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Thyroid hormone plasma membrane transport defect(DEFECT)

MedGen UID:
396060
Concept ID:
C1861101
Disease or Syndrome
Synonyms: DEFECT; Hyperthyroxinemia, eumetabolic, due to T4 plasma membrane transport; Thyroid hormone resistance due to T4 plasma membrane transport defect
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
892334
Concept ID:
CN000007
Functional Concept
Source: HPO
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
OMIM®: 188560

Clinical features

Goiter
MedGen UID:
42270
Concept ID:
C0018021
Finding
An enlargement of the thyroid gland.
Euthyroid hyperthyroxinemia
MedGen UID:
867191
Concept ID:
C4021549
Pathologic Function
An abnormality of thyroid physiology (HP:0002926) characterized by increased levels of thyroxine without evidence of clinical thyroid disease.

Recent clinical studies

Etiology

Paroder V, Nicola JP, Ginter CS, Carrasco N
J Cell Sci 2013 Aug 1;126(Pt 15):3305-13. Epub 2013 May 20 doi: 10.1242/jcs.120246. PMID: 23690546Free PMC Article
Li W, Nicola JP, Amzel LM, Carrasco N
FASEB J 2013 Aug;27(8):3229-38. Epub 2013 May 6 doi: 10.1096/fj.13-229138. PMID: 23650190Free PMC Article
Kersseboom S, Kremers GJ, Friesema EC, Visser WE, Klootwijk W, Peeters RP, Visser TJ
Mol Endocrinol 2013 May;27(5):801-13. Epub 2013 Apr 2 doi: 10.1210/me.2012-1356. PMID: 23550058

Diagnosis

Fu J, Dumitrescu AM
Best Pract Res Clin Endocrinol Metab 2014 Mar;28(2):189-201. Epub 2013 Jul 9 doi: 10.1016/j.beem.2013.05.014. PMID: 24629861Free PMC Article
Dumitrescu AM, Refetoff S
Biochim Biophys Acta 2013 Jul;1830(7):3987-4003. Epub 2012 Aug 16 doi: 10.1016/j.bbagen.2012.08.005. PMID: 22986150Free PMC Article
Refetoff S, Dumitrescu AM
Best Pract Res Clin Endocrinol Metab 2007 Jun;21(2):277-305. doi: 10.1016/j.beem.2007.03.005. PMID: 17574009
Friesema EC, Jansen J, Heuer H, Trajkovic M, Bauer K, Visser TJ
Nat Clin Pract Endocrinol Metab 2006 Sep;2(9):512-23. doi: 10.1038/ncpendmet0262. PMID: 16957765
Dohán O, De la Vieja A, Paroder V, Riedel C, Artani M, Reed M, Ginter CS, Carrasco N
Endocr Rev 2003 Feb;24(1):48-77. doi: 10.1210/er.2001-0029. PMID: 12588808

Therapy

Jansen M, Krenning EP, Oostdijk W, Docter R, Kingma BE, van den Brande JV, Hennemann G
Lancet 1982 Oct 16;2(8303):849-51. PMID: 6126713

Clinical prediction guides

Ramos HE
Endocr Dev 2014;26:108-17. Epub 2014 Aug 29 doi: 10.1159/000363158. PMID: 25231447
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
Dumitrescu AM, Liao XH, Weiss RE, Millen K, Refetoff S
Endocrinology 2006 Sep;147(9):4036-43. Epub 2006 May 18 doi: 10.1210/en.2006-0390. PMID: 16709608
Zegarra-Moran O, Romio L, Folli C, Caci E, Becq F, Vierfond JM, Mettey Y, Cabrini G, Fanen P, Galietta LJ
Br J Pharmacol 2002 Oct;137(4):504-12. doi: 10.1038/sj.bjp.0704882. PMID: 12359632Free PMC Article

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