MCID: PND005
MIFTS: 15

Pendred Syndrome/nonsyndromic Enlarged Vestibular Aqueduct

Aliases & Classifications for Pendred Syndrome/nonsyndromic Enlarged Vestibular Aqueduct

MalaCards integrated aliases for Pendred Syndrome/nonsyndromic Enlarged Vestibular Aqueduct:

Name: Pendred Syndrome/nonsyndromic Enlarged Vestibular Aqueduct 24
Pds/nseva 24
Pds/dfnb4 24

Summaries for Pendred Syndrome/nonsyndromic Enlarged Vestibular Aqueduct

MalaCards based summary : Pendred Syndrome/nonsyndromic Enlarged Vestibular Aqueduct, also known as pds/nseva, is related to sensorineural hearing loss and pendred syndrome. An important gene associated with Pendred Syndrome/nonsyndromic Enlarged Vestibular Aqueduct is FOXI1 (Forkhead Box I1). Affiliated tissues include thyroid, bone and testes, and related phenotypes are hearing/vestibular/ear and renal/urinary system

GeneReviews: NBK1467

Related Diseases for Pendred Syndrome/nonsyndromic Enlarged Vestibular Aqueduct

Graphical network of the top 20 diseases related to Pendred Syndrome/nonsyndromic Enlarged Vestibular Aqueduct:



Diseases related to Pendred Syndrome/nonsyndromic Enlarged Vestibular Aqueduct

Symptoms & Phenotypes for Pendred Syndrome/nonsyndromic Enlarged Vestibular Aqueduct

MGI Mouse Phenotypes related to Pendred Syndrome/nonsyndromic Enlarged Vestibular Aqueduct:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.13 FOXI1 KCNJ10 SLC26A4
2 renal/urinary system MP:0005367 8.8 FOXI1 KCNJ10 SLC26A4

Drugs & Therapeutics for Pendred Syndrome/nonsyndromic Enlarged Vestibular Aqueduct

Search Clinical Trials , NIH Clinical Center for Pendred Syndrome/nonsyndromic Enlarged Vestibular Aqueduct

Genetic Tests for Pendred Syndrome/nonsyndromic Enlarged Vestibular Aqueduct

Anatomical Context for Pendred Syndrome/nonsyndromic Enlarged Vestibular Aqueduct

MalaCards organs/tissues related to Pendred Syndrome/nonsyndromic Enlarged Vestibular Aqueduct:

40
Thyroid, Bone, Testes

Publications for Pendred Syndrome/nonsyndromic Enlarged Vestibular Aqueduct

Articles related to Pendred Syndrome/nonsyndromic Enlarged Vestibular Aqueduct:

(show all 47)
# Title Authors PMID Year
1
A common SLC26A4-linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct. 24
28780564 2017
2
Hearing loss associated with enlarged vestibular aqueduct and zero or one mutant allele of SLC26A4. 24
27859305 2017
3
Pendred syndrome. 24
28648509 2017
4
Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss. 24
26969326 2016
5
Analysis of the thyroid phenotype in 42 patients with Pendred syndrome and nonsyndromic enlargement of the vestibular aqueduct. 24
24224479 2014
6
Mouse model of enlarged vestibular aqueducts defines temporal requirement of Slc26a4 expression for hearing acquisition. 24
21965328 2011
7
Extremely discrepant mutation spectrum of SLC26A4 between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct. 24
21961810 2011
8
Hereditary hearing loss with thyroid abnormalities. 24
21358184 2011
9
SLC26A4 genotypes and phenotypes associated with enlargement of the vestibular aqueduct. 24
22116369 2011
10
KCNJ10 mutations disrupt function in patients with EAST syndrome. 24
21849804 2011
11
Screening of SLC26A4, FOXI1 and KCNJ10 genes in unilateral hearing impairment with ipsilateral enlarged vestibular aqueduct. 24
20621367 2010
12
A coherent organization of differentiation proteins is required to maintain an appropriate thyroid function in the Pendred thyroid. 24
20501687 2010
13
SLC26A4 genotype, but not cochlear radiologic structure, is correlated with hearing loss in ears with an enlarged vestibular aqueduct. 24
19998422 2010
14
Phenotypic analyses and mutation screening of the SLC26A4 and FOXI1 genes in 101 Taiwanese families with bilateral nonsyndromic enlarged vestibular aqueduct (DFNB4) or Pendred syndrome. 24
19648736 2010
15
Segregation of enlarged vestibular aqueducts in families with non-diagnostic SLC26A4 genotypes. 24
19578036 2009
16
Evaluation of the thyroid in patients with hearing loss and enlarged vestibular aqueducts. 24
19620588 2009
17
Mutations of KCNJ10 together with mutations of SLC26A4 cause digenic nonsyndromic hearing loss associated with enlarged vestibular aqueduct syndrome. 24
19426954 2009
18
SLC26A4 mutation spectrum associated with DFNB4 deafness and Pendred's syndrome in Pakistanis. 24
19287372 2009
19
Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms? 24
19204907 2009
20
Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10. 24
19289823 2009
21
A mutational analysis of the SLC26A4 gene in Spanish hearing-impaired families provides new insights into the genetic causes of Pendred syndrome and DFNB4 hearing loss. 24
18285825 2008
22
Genotype-phenotype correlations for SLC26A4-related deafness. 24
17690912 2007
23
Clinical characteristics and genotype-phenotype correlation of hearing loss patients with SLC26A4 mutations. 24
17851929 2007
24
Clinical investigation and mechanism of air-bone gaps in large vestibular aqueduct syndrome. 24
17727085 2007
25
Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4). 24
17503324 2007
26
Overview of the SLC26 family and associated diseases. 24
17120758 2006
27
Large vestibular aqueduct syndrome: audiological, radiological, clinical, and genetic features. 24
16275403 2005
28
Long-term follow-up in patients with Pendred syndrome: vestibular, auditory and other phenotypes. 24
15747138 2005
29
Prevalent SLC26A4 mutations in patients with enlarged vestibular aqueduct and/or Mondini dysplasia: a unique spectrum of mutations in Taiwan, including a frequent founder mutation. 24
15933521 2005
30
CT of the ear in Pendred syndrome. 24
15758191 2005
31
Sudden sensorineural hearing loss associated with inner ear anomaly. 24
15793412 2005
32
SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities. 24
15689455 2005
33
Genetic basis of hearing loss associated with enlarged vestibular aqueducts in Koreans. 24
15679828 2005
34
Pathogenetics of the human SLC26 transporters. 24
15720248 2005
35
Intrafamilial variability of the deafness and goiter phenotype in Pendred syndrome caused by a T416P mutation in the SLC26A4 gene. 24
15531480 2004
36
Loss of KCNJ10 protein expression abolishes endocochlear potential and causes deafness in Pendred syndrome mouse model. 24
15320950 2004
37
Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese. 24
14508505 2003
38
Lack of pendrin expression leads to deafness and expansion of the endolymphatic compartment in inner ears of Foxi1 null mutant mice. 24
12642503 2003
39
Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness. 24
12676893 2003
40
Neuro-otological findings in Pendred syndrome. 24
12641391 2003
41
Fluctuant, progressive hearing loss associated with Menière like vertigo in three patients with the Pendred syndrome. 24
11700190 2001
42
Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations. 24
11317356 2001
43
Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4). 24
10861298 2000
44
Prevalence, age of onset, and natural history of thyroid disease in Pendred syndrome. 24
10465108 1999
45
Two frequent missense mutations in Pendred syndrome. 24
9618166 1998
46
Molecular analysis of the PDS gene in Pendred syndrome. 24
9618167 1998
47
Pendred Syndrome/Nonsyndromic Enlarged Vestibular Aqueduct 61
20301640 1998

Variations for Pendred Syndrome/nonsyndromic Enlarged Vestibular Aqueduct

Expression for Pendred Syndrome/nonsyndromic Enlarged Vestibular Aqueduct

Search GEO for disease gene expression data for Pendred Syndrome/nonsyndromic Enlarged Vestibular Aqueduct.

Pathways for Pendred Syndrome/nonsyndromic Enlarged Vestibular Aqueduct

GO Terms for Pendred Syndrome/nonsyndromic Enlarged Vestibular Aqueduct

Sources for Pendred Syndrome/nonsyndromic Enlarged Vestibular Aqueduct

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61 PubMed
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68 SNOMED-CT via HPO
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70 Tocris
71 UMLS
72 UMLS via Orphanet
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