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7 Possible Causes for Mutation in the Stromal Interaction Molecule 1 Gene

  • Anal Stenosis

    YPS is caused by a channelopathy in the Ca 2 -selective release-activated Ca 2 channel due to a gain-of-function mutation in the stromal interaction molecule 1 gene ( STIM1[consultant360.com]

  • Rectal Stenosis

    YPS is caused by a channelopathy in the Ca 2 -selective release-activated Ca 2 channel due to a gain-of-function mutation in the stromal interaction molecule 1 gene ( STIM1[consultant360.com]

  • Tubular Aggregate Myopathy

    Recently mutations in the gene encoding the main calcium sensor in the sarcoplasmic reticulum, stromal interaction molecule 1 (STIM1), have been identified as a cause of autosomal[ncbi.nlm.nih.gov]

  • X-Linked Severe Combined Immunodeficiency

    CRAC; its name comes from ORAI, the three sisters of Greek mythology), and STIM1 (stromal interaction molecule-1; it is the sensor of Ca 2 levels in ER and the activator[doi.org] In rare AR T B NK SCID patients has been identified a SOCE-CRAC defect, caused by mutations in genes encoding two highly conserved proteins: ORAI1 (subunit forming pores in[doi.org]

  • Hyper-IgM Syndrome with Susceptibility to Opportunistic Infections

    […] of various transcription factors); PNP, purine nucleoside phosphorylase; RAG, recombinase activating gene; STIM1, stromal interaction molecule 1.)[clinicalgate.com] […] kinase catalytic subunit; IL-7R, interleukin 7 receptor; JAK3, janus-associated kinase 3; LIG4, DNA ligase IV; MHC II, major histocompatibility class II antigens (due to mutation[clinicalgate.com]

  • Autosomal Dominant Thrombocytopenia 5

    YPS is caused by a channelopathy in the Ca 2 -selective release-activated Ca 2 channel due to a gain-of-function mutation in the stromal interaction molecule 1 gene ( STIM1[consultant360.com]

  • Autoinflammatory Syndrome

    […] signal transducer and activator of transcription 3 STAT3 STIM1 STIM1 deficiency stromal interaction molecule 1 STIM1 STXBP2 STXBP2 / Munc18-2 deficiency (FHL5) munc18-2 MUNC18[invitae.com] -2 TMEM173 STING–associated vasculopathy, infantile onset stimulator of interferon genes STING TNFRSF1A ( TNF receptor-associated periodic syndrome ( TRAPS ) tumor necrosis[invitae.com] […] glucose-6-phosphate transporter 1 G6PT1 STAT1 STAT1 deficiency signal transducer and activator of transcription 1 STAT1 STAT3 AD-HIES (Job or Buckley Syndrome), STAT3 GOF mutations[invitae.com]

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