MCID: PND002
MIFTS: 63

Pendred Syndrome malady

Genetic diseases, Rare diseases, Ear diseases, Endocrine diseases, Fetal diseases categories

Aliases & Classifications for Pendred Syndrome

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Sources:
49OMIM, 11diseasecard, 68Wikipedia, 45NIH Rare Diseases, 23Genetics Home Reference, 47Novoseek, 51Orphanet, 67UniProtKB/Swiss-Prot, 24GTR, 65UMLS, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH
See all sources

Aliases & Descriptions for Pendred Syndrome:

Name: Pendred Syndrome 49 11 68 45 23 47 51 67
Goiter-Deafness Syndrome 68 45 23 67
Deafness with Goiter 68 45 23 67
Autosomal Recessive Sensorineural Hearing Impairment and Goiter 68 45 23
Pendred's Syndrome 23 24 65
 
Pds 45 67
Thyroid Dyshormonogenesis 2b 67
Goiter - Deafness 51
Tdh2b 67


Classifications:



Characteristics (Orphanet epidemiological data):

51
pendred syndrome:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy


External Ids:

OMIM49 274600
Orphanet51 705
ICD10 via Orphanet28 E07.1
MESH via Orphanet37 C536648
UMLS via Orphanet66 C0271829
MedGen34 C0271829
MeSH36 D006042

Summaries for Pendred Syndrome

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NIH Rare Diseases:45 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 autoimmune thyroiditis and intermediate uveitis, and has symptoms including sensorineural hearing impairment, hypothyroidism and goiter. An important gene associated with Pendred Syndrome is SLC26A4 (Solute Carrier Family 26 (Anion Exchanger), Member 4), and among its related pathways are Thyroxine (Thyroid Hormone) Production and Insulin secretion. Affiliated tissues include thyroid and lung, and related mouse phenotypes are limbs/digits/tail and hearing/vestibular/ear.

Genetics Home Reference:23 Pendred syndrome is a disorder typically associated with hearing loss and a thyroid condition called 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 gland to malfunction.

OMIM:49 Pendred syndrome, the most common syndromal form of deafness, is an autosomal recessive disorder associated with... (274600) more...

UniProtKB/Swiss-Prot:67 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:68 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 1113)
idRelated DiseaseScoreTop Affiliating Genes
1autoimmune thyroiditis30.7TG, TPO
2intermediate uveitis29.9FOXI1, GJB2, SLC26A4
3gonadal disease29.7PAX8, SLC26A4, TG, TPO
4thyroid gland disease29.6PAX8, SLC26A4, TG, TPO
5parkinson disease, late-onset10.8
6central nervous system disease10.8
7movement disease10.8
8prion disease10.8
9basal ganglia disease10.8
10thyroiditis10.8
11nervous system disease10.7
12encephalopathy10.6
13parkinson disease 110.6
14goiter10.6
15parkinson disease 410.5
16impaired renal function disease10.5
17parkinson disease 510.5
18chronic kidney failure10.5
19neurologic diseases10.5
20physical disorder10.5
21urinary system disease10.5
22parkinson disease 1210.4
23glucose metabolism disease10.4
24sleep disorder10.4
25end stage renal failure10.4
26primary hyperoxaluria10.4
27kidney disease10.4
28parkinson disease 1010.4
29parkinson disease 810.4
30deep brain stimulation for parkinson's disease10.4
31diabetes mellitus, insulin-dependent10.4
32mouth disease10.4
33diabetes mellitus, noninsulin-dependent10.4
34sensorineural hearing loss10.4
35hypothyroidism10.4
36foxi1-related pendred syndrome10.4
37kcnj10-related pendred syndrome10.4
38slc26a4-related pendred syndrome10.4
39autoimmune disease 110.4
40dementia10.4
41nutritional deficiency disease10.4
42secondary parkinson disease10.4
43tremor10.4
44parkinson disease 1810.3
45adjustment disorder10.3
46anxiety disorder10.3
47mody, type ii10.3
48drug psychosis10.3
49spastic diplegia10.3
50pancreas disease10.3

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



Diseases related to pendred syndrome

Symptoms for Pendred Syndrome

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Symptoms by clinical synopsis from OMIM:

274600

Clinical features from OMIM:

274600

Symptoms:

