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Defective Thyroglobulin Transport

MedGen UID:
1372805
•Concept ID:
C4329704
•
Disease or Syndrome

Definition

Impairment in the intracellular transport of thyroglobulin. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDefective Thyroglobulin Transport

Recent clinical studies

Etiology

Genetics of primary congenital hypothyroidism-a review.
Kostopoulou E, Miliordos K, Spiliotis B
Hormones (Athens) 2021 Jun;20(2):225-236. Epub 2021 Jan 5 doi: 10.1007/s42000-020-00267-x. PMID: 33400193
Detection of Thyroid Abnormalities in Aquaporin-4 Antibody-Seropositive Optic Neuritis Patients.
Zhao S, Zhou H, Peng X, Tan S, Liu Z, Chen T, Xu Q, Wei S
J Neuroophthalmol 2017 Mar;37(1):24-29. doi: 10.1097/WNO.0000000000000454. PMID: 27749786
Genetic causes of congenital hypothyroidism due to dyshormonogenesis.
Grasberger H, Refetoff S
Curr Opin Pediatr 2011 Aug;23(4):421-8. doi: 10.1097/MOP.0b013e32834726a4. PMID: 21543982Free PMC Article
Mutations of the thyroglobulin gene and its relevance to thyroid disorders.
Rubio IG, Medeiros-Neto G
Curr Opin Endocrinol Diabetes Obes 2009 Oct;16(5):373-8. doi: 10.1097/MED.0b013e32832ff218. PMID: 19633549
Genetics of congenital hypothyroidism.
Park SM, Chatterjee VK
J Med Genet 2005 May;42(5):379-89. doi: 10.1136/jmg.2004.024158. PMID: 15863666Free PMC Article

Diagnosis

Genetics of primary congenital hypothyroidism-a review.
Kostopoulou E, Miliordos K, Spiliotis B
Hormones (Athens) 2021 Jun;20(2):225-236. Epub 2021 Jan 5 doi: 10.1007/s42000-020-00267-x. PMID: 33400193
Iodide handling disorders (NIS, TPO, TG, IYD).
Targovnik HM, Citterio CE, Rivolta CM
Best Pract Res Clin Endocrinol Metab 2017 Mar;31(2):195-212. Epub 2017 Apr 4 doi: 10.1016/j.beem.2017.03.006. PMID: 28648508
Mutations of the thyroglobulin gene and its relevance to thyroid disorders.
Rubio IG, Medeiros-Neto G
Curr Opin Endocrinol Diabetes Obes 2009 Oct;16(5):373-8. doi: 10.1097/MED.0b013e32832ff218. PMID: 19633549
Genetics of congenital hypothyroidism.
Park SM, Chatterjee VK
J Med Genet 2005 May;42(5):379-89. doi: 10.1136/jmg.2004.024158. PMID: 15863666Free PMC Article
Pendred syndrome.
Glaser B
Pediatr Endocrinol Rev 2003 Dec;1 Suppl 2:199-204; discussion 204. PMID: 16444159

Therapy

Effect of excess iodine intake on thyroid on human health.
Koukkou EG, Roupas ND, Markou KB
Minerva Med 2017 Apr;108(2):136-146. Epub 2017 Jan 12 doi: 10.23736/S0026-4806.17.04923-0. PMID: 28079354
Against all odds: blended phenotypes of three single-gene defects.
Li Y, Salfelder A, Schwab KO, Grünert SC, Velten T, Lütjohann D, Villavicencio-Lorini P, Matysiak-Scholze U, Zabel B, Köttgen A, Lausch E
Eur J Hum Genet 2016 Aug;24(9):1274-9. Epub 2016 Jan 27 doi: 10.1038/ejhg.2015.285. PMID: 26813946Free PMC Article
Clinical studies of exposure to perchlorate in the United States.
Braverman LE
Thyroid 2007 Sep;17(9):819-22. doi: 10.1089/thy.2007.0105. PMID: 17705696
Ultrastructural evidence of thyroid damage in amiodarone-induced thyrotoxicosis.
Cappiello E, Boldorini R, Tosoni A, Piraneo S, Bernasconi R, Raggi U
J Endocrinol Invest 1995 Dec;18(11):862-8. doi: 10.1007/BF03349834. PMID: 8778159
Classification of congenital hypothyroidism based on scintigraphy, ultrasonography and the serum thyroglobulin level.
Yoshimura R, Kodama S, Nakamura H
Kobe J Med Sci 1995 Jun;41(3):71-82. PMID: 8577088

