MCID: PND002
MIFTS: 52

Pendred Syndrome malady

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

Aliases & Classifications for Pendred Syndrome

About this section
Sources:
49OMIM, 11diseasecard, 68Wikipedia, 45NIH Rare Diseases, 23Genetics Home Reference, 47Novoseek, 51Orphanet, 67UniProtKB/Swiss-Prot, 24GTR, 65UMLS, 66UMLS via Orphanet, 28ICD10 via Orphanet, 37MESH via Orphanet, 34MedGen, 36MeSH, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Pendred Syndrome:

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

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

HPO:

61
pendred syndrome:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 274600
Orphanet51 705
UMLS via Orphanet66 C0271829
ICD10 via Orphanet28 E07.1
MESH via Orphanet37 C536648
MedGen34 C0271829
MeSH36 D006042
UMLS65 C0271829

Summaries for Pendred Syndrome

About this section
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 thyroiditis and autoimmune thyroiditis, and has symptoms including sensorineural hearing impairment, goiter and hypothyroidism. 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, lung and breast, and related mouse phenotypes are renal/urinary system and skeleton.

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.

Genetics Home Reference:23 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:49 Pendred syndrome, the most common syndromal form of deafness, is an autosomal recessive disorder associated with... (274600) more...

Wikipedia:68 Pendred syndrome or Pendred disease is a genetic disorder leading to congenital bilateral (both sides)... more...

Related Diseases for Pendred Syndrome

About this section

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 67)
idRelated DiseaseScoreTop Affiliating Genes
1thyroiditis31.6TG, TPO
2autoimmune thyroiditis30.9TG, TPO
3goiter29.9DUOX2, FOXI1, SLC26A2, SLC26A4, TG
4foxi1-related pendred syndrome11.9
5kcnj10-related pendred syndrome11.9
6slc26a4-related pendred syndrome11.9
7pendred syndrome/dfnb411.6
8prolidase deficiency11.5
9parkinson disease, late-onset11.4
10ehlers-danlos syndrome progeroid type11.1
11neonatal meningitis10.7TG, TPO
12rhabdomyosarcoma, embryonal, 210.7TG, TPO
13metagonimiasis10.7GJB2, SLC26A4
14solar retinopathy10.7TG, TPO
15setariasis10.6TG, TPO
16lingual goiter10.6TG, TPO
17peroxisome biogenesis disorders, zellweger syndrome spectrum10.6FOXI1, KCNJ10, SLC26A4
18hypertelorism, preauricular sinus, punctal pits, and deafness10.6TG, TPO
19renal hypertension10.6TG, TPO
20parenchymatous neurosyphilis10.6SLC26A4, TG, TPO
21pulmonary tuberculosis10.6FOXI1, GJB2, SLC26A4
22pyeloureteritis cystica10.6FOXI1, GJB2, SLC26A4
23substernal goiter10.5FOXI1, TG, TPO
24hashimoto thyroiditis10.5SLC26A4, TG, TPO
25hypothryoidism, congenital, nongoitrous 410.5TG, TPO
26tinea corporis10.5SLC26A4, TG, TPO
27accommodative spasm10.5TG, TPO
28thyroid cancer, childhood10.4PAX8, TG
29megaloblastic anemia10.4TG, TPO
30endemic goiter10.4TG, TPO
31multiple system atrophy10.4
32left-right axis malformations10.4KCNJ10, SLC12A3
33iatrogenic or traumatic pituitary deficiency10.3PAX8, SLC26A4, TG
34hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia10.3PAX8, SLC26A4, TG
35corticobasal degeneration10.3
36familial abdominal aortic aneurysm10.2PAX8, TG, TPO
37cogan-reese syndrome10.2GJB2, PTPRJ
38chronic diarrhea due to guanylate cyclase 2c overactivity10.2SLC26A2, SLC26A3
39thyroid ectopia10.2DUOX2, TG, TPO
40frontotemporal dementia and/or amyotrophic lateral sclerosis 410.2PAX8, TG, TPO
41pancreas disease10.2
42endotheliitis10.1
43chorea, hereditary benign10.1PAX8, TG, TPO
44peritonitis10.1
45glaucoma, primary open angle, juvenile-onset, 210.1TG, TPO
46sensorineural hearing loss10.1
47hypothyroidism10.1
48mediastinal osteogenic sarcoma10.1PAX8, SLC26A4, TG, TPO
49adrenal rest tumor10.0PAX8, SLC26A4, TG, TPO
50cervicitis10.0