 51 (show all 14)
  • structural anomalies of inner ear/cochlea/vestible/semicircular canals
  • sensorineural deafness/hearing loss
  • autosomal recessive inheritance
  • goiter
  • hypothyroidy
  • dizziness
  • tracheal atresia/stenosis
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • renal disease/nephropathy
  • hyperparathyroidy
  • ataxia/incoordination/trouble of the equilibrium
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • thyroid neoplasm/tumor/carcinoma/cancer

HPO human phenotypes related to Pendred Syndrome:

(show all 21)
id Description Frequency HPO Source Accession
1 sensorineural hearing impairment hallmark (90%) HP:0000407
2 hypothyroidism typical (50%) HP:0000821
3 goiter typical (50%) HP:0000853
4 nephropathy occasional (7.5%) HP:0000112
5 hyperparathyroidism occasional (7.5%) HP:0000843
6 respiratory insufficiency occasional (7.5%) HP:0002093
7 neurological speech impairment occasional (7.5%) HP:0002167
8 incoordination occasional (7.5%) HP:0002311
9 vertigo occasional (7.5%) HP:0002321
10 tracheal stenosis occasional (7.5%) HP:0002777
11 neoplasm of the thyroid gland occasional (7.5%) HP:0100031
12 cognitive impairment occasional (7.5%) HP:0100543
13 autosomal recessive inheritance HP:0000007
14 goiter HP:0000853
15 intellectual disability HP:0001249
16 vestibular dysfunction HP:0001751
17 abnormality of metabolism/homeostasis HP:0001939
18 thyroid carcinoma HP:0002890
19 compensated hypothyroidism HP:0008223
20 congenital sensorineural hearing impairment HP:0008527
21 cochlear malformation HP:0008554

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

Genetic Tests for Pendred Syndrome

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Genetic tests related to Pendred Syndrome:

id Genetic test Affiliating Genes
1 Pendred's Syndrome24

Anatomical Context for Pendred Syndrome

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MalaCards organs/tissues related to Pendred Syndrome:

33
Thyroid, Lung

Animal Models for Pendred Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Pendred Syndrome:

38 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.6BAMBI, GJB2, MITF, PAX3, SLC26A2, TPO
2MP:00053777.9DUOX2, FOXI1, GJB2, KCNJ10, MITF, PAX3
3MP:00053827.7BAMBI, FOXI1, GJB2, MITF, PAX3, PAX8
4MP:00053677.6AQP2, FOXI1, PAX3, PAX8, SLC12A3, SLC26A4
5MP:00036317.6DUOX2, FOXI1, GJB2, KCNJ10, MITF, PAX3
6MP:00053797.2DUOX2, MITF, PAX3, PAX8, SLC26A3, SLC26A4
7MP:00053906.8BAMBI, DUOX2, FOXI1, GJB2, MITF, PAX3
8MP:00053896.6AQP2, DUOX2, FOXI1, GJB2, MITF, PAX8
9MP:00107686.5AQP2, FOXI1, GJB2, KCNJ10, MITF, PAX3
10MP:00053764.7AQP2, DUOX2, FOXI1, GJB2, KCNJ10, MITF
11MP:00053784.6AQP2, BAMBI, DUOX2, GJB2, KCNJ10, MITF

Publications for Pendred Syndrome

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Articles related to Pendred Syndrome:

