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Usher Syndrome Type 1H

Usher Syndrome 1H


Presentation

  • Patients typically present clinical symptoms between the ages of… Continue Reading BridgeBio Pharma Raises 299 Million January 23, 2019 By Daniel S.[globalgenes.org]
  • QRX-411 has shown promising preclinical data in both patient fibroblasts and the optic cup model for mRNA restoration, which was presented at the Annual Meeting of the Association for Research in Vision and Ophthalmology (ARVO) in May 2017.[teletrader.com]
Epilepsy
  • A novel gene causing a mendelian audiogenic mouse epilepsy. Neuron. 2001; 31 :537–44. [ PubMed : 11545713 ] Sodi A, Mariottini A, Passerini I, Murro V, Tachyla I, Bianchi B, Menchini U, Torricelli F.[ncbi.nlm.nih.gov]
  • CLN5Ceroid lipofuscinosis, neuronal, 5256731 CLN6Ceroid lipofuscinosis, neuronal, 6601780 CLN6Ceroid lipofuscinosis, neuronal, Kufs type, adult onset,204300 CLN8Ceroid lipofuscinosis, neuronal, 8600143 CLN8Ceroid lipofuscinosis, neuronal, 8 Northern epilepsy[qgenomics.com]
  • Monitoring: Gaucher, Morbus / genetics: Null Mutant ) 22 Cystinosis (CTNS) CTNS 23 Cystic Fibrosis (Mucoviscidosis) (CFTR) CFTR 24 Diabetes insipidus, nephrogenic, Xchromosomal - (AVPR2) AVPR2 5 6 25 Diabetes insipidus, nephrogenic, autosomal -(AQP2) AQP2 26 Epilepsy[docplayer.net]
Falling
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  • GNAT2Achromatopsia-4,613856 GNB3Night blindness, congenital stationary, type 1H,617024 GNB3{Hypertension, essential, susceptibility to},145500 GNPTGMucolipidosis III gamma,252605 GPR143Nystagmus 6 congenital, X-linked,300814 GPR143Ocular albinism, type I, Nettleship-Falls[qgenomics.com]
Chills
  • Trip Lang ft Sam Pinto ... 21 more ... 1 x Lucxuz Asce TJ Monterde - Ikaw at Ako TJ Monterde - Dating Tayo TJ Monterde - Tulad Mo ( Lyric ) Evanescence - My Immortal ... 173 more ... 1 x music instrumental Relaxing Jazz Bossa Nova Music Radio - 247 Chill[listube.com]
Night Blindness
  • Night blindness, congenital stationary, type 1G,616389 GNAT2Achromatopsia-4,613856 GNB3Night blindness, congenital stationary, type 1H,617024 GNB3{Hypertension, essential, susceptibility to},145500 GNPTGMucolipidosis III gamma,252605 GPR143Nystagmus 6[qgenomics.com]
Visual Impairment
  • Evaluation of visual impairment in Usher syndrome 1b and Usher syndrome 2a. Acta Ophthalmol Scand. 2004; 82 :131–9. [ PubMed : 15043528 ] Plantinga RF, Kleemola L, Huygen PL, Joensuu T, Sankila EM, Pennings RJ, Cremers CW.[ncbi.nlm.nih.gov]
Hearing Impairment
  • OMIM : 58 Usher syndrome type I is an autosomal recessive condition characterized by profound congenital hearing impairment with unintelligible speech, early retinitis pigmentosa (usually evident within the first decade), and constant vestibular dysfunction[malacards.org]
  • [from GeneReviews ] From OMIM Usher syndrome type I is an autosomal recessive condition characterized by profound congenital hearing impairment with unintelligible speech, early retinitis pigmentosa (usually evident within the first decade), and constant[ncbi.nlm.nih.gov]
  • Page 1 of 9 Usher syndrome Usher syndrome (USH) is characterized by hearing impairment, progressive vision loss due to retinitis pigmentosa (RP) and, in some cases, by vestibular dysfunction.[institut-vision.org]
  • Cataract 41116400 WFS1{Diabetes mellitus, noninsulin-dependent, association with},125853 WRNWerner syndrome,277700 YAP1Coloboma, ocular,120433 YAP1Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation,120433[qgenomics.com]
Hearing Impairment
  • OMIM : 58 Usher syndrome type I is an autosomal recessive condition characterized by profound congenital hearing impairment with unintelligible speech, early retinitis pigmentosa (usually evident within the first decade), and constant vestibular dysfunction[malacards.org]
  • [from GeneReviews ] From OMIM Usher syndrome type I is an autosomal recessive condition characterized by profound congenital hearing impairment with unintelligible speech, early retinitis pigmentosa (usually evident within the first decade), and constant[ncbi.nlm.nih.gov]
  • Page 1 of 9 Usher syndrome Usher syndrome (USH) is characterized by hearing impairment, progressive vision loss due to retinitis pigmentosa (RP) and, in some cases, by vestibular dysfunction.[institut-vision.org]
  • Cataract 41116400 WFS1{Diabetes mellitus, noninsulin-dependent, association with},125853 WRNWerner syndrome,277700 YAP1Coloboma, ocular,120433 YAP1Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation,120433[qgenomics.com]
Normal Hearing
  • Unlike the other forms of Usher syndrome, type III is usually associated with normal hearing at birth. Hearing loss typically begins during late childhood or adolescence, after the development of speech, and becomes more severe over time.[ncbi.nlm.nih.gov]
  • hearing, vision and balance.[rarediseases.org]
  • The genes associated with Usher syndrome provide instructions for making proteins involved in normal hearing, balance, and vision.[ghr.nlm.nih.gov]
Progressive Hearing Loss
  • Patients with type III (USH3; 276902) have progressive hearing loss.[malacards.org]
  • Patients with type III (USH3; 276902) have progressive hearing loss. For a discussion of genetic heterogeneity of Usher syndrome type I, see USH1 (276900).[ncbi.nlm.nih.gov]
Areflexia
  • Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa.[ncbi.nlm.nih.gov]
Seizure
  • Febrile seizures, familial, 4604352 GRK1Oguchi disease-2,613411 GRM6Night blindness, congenital stationary (complete), 1B, autosomal recessive,257270 GRNAphasia, primary progressive,607485 GRNCeroid lipofuscinosis, neuronal, 11614706 GRNFrontotemporal[qgenomics.com]
  • A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizures. Ann Neurol. 2002; 52 :654–7. [ PubMed : 12402266 ] Pearsall N, Bhattacharya G, Wisecarver J, Adams J, Cosgrove D, Kimberling W.[ncbi.nlm.nih.gov]