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



Diseases related to pendred syndrome

Symptoms for Pendred Syndrome

About this section

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

Drugs & Therapeutics for Pendred Syndrome

About this section

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

About this section

Anatomical Context for Pendred Syndrome

About this section

MalaCards organs/tissues related to Pendred Syndrome:

33
Thyroid, Lung, Breast, Bone, Pituitary, Testes, Endothelial

Animal Models for Pendred Syndrome or affiliated genes

About this section

MGI Mouse Phenotypes related to Pendred Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.2FOXI1, KCNJ10, PAX8, SLC12A3, SLC26A4, SLC4A1
2MP:00053908.0BAMBI, DUOX2, FOXI1, GJB2, PAX8, SLC26A2
3MP:00053777.8DUOX2, FOXI1, GJB2, KCNJ10, PAX8, SLC26A4
4MP:00053765.9DUOX2, FOXI1, GJB2, KCNJ10, PAX8, PTGDS
5MP:00053785.5BAMBI, DUOX2, GJB2, KCNJ10, PAX8, PTPRJ

Publications for Pendred Syndrome

About this section

Articles related to Pendred Syndrome:

(show top 50)    (show all 123)
idTitleAuthorsYear
1
Pendred Syndrome in a Newborn with Neck Swelling: A Case Report. (26936928)
2016
2
Patients with Pendred syndrome:is cochlear implantation beneficial? (26331303)
2015
3
Goiter and hearing impairment: A case of a male patient with Pendred syndrome. (25295090)
2014
4
Identification of a founder mutation for Pendred syndrome in families from northwest Iran. (25239229)
2014
5
Pathogenic substitution of IVS15 + 5G > A in SLC26A4 in patients of Okinawa Islands with enlarged vestibular aqueduct syndrome or Pendred syndrome. (23705809)
2013
6
A Novel mutation in the SLC26A4 gene in a Chinese family with Pendred syndrome. (23838540)
2013
7
Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in Pendred syndrome/enlarged vestibular aqueducts. (23965030)
2013
8
A novel insertion-induced frameshift mutation of the SLC26A4 gene in a Korean family with Pendred syndrome. (22884721)
2012
9
Cochlear implantation in Pendred syndrome. (21917203)
2011
10
An unfortunate case of Pendred syndrome. (21745434)
2011
11
Life-threatening metabolic alkalosis in Pendred syndrome. (21551164)
2011
12
Genetics and phenomics of Pendred syndrome. (20298745)
2010
13
A patient with Pendred syndrome whose goiter progressed with normal serum thyrotropin and iodine organification. (20583162)
2010
14
Pendred syndrome in two Galician families: insights into clinical phenotypes through cellular, genetic, and molecular studies. (17940114)
2008
15
Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA. (19017801)
2008
16
Thyroidectomy in a patient with multinodular dyshormonogenetic goitre--a case of Pendred syndrome confirmed by mutations in the PDS/SLC26A4 gene. (19189692)
2008
17
Profound hypokalemia and hypochloremic metabolic alkalosis during thiazide therapy in a child with Pendred syndrome. (18538122)
2008
18
Free radical stress-mediated loss of Kcnj10 protein expression in stria vascularis contributes to deafness in Pendred syndrome mouse model. (17959752)
2008
19
Phenotypes of SLC26A4 gene mutations: Pendred syndrome and hypoacusis with enlarged vestibular aqueduct. (18283249)
2008
20
Two common and three novel PDS mutations in Thai patients with Pendred syndrome. (18250610)
2007
21
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
22
Sensori-neural deafness and hypothyroidism: autoimmunity causing 'pseudo-Pendred syndrome'. (16582570)
2006
23
CT of the ear in Pendred syndrome. (15758191)
2005
24
Pendred syndrome: study of three families. (16482981)
2005
25
Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations. (14679580)
2004
26
A pedigree with Pendred syndrome: case report and discussion on hereditary hearing loss. (15513511)
2004
27
Enlarged endolymphatic duct and sac syndrome: relationship between MR findings and genotype of mutation in Pendred syndrome gene. (14972391)
2004
28
Loss of KCNJ10 protein expression abolishes endocochlear potential and causes deafness in Pendred syndrome mouse model. (15320950)
2004
29
Neuro-otological findings in Pendred syndrome. (12641391)
2003
30
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
31
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
32
Differential diagnosis between Pendred and pseudo-Pendred syndromes: clinical, radiologic, and molecular studies. (11919333)
2002
33
Phenotypes associated with replacement of His by Arg in the Pendred syndrome gene. (11720893)
2001
34
Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations. (11317356)
2001
35
Expression of pendrin and the Pendred syndrome (PDS) gene in human thyroid tissues. (10843192)
2000
36
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
37
Pendred syndrome: phenotypic variability in two families carrying the same PDS missense mutation. (10602116)
2000
38
Prevalence, age of onset, and natural history of thyroid disease in Pendred syndrome. (10465108)
1999
39
The Pendred syndrome gene encodes a chloride-iodide transport protein. (10192399)
1999
40
Histopathological findings suggest the diagnosis in an atypical case of Pendred syndrome. (10607000)
1999
41
Identification of two different mutations in the PDS gene in an inbred family with Pendred syndrome. (10874637)
1999
42
Progressive sensorineural hearing loss and a widened vestibular aqueduct in Pendred syndrome. (9604973)
1998
43
Townes-Brocks and Pendred syndrome in the same patient. (9600745)
1998
44
Pendred syndrome--100 years of underascertainment? (9302427)
1997
45
Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). (9398842)
1997
46
The gene for Pendred syndrome is located between D7S501 and D7S692 in a 1.7-cM region on chromosome 7q. (9070918)
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

