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marinesco-sjogren syndrome - rare genetic disorder causing problems with coordination Definition for Marinesco-Sjogren Syndrome Marinesco-Sjogren syndrome (MSS) is a rare autosomal recessive disorder.It causes cerebellar ataxia (balance and coordination problems), cataracts in early childhood, and muscle weakness. Small stature, mild to severe mental retardation and dysarthria (slow, imprecise speech) are usually present. some common symptoms delayed development not gaining weight weakness some related diagnoses 1 - 7 of 14 diagnoses Hartnup disease human immunodeficiency virus infections malnutrition hydrocephalus common variable immunodeficiency fetal alcohol syndrome renal osteodystrophy   more do i have 'Marinesco-Sjogren Syndrome'? In addition the following diagnostic tests might be need to help verify the diagnosis: diagnostic test search results for 'marinesco-sjogren syndrome' 1 - 5 of 6 diagnostic tests Molecular Genetic Studies Marinesco-Sjogren Syndrome and Molecular Genetic Studies Muscle biopsy Marinesco-Sjogren Syndrome and Muscle biopsy Brain MRI Marinesco-Sjogren Syndrome and Brain MRI Electron Microscopy Marinesco-Sjogren Syndrome and Electron Microscopy Comprehensive eye exam Marinesco-Sjogren Syndrome and Comprehensive eye exam Developmental testing Marinesco-Sjogren Syndrome and Developmental testing for more please login, login is free (click to login) therapeutic procedures for 'Marinesco-Sjogren Syndrome'? Managing or treating a diseases should always be determined by a patients health care provider. Below is a list of associated therapeutic procedures or medications for Marinesco-Sjogren Syndrome: therapeutic procedure search results for 'marinesco-sjogren syndrome' rankings are computer generated. please consult your health care provider. medications search results for 'marinesco-sjogren syndrome' 1 - 1 of 1 medications rankings are computer generated. please consult your health care provider.   Hormone replacement therapy Marinesco-Sjogren Syndrome and Hormone replacement therapy web search results for marinesco-sjogren syndrome Web (All)  |  Treatment  |  Drugs  |  Tests  |  Research  |  Diet Results 1 - 50 - Marinesco-Sjogren Syndrome Marinesco-Sjogren syndrome - Wikipedia, the free encyclopedia Marinesco-Sjogren syndrome (MSS) is a rare autosomal recessive disorder. Contents ... Marinesco-Sjogren Syndrome Support Group ... http://en.wikipedia.org/wiki/Marinesco-Sjogren_syndrome   en.wikipedia.org - summary Marinesco-Sjogren Syndrome - Yahoo! Health Marinesco-Sjogren Syndrome Support Group. National network. Founded 2000. ... for families affected by Marinesco-Sjogren syndrome (MSS) a rare, genetic ... http://health.yahoo.com/other-other/marinesco-sjogren-syndro...   health.yahoo.com - summary Marinesco-Sjögren Syndrome -- GeneReviews -- NCBI Bookshelf ... Genomic Databases for Marinesco-Sjogren Syndrome. Gene Symbol. Entrez ... The gene disrupted in Marinesco-Sjogren syndrome encodes SIL1, an HSPA5 cochaperone. ... http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mss   www.ncbi.nlm.nih.gov - summary Congenital cataract Conradi syndrome. Down syndrome (trisomy 21) Ectodermal ... Hallerman-Streiff syndrome. Lowe syndrome. Marinesco-Sjogren syndrome. Pierre-Robin syndrome ... http://adam.about.com/encyclopedia/infectiousdiseases/Congenital-cataract.htm   adam.about.com - summary MedlinePlus Medical Encyclopedia: Congenital cataract Chondrodysplasia syndrome. Congenital rubella syndrome. Down syndrome (trisomy 21) ... Conradi syndrome. Ectodermal dysplasia syndrome. Marinesco-Sjogren syndrome ... http://www.nlm.nih.gov/medlineplus/ency/article/001615.htm   www.nlm.nih.gov - summary WebMD Health A-Z - Find reliable health and medical information on ... Marinesco-Sjogren Syndrome-Myopathy. Marinesco-Sjogren Syndrome-Neuropathy. Marinesco-Sjogren-Garland Syndrome. Marker X Syndrome. Maroteaux Lamy Syndrome ... http://www.webmd.com/a-to-z-guides/health-topics/ma-me.htm   www.webmd.com - summary Marinesco-Sjögren Syndrome ... disrupted in Marinesco-Sjogren syndrome encodes SIL1, an ... J, Ebinger F, Zerres K. Mutations in SIL1 cause Marinesco-Sjogren syndrome, a cerebellar ataxia ... http://www.ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?book=ge...   www.ncbi.nlm.nih.gov - summary Marinesco-Sjögren syndrome - Genetics Home Reference People with Marinesco-Sjögren syndrome have clouding of the lens of ... Gene Review: Marinesco-Sjögren Syndrome. MedlinePlus Encyclopedia: Congenital cataract ... http://ghr.nlm.nih.gov/condition=marinescosjogrensyndrome   ghr.nlm.nih.gov - summary WebMD Health A-Z - Find reliable health and medical information on ... Find a comprehensive index of trusted health and medical information. It is your ultimate guide to reliable health ... Marinesco-Sjogren Syndrome. Myopathy ... http://www.webmd.com/a-to-z-guides/health-topics/mu-mz.htm   www.webmd.com - summary AceView: gene:SIL1, a comprehensive annotation of human, mouse and worm ... Mutations in this gene have been associated with Marinesco-Sjogren syndrome. ... to diseases (Cataract; Cerebellar ataxia; marinesco-sjogren syndrome; mss; ... http://www.ncbi.nlm.nih.gov/IEB/Research/Acembly/av.cgi?db=human&term=SIL1   www.ncbi.nlm.nih.gov - summary NLM Classification Index M Marinesco-Sjogren Syndrome see Spinocerebellar Degenerations ... Meningococcal Hemorrhagic Adrenalitis see Waterhouse-Friderichsen Syndrome ... http://www.nlm.nih.gov/class/index_m.html   www.nlm.nih.gov - summary [On a heredo-familial disease combining cataract, optic atrophy ... 1: Rev Neurol (Paris). 1961 May;104:373-9. ... to the Behr's syndrome, the Marinesco-Sjogren syndrome and Friedreich's disease ... http://www.ncbi.nlm.nih.gov/pubmed/13703570   www.ncbi.nlm.nih.gov - summary Encyclopedia M-Mz on Yahoo! Health Health encyclopedia of diseases and conditions covering symptoms, definitions, alternative names, causes, ... Marinesco Sjogren Syndrome. Marinesco-Sjogren ... http://health.yahoo.com/ency/m/   health.yahoo.com - summary Orphanet: Cataract nephropathy encephalopathy ... be compatible with Marinesco-Sjögren syndrome or Lowe syndrome, but none of ... an X-linked recessive trait; Marinesco-Sjogren as an autosomal recessive trait, ... http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1380   www.orpha.net - summary OMIM Update List for April, 2003 607692 CHYLOMICRON RETENTION DISEASE WITH MARINESCO-SJOGREN SYNDROME ... 248800 MARINESCO-SJOGREN SYNDROME; MSS. 249100 FAMILIAL MEDITERRANEAN FEVER; FMF ... http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?4.2003   www.ncbi.nlm.nih.gov - summary emailAFriend Marinesco Sjogren Syndrome * Indicates required fields. From: Your Name:* Your Email Address: ... Clicking the send button signifies that you have read and ... http://www.webmd.com/email_friend?chronicID=091e9c5e8001edcd   www.webmd.com - summary MIM Gene map The OMIM Gene map presents the cytogenetic map location of disease genes and ... Marinesco-Sjogren syndrome, 248800 (3) R, REc, Fd. 5q31. SKP1A, TCEB1L, OCP2 ... http://www.ncbi.nlm.nih.gov/Omim/getmap.cgi?l248800   www.ncbi.nlm.nih.gov - summary MIM Morbid map Marfan syndrome, atypical (3) COL1A2. 120160. 7q22.1. Marinesco-Sjogren syndrome, 248800 (3) SIL1, BAP, MSS. 608005. 5q31 ... Marshall syndrome, 154780 (3) ... http://www.ncbi.nlm.nih.gov/Omim/getmorbid.cgi?start=2392   www.ncbi.nlm.nih.gov - summary MIM Morbid map Marfan syndrome, atypical (3) COL1A2. 120160. 7q22.1. Marinesco-Sjogren syndrome, 248800 (3) SIL1, BAP, MSS. 608005. 5q31 ... Marshall syndrome, 154780 (3) ... http://www.ncbi.nlm.nih.gov/Omim/getmorbid.cgi?start=2435   www.ncbi.nlm.nih.gov - summary MIM Morbid map Marfan syndrome, atypical (3) COL1A2. 120160. 