MCID: PND002
MIFTS: 52

Pendred Syndrome malady

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

Aliases & Classifications for Pendred Syndrome

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Sources:
50OMIM, 69Wikipedia, 46NIH Rare Diseases, 24Genetics Home Reference, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 48Novoseek, 66UMLS, 67UMLS via Orphanet, 29ICD10 via Orphanet, 38MESH via Orphanet, 35MedGen, 37MeSH, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Pendred Syndrome:

Name: Pendred Syndrome 50 69 46 24 52 68 12 48
Goiter-Deafness Syndrome 46 24 52 68
Deafness with Goiter 46 24 68
Pendred's Syndrome 24 25 66
Pds 46 68
 
Autosomal Recessive Sensorineural Hearing Impairment, Enlarged Vestibular Aqueduct, and Goiter 24
Autosomal Recessive Sensorineural Hearing Impairment and Goiter 46
Thyroid Dyshormonogenesis 2b 68
Tdh2b 68

Characteristics:

Orphanet epidemiological data:

52
pendred syndrome:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy

HPO:

62
pendred syndrome:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 274600
Orphanet52 ORPHA705
UMLS via Orphanet67 C0271829
ICD10 via Orphanet29 E07.1
MESH via Orphanet38 C536648
MedGen35 C0271829
MeSH37 D006042

Summaries for Pendred Syndrome

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NIH Rare Diseases:46 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 Amine-derived hormones. Affiliated tissues include thyroid, and related mouse phenotypes are hearing/vestibular/ear and skeleton.

UniProtKB/Swiss-Prot:68 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:24 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:50 Pendred syndrome, the most common syndromal form of deafness, is an autosomal recessive disorder associated with... (274600) more...

Wikipedia:69 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 64)
idRelated DiseaseScoreTop Affiliating Genes
1foxi1-related pendred syndrome11.9
2kcnj10-related pendred syndrome11.9
3slc26a4-related pendred syndrome11.9
4pendred syndrome/dfnb411.7
5prolidase deficiency11.5
6parkinson disease, late-onset11.4
7ehlers-danlos syndrome progeroid type11.1
8acquired central diabetes insipidus10.6SLC26A4, TG
9hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia10.5SLC26A4, TG
10thyroiditis10.5
11ovarian endometrioid cystadenoma10.5TG, TPO
12sublingual gland cancer10.4GJB2, SLC26A4
13rhabdomyosarcoma, embryonal, 210.4TG, TPO
14crohn's disease of the esophagus10.4TG, TPO
15peripheral scars of retina10.4TG, TPO
16nodular goiter10.4TG, TPO
17multiple system atrophy10.4
18chronic frontal sinusitis10.4TG, TPO
19hypertelorism, preauricular sinus, punctal pits, and deafness10.4TG, TPO
20hypothryoidism, congenital, nongoitrous 410.3TG, TPO
21goiter10.3
22dysautonomia, familial10.3TG, TPO
23corticobasal degeneration10.3
24phosphorylase kinase deficiency10.3FOXI1, KCNJ10, SLC26A4
25cd3zeta deficiency10.3TG, TPO
26malignant mediastinum hemangiopericytoma10.2TG, TPO
27hyperimmunoglobulin syndrome10.2FOXI1, GJB2, SLC26A4
28meningovascular neurosyphilis10.2SLC26A4, TG, TPO
29pyelitis10.2FOXI1, GJB2, SLC26A4
30lung occult large cell carcinoma10.2TG, TPO
31nodular prostate10.2FOXI1, TG, TPO
32hashimoto thyroiditis10.2SLC26A4, TG, TPO
33pancreas disease10.2
34endotheliitis10.1
35hereditary conventional renal cell carcinoma10.1TG, TPO
36blood group incompatibility10.1TG, TPO
37peritonitis10.1
38sensorineural hearing loss10.1
39hypothyroidism10.1
40kidney benign neoplasm10.0TG, TPO
41iatrogenic or traumatic pituitary deficiency10.0DUOX2, TG, TPO
42primary bacterial infectious disease10.0DUOX2, TG, TPO
43cervicitis10.0
44neuronitis10.0
45rem sleep behavior disorder10.0
46tremor10.0
47pigment dispersion syndrome9.9
48lipoma of the rectum9.9FOXI1, TG
49panic disorder9.9
50asthma9.8