(show top 50)    (show all 119)
idTitleAuthorsYear
1
Patients with Pendred syndrome:is cochlear implantation beneficial? (26331303)
2015
2
Goiter and hearing impairment: A case of a male patient with Pendred syndrome. (25295090)
2014
3
Identification of a founder mutation for Pendred syndrome in families from northwest Iran. (25239229)
2014
4
Pathogenic substitution of IVS15 + 5G > A in SLC26A4 in patients of Okinawa Islands with enlarged vestibular aqueduct syndrome or Pendred syndrome. (23705809)
2013
5
A Novel mutation in the SLC26A4 gene in a Chinese family with Pendred syndrome. (23838540)
2013
6
Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in Pendred syndrome/enlarged vestibular aqueducts. (23965030)
2013
7
A novel insertion-induced frameshift mutation of the SLC26A4 gene in a Korean family with Pendred syndrome. (22884721)
2012
8
Cochlear implantation in Pendred syndrome. (21917203)
2011
9
An unfortunate case of Pendred syndrome. (21745434)
2011
10
Life-threatening metabolic alkalosis in Pendred syndrome. (21551164)
2011
11
Genetics and phenomics of Pendred syndrome. (20298745)
2010
12
A patient with Pendred syndrome whose goiter progressed with normal serum thyrotropin and iodine organification. (20583162)
2010
13
Pendred syndrome in two Galician families: insights into clinical phenotypes through cellular, genetic, and molecular studies. (17940114)
2008
14
Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA. (19017801)
2008
15
Thyroidectomy in a patient with multinodular dyshormonogenetic goitre--a case of Pendred syndrome confirmed by mutations in the PDS/SLC26A4 gene. (19189692)
2008
16
Profound hypokalemia and hypochloremic metabolic alkalosis during thiazide therapy in a child with Pendred syndrome. (18538122)
2008
17
Free radical stress-mediated loss of Kcnj10 protein expression in stria vascularis contributes to deafness in Pendred syndrome mouse model. (17959752)
2008
18
Phenotypes of SLC26A4 gene mutations: Pendred syndrome and hypoacusis with enlarged vestibular aqueduct. (18283249)
2008
19
Two common and three novel PDS mutations in Thai patients with Pendred syndrome. (18250610)
2007
20
Long-term follow-up of hearing loss in children and young adults with enlarged vestibular aqueducts: relationship to radiologic findings and Pendred syndrome diagnosis. (17075407)
2006
21
Sensori-neural deafness and hypothyroidism: autoimmunity causing 'pseudo-Pendred syndrome'. (16582570)
2006
22
CT of the ear in Pendred syndrome. (15758191)
2005
23
Pendred syndrome: study of three families. (16482981)
2005
24
Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations. (14679580)
2004
25
A pedigree with Pendred syndrome: case report and discussion on hereditary hearing loss. (15513511)
2004
26
Enlarged endolymphatic duct and sac syndrome: relationship between MR findings and genotype of mutation in Pendred syndrome gene. (14972391)
2004
27
Loss of KCNJ10 protein expression abolishes endocochlear potential and causes deafness in Pendred syndrome mouse model. (15320950)
2004
28
Solitary thyroid nodule as presenting symptom of Pendred syndrome caused by a novel splice-site mutation in intron 8 of the SLC26A4 gene. (12920581)
2003
29
Mutations of the PDS gene, encoding pendrin, are associated with protein mislocalization and loss of iodide efflux: implications for thyroid dysfunction in Pendred syndrome. (11932316)
2002
30
Differential diagnosis between Pendred and pseudo-Pendred syndromes: clinical, radiologic, and molecular studies. (11919333)
2002
31
Phenotypes associated with replacement of His by Arg in the Pendred syndrome gene. (11720893)
2001
32
Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations. (11317356)
2001
33
Expression of pendrin and the Pendred syndrome (PDS) gene in human thyroid tissues. (10843192)
2000
34
Pendrin, the protein encoded by the Pendred syndrome gene (PDS), is an apical porter of iodide in the thyroid and is regulated by thyroglobulin in FRTL-5 cells. (10650967)
2000
35
Pendred syndrome: phenotypic variability in two families carrying the same PDS missense mutation. (10602116)
2000
36
Mutations of the Pendred syndrome gene (PDS) in patients with large vestibular aqueduct. (11603758)
2000
37
Prevalence, age of onset, and natural history of thyroid disease in Pendred syndrome. (10465108)
1999
38
The Pendred syndrome gene encodes a chloride-iodide transport protein. (10192399)
1999
39
Histopathological findings suggest the diagnosis in an atypical case of Pendred syndrome. (10607000)
1999
40
Identification of two different mutations in the PDS gene in an inbred family with Pendred syndrome. (10874637)
1999
41
Progressive sensorineural hearing loss and a widened vestibular aqueduct in Pendred syndrome. (9604973)
1998
42
Townes-Brocks and Pendred syndrome in the same patient. (9600745)
1998
43
Pendred syndrome--100 years of underascertainment? (9302427)
1997
44
Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). (9398842)
1997
45
The gene for Pendred syndrome is located between D7S501 and D7S692 in a 1.7-cM region on chromosome 7q. (9070918)
1997
46
Pendred syndrome: evidence for genetic homogeneity and further refinement of linkage. (9039988)
1997
47
Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4. (8630497)
1996
48
Pendred syndrome maps to chromosome 7q21-34 and is caused by an intrinsic defect in thyroid iodine organification. (8630498)
1996
49
A patient with dup(10p)del(8q) and Pendred syndrome. (3717206)
1986
50
Probable Pendred syndrome on Goodenough Island. (6937026)
1980