Treatment

  • […] polypeptide chains Treatment of Behçets' disease Apremilast Treatment of eosinophilic oesophagitis Budesonide Treatment of mastocytosis Cladribine Treatment of congenital sucrase-isomaltase deficiency Sacrosidase Treatment of sickle cell disease (1R,[elbiruniblogspotcom.blogspot.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]
  • To date, there are no treatments approved or products in clinical development that treat the vision loss associated with the disease.[teletrader.com]

Prognosis

  • Estimation of prognosis and prevalence of retinitis pigmentosa and Usher syndrome in Norway. Clin. Genet. 31: 255-264, 1987.[omim.org]

Etiology

  • The Etiology of Deaf-mutism with Special Reference to Heredity. Copenhagen: E. Munksgaard (pub.) 1945. Malm, E., Ponjavic, V., Moller, C., Kimberling, W. J., Andreasson, S. Phenotypes in defined genotypes including siblings with Usher syndrome.[omim.org]

Prevention

  • […] disease type II (Pompe's disease) Recombinant human alpha-glucosidase conjugated with multiple copies of synthetic bismannose-6-phosphate-tetra-mannose glycan Treatment of pancreatic cancer Cysteamine bitartrate Prevention of graft rejection following[elbiruniblogspotcom.blogspot.com]
  • For instance, were an absent-minded clinicians to forward an email attachment with personal health information to their personal address, data loss prevention software might detect and prevent that.[projectcer.com]
  • Clinical cases, prevention, theory and literature survey. J. Chronic Dis. 22: 133-151, 1969. [PubMed: 4897966] Von Graefe, A. Exceptionelles Verhalten des Gesichtsfeldes bei Pigmententartung der Netzhaut. Graefes Arch. Ophthal. 4: 250-253, 1858.[omim.org]

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