PDS
MCID: PND002
MIFTS: 55

Pendred Syndrome (PDS) 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, 13DISEASES, 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 13
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 Array, Array and Array. 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 reproductive system.

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 95)
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
7multiple system atrophy11.0
8personality disorder11.0
9corticobasal degeneration11.0
10spondylodysplastic ehlers-danlos syndrome10.9
11pigment dispersion syndrome10.8
12ehlers-danlos syndrome, progeroid type, 110.8
13kufor-rakeb syndrome10.7
14parkinson disease 19, juvenile-onset10.7
15parkinson disease 2110.7
16parkinson disease 1810.7
17dementia, lewy body10.7
18epilepsy, pyridoxine-dependent10.7
19convulsions, familial infantile, with paroxysmal choreoathetosis10.7
20parkinson disease 1710.7
21parkinson disease 20, early-onset10.7
22frontotemporal lobar degeneration with ubiquitin-positive inclusions10.7
23diphallia10.7
24thyroiditis10.4
25panic disorder 310.3GJB2, SLC26A4
26sturge-weber syndrome, somatic, mosaic10.3GJB2, SLC26A4
27charcot-marie-tooth disease, type 1d10.3GJB2, SLC26A4
28fibrous meningioma10.3TG, TPO
29background diabetic retinopathy10.3TG, TPO
30molluscum contagiosum10.3GJB2, SLC26A4
31krabbe disease10.3TG, TPO
32omenn syndrome10.3GJB2, SLC26A4
33prothrombin-related thrombophilia10.3FOXI1, KCNJ10, SLC26A4
34tick paralysis10.2TG, TPO
35bartter syndrome, type 110.2GJB2, SLC26A4
36cockayne syndrome10.2FOXI1, GJB2, SLC26A4
37narcissistic personality disorder10.2FOXI1, GJB2, SLC26A4
38frontal sinusitis10.2TG, TPO
39femoral neuropathy10.2GJB2, MITF
40conjunctival deposit10.2TG, TPO
41goiter10.2
42tmem70 defect10.2PAX8, TG
43autosomal dominant nonsyndromic deafness 6910.2GJB2, SLC26A4
44diabetes mellitus, insulin-dependent, 1210.2SLC26A4, TG, TPO
45bladder flat intraepithelial lesion10.2PAX8, TG
46endemic goiter10.2TG, TPO
47waardenburg syndrome, type 310.2MITF, PAX3
48duodenum cancer10.1GJB2, MITF, SLC26A4
49mixed eosinophil-basophil adenoma10.1TG, TPO
50hypothyroidism, congenital, nongoitrous, 110.1TG, 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:

 54 64 (show all 20)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nephropathy64 54 Occasional (29-5%) HP:0000112
2 abnormality of the inner ear54 Very frequent (99-80%)
3 sensorineural hearing impairment64 54 Very frequent (99-80%) HP:0000407
4 hypothyroidism64 54 Frequent (79-30%) HP:0000821
5 hyperparathyroidism64 54 Occasional (29-5%) HP:0000843
6 goiter64 54 Frequent (79-30%) HP:0000853
7 intellectual disability64 54 Occasional (29-5%) HP:0001249
8 ataxia64 54 Occasional (29-5%) HP:0001251
9 respiratory insufficiency64 54 Occasional (29-5%) HP:0002093
10 neurological speech impairment64 54 Occasional (29-5%) HP:0002167
11 vertigo64 54 Occasional (29-5%) HP:0002321
12 tracheal stenosis64 54 Occasional (29-5%) HP:0002777
13 thyroid carcinoma64 54 Occasional (29-5%) HP:0002890
14 hypoplasia of the cochlea64 54 Very frequent (99-80%) HP:0008586
15 enlarged vestibular aqueduct64 54 Very frequent (99-80%) HP:0011387
16 vestibular dysfunction64 HP:0001751
17 abnormality of metabolism/homeostasis64 HP:0001939
18 compensated hypothyroidism64 HP:0008223
19 congenital sensorineural hearing impairment64 HP:0008527
20 cochlear malformation64 HP:0008554

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

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.2BAMBI, FOXI1, GJB2, MITF, PAX3, PAX8
2MP:00053898.2DUOX2, FOXI1, GJB2, MITF, PAX8, PTPRJ
3MP:00053718.1BAMBI, GJB2, MITF, PAX3, PAX8, SLC26A2
4MP:00053798.0DUOX2, MITF, PAX3, PAX8, SLC26A3, SLC26A4
5MP:00053777.4DUOX2, FOXI1, GJB2, KCNJ10, MITF, PAX3
6MP:00036317.4DUOX2, FOXI1, GJB2, KCNJ10, MITF, PAX3
7MP:00107687.1FOXI1, GJB2, KCNJ10, MITF, PAX3, PAX8
8MP:00053766.6DUOX2, FOXI1, GJB2, KCNJ10, MITF, PAX3
9MP:00053906.4BAMBI, DUOX2, FOXI1, GJB2, MITF, PAX3
10MP:00053785.8BAMBI, DUOX2, GJB2, KCNJ10, MITF, PAX3

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 126)
idTitleAuthorsYear
1
Exome sequencing identifies SLC26A4, GJB2, SCARB2 and DUOX2 mutations in 2 siblings with Pendred syndrome in a Malaysian family. (28222800)
2017
2
Pendred Syndrome in a Newborn with Neck Swelling: A Case Report. (26936928)
2016
3
Cochlear implantation in Pendred syndrome and non-syndromic enlarged vestibular aqueduct - clinical challenges, surgical results, and complications. (27241825)
2016
4
Targeted Next-Generation Sequencing Analysis of a Pendred Syndrome-Associated Thyroid Carcinoma. (26744121)
2016
5
Delayed diagnosis of Pendred syndrome. (27620717)
2016
6
Patients with Pendred syndrome:is cochlear implantation beneficial? (26331303)
2015
7
Mutations in the Pendred Syndrome (PDS/SLC26A) Gene: An Increasingly Complex Phenotypic Spectrum From Goiter to Thyroid Hypoplasia. (24384016)
2014
8
Goiter and hearing impairment: A case of a male patient with Pendred syndrome. (25295090)
2014
9
Evaluation of genotype-phenotype relationships in patients referred for endocrine assessment in suspected Pendred syndrome. (25394566)
2014
10
Analysis of the Thyroid Phenotype in 42 Patients with Pendred Syndrome and Nonsyndromic Enlargement of the Vestibular Aqueduct. (24224479)
2014
11
Identification of a founder mutation for Pendred syndrome in families from northwest Iran. (25239229)
2014
12
A1555G homoplasmic mutation from A1555G heteroplasmic mother with Pendred syndrome. (25223473)
2014
13
Bipolar disorder in Pendred syndrome: a case report of two siblings. (24595510)
2014
14
CT-Scans of Cochlear Implant Patients with Characteristics of Pendred Syndrome. (24429823)
2013
15
Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in Pendred syndrome/enlarged vestibular aqueducts. (23965030)
2013
16
Pendred syndrome with retrosternal goitre- a rare case report. (24426607)
2013
17
Compound Heterozygosity for Two Novel SLC26A4 Mutations in a Large Iranian Pedigree with Pendred Syndrome. (24353858)
2013
18
A Novel mutation in the SLC26A4 gene in a Chinese family with Pendred syndrome. (23838540)
2013
19
Pathogenic substitution of IVS15 + 5G > A in SLC26A4 in patients of Okinawa Islands with enlarged vestibular aqueduct syndrome or Pendred syndrome. (23705809)
2013
20
Papillary thyroid carcinoma in one of identical twin patients with Pendred syndrome. (23459462)
2013
21
Segregation of a new mutation in SLC26A4 and p.E47X mutation in GJB2 within a consanguineous Tunisian family affected with Pendred syndrome. (22429511)
2012
22