Variations for Pendred Syndrome

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

67 (show all 43)
id Symbol AA change Variation ID SNP ID
1SLC26A4p.Gly209ValVAR_007440
2SLC26A4p.Leu236ProVAR_007441
3SLC26A4p.Glu384GlyVAR_007444
4SLC26A4p.Thr416ProVAR_007445rs28939086
5SLC26A4p.Phe667CysVAR_007447
6SLC26A4p.Thr721MetVAR_007448
7SLC26A4p.His723ArgVAR_007449rs121908362
8SLC26A4p.Thr193IleVAR_011623
9SLC26A4p.Leu445TrpVAR_011624
10SLC26A4p.Ser28ArgVAR_021639
11SLC26A4p.Glu29GlnVAR_021640
12SLC26A4p.Tyr78CysVAR_021641
13SLC26A4p.Gly102ArgVAR_021643
14SLC26A4p.Tyr105CysVAR_021645
15SLC26A4p.Ala106AspVAR_021646
16SLC26A4p.Leu117PheVAR_021647rs145254330
17SLC26A4p.Ser133ThrVAR_021649
18SLC26A4p.Ser137ProVAR_021650
19SLC26A4p.Val138PheVAR_021651
20SLC26A4p.Gly139AlaVAR_021652
21SLC26A4p.Val239AspVAR_021653
22SLC26A4p.Asp271HisVAR_021655
23SLC26A4p.Phe335LeuVAR_021656rs111033212
24SLC26A4p.Ser391AsnVAR_021657
25SLC26A4p.Arg409HisVAR_021659
26SLC26A4p.Thr410MetVAR_021661
27SLC26A4p.Ala411ProVAR_021662
28SLC26A4p.Gln446ArgVAR_021665
29SLC26A4p.Val480AspVAR_021668
30SLC26A4p.Tyr530HisVAR_021670
31SLC26A4p.Ser552IleVAR_021671
32SLC26A4p.Tyr556CysVAR_021672
33SLC26A4p.Tyr556HisVAR_021673
34SLC26A4p.Cys565TyrVAR_021674
35SLC26A4p.Val653AlaVAR_021676
36SLC26A4p.Gly672GluVAR_021677
37SLC26A4p.Ser694ProVAR_021680
38SLC26A4p.Asp724AsnVAR_021681
39SLC26A4p.Thr508AsnVAR_027240
40SLC26A4p.Gln514ArgVAR_027241
41SLC26A4p.Tyr530SerVAR_027242
42SLC26A4p.Val402MetVAR_058580
43SLC26A4p.Met775ThrVAR_058581

Clinvar genetic disease variations for Pendred Syndrome:

