MCID: PND002
MIFTS: 56

Pendred Syndrome malady

Categories: Genetic diseases, Rare diseases, Ear diseases, Endocrine diseases, Fetal diseases

Aliases & Classifications for Pendred Syndrome

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Sources:
11Disease Ontology, 12diseasecard, 25Genetics Home Reference, 27GTR, 30ICD10, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot, 71Wikipedia
See all MalaCards sources

Aliases & Descriptions for Pendred Syndrome:

Name: Pendred Syndrome 52 11 71 48 25 54 70 12 50 39
Goiter-Deafness Syndrome 11 48 25 54 70
Deafness with Goiter 11 48 25 70
Pendred's Syndrome 25 27 68
Thyroid Dyshormonogenesis 2b 11 70
Tdh2b 11 70
 
Pds 48 70
Autosomal Recessive Sensorineural Hearing Impairment, Enlarged Vestibular Aqueduct, and Goiter 25
Autosomal Recessive Sensorineural Hearing Impairment and Goiter 48
Congenital Hypothyroidism Due to Dyshormonogenesis 2b 11
Genetic Defect in Thyroid Hormonogenesis 2b 11

Characteristics:

Orphanet epidemiological data:

54
pendred syndrome:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy

HPO:

64
pendred syndrome:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 274600
Disease Ontology11 DOID:0060744
ICD1030 E07.1
Orphanet54 ORPHA705
MESH via Orphanet40 C536648
UMLS via Orphanet69 C0271829
ICD10 via Orphanet31 E07.1
MedGen37 C0271829

Summaries for Pendred Syndrome

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NIH Rare Diseases:48 Pendred syndrome is a condition usually characterized by sensorineural hearing loss in both ears (bilateral) and euthyroid goiter (enlargement of the thyroid gland with normal thyroid gland function). The amount of hearing loss varies among affected people. In many cases, significant hearing loss is present at birth. In other cases, hearing loss does not develop until later in infancy or childhood. Some people have problems with balance caused by dysfunction of the part of the inner ear that helps with balance and orientation (the vestibular system). Pendred syndrome is inherited in an autosomal recessive manner. Mutations in 3 genes are currently known to cause the condition (SLC26A4, FOXI1, and KCNJ10) and are found in about half of affected people. Other genes responsible for the condition have not yet been identified. Last updated: 11/24/2014

MalaCards based summary: Pendred Syndrome, also known as goiter-deafness syndrome, is related to foxi1-related pendred syndrome and kcnj10-related pendred syndrome, and has symptoms including sensorineural hearing impairment, hypothyroidism and goiter. An important gene associated with Pendred Syndrome is SLC26A4 (Solute Carrier Family 26 Member 4), and among its related pathways are Thyroxine (Thyroid Hormone) Production and Insulin secretion. Affiliated tissues include thyroid, and related mouse phenotypes are craniofacial and endocrine/exocrine gland.

Disease Ontology:11 An autosomal recessive disease characterized by bilateral prelingual sensorineural hearing loss and euthyroid goiter and that has material basis in homozygous or compound heterozygous mutation in the SLC26A4 gene on chromosome 7q.

Genetics Home Reference:25 Pendred syndrome is a disorder typically associated with hearing loss and a thyroid condition called a goiter. A goiter is an enlargement of the thyroid gland, which is a butterfly-shaped organ at the base of the neck that produces hormones. If a goiter develops in a person with Pendred syndrome, it usually forms between late childhood and early adulthood. In most cases, this enlargement does not cause the thyroid to malfunction.

OMIM:52 Pendred syndrome, the most common syndromal form of deafness, is an autosomal recessive disorder associated with... (274600) more...

UniProtKB/Swiss-Prot:70 Pendred syndrome: An autosomal recessive disorder characterized by congenital sensorineural hearing loss in association with thyroid goiter. The disorder may account for up to 10% of the cases of hereditary deafness. The deafness is most often associated with a Mondini cochlear defect. Deafness occurs early, starting at birth or during the first years of life. It is bilateral, sometimes asymmetrical, fluctuant and often progressive. Thyroid perturbations, such as thyroid goiter and/or hypothyroidism appear most commonly during adolescence, but they can be congenital or appear later.

Wikipedia:71 Pendred syndrome or Pendred disease is a genetic disorder leading to congenital bilateral (both sides)... more...

Related Diseases for Pendred Syndrome

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Diseases in the Pendred Syndrome family:

Foxi1-Related Pendred Syndrome Kcnj10-Related Pendred Syndrome
Slc26a4-Related Pendred Syndrome

Diseases related to Pendred Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 77)
idRelated DiseaseScoreTop Affiliating Genes
1foxi1-related pendred syndrome11.8
2kcnj10-related pendred syndrome11.8
3slc26a4-related pendred syndrome11.8
4parkinson disease, late-onset11.7
5pendred syndrome/dfnb411.5
6prolidase deficiency11.5
7ehlers-danlos syndrome, progeroid type, 111.0
8multiple system atrophy11.0
9corticobasal degeneration11.0
10pigment dispersion syndrome10.8
11kufor-rakeb syndrome10.7
12parkinson disease 19, juvenile-onset10.7
13parkinson disease 2110.7
14parkinson disease 1810.7
15dementia, lewy body10.7
16epilepsy, pyridoxine-dependent10.7
17convulsions, familial infantile, with paroxysmal choreoathetosis10.7
18parkinson disease 1710.7
19parkinson disease 20, early-onset10.7
20frontotemporal lobar degeneration with ubiquitin-positive inclusions10.7
21diphallia10.7
22hyperlipidemia type 310.7
23ovarian endometrioid cystadenoma10.6TG, TPO
24rhabdomyosarcoma, embryonal, 210.6TG, TPO
25peripheral scars of retina10.5TG, TPO
26phosphorylase kinase deficiency10.5FOXI1, KCNJ10, SLC26A4
27nodular goiter10.5TG, TPO
28sublingual gland cancer10.5GJB2, SLC26A4
29hyperglycemia10.5GJB2, MITF
30hyperimmunoglobulin syndrome10.5FOXI1, GJB2, SLC26A4
31nodular prostate10.5FOXI1, TG, TPO
32pyelitis10.5FOXI1, GJB2, SLC26A4
33hashimoto thyroiditis10.4SLC26A4, TG, TPO
34waardenburg syndrome, type 110.4MITF, PAX3
35thyroiditis10.4
36chronic frontal sinusitis10.3TG, TPO
37conjunctival cancer10.3MITF, PAX3
38dihydrolipoamide dehydrogenase deficiency10.3FOXI1, GJB2, KCNJ10, SLC26A4
39cataract 29, coralliform10.3AQP2, KCNJ10, SLC12A3
40hypertelorism, preauricular sinus, punctal pits, and deafness10.2TG, TPO
41acquired central diabetes insipidus10.2PAX8, SLC26A4, TG
42hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia10.2PAX8, SLC26A4, TG
43hyperaldosteronism10.2MITF, PAX3
44goiter10.2
45crohn's disease of the esophagus10.2PAX8, TG, TPO
46kidney benign neoplasm10.2PAX8, TG, TPO
47iatrogenic or traumatic pituitary deficiency10.1DUOX2, TG, TPO
48atrial standstill10.1PAX8, TG, TPO
49secretory diarrhea myopathy and deafness10.1SLC26A2, SLC26A3
50frontotemporal dementia and/or amyotrophic lateral sclerosis 410.1PAX8, TG, TPO

Graphical network of the top 20 diseases related to Pendred Syndrome:



Diseases related to pendred syndrome

Symptoms & Phenotypes for Pendred Syndrome

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Symptoms by clinical synopsis from OMIM:

274600

Clinical features from OMIM:

274600

Human phenotypes related to Pendred Syndrome:

 64 54 (show all 23)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorineural hearing impairment64 54 hallmark (90%) Very frequent (99-80%) HP:0000407
2 hypothyroidism64 54 typical (50%) Frequent (79-30%) HP:0000821
3 goiter64 54 typical (50%) Frequent (79-30%) HP:0000853
4 nephropathy64 54 occasional (7.5%) Occasional (29-5%) HP:0000112
5 hyperparathyroidism64 54 occasional (7.5%) Occasional (29-5%) HP:0000843
6 respiratory insufficiency64 54 occasional (7.5%) Occasional (29-5%) HP:0002093
7 neurological speech impairment64 54 occasional (7.5%) Occasional (29-5%) HP:0002167
8 incoordination64 occasional (7.5%) HP:0002311
9 vertigo64 54 occasional (7.5%) Occasional (29-5%) HP:0002321
10 tracheal stenosis64 54 occasional (7.5%) Occasional (29-5%) HP:0002777
11 neoplasm of the thyroid gland64 occasional (7.5%) HP:0100031
12 cognitive impairment64 occasional (7.5%) HP:0100543
13 intellectual disability64 54 Occasional (29-5%) HP:0001249
14 vestibular dysfunction64 HP:0001751
15 abnormality of metabolism/homeostasis64 HP:0001939
16 thyroid carcinoma64 54 Occasional (29-5%) HP:0002890
17 compensated hypothyroidism64 HP:0008223
18 congenital sensorineural hearing impairment64 HP:0008527
19 cochlear malformation64 HP:0008554
20 abnormality of the inner ear54 Very frequent (99-80%)
21 ataxia54 Occasional (29-5%)
22 hypoplasia of the cochlea54 Very frequent (99-80%)
23 enlarged vestibular aqueduct54 Very frequent (99-80%)

MGI Mouse Phenotypes related to Pendred Syndrome according to GeneCards Suite gene sharing:

41 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.0BAMBI, FOXI1, GJB2, MITF, PAX3, PAX8
2MP:00053799.0DUOX2, MITF, PAX3, PAX8, SLC26A3, SLC26A4
3MP:00053718.9BAMBI, GJB2, MITF, PAX3, PAX8, SLC26A2
4MP:00053778.5DUOX2, FOXI1, GJB2, KCNJ10, MITF, PAX3
5MP:00036318.5DUOX2, FOXI1, GJB2, KCNJ10, MITF, PAX3
6MP:00053678.0AQP2, FOXI1, KCNJ10, PAX3, PAX8, SLC12A3
7MP:00053897.9AQP2, DUOX2, FOXI1, GJB2, MITF, PAX8
8MP:00053907.4BAMBI, DUOX2, FOXI1, GJB2, MITF, PAX3
9MP:00107686.9AQP2, FOXI1, GJB2, KCNJ10, MITF, PAX3
10MP:00053766.1AQP2, DUOX2, FOXI1, GJB2, KCNJ10, MITF
11MP:00053785.3AQP2, BAMBI, DUOX2, GJB2, KCNJ10, MITF

Drugs & Therapeutics for Pendred Syndrome

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Clinical and Genetic Analysis of Enlarged Vestibular AqueductsRecruitingNCT00023036
2The Prevalence of Hearing Loss Among Children With Congenital HypothyroidismWithdrawnNCT01223638

