Pendred Syndrome/nonsyndromic Enlarged Vestibular Aqueduct disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Sources

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

Sources

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

Sources

Related Diseases for Pendred Syndrome/nonsyndromic Enlarged Vestibular Aqueduct

Diseases related to Pendred Syndrome/nonsyndromic Enlarged Vestibular Aqueduct via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 17, show less)

#	Related Disease	Score	Top Affiliating Genes
1	sensorineural hearing loss	29.5	SLC26A4 KCNJ10
2	pendred syndrome	29.5	SLC26A4 KCNJ10 FOXI1
3	deafness, autosomal recessive 4, with enlarged vestibular aqueduct	29.4	SLC26A4 KCNJ10 FOXI1
4	branchiootic syndrome 1	10.4
5	goiter	10.4
6	autosomal recessive non-syndromic sensorineural deafness type dfnb	10.4
7	branchiootic syndrome	9.7	SLC26A4 FOXI1
8	branchiootorenal syndrome	9.7	SLC26A4 FOXI1
9	seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance	9.6	SLC26A4 KCNJ10
10	deafness, x-linked 2	9.6	SLC26A4 KCNJ10
11	hypokalemia	9.5	SLC26A4 KCNJ10
12	nonsyndromic hearing loss	9.5	SLC26A4 KCNJ10
13	usher syndrome, type i	9.4	SLC26A4 KCNJ10
14	ear malformation	9.2	SLC26A4 KCNJ10 FOXI1
15	vestibular disease	9.2	SLC26A4 KCNJ10 FOXI1
16	auditory system disease	9.2	SLC26A4 KCNJ10 FOXI1
17	inner ear disease	9.2	SLC26A4 KCNJ10 FOXI1

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

Sources

Symptoms & Phenotypes for Pendred Syndrome/nonsyndromic Enlarged Vestibular Aqueduct

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

⁴⁵ (showing 2, show less)

#	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

Sources

Drugs & Therapeutics for Pendred Syndrome/nonsyndromic Enlarged Vestibular Aqueduct

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

Sources

Genetic Tests for Pendred Syndrome/nonsyndromic Enlarged Vestibular Aqueduct

Sources

Anatomical Context for Pendred Syndrome/nonsyndromic Enlarged Vestibular Aqueduct

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

⁴⁰

Thyroid, Bone, Testes

Sources

Publications for Pendred Syndrome/nonsyndromic Enlarged Vestibular Aqueduct

Articles related to Pendred Syndrome/nonsyndromic Enlarged Vestibular Aqueduct:

(showing 47, show less)

