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101 Possible Causes for Bilateral Congenital Profound Sensorineural Hearing Loss, Mutation in the KCNJ5 Gene

  • Long QT Syndrome 13

    The Jervell and Lange-Nielsen syndrome is an autosomal recessive form of LQTS and is characterized by congenital profound bilateral sensorineural hearing loss and long QT[medicinenet.com] […] in the KCNJ5 gene on chromosome 11q24.3.[informatics.jax.org] In some cases, LQTS may be associated with congenital profound bilateral sensorineural hearing loss, known as Jervell and Lange-Nielsen syndrome (JLNS).[mayomedicallaboratories.com]

  • Familial Hyperaldosteronism Type 1

    […] in the KCNJ5 gene.[en.wikipedia.org] Familial hyperaldosteronism type III is caused by mutations in the KCNJ5 gene.[ghr.nlm.nih.gov] Zennaro MC, Jeunemaitre X: Mutations in KCNJ5 gene cause hyperaldosteronism. Circ Res 2011;108:1417-1418.[karger.com]

    Missing: Bilateral Congenital Profound Sensorineural Hearing Loss
  • Tietz Syndrome

    From Wikidata Jump to navigation Jump to search monogenic disease that is characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like[wikidata.org] Hearing loss is always bilateral, congenital, sensorineural and profound. Psychomotor development is normal.[orpha.net] profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair that has material basis in mutation in the MITF gene on[wikidata.org]

    Missing: Mutation in the KCNJ5 Gene
  • Long QT Syndrome

    The Jervell and Lange-Nielsen syndrome is an autosomal recessive form of LQTS and is characterized by congenital profound bilateral sensorineural hearing loss and long QT[medicinenet.com] Clinical sensitivity by gene KCNQ1 40% KCNH2 35% SCN5A 5% Studies show that up to 5% of mutation-negative LQTS individuals will have a large deletion or duplication in one[invitae.com] In some cases, LQTS may be associated with congenital profound bilateral sensorineural hearing loss, known as Jervell and Lange-Nielsen syndrome (JLNS).[mayomedicallaboratories.com]

  • Long QT Syndrome 6

    The Jervell and Lange-Nielsen syndrome is an autosomal recessive form of LQTS and is characterized by congenital profound bilateral sensorineural hearing loss and long QT[medicinenet.com] Clinical sensitivity by gene KCNQ1 40% KCNH2 35% SCN5A 5% Studies show that up to 5% of mutation-negative LQTS individuals will have a large deletion or duplication in one[invitae.com] In some cases, LQTS may be associated with congenital profound bilateral sensorineural hearing loss, known as Jervell and Lange-Nielsen syndrome (JLNS).[mayomedicallaboratories.com]

  • Hyperaldosteronism

    Mutations in the KCNJ5 gene, which encodes the inward rectifier K( ) channel 4 (G protein-activated inward rectifier K( ) channel 4, Kir3.4), cause familial hyperaldosteronism[ncbi.nlm.nih.gov] Abstract As a major cause of aldosterone producing adenomas, numerous gain-of-function mutations in the KCNJ5 gene (encoding the K( ) channel subunit GIRK4) have been identified[ncbi.nlm.nih.gov] Familial hyperaldosteronism type III is caused by mutations in the KCNJ5 gene.[ghr.nlm.nih.gov]

    Missing: Bilateral Congenital Profound Sensorineural Hearing Loss
  • Long QT Syndrome 10

    In some cases, LQTS may be associated with congenital profound bilateral sensorineural hearing loss, known as Jervell and Lange-Nielsen syndrome (JLNS).[mayomedicallaboratories.com] ; LQT-8: CACNA1C gene; LQT-9: CAV3 gene; LQT-10: SCN4B gene; LQT-11: AKAP9 gene; LQT-12 gene SNTA1; LQT-13: KCNJ5 gene.[ivami.com] Clinical sensitivity by gene KCNQ1 40% KCNH2 35% SCN5A 5% Studies show that up to 5% of mutation-negative LQTS individuals will have a large deletion or duplication in one[invitae.com]

  • Long QT Syndrome 8

    Jervell and Lange-Nielsen syndrome (JLNS) is characterized by congenital profound bilateral sensorineural hearing loss and LQTc usually greater than 500 msec.[ncbi.nlm.nih.gov] LQTS13 G protein-coupled, inwardly rectifying potassium channel subunit (Kir3.4) is encoded by the KCNJ5 gene.[frontiersin.org] Mutations in this gene may increase the late sodium current I Na. [17] LQT13 600734 KCNJ5 Also known as GIRK4, encodes G protein-sensitive inwardly rectifying potassium channels[en.wikipedia.org]

  • Usher Syndrome Type 1H

    Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa.[ncbi.nlm.nih.gov]

    Missing: Mutation in the KCNJ5 Gene
  • Usher Syndrome Type 1K

    Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa.[ncbi.nlm.nih.gov] Diagnostic methods Clinical diagnosis is based on findings of bilateral sensorineural hearing loss (symmetric, congenital and profound for type 1, and moderate to severe with[orpha.net]

    Missing: Mutation in the KCNJ5 Gene

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