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Genes (52)
Species: human : 52 | |
Human | IYD | 389434 | iodotyrosine deiodinase | homozygous mutations in DEHAL1 appear to cause human iodotyrosine deiodinase deficiency, leading to hereditary hypothyroidism and goiter | Human | UBR1 | 197131 | ubiquitin protein ligase E3 component n-recognin 1 | Hypothyroidism (30% patients) | Human | KISS1R | 84634 | KISS1 receptor | Occasional hypothyroidism | Human | FOXP3 | 50943 | forkhead box P3 | | Human | DUOX2 | 50506 | dual oxidase 2 | INFERRED, Score=800, UMLKSK CUI: C0020676 | Human | LHX3 | 8022 | LIM homeobox 3 | | Human | PAX8 | 7849 | paired box 8 | INFERRED, Score=800, UMLKSK CUI: C0020676 | Human | ALMS1 | 7840 | Alstrom syndrome 1 | | Human | WFS1 | 7466 | Wolfram syndrome 1 (wolframin) | | Human | TSHR | 7253 | thyroid stimulating hormone receptor | INFERRED, Score=800, UMLKSK CUI: C0020676 | Human | TSHB | 7252 | thyroid stimulating hormone, beta | Title:Congenital central hypothyroidism due to homozygous thyrotropin beta 313 Delta T mutation is caused by a Founder effect.|Association:Not Found|Conclusion:Our data suggest a monophyletic origin of the TSHbeta 313DeltaT mutation from a common ancestor and no significant population prevalence. Therefore, identification and genetic counseling of heterozygous carriers in affected families seems to be more advisable than population-wide neonatal T(4) screening programs for an early detection of this rare condition. Title:Compound Heterozygous and Homozygous Mutations of the TSHbeta Gene as a Cause of Congenital Central Hypothyroidism in Europe|Association:Y|Conclusion:Clinical awareness is required to detect hypothyroidism due to TSHbeta mutations, which is not identified by TSH-based newborn screening. TSHbeta variants C105Vfs114X and Q49X are the most frequent cause of this severe disorder in Europe, now for the first time observed in compound heterozygous state. Hypothyroidism, nongoitrous | Human | TSC2 | 7249 | tuberous sclerosis 2 | | Human | TSC1 | 7248 | tuberous sclerosis 1 | | Human | TPO | 7173 | thyroid peroxidase | The identified thyroid peroxidase gene mutation (R314W) is very likely the genetic cause for hypothyroidism in the reported child Hypothyroidism during type I interferon therapy may be related to an abnormal expression and function of key proteins involved in iodine uptake and organification | Human | TNF | 7124 | tumor necrosis factor | Title:Analysis of MHC genes in a Tunisian isolate with autoimmune thyroid diseases: implication of TNF-308 gene polymorphism.|Association:Y|Conclusion:Results found by TDT-STDT have confirmed the involvement of the TNF -308 gene polymorphism in AITD pathogenesis. | Human | NKX2-1 | 7080 | | a NKX2.1 mutation may have a role in hypothyroidism and benign hereditary chorea Hypothyroidism, congenital | Human | TG | 7038 | thyroglobulin | a new case of congenital goiter and hypothyroidism caused by a p.R277X mutation in the TG gene There is an association of the IVS30+G>T mutation of the thyroglobulin gene with hypothyroidism | Human | TBX1 | 6899 | T-box 1 | Hypothyroidism (20% of adults) | Human | SLC16A2 | 6567 | solute carrier family 16, member 2 (thyroid hormone transporter) | No peripheral signs of hypothyroidism | Human | SLC5A5 | 6528 | solute carrier family 5 (sodium/iodide cotransporter), member 5 | | Human | CCL2 | 6347 | chemokine (C-C motif) ligand 2 | increased CXCL10 especially in hypothyroid patients with a more aggressive disorder, and normal CCL2 serum levels in autoimmune thyroiditis | Human | SALL1 | 6299 | sal-like 1 (Drosophila) | | Human | PTEN | 5728 | phosphatase and tensin homolog | | Human | TAS2R38 | 5726 | taste receptor, type 2, member 38 | INFERRED, Score=800, UMLKSK CUI: C0020676 | Human | PMM2 | 5373 | phosphomannomutase 2 | |
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