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11 Possible Causes for Mutation in the ITM2B Gene

  • Cerebral Hemorrhage

    […] in the APP gene The British and Danish types are caused by mutations in the ITM2B gene The Icelandic type is caused by mutations in the CST3 gene All types of HCHWA currently[rarediseases.info.nih.gov] Based on the region in which they were first described, the subtypes include: [1] [2] The Dutch , Arctic , Piedmont , Iowa , Flemish , Italian types are caused by mutations[rarediseases.info.nih.gov]

  • Kohlschütter-Tönz Syndrome

    mutation revealed by whole-exome sequencing identifies ITM2B as a candidate gene underlying a novel autosomal dominant retinal dystrophy in a large family.[u1112.inserm.fr] Audo I, Bujakowska K, Orhan E, El Shamieh S, Sennlaub F, Guillonneau X, Antonio A, Michiels C, Lancelot ME, Letexier M, et al: The familial dementia gene revisited: a missense[u1112.inserm.fr]

  • Autosomal Dominant Deafness 56

    […] identifies ITM2B as a candidate gene underlying a novel … I Audo, K Bujakowska, E Orhan, S El Shamieh, F Sennlaub, ...[scholar.google.com] Investigative ophthalmology & visual science 54 (13), 8041-8050 , 2013 14 2013 The familial dementia gene revisited: a missense mutation revealed by whole-exome sequencing[scholar.google.com]

  • Amyloidosis

    RESULTS: We present design of NGS panel for 11 genes ( TTR , FGA , APOA1 , APOA2 , LYZ , GSN , CST3 , PRNP , APP , B2M , ITM2B ) connected to various forms of amyloidosis.[ncbi.nlm.nih.gov] We detected one mutation, which is responsible for hereditary amyloidosis.[ncbi.nlm.nih.gov]

  • ABri Amyloidosis

    Both of these ITM2B mutations result in a carboxy extension of the protein. The Drosophila CG3662 gene has not been genetically characterized.[flybase.org] 1 (CAA-ITM2B1) The disease is caused by mutations affecting the gene represented in this entry.[uniprot.org] A stop-codon mutation in the BRI gene associated with familial British dementia [9] .[wikigenes.org]

  • ADan Amyloidosis

    Gene Human Gene Mutation Database (HGMD) ITM2B SNPedia medical, phenotypic, and genealogical associations of SNPs for ITM2B No data available for Polymorphic Variants from[genecards.org] Both of these ITM2B mutations result in a carboxy extension of the protein. The Drosophila CG3662 gene has not been genetically characterized.[flybase.org] Note The disease is caused by mutations affecting the gene represented in this entry.[genecards.org]

  • Autosomal Dominant Spastic Paraplegia Type 4

    […] in the ITM2B gene [ 39 ].[bmcneurol.biomedcentral.com] To our knowledge, this is the first sense mutation reported in this gene.[bmcneurol.biomedcentral.com] The abolishment of a stop codon and the appearance of a longer ORF has been found in other hereditary diseases, such as the British Familial Dementia caused by a sense mutation[bmcneurol.biomedcentral.com]

  • Hereditary ATTR Amyloidosis

    Results We present design of NGS panel for 11 genes ( TTR, FGA, APOA1, APOA2, LYZ, GSN, CST3, PRNP, APP, B2M, ITM2B ) connected to various forms of amyloidosis.[jcp.bmj.com] We detected one mutation, which is responsible for hereditary amyloidosis.[jcp.bmj.com] […] protein 2B ITM2B has not been elucidated, despite the ongoing research in this area.[jcp.bmj.com]

  • Senior Loken Syndrome

    […] lab NGS of 5 genes: CEP290, GPR56, NPHP1, RPGRIP1L, TMEM67 method(s): Mutation Scanning of Entire Coding Region Sequencing, Next Gen Sistemas Genomicos, Medical Genetics[genetests.org] , KCNJ10, K method(s): Mutation Scanning of Entire Coding Region Sequencing, Next Gen Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain TAT : 7-8 weeks price : contact[genetests.org] ADCK3, ALS2, ANG, ATCAY, ATM, ATR, CA8, CEP290, C10orf2, COQ2, COQ9, CYP27A1, DNAJC19, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, FIG4, FLVCR1, FMR1, FUS, GJC2, GPR56, HSPD1, ITM2B[genetests.org]

  • Cerebral Amyloid Angiopathy

    Mutations in the APP, CST3, or ITM2B gene lead to the production of proteins that are less stable than normal and that tend to cluster together (aggregate).[ghr.nlm.nih.gov] Mutations in the gene cause CST3 Icelandic type. Mutations in British and Danish types are due to mutations in the gene ITM2B.[ivami.com] Both of these ITM2B mutations result in a carboxy extension of the protein. The Drosophila CG3662 gene has not been genetically characterized.[flybase.org]

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