5 (show all 89)
id Gene Variation Type Significance SNP ID Assembly Location
1NM_000441.1(SLC26A4): c.-4+5G> Asingle nucleotide variantLikely pathogenicrs727503425GRCh37Chr 7, 107301305: 107301305
2SLC26A4NM_000441.1(SLC26A4): c.1554G> A (p.Trp518Ter)single nucleotide variantPathogenicrs727503428GRCh37Chr 7, 107338496: 107338496
3SLC26A4NM_000441.1(SLC26A4): c.2089+1G> Asingle nucleotide variantPathogenicrs727503430GRCh37Chr 7, 107344831: 107344831
4SLC26A4NM_000441.1(SLC26A4): c.2215C> T (p.Gln739Ter)single nucleotide variantPathogenicrs727503431GRCh37Chr 7, 107350624: 107350624
5SLC26A4NM_000441.1(SLC26A4): c.1614+1G> Csingle nucleotide variantPathogenicrs111033312GRCh37Chr 7, 107338557: 107338557
6SLC26A4NM_000441.1(SLC26A4): c.1707+6T> Csingle nucleotide variantLikely pathogenicrs727505230GRCh37Chr 7, 107340626: 107340626
7SLC26A4NM_000441.1(SLC26A4): c.279delT (p.Ser93Argfs)deletionLikely pathogenicrs786204421GRCh37Chr 7, 107303855: 107303855
8NM_000441.1(SLC26A4): c.3G> C (p.Met1Ile)single nucleotide variantLikely pathogenicrs786204426GRCh37Chr 7, 107302089: 107302089
9SLC26A4NM_000441.1(SLC26A4): c.1547dupC (p.Ser517Phefs)duplicationLikely pathogenicrs786204450GRCh38Chr 7, 107698044: 107698044
10SLC26A4NM_000441.1(SLC26A4): c.165-2A> Gsingle nucleotide variantLikely pathogenicrs786204458GRCh37Chr 7, 107303739: 107303739
11SLC26A4NM_000441.1(SLC26A4): c.1079C> T (p.Ala360Val)single nucleotide variantLikely pathogenicrs786204474GRCh37Chr 7, 107329575: 107329575
12SLC26A4NM_000441.1(SLC26A4): c.1919G> A (p.Trp640Ter)single nucleotide variantLikely pathogenicrs786204502GRCh37Chr 7, 107342387: 107342387
13SLC26A4NM_000441.1(SLC26A4): c.164+1delGdeletionLikely pathogenicrs786204504GRCh37Chr 7, 107302251: 107302251
14SLC26A4NM_000441.1(SLC26A4): c.269C> T (p.Ser90Leu)single nucleotide variantLikely 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)single nucleotide variantLikely pathogenicrs542620119GRCh37Chr 7, 107314747: 107314747
17SLC26A4NM_000441.1(SLC26A4): c.1975G> C (p.Val659Leu)single nucleotide variantLikely pathogenicrs200455203GRCh37Chr 7, 107342443: 107342443
18SLC26A4NM_000441.1(SLC26A4): c.235C> T (p.Arg79Ter)single nucleotide variantLikely 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
21NM_000441.1(SLC26A4): c.84C> A (p.Ser28Arg)single nucleotide variantLikely pathogenicrs539699299GRCh38Chr 7, 107661725: 107661725
22SLC26A4NM_000441.1(SLC26A4): c.1920G> A (p.Trp640Ter)single nucleotide variantLikely pathogenicrs368119540GRCh37Chr 7, 107342388: 107342388
23SLC26A4NM_000441.1(SLC26A4): c.1001G> T (p.Gly334Val)single nucleotide variantLikely 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)single nucleotide variantLikely pathogenicrs786204739GRCh37Chr 7, 107338528: 107338528
26SLC26A4NM_000441.1(SLC26A4): c.2086C> T (p.Gln696Ter)single nucleotide variantLikely pathogenicrs752807925GRCh37Chr 7, 107344827: 107344827
27SLC26A4NM_000441.1(SLC26A4): c.304+2T> Csingle nucleotide variantLikely pathogenicrs746238617GRCh37Chr 7, 107303882: 107303882
28NM_000441.1(SLC26A4): c.-3-2A> Gsingle nucleotide variantPathogenicrs397516411GRCh37Chr 7, 107302082: 107302082
29SLC26A4NM_000441.1(SLC26A4): c.1149+3A> Gsingle nucleotide variantPathogenicrs111033314GRCh37Chr 7, 107329648: 107329648
30SLC26A4NM_000441.1(SLC26A4): c.1198delT (p.Cys400Valfs)deletionLikely pathogenic, Pathogenicrs397516413GRCh37Chr 7, 107330617: 107330617
31SLC26A4NM_000441.1(SLC26A4): c.1204G> A (p.Val402Met)single nucleotide variantLikely pathogenicrs397516414GRCh37Chr 7, 107330623: 107330623
32SLC26A4NM_000441.1(SLC26A4): c.1226G> A (p.Arg409His)single nucleotide variantPathogenicrs111033305GRCh37Chr 7, 107330645: 107330645