Molecular and functional studies of 4 candidate loci in Pendred syndrome and nonsyndromic hearing loss. (22285650)
2012
23
Novel heterozygous mutation c.662_663insG compound with IVS7-2A>G mutation in SLC26A4 gene in a Chinese family with Pendred syndrome. (22906308)
2012
24
A novel insertion-induced frameshift mutation of the SLC26A4 gene in a Korean family with Pendred syndrome. (22884721)
2012
25
Clinical and molecular characteristics of Pendred syndrome. (21511235)
2011
26
Life-threatening metabolic alkalosis in Pendred syndrome. (21551164)
2011
27
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
28
An unfortunate case of Pendred syndrome. (21745434)
2011
29
Cochlear implantation in Pendred syndrome. (21917203)
2011
30
Mutation analysis of SLC26A4 for Pendred syndrome and nonsyndromic hearing loss by high-resolution melting. (21704276)
2011
31
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
32
Congenital goitrous hypothyroidism, deafness and iodide organification defect in four siblings: Pendred or pseudo-Pendred syndrome? (21274344)
2010
33
A patient with Pendred syndrome whose goiter progressed with normal serum thyrotropin and iodine organification. (20583162)
2010
34
Genetics and phenomics of Pendred syndrome. (20298745)
2010
35
Pendred syndrome in Tunisia. (20822748)
2010
36
Novel human pathological mutations. Gene symbol: SLC26A4. Disease: Pendred syndrome. (21488234)
2010
37
Functional characterization of wild-type and mutated pendrin (SLC26A4), the anion transporter involved in Pendred syndrome. (19608655)
2009
38
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
39
Do mutations of the Pendred syndrome gene, SLC26A4, confer resistance to asthma and hypertension? (19289392)
2009
40
Pendred syndrome in two Galician families: insights into clinical phenotypes through cellular, genetic, and molecular studies. (17940114)
2008
41
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
42
Thyroidectomy in a patient with multinodular dyshormonogenetic goitre--a case of Pendred syndrome confirmed by mutations in the PDS/SLC26A4 gene. (19189692)
2008
43
Pendred syndrome and iodide transport in the thyroid. (18692402)
2008
44
Free radical stress-mediated loss of Kcnj10 protein expression in stria vascularis contributes to deafness in Pendred syndrome mouse model. (17959752)
2008
45
Phenotypes of SLC26A4 gene mutations: Pendred syndrome and hypoacusis with enlarged vestibular aqueduct. (18283249)
2008
46
Pendred syndrome among patients with congenital hypothyroidism detected by neonatal screening: identification of two novel PDS/SLC26A4 mutations. (17876604)
2008
47
Goitre and hearing impairment in a patient with Pendred syndrome. (18349467)
2008
48
Profound hypokalemia and hypochloremic metabolic alkalosis during thiazide therapy in a child with Pendred syndrome. (18538122)
2008
49
Pendred syndrome in a large consanguineous Brazilian family caused by a homozygous mutation in the SLC26A4 gene. (19169484)
2008
50
Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA. (19017801)
2008

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 121)
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> ASNVPathogenic/ Likely pathogenicrs727503430GRCh37Chr 7, 107344831: 107344831
4SLC26A4NM_ 000441.1(SLC26A4): c.2215C> T (p.Gln739Ter)SNVPathogenic/ Likely 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 pathogenicrs786204426GRCh37Chr 7, 107302089: 107302089
9SLC26A4NM_ 000441.1(SLC26A4): c.1547dupC (p.Ser517Phefs)duplicationLikely pathogenicrs786204450GRCh38Chr 7, 107698044: 107698044
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 pathogenicrs786204504GRCh37Chr 7, 107302251: 107302251
14SLC26A4NM_ 000441.1(SLC26A4): c.269C> T (p.Ser90Leu)SNVLikely pathogenicrs370588279GRCh37Chr 7, 107303845: 107303845
15SLC26A4NM_ 000441.1(SLC26A4): c.2127delT (p.Phe709Leufs)deletionLikely pathogenicrs786204523GRCh37Chr 7, 107350536: 107350536
16SLC26A4NM_ 000441.1(SLC26A4): c.554G> C (p.Arg185Thr)SNVPathogenic/ Likely pathogenicrs542620119GRCh37Chr 7, 107314747: 107314747
17SLC26A4NM_ 000441.1(SLC26A4): c.1975G> C (p.Val659Leu)SNVLikely pathogenicrs200455203GRCh37Chr 7, 107342443: 107342443
18SLC26A4NM_ 000441.1(SLC26A4): c.235C> T (p.Arg79Ter)SNVLikely pathogenicrs786204581GRCh37Chr 7, 107303811: 107303811
19SLC26A4NM_ 000441.1(SLC26A4): c.890delC (p.Pro297Glnfs)deletionLikely pathogenicrs786204600GRCh37Chr 7, 107323771: 107323771
20SLC26A4NM_ 000441.1(SLC26A4): c.1520delT (p.Leu507Terfs)deletionLikely pathogenicrs786204601GRCh38Chr 7, 107696015: 107696015
21SLC26A4NM_ 000441.1(SLC26A4): c.84C> A (p.Ser28Arg)SNVLikely pathogenicrs539699299GRCh38Chr 7, 107661725: 107661725
22SLC26A4NM_ 000441.1(SLC26A4): c.1920G> A (p.Trp640Ter)SNVLikely pathogenicrs368119540GRCh37Chr 7, 107342388: 107342388
23SLC26A4NM_ 000441.1(SLC26A4): c.1001G> T (p.Gly334Val)SNVPathogenic/ Likely pathogenicrs146281367GRCh37Chr 7, 107323982: 107323982
24SLC26A4NM_ 000441.1(SLC26A4): c.365dupT (p.Ile124Tyrfs)duplicationLikely pathogenicrs786204730GRCh37Chr 7, 107312643: 107312643
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> ASNVPathogenic/ Likely 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(SLC26A4): c.1238A> G (p.Gln413Arg)SNVLikely pathogenicrs142498437GRCh38Chr 7, 107690212: 107690212
35SLC26A4NM_ 000441.1(SLC26A4): c.918+2T> CSNVLikely pathogenicrs912147281GRCh38Chr 7, 107683356: 107683356
36SLC26A4NM_ 000441.1(SLC26A4): c.1595G> T (p.Ser532Ile)SNVLikely pathogenicrs1057516243GRCh38Chr 7, 107698092: 107698092
37SLC26A4NM_ 000441.1(SLC26A4): c.1001+1G> TSNVLikely pathogenicrs80338849GRCh38Chr 7, 107683538: 107683538
38SLC26A4NM_ 000441.1(SLC26A4): c.916dupG (p.Val306Glyfs)duplicationLikely pathogenicrs1057516303GRCh38Chr 7, 107683352: 107683352
39SLC26A4NM_ 000441.1(SLC26A4): c.1238delA (p.Gln413Argfs)deletionLikely pathogenicrs1057516354GRCh37Chr 7, 107330657: 107330657
40SLC26A4NM_ 000441.1(SLC26A4): c.1341+1G> CSNVPathogenicrs376653349GRCh38Chr 7, 107694481: 107694481
41SLC26A4NM_ 000441.1(SLC26A4): c.1181_ 1183delTCT (p.Phe394del)deletionLikely pathogenicrs1057516508GRCh37Chr 7, 107330600: 107330602
42SLC26A4NM_ 000441.1(SLC26A4): c.1539_ 1544+6del12deletionLikely pathogenicrs1057516535GRCh37Chr 7, 107336479: 107336490
43SLC26A4NM_ 000441.1(SLC26A4): c.1160C> T (p.Ala387Val)SNVLikely pathogenicrs777333979GRCh37Chr 7, 107330579: 107330579
44SLC26A4NM_ 000441.1(SLC26A4): c.55delA (p.Ser19Alafs)deletionLikely pathogenicrs1057516634GRCh37Chr 7, 107302141: 107302141
45SLC26A4NM_ 000441.1(SLC26A4): c.1966delC (p.His656Ilefs)deletionLikely pathogenicrs1057516636GRCh38Chr 7, 107701989: 107701989
46SLC26A4NM_ 000441.1(SLC26A4): c.249G> A (p.Trp83Ter)SNVPathogenicrs1057516658GRCh38Chr 7, 107663380: 107663380
47SLC26A4NM_ 000441.1(SLC26A4): c.619C> T (p.Gln207Ter)SNVLikely pathogenicrs1057516678GRCh37Chr 7, 107315408: 107315408
48SLC26A4NM_ 000441.1(SLC26A4): c.1438-2A> GSNVLikely pathogenicrs1057516717GRCh38Chr 7, 107695931: 107695931
49SLC26A4NM_ 000441.1(SLC26A4): c.2067delT (p.Asn689Lysfs)deletionLikely pathogenicrs1057516796GRCh37Chr 7, 107344808: 107344808
50SLC26A4NM_ 000441.1(SLC26A4): c.600+2T> ASNVPathogenicrs1057516881GRCh37Chr 7, 107314795: 107314795
51SLC26A4NM_ 000441.1(SLC26A4): c.281C> T (p.Thr94Ile)SNVPathogenicrs1057516953GRCh38Chr 7, 107663412: 107663412
52SLC26A4NM_ 000441.1(SLC26A4): c.416-1G> ASNVPathogenicrs1057516988GRCh37Chr 7, 107314608: 107314608
53SLC26A4NM_ 000441.1(SLC26A4): c.1263+1G> TSNVLikely pathogenicrs1057517000GRCh38Chr 7, 107690238: 107690238
54SLC26A4NM_ 000441.1(SLC26A4): c.1173C> A (p.Ser391Arg)SNVLikely pathogenicrs1057517042GRCh37Chr 7, 107330592: 107330592
55SLC26A4NM_ 000441.1(SLC26A4): c.2319+1G> ASNVLikely pathogenicrs542079779GRCh38Chr 7, 107712623: 107712623
56SLC26A4NM_ 000441.1(SLC26A4): c.1263+1G> ASNVLikely pathogenicrs1057517000GRCh37Chr 7, 107330683: 107330683
57SLC26A4NM_ 000441.1(SLC26A4): c.1949T> A (p.Val650Asp)SNVLikely pathogenicrs1057517161GRCh38Chr 7, 107701972: 107701972
58SLC26A4NM_ 000441.1(SLC26A4): c.142G> T (p.Glu48Ter)SNVLikely pathogenicrs201636911GRCh37Chr 7, 107302228: 107302228
59SLC26A4NM_ 000441.1(SLC26A4): c.858_ 865delGGAATTAA (p.Glu287Terfs)deletionLikely pathogenicrs1057517246GRCh37Chr 7, 107323739: 107323746
60SLC26A4NM_ 000441.1(SLC26A4): c.1225C> T (p.Arg409Cys)SNVLikely pathogenicrs147952620GRCh37Chr 7, 107330644: 107330644
61SLC26A4NM_ 000441.1(SLC26A4): c.1342-1G> TSNVLikely pathogenicrs1057517298GRCh38Chr 7, 107694620: 107694620
62SLC26A4NM_ 000441.1(SLC26A4): c.2228T> A (p.Leu743Ter)SNVPathogenicrs1057517303GRCh38Chr 7, 107710192: 107710192
63SLC26A4NM_ 000441.1(SLC26A4): c.1149delG (p.Glu384Asnfs)deletionPathogenicrs1060499807GRCh37Chr 7, 107329645: 107329645
64SLC26A4NM_ 000441.1(SLC26A4): c.2048T> C (p.Phe683Ser)SNVPathogenicrs1060499808GRCh37Chr 7, 107344789: 107344789
65SLC26A4NM_ 000441.1(SLC26A4): c.-3-2A> GSNVPathogenicrs397516411GRCh37Chr 7, 107302082: 107302082
66SLC26A4NM_ 000441.1(SLC26A4): c.1149+3A> GSNVPathogenicrs111033314GRCh37Chr 7, 107329648: 107329648
67SLC26A4NM_ 000441.1(SLC26A4): c.1198delT (p.Cys400Valfs)deletionPathogenic/ Likely pathogenicrs397516413GRCh37Chr 7, 107330617: 107330617
68SLC26A4NM_ 000441.1(SLC26A4): c.1226G> A (p.Arg409His)SNVPathogenicrs111033305GRCh37Chr 7, 107330645: 107330645
69SLC26A4NM_ 000441.1(SLC26A4): c.1226G> C (p.Arg409Pro)SNVLikely pathogenicrs111033305GRCh37Chr 7, 107330645: 107330645
70SLC26A4NM_ 000441.1(SLC26A4): c.1229C> T (p.Thr410Met)SNVPathogenicrs111033220GRCh37Chr 7, 107330648: 107330648
71SLC26A4NM_ 000441.1(SLC26A4): c.1264-1G> CSNVPathogenic/ Likely pathogenicrs111033311GRCh37Chr 7, 107334847: 107334847
72SLC26A4NM_ 000441.1(SLC26A4): c.1284_ 1286delTGC (p.Ala429del)deletionPathogenic/ Likely pathogenicrs111033306GRCh37Chr 7, 107334868: 107334870
73SLC26A4NM_ 000441.1(SLC26A4): c.1336C> T (p.Gln446Ter)SNVPathogenic/ Likely pathogenicrs397516416GRCh37Chr 7, 107334920: 107334920
74SLC26A4NM_ 000441.1(SLC26A4): c.1341+1delG (p.Lys447Asnfs)deletionPathogenicrs397516417GRCh37Chr 7, 107334926: 107334926
75SLC26A4NM_ 000441.1(SLC26A4): c.1342-2_ 1343dupAGTCduplicationPathogenicrs111033407GRCh37Chr 7, 107335064: 107335067
76SLC26A4NM_ 000441.1(SLC26A4): c.1437+2T> GSNVPathogenic/ Likely pathogenicrs397516418GRCh37Chr 7, 107335163: 107335163
77SLC26A4NM_ 000441.1(SLC26A4): c.1489G> A (p.Gly497Ser)SNVPathogenic/ Likely pathogenicrs111033308GRCh37Chr 7, 107336429: 107336429
78SLC26A4NM_ 000441.1(SLC26A4): c.1541A> G (p.Gln514Arg)SNVPathogenic/ Likely pathogenicrs111033316GRCh37Chr 7, 107336481: 107336481
79SLC26A4NM_ 000441.1(SLC26A4): c.1548_ 1549insC (p.Ser517Leufs)insertionLikely pathogenicrs111033317GRCh37Chr 7, 107338490: 107338491
80SLC26A4NM_ 000441.1(SLC26A4): c.1614+1G> ASNVPathogenicrs111033312GRCh37Chr 7, 107338557: 107338557
81SLC26A4NM_ 000441.1(SLC26A4): c.164+2T> CSNVPathogenicrs397516420GRCh37Chr 7, 107302252: 107302252
82SLC26A4NM_ 000441.1(SLC26A4): c.1694G> A (p.Cys565Tyr)SNVLikely pathogenicrs111033257GRCh37Chr 7, 107340607: 107340607
83SLC26A4NM_ 000441.1(SLC26A4): c.170C> G (p.Ser57Ter)SNVLikely pathogenicrs111033200GRCh37Chr 7, 107303746: 107303746
84SLC26A4NM_ 000441.1(SLC26A4): c.1963A> G (p.Ile655Val)SNVLikely pathogenicrs397516424GRCh37Chr 7, 107342431: 107342431
85SLC26A4NM_ 000441.1(SLC26A4): c.2015G> A (p.Gly672Glu)SNVPathogenicrs111033309GRCh37Chr 7, 107342483: 107342483
86SLC26A4NM_ 000441.1(SLC26A4): c.2027T> A (p.Leu676Gln)SNVPathogenic/ Likely pathogenicrs111033318GRCh37Chr 7, 107342495: 107342495
87SLC26A4NM_ 000441.1(SLC26A4): c.2145G> T (p.Lys715Asn)SNVLikely pathogenicrs397516427GRCh37Chr 7, 107350554: 107350554
88SLC26A4NM_ 000441.1(SLC26A4): c.2188C> T (p.Gln730Ter)SNVPathogenicrs397516428GRCh37Chr 7, 107350597: 107350597
89SLC26A4NM_ 000441.1(SLC26A4): c.294_ 298delCACGC (p.Thr99Alafs)deletionPathogenic/ Likely pathogenicrs111033241GRCh37Chr 7, 107303870: 107303874
90SLC26A4NM_ 000441.1(SLC26A4): c.2T> C (p.Met1Thr)SNVPathogenicrs111033302GRCh37Chr 7, 107302088: 107302088
91SLC26A4NM_ 000441.1(SLC26A4): c.397_ 398delTCinsA (p.Ser133Lysfs)indelLikely pathogenicrs111033400GRCh37Chr 7, 107312675: 107312676
92SLC26A4NM_ 000441.1(SLC26A4): c.589G> A (p.Gly197Arg)SNVLikely pathogenicrs111033380GRCh37Chr 7, 107314782: 107314782
93SLC26A4NM_ 000441.1(SLC26A4): c.68C> A (p.Ser23Ter)SNVPathogenic/ Likely pathogenicrs397516430GRCh37Chr 7, 107302154: 107302154
94SLC26A4NM_ 000441.1(SLC26A4): c.706C> G (p.Leu236Val)SNVLikely pathogenicrs111033242GRCh37Chr 7, 107315495: 107315495
95SLC26A4NM_ 000441.1(SLC26A4): c.716T> A (p.Val239Asp)SNVPathogenic/ Likely pathogenicrs111033256GRCh37Chr 7, 107315505: 107315505
96SLC26A4NM_ 000441.1(SLC26A4): c.765+2T> CSNVPathogenicrs397516432GRCh37Chr 7, 107315556: 107315556
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, 1565GdeletionPathogenic
101SLC26A4SLC26A4, 1-BP DEL, 1421TdeletionPathogenic
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)SNVPathogenic/ Likely pathogenicrs121908363GRCh37Chr 7, 107350571: 107350571
109SLC26A4SLC26A4, 1-BP DEL, 279TdeletionPathogenic
110SLC26A4SLC26A4, IVS4DS, A-G, +7SNVPathogenic
111SLC26A4NM_ 000441.1(SLC26A4): c.1334T> G (p.Leu445Trp)SNVPathogenicrs111033307GRCh37Chr 7, 107334918: 107334918
