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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 | Hypothyroidism, nongoitrous 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. | 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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