#	Title	Authors	PMID	Year
1	A common SLC26A4-linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct. ²⁴	Chattaraj P...Griffith AJ	28780564	2017
2	Hearing loss associated with enlarged vestibular aqueduct and zero or one mutant allele of SLC26A4. ²⁴	Rose J...Griffith AJ	27859305	2017
3	Pendred syndrome. ²⁴	Wemeau JL...Kopp P	28648509	2017
4	Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss. ²⁴	Sloan-Heggen CM...Smith RJH	26969326	2016
5	Analysis of the thyroid phenotype in 42 patients with Pendred syndrome and nonsyndromic enlargement of the vestibular aqueduct. ²⁴	Ladsous M...Wemeau JL	24224479	2014
6	Mouse model of enlarged vestibular aqueducts defines temporal requirement of Slc26a4 expression for hearing acquisition. ²⁴	Choi BY...Griffith AJ	21965328	2011
7	Extremely discrepant mutation spectrum of SLC26A4 between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct. ²⁴	Huang S...Dai P	21961810	2011
8	Hereditary hearing loss with thyroid abnormalities. ²⁴	Choi BY...Griffith AJ	21358184	2011
9	SLC26A4 genotypes and phenotypes associated with enlargement of the vestibular aqueduct. ²⁴	Ito T...Griffith AJ	22116369	2011
10	KCNJ10 mutations disrupt function in patients with EAST syndrome. ²⁴	Freudenthal B...Zdebik AA	21849804	2011
11	Screening of SLC26A4, FOXI1 and KCNJ10 genes in unilateral hearing impairment with ipsilateral enlarged vestibular aqueduct. ²⁴	Jonard L...Marlin S	20621367	2010
12	A coherent organization of differentiation proteins is required to maintain an appropriate thyroid function in the Pendred thyroid. ²⁴	Senou M...Gerard AC	20501687	2010
13	SLC26A4 genotype, but not cochlear radiologic structure, is correlated with hearing loss in ears with an enlarged vestibular aqueduct. ²⁴	King KA...Brewer CC	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	Wu CC...Hsu CJ	19648736	2010
15	Segregation of enlarged vestibular aqueducts in families with non-diagnostic SLC26A4 genotypes. ²⁴	Choi BY...Griffith AJ	19578036	2009
16	Evaluation of the thyroid in patients with hearing loss and enlarged vestibular aqueducts. ²⁴	Madeo AC...Griffith AJ	19620588	2009
17	Mutations of KCNJ10 together with mutations of SLC26A4 cause digenic nonsyndromic hearing loss associated with enlarged vestibular aqueduct syndrome. ²⁴	Yang T...Smith RJ	19426954	2009
18	SLC26A4 mutation spectrum associated with DFNB4 deafness and Pendred's syndrome in Pakistanis. ²⁴	Anwar S...Riazuddin S	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	Choi BY...Griffith AJ	19204907	2009
20	Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10. ²⁴	Scholl UI...Lifton RP	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	Pera A...Hernandez-Chico C	18285825	2008
22	Genotype-phenotype correlations for SLC26A4-related deafness. ²⁴	Azaiez H...Smith RJ	17690912	2007
23	Clinical characteristics and genotype-phenotype correlation of hearing loss patients with SLC26A4 mutations. ²⁴	Suzuki H...Usami S	17851929	2007
24	Clinical investigation and mechanism of air-bone gaps in large vestibular aqueduct syndrome. ²⁴	Merchant SN...Rosowski JJ	17727085	2007
25	Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4). ²⁴	Yang T...Smith RJ	17503324	2007
26	Overview of the SLC26 family and associated diseases. ²⁴	Kere J	17120758	2006
27	Large vestibular aqueduct syndrome: audiological, radiological, clinical, and genetic features. ²⁴	Berrettini S...Franceschini SS	16275403	2005
28	Long-term follow-up in patients with Pendred syndrome: vestibular, auditory and other phenotypes. ²⁴	Sugiura M...Naganawa S	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	Wu CC...Hsu CJ	15933521	2005
30	CT of the ear in Pendred syndrome. ²⁴	Goldfeld M...Bishara N	15758191	2005
31	Sudden sensorineural hearing loss associated with inner ear anomaly. ²⁴	Sugiura M...Sato E	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	Pryor SP...Griffith AJ	15689455	2005
33	Genetic basis of hearing loss associated with enlarged vestibular aqueducts in Koreans. ²⁴	Park HJ...Koo SK	15679828	2005
34	Pathogenetics of the human SLC26 transporters. ²⁴	Dawson PA...Markovich D	15720248	2005
35	Intrafamilial variability of the deafness and goiter phenotype in Pendred syndrome caused by a T416P mutation in the SLC26A4 gene. ²⁴	Napiontek U...Pohlenz J	15531480	2004
36	Loss of KCNJ10 protein expression abolishes endocochlear potential and causes deafness in Pendred syndrome mouse model. ²⁴	Wangemann P...Marcus DC	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	Tsukamoto K...Usami S	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	Hulander M...Enerback S	12642503	2003
39	Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness. ²⁴	Park HJ...Griffith AJ	12676893	2003
40	Neuro-otological findings in Pendred syndrome. ²⁴	Luxon LM...Reardon W	12641391	2003
41	Fluctuant, progressive hearing loss associated with Menière like vertigo in three patients with the Pendred syndrome. ²⁴	Stinckens C...Cremers CW	11700190	2001
42	Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations. ²⁴	Campbell C...Smith RJ	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	Scott DA...Sheffield VC	10861298	2000
44	Prevalence, age of onset, and natural history of thyroid disease in Pendred syndrome. ²⁴	Reardon W...Trembath R	10465108	1999
45	Two frequent missense mutations in Pendred syndrome. ²⁴	Van Hauwe P...Van Camp G	9618166	1998
46	Molecular analysis of the PDS gene in Pendred syndrome. ²⁴	Coyle B...Trembath RC	9618167	1998
47	Pendred Syndrome/Nonsyndromic Enlarged Vestibular Aqueduct ⁶¹	Smith RJH...Schaefer AM	20301640	1998

Sources

Genes for Pendred Syndrome/nonsyndromic Enlarged Vestibular Aqueduct

Genes related to Pendred Syndrome/nonsyndromic Enlarged Vestibular Aqueduct (0 elite genes):

(showing 3, show less)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	FOXI1	Forkhead Box I1	Protein Coding	7.51	GeneCards inferred via : Publications (show sections)
2	KCNJ10	Potassium Inwardly Rectifying Channel Subfamily J Member 10	Protein Coding	7.51	GeneCards inferred via : Publications (show sections)
3	SLC26A4	Solute Carrier Family 26 Member 4	Protein Coding	7.51	GeneCards inferred via : Publications (show sections)

Sources

Variations for Pendred Syndrome/nonsyndromic Enlarged Vestibular Aqueduct

Sources

Expression for Pendred Syndrome/nonsyndromic Enlarged Vestibular Aqueduct

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

Sources

Pathways for Pendred Syndrome/nonsyndromic Enlarged Vestibular Aqueduct

Sources

GO Terms for Pendred Syndrome/nonsyndromic Enlarged Vestibular Aqueduct

Sources

Sources for Pendred Syndrome/nonsyndromic Enlarged Vestibular Aqueduct

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia