CENTOGENE Report: Diagnosed cases of rare diseases at CENTOGENE January 2012 to June 2016 Elucidating the basis for the link between the clinical phenotype and At CENTOGENE we are committed to helping you with your genotype correlation, and the factors contributing to reveal disease medical needs. frequency, provide new insights into the genetics, pathophysiology and therapeutic options available for rare diseases. Analyzing samples We are pleased to present our analysis from January 2012 to from over 100 countries worldwide allows us to understand ethnic June 2016 of diagnosed cases at CENTOGENE. In that period, differences that are important for a comprehensive test interpretation. CENTOGENE has confirmed more than 21,077 cases. With the help of our unique, multi-ethnic CENTOGENE mutation CENTOGENE’s American and European accreditations (CAP, CLIA database CentoMD® we are able to help you detecting the right and ISO) confirm our highest quality standards for diagnostic genotype/phenotype correlation as well as provide differential testing and medical reporting. diagnostic approaches. Our partners worldwide Samples ■ > 2000 ■ 501 – 2000 ■ 101 – 500 ■ 51 – 100 ■ < 50 June 2015 to May 2016 › Contact details CENTOGENE AG Customer Service Schillingallee 68 Phone: +49 (0)381 203 652- 222 18057 Rostock, Germany Fax: +49 (0)381 203 652-119 www.centogene.com E-Mail: [email protected] CLIA #99D2049715 V6_August2016 Confirmed cases/carriers by disease category Diagnosed Diagnosed cases/ cases/ Disease carriers Disease carriers 01/2012 - 01/2012 - 06/2016 06/2016 OMIM Name TOTAL OMIM Name TOTAL 01. Metabolic disorders 311250 Ornithine transcarbamylase deficiency 28 TOTAL 8233 243500 Isovaleric acidemia 27 301500 Fabry Disease 2354 235200 Hemochromatosis 26 230800 Gaucher Disease 578 228000 Farber lipogranulomatosis 26 309900 Mucopolysaccharidosis II (Hunter syndrome) 565 610921 Surfactant metabolsim dysfunction, pulmonary, 3 25 232300 Glycogen storage disease II (Pompe) 377 212140 Carnitine deficiency, systemic primary 25 257220 Niemann-Pick disease, type C1 198 276700 Tyrosinemia, type I 24 253000 Mucopolysaccharidosis IVA 177 230400 Galactosemia 24 607015 Mucopolysaccharidosis Ih/s 163 236792 L-2-hydroxyglutaric aciduria 24 219700 Cystic fibrosis 134 609015 Trifunctional protein deficiency 23 250100 Metachromatic leukodystrophy 122 143890 Hypercholesterolemia, familial 22 253200 Mucopolysaccharidosis type VI (Maroteaux-Lamy) 118 272200 Multiple sulfatase deficiency 22 201910 Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency 117 232220 Glycogen storage disease Ib 22 245200 Krabbe disease 82 253220 Mucopolysaccharidosis VII 21 606054 Propionicacidemia 80 218030 Apparent mineralocorticoid excess 21 277900 Wilson disease 75 601847 Cholestasis, progressive familial intrahepatic, 2 21 257200 Niemann-Pick disease, type A 74 602347 Cholestasis, progressive familial intrahepatic, 3 21 252900 Mucopolysaccharidosis type IIIA (Sanfilippo A) 72 237300 Carbamoylphosphate synthetase I deficiency 21 253260 Biotinidase deficiency 59 246450 HMG-CoA lyase deficiency 21 248600 Maple syrup urine disease, type Ia 59 210210 3-Methylcrotonyl-CoA carboxylase 2 deficiency 20 230500 GM1-gangliosidosis, type I 52 272300 Sulfite oxidase deficiency 20 268800 Sandhoff disease, infantile, juvenile, and adult forms 50 261630 Hyperphenylalaninemia, BH4-deficient, C 19 259900 Hyperoxaluria, primary, type 1 49 256731 Ceroid lipofuscinosis, neuronal, 5 19 248600 Maple syrup urine disease, type Ib 48 224120 Anemia, congenital dyserythropoietic, type I 18 201475 Very long Chain acyl-CoA dehydrogenase deficiency 46 203400 Hypoaldosteronism, congenital, due to CMO I deficiency 18 219800 Cystinosis nephropathic 46 614096 Combined oxidative phosphorylation deficiency 8 18 252920 Mucopolysaccharidosis type IIIB (Sanfilippo B) 46 266150 Pyruvate carboxylase deficiency 18 266200 Pyruvate kinase deficiency 43 204200 Ceroid lipofuscinosis, neuronal, 3 18 207900 Argininosuccinic aciduria 42 607625 Niemann-pick disease, type C2 17 231680 Glutaric acidemia 42 252930 Mucopolysaccharidosis type IIIC (Sanfilippo C) 17 232600 Glycogen storage disease type V/McArdle disease 40 255120 CPT deficiency, hepatic, type IA 16 251000 Methylmalonic aciduria, mut(0) type 39 600143 Ceroid lipofuscinosis, neuronal, 8 15 204500 Ceroid lipofuscinosis, neuronal, 2 38 212065 Congenital disorder of glycosylation, type Ia 15 231670 Glutaricaciduria, type I 36 229700 Fructose-1,6-bidphosphatase deficiency 15 246900 Dihydrolipoamide dehydrogenase deficiency / MSUD III 36 176000 Porphyria, acute intermittent 15 272800 Tay-Sachs disease 34 256450 Hyperinsulinemic hypoglycemia, familial 1 15 261600 Phenylketonuria 34 306000 Glycogen storage disease, type IXa1/a2 15 252500 Mucolipidosis II alpha/beta 34 227810 Fanconi-Bickel syndrome 14 215700 Citrullinemia 34 613490 Alpha-1-antitrypsin deficiency 14 201450 Medium chain acyl-CoA dehydrogenase deficiency 32 256550 Neuraminidase deficiency 14 227650 Fanconi anemia, complementation group A 32 230000 Fucosidosis 14 232400 Glycogen storage disease III 31 203750 Alpha-methylacetoacetic aciduria 14 601780 Ceroid lipofuscinosis, neuronal, 6 30 615574 Asparagine synthetase deficiency 14 248600 Maple syrup urine disease, type II 30 256540 Galactosialidosis 14 249100 Familial Mediterranean fever, AR 29 232500 Glycogen storage disease IV 13 277400 Methylmalonic aciduria and homocystinuria, cblC type 29 610951 Ceroid lipofuscinosis, neuronal, 7 13 232200 Glycogen storage disease Ia 29 304800 Diabetes insipidus, nephrogenic 13 2 Diagnosed Diagnosed cases/ cases/ Disease carriers Disease carriers 01/2012 - 01/2012 - 06/2016 06/2016 OMIM Name TOTAL OMIM Name TOTAL 606003 Transaldolase deficiency 13 222700 Lysinuric protein intolerance 6 612736 Guanidinoacetate methyltransferase deficiency 12 614924 Combined oxidative phosphorylation deficiency 12 6 253010 Mucopolysaccharidosis type IVB (Morquio) 12 136120 Fish-eye disease 6 614576 Congenital disorder of glycosylation, type IIl 12 610549 Diabetes mellitus, insulin-resistant, with acanthosis nigricans 6 125851 Maturity-onset diabetes of the young, type 2 12 201810 3-beta-hydroxysteroid dehydrogenase, type II, deficiency 6 229600 Fructose intolerance 12 614922 Combined oxidative phosphorylation deficiency 11 6 278000 Wolman disease 12 300816 Combined oxidative phosphorylation deficiency 6 6 251110 Methylmalonic aciduria, cblB type 11 615317 Multiple mitochondrial dysfunctions syndrome 6 607616 Niemann-Pick disease, type B 11 218800 Crigler-Najjar syndrome, type I 6 261750 Glycogen storage disease IXb 10 603147 Congenital disorder of glycosylation, type Ic 6 610832 Fanconi anemia, complementation group N 10 601110 Congenital disorder of glycosylation, type Id 6 609016 long-chain 3-hydroxyl-CoA dehydrogenase deficiency 10 300884 Congenital disorder of glycosylation, type Is 5 614265 Combined malonic and methylmalonic aciduria 10 271980 Succinic semialdehyde dehydrogenase deficiency 5 238600 Hyperlipoproteinemia, type 1 9 262190 Rabson-Mendenhall syndrome 5 232700 Glycogen storage disease VI 9 142680 Periodic fever, familial 5 245050 Succinyl CoA:3-oxoacid CoA transferase deficiency 9 601346 Martinez-Frias syndrome 5 224100 Anemia, dyserythropoietic congenital, type II 9 204750 2-aminoadipic 2-oxoadipic aciduria 5 602390 Hemochromatosis, type 2A 9 300559 Muscle glycogenosis 5 614082 Fanconi anemia, complementation group G 9 261680 Phosphoenolpyruvate carboxykinase-1, cytosolic, deficiency 5 614300 Hypermethioninemia due to adenosine kinase deficiency 9 609924 Aminoacylase 1 deficiency 5 241510 Hypophosphatasia, childhood 8 603467 Fanconi anemia, complementation group F 5 246200 Donohue syndrome 8 613559 Combined oxidative phosphorylation deficiency 7 5 137920 Maturity-onset diabetes of the young type 5 8 614372 Mannose-Binding Protein Deficiency 5 125850 MODY, type I 8 608540 Congenital disorder of glycosylation, type Ik 5 248190 Hypomagnesemia 5, renal, with ocular involvement 8 614307 Alpha-methylacyl-CoA racemase deficiency 5 252150 Molybdenum cofactor deficiency 8 248250 Hypomagnesemia 3, renal 5 248360 Malonyl-CoA decarboxylase deficiency 8 210200 3-Methylcrotonyl-CoA carboxylase 1 deficiency 5 3-methylglutaconic aciduria with deafness, encephalopathy, and 227646 Fanconi anemia, complementation group D2 5 614739 8 Leigh-like syndrome 227645 Fanconi anemia, complementation group C 5 252940 Mucopolysaccharidosis type IIID 8 600496 Maturity-onset diabetes of the young type 3 5 211600 Cholestasis, Progressive Familial Intrahepatic, 1 8 245349 Lacticacidemia due to PDX1 deficiency 5 251100 Methylmalonic aciduria, cblA type 7 261640 Hyperphenylalaninemia, BH4-deficient, A 4 605724 Fanconi anemia, complementation group D1 7 220110 Mitochondrial complex IV deficiency 4 600649 CPT deficiency, hepatic, type II 7 300352 Cerebral creatine deficiency syndrome 1 4 256730 Ceroid lipofuscinosis, neuronal, 1 7 607398 Glucocorticoid deficiency 2 4 613646 Methylmalonic aciduria due to transcobalamin receptor defect 7 613027 Glycogen storage disease IXc 4 258900 Orotic aciduria 7 176200 Porphyria variegata 4 613280 Hypermanganesemia with dystonia, polycythemia, and cirrhosis 7 205400 Tangier disease 4 146300 Hypophosphatasia, adult 7 248510 Mannosidosis, Beta A, Lysosomal 4 275350 Transcobalamin II deficiency 7 252011 Mitochondrial complex II deficiency 4 250940 Homocystinuria-megaloblastic anemia, cblG complementation type 7 611126 Acyl-Coa Dehydrogenase Family, Member 9, Deficiency Of 4 615440 Combined oxidative phosphorylation