MCID: PND002
MIFTS: 56

Pendred Syndrome malady

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

Aliases & Classifications for Pendred Syndrome

About this section
Sources:
11Disease Ontology, 12diseasecard, 25Genetics Home Reference, 26GTR, 29ICD10, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot, 70Wikipedia
See all MalaCards sources

Aliases & Descriptions for Pendred Syndrome:

Name: Pendred Syndrome 51 11 70 47 25 53 69 12 49 38
Goiter-Deafness Syndrome 11 47 25 53 69
Deafness with Goiter 11 47 25 69
Pendred's Syndrome 25 26 67
Thyroid Dyshormonogenesis 2b 11 69
Tdh2b 11 69
 
Pds 47 69
Autosomal Recessive Sensorineural Hearing Impairment, Enlarged Vestibular Aqueduct, and Goiter 25
Autosomal Recessive Sensorineural Hearing Impairment and Goiter 47
Congenital Hypothyroidism Due to Dyshormonogenesis 2b 11
Genetic Defect in Thyroid Hormonogenesis 2b 11

Characteristics:

Orphanet epidemiological data:

53
pendred syndrome:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy

HPO:

63
pendred syndrome:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 274600
Disease Ontology11 DOID:0060744
ICD1029 E07.1
Orphanet53 ORPHA705
MESH via Orphanet39 C536648
UMLS via Orphanet68 C0271829
ICD10 via Orphanet30 E07.1
MedGen36 C0271829

Summaries for Pendred Syndrome

About this section
NIH Rare Diseases:47 Pendred syndrome is a condition usually characterized by sensorineural hearing loss in both ears (bilateral) and euthyroid goiter (enlargement of the thyroid gland with normal thyroid gland function). The amount of hearing loss varies among affected people. In many cases, significant hearing loss is present at birth. In other cases, hearing loss does not develop until later in infancy or childhood. Some people have problems with balance caused by dysfunction of the part of the inner ear that helps with balance and orientation (the vestibular system). Pendred syndrome is inherited in an autosomal recessive manner. Mutations in 3 genes are currently known to cause the condition (SLC26A4, FOXI1, and KCNJ10) and are found in about half of affected people. Other genes responsible for the condition have not yet been identified. Last updated: 11/24/2014

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

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

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

OMIM:51 Pendred syndrome, the most common syndromal form of deafness, is an autosomal recessive disorder associated with... (274600) more...

UniProtKB/Swiss-Prot:69 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:70 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 77)
idRelated DiseaseScoreTop Affiliating Genes
1foxi1-related pendred syndrome11.8
2kcnj10-related pendred syndrome11.8
3slc26a4-related pendred syndrome11.8
4parkinson disease, late-onset11.7
5pendred syndrome/dfnb411.5
6prolidase deficiency11.5
7ehlers-danlos syndrome, progeroid type, 111.0
8multiple system atrophy11.0
9corticobasal degeneration11.0
10pigment dispersion syndrome10.8
11kufor-rakeb syndrome10.7
12parkinson disease 19, juvenile-onset10.7
13parkinson disease 2110.7
14parkinson disease 1810.7
15dementia, lewy body10.7
16epilepsy, pyridoxine-dependent10.7
17convulsions, familial infantile, with paroxysmal choreoathetosis10.7
18parkinson disease 1710.7
19parkinson disease 20, early-onset10.7
20frontotemporal lobar degeneration with ubiquitin-positive inclusions10.7
21diphallia10.7
22hyperlipidemia type 310.7
23ovarian endometrioid cystadenoma10.6TG, TPO
24rhabdomyosarcoma, embryonal, 210.6TG, TPO
25peripheral scars of retina10.5TG, TPO
26phosphorylase kinase deficiency10.5FOXI1, KCNJ10, SLC26A4
27nodular goiter10.5TG, TPO
28sublingual gland cancer10.5GJB2, SLC26A4
29hyperglycemia10.5GJB2, MITF
30hyperimmunoglobulin syndrome10.5FOXI1, GJB2, SLC26A4
31nodular prostate10.5FOXI1, TG, TPO
32pyelitis10.5FOXI1, GJB2, SLC26A4
33hashimoto thyroiditis10.4SLC26A4, TG, TPO
34waardenburg syndrome, type 110.4MITF, PAX3
35thyroiditis10.4
36chronic frontal sinusitis10.3TG, TPO
37conjunctival cancer10.3MITF, PAX3
38dihydrolipoamide dehydrogenase deficiency10.3FOXI1, GJB2, KCNJ10, SLC26A4
39cataract 29, coralliform10.3AQP2, KCNJ10, SLC12A3
40hypertelorism, preauricular sinus, punctal pits, and deafness10.2TG, TPO
41acquired central diabetes insipidus10.2PAX8, SLC26A4, TG
42hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia10.2PAX8, SLC26A4, TG
43hyperaldosteronism10.2MITF, PAX3
44goiter10.2
45crohn's disease of the esophagus10.2PAX8, TG, TPO
46kidney benign neoplasm10.2PAX8, TG, TPO
47iatrogenic or traumatic pituitary deficiency10.1DUOX2, TG, TPO
48atrial standstill10.1PAX8, TG, TPO
49secretory diarrhea myopathy and deafness10.1SLC26A2, SLC26A3
50frontotemporal dementia and/or amyotrophic lateral sclerosis 410.1PAX8, TG, TPO

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



Diseases related to pendred syndrome

Symptoms for Pendred Syndrome

About this section

Symptoms by clinical synopsis from OMIM:

274600

Clinical features from OMIM:

274600

Human phenotypes related to Pendred Syndrome:

 63 53 (show all 23)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorineural hearing impairment63 53 hallmark (90%) Very frequent (99-80%) HP:0000407
2 hypothyroidism63 53 typical (50%) Frequent (79-30%) HP:0000821
3 goiter63 53 typical (50%) Frequent (79-30%) HP:0000853
4 nephropathy63 53 occasional (7.5%) Occasional (29-5%) HP:0000112
5 hyperparathyroidism63 53 occasional (7.5%) Occasional (29-5%) HP:0000843
6 respiratory insufficiency63 53 occasional (7.5%) Occasional (29-5%) HP:0002093
7 neurological speech impairment63 53 occasional (7.5%) Occasional (29-5%) HP:0002167
8 incoordination63 occasional (7.5%) HP:0002311
9 vertigo63 53 occasional (7.5%) Occasional (29-5%) HP:0002321
10 tracheal stenosis63 53 occasional (7.5%) Occasional (29-5%) HP:0002777
11 neoplasm of the thyroid gland63 occasional (7.5%) HP:0100031
12 cognitive impairment63 occasional (7.5%) HP:0100543
13 intellectual disability63 53 Occasional (29-5%) HP:0001249
14 vestibular dysfunction63 HP:0001751
15 abnormality of metabolism/homeostasis63 HP:0001939
16 thyroid carcinoma63 53 Occasional (29-5%) HP:0002890
17 compensated hypothyroidism63 HP:0008223
18 congenital sensorineural hearing impairment63 HP:0008527
19 cochlear malformation63 HP:0008554
20 abnormality of the inner ear53 Very frequent (99-80%)
21 ataxia53 Occasional (29-5%)
22 hypoplasia of the cochlea53 Very frequent (99-80%)
23 enlarged vestibular aqueduct53 Very frequent (99-80%)

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


Cochrane evidence based reviews: pendred syndrome

Genetic Tests for Pendred Syndrome

About this section

Genetic tests related to Pendred Syndrome:

id Genetic test Affiliating Genes
1 Pendred's Syndrome26

Anatomical Context for Pendred Syndrome

About this section

MalaCards organs/tissues related to Pendred Syndrome:

35
Thyroid

Animal Models for Pendred Syndrome or affiliated genes

About this section

MGI Mouse Phenotypes related to Pendred Syndrome:

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

Publications for Pendred Syndrome

About this section

Articles related to Pendred Syndrome:

(show top 50)    (show all 125)
idTitleAuthorsYear
1
Patients with Pendred syndrome:is cochlear implantation beneficial? (26331303)
2015
2
Analysis of the Thyroid Phenotype in 42 Patients with Pendred Syndrome and Nonsyndromic Enlargement of the Vestibular Aqueduct. (24224479)
2014
3
Mutations in the Pendred Syndrome (PDS/SLC26A) Gene: An Increasingly Complex Phenotypic Spectrum From Goiter to Thyroid Hypoplasia. (24384016)
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
Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in Pendred syndrome/enlarged vestibular aqueducts. (23965030)
2013
6
CT-Scans of Cochlear Implant Patients with Characteristics of Pendred Syndrome. (24429823)
2013
7
Compound Heterozygosity for Two Novel SLC26A4 Mutations in a Large Iranian Pedigree with Pendred Syndrome. (24353858)
2013
8
Pendred syndrome with retrosternal goitre- a rare case report. (24426607)
2013
9
A novel insertion-induced frameshift mutation of the SLC26A4 gene in a Korean family with Pendred syndrome. (22884721)
2012
10
Cochlear implantation in Pendred syndrome. (21917203)
2011
11
Life-threatening metabolic alkalosis in Pendred syndrome. (21551164)
2011
12
Mutation analysis of SLC26A4 for Pendred syndrome and nonsyndromic hearing loss by high-resolution melting. (21704276)
2011
13
Genetics and phenomics of Pendred syndrome. (20298745)
2010
14
Pendred syndrome in Tunisia. (20822748)
2010
15
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
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
Phenotypes of SLC26A4 gene mutations: Pendred syndrome and hypoacusis with enlarged vestibular aqueduct. (18283249)
2008
18
Pendred syndrome and iodide transport in the thyroid. (18692402)
2008
19
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
20
Pendred syndrome among patients with congenital hypothyroidism detected by neonatal screening: identification of two novel PDS/SLC26A4 mutations. (17876604)
2008
21
Goitre and hearing impairment in a patient with Pendred syndrome. (18349467)
2008
22
Two common and three novel PDS mutations in Thai patients with Pendred syndrome. (18250610)
2007
23
Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4). (17503324)
2007
24
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
25
Sensori-neural deafness and hypothyroidism: autoimmunity causing 'pseudo-Pendred syndrome'. (16582570)
2006
26
Functional characterization of wild-type and a mutated form of SLC26A4 identified in a patient with Pendred syndrome. (16791000)
2006
27
The H723R mutation in the PDS/SLC26A4 gene is associated with typical Pendred syndrome in Korean patients. (17322586)
2006
28
Pendred syndrome: study of three families. (16482981)
2005
29
Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations. (14679580)
2004
30
Enlarged endolymphatic duct and sac syndrome: relationship between MR findings and genotype of mutation in Pendred syndrome gene. (14972391)
2004
31
Intrafamilial variability of the deafness and goiter phenotype in Pendred syndrome caused by a T416P mutation in the SLC26A4 gene. (15531480)
2004
32
Neuro-otological findings in Pendred syndrome. (12641391)
2003
33
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
34
Unilateral corneal anaesthesia and ulceration following squint surgery in a child with Pendred syndrome and bilateral sixth nerve palsy. (12928303)
2003
35
Hypermethylation of the Pendred syndrome gene SLC26A4 is an early event in thyroid tumorigenesis. (12727855)
2003
36
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
37
Pendred syndrome redefined. Report of a new family with fluctuating and progressive hearing loss. (12408075)
2002
38
Phenotypes associated with replacement of His by Arg in the Pendred syndrome gene. (11720893)
2001
39
Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations. (11317356)
2001
40
Targeted disruption of mouse Pds provides insight about the inner-ear defects encountered in Pendred syndrome. (11152663)
2001
41
Expression of pendrin and the Pendred syndrome (PDS) gene in human thyroid tissues. (10843192)
2000
42
Mutations of the Pendred syndrome gene (PDS) in patients with large vestibular aqueduct. (11603758)
2000
43
The PDS gene, Pendred syndrome and non-syndromic deafness DFNB4. (10868226)
2000
44
The Pendred syndrome gene encodes a chloride-iodide transport protein. (10192399)
1999
45
Pendred syndrome--100 years of underascertainment? (9302427)
1997
46
Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). (9398842)
1997
47
Pendred syndrome: evidence for genetic homogeneity and further refinement of linkage. (9039988)
1997
48
Pendred syndrome. (9004139)
1996
49
Probable Pendred syndrome on Goodenough Island. (6937026)
1980
50
Pendred syndrome (hereditary goiter and deafness). (5173174)
1971

Variations for Pendred Syndrome

About this section

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

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

Clinvar genetic disease variations for Pendred Syndrome:

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

Expression for genes affiliated with Pendred Syndrome

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

Pathways for genes affiliated with Pendred Syndrome

About this section

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
1basolateral plasma membraneGO:00163239.0AQP2, KCNJ10, SLC26A5, SLC4A1
2apical plasma membraneGO:00163248.7AQP2, DUOX2, SLC12A3, SLC26A3, SLC26A4
3integral component of plasma membraneGO:00058876.3AQP2, KCNJ10, PTPRJ, SLC12A3, SLC26A2, SLC26A3
4plasma membraneGO:00058864.9AQP2, BAMBI, DUOX2, GJB2, KCNJ10, PTPRJ

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

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1iodide transportGO:001570510.7SLC26A4, TG
2sulfate transportGO:000827210.7SLC26A2, SLC26A4
3hydrogen peroxide catabolic processGO:004274410.5DUOX2, TPO
4anion transportGO:000682010.2SLC26A3, SLC4A1
5thyroid gland developmentGO:003087810.2DUOX2, PAX8, TG
6thyroid hormone metabolic processGO:004240310.2DUOX2, TG
7sulfate transmembrane transportGO:190235810.1SLC26A2, SLC26A3, SLC26A4, SLC26A5
8oxalate transportGO:001953210.1SLC26A2, SLC26A3, SLC26A4, SLC26A5
9hormone biosynthetic processGO:00424469.9DUOX2, TG, TPO
10thyroid hormone generationGO:00065909.8DUOX2, TG, TPO
11ion transportGO:00068119.7SLC12A3, SLC26A2, SLC26A3, SLC26A4
12regulation of intracellular pHGO:00514539.4SLC26A2, SLC26A3, SLC26A4, SLC26A5, SLC4A1
13sensory perception of soundGO:00076059.3GJB2, PAX3, SLC26A4, SLC26A5
14bicarbonate transportGO:00157019.2SLC26A2, SLC26A3, SLC26A4, SLC26A5, SLC4A1
15regulation of membrane potentialGO:00423918.9KCNJ10, SLC26A2, SLC26A3, SLC26A4, SLC26A5
16chloride transmembrane transportGO:19024768.9SLC12A3, SLC26A2, SLC26A3, SLC26A4, SLC26A5, SLC4A1
17positive 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 9)
idNameGO IDScoreTop Affiliating Genes
1inorganic anion exchanger activityGO:000545210.0SLC26A3, SLC4A1
2peroxidase activityGO:000460110.0DUOX2, TPO
3oxalate transmembrane transporter activityGO:00195319.9SLC26A2, SLC26A3, SLC26A4, SLC26A5
4secondary active sulfate transmembrane transporter activityGO:00082719.9SLC26A2, SLC26A3, SLC26A4, SLC26A5
5sulfate transmembrane transporter activityGO:00151169.9SLC26A2, SLC26A3, SLC26A4, SLC26A5
6chloride transmembrane transporter activityGO:00151089.7SLC26A3, SLC26A4, SLC4A1
7anion:anion antiporter activityGO:00153019.3SLC26A2, SLC26A3, SLC26A4, SLC26A5, SLC4A1
8bicarbonate transmembrane transporter activityGO:00151069.2SLC26A2, SLC26A3, SLC26A4, SLC26A5, SLC4A1
9chloride channel activityGO:00052549.2SLC26A2, SLC26A3, SLC26A4, SLC26A5

Sources for Pendred Syndrome

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet