Create issue ticket

926 Possible Causes for Pendred Syndrome, Deafness with Goiter

  • Pendred's Syndrome

    Abstract Pendred's syndrome is an autosomal recessive disease characterized by goiter, impaired iodide organification, and congenital sensorineural deafness.[ncbi.nlm.nih.gov] The sex distribution of the patients with Pendred's syndrome and their families was recorded.[ncbi.nlm.nih.gov] Meticulous clinical and laboratory evaluation is mandatory for the detection of rare disorders like Pendred's syndrome.[ncbi.nlm.nih.gov]

  • Autosomal Recessive Deafness 1B

    In humans, mutations in PDS cause the genetic disorder Pendred syndrome, which is associated with deafness and goiter.[scinapse.io] […] abnormalities in BOR, or thyroid abnormalities in Pendred syndrome).[personalizedmedicine.partners.org] […] syndrome; PDS: Pendred syndrome (Deafness with goiter); DIS: Deafness infertility syndrome; ARNSHL: autosomal recessive nonsyndromic hearing loss; BRWS: Baraitser-Winter[centogene.com]

  • Autosomal Recessive Deafness 22

    In humans, mutations in PDS cause the genetic disorder Pendred syndrome, which is associated with deafness and goiter.[scinapse.io] In case of recessive syndromic deafness Ushers syndrome and Pendred syndrome are most important.[ayubmed.edu.pk] […] syndrome; PDS: Pendred syndrome (Deafness with goiter); DIS: Deafness infertility syndrome; ARNSHL: autosomal recessive nonsyndromic hearing loss; BRWS: Baraitser-Winter[centogene.com]

  • High Myopia-Sensorineural Deafness Syndrome

    Among individuals with sensorineural hearing loss up to 5% have hearing loss associated with Pendred syndrome and up to 10% have Usher syndrome.[personalizedmedicine.partners.org] Q87.89 Alport syndrome H90.5 Sensorineural hearing loss, unilateral and bilateral E07.1 Pendred syndrome H35.50 Usher syndrome Q89.8 Stickler syndrome G31.89 Mohr-Tranebjaerg[blueprintgenetics.com] Pendred Syndrome Pendred syndrome is one of the most common syndromic forms of deafness. In essence it is deafness associated with thyroid disease (euthyroid goiter).[dizziness-and-balance.com]

  • Autosomal Dominant Deafness 11

    Radiological malformations of the ear in Pendred Syndrome. Clin Radiol 1998;53:268-73. 33. Kabakkaya Y, Bakan E, Yigitoglus MR, Goke G, Dogan M. Pendred Syndrome.[ayubmed.edu.pk] syndrome (hearing loss and thyroid dysfunction), encoding a iodide-chloride transporter, may also account for an underestimated proportion of isolated deafness (DFNB4), which[ommbid.mhmedical.com] Allelic with Pendred syndrome.[academic.oup.com]

  • Autosomal Recessive Deafness 42

    […] syndrome; PDS: Pendred syndrome (Deafness with goiter); DIS: Deafness infertility syndrome; ARNSHL: autosomal recessive nonsyndromic hearing loss; BRWS: Baraitser-Winter[centogene.com] In case of recessive syndromic deafness Ushers syndrome and Pendred syndrome are most important.[ayubmed.edu.pk] syndrome (hearing loss and thyroid dysfunction), encoding a iodide-chloride transporter, may also account for an underestimated proportion of isolated deafness (DFNB4), which[ommbid.mhmedical.com]

  • Deafness, Autosomal Dominant 23

    Foundation Deafness Resources Australia Deafness with goiter Deafness, Autosomal Dominant deafness, autosomal dominant 11 deafness, autosomal dominant 20; deafness, autosomal[medical-dictionary.thefreedictionary.com] […] abnormalities in BOR, or thyroid abnormalities in Pendred syndrome).[personalizedmedicine.partners.org] SIX5 Enlarged Vestibular Aqueduct (EVA) : FOXI1, KCNJ10, SLC26A4 (Pendred Syndrome) X-linked Dominant Charcot-Marie-Tooth Disease : GJB1(Cx32), TIMM8A, Chudley-McCullough[otogenetics.com]

  • Autosomal Recessive Deafness 24

    In humans, mutations in PDS cause the genetic disorder Pendred syndrome, which is associated with deafness and goiter.[scinapse.io] In case of recessive syndromic deafness Ushers syndrome and Pendred syndrome are most important.[ayubmed.edu.pk] syndrome (hearing loss and thyroid dysfunction), encoding a iodide-chloride transporter, may also account for an underestimated proportion of isolated deafness (DFNB4), which[ommbid.mhmedical.com]

  • Autosomal Recessive Deafness 23

    […] syndrome; PDS: Pendred syndrome (Deafness with goiter); DIS: Deafness infertility syndrome; ARNSHL: autosomal recessive nonsyndromic hearing loss; BRWS: Baraitser-Winter[centogene.com] In case of recessive syndromic deafness Ushers syndrome and Pendred syndrome are most important.[ayubmed.edu.pk] […] abnormalities in BOR, or thyroid abnormalities in Pendred syndrome).[personalizedmedicine.partners.org]

  • Congenital Goiter

    Although Pendred syndrome is caused by a genetic defect, it rarely manifests in the newborn period.[merckmanuals.com] Some common forms of syndromic hypothyroidism include Pendred syndrome, Bamforth-Lazarus syndrome, and brain-lung-thyroid syndrome. [ Read More ][icdlist.com] Pendred’s syndrome, characterized by familial goiter and neurosensory deafness, is caused by a mutation in the pendrin gene, which codes for a chloride-iodide transport protein[clinicalgate.com]

Further symptoms

Similar symptoms