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:

 52 (show all 15)
  • nephropathy
  • abnormality of the inner ear
  • sensorineural hearing impairment
  • hypothyroidism
  • hyperparathyroidism
  • goiter
  • intellectual disability
  • ataxia
  • respiratory insufficiency
  • neurological speech impairment
  • vertigo
  • tracheal stenosis
  • thyroid carcinoma
  • hypoplasia of the cochlea
  • enlarged vestibular aqueduct

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 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 goiter HP:0000853
14 intellectual disability HP:0001249
15 vestibular dysfunction HP:0001751
16 abnormality of metabolism/homeostasis HP:0001939
17 thyroid carcinoma HP:0002890
18 compensated hypothyroidism HP:0008223
19 congenital sensorineural hearing impairment HP:0008527
20 cochlear malformation HP:0008554

UMLS symptoms related to Pendred Syndrome:


clumsiness, restlessness

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 Syndrome25

Anatomical Context for Pendred Syndrome

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MalaCards organs/tissues related to Pendred Syndrome:

34
Thyroid

Animal Models for Pendred Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Pendred Syndrome:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.4DUOX2, FOXI1, GJB2, KCNJ10, SLC26A4, TPO
2MP:00053907.8DUOX2, FOXI1, GJB2, SLC26A2, SLC26A4, TPO
3MP:00053766.1DUOX2, FOXI1, GJB2, KCNJ10, PTGDS, SLC26A3

Publications for Pendred Syndrome

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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

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

68 (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 95)
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 pathogenicrs786204426GRCh37Chr 7, 107302089: 107302089
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 pathogenicrs786204504GRCh37Chr 7, 107302251: 107302251
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 pathogenic, 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 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
28SLC26A4NM_000441.1(SLC26A4): c.1544+1G> Asingle nucleotide variantPathogenicrs876657722GRCh38Chr 7, 107696040: 107696040
29SLC26A4NM_000441.1(SLC26A4): c.2171A> G (p.Asp724Gly)single nucleotide variantPathogenicrs757820624GRCh37Chr 7, 107350580: 107350580
30SLC26A4NM_000441.1(SLC26A4): c.2224delA (p.Ile742Phefs)deletionPathogenicrs876657723GRCh38Chr 7, 107710188: 107710188
31SLC26A4NM_000441.1(SLC26A4): c.578C> T (p.Thr193Ile)single nucleotide variantPathogenicrs111033348GRCh37Chr 7, 107314771: 107314771
32NM_000441.1(SLC26A4): c.-3-2A> Gsingle nucleotide variantPathogenicrs397516411GRCh37Chr 7, 107302082: 107302082
33SLC26A4NM_000441.1(SLC26A4): c.1149+3A> Gsingle nucleotide variantPathogenicrs111033314GRCh37Chr 7, 107329648: 107329648
34SLC26A4NM_000441.1(SLC26A4): c.1198delT (p.Cys400Valfs)deletionLikely pathogenic, Pathogenicrs397516413GRCh37Chr 7, 107330617: 107330617
35SLC26A4NM_000441.1(SLC26A4): c.1204G> A (p.Val402Met)single nucleotide variantLikely pathogenicrs397516414GRCh37Chr 7, 107330623: 107330623
36SLC26A4NM_000441.1(SLC26A4): c.1226G> A (p.Arg409His)single nucleotide variantPathogenicrs111033305GRCh37Chr 7, 107330645: 107330645
37SLC26A4NM_000441.1(SLC26A4): c.1226G> C (p.Arg409Pro)single nucleotide variantLikely pathogenicrs111033305GRCh37Chr 7, 107330645: 107330645
38SLC26A4NM_000441.1(SLC26A4): c.1229C> T (p.Thr410Met)single nucleotide variantPathogenicrs111033220GRCh37Chr 7, 107330648: 107330648
39SLC26A4NM_000441.1(SLC26A4): c.1264-1G> Csingle nucleotide variantLikely pathogenic, Pathogenicrs111033311GRCh37Chr 7, 107334847: 107334847
40SLC26A4NM_000441.1(SLC26A4): c.1284_1286delTGC (p.Ala429del)deletionLikely pathogenic, Pathogenicrs111033306GRCh37Chr 7, 107334868: 107334870
41SLC26A4NM_000441.1(SLC26A4): c.1336C> T (p.Gln446Ter)single nucleotide variantLikely pathogenic, Pathogenicrs397516416GRCh37Chr 7, 107334920: 107334920
42SLC26A4NM_000441.1(SLC26A4): c.1341+1delGdeletionPathogenicrs397516417GRCh37Chr 7, 107334926: 107334926
43SLC26A4NM_000441.1(SLC26A4): c.1342-2_1343dupAGTCduplicationPathogenicrs111033407GRCh37Chr 7, 107335064: 107335067
44SLC26A4NM_000441.1(SLC26A4): c.1437+2T> Gsingle nucleotide variantPathogenicrs397516418GRCh37Chr 7, 107335163: 107335163
45SLC26A4NM_000441.1(SLC26A4): c.1489G> A (p.Gly497Ser)single nucleotide variantLikely pathogenic, Pathogenicrs111033308GRCh37Chr 7, 107336429: 107336429
46SLC26A4NM_000441.1(SLC26A4): c.1541A> G (p.Gln514Arg)single nucleotide variantLikely pathogenicrs111033316GRCh37Chr 7, 107336481: 107336481
47SLC26A4NM_000441.1(SLC26A4): c.1548_1549insC (p.Ser517Leufs)insertionLikely pathogenicrs111033317GRCh37Chr 7, 107338490: 107338491
48SLC26A4NM_000441.1(SLC26A4): c.1614+1G> Asingle nucleotide variantPathogenicrs111033312GRCh37Chr 7, 107338557: 107338557
49SLC26A4NM_000441.1(SLC26A4): c.164+2T> Csingle nucleotide variantPathogenicrs397516420GRCh37Chr 7, 107302252: 107302252
50SLC26A4NM_000441.1(SLC26A4): c.1694G> A (p.Cys565Tyr)single nucleotide variantLikely pathogenicrs111033257GRCh37Chr 7, 107340607: 107340607
51SLC26A4NM_000441.1(SLC26A4): c.170C> G (p.Ser57Ter)single nucleotide variantLikely pathogenicrs111033200GRCh37Chr 7, 107303746: 107303746
52SLC26A4NM_000441.1(SLC26A4): c.1963A> G (p.Ile655Val)single nucleotide variantLikely pathogenicrs397516424GRCh37Chr 7, 107342431: 107342431
53SLC26A4NM_000441.1(SLC26A4): c.2015G> A (p.Gly672Glu)single nucleotide variantPathogenicrs111033309GRCh37Chr 7, 107342483: 107342483
54SLC26A4NM_000441.1(SLC26A4): c.2027T> A (p.Leu676Gln)single nucleotide variantLikely pathogenic, Pathogenicrs111033318GRCh37Chr 7, 107342495: 107342495
55SLC26A4NM_000441.1(SLC26A4): c.2145G> T (p.Lys715Asn)single nucleotide variantLikely pathogenicrs397516427GRCh37Chr 7, 107350554: 107350554
56SLC26A4NM_000441.1(SLC26A4): c.2188C> T (p.Gln730Ter)single nucleotide variantPathogenicrs397516428GRCh37Chr 7, 107350597: 107350597
57SLC26A4NM_000441.1(SLC26A4): c.294_298delCACGC (p.Thr99Alafs)deletionPathogenicrs111033241GRCh37Chr 7, 107303870: 107303874
58NM_000441.1(SLC26A4): c.2T> C (p.Met1Thr)single nucleotide variantPathogenicrs111033302GRCh37Chr 7, 107302088: 107302088
59SLC26A4NM_000441.1(SLC26A4): c.349C> T (p.Leu117Phe)single nucleotide variantPathogenicrs145254330GRCh37Chr 7, 107312627: 107312627
60SLC26A4NM_000441.1(SLC26A4): c.397_398delTCinsA (p.Ser133Lysfs)indelLikely pathogenicrs111033400GRCh37Chr 7, 107312675: 107312676
61SLC26A4NM_000441.1(SLC26A4): c.589G> A (p.Gly197Arg)single nucleotide variantLikely pathogenicrs111033380GRCh37Chr 7, 107314782: 107314782
62NM_000441.1(SLC26A4): c.68C> A (p.Ser23Ter)single nucleotide variantLikely pathogenic, Pathogenicrs397516430GRCh37Chr 7, 107302154: 107302154
63SLC26A4NM_000441.1(SLC26A4): c.706C> G (p.Leu236Val)single nucleotide variantLikely pathogenicrs111033242GRCh37Chr 7, 107315495: 107315495
64SLC26A4NM_000441.1(SLC26A4): c.716T> A (p.Val239Asp)single nucleotide variantLikely pathogenic, Pathogenicrs111033256GRCh37Chr 7, 107315505: 107315505
65SLC26A4NM_000441.1(SLC26A4): c.765+2T> Csingle nucleotide variantPathogenicrs397516432GRCh37Chr 7, 107315556: 107315556
66SLC26A4NM_000441.1(SLC26A4): c.845G> A (p.Cys282Tyr)single nucleotide variantLikely pathogenicrs111033454GRCh37Chr 7, 107323726: 107323726
67NM_000441.1(SLC26A4): c.85G> T (p.Glu29Ter)single nucleotide variantLikely pathogenicrs111033205GRCh37Chr 7, 107302171: 107302171
68SLC26A4NM_000441.1(SLC26A4): c.918+1G> Tsingle nucleotide variantLikely pathogenicrs111033245GRCh37Chr 7, 107323800: 107323800
69SLC26A4NM_000441.1(SLC26A4): c.2000T> G (p.Phe667Cys)single nucleotide variantPathogenicrs121908360GRCh37Chr 7, 107342468: 107342468
70SLC26A4SLC26A4, 1-BP DEL, 1565GdeletionPathogenic
71SLC26A4SLC26A4, 1-BP DEL, 1421TdeletionPathogenic
72SLC26A4NM_000441.1(SLC26A4): c.1489G> A (p.Gly497Ser)single nucleotide variantLikely pathogenic, Pathogenicrs111033308GRCh37Chr 7, 107336429: 107336429
73SLC26A4NM_000441.1(SLC26A4): c.707T> C (p.Leu236Pro)single nucleotide variantPathogenicrs80338848GRCh37Chr 7, 107315496: 107315496
74SLC26A4NM_000441.1(SLC26A4): c.1246A> C (p.Thr416Pro)single nucleotide variantPathogenicrs28939086GRCh37Chr 7, 107330665: 107330665
75SLC26A4NM_000441.1(SLC26A4): c.1001+1G> Asingle nucleotide variantPathogenicrs80338849GRCh37Chr 7, 107323983: 107323983
76SLC26A4NM_000441.1(SLC26A4): c.1151A> G (p.Glu384Gly)single nucleotide variantPathogenicrs111033244GRCh37Chr 7, 107330570: 107330570
77SLC26A4NM_000441.1(SLC26A4): c.626G> T (p.Gly209Val)single nucleotide variantPathogenicrs111033303GRCh37Chr 7, 107315415: 107315415
78SLC26A4NM_000441.1(SLC26A4): c.2168A> G (p.His723Arg)single nucleotide variantPathogenicrs121908362GRCh37Chr 7, 107350577: 107350577
79SLC26A4NM_000441.1(SLC26A4): c.2162C> T (p.Thr721Met)single nucleotide variantLikely pathogenic, Pathogenicrs121908363GRCh37Chr 7, 107350571: 107350571
80SLC26A4SLC26A4, 1-BP DEL, 279TdeletionPathogenic
81SLC26A4SLC26A4, IVS4DS, A-G, +7single nucleotide variantPathogenic
82SLC26A4NM_000441.1(SLC26A4): c.1334T> G (p.Leu445Trp)single nucleotide variantPathogenicrs111033307GRCh37Chr 7, 107334918: 107334918
83SLC26A4NM_000441.1(SLC26A4): c.578C> T (p.Thr193Ile)single nucleotide variantPathogenicrs111033348GRCh37Chr 7, 107314771: 107314771
84SLC26A4SLC26A4, 1-BP DEL, 1197TdeletionPathogenic
85SLC26A4SLC26A4, 1-BP INS, 2182GinsertionPathogenic
86SLC26A4SLC26A4, IVS8, C-G, 1002-4single nucleotide variantPathogenic
87SLC26A4NM_000441.1(SLC26A4): c.397T> A (p.Ser133Thr)single nucleotide variantPathogenicrs121908365GRCh37Chr 7, 107312675: 107312675
88SLC26A4NM_000441.1(SLC26A4): c.412G> T (p.Val138Phe)single nucleotide variantPathogenicrs111033199GRCh37Chr 7, 107312690: 107312690
89SLC26A4NM_000441.1(SLC26A4): c.1588T> C (p.Tyr530His)single nucleotide variantLikely pathogenic, Pathogenicrs111033254GRCh37Chr 7, 107338530: 107338530
90NM_000441.1(SLC26A4): c.-103T> Csingle nucleotide variantPathogenicrs60284988GRCh37Chr 7, 107301201: 107301201
91NM_000441.1(SLC26A4): c.85G> C (p.Glu29Gln)single nucleotide variantLikely pathogenic, Pathogenicrs111033205GRCh37Chr 7, 107302171: 107302171
92SLC26A4NM_000441.1(SLC26A4): c.919-2A> Gsingle nucleotide variantPathogenicrs111033313GRCh37Chr 7, 107323898: 107323898
93SLC26A4NM_000441.1(SLC26A4): c.1003T> C (p.Phe335Leu)single nucleotide variantLikely pathogenic, Pathogenicrs111033212GRCh37Chr 7, 107329499: 107329499
94FOXI1NM_012188.4(FOXI1): c.800G> A (p.Arg267Gln)single nucleotide variantPathogenicrs121909341GRCh37Chr 5, 169535278: 169535278
95SLC26A4NM_000441.1(SLC26A4): c.997dupA (p.Arg333Lysfs)duplicationPathogenicrs431905486GRCh37Chr 7, 107323978: 107323978

Expression for genes affiliated with Pendred Syndrome

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Search GEO for disease gene expression data for Pendred Syndrome.

Pathways for genes affiliated with Pendred Syndrome

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

idSuper pathwaysScoreTop Affiliating Genes
19.5TG, TPO
2
Show member pathways
9.4DUOX2, TPO
3
Show member pathways
8.7DUOX2, SLC26A4, TG, TPO

GO Terms for genes affiliated with Pendred Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1brush border membraneGO:00315269.4SLC26A3, SLC26A4
2apical plasma membraneGO:00163248.9DUOX2, SLC26A3, SLC26A4
3integral component of plasma membraneGO:00058877.6KCNJ10, SLC26A2, SLC26A3, SLC26A4, TPO

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1iodide transportGO:001570510.3SLC26A4, TG
2sulfate transportGO:000827210.1SLC26A2, SLC26A4
3thyroid gland developmentGO:003087810.0DUOX2, TG
4hydrogen peroxide catabolic processGO:00427449.9DUOX2, TPO
5thyroid hormone metabolic processGO:00424039.7DUOX2, TG
6sulfate transmembrane transportGO:19023589.3SLC26A2, SLC26A3, SLC26A4
7oxalate transportGO:00195329.3SLC26A2, SLC26A3, SLC26A4
8regulation of intracellular pHGO:00514539.2SLC26A2, SLC26A3, SLC26A4
9chloride transmembrane transportGO:19024769.1SLC26A2, SLC26A3, SLC26A4
10thyroid hormone generationGO:00065909.1DUOX2, TG, TPO
11hormone biosynthetic processGO:00424469.0DUOX2, TG, TPO
12bicarbonate transportGO:00157019.0SLC26A2, SLC26A3, SLC26A4
13ion transportGO:00068119.0SLC26A2, SLC26A3, SLC26A4
14regulation of membrane potentialGO:00423918.4KCNJ10, SLC26A2, SLC26A3, SLC26A4

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1chloride transmembrane transporter activityGO:00151089.7SLC26A3, SLC26A4
2peroxidase activityGO:00046019.4DUOX2, TPO
3oxalate transmembrane transporter activityGO:00195319.2SLC26A2, SLC26A3, SLC26A4
4secondary active sulfate transmembrane transporter activityGO:00082719.2SLC26A2, SLC26A3, SLC26A4
5sulfate transmembrane transporter activityGO:00151169.2SLC26A2, SLC26A3, SLC26A4
6anion:anion antiporter activityGO:00153019.1SLC26A2, SLC26A3, SLC26A4
7bicarbonate transmembrane transporter activityGO:00151069.1SLC26A2, SLC26A3, SLC26A4
8chloride channel activityGO:00052548.4SLC26A2, SLC26A3, SLC26A4

Sources for Pendred Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet