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Disease Reference Book The Counsyl Foresight™ Carrier Screen 180 Kimball Way | South San Francisco, CA 94080 www.counsyl.com | [email protected] | (888) COUNSYL The Counsyl Foresight Carrier Screen - Disease Reference Book 11-beta-hydroxylase-deficient Congenital Adrenal Hyperplasia .................................................................................................................................................................................... 8 21-hydroxylase-deficient Congenital Adrenal Hyperplasia ...........................................................................................................................................................................................10 6-pyruvoyl-tetrahydropterin Synthase Deficiency ..........................................................................................................................................................................................................12 ABCC8-related Hyperinsulinism........................................................................................................................................................................................................................................ 14 Adenosine Deaminase Deficiency .................................................................................................................................................................................................................................... 16 Alpha Thalassemia.............................................................................................................................................................................................................................................................. 18 Alpha-mannosidosis........................................................................................................................................................................................................................................................... 20 Alpha-sarcoglycanopathy................................................................................................................................................................................................................................................... 22 Alstrom Syndrome.............................................................................................................................................................................................................................................................. 24 AMT-related Glycine Encephalopathy .............................................................................................................................................................................................................................. 26 Andermann Syndrome....................................................................................................................................................................................................................................................... 28 Argininemia ......................................................................................................................................................................................................................................................................... 30 Argininosuccinic Aciduria................................................................................................................................................................................................................................................... 32 ARSACS................................................................................................................................................................................................................................................................................. 34 Aspartylglycosaminuria...................................................................................................................................................................................................................................................... 36 Ataxia with Vitamin E Deficiency ....................................................................................................................................................................................................................................... 38 Ataxia-telangiectasia........................................................................................................................................................................................................................................................... 40 ATP7A-related Disorders.................................................................................................................................................................................................................................................... 42 Autosomal Recessive Osteopetrosis Type 1.................................................................................................................................................................................................................... 44 Bardet-Biedl Syndrome, BBS1-related ............................................................................................................................................................................................................................. 46 Bardet-Biedl Syndrome, BBS10-related ........................................................................................................................................................................................................................... 48 Bardet-Biedl Syndrome, BBS12-related ........................................................................................................................................................................................................................... 50 Bardet-Biedl Syndrome, BBS2-related ............................................................................................................................................................................................................................. 52 Beta-sarcoglycanopathy..................................................................................................................................................................................................................................................... 54 Biotinidase Deficiency ........................................................................................................................................................................................................................................................ 56 Bloom Syndrome ................................................................................................................................................................................................................................................................ 58 Calpainopathy ..................................................................................................................................................................................................................................................................... 60 Canavan Disease................................................................................................................................................................................................................................................................. 62 Carbamoylphosphate Synthetase I Deficiency ............................................................................................................................................................................................................... 64 Carnitine Palmitoyltransferase IA Deficiency .................................................................................................................................................................................................................. 66 Carnitine Palmitoyltransferase II Deficiency ................................................................................................................................................................................................................... 68 Cartilage-hair Hypoplasia................................................................................................................................................................................................................................................... 70 Cerebrotendinous Xanthomatosis ................................................................................................................................................................................................................................... 72 Citrullinemia Type 1............................................................................................................................................................................................................................................................ 74 CLN3-related Neuronal Ceroid Lipofuscinosis ................................................................................................................................................................................................................ 76 CLN5-related Neuronal Ceroid Lipofuscinosis ...............................................................................................................................................................................................................
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    CCR PEDIATRIC ONCOLOGY SERIES CCR Pediatric Oncology Series Recommendations for Childhood Cancer Screening and Surveillance in DNA Repair Disorders Michael F. Walsh1, Vivian Y. Chang2, Wendy K. Kohlmann3, Hamish S. Scott4, Christopher Cunniff5, Franck Bourdeaut6, Jan J. Molenaar7, Christopher C. Porter8, John T. Sandlund9, Sharon E. Plon10, Lisa L. Wang10, and Sharon A. Savage11 Abstract DNA repair syndromes are heterogeneous disorders caused by around the world to discuss and develop cancer surveillance pathogenic variants in genes encoding proteins key in DNA guidelines for children with cancer-prone disorders. Herein, replication and/or the cellular response to DNA damage. The we focus on the more common of the rare DNA repair dis- majority of these syndromes are inherited in an autosomal- orders: ataxia telangiectasia, Bloom syndrome, Fanconi ane- recessive manner, but autosomal-dominant and X-linked reces- mia, dyskeratosis congenita, Nijmegen breakage syndrome, sive disorders also exist. The clinical features of patients with DNA Rothmund–Thomson syndrome, and Xeroderma pigmento- repair syndromes are highly varied and dependent on the under- sum. Dedicated syndrome registries and a combination of lying genetic cause. Notably, all patients have elevated risks of basic science and clinical research have led to important in- syndrome-associated cancers, and many of these cancers present sights into the underlying biology of these disorders. Given the in childhood. Although it is clear that the risk of cancer is rarity of these disorders, it is recommended that centralized increased, there are limited data defining the true incidence of centers of excellence be involved directly or through consulta- cancer and almost no evidence-based approaches to cancer tion in caring for patients with heritable DNA repair syn- surveillance in patients with DNA repair disorders.
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  • Sphingolipid Metabolism Diseases ⁎ Thomas Kolter, Konrad Sandhoff
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