Soonerstart Automatic Qualifying Syndromes and Conditions
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Soonerstart Automatic Qualifying Syndromes and Conditions 001
SoonerStart Automatic Qualifying Syndromes and Conditions 001 Abetalipoproteinemia 272.5 002 Acanthocytosis (see Abetalipoproteinemia) 272.5 003 Accutane, Fetal Effects of (see Fetal Retinoid Syndrome) 760.79 004 Acidemia, 2-Oxoglutaric 276.2 005 Acidemia, Glutaric I 277.8 006 Acidemia, Isovaleric 277.8 007 Acidemia, Methylmalonic 277.8 008 Acidemia, Propionic 277.8 009 Aciduria, 3-Methylglutaconic Type II 277.8 010 Aciduria, Argininosuccinic 270.6 011 Acoustic-Cervico-Oculo Syndrome (see Cervico-Oculo-Acoustic Syndrome) 759.89 012 Acrocephalopolysyndactyly Type II 759.89 013 Acrocephalosyndactyly Type I 755.55 014 Acrodysostosis 759.89 015 Acrofacial Dysostosis, Nager Type 756.0 016 Adams-Oliver Syndrome (see Limb and Scalp Defects, Adams-Oliver Type) 759.89 017 Adrenoleukodystrophy, Neonatal (see Cerebro-Hepato-Renal Syndrome) 759.89 018 Aglossia Congenita (see Hypoglossia-Hypodactylia) 759.89 019 Albinism, Ocular (includes Autosomal Recessive Type) 759.89 020 Albinism, Oculocutaneous, Brown Type (Type IV) 759.89 021 Albinism, Oculocutaneous, Tyrosinase Negative (Type IA) 759.89 022 Albinism, Oculocutaneous, Tyrosinase Positive (Type II) 759.89 023 Albinism, Oculocutaneous, Yellow Mutant (Type IB) 759.89 024 Albinism-Black Locks-Deafness 759.89 025 Albright Hereditary Osteodystrophy (see Parathyroid Hormone Resistance) 759.89 026 Alexander Disease 759.89 027 Alopecia - Mental Retardation 759.89 028 Alpers Disease 759.89 029 Alpha 1,4 - Glucosidase Deficiency (see Glycogenosis, Type IIA) 271.0 030 Alpha-L-Fucosidase Deficiency (see Fucosidosis) -
Understanding Fraser Syndrome
SPECIAL NEEDS // Features Synonyms of Fraser Syndrome • Cryptophthalmos- Syndactyly Syndrome • Cryptophthalmos Syndrome • Cyclopism • Fraser-Francois Syndrome • Meyer-Schwickerath’s Syndrome • Ulrich-Feichtiger Syndrome Understanding Fraser Syndrome A look at how Fraser Syndrome – a rare, non- development of the kidney), skeletal larynx. Lack of kidney function or blockage treatment are often required for those # Ophanet, a consortium of European sex linked genetic disorder – causes anomalies and mental delay. of the larynx is usually the cause of death for surviving Fraser Syndrome-affected children. partners, currently defines a condition rare a wide range of abnormalities, those who are stillborn or die within the first Thanks to advances in genetic counselling when it affects one person per 2,000. particularly vision loss. Associated Symptoms year of infancy. technologies, medical professionals Due to multiple malformations of different 25% of affected infants are stillborn, nowadays find it more effective in carrying * A pattern of inheritance in which both body organs, a child with Fraser Syndrome while 20% die before the age of one out the diagnosis, prenatal treatment and copies of an autosomal gene must be Compilation: Leonard Lau and Yvonne Tan; Photo: stock.xchange is likely to suffer from at least partial visual, year from renal or laryngeal defects. If management of Fraser Syndrome. abnormal for a genetic condition or disease hearing or speech impairment, among other these anomalies are not present, the life Ultrasonographic diagnosis of the to occur. An autosomal gene is a gene A very rare# genetic disorder occurring in Syndrome (the syndrome has a recurrence symptoms. expectancy is almost normal. -
Newborn Screening Laboratory Manual of Services
Newborn Screening Laboratory Manual of Services Test Panel: Please see the following links for a detailed description of testing in the Newborn Screening section. Information about the Newborn Screening program is available here. Endocrine Disorders Congenital adrenal hyperplasia (CAH) Congenital hypothyroidism (TSH) Hemoglobinopathies Sickle cell disease (FS) Alpha (Barts) Sickle βeta Thalassemia (FSA) Other sickling hemoglobinopathies such as: FAS FAC FAD FAE Homozygous conditions such as: FC FD FE Metabolic Disorders Biotinidase deficiency Galactosemia Cystic fibrosis (CF) first tier screening for elevated immunoreactive trypsinogen (IRT) Cystic fibrosis second tier genetic mutation analysis on the top 4% IRT concentrations. Current alleles detected : F508del, I507del, G542X, G85E, R117H, 621+1G->T, 711+1G->T, R334W, R347P, A455E, 1717-1G->A, R560T, R553X, G551D, 1898+1G->A, 2184delA, 2789+5G->A, 3120+1G->A, R1162X, 3659delC, 3849+10kbC->T, W1282X, N1303K, IVS polyT T5/T7/T9 *Currently validating a mutation panel that includes the above alleles in addition to the following: 1078delT, Y122X, 394delTT, R347H, M1101K, S1255X, 1898+5G->T, 2183AA->G, 2307insA, Y1092X, 3876delA, 3905insT, S549N, S549R_1645A->C, S549R-1647T->G, S549R-1647T->G, V520F, A559T, 1677delTA, 2055del9->A, 2143delT, 3199del6, 406-1G->A, 935delA, D1152H, CFTRdele2, E60X, G178R, G330X, K710X, L206W, Q493X, Q890X, R1066C, R1158X, R75X, S1196X, W1089X, G1244E, G1349D, G551S, R560KT, S1251N, S1255P Amino acid disorders Phenylketonuria (PKU) / Hyperphenylalaninemia Maple -
Sphingolipid Metabolism Diseases ⁎ Thomas Kolter, Konrad Sandhoff
View metadata, citation and similar papers at core.ac.uk brought to you by CORE provided by Elsevier - Publisher Connector Biochimica et Biophysica Acta 1758 (2006) 2057–2079 www.elsevier.com/locate/bbamem Review Sphingolipid metabolism diseases ⁎ Thomas Kolter, Konrad Sandhoff Kekulé-Institut für Organische Chemie und Biochemie der Universität, Gerhard-Domagk-Str. 1, D-53121 Bonn, Germany Received 23 December 2005; received in revised form 26 April 2006; accepted 23 May 2006 Available online 14 June 2006 Abstract Human diseases caused by alterations in the metabolism of sphingolipids or glycosphingolipids are mainly disorders of the degradation of these compounds. The sphingolipidoses are a group of monogenic inherited diseases caused by defects in the system of lysosomal sphingolipid degradation, with subsequent accumulation of non-degradable storage material in one or more organs. Most sphingolipidoses are associated with high mortality. Both, the ratio of substrate influx into the lysosomes and the reduced degradative capacity can be addressed by therapeutic approaches. In addition to symptomatic treatments, the current strategies for restoration of the reduced substrate degradation within the lysosome are enzyme replacement therapy (ERT), cell-mediated therapy (CMT) including bone marrow transplantation (BMT) and cell-mediated “cross correction”, gene therapy, and enzyme-enhancement therapy with chemical chaperones. The reduction of substrate influx into the lysosomes can be achieved by substrate reduction therapy. Patients suffering from the attenuated form (type 1) of Gaucher disease and from Fabry disease have been successfully treated with ERT. © 2006 Elsevier B.V. All rights reserved. Keywords: Ceramide; Lysosomal storage disease; Saposin; Sphingolipidose Contents 1. Sphingolipid structure, function and biosynthesis ..........................................2058 1.1. -
The Counsyl Foresight™ Carrier Screen
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............................................................................................................................................................................................................................................................. -
Abstracts from the 9Th Biennial Scientific Meeting of The
International Journal of Pediatric Endocrinology 2017, 2017(Suppl 1):15 DOI 10.1186/s13633-017-0054-x MEETING ABSTRACTS Open Access Abstracts from the 9th Biennial Scientific Meeting of the Asia Pacific Paediatric Endocrine Society (APPES) and the 50th Annual Meeting of the Japanese Society for Pediatric Endocrinology (JSPE) Tokyo, Japan. 17-20 November 2016 Published: 28 Dec 2017 PS1 Heritable forms of primary bone fragility in children typically lead to Fat fate and disease - from science to global policy a clinical diagnosis of either osteogenesis imperfecta (OI) or juvenile Peter Gluckman osteoporosis (JO). OI is usually caused by dominant mutations affect- Office of Chief Science Advsor to the Prime Minister ing one of the two genes that code for two collagen type I, but a re- International Journal of Pediatric Endocrinology 2017, 2017(Suppl 1):PS1 cessive form of OI is present in 5-10% of individuals with a clinical diagnosis of OI. Most of the involved genes code for proteins that Attempts to deal with the obesity epidemic based solely on adult be- play a role in the processing of collagen type I protein (BMP1, havioural change have been rather disappointing. Indeed the evidence CREB3L1, CRTAP, LEPRE1, P4HB, PPIB, FKBP10, PLOD2, SERPINF1, that biological, developmental and contextual factors are operating SERPINH1, SEC24D, SPARC, from the earliest stages in development and indeed across generations TMEM38B), or interfere with osteoblast function (SP7, WNT1). Specific is compelling. The marked individual differences in the sensitivity to the phenotypes are caused by mutations in SERPINF1 (recessive OI type obesogenic environment need to be understood at both the individual VI), P4HB (Cole-Carpenter syndrome) and SEC24D (‘Cole-Carpenter and population level. -
Cryptophthalmos Syndrome: a Case Report
Case Report Cryptophthalmos Syndrome: A Case Report Jawad Bin Yamin Butt, Tariq Mehmood Qureshi, Muhammad Tariq Khan, Anwar-ul-Haq Ahmad Pak J Ophthalmol 2014, Vol. 30 No.3 . .. .. See end of article for A 20 days female baby presented to us in OPD. She was the 4th child of normal authors affiliations parents with 3 normal siblings. She exhibited few features of cryptophthalmos which fit the criteria of Fraser syndrome. …..……………………….. Key words: Cryptophthalmos, Fraser syndrome, Eye lid defect. Correspondence to: Jawad Bin Yamin Butt Layton Benevolent Trust Hospital (LRBT), 436 A/I Township, Lahore …..……………………….. ryptophthalmos (CO) is defined as a set of rare CASE REPORT congenital eyelid defects in which the lid folds The patient is a 20 days old female. She is the 4th child C are unable to divide in the embryo and the of healthy parents. Her three older siblings are normal skin extends continuously from the forehead with no congenital malformation. The infant is full 1-3 onto the cheeks covering the eyes. CO maybe term and delivered by spontaneous vaginal delivery bilateral or unilateral and fluctuates in severity from which was eventless. The baby weighed 2900 grams at the presence of rudimentary, distorted eyelids to birth and exhibits normal feeding manner. complete absence of eyelids2. Autosomal recessive and autosomal dominant inheritance have been reported, Clinical evaluation exhibits complete absence of but most cases are autosomal recessive.4-8 right side eyelid formation with absent eyelashes. The skin is continuous from the forehead to the cheek, CO is of three clinical types: covering the entire globe. -
Glutaric Acidemia Type 1
Glutaric acidemia type 1 What is glutaric acidemia type 1? Glutaric acidemia type 1 is an inherited disease characterized by episodes of severe brain dysfunction that result in spasticity, low muscle tone, and seizures.1,2 Individuals with glutaric acidemia type 1 have defects in the glutaryl-CoA dehydrogenase enzyme, which breaks down the amino acids lysine, hydroxylysine, and tryptophan. The symptoms of glutaric acidemia type 1 are due to the build-up of these amino acids and their metabolites in the body, primarily affecting the brain.1 Glutaric acidemia type 1 is also known as glutaric aciduria type 1.2 What are the symptoms of glutaric acidemia type 1 and what treatment is available? The severity of symptoms of glutaric acidemia type 1 can vary widely, even within families. Newborns may have macrocephaly (large head size) with no other signs or symptoms. Symptoms typically begin within months after birth and are often triggered by illness or fasting. Symptoms may include2: • Hypotonia (low muscle tone) • Feeding difficulties • Poor growth • Swelling of the brain • Spasticity (abnormally tight muscles) • Dystonia (sustained muscle contractions causing twisting movements and abnormal posture) • Seizures • Developmental delays • Coma, and possibly death, especially if untreated Individuals tend to have a reduced life expectancy. Approximately 10% of individuals die within the first decade; more than half do not survive past 35 years of age. 3 There is no cure for glutaric acidemia type 1, and treatment is aimed at preventing episodes of brain dysfunction and seizures. Treatment generally includes a low protein diet and nutrition supplements, and a feeding tube may be required for some individuals. -
Practitioners' Section
407 408 GENETICS OF MENTAL RETARDATION [2] [4] PRACTITIONERS’ SECTION epiphenomena. A specific cause for mental a group heritability of 0.49. The aetiology of retardation can be identified in approximately idiopathic mental retardation is usually 80% of people with SMR (IQ<50) and 50% of explained in terms of the ‘polygenic GENETICS OF MENTAL RETARDATION people with MMR (IQ 50–70). multifactorial model.’ The difficulty is that there A. S. AHUJA, ANITA THAPAR, M. J. OWEN are too few studies to provide sufficiently In this article, we will begin by considering precise estimates of the likely role of genes ABSTRACT what is known about the genetics of idiopathic and environment in determining idiopathic mental retardation and then move onto discuss mental retardation. Given the dearth of Mental retardation can follow any of the biological, environmental and psychological events that are capable of producing deficits in cognitive functions. specific genetic causes of mental retardation. published literature we are reliant on Recent advances in molecular genetic techniques have enabled us to understand attempting to draw conclusions from family and more about the molecular basis of several genetic syndromes associated with mental Search methodology twin studies, most of which are very old and retardation. In contrast, where there is no discrete cause, the interplay of genetic Electronic searching was done and the which report widely varying recurrence risks.[5] and environmental influences remains poorly understood. This article presents a relevant studies were identified by searching Recent studies of MMR have shown high rates critical review of literature on genetics of mental retardation. -
Genetic Ablation of Acid Ceramidase in Krabbe Disease Confirms the Psychosine Hypothesis and Identifies a New Therapeutic Target
Genetic ablation of acid ceramidase in Krabbe disease confirms the psychosine hypothesis and identifies a new therapeutic target Yedda Lia, Yue Xub, Bruno A. Beniteza, Murtaza S. Nagreec, Joshua T. Dearborna, Xuntian Jianga, Miguel A. Guzmand, Josh C. Woloszynekb, Alex Giaramitab, Bryan K. Yipb, Joseph Elsberndb, Michael C. Babcockb, Melanie Lob, Stephen C. Fowlere, David F. Wozniakf, Carole A. Voglerd, Jeffrey A. Medinc,g, Brett E. Crawfordb, and Mark S. Sandsa,h,1 aDepartment of Medicine, Washington University School of Medicine, St. Louis, MO 63110; bDepartment of Research, BioMarin Pharmaceutical Inc., Novato, CA 94949; cDepartment of Medical Biophysics, University of Toronto, Toronto, ON M5S, Canada; dDepartment of Pathology, St. Louis University School of Medicine, St. Louis, MO 63104; eDepartment of Pharmacology and Toxicology, University of Kansas, Lawrence, KS 66045; fDepartment of Psychiatry, Washington University School of Medicine, St. Louis, MO 63110; gPediatrics and Biochemistry, Medical College of Wisconsin, Milwaukee, WI 53226; and hDepartment of Genetics, Washington University School of Medicine, St. Louis, MO 63110 Edited by William S. Sly, Saint Louis University School of Medicine, St. Louis, MO, and approved August 16, 2019 (received for review July 15, 2019) Infantile globoid cell leukodystrophy (GLD, Krabbe disease) is a generated catabolically through the deacylation of galactosylceramide fatal demyelinating disorder caused by a deficiency in the lyso- by acid ceramidase (ACDase). This effectively dissociates GALC somal enzyme galactosylceramidase (GALC). GALC deficiency leads deficiency from psychosine accumulation, allowing us to test the to the accumulation of the cytotoxic glycolipid, galactosylsphingosine long-standing psychosine hypothesis. We demonstrate that genetic (psychosine). Complementary evidence suggested that psychosine loss of ACDase activity [Farber disease (FD) (8)] in the twitcher is synthesized via an anabolic pathway. -
Circle Applicable Codes
IDENTIFYING INFORMATION (please print legibly) Individual’s Name: DOB: Last 4 Digits of Social Security #: CIRCLE APPLICABLE CODES ICD-10 ICD-10 ICD-9 DIAGNOSTIC ICD-9 DIAGNOSTIC PRIMARY ICD-9 CODES CODE CODE PRIMARY ICD-9 CODES CODE CODE Abetalipoproteinemia 272.5 E78.6 Hallervorden-Spatz Syndrome 333.0 G23.0 Acrocephalosyndactyly (Apert’s Syndrome) 755.55 Q87.0 Head Injury, unspecified – Age of onset: 959.01 S09.90XA Adrenaleukodystrophy 277.86 E71.529 Hemiplegia, unspecified 342.9 G81.90 Arginase Deficiency 270.6 E72.21 Holoprosencephaly 742.2 Q04.2 Agenesis of the Corpus Callosum 742.2 Q04.3 Homocystinuria 270.4 E72.11 Agenesis of Septum Pellucidum 742.2 Q04.3 Huntington’s Chorea 333.4 G10 Argyria/Pachygyria/Microgyria 742.2 Q04.3 Hurler’s Syndrome 277.5 E76.01 or 758.33 Aicardi Syndrome 333 G23.8 Hyperammonemia Syndrome 270.6 E72.4 Alcohol Embryo and Fetopathy 760.71 F84.5 I-Cell Disease 272.2 E77.0 Anencephaly 655.0 Q00.0 Idiopathic Torsion Dystonia 333.6 G24.1 Angelman Syndrome 759.89 Q93.5 Incontinentia Pigmenti 757.33 Q82.3 Asperger Syndrome 299.8 F84.5 Infantile Cerebral Palsy, unspecified 343.9 G80.9 Ataxia-Telangiectasia 334.8 G11.3 Intractable Seizure Disorder 345.1 G40.309 Autistic Disorder (Childhood Autism, Infantile 299.0 F84.0 Klinefelter’s Syndrome 758.7 Q98.4 Psychosis, Kanner’s Syndrome) Biotinidase Deficiency 277.6 D84.1 Krabbe Disease 333.0 E75.23 Canavan Disease 330.0 E75.29 Kugelberg-Welander Disease 335.11 G12.1 Carpenter Syndrome 759.89 Q87.0 Larsen’s Syndrome 755.8 Q74.8 Cerebral Palsy, unspecified 343.69 G80.9 -
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.............................................................................................................................................................................................................................................................