Entry Name Thyroid dyshormonogenesis;
Subgroup Pendred syndrome (PDS)
Description Thyroid dyshormonogenesis is a genetically heterogeneous group of inherited disorders in the enzymatic cascade of thyroid hormone synthesis that result in congenital hypothyroidism due to genetic defects in the synthesis of thyroid hormones.
Category Endocrine and metabolic disease
Brite Human diseases in ICD-11 classification [BR:br08403 ]br08402 ] BRITE hierarchy Pathway Network Gene Drug Liothyronine sodium [DR:
D01011 ]
Other DBs Reference Authors Avbelj M, Tahirovic H, Debeljak M, Kusekova M, Toromanovic A, Krzisnik C, Battelino T
Title High prevalence of thyroid peroxidase gene mutations in patients with thyroid dyshormonogenesis.
Journal Reference Authors Kumar PG, Anand SS, Sood V, Kotwal N
Title Thyroid dyshormonogenesis.
Journal Indian Pediatr 42:1233-5 (2005)
Reference Authors Park SM, Chatterjee VK
Title Genetics of congenital hypothyroidism.
Journal Reference Authors Fujiwara H, Tatsumi K, Miki K, Harada T, Miyai K, Takai S, Amino N
Title Congenital hypothyroidism caused by a mutation in the Na+/I- symporter.
Journal Reference Authors Abramowicz MJ, Targovnik HM, Varela V, Cochaux P, Krawiec L, Pisarev MA, Propato FV, Juvenal G, Chester HA, Vassart G
Title Identification of a mutation in the coding sequence of the human thyroid peroxidase gene causing congenital goiter.
Journal Reference Authors Yang T, Vidarsson H, Rodrigo-Blomqvist S, Rosengren SS, Enerback S, Smith RJ
Title Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4).
Journal Reference Authors Ieiri T, Cochaux P, Targovnik HM, Suzuki M, Shimoda S, Perret J, Vassart G
Title A 3' splice site mutation in the thyroglobulin gene responsible for congenital goiter with hypothyroidism.
Journal Reference Authors Moreno JC, Klootwijk W, van Toor H, Pinto G, D'Alessandro M, Leger A, Goudie D, Polak M, Gruters A, Visser TJ
Title Mutations in the iodotyrosine deiodinase gene and hypothyroidism.
Journal Reference Authors Zamproni I, Grasberger H, Cortinovis F, Vigone MC, Chiumello G, Mora S, Onigata K, Fugazzola L, Refetoff S, Persani L, Weber G
Title Biallelic inactivation of the dual oxidase maturation factor 2 (DUOXA2) gene as a novel cause of congenital hypothyroidism.
Journal Reference Authors Moreno JC, Bikker H, Kempers MJ, van Trotsenburg AS, Baas F, de Vijlder JJ, Vulsma T, Ris-Stalpers C
Title Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism.
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