7q22.1. Marinesco-Sjogren syndrome, 248800 (3) ... Meckel syndrome type 4, 611134 (3) CEP290, KIAA0373, 3H11AG, ... http://www.ncbi.nlm.nih.gov/Omim/getmorbid.cgi?start=2446   www.ncbi.nlm.nih.gov - summary Orphanet: Syndrome de Marinesco Sjogren Le portail des maladies rares et des médicaments orphelins ... Syndrome de Marinesco-Sjogren. Numéro Orphanet. ORPHA559. Prévalence des maladies rares ... http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=559   www.orpha.net - summary Health Library - Avera Health Conradi syndrome. Down syndrome (trisomy 21) Ectodermal ... Hallerman-Streiff syndrome. Lowe syndrome. Marinesco-Sjogren syndrome. Pierre-Robin syndrome ... http://averaorg.adam.com/content.aspx?productId=101&pid=1&gid=001615   averaorg.adam.com - summary : Mercy Adam Content : Conradi syndrome. Down syndrome (trisomy 21) Ectodermal ... Hallerman-Streiff syndrome. Lowe syndrome. Marinesco-Sjogren syndrome. Pierre-Robin syndrome ... http://mercycanton3.adam.com/content.aspx?productId=101&pid=1&gid=001615   mercycanton3.adam.com - summary Norton - ADAM Search ... Conradi syndrome. Down syndrome (trisomy 21) Ectodermal ... syndrome. Lowe syndrome. Marinesco-Sjogren syndrome. Pierre-Robin syndrome ... http://nortonhealthcare.adam.com/content.aspx?productId=112&pid=1&gid=001615   nortonhealthcare.adam.com - summary Health Information A member of SSM Health Care. Body, Mind, Spirit... We care for ... Hallerman-Streiff syndrome. Lowe syndrome. Marinesco-Sjogren syndrome. Pierre-Robin syndrome ... http://ssmhealth.adam.com/content.aspx?pid=1&gid=001615   ssmhealth.adam.com - summary Adam Conradi syndrome. Down syndrome (trisomy 21) Ectodermal ... Hallerman-Streiff syndrome. Lowe syndrome. Marinesco-Sjogren syndrome. Pierre-Robin syndrome ... http://stvhs.adam.com/content.aspx?productId=101&pid=1&gid=001615   stvhs.adam.com - summary Congenital cataract Conradi syndrome. Down syndrome (trisomy 21) Ectodermal ... Hallerman-Streiff syndrome. Lowe syndrome. Marinesco-Sjogren syndrome. Pierre-Robin syndrome ... http://symptomnav.adam.com/content.aspx?productId=101&pid=1&gid=001615   symptomnav.adam.com - summary SIL1 - NextBio null: This gene encodes a resident endoplasmic reticulum (ER), N-linked glycoprotein with an N-terminal ER targeting ... with Marinesco-Sjogren syndrome. ... http://www.nextbio.com/b/home/home.nb?id=66295&type=feature   www.nextbio.com - summary OMIM Update List for November, 2003 248800 MARINESCO-SJOGREN SYNDROME; MSS ... 248800 MARINESCO-SJOGREN SYNDROME; MSS. 253260 BIOTINIDASE; BTD. 256000 LEIGH SYNDROME; LS ... http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?11.2003   www.ncbi.nlm.nih.gov - summary Congenital cataract Conradi syndrome. Ectodermal dysplasia syndrome. Marinesco-Sjogren syndrome ... Cushing's Syndrome -- Part of the Endocrine Resource Center -- From the... http://adam.about.com/HIE/001615.htm   adam.about.com - summary OMIM Update List for March, 2001 ... LONG QT SYNDROME 1. 203200 OCULOCUTANEOUS ... 248800 MARINESCO-SJOGREN SYNDROME; MSS. 253220 MUCOPOLYSACCHARIDOSIS TYPE VII. 270200 SJOGREN-LARSSON SYNDROME ... http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?3.2001   www.ncbi.nlm.nih.gov - summary Cleveland Clinic Reference Laboratory - Test Detail ... DNA Sequencing (Marinesco-Sjogren Syndrome); TTPA DNA ... SIL1 DNA Sequencing (Marinesco-Sjogren Syndrome):  Range: No sequence variations detected ... http://referencelab.clevelandclinic.org/DBSearch/TestDetail.asp?ID=2556   referencelab.clevelandclinic.org - summary OMIM Update List for May, 2004 308240 LYMPHOPROLIFERATIVE SYNDROME, X-LINKED ... 248800 MARINESCO-SJOGREN SYNDROME; MSS ... Clinical Synopsis for 122470 CORNELIA DE LANGE SYNDROME 1; CDL1 ... http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?5.2004   www.ncbi.nlm.nih.gov - summary OMIM Update List for August, 2008 248800 MARINESCO-SJOGREN SYNDROME; MSS. 253300 SPINAL MUSCULAR ATROPHY, TYPE I; SMA1 ... 272460 SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME ... http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?8.2008   www.ncbi.nlm.nih.gov - summary Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Juin 2006 ... danlos 13 0.03% syndrome de gougerot sjogren 13 0.03% xantinuria 12 0.03 ... 0.02% sirenomelia 9 0.02% sjogren 9 0.02% slo syndrome 9 0.02% spondylis 9 0.02 ... http://www.orpha.net/stat/orphanet/search_200606.html   www.orpha.net - summary Karl Sjögren - Wikipedia, the free encyclopedia Marinesco-Sjogren syndrome is also named for him. ... not be confused with Henrik Sjögren, for whom Sjögren's syndrome is named. ... SJOGREN T, LARSSON T (1957) ... http://en.wikipedia.org/wiki/Karl_Sj%C3%B6gren   en.wikipedia.org - summary MIM Morbid map Marfan syndrome, atypical (3) COL1A2. 120160. 7q22.1. Marinesco-Sjogren syndrome, 248800 (3) SIL1, ... Maroteaux-Lamy syndrome, several forms, 253200 (3) ARSB, ... http://www.ncbi.nlm.nih.gov/Omim/getmorbid.cgi?start=2429   www.ncbi.nlm.nih.gov - summary Friedreich Ataxia -- GeneReviews -- NCBI Bookshelf Marinesco-Sjogren syndrome (cerebellar ataxia, cataracts, mental retardation, ... Deafness-dystonia-optic neuropathy syndrome ... http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=friedreich   www.ncbi.nlm.nih.gov - summary Friedreich Ataxia Behr syndrome (spasticity, ataxia, optic atrophy, and mental retardation) ... Marinesco-Sjogren syndrome (cerebellar ataxia, cataracts, mental retardation, short ... http://www.ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?book=ge...   www.ncbi.nlm.nih.gov - summary Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Novembre ... ... gougerot sjogren 7 0.01% syndrome néphrotique 7 0.01% síndrome ... mano hendida 4 0.01% marinesco-sjogren 4 0.01% medicaments antidepresivos 4 ... http://www.orpha.net/stat/orphanet/search_200611.html   www.orpha.net - summary Files Previously Added, Updated, or Revised Genetics Home Reference: Wiskott-Aldrich syndrome (12/17/08) ... Genetics Home Reference: Marinesco-Sjogren syndrome (10/06/08) ... http://www.nlm.nih.gov/news/new_files2008.html   www.nlm.nih.gov - summary List of diseases (M) - Wikipedia, the free encyclopedia Marashi Gorlin syndrome. Marburg fever. Marchiafava Bignami disease ... Marinesco Sjogren like syndrome. Marinesco-Sjogren syndrome. Marion Mayers syndrome ... http://en.wikipedia.org/wiki/List_of_diseases_(M)   en.wikipedia.org - summary 248800 http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=248800   www.ncbi.nlm.nih.gov - summary Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Janvier ... ... antiphospholipides 9 0.02% syndrome gougerot sjogren 9 0.02% síndrome ... malformation cardiaque 4 0.01% mansonellosis 4 0.01% marinesco sjogren syndrome ... http://www.orpha.net/stat/orphanet/search_200701.html   www.orpha.net - summary OMIM Update List for December, 2005 270200 SJOGREN-LARSSON SYNDROME; SLS. 312080 PELIZAEUS-MERZBACHER DISEASE; PMD ... 248800 MARINESCO-SJOGREN SYNDROME; MSS. 275000 GRAVES DISEASE ... http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?12.2005   www.ncbi.nlm.nih.gov - summary Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Fevrier ... ... pfeiffer 20 0.03% syndrome de gougerot sjogren 19 0.03% albinismo ocular ... de kartagener 13 0.02% syndrome de sjogren 13 0.02% síndrome de klinefelter ... http://www.orpha.net/stat/orphanet/search_200702.html   www.orpha.net - summary OMIM Update List for February, 2003 248800 MARINESCO-SJOGREN SYNDROME; MSS. 600354 SURVIVAL OF MOTOR NEURON 1, TELOMERIC; SMN1 ... 109092 SJOGREN SYNDROME ANTIGEN A1; SSA1. 126200 MULTIPLE ... http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?2.2003   www.ncbi.nlm.nih.gov - summary Marinesco Sjogren Syndrome - Yahoo! Health Important It is possible that the main title of the report Marinesco Sjogren Syndrome is not the name you expected. Please check the synonyms listing to find the ... http://health.yahoo.com/children-resources/marinesco-sjogren...   health.yahoo.com - summary OMIM Update List for March, 2005 148210 KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT. 153450 LYSOZYME; LYZ. 248800 MARINESCO-SJOGREN SYNDROME; MSS. 300016 MELANOMA ANTIGEN, FAMILY A, ... http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?3.2005   www.ncbi.nlm.nih.gov - summary SIL1 - Wikipedia, the free encyclopedia Mutations in this gene have been associated with Marinesco-Sjogren syndrome. ... The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone. ... http://en.wikipedia.org/wiki/SIL1   en.wikipedia.org - summary show more 1  2