PAX8, paired box 8, 7849

N. diseases: 253; N. variants: 24
Disease: Thyroid Hypoplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0151516
Disease: Thyroid Hypoplasia
Thyroid Hypoplasia 		0.700 GermlineCausalMutation disease ORPHANET A new heterozygous nucleotide substitution was detected in the PAX8 DNA-binding motif (c.397C/T, R133W) in the proband, affected by congenital hypothyroidism with thyroid hypoplasia, in his older sister, displaying a subclinical hypothyroidism associated with thyroid hypoplasia and thyroid nodules, in his father, affected by hypothyroidism with thyroid hypoplasia and thyroid nodules, and his first cousin as well, who revealed only a subclinical hypothyroidism. 25146893 2014
CUI: C0151516
Disease: Thyroid Hypoplasia
Thyroid Hypoplasia 		0.700 GeneticVariation disease BEFREE A new heterozygous nucleotide substitution was detected in the PAX8 DNA-binding motif (c.397C/T, R133W) in the proband, affected by congenital hypothyroidism with thyroid hypoplasia, in his older sister, displaying a subclinical hypothyroidism associated with thyroid hypoplasia and thyroid nodules, in his father, affected by hypothyroidism with thyroid hypoplasia and thyroid nodules, and his first cousin as well, who revealed only a subclinical hypothyroidism. 25146893 2014
CUI: C0151516
Disease: Thyroid Hypoplasia
Thyroid Hypoplasia 		0.700 GeneticVariation disease BEFREE A new mutation in the promoter region of the PAX8 gene causes true congenital hypothyroidism with thyroid hypoplasia in a girl with Down's syndrome. 24499175 2014
CUI: C0151516
Disease: Thyroid Hypoplasia
Thyroid Hypoplasia 		0.700 Biomarker disease BEFREE The PAX8 gene was sequenced in a mother and child both suffering from congenital hypothyroidism (CH) because of thyroid hypoplasia. 20718765 2010
CUI: C0151516
Disease: Thyroid Hypoplasia
Thyroid Hypoplasia 		0.700 GeneticVariation disease BEFREE We identified a novel small duplication of PAX8 (p.K80_A84dup) in two half-sibling patients with thyroid hypoplasia. 20157192 2010
CUI: C0151516
Disease: Thyroid Hypoplasia
Thyroid Hypoplasia 		0.700 GeneticVariation disease BEFREE In this patient we found no evidence for a mutation of the PAX8 gene known to cause an ectopic and/or hypoplastic thyroid. 17433800 2007
CUI: C0151516
Disease: Thyroid Hypoplasia
Thyroid Hypoplasia 		0.700 GeneticVariation disease BEFREE Absence of the Pax8 gene results in congenital hypothyroidism in mice, and mutations of the Pax8 gene have been associated with thyroid hypoplasia in humans. 17082261 2007
CUI: C0151516
Disease: Thyroid Hypoplasia
Thyroid Hypoplasia 		0.700 GeneticVariation disease BEFREE SSCP analysis and direct sequencing of exon 3 of a female patient with a hypoplastic thyroid gland revealed two heterozygous mutations in Pax8 resulting in a transition of T to C (codon 34) and G to A (codon 35), replacing isoleucine by threonine and valine by isoleucine. 16763387 2006
CUI: C0151516
Disease: Thyroid Hypoplasia
Thyroid Hypoplasia 		0.700 Biomarker disease BEFREE Although commonly regarded as sporadic disease, nonsyndromic thyroid hypoplasia has, in rare cases, been attributed to inherited defects in PAX8 and the TSHR gene. 16189712 2005
CUI: C0151516
Disease: Thyroid Hypoplasia
Thyroid Hypoplasia 		0.700 GeneticVariation disease BEFREE These results indicate that loss of function mutations of the PAX8 gene may cause congenital hypothyroidism in the absence of thyroid hypoplasia. 15356023 2004
CUI: C0151516
Disease: Thyroid Hypoplasia
Thyroid Hypoplasia 		0.700 GermlineCausalMutation disease ORPHANET Four girls with sporadic congenital hypothyroidism and hypoplastic thyroid glands were analyzed for mutations in PAX8 and TTF2 (FKHL15). 11502839 2001
CUI: C0151516
Disease: Thyroid Hypoplasia
Thyroid Hypoplasia 		0.700 GermlineCausalMutation disease ORPHANET Here, we describe a novel mutation of PAX8 causing autosomal dominant transmission of CH with thyroid hypoplasia. 11232006 2001
CUI: C0151516
Disease: Thyroid Hypoplasia
Thyroid Hypoplasia 		0.700 GeneticVariation disease BEFREE Four girls with sporadic congenital hypothyroidism and hypoplastic thyroid glands were analyzed for mutations in PAX8 and TTF2 (FKHL15). 11502839 2001
CUI: C0151516
Disease: Thyroid Hypoplasia
Thyroid Hypoplasia 		0.700 GeneticVariation disease BEFREE Here, we describe a novel mutation of PAX8 causing autosomal dominant transmission of CH with thyroid hypoplasia. 11232006 2001
CUI: C0151516
Disease: Thyroid Hypoplasia
Thyroid Hypoplasia 		0.700 Biomarker disease GENOMICS_ENGLAND PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis. 9590296 1998
CUI: C0151516
Disease: Thyroid Hypoplasia
Thyroid Hypoplasia 		0.700 Biomarker disease HPO