Goiter
|
0.700 |
GeneticVariation
|
phenotype |
BEFREE |
Mutations in SLC26A4 cause Pendred syndrome, an autosomal-recessive disorder characterized by sensorineural deafness and goiter, and DFNB4, a type of autosomal recessive nonsyndromic deafness in which, by definition, affected persons do not have thyromegaly.
|
14679580 |
2004 |
Goiter
|
0.700 |
GeneticVariation
|
phenotype |
BEFREE |
Mutations in the SLC26A4 gene cause both classical PS and deafness associated with an enlarged vestibular aqueduct without goiter.
|
15531480 |
2004 |
Goiter
|
0.700 |
Biomarker
|
phenotype |
CTD_human |
All patients harbouring mutations in the SLC26A4 gene had goiter and a positive perchlorate discharge test: 3 were slightly hypothyroid and 2 euthyroid.
|
15279074 |
2004 |
Goiter
|
0.700 |
Biomarker
|
phenotype |
BEFREE |
The PDS gene (7q31), responsible for Pendred syndrome (congenital sensorineural hearing loss and goiter), encodes a transmembrane protein known as pendrin.
|
12727986 |
2003 |
Goiter
|
0.700 |
GeneticVariation
|
phenotype |
BEFREE |
The combination of all these symptoms suggested the diagnosis of Pendred syndrome (PDS), a disorder characterised by congenital sensorineural hearing loss and a variable degree of thyromegaly due to mutations in the SLC26A4/PDSgene.
|
12920581 |
2003 |
Goiter
|
0.700 |
GeneticVariation
|
phenotype |
BEFREE |
Pendred's syndrome with goiter and enlarged vestibular aqueducts diagnosed by PDS gene mutation.
|
12112546 |
2002 |
Goiter
|
0.700 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
Mutations of the PDS gene, encoding pendrin, are associated with protein mislocalization and loss of iodide efflux: implications for thyroid dysfunction in Pendred syndrome.
|
11932316 |
2002 |
Goiter
|
0.700 |
Biomarker
|
phenotype |
BEFREE |
The present results question the sensitivity of the perchlorate test for the diagnosis of Pendred syndrome and support the use of a molecular analysis of the PDS gene in the assessment of individuals with severe to profound congenital hearing loss associated with inner ear morphological anomaly even in the absence of a thyroid goiter.
|
10602116 |
2000 |
Goiter
|
0.700 |
GeneticVariation
|
phenotype |
BEFREE |
We hypothesize that this residual level of anion transport is sufficient to eliminate or postpone the onset of goiter in individuals with DFNB4.
|
10861298 |
2000 |
Goiter
|
0.700 |
Biomarker
|
phenotype |
BEFREE |
Pendrin functions as an iodide and chloride transporter, but its role in the development of hearing loss and goiter is unknown.
|
10644529 |
2000 |
Goiter
|
0.700 |
GeneticVariation
|
phenotype |
BEFREE |
Phenocopies for deafness and goiter development in a large inbred Brazilian kindred with Pendred's syndrome associated with a novel mutation in the PDS gene.
|
9920104 |
1999 |
Goiter
|
0.700 |
GeneticVariation
|
phenotype |
BEFREE |
Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4.
|
8630497 |
1996 |
Goiter
|
0.700 |
Biomarker
|
phenotype |
HPO |
|
|
|