Search NIH Clinical Center for Pendred Syndrome


Cochrane evidence based reviews: pendred syndrome

Genetic Tests for Pendred Syndrome

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Genetic tests related to Pendred Syndrome:

id Genetic test Affiliating Genes
1 Pendred's Syndrome27

Anatomical Context for Pendred Syndrome

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MalaCards organs/tissues related to Pendred Syndrome:

36
Thyroid

Publications for Pendred Syndrome

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Articles related to Pendred Syndrome:

(show top 50)    (show all 125)
idTitleAuthorsYear
1
Targeted Next-Generation Sequencing Analysis of a Pendred Syndrome-Associated Thyroid Carcinoma. (26744121)
2016
2
Cochlear implantation in Pendred syndrome and non-syndromic enlarged vestibular aqueduct - clinical challenges, surgical results, and complications. (27241825)
2016
3
Delayed diagnosis of Pendred syndrome. (27620717)
2016
4
Pendred Syndrome in a Newborn with Neck Swelling: A Case Report. (26936928)
2016
5
Patients with Pendred syndrome:is cochlear implantation beneficial? (26331303)
2015
6
Analysis of the Thyroid Phenotype in 42 Patients with Pendred Syndrome and Nonsyndromic Enlargement of the Vestibular Aqueduct. (24224479)
2014
7
Mutations in the Pendred Syndrome (PDS/SLC26A) Gene: An Increasingly Complex Phenotypic Spectrum From Goiter to Thyroid Hypoplasia. (24384016)
2014
8
Bipolar disorder in Pendred syndrome: a case report of two siblings. (24595510)
2014
9
A1555G homoplasmic mutation from A1555G heteroplasmic mother with Pendred syndrome. (25223473)
2014
10
Goiter and hearing impairment: A case of a male patient with Pendred syndrome. (25295090)
2014
11
Identification of a founder mutation for Pendred syndrome in families from northwest Iran. (25239229)
2014
12
Evaluation of genotype-phenotype relationships in patients referred for endocrine assessment in suspected Pendred syndrome. (25394566)
2014
13
Pathogenic substitution of IVS15 + 5G > A in SLC26A4 in patients of Okinawa Islands with enlarged vestibular aqueduct syndrome or Pendred syndrome. (23705809)
2013
14
Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in Pendred syndrome/enlarged vestibular aqueducts. (23965030)
2013
15
CT-Scans of Cochlear Implant Patients with Characteristics of Pendred Syndrome. (24429823)
2013
16
Compound Heterozygosity for Two Novel SLC26A4 Mutations in a Large Iranian Pedigree with Pendred Syndrome. (24353858)
2013
17
Pendred syndrome with retrosternal goitre- a rare case report. (24426607)
2013
18
Papillary thyroid carcinoma in one of identical twin patients with Pendred syndrome. (23459462)
2013
19
A Novel mutation in the SLC26A4 gene in a Chinese family with Pendred syndrome. (23838540)
2013
20
A novel insertion-induced frameshift mutation of the SLC26A4 gene in a Korean family with Pendred syndrome. (22884721)
2012
21
Novel heterozygous mutation c.662_663insG compound with IVS7-2A>G mutation in SLC26A4 gene in a Chinese family with Pendred syndrome. (22906308)
2012
22
Molecular and functional studies of 4 candidate loci in Pendred syndrome and nonsyndromic hearing loss. (22285650)
2012
23
Segregation of a new mutation in SLC26A4 and p.E47X mutation in GJB2 within a consanguineous Tunisian family affected with Pendred syndrome. (22429511)
2012
24
Cochlear implantation in Pendred syndrome. (21917203)
2011
25
Life-threatening metabolic alkalosis in Pendred syndrome. (21551164)
2011
26
Mutation analysis of SLC26A4 for Pendred syndrome and nonsyndromic hearing loss by high-resolution melting. (21704276)
2011
27
Clinical and molecular characteristics of Pendred syndrome. (21511235)
2011
28
An unfortunate case of Pendred syndrome. (21745434)
2011
29
Novel splice-site mutation c.1615-2A>G (IVS14-2A>G) in the SLC26A4 gene causing Pendred syndrome in a consanguineous Portuguese family. (21416585)
2011
30
Genetics and phenomics of Pendred syndrome. (20298745)
2010
31
Pendred syndrome in Tunisia. (20822748)
2010
32
Novel human pathological mutations. Gene symbol: SLC26A4. Disease: Pendred syndrome. (21488234)
2010
33
A patient with Pendred syndrome whose goiter progressed with normal serum thyrotropin and iodine organification. (20583162)
2010
34
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. (19648736)
2010
35
Congenital goitrous hypothyroidism, deafness and iodide organification defect in four siblings: Pendred or pseudo-Pendred syndrome? (21274344)
2010
36
Genetic causes of goiter and deafness: Pendred syndrome in a girl and cooccurrence of Pendred syndrome and resistance to thyroid hormone in her sister. (19318451)
2009
37
Functional characterization of wild-type and mutated pendrin (SLC26A4), the anion transporter involved in Pendred syndrome. (19608655)
2009
38
Do mutations of the Pendred syndrome gene, SLC26A4, confer resistance to asthma and hypertension? (19289392)
2009
39
Thyroidectomy in a patient with multinodular dyshormonogenetic goitre--a case of Pendred syndrome confirmed by mutations in the PDS/SLC26A4 gene. (19189692)
2008
40
Phenotypes of SLC26A4 gene mutations: Pendred syndrome and hypoacusis with enlarged vestibular aqueduct. (18283249)
2008
41
Pendred syndrome and iodide transport in the thyroid. (18692402)
2008
42
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. (18285825)
2008
43
Pendred syndrome among patients with congenital hypothyroidism detected by neonatal screening: identification of two novel PDS/SLC26A4 mutations. (17876604)
2008
44
Goitre and hearing impairment in a patient with Pendred syndrome. (18349467)
2008
45
Pendred syndrome in two Galician families: insights into clinical phenotypes through cellular, genetic, and molecular studies. (17940114)
2008
46
Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA. (19017801)
2008
47
Profound hypokalemia and hypochloremic metabolic alkalosis during thiazide therapy in a child with Pendred syndrome. (18538122)
2008
48
Free radical stress-mediated loss of Kcnj10 protein expression in stria vascularis contributes to deafness in Pendred syndrome mouse model. (17959752)
2008
49
Pendred syndrome in a large consanguineous Brazilian family caused by a homozygous mutation in the SLC26A4 gene. (19169484)
2008
50
Two common and three novel PDS mutations in Thai patients with Pendred syndrome. (18250610)
2007