Prognosis

The p.Cys1281Tyr variant in the hinge module/flap region of thyroglobulin causes intracellular transport disorder and congenital hypothyroidism.
Gomes Pio M, Adrover E, Miras MB, Sobrero G, Molina MF, Scheps KG, Rivolta CM, Targovnik HM
Mol Cell Endocrinol 2023 Jul 15;572:111948. Epub 2023 May 9 doi: 10.1016/j.mce.2023.111948. PMID: 37164149
Hashimoto's encephalitis associated with AMPAR2 antibodies: a case report.
Zhu M, Yu X, Liu C, Duan C, Li C, Zhu J, Zhang Y
BMC Neurol 2017 Feb 21;17(1):37. doi: 10.1186/s12883-017-0823-4. PMID: 28222692Free PMC Article
Detection of Thyroid Abnormalities in Aquaporin-4 Antibody-Seropositive Optic Neuritis Patients.
Zhao S, Zhou H, Peng X, Tan S, Liu Z, Chen T, Xu Q, Wei S
J Neuroophthalmol 2017 Mar;37(1):24-29. doi: 10.1097/WNO.0000000000000454. PMID: 27749786
Genetic causes of congenital hypothyroidism due to dyshormonogenesis.
Grasberger H, Refetoff S
Curr Opin Pediatr 2011 Aug;23(4):421-8. doi: 10.1097/MOP.0b013e32834726a4. PMID: 21543982Free PMC Article
Congenital hypothyroidism: etiology.
Dias VM, Campos AP, Chagas AJ, Silva RM
J Pediatr Endocrinol Metab 2010 Aug;23(8):815-26. doi: 10.1515/jpem.2010.131. PMID: 21073124

Clinical prediction guides

Clinical features, treatments, and outcomes of patients with anti-N-methyl-D-aspartate encephalitis-a single-center, retrospective analysis in China.
Xu Q, Zhu Y, Wang Q, Han J, Mao F, Zeng S, Chen S, Zhao C, Gu M, Li Z, Luo X, Fu X, Huang Y
Front Biosci (Landmark Ed) 2021 Sep 30;26(9):496-503. doi: 10.52586/4962. PMID: 34590462
Genetic causes of congenital hypothyroidism due to dyshormonogenesis.
Grasberger H, Refetoff S
Curr Opin Pediatr 2011 Aug;23(4):421-8. doi: 10.1097/MOP.0b013e32834726a4. PMID: 21543982Free PMC Article
Minireview: The sodium-iodide symporter NIS and pendrin in iodide homeostasis of the thyroid.
Bizhanova A, Kopp P
Endocrinology 2009 Mar;150(3):1084-90. Epub 2009 Feb 5 doi: 10.1210/en.2008-1437. PMID: 19196800Free PMC Article
Clinical studies of exposure to perchlorate in the United States.
Braverman LE
Thyroid 2007 Sep;17(9):819-22. doi: 10.1089/thy.2007.0105. PMID: 17705696
Thyroglobulin gene mutations producing defective intracellular transport of thyroglobulin are associated with increased thyroidal type 2 iodothyronine deiodinase activity.
Kanou Y, Hishinuma A, Tsunekawa K, Seki K, Mizuno Y, Fujisawa H, Imai T, Miura Y, Nagasaka T, Yamada C, Ieiri T, Murakami M, Murata Y
J Clin Endocrinol Metab 2007 Apr;92(4):1451-7. Epub 2007 Jan 23 doi: 10.1210/jc.2006-1242. PMID: 17244789

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