112SLC26A4SLC26A4, 1-BP DEL, 1197TdeletionPathogenic
113SLC26A4SLC26A4, 1-BP INS, 2182GinsertionPathogenic
114SLC26A4SLC26A4, IVS8, C-G, 1002-4SNVPathogenic
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)SNVPathogenic/ Likely pathogenicrs111033254GRCh37Chr 7, 107338530: 107338530
118SLC26A4NM_ 000441.1(SLC26A4): c.85G> C (p.Glu29Gln)SNVPathogenic/ Likely pathogenicrs111033205GRCh37Chr 7, 107302171: 107302171
119SLC26A4NM_ 000441.1(SLC26A4): c.919-2A> GSNVPathogenicrs111033313GRCh37Chr 7, 107323898: 107323898
120FOXI1NM_ 012188.4(FOXI1): c.800G> A (p.Arg267Gln)SNVPathogenicrs121909341GRCh37Chr 5, 169535278: 169535278
121SLC26A4NM_ 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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Pathways related to Pendred Syndrome according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.9TG, TPO
2
Show member pathways
8.8DUOX2, PAX8, SLC26A4, TG, TPO

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
1integral component of plasma membraneGO:00058878.8KCNJ10, PTPRJ, SLC26A2, SLC26A3, SLC26A4, SLC26A5
2plasma membraneGO:00058866.8BAMBI, DUOX2, GJB2, KCNJ10, PTPRJ, SLC26A2

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

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1iodide transportGO:001570510.7SLC26A4, TG
2response to ischemiaGO:000293110.5GJB2, SLC26A5
3hydrogen peroxide catabolic processGO:004274410.5DUOX2, TPO
4thyroid hormone metabolic processGO:004240310.4DUOX2, TG
5thyroid hormone generationGO:000659010.4DUOX2, TPO
6anion transmembrane transportGO:009865610.3SLC26A3, SLC26A4, SLC26A5
7hormone biosynthetic processGO:004244610.2DUOX2, TG, TPO
8thyroid gland developmentGO:003087810.0DUOX2, PAX8, TG
9bicarbonate transportGO:00157019.9SLC26A2, SLC26A3, SLC26A4, SLC26A5
10chloride transmembrane transportGO:19024769.9SLC26A2, SLC26A3, SLC26A4, SLC26A5
11oxalate transportGO:00195329.9SLC26A2, SLC26A3, SLC26A4, SLC26A5
12regulation of intracellular pHGO:00514539.9SLC26A2, SLC26A3, SLC26A4, SLC26A5
13sulfate transmembrane transportGO:19023589.9SLC26A2, SLC26A3, SLC26A4, SLC26A5
14sulfate transportGO:00082729.9SLC26A2, SLC26A3, SLC26A4, SLC26A5
15sensory perception of soundGO:00076059.8GJB2, PAX3, SLC26A4, SLC26A5
16regulation of membrane potentialGO:00423919.6KCNJ10, SLC26A2, SLC26A3, SLC26A4, SLC26A5
17transmembrane transportGO:00550858.9GJB2, SLC26A2, SLC26A3, SLC26A4, SLC26A5
18positive regulation of transcription, DNA-templatedGO:00458938.6BAMBI, FOXI1, MITF, PAX3, PAX8

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1chloride transmembrane transporter activityGO:001510810.4SLC26A3, SLC26A4
2peroxidase activityGO:000460110.1DUOX2, TPO
3anion:anion antiporter activityGO:00153019.8SLC26A2, SLC26A3, SLC26A4, SLC26A5
4bicarbonate transmembrane transporter activityGO:00151069.8SLC26A2, SLC26A3, SLC26A4, SLC26A5
5chloride channel activityGO:00052549.7SLC26A2, SLC26A3, SLC26A4, SLC26A5
6oxalate transmembrane transporter activityGO:00195319.7SLC26A2, SLC26A3, SLC26A4, SLC26A5
7secondary active sulfate transmembrane transporter activityGO:00082719.5SLC26A2, SLC26A3, SLC26A4, SLC26A5
8sulfate transmembrane transporter activityGO:00151169.2SLC26A2, SLC26A3, SLC26A4, SLC26A5

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