Variations for Pendred Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Pendred Syndrome:

70 (show all 43)
id Symbol AA change Variation ID SNP ID
1SLC26A4p.Gly209ValVAR_007440rs111033303
2SLC26A4p.Leu236ProVAR_007441rs80338848
3SLC26A4p.Glu384GlyVAR_007444rs111033244
4SLC26A4p.Thr416ProVAR_007445rs28939086
5SLC26A4p.Phe667CysVAR_007447rs121908360
6SLC26A4p.Thr721MetVAR_007448rs121908363
7SLC26A4p.His723ArgVAR_007449rs121908362
8SLC26A4p.Thr193IleVAR_011623rs111033348
9SLC26A4p.Leu445TrpVAR_011624rs111033307
10SLC26A4p.Ser28ArgVAR_021639rs539699299
11SLC26A4p.Glu29GlnVAR_021640rs111033205
12SLC26A4p.Tyr78CysVAR_021641
13SLC26A4p.Gly102ArgVAR_021643
14SLC26A4p.Tyr105CysVAR_021645
15SLC26A4p.Ala106AspVAR_021646
16SLC26A4p.Leu117PheVAR_021647rs145254330
17SLC26A4p.Ser133ThrVAR_021649rs121908365
18SLC26A4p.Ser137ProVAR_021650
19SLC26A4p.Val138PheVAR_021651rs111033199
20SLC26A4p.Gly139AlaVAR_021652
21SLC26A4p.Val239AspVAR_021653rs111033256
22SLC26A4p.Asp271HisVAR_021655
23SLC26A4p.Phe335LeuVAR_021656rs111033212
24SLC26A4p.Ser391AsnVAR_021657
25SLC26A4p.Arg409HisVAR_021659rs111033305
26SLC26A4p.Thr410MetVAR_021661rs111033220
27SLC26A4p.Ala411ProVAR_021662
28SLC26A4p.Gln446ArgVAR_021665rs768471577
29SLC26A4p.Val480AspVAR_021668
30SLC26A4p.Tyr530HisVAR_021670rs111033254
31SLC26A4p.Ser552IleVAR_021671
32SLC26A4p.Tyr556CysVAR_021672rs763006761
33SLC26A4p.Tyr556HisVAR_021673
34SLC26A4p.Cys565TyrVAR_021674rs111033257
35SLC26A4p.Val653AlaVAR_021676
36SLC26A4p.Gly672GluVAR_021677rs111033309
37SLC26A4p.Ser694ProVAR_021680
38SLC26A4p.Asp724AsnVAR_021681
39SLC26A4p.Thr508AsnVAR_027240
40SLC26A4p.Gln514ArgVAR_027241rs111033316
41SLC26A4p.Tyr530SerVAR_027242rs747636919
42SLC26A4p.Val402MetVAR_058580rs397516414
43SLC26A4p.Met775ThrVAR_058581

Clinvar genetic disease variations for Pendred Syndrome:

5 (show all 124)
id Gene Variation Type Significance SNP ID Assembly Location
1SLC26A4NM_000441.1(SLC26A4): c.-4+5G> ASNVLikely pathogenicrs727503425GRCh37Chr 7, 107301305: 107301305
2SLC26A4NM_000441.1(SLC26A4): c.1554G> A (p.Trp518Ter)SNVPathogenicrs727503428GRCh37Chr 7, 107338496: 107338496
3SLC26A4NM_000441.1(SLC26A4): c.2089+1G> ASNVLikely pathogenic, Pathogenicrs727503430GRCh37Chr 7, 107344831: 107344831
4SLC26A4NM_000441.1(SLC26A4): c.2215C> T (p.Gln739Ter)SNVLikely pathogenic, Pathogenicrs727503431GRCh37Chr 7, 107350624: 107350624
5SLC26A4NM_000441.1(SLC26A4): c.1614+1G> CSNVPathogenicrs111033312GRCh37Chr 7, 107338557: 107338557
6SLC26A4NM_000441.1(SLC26A4): c.1707+6T> CSNVLikely pathogenicrs727505230GRCh38Chr 7, 107700181: 107700181
7SLC26A4NM_000441.1(SLC26A4): c.279delT (p.Ser93Argfs)deletionLikely pathogenicrs786204421GRCh37Chr 7, 107303855: 107303855
8SLC26A4NM_000441.1(SLC26A4): c.3G> C (p.Met1Ile)SNVLikely pathogenicrs786204426GRCh38Chr 7, 107661644: 107661644
9SLC26A4NM_000441.1(SLC26A4): c.1547dupC (p.Ser517Phefs)duplicationLikely pathogenicrs786204450GRCh37Chr 7, 107338489: 107338489
10SLC26A4NM_000441.1(SLC26A4): c.165-2A> GSNVLikely pathogenicrs786204458GRCh37Chr 7, 107303739: 107303739
11SLC26A4NM_000441.1(SLC26A4): c.1079C> T (p.Ala360Val)SNVLikely pathogenicrs786204474GRCh37Chr 7, 107329575: 107329575
12SLC26A4NM_000441.1(SLC26A4): c.1919G> A (p.Trp640Ter)SNVLikely pathogenicrs786204502GRCh37Chr 7, 107342387: 107342387
13SLC26A4NM_000441.1(SLC26A4): c.164+1delGdeletionLikely pathogenicrs786204504GRCh38Chr 7, 107661806: 107661806
14SLC26A4NM_000441.1(SLC26A4): c.269C> T (p.Ser90Leu)SNVLikely pathogenicrs370588279GRCh38Chr 7, 107663400: 107663400
15SLC26A4NM_000441.1(SLC26A4): c.2127delT (p.Phe709Leufs)deletionLikely pathogenicrs786204523GRCh37Chr 7, 107350536: 107350536
16SLC26A4NM_000441.1(SLC26A4): c.554G> C (p.Arg185Thr)SNVLikely pathogenic, Pathogenicrs542620119GRCh37Chr 7, 107314747: 107314747
17SLC26A4NM_000441.1(SLC26A4): c.1975G> C (p.Val659Leu)SNVLikely pathogenicrs200455203GRCh38Chr 7, 107701998: 107701998
18SLC26A4NM_000441.1(SLC26A4): c.235C> T (p.Arg79Ter)SNVLikely pathogenicrs786204581GRCh38Chr 7, 107663366: 107663366
19SLC26A4NM_000441.1(SLC26A4): c.890delC (p.Pro297Glnfs)deletionLikely pathogenicrs786204600GRCh37Chr 7, 107323771: 107323771
20SLC26A4NM_000441.1(SLC26A4): c.1520delT (p.Leu507Terfs)deletionLikely pathogenicrs786204601GRCh37Chr 7, 107336460: 107336460
21SLC26A4NM_000441.1(SLC26A4): c.84C> A (p.Ser28Arg)SNVLikely pathogenicrs539699299GRCh37Chr 7, 107302170: 107302170
22SLC26A4NM_000441.1(SLC26A4): c.1920G> A (p.Trp640Ter)SNVLikely pathogenicrs368119540GRCh37Chr 7, 107342388: 107342388
23SLC26A4NM_000441.1(SLC26A4): c.1001G> T (p.Gly334Val)SNVLikely pathogenicrs146281367GRCh38Chr 7, 107683537: 107683537
24SLC26A4NM_000441.1(SLC26A4): c.365dupT (p.Ile124Tyrfs)duplicationLikely pathogenicrs786204730GRCh38Chr 7, 107672198: 107672198
25SLC26A4NM_000441.1(SLC26A4): c.1586T> G (p.Ile529Ser)SNVLikely pathogenicrs786204739GRCh37Chr 7, 107338528: 107338528
26SLC26A4NM_000441.1(SLC26A4): c.2086C> T (p.Gln696Ter)SNVLikely pathogenicrs752807925GRCh37Chr 7, 107344827: 107344827
27SLC26A4NM_000441.1(SLC26A4): c.304+2T> CSNVLikely pathogenicrs746238617GRCh37Chr 7, 107303882: 107303882
28SLC26A4NM_000441.1(SLC26A4): c.1544+1G> ASNVLikely pathogenic, Pathogenicrs876657722GRCh38Chr 7, 107696040: 107696040
29SLC26A4NM_000441.1(SLC26A4): c.2171A> G (p.Asp724Gly)SNVPathogenicrs757820624GRCh37Chr 7, 107350580: 107350580
30SLC26A4NM_000441.1(SLC26A4): c.2224delA (p.Ile742Phefs)deletionPathogenicrs876657723GRCh38Chr 7, 107710188: 107710188
31SLC26A4NM_000441.1(SLC26A4): c.578C> T (p.Thr193Ile)SNV, CompoundHeterozygotePathogenicrs111033348GRCh37Chr 7, 107314771: 107314771
32SLC26A4NM_000441.1(SLC26A4): c.1222delT (p.Ser408Profs)deletionPathogenicrs886043058GRCh37Chr 7, 107330641: 107330641
33SLC26A4NM_000441.1(SLC26A4): c.382_384delTTTinsAA (p.Phe128Lysfs)indelPathogenicrs886044696GRCh37Chr 7, 107312660: 107312662
34SLC26A4NM_000441.1: c.1238A> GSNVLikely pathogenicChr na, -1: -1
35SLC26A4NM_000441.1: c.918+2T> CSNVLikely pathogenicChr na, -1: -1
36SLC26A4NM_000441.1: c.1595G> TSNVLikely pathogenicChr na, -1: -1
37SLC26A4NM_000441.1: c.1001+1G> TSNVLikely pathogenicChr na, -1: -1