33SLC26A4NM_000441.1(SLC26A4): c.1226G> C (p.Arg409Pro)single nucleotide variantLikely pathogenicrs111033305GRCh37Chr 7, 107330645: 107330645
34SLC26A4NM_000441.1(SLC26A4): c.1229C> T (p.Thr410Met)single nucleotide variantPathogenicrs111033220GRCh37Chr 7, 107330648: 107330648
35SLC26A4NM_000441.1(SLC26A4): c.1264-1G> Csingle nucleotide variantLikely pathogenic, Pathogenicrs111033311GRCh37Chr 7, 107334847: 107334847
36SLC26A4NM_000441.1(SLC26A4): c.1284_1286delTGC (p.Ala429del)deletionLikely pathogenicrs111033306GRCh37Chr 7, 107334868: 107334870
37SLC26A4NM_000441.1(SLC26A4): c.1336C> T (p.Gln446Ter)single nucleotide variantLikely pathogenic, Pathogenicrs397516416GRCh37Chr 7, 107334920: 107334920
38SLC26A4NM_000441.1(SLC26A4): c.1341+1delGdeletionPathogenicrs397516417GRCh37Chr 7, 107334926: 107334926
39SLC26A4NM_000441.1(SLC26A4): c.1342-2_1343dupAGTCduplicationPathogenicrs111033407GRCh37Chr 7, 107335064: 107335067
40SLC26A4NM_000441.1(SLC26A4): c.1437+2T> Gsingle nucleotide variantPathogenicrs397516418GRCh37Chr 7, 107335163: 107335163
41SLC26A4NM_000441.1(SLC26A4): c.1489G> A (p.Gly497Ser)single nucleotide variantLikely pathogenic, Pathogenicrs111033308GRCh37Chr 7, 107336429: 107336429
42SLC26A4NM_000441.1(SLC26A4): c.1541A> G (p.Gln514Arg)single nucleotide variantLikely pathogenicrs111033316GRCh37Chr 7, 107336481: 107336481
43SLC26A4NM_000441.1(SLC26A4): c.1548_1549insC (p.Ser517Leufs)insertionLikely pathogenicrs111033317GRCh37Chr 7, 107338490: 107338491
44SLC26A4NM_000441.1(SLC26A4): c.1614+1G> Asingle nucleotide variantPathogenicrs111033312GRCh37Chr 7, 107338557: 107338557
45SLC26A4NM_000441.1(SLC26A4): c.164+2T> Csingle nucleotide variantPathogenicrs397516420GRCh37Chr 7, 107302252: 107302252
46SLC26A4NM_000441.1(SLC26A4): c.1694G> A (p.Cys565Tyr)single nucleotide variantLikely pathogenicrs111033257GRCh37Chr 7, 107340607: 107340607
47SLC26A4NM_000441.1(SLC26A4): c.170C> G (p.Ser57Ter)single nucleotide variantLikely pathogenicrs111033200GRCh37Chr 7, 107303746: 107303746
48SLC26A4NM_000441.1(SLC26A4): c.1963A> G (p.Ile655Val)single nucleotide variantLikely pathogenicrs397516424GRCh37Chr 7, 107342431: 107342431
49SLC26A4NM_000441.1(SLC26A4): c.2015G> A (p.Gly672Glu)single nucleotide variantPathogenicrs111033309GRCh37Chr 7, 107342483: 107342483
50SLC26A4NM_000441.1(SLC26A4): c.2027T> A (p.Leu676Gln)single nucleotide variantLikely pathogenic, Pathogenicrs111033318GRCh37Chr 7, 107342495: 107342495
51SLC26A4NM_000441.1(SLC26A4): c.2145G> T (p.Lys715Asn)single nucleotide variantLikely pathogenicrs397516427GRCh37Chr 7, 107350554: 107350554
52SLC26A4NM_000441.1(SLC26A4): c.2188C> T (p.Gln730Ter)single nucleotide variantPathogenicrs397516428GRCh37Chr 7, 107350597: 107350597
53SLC26A4NM_000441.1(SLC26A4): c.294_298delCACGC (p.Thr99Alafs)deletionLikely pathogenicrs111033241GRCh37Chr 7, 107303870: 107303874
54NM_000441.1(SLC26A4): c.2T> C (p.Met1Thr)single nucleotide variantPathogenicrs111033302GRCh37Chr 7, 107302088: 107302088
55SLC26A4NM_000441.1(SLC26A4): c.397_398delTCinsA (p.Ser133Lysfs)indelLikely pathogenicrs111033400GRCh37Chr 7, 107312675: 107312676
56SLC26A4NM_000441.1(SLC26A4): c.589G> A (p.Gly197Arg)single nucleotide variantLikely pathogenicrs111033380GRCh37Chr 7, 107314782: 107314782
57NM_000441.1(SLC26A4): c.68C> A (p.Ser23Ter)single nucleotide variantLikely pathogenic, Pathogenicrs397516430GRCh37Chr 7, 107302154: 107302154
58SLC26A4NM_000441.1(SLC26A4): c.716T> A (p.Val239Asp)single nucleotide variantLikely pathogenic, Pathogenicrs111033256GRCh37Chr 7, 107315505: 107315505
59SLC26A4NM_000441.1(SLC26A4): c.765+2T> Csingle nucleotide variantPathogenicrs397516432GRCh37Chr 7, 107315556: 107315556
60SLC26A4NM_000441.1(SLC26A4): c.845G> A (p.Cys282Tyr)single nucleotide variantLikely pathogenicrs111033454GRCh37Chr 7, 107323726: 107323726
61NM_000441.1(SLC26A4): c.85G> T (p.Glu29Ter)single nucleotide variantLikely pathogenicrs111033205GRCh37Chr 7, 107302171: 107302171
62SLC26A4NM_000441.1(SLC26A4): c.918+1G> Tsingle nucleotide variantLikely pathogenicrs111033245GRCh37Chr 7, 107323800: 107323800
63SLC26A4NM_000441.1(SLC26A4): c.2000T> G (p.Phe667Cys)single nucleotide variantPathogenicrs121908360GRCh37Chr 7, 107342468: 107342468
64SLC26A4SLC26A4, 1-BP DEL, 1565GdeletionPathogenic
65SLC26A4SLC26A4, 1-BP DEL, 1421TdeletionPathogenic
66SLC26A4NM_000441.1(SLC26A4): c.1489G> A (p.Gly497Ser)single nucleotide variantLikely pathogenic, Pathogenicrs111033308GRCh37Chr 7, 107336429: 107336429
67SLC26A4NM_000441.1(SLC26A4): c.707T> C (p.Leu236Pro)single nucleotide variantPathogenicrs80338848GRCh37Chr 7, 107315496: 107315496
68SLC26A4NM_000441.1(SLC26A4): c.1246A> C (p.Thr416Pro)single nucleotide variantPathogenicrs28939086GRCh37Chr 7, 107330665: 107330665
69SLC26A4NM_000441.1(SLC26A4): c.1001+1G> Asingle nucleotide variantPathogenicrs80338849GRCh37Chr 7, 107323983: 107323983
70SLC26A4NM_000441.1(SLC26A4): c.1151A> G (p.Glu384Gly)single nucleotide variantPathogenicrs111033244GRCh37Chr 7, 107330570: 107330570
71SLC26A4NM_000441.1(SLC26A4): c.626G> T (p.Gly209Val)single nucleotide variantPathogenicrs111033303GRCh37Chr 7, 107315415: 107315415
72SLC26A4NM_000441.1(SLC26A4): c.2168A> G (p.His723Arg)single nucleotide variantPathogenicrs121908362GRCh37Chr 7, 107350577: 107350577
73SLC26A4NM_000441.1(SLC26A4): c.2162C> T (p.Thr721Met)single nucleotide variantLikely pathogenic, Pathogenicrs121908363GRCh37Chr 7, 107350571: 107350571
74SLC26A4SLC26A4, 1-BP DEL, 279TdeletionPathogenic
75SLC26A4SLC26A4, IVS4DS, A-G, +7single nucleotide variantPathogenic
76SLC26A4NM_000441.1(SLC26A4): c.1334T> G (p.Leu445Trp)single nucleotide variantPathogenicrs111033307GRCh37Chr 7, 107334918: 107334918
77SLC26A4NM_000441.1(SLC26A4): c.578C> T (p.Thr193Ile)single nucleotide variantPathogenicrs111033348GRCh37Chr 7, 107314771: 107314771
78SLC26A4SLC26A4, 1-BP DEL, 1197TdeletionPathogenic
79SLC26A4SLC26A4, 1-BP INS, 2182GinsertionPathogenic
80SLC26A4SLC26A4, IVS8, C-G, 1002-4single nucleotide variantPathogenic
81SLC26A4NM_000441.1(SLC26A4): c.397T> A (p.Ser133Thr)single nucleotide variantPathogenicrs121908365GRCh37Chr 7, 107312675: 107312675
82SLC26A4NM_000441.1(SLC26A4): c.412G> T (p.Val138Phe)single nucleotide variantPathogenicrs111033199GRCh37Chr 7, 107312690: 107312690
83SLC26A4NM_000441.1(SLC26A4): c.1588T> C (p.Tyr530His)single nucleotide variantLikely pathogenic, Pathogenicrs111033254GRCh37Chr 7, 107338530: 107338530
84NM_000441.1(SLC26A4): c.-103T> Csingle nucleotide variantLikely pathogenic, Pathogenicrs60284988GRCh37Chr 7, 107301201: 107301201
85NM_000441.1(SLC26A4): c.85G> C (p.Glu29Gln)single nucleotide variantLikely pathogenic, Pathogenicrs111033205GRCh37Chr 7, 107302171: 107302171
86SLC26A4NM_000441.1(SLC26A4): c.919-2A> Gsingle nucleotide variantPathogenicrs111033313GRCh37Chr 7, 107323898: 107323898
87SLC26A4NM_000441.1(SLC26A4): c.1003T> C (p.Phe335Leu)single nucleotide variantLikely pathogenic, Pathogenicrs111033212GRCh37Chr 7, 107329499: 107329499
88FOXI1NM_012188.4(FOXI1): c.800G> A (p.Arg267Gln)single nucleotide variantPathogenicrs121909341GRCh37Chr 5, 169535278: 169535278
89SLC26A4NM_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:00163239.6AQP2, KCNJ10, SLC26A5, SLC4A1
2apical plasma membraneGO:00163249.1AQP2, DUOX2, KCNJ10, SLC12A3, SLC26A3, SLC26A4
3integral component of plasma membraneGO:00058876.7AQP2, KCNJ10, PTPRJ, SLC12A3, SLC26A2, SLC26A3
4integral component of membraneGO:00160216.3BAMBI, DUOX2, GJB2, KCNJ10, MPZL2, SLC12A3
5plasma membraneGO:00058865.2AQP2, BAMBI, DUOX2, GJB2, KCNJ10, MPZL2

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

(show all 21)
idNameGO IDScoreTop Affiliating Genes
1iodide transportGO:001570510.8SLC26A4, TG
2potassium ion homeostasisGO:005507510.5KCNJ10, SLC12A3
3anion transportGO:000682010.4SLC26A3, SLC4A1
4membrane hyperpolarizationGO:006008110.4KCNJ10, SLC26A3
5thyroid hormone generationGO:000659010.1DUOX2, TPO
6thyroid hormone metabolic processGO:004240310.1DUOX2, TG
7sulfate transportGO:000827210.1SLC26A2, SLC26A3, SLC26A4, SLC26A5
8oxalate transportGO:001953210.1SLC26A2, SLC26A3, SLC26A4, SLC26A5
9sulfate transmembrane transportGO:190235810.1SLC26A2, SLC26A3, SLC26A4, SLC26A5
10hydrogen peroxide catabolic processGO:004274410.0DUOX2, TPO
11thyroid gland developmentGO:00308789.8DUOX2, PAX8, TG
12hormone biosynthetic processGO:00424469.8DUOX2, TG, TPO
13chloride transportGO:00068219.7SLC12A3, SLC26A3, SLC26A4, SLC4A1
14regulation of intracellular pHGO:00514539.7SLC26A2, SLC26A3, SLC26A4, SLC26A5, SLC4A1
15bicarbonate transportGO:00157019.6SLC26A2, SLC26A3, SLC26A4, SLC26A5, SLC4A1
16regulation of membrane potentialGO:00423919.3KCNJ10, SLC26A2, SLC26A3, SLC26A4, SLC26A5
17chloride transmembrane transportGO:19024769.1SLC12A3, SLC26A2, SLC26A3, SLC26A4, SLC26A5, SLC4A1
18sensory perception of soundGO:00076058.9GJB2, PAX3, SLC26A4, SLC26A5
19positive regulation of transcription, DNA-templatedGO:00458938.7BAMBI, FOXI1, MITF, PAX3, PAX8
20ion transportGO:00068118.6SLC12A3, SLC26A2, SLC26A3, SLC26A4, SLC4A1, TRPV6
21transmembrane transportGO:00550857.6AQP2, GJB2, SLC12A3, SLC26A2, SLC26A3, SLC26A4

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1chloride transmembrane transporter activityGO:001510810.2SLC26A3, SLC26A4, SLC4A1
2peroxidase activityGO:000460110.0DUOX2, TPO
3secondary active sulfate transmembrane transporter activityGO:00082719.9SLC26A2, SLC26A3, SLC26A4, SLC26A5
4sulfate transmembrane transporter activityGO:00151169.9SLC26A2, SLC26A3, SLC26A4, SLC26A5
5oxalate transmembrane transporter activityGO:00195319.9SLC26A2, SLC26A3, SLC26A4, SLC26A5
6bicarbonate transmembrane transporter activityGO:00151069.5SLC26A2, SLC26A3, SLC26A4, SLC26A5, SLC4A1
7anion:anion antiporter activityGO:00153019.5SLC26A2, SLC26A3, SLC26A4, SLC26A5, SLC4A1
8chloride channel activityGO:00052549.5SLC26A2, SLC26A3, SLC26A4, SLC26A5
9transporter activityGO:00052159.0AQP2, SLC12A3, SLC26A3, SLC4A1

Sources for Pendred Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet