiency AGL 290 Glycogen storage disease due to muscle glycogen phosphorylase deficiency PYGM 291 GM1 gangliosidosis type GLB1 292 GM1 gangliosidosis type GLB1 293 GM1 gangliosidosis type GLB1 294 GRACILE syndrome BCS1L 295 Greenberg dysplasia LBR 296 Griscelli disease type MYO5A 297 Griscelli disease type RAB27A 298 Guanidinoacetate methyltransferase deficiency GAMT 299 Hemochromatosis, type 2A HFE2 300 Hemolytic anemia due to G6PD deficiency G6PD 301 Hemolytic anemia due to red cell pyruvate kinase deficiency PKLR 302 Hemophagocytic lymphohistiocytosis, familial, PRF1 303 Hemophagocytic lymphohistiocytosis, familial, UNC13D 304 Hemophagocytic lymphohistiocytosis, familial, STX Hemophagocytic lymphohistiocytosis, familial, STXBP2 Pag. 8 di 19

9 306 Hemophilia A F8 307 Hemophilia B F9 308 Hepatic venoocclusive disease with immunodeficiency SP110 Hepatoencephalopathy due to combined oxidative phosphorylation deficiency 309 type GFM1 310 Hereditary fructose intolerance ALDOB 311 Hereditary sensory and autonomic neuropathy type NTRK1 312 Hermansky-Pudlak syndrome AP3B1 313 Hermansky-pudlak syndrome PLDN 314 Heterotaxy, visceral, 1, X-linked ZIC3 315 Histidinemia HAMP 316 Holocarboxylase synthetase deficiency HLCS 317 Hoyeraal-Hreidarsson syndrome DKC1 318 Hyaline fibromatosis syndrome ANTXR2 319 Hyperammonemia due to N-acetylglutamate synthetase deficiency NAGS 320 Hyper-IgE recurrent infection syndrome, autosomal recessive DOCK8 321 Hyperinsulinemic hypoglycemia, familial, ABCC8 322 Hyperornithinemia-hyperammonemia-homocitrullinuria SLC25A Hypoglycemia of infancy, leucine-sensitive ABCC8 324 Hypogonadotropic hypogonadism 7 without anosmia GNRHR 325 Hypomyelination - congenital cataract FAM126A 326 Hypoparathyroidism - intellectual deficit - dysmorphism syndrome TBCE 327 Hypophosphatemic rickets CLCN5 328 Ichthyosis follicularis - alopecia - photophobia MBTPS2 329 Ichthyosis, autosomal recessive 4B (harlequin) ABCA Ichthyosis, congenital, autosomal recessive TGM1 331 Ichthyosis, congenital, autosomal recessive 4A ABCA Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis CLDN1 333 Immunodeficiency STIM1 334 Immunodeficiency 17, CD3 gamma deficient CD3G 335 Immunodeficiency 18, SCID variant CD3E 336 Immunodeficiency CD3D 337 Immunodeficiency 27A, mycobacteriosis, AR IFNGR1 338 Immunodeficiency 28, mycobacteriosis IFNGR2 339 Immunodeficiency 29, mycobacteriosis IL12B 340 Immunodeficiency IL12RB1 341 Immunodeficiency 31A, mycobacteriosis, autosomal dominant STAT1 Immunodeficiency 31B, mycobacterial and viral infections, autosomal 342 recessive STAT1 343 Immunodeficiency 31C, autosomal dominant STAT1 Pag. 9 di 19

10 344 Immunodeficiency IKBKG 345 Immunodeficiency TYK2 346 Immunodeficiency ORAI1 347 Immunodeficiency, common variable, ICOS 348 Immunodeficiency, common variable, CD Immunodeficiency-centromeric instability-facial anomalies syndrome DNMT3B 350 Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked FOXP3 351 Incontinentia pigmenti, type II IKBKG 352 Infantile bilateral striatal necrosis NUP Infantile hypophosphatasia ALPL 354 Infantile neuroaxonal dystrophy 2A PLA2G6 355 Infantile neuroaxonal dystrophy 2B PLA2G6 356 Infantile onset spinocerebellar ataxia C10orf2 357 Interleukin 1 receptor antagonist deficiency IL1RN 358 Isolated CoQ-cytochrome C reductase deficiency BCS1L 359 Isolated growth hormone deficiency type III BTK 360 Isolated thyroid-stimulating hormone deficiency TSHB 361 Isovaleric acidemia IVD 362 Jeune syndrome IFT Johanson-Blizzard syndrome UBR1 364 Joubert syndrome NPHP1 365 Joubert syndrome TMEM Joubert syndrome with hepatic defect RPGRIP1L 367 Joubert syndrome with ocular defect AHI1 368 Joubert syndrome with oculorenal defect CEP Junctional epidermolysis bullosa - pyloric atresia ITGA6 370 Junctional epidermolysis bullosa with piloric atresia ITGB4 371 Junctional epidermolysis bullosa, Herlitz type (gene LAMA3) LAMA3 372 Junctional epidermolysis bullosa, Herlitz type (gene LAMB3) LAMA3 373 Junctional epidermolysis bullosa, Herlitz type (gene LAMC2) LAMC2 374 Junctional epidermolysis bullosa, non-herlitz type ITGB4 375 Junctional epidermolysis bullosa, non-herlitz type (gene LAMA3) LAMA3 376 Junctional epidermolysis bullosa, non-herlitz type (gene LAMB3) LAMB3 377 Junctional epidermolysis bullosa, non-herlitz type (gene LAMC2) LAMC2 378 Juvenile neuronal ceroid lipofuscinosis CLN3 379 Kahrizi syndrome SRD5A3 380 Kelley-Seegmiller syndrome HPRT1 381 Kennedy disease AR 382 Ketoacidosis due to beta-ketothiolase deficiency ACAT1 Pag. 10 di 19

11 383 Krabbe disease GALC 384 Krabbe disease PSAP 385 Lacticacidemia due to PDX1 deficiency PDHX 386 Late infantile neuronal ceroid lipofuscinosis MFSD8 387 Late infantile neuronal ceroid lipofuscinosis CLN5 388 Late infantile neuronal ceroid lipofuscinosis CLN6 389 Late infantile neuronal ceroid lipofuscinosis CLN8 390 Lathosterolosis SC5DL 391 Leigh syndrome BCS1L 392 Leigh syndrome DLD 393 Leigh syndrome NDUFAF2 394 Leigh syndrome NDUFS4 395 Leigh syndrome NDUFS7 396 Leigh syndrome due to cytochrome c oxidase deficiency COX Leigh syndrome due to mitochondrial complex I deficiency NDUFS3 398 Leigh syndrome due to mitochondrial complex I deficiency NDUFS8 399 Leigh syndrome due to mitochondrial COX4 deficiency COX Leigh syndrome with nephrotic syndrome COQ2 401 Leigh syndrome with nephrotic syndrome PDSS2 402 Leigh syndrome, due to COX deficiency SURF1 403 Leigh syndrome, X-linked PDHA1 404 Leprechaunism INSR 405 Lesch-Nyhan syndrome HPRT1 406 Lethal acantholytic epidermolysis bullosa DSP 407 Lethal ataxia with deafness and optic atrophy PRPS1 408 Lethal congenital contractural syndrome ERBB3 409 Lethal congenital contracture syndrome type GLE1 410 Lethal osteosclerotic bone dysplasia FAM20C 411 Lethal restrictive dermopathy LMNA 412 Lethal restrictive dermopathy ZMPSTE Leukocyte adhesion deficiency, type III FERMT3 414 Leydig cell adenoma, somatic, with precocious puberty LHCGR 415 Leydig cell hypoplasia with hypergonadotropic hypogonadism LHCGR 416 Leydig cell hypoplasia with pseudohermaphroditism LHCGR 417 Lhermitte-Duclos syndrome PTEN 418 Limb girdle dystrophy with epidermolysis bullosa simplex PLEC 419 Lissencephaly TUBA1A 420 Lissencephaly syndrome, Norman-Roberts type RELN 421 Lissencephaly, X-linked DCX Pag. 11 di 19

12 422 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency HADH 423 Luteinizing hormone resistance, female LHCGR 424 Lymphoproliferative syndrome, X-linked, XIAP 425 Macrocephaly/autism syndrome PTEN 426 Macroglobulinemia, Waldenstrom MYD Macular degeneration, age-related, FBLN5 428 Mandibuloacral dysplasia with type A lipodystrophy LMNA 429 Mandibuloacral dysplasia with type B lipodystrophy ZMPSTE Mannosidosis, alpha-, types I and II MAN2B1 431 Maple syrup urine disease DLD 432 Maple syrup urine disease (gene BCKDHA) BCKDHA 433 Maple syrup urine disease (gene BCKDHB) BCKDHB 434 Marinesco-Sjögren syndrome SIL1 435 Masa syndrome L1CAM 436 Meckel syndrome type MKS1 437 Meckel syndrome, type RPGRIP1L 438 Medium chain acyl-coa dehydrogenase deficiency ACADM 439 Megalencephalic leukoencephalopathy with subcortical cysts MLC1 440 Menkes disease ATP7A 441 Mental retardation and microcephaly with pontine and cerebellar hypoplasia CASK 442 Mental retardation, autosomal recessive PRSS Mental retardation, autosomal recessive ST3GAL3 444 Mental retardation, autosomal recessive TRAPPC9 445 Mental retardation, autosomal recessive NSUN2 446 Mental retardation, autosomal recessive, GRIK2 447 Mental retardation, with or without nystagmus CASK 448 Mental retardation, X-linked NLGN4X 449 Mental retardation, X-linked RPS6KA3 450 Mental retardation, X-linked 21/ IL1RAPL1 451 Mental retardation, X-linked 30/ PAK3 452 Mental retardation, X-linked GDI1 453 Mental retardation, X-linked ARHGEF6 454 Mental retardation, X-linked ACSL4 455 Mental retardation, X-linked RAB39B 456 Mental retardation, X-linked FTSJ1 457 Mental retardation, X-linked DLG3 458 Mental retardation, X-linked BRWD3 459 Mental retardation, X-linked SYP 460 Mental retardation, X-linked ZNF711 Pag. 12 di 19

13 461 Mental retardation, X-linked syndromic FGD1 462 Mental retardation, X-linked syndromic AP1S2 463 Mental retardation, X-linked syndromic, Christianson type SLC9A6 464 Mental retardation, X-linked syndromic, Nascimento-type UBE2A 465 Mental retardation, X-linked syndromic, Raymond type ZDHHC9 466 Mental retardation, X-linked syndromic, Turner type HUWE1 467 Mental retardation, X-linked, FRAXE type AFF2 468 Mental retardation, X-linked, Snyder-Robinson type SMS 469 Mental retardation, X-linked, syndromic UPF3B 470 Mental retardation, X-linked, syndromic 15 (Cabezas type) CUL4B 471 Mental retardation, X-linked, syndromic, Claes-Jensen type KDM5C Mental retardation, X-linked, with cerebellar hypoplasia and distinctive 472 facial appearance OPHN1 473 Mental retardation, X-linked, with isolated growth hormone deficiency SOX3 474 Mental retardation-hypotonic facies syndrome, X-linked ATRX 475 Metachromatic leukodystrophy ARSA 476 Metachromatic leukodystrophy PSAP 477 Metaphyseal chondrodysplasia, Murk Jansen type PTH1R 478 Metaphyseal dysplasia without hypotrichosis RMRP 479 Methylmalonic acidemia with homocystinuria, type cblc MMACHC 480 Methylmalonic acidemia with homocystinuria, type cbld MMACHC 481 Mevalonic aciduria MVK 482 Micro syndrome RAB3GAP1 483 Microphthalmia, syndromic BCOR 484 Mitochondrial complex I deficiency NDUFA1 485 Mitochondrial complex I deficiency NDUFAF2 486 Mitochondrial complex I deficiency NDUFAF4 487 Mitochondrial complex I deficiency NDUFS3 488 Mitochondrial complex I deficiency NDUFS4 489 Mitochondrial complex I deficiency NDUFV1 490 Mitochondrial complex IV deficiency COX Mitochondrial complex IV deficiency COX6B1 492 Mitochondrial complex IV deficiency FASTKD2 493 Mitochondrial complex IV deficiency SCO1 494 Mitochondrial DNA depletion syndrome 1 (MNGIE type) TYMP Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or 495 without methylmalonic aciduria) SUCLA2 Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with 496 renal tubulopathy) RRM2B 497 Mitochondrial DNA depletion syndrome 8B (MNGIE type) RRM2B 498 Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK Pag. 13 di 19

14 DGUOK deficiency Mitochondrial DNA depletion syndrome, myopathic form TK2 500 Mitochondrial neurogastrointestinal encephalomyopathy POLG 501 Mitochondrial respiratory chain complex III deficiency UQCRB 502 Mitochondrial respiratory chain complex III deficiency UQCRQ 503 Mitochondrial trifunctional protein deficiency HADHA 504 Mitochondrial trifunctional protein deficiency HADHB 505 Mohr-Tranebjaerg syndrome TIMM8A 506 Mowat-Wilson syndrome ZEB2 507 Mucolipidosis type GNPTAB 508 Mucolipidosis type GNPTAB 509 Mucolipidosis type MCOLN1 510 Mucopolysaccharidosis Ih IDUA 511 Mucopolysaccharidosis Ih/s IDUA 512 Mucopolysaccharidosis Is IDUA 513 Mucopolysaccharidosis type IDS 514 Mucopolysaccharidosis type 3A (Sanfilippo syndrome type A) SGSH 515 Mucopolysaccharidosis type 4B GLB1 516 Mucopolysaccharidosis type ARSB 517 Mucopolysaccharidosis type GUSB 518 Mucopolysaccharidosis type IIIB (Sanfilippo B) NAGLU 519 MULIBREY nanism TRIM Multiple epiphyseal dysplasia type SLC26A2 521 Multiple pterygium syndrome, lethal type CHRNA1 522 Multiple pterygium syndrome, lethal type CHRND 523 Multiple pterygium syndrome, lethal type CHRNG 524 Muscle-eye-brain disease FKRP 525 Muscle-eye-brain disease LARGE 526 Myasthenia gravis, neonatal transient CHRNG 527 Myasthenia, limb-girdle, familial DOK7 528 Myasthenic syndrome, fast-channel congenital CHRNA1 529 Myasthenic syndrome, fast-channel congenital CHRND 530 Myasthenic syndrome, slow-channel congenital CHRNA1 531 Myasthenic syndrome, slow-channel congenital CHRND 532 Myopathy, tubular aggregate, STIM1 533 Myopathy, tubular aggregate, ORAI1 534 Nance-Horan syndrome NHS 535 Navajo neurohepatopathy MPV Nemaline myopathy NEB Pag. 14 di 19

15 537 Neonatal adrenoleukodystrophy (gene PEX12) PEX Neonatal adrenoleukodystrophy (gene PEX26) PEX Neonatal adrenoleukodystrophy (gene PEX5) PEX5 540 Nephrolithiasis, type I CLCN5 541 Nephronophthisis 2, infantile INVS 542 Nephrotic syndrome, tupe PLCE1 543 Nephrotic syndrome, type NPHS1 544 Nephrotic syndrome, type NPHS2 545 Nephrotic syndrome, type 5, with or without ocular abnormalities LAMB2 546 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency HIBCH 547 Neurodegeneration due to cerebral folate transport deficiency FOLR1 548 Neuronal ceroid lipofuscinosis TPP1 549 Neuropathy, congenital hypomyelinating MPZ 550 Neutropenia, severe congenital 3, autosomal recessive HAX1 551 Niemann-Pick disease type A SMPD1 552 Niemann-Pick disease type B SMPD1 553 Niemann-Pick disease type C NPC1 554 Niemann-Pick disease type C NPC2 555 Nijmegen breakage syndrome NBN 556 Norrie disease NDP 557 ntal retardation, autosomal recessive TUSC3 558 Occipital horn syndrome ATP7A 559 Oculocerebrorenal syndrome OCRL 560 Omenn syndrome DCLRE1C 561 Omenn syndrome (gene RAG1) RAG1 562 Omenn syndrome (gene RAG2) RAG2 563 Opitz GBBB syndrome, type I MID1 564 Ornithine transcarbamylase deficiency OTC 565 Osteogenesis imperfecta type LEPRE1 566 Osteogenesis imperfecta type VII CRTAP 567 Osteogenesis imperfecta, type I COL1A1 568 Osteogenesis imperfecta, type II COL1A1 569 Osteogenesis imperfecta, type III COL1A1 570 Osteogenesis imperfecta, type IV COL1A1 571 Osteopetrosis with renal tubular acidosis CA2 572 Osteopetrosis, autosomal recessive OSTM1 573 Paget disease, juvenile TNFRSF11B 574 Panhypopituitarism, X-linked SOX3 575 Pantothenate kinase-associated neurodegeneration PANK2 Pag. 15 di 19

16 576 Partial androgen insensitivity syndrome AR 577 Pelizaeus-Merzbacher-like due to GJC2 mutation GJC2 578 Peroxisomal acyl-coa oxidase deficiency ACOX1 579 Peroxisome biogenesis disorder 11A (Zellweger) PEX Peroxisome biogenesis disorder 11B PEX Peroxisome biogenesis disorder 6A (Zellweger) PEX Peroxisome biogenesis disorder 6B PEX Perrault syndrome HSD17B4 584 Phenylketonuria PAH 585 Pierson syndrome LAMB2 586 Pitt-Hopkins syndrome TCF4 587 Plasminogen deficiency type PLG 588 Pontocerebellar hypoplasia type 2A TSEN Pontocerebellar hypoplasia type TSEN Porphyria, congenital erythropoietic UROS 591 Precocious puberty, male LHCGR 592 Primary lateral sclerosis, juvenile ALS2 593 Progressive epilepsy - intellectual deficit, Finnish type CLN8 594 Properdin deficiency, X-linked CFP 595 Propionic acidemia (gene PCCA) PCCA 596 Propionic acidemia (gene PCCB) PCCB 597 Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis CLCN5 598 Proximal spinal muscular atrophy type SMN1 599 Proximal spinal muscular atrophy type SMN1 600 Proximal spinal muscular atrophy type SMN1 601 Proximal spinal muscular atrophy type SMN1 602 Pseudohermaphroditism, male, with gynecomastia HSD17B3 603 Pseudohypoaldosteronism type 1, autosomal recessive (gene SCNN1A) SCNN1A 604 Pseudohypoaldosteronism type 1, autosomal recessive (gene SCNN1B) SCNN1B 605 Pseudohypoaldosteronism type 1, autosomal recessive (gene SCNN1G) SCNN1G 606 Pseudovaginal perineoscrotal hypospadias SRD5A2 607 Pycnodysostosis CTSK 608 Pyogenic bacterial infections, recurrent, due to MYD88 deficiency MYD Pyridoxal phosphate-responsive seizures PNPO 610 Pyruvate carboxylase deficiency PC 611 Pyruvate dehydrogenase phosphatase deficiency PDP1 612 Renal-hepatic-pancreatic dysplasia NPHP3 613 Renpenning syndrome PQBP1 614 Rett syndrome, congenital variant FOXG1 Pag. 16 di 19

17 615 Rhizomelic chondrodysplasia punctata type PEX7 616 Rhizomelic chondrodysplasia punctata type AGPS 617 Rigid spine syndrome SEPN1 618 Roberts syndrome ESCO2 619 Roussy-Levy syndrome MPZ 620 Roussy-Levy syndrome PMP Sandhoff disease HEXB 622 Sanfilippo syndrome type C HGSNAT 623 Schneckenbecken dysplasia SLC35D1 624 Schwartz-Jampel syndrome HSPG2 625 Seckel syndrome ATR 626 Senior-Loken syndrome CEP Senior-Loken syndrome NPHP4 628 Senior-Loken syndrome NPHP3 629 Senior-Loken syndrome IQCB1 630 Sensory ataxic neuropathy - dysarthria - ophthalmoparesis POLG 631 Severe combined immunodeficiency due to adenosine deaminase deficiency ADA 632 Severe combined immunodeficiency due to complete RAG1/2 deficiency RAG1 633 Severe combined immunodeficiency due to complete RAG1/2 deficiency RAG2 634 Severe combined immunodeficiency due to DCLRE1C deficiency DCLRE1C Severe combined immunodeficiency with microcephaly, growth retardation, 635 and sensitivity to ionizing radiation NHEJ1 636 Severe combined immunodeficiency with sensitivity to ionizing radiation LIG4 637 Severe generalized recessive dystrophic epidermolysis bullosa COL7A1 638 Severe neonatal-onset encephalopathy with microcephaly MECP2 639 Severe T-cell immunodeficiency - congenital alopecia - nail dystrophy FOXN1 640 Short-rib thoracic dysplasia 3 with or without polydactyly DYNC2H1 641 Shwachman-Diamond syndrome SBDS 642 Sialidosis, type I NEU1 643 Sialidosis, type II NEU1 644 Sickle cell anemia HBB 645 Simpson-Golabi-Behmel syndrome type OFD1 646 Simpson-Golabi-Behmel syndrome, type GPC3 647 Síndrome de Dursun G6PC3 648 Sjogren-Larsson syndrome ALDH3A2 649 Smith-Lemli-Opitz syndrome DHCR7 650 Sotos syndrome NSD1 651 Spastic paralysis, infantile onset ascending ALS2 652 Spastic paraplegia type 2, X-linked PLP1 653 Spinal muscular atrophy with respiratory distress IGHMBP2 Pag. 17 di 19

18 654 Stocco dos Santos X-linked mental retardation syndrome SHROOM4 655 Stormorken syndrome STIM1 656 Stüve-Wiedemann syndrome LIFR 657 Subcortical laminal heteropia, X-linked DCX 658 Succinyl CoA:3-oxoacid CoA transferase deficiency OXCT1 659 Sudden infant death with dysgenesis of the testes syndrome TSPYL1 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A 660 (gene MOCS1) MOCS1 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A 661 (gene MOCS2) MOCS2 662 Sulfocysteinuria SUOX 663 Surfactant metabolism dysfunction, pulmonary, SFTPB 664 Surfactant metabolism dysfunction, pulmonary, SFTPC 665 Surfactant metabolism dysfunction, pulmonary, ABCA3 666 Syndromic microphthalmia type STRA6 667 Tay-Sachs disease HEXA 668 T-B+ severe combined immunodeficiency due to gamma chain deficiency IL2RG 669 T-B+ severe combined immunodeficiency due to JAK3 deficiency JAK3 670 T-B+ severe combined immunodeficiency, X-linked IL2RG 671 Tetra-amelia, autosomal recessive WNT3 672 Thrombocythemia MPL 673 Thrombocytopenia, congenital amegakaryocytic MPL 674 Thrombotic thrombocytopenic purpura, familial ADAMTS Tooth agenesis, selective, X-linked EDA 676 Trichothiodystrophy, complementation group A GTF2H5 677 Tyrosinemia type FAH 678 Tyrosinemia type TAT 679 Tyrosinemia type HPD 680 Ullrich congenital muscular dystrophy COL6A1 681 Ullrich congenital muscular dystrophy COL6A2 682 Ullrich congenital muscular dystrophy COL6A3 683 Unverricht-Lundborg disease CSTB 684 Usher syndrome type MYO7A 685 Usher syndrome type 1C USH1C 686 Usher syndrome type 1G USH1G 687 Usher syndrome type 2A USH2A 688 Usher syndrome type 2C GPR Usher syndrome type 3A CLRN1 690 Very long chain acyl-coa dehydrogenase deficiency ACADVL 691 Vitamin B12-responsive methylmalonic acidemia type cbla MMAA Pag. 18 di 19

19 692 Vitamin B12-responsive methylmalonic acidemia type cblb MMAB 693 Vitamin B12-unresponsive methylmalonic acidemia type mut MUT 694 Vitamin D-dependent rickets type 2A VDR 695 Vitamin D-dependent rickets, type I CYP27B1 696 Waardenburg-Shah syndrome 4A EDNRB 697 Waardenburg-Shah syndrome 4B EDN3 698 Walker-Warburg syndrome (gene POMGNT1) POMGNT1 699 Walker-Warburg syndrome (gene POMT1) POMT1 700 Walker-Warburg syndrome (gene POMT2) POMT2 701 Weyers acrodental dysostosis EVC 702 Wilson disease ATP7B 703 Wiskott-Aldrich syndrome WAS 704 Wolcott-Rallison syndrome EIF2AK3 705 Wrinkly skin syndrome ATP6V0A2 706 Xeroderma pigmentosum complementation group A XPA 707 Xeroderma pigmentosum complementation group E DDB2 708 Xeroderma pigmentosum, group C XPC Xeroderma pigmentosum/cockayne syndrome complex complementation 709 group B ERCC3 Xeroderma pigmentosum/cockayne syndrome complex complementation 710 group D ERCC2 Xeroderma pigmentosum/cockayne syndrome complex complementation 711 group F ERCC4 Xeroderma pigmentosum/cockayne syndrome complex complementation 712 group G ERCC5 713 X-linked agammaglobulinemia BTK 714 X-linked centronuclear myopathy MTM1 715 X-linked Charcot-Marie-Tooth disease type PRPS1 716 X-linked creatine transporter deficiency SLC6A8 717 X-linked distal spinal muscular atrophy ATP7A 718 X-linked hyper-igm syndrome CD40LG 719 X-linked intellectual deficit with marfanoid habitus MED X-linked lymphoproliferative disease SH2D1A 721 X-linked severe congenital neutropenia WNT10A 722 X-linked spinal muscular atrophy type UBA1 723 Zellweger syndrome 1A PEX1 724 Zellweger syndrome 7A PEX26 Pag. 19 di 19