38SLC26A4NM_000441.1: c.916dupGduplicationLikely pathogenicChr na, -1: -1
39SLC26A4NM_000441.1: c.1238delAdeletionLikely pathogenicChr na, -1: -1
40SLC26A4NM_000441.1: c.1341+1G> CSNVPathogenicChr na, -1: -1
41SLC26A4NM_000441.1: c.1181_1183delTCTdeletionLikely pathogenicChr na, -1: -1
42SLC26A4NM_000441.1: c.1539_1544+6del12deletionLikely pathogenicChr na, -1: -1
43SLC26A4NM_000441.1: c.1160C> TSNVLikely pathogenicChr na, -1: -1
44SLC26A4NM_000441.1: c.55delAdeletionLikely pathogenicChr na, -1: -1
45SLC26A4NM_000441.1: c.1966delCdeletionLikely pathogenicChr na, -1: -1
46SLC26A4NM_000441.1: c.249G> ASNVPathogenicChr na, -1: -1
47SLC26A4NM_000441.1: c.619C> TSNVLikely pathogenicChr na, -1: -1
48SLC26A4NM_000441.1: c.1438-2A> GSNVLikely pathogenicChr na, -1: -1
49SLC26A4NM_000441.1: c.2067delTdeletionLikely pathogenicChr na, -1: -1
50SLC26A4NM_000441.1: c.600+2T> ASNVPathogenicChr na, -1: -1
51SLC26A4NM_000441.1: c.281C> TSNVPathogenicChr na, -1: -1
52SLC26A4NM_000441.1: c.416-1G> ASNVPathogenicChr na, -1: -1
53SLC26A4NM_000441.1: c.1263+1G> TSNVLikely pathogenicChr na, -1: -1
54SLC26A4NM_000441.1: c.1173C> ASNVLikely pathogenicChr na, -1: -1
55SLC26A4NM_000441.1: c.2319+1G> ASNVLikely pathogenicChr na, -1: -1
56SLC26A4NM_000441.1: c.1263+1G> ASNVLikely pathogenicChr na, -1: -1
57SLC26A4NM_000441.1: c.1949T> ASNVLikely pathogenicChr na, -1: -1
58SLC26A4NM_000441.1: c.142G> TSNVLikely pathogenicChr na, -1: -1
59SLC26A4NM_000441.1: c.858_865del8deletionLikely pathogenicChr na, -1: -1
60SLC26A4NM_000441.1: c.1225C> TSNVLikely pathogenicChr na, -1: -1
61SLC26A4NM_000441.1: c.1342-1G> TSNVLikely pathogenicChr na, -1: -1
62SLC26A4NM_000441.1: c.2228T> ASNVPathogenicChr na, -1: -1
63SLC26A4NM_000441.1(SLC26A4): c.-3-2A> GSNVPathogenicrs397516411GRCh37Chr 7, 107302082: 107302082
64SLC26A4NM_000441.1(SLC26A4): c.1149+3A> GSNVPathogenicrs111033314GRCh37Chr 7, 107329648: 107329648
65SLC26A4NM_000441.1(SLC26A4): c.1198delT (p.Cys400Valfs)deletionLikely pathogenic, Pathogenicrs397516413GRCh37Chr 7, 107330617: 107330617
66SLC26A4NM_000441.1(SLC26A4): c.1204G> A (p.Val402Met)SNVLikely pathogenicrs397516414GRCh37Chr 7, 107330623: 107330623
67SLC26A4NM_000441.1(SLC26A4): c.1226G> A (p.Arg409His)SNVPathogenicrs111033305GRCh37Chr 7, 107330645: 107330645
68SLC26A4NM_000441.1(SLC26A4): c.1226G> C (p.Arg409Pro)SNVLikely pathogenicrs111033305GRCh37Chr 7, 107330645: 107330645
69SLC26A4NM_000441.1(SLC26A4): c.1229C> T (p.Thr410Met)SNVPathogenicrs111033220GRCh37Chr 7, 107330648: 107330648
70SLC26A4NM_000441.1(SLC26A4): c.1264-1G> CSNVLikely pathogenic, Pathogenicrs111033311GRCh37Chr 7, 107334847: 107334847
71SLC26A4NM_000441.1(SLC26A4): c.1284_1286delTGC (p.Ala429del)deletionLikely pathogenic, Pathogenicrs111033306GRCh37Chr 7, 107334868: 107334870
72SLC26A4NM_000441.1(SLC26A4): c.1336C> T (p.Gln446Ter)SNVLikely pathogenic, Pathogenicrs397516416GRCh37Chr 7, 107334920: 107334920
73SLC26A4NM_000441.1(SLC26A4): c.1341+1delGdeletionPathogenicrs397516417GRCh37Chr 7, 107334926: 107334926
74SLC26A4NM_000441.1(SLC26A4): c.1342-2_1343dupAGTCduplicationPathogenicrs111033407GRCh37Chr 7, 107335064: 107335067
75SLC26A4NM_000441.1(SLC26A4): c.1437+2T> GSNVLikely pathogenic, Pathogenicrs397516418GRCh37Chr 7, 107335163: 107335163
76SLC26A4NM_000441.1(SLC26A4): c.1489G> A (p.Gly497Ser)SNVLikely pathogenic, Pathogenicrs111033308GRCh37Chr 7, 107336429: 107336429
77SLC26A4NM_000441.1(SLC26A4): c.1541A> G (p.Gln514Arg)SNVLikely pathogenic, Pathogenicrs111033316GRCh37Chr 7, 107336481: 107336481
78SLC26A4NM_000441.1(SLC26A4): c.1548_1549insC (p.Ser517Leufs)insertionLikely pathogenicrs111033317GRCh37Chr 7, 107338490: 107338491
79SLC26A4NM_000441.1(SLC26A4): c.1614+1G> ASNVPathogenicrs111033312GRCh37Chr 7, 107338557: 107338557
80SLC26A4NM_000441.1(SLC26A4): c.164+2T> CSNVPathogenicrs397516420GRCh37Chr 7, 107302252: 107302252
81SLC26A4NM_000441.1(SLC26A4): c.1694G> A (p.Cys565Tyr)SNVLikely pathogenicrs111033257GRCh37Chr 7, 107340607: 107340607
82SLC26A4NM_000441.1(SLC26A4): c.170C> G (p.Ser57Ter)SNVLikely pathogenicrs111033200GRCh37Chr 7, 107303746: 107303746
83SLC26A4NM_000441.1(SLC26A4): c.1963A> G (p.Ile655Val)SNVLikely pathogenicrs397516424GRCh37Chr 7, 107342431: 107342431
84SLC26A4NM_000441.1(SLC26A4): c.2015G> A (p.Gly672Glu)SNVPathogenicrs111033309GRCh37Chr 7, 107342483: 107342483
85SLC26A4NM_000441.1(SLC26A4): c.2027T> A (p.Leu676Gln)SNVLikely pathogenic, Pathogenicrs111033318GRCh37Chr 7, 107342495: 107342495
86SLC26A4NM_000441.1(SLC26A4): c.2145G> T (p.Lys715Asn)SNVLikely pathogenicrs397516427GRCh37Chr 7, 107350554: 107350554
87SLC26A4NM_000441.1(SLC26A4): c.2188C> T (p.Gln730Ter)SNVPathogenicrs397516428GRCh37Chr 7, 107350597: 107350597
88SLC26A4NM_000441.1(SLC26A4): c.294_298delCACGC (p.Thr99Alafs)deletionLikely pathogenic, Pathogenicrs111033241GRCh37Chr 7, 107303870: 107303874
89SLC26A4NM_000441.1(SLC26A4): c.2T> C (p.Met1Thr)SNVPathogenicrs111033302GRCh37Chr 7, 107302088: 107302088
90SLC26A4NM_000441.1(SLC26A4): c.397_398delTCinsA (p.Ser133Lysfs)indelLikely pathogenicrs111033400GRCh37Chr 7, 107312675: 107312676
91SLC26A4NM_000441.1(SLC26A4): c.589G> A (p.Gly197Arg)SNVLikely pathogenicrs111033380GRCh37Chr 7, 107314782: 107314782
92SLC26A4NM_000441.1(SLC26A4): c.68C> A (p.Ser23Ter)SNVLikely pathogenic, Pathogenicrs397516430GRCh37Chr 7, 107302154: 107302154
93SLC26A4NM_000441.1(SLC26A4): c.706C> G (p.Leu236Val)SNVLikely pathogenicrs111033242GRCh37Chr 7, 107315495: 107315495
94SLC26A4NM_000441.1(SLC26A4): c.716T> A (p.Val239Asp)SNVLikely pathogenic, Pathogenicrs111033256GRCh37Chr 7, 107315505: 107315505
95SLC26A4NM_000441.1(SLC26A4): c.765+2T> CSNVPathogenicrs397516432GRCh37Chr 7, 107315556: 107315556
96SLC26A4NM_000441.1(SLC26A4): c.845G> A (p.Cys282Tyr)SNVLikely pathogenicrs111033454GRCh37Chr 7, 107323726: 107323726
97SLC26A4NM_000441.1(SLC26A4): c.85G> T (p.Glu29Ter)SNVLikely pathogenicrs111033205GRCh37Chr 7, 107302171: 107302171
98SLC26A4NM_000441.1(SLC26A4): c.918+1G> TSNVLikely pathogenicrs111033245GRCh37Chr 7, 107323800: 107323800
99SLC26A4NM_000441.1(SLC26A4): c.2000T> G (p.Phe667Cys)SNVPathogenicrs121908360GRCh37Chr 7, 107342468: 107342468
100SLC26A4SLC26A4, 1-BP DEL, 1565GdeletionPathogenicChr na, -1: -1
101SLC26A4SLC26A4, 1-BP DEL, 1421TdeletionPathogenicChr na, -1: -1
102SLC26A4NM_000441.1(SLC26A4): c.707T> C (p.Leu236Pro)SNVPathogenicrs80338848GRCh37Chr 7, 107315496: 107315496
103SLC26A4NM_000441.1(SLC26A4): c.1246A> C (p.Thr416Pro)SNVPathogenicrs28939086GRCh37Chr 7, 107330665: 107330665
104SLC26A4NM_000441.1(SLC26A4): c.1001+1G> ASNVPathogenicrs80338849GRCh37Chr 7, 107323983: 107323983
105SLC26A4NM_000441.1(SLC26A4): c.1151A> G (p.Glu384Gly)SNVPathogenicrs111033244GRCh37Chr 7, 107330570: 107330570
106SLC26A4NM_000441.1(SLC26A4): c.626G> T (p.Gly209Val)SNVPathogenicrs111033303GRCh37Chr 7, 107315415: 107315415
107SLC26A4NM_000441.1(SLC26A4): c.2168A> G (p.His723Arg)SNVPathogenicrs121908362GRCh37Chr 7, 107350577: 107350577
108SLC26A4NM_000441.1(SLC26A4): c.2162C> T (p.Thr721Met)SNVLikely pathogenic, Pathogenicrs121908363GRCh37Chr 7, 107350571: 107350571
109SLC26A4SLC26A4, 1-BP DEL, 279TdeletionPathogenicChr na, -1: -1
110SLC26A4SLC26A4, IVS4DS, A-G, +7SNVPathogenicChr na, -1: -1
111SLC26A4NM_000441.1(SLC26A4): c.1334T> G (p.Leu445Trp)SNVPathogenicrs111033307GRCh37Chr 7, 107334918: 107334918
112SLC26A4SLC26A4, 1-BP DEL, 1197TdeletionPathogenicChr na, -1: -1
113SLC26A4SLC26A4, 1-BP INS, 2182GinsertionPathogenicChr na, -1: -1
114SLC26A4SLC26A4, IVS8, C-G, 1002-4SNVPathogenicChr na, -1: -1
115SLC26A4NM_000441.1(SLC26A4): c.397T> A (p.Ser133Thr)SNVPathogenicrs121908365GRCh37Chr 7, 107312675: 107312675
116SLC26A4NM_000441.1(SLC26A4): c.412G> T (p.Val138Phe)SNVPathogenicrs111033199GRCh37Chr 7, 107312690: 107312690
117SLC26A4NM_000441.1(SLC26A4): c.1588T> C (p.Tyr530His)SNVLikely pathogenic, Pathogenicrs111033254GRCh37Chr 7, 107338530: 107338530
118SLC26A4NM_000441.1(SLC26A4): c.-103T> CSNVPathogenicrs60284988GRCh37Chr 7, 107301201: 107301201
119SLC26A4NM_000441.1(SLC26A4): c.85G> C (p.Glu29Gln)SNVLikely pathogenic, Pathogenicrs111033205GRCh37Chr 7, 107302171: 107302171
120SLC26A4NM_000441.1(SLC26A4): c.919-2A> GSNVPathogenicrs111033313GRCh37Chr 7, 107323898: 107323898
121SLC26A4NM_000441.1(SLC26A4): c.1003T> C (p.Phe335Leu)SNVLikely pathogenic, Pathogenicrs111033212GRCh37Chr 7, 107329499: 107329499
122FOXI1NM_012188.4(FOXI1): c.773G> A (p.Gly258Glu)SNVPathogenicrs121909340GRCh37Chr 5, 169535251: 169535251
123FOXI1NM_012188.4(FOXI1): c.800G> A (p.Arg267Gln)SNVPathogenicrs121909341GRCh37Chr 5, 169535278: 169535278
124SLC26A4NM_000441.1(SLC26A4): c.997dupA (p.Arg333Lysfs)duplicationPathogenicrs431905486GRCh37Chr 7, 107323978: 107323978

Expression for genes affiliated with Pendred Syndrome

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Search GEO for disease gene expression data for Pendred Syndrome.

Pathways for genes affiliated with Pendred Syndrome

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GO Terms for genes affiliated with Pendred Syndrome

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Cellular components related to Pendred Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1basolateral plasma membraneGO:00163239.3AQP2, KCNJ10, SLC26A5, SLC4A1
2apical plasma membraneGO:00163249.3AQP2, DUOX2, SLC12A3, SLC26A3, SLC26A4
3integral component of plasma membraneGO:00058877.1AQP2, KCNJ10, PTPRJ, SLC12A3, SLC26A2, SLC26A3
4plasma membraneGO:00058865.2AQP2, BAMBI, DUOX2, GJB2, KCNJ10, PTPRJ

Biological processes related to Pendred Syndrome according to GeneCards Suite gene sharing:

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1iodide transportGO:001570510.8SLC26A4, TG
2hydrogen peroxide catabolic processGO:004274410.7DUOX2, TPO
3sulfate transportGO:000827210.5SLC26A2, SLC26A4
4hormone biosynthetic processGO:004244610.5DUOX2, TG, TPO
5anion transportGO:000682010.3SLC26A3, SLC4A1
6oxalate transportGO:001953210.2SLC26A2, SLC26A3, SLC26A4, SLC26A5
7ion transportGO:000681110.0SLC12A3, SLC26A2, SLC26A3, SLC26A4
8thyroid gland developmentGO:003087810.0DUOX2, PAX8, TG
9thyroid hormone metabolic processGO:004240310.0DUOX2, TG
10sulfate transmembrane transportGO:19023589.9SLC26A2, SLC26A3, SLC26A4, SLC26A5
11thyroid hormone generationGO:00065909.9DUOX2, TG, TPO
12regulation of membrane potentialGO:00423919.8KCNJ10, SLC26A2, SLC26A3, SLC26A4, SLC26A5
13sensory perception of soundGO:00076059.8GJB2, PAX3, SLC26A4, SLC26A5
14bicarbonate transportGO:00157019.6SLC26A2, SLC26A3, SLC26A4, SLC26A5, SLC4A1
15regulation of intracellular pHGO:00514539.5SLC26A2, SLC26A3, SLC26A4, SLC26A5, SLC4A1
16positive regulation of transcription, DNA-templatedGO:00458939.2BAMBI, FOXI1, MITF, PAX3, PAX8
17chloride transmembrane transportGO:19024769.2SLC12A3, SLC26A2, SLC26A3, SLC26A4, SLC26A5, SLC4A1

Molecular functions related to Pendred Syndrome according to GeneCards Suite gene sharing:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1peroxidase activityGO:000460110.3DUOX2, TPO
2inorganic anion exchanger activityGO:000545210.1SLC26A3, SLC4A1
3chloride channel activityGO:000525410.0SLC26A2, SLC26A3, SLC26A4, SLC26A5
4oxalate transmembrane transporter activityGO:00195319.9SLC26A2, SLC26A3, SLC26A4, SLC26A5
5chloride transmembrane transporter activityGO:00151089.9SLC26A3, SLC26A4, SLC4A1
6secondary active sulfate transmembrane transporter activityGO:00082719.7SLC26A2, SLC26A3, SLC26A4, SLC26A5
7sulfate transmembrane transporter activityGO:00151169.5SLC26A2, SLC26A3, SLC26A4, SLC26A5
8anion:anion antiporter activityGO:00153019.4SLC26A2, SLC26A3, SLC26A4, SLC26A5, SLC4A1
9bicarbonate transmembrane transporter activityGO:00151069.4SLC26A2, SLC26A3, SLC26A4, SLC26A5, SLC4A1

Sources for Pendred Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet