Symptoma

Metaphyseal Chondromatosis with D-2-Hydroxyglutaric Aciduria

Metaphyseal Enchondromatosis with D-2-Hydroxyglutaric Aciduria

Abstract We report four patients who presented with a severe form of metaphyseal chondromatosis in association with D-2-hydroxyglutaric aciduria (D-2-HGA). [ncbi.nlm.nih.gov]

Thus, our report will facilitate the recognition of this distinctive entity, and we suggest that a urine organic acid screening be obtained in patients who present with generalized enchondromatosis. [link.springer.com]

Full-color medical illustrations present key anatomic details in a clear manner. Thousands of digital-quality images depict the complete range of normal and abnormal imaging presentations. [books.google.ro]

Patients typically present clinical symptoms between the ages of… Continue Reading BridgeBio Pharma Raises 299 Million January 23, 2019 By Daniel S. [globalgenes.org]

  • Gaucher Disease

    She is chair of the "Erfocentrum" board, treasurer of the European Study Group on Lysosomal Diseases, and involved in activities of the European Working Group on Gaucher Disease and the Adult Metabolic Group for the Society for the Study of Inborn Errors [books.google.com]

    Gaucher Disease October 15, 2018 by Peter Ciszewski Gaucher disease (GD) is a genetic disorder in which glucocerebroside (a sphingolipid, also known as glucosylceramide) accumulates in cells and certain organs. [checkrare.com]

    disease) gene analysis, common variants (eg, N370S, 84GG, L444P, IVS2 1G A) 81252 GJB2 (gap junction protein, beta 2, 26kDa, connexin 26) (eg, nonsyndromic hearing loss) gene analysis; full gene sequence 81253 GJB2 (gap junction protein, beta 2, 26kDa [unicare.com]

  • Dyspnea

    Hemangiomas at the larynx had caused dyspnea and those in the oral cavity led to recurrent bleeding, requiring several surgical removals. These multiple and debilitating hemangiomas have never been previously reported in patients with MC-HGA. [ncbi.nlm.nih.gov]

  • Skeletal Dysplasia

    Adresse Birmingham, United Kingdom, September 4-7, 2012 Série Journal of Inherited Metabolic Diseases Notes Document Type:Meeting Abstract Résumé Metaphyseal chondromatosis with hydroxyglutaric aciduria (MC-HGA) is a generalized skeletal dysplasia, accompanied [serval.unil.ch]

    Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunicty. Nat Genet. 2011;43:132–7. PubMed CrossRef Google Scholar 13. [link.springer.com]

    New topics in the skeletal dysplasias. Am J Med Genet C Semin Med Genet 2012 Aug 12;160C(3):143-4. Epub 2012 Jul 12. Department of Genetics, University of Lausanne, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland. [pubfacts.com]

    Since the publication of the second edition on Bone Dysplasias ten years ago, there has been an explosion of knowledge about skeletal dysplasias. [kriso.ee]

    Scott A Newly Recognized Syndrome With Characteristic Facial Features, Skeletal Dysplasia, and Developmental Delay Download onlinelibrary.wiley.com Steven H. Abman, Amina Ahmed, Marilee C. Allen, David Askenazi, Stephen A. Back, H. [dissem.in]

  • Platyspondyly

    The vertebral bodies revealed platyspondyly with irregular, stippled endplates. D-2-HGA has been described as a neurometabolic disorder manifesting a broad range of impairment in mental and motor development. [ncbi.nlm.nih.gov]

  • Pierre Robin Syndrome

    Robin Syndrome PIGN Mutation Pitt Hopkins syndrome (PTHS) Pituitary Conditions Poland Syndrome Polycystic Kidney Disease Polycythaemia Polymicrogyria (PMG) Polyostotic Fibrous Dysplasia Pompe Disease Pontine Tegmental Cap Dysplasia Popliteal Pterygium [geneticalliance.org.au]

    Robin syndrome Intellectual disability-cataracts-calcified pinnae-myopathy syndrome Intellectual disability-cataracts-kyphosis syndrome Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome Intellectual disability-craniofacial [se-atlas.de]

  • Suggestibility

    Thus, our report will facilitate the recognition of this distinctive entity, and we suggest that a urine organic acid screening be obtained in patients who present with generalized enchondromatosis. [ncbi.nlm.nih.gov]

    Mutations affecting Arg-132 are tissue-specific, and suggest that this residue plays a unique role in the development of high-grade gliomas. [genecards.org]

    This gene had only been associated with autosomal recessive RP; finding that it acts in dominant fashion suggests previously unknown routes of disease pathogenesis and new therapeutic possibilities. [massgenomics.org]

  • Spastic Paraplegia

    Behavioral variant of frontotemporal dementia Estrogen resistance syndrome Idiopathic aplastic anemia Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Progressive non-fluent aphasia Semantic dementia Shwachman-Diamond syndrome Spastic [csbg.cnb.csic.es]

    paraplegia-Paget disease of bone syndrome Spastic paraplegia-epilepsy-intellectual disability syndrome Spastic paraplegia-glaucoma-intellectual disability syndrome Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome Splenogonadal [se-atlas.de]

    Paraplegia 4 Deletion and duplication analysis; Sequencing of all coding exons of the gene - - 1.9 SPATA5 Epilepsy, hearing loss and mental retardation syndrome Sequencing of all coding exons of the gene - - 2.7 SPG11 Spastic paraplegia 11 Sequencing [cegat.de]

    Paraplegia Hereditary Spherocytosis Hermansky Pudlak Syndrome Het Werner Syndrome Hexokinase Deficiency Hirschsprung Disease Holoprosencephaly Holt Oram Syndrome Holt-Oram Syndrome Homocystinuria Homolateral Brain Syndrome Horner's syndrome Hunter Syndrome [geneticalliance.org.au]

  • Cerebral Calcification

    Keywords IDH1 Mutation Tubular Bone Cerebral Calcification Urine Organic Acid Analysis Neurometabolic Disorder These keywords were added by machine and not by the authors. [link.springer.com]

  • Aphasia

    […] to VCP mutation Amyotrophic lateral sclerosis Behavioral variant of frontotemporal dementia Estrogen resistance syndrome Idiopathic aplastic anemia Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Progressive non-fluent aphasia [csbg.cnb.csic.es]

The authors concluded that including the GES into the diagnostic workup demonstrated clinical utility above and beyond conventional clinical factors by optimizing the individual’s diagnostic evaluation. [unicare.com]

Food and Drug Administration has chosen Wave Life Sciences’ planned phase 2/3 study of suvodirsen, its lead experimental therapy for the treatment of Duchenne muscular dystrophy, to break new ground. [globalgenes.org]

- Comparison Between Buddy Taping With a Short-Arm Splint and Operative Treatment for Phalangeal Neck Fractures in Children. Park KB, Lee KJ, Kwak YH. [severancepedos.or.kr]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

However, knowledge of this entity will help make the final diagnosis and guide the correct treatment. [ncbi.nlm.nih.gov]

[…] its skeletal manifestation Announcements J Hum Genet, 61, 561-4 Date of publication 2016 Co-researcher Ko JM, Jung S, Seo J, Shin CH, Cheong HI, Choi M, Kim OH and Cho TJ Education / Career Article Foot and Ankle Function at Maturity After Ilizarov Treatment [snuh.org]

IDH2 mutations have been associated with improved prognosis in gliomas. Plays a role in intermediary metabolism and energy production. It may tightly associate or interact with the pyruvate dehydrogenase complex. [genecards.org]

Guide diagnosis, prognosis and treatment options, including response to therapies, in symptomatic individuals. [unicare.com]

They are organised into groups, and further divided into clinical, etiological or histopathological sub-types. [orpha.net]

Manifestations of Type I Camurati-Engelmann Disease Announcements Clin Orthop Surg, 9, 109-115 Date of publication 2017 Co-researcher Yuldashev AJ, Shin CH, Kim YS, Jang WY, Park MS, Chae JH, Yoo WJ, Choi IH, Kim OH and Cho TJ Education / Career Article The Etiology [snuh.org]

The ACMG indicates that diagnostic testing using whole genome or WES is indicated for the following phenotypically affected individuals: The phenotype or family history data strongly implicate a genetic etiology, but the phenotype does not correspond [medicalpolicies.amerigroup.com]

The ACMG states that clinical diagnostic testing using whole genome or WES is indicated for the following phenotypically affected individuals: The phenotype or family history data strongly implicate a genetic etiology, but the phenotype does not correspond [unicare.com]

[…] adrenoleukodystrophy Reticular dysgenesis Zellweger syndrome Synonym(s): (no synonyms) Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease Classification (ICD10): (no data available) Epidemiological [csbg.cnb.csic.es]

Relevant External Links for IDH1 Genetic Association Database (GAD) IDH1 Human Genome Epidemiology (HuGE) Navigator IDH1 Atlas of Genetics and Cytogenetics in Oncology and Haematology: IDH1 No data available for Genatlas for IDH1 Gene Distinct clinical [genecards.org]

These data should not be ignored in genetic epidemiology studies. [bmcgenomics.biomedcentral.com]

American Heart Association Council on Epidemiology and Prevention; American Heart Association Stroke Council; Functional Genomics and Translational Biology Interdisciplinary Working Group. [unicare.com]

The postulated pathophysiology ofMC-HGA points out the link between Krebs cycle, hypoxia sensing and bone growth. Création de la notice 14/02/2014 18:23 Dernière modification de la notice 03/03/2018 20:30 Données d'usage [serval.unil.ch]

The accumulating acyl-CoA compounds are esterified with free carnitine to prevent sequestration of CoA, resulting in a diagnostically and pathophysiologically important increase of acylcarnitines. [accesspediatrics.mhmedical.com]

The gastroenteropathy of Patient 11 maynot be related to the D-2-hydroxyglutaric aciduria.The pathophysiology of the clinical symptomatologyin D-2-hydroxyglutaric aciduria is not known. [docslide.com.br]

The molecular pathophysiology of pseudoexfoliation glaucoma. Curr Opin Ophthalmol. 2008; 19(2):95-101. Lettre G, Rioux JD. Autoimmune diseases: insights from genome-wide association studies. Hum Mol Genet. 2008; 17(R2):R116-121. [unicare.com]

The accumulating acyl-CoA compounds are esterified with free carnitine to prevent sequestration of CoA, resulting in a diagnostically and pathophysiologically important increase of acylcarnitines. [accesspediatrics.mhmedical.com]

Relevance of genetics and genomics for prevention and treatment of cardiovascular disease: a scientific statement from the American Heart Association Council on Epidemiology and Prevention, the Stroke Council, and the Functional Genomics and Translational [unicare.com]

It has been theorized that WGS might eventually improve clinical outcomes by preventing the development of disease. [medicalpolicies.amerigroup.com]

Clinicalcourse, early diagnosis, treatment and prevention of disease inglutaryl-CoA dehydrogenase deficiency. Neuropediatrics 1996;27:11512337. Rademaker KJ, de Vries LS, Barth PG. [docslide.com.br]