About this section

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 pathogenicrs727505230GRCh38Chr 7, 107700181: 107700181
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 pathogenicrs786204426GRCh38Chr 7, 107661644: 107661644
9SLC26A4NM_000441.1(SLC26A4): c.1547dupC (p.Ser517Phefs)duplicationLikely pathogenicrs786204450GRCh37Chr 7, 107338489: 107338489
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 pathogenicrs786204504GRCh38Chr 7, 107661806: 107661806
14SLC26A4NM_000441.1(SLC26A4): c.269C> T (p.Ser90Leu)single nucleotide variantLikely 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)single nucleotide variantLikely pathogenicrs542620119GRCh37Chr 7, 107314747: 107314747
17SLC26A4NM_000441.1(SLC26A4): c.1975G> C (p.Val659Leu)single nucleotide variantLikely pathogenicrs200455203GRCh38Chr 7, 107701998: 107701998
18SLC26A4NM_000441.1(SLC26A4): c.235C> T (p.Arg79Ter)single nucleotide variantLikely 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
21NM_000441.1(SLC26A4): c.84C> A (p.Ser28Arg)single nucleotide variantLikely pathogenicrs539699299GRCh37Chr 7, 107302170: 107302170
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 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)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

About this section
Search GEO for disease gene expression data for Pendred Syndrome.

Pathways for genes affiliated with Pendred Syndrome

About this section

Pathways related to Pendred Syndrome according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.9TG, TPO
2
Show member pathways
9.0DUOX2, PAX8, SLC26A4, TG, TPO

GO Terms for genes affiliated with Pendred Syndrome

About this section

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

idNameGO IDScoreTop Affiliating Genes
1membraneGO:00160207.4SLC12A3, SLC26A2, SLC26A3, SLC26A4, SLC26A5, SLC4A1

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1iodide transportGO:001570510.4SLC26A4, TG
2hydrogen peroxide catabolic processGO:004274410.4DUOX2, TPO
3chloride transportGO:000682110.3SLC26A3, SLC26A4
4thyroid gland developmentGO:003087810.3DUOX2, TG
5oxalate transportGO:00195329.7SLC26A2, SLC26A3, SLC26A4, SLC26A5
6anion transmembrane transportGO:00986569.7SLC26A3, SLC26A5, SLC4A1
7hormone biosynthetic processGO:00424469.6DUOX2, TG, TPO
8thyroid hormone generationGO:00065909.6DUOX2, TG, TPO
9regulation of membrane potentialGO:00423919.4KCNJ10, SLC26A2, SLC26A4
10chloride transmembrane transportGO:19024769.2SLC26A2, SLC26A3, SLC26A4, SLC26A5, SLC4A1
11regulation of intracellular pHGO:00514539.0SLC26A2, SLC26A3, SLC26A4, SLC26A5, SLC4A1
12transmembrane transportGO:00550857.3SLC12A3, SLC26A2, SLC26A3, SLC26A4, SLC26A5, SLC4A1

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

idNameGO IDScoreTop Affiliating Genes
1chloride channel activityGO:000525410.0SLC26A3, SLC26A4
2oxalate transmembrane transporter activityGO:00195319.6SLC26A3, SLC26A4, SLC26A5
3transporter activityGO:00052159.3SLC26A3, SLC4A1

Sources for Pendred Syndrome

About this section
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