PDS
MCID: PND002
MIFTS: 70

Pendred Syndrome (PDS) malady

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

Summaries for Pendred Syndrome

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22Genetics Home Reference, 44NIH Rare Diseases, 66Wikipedia, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 Pendred syndrome is a disorder typically associated with hearing loss and a thyroid condition called goiter. other abnormalities of the inner ear are also common in pendred syndrome. some affected individuals have problems with balance caused by dysfunction of the part of the inner ear that helps maintain the body's balance and orientation (the vestibular system). additionally, a structure called the vestibular aqueduct is unusually large in people with pendred syndrome. mutations in the slc26a4 gene cause about half of all familial cases of pendred syndrome. in some cases, the cause of pendred syndrome is unknown. researchers are looking for additional genetic changes that may underlie the condition.Ā pendred syndromeĀ is inherited in an autosomal recessive pattern. last updated: 7/26/2011

MalaCards: Pendred Syndrome, also known as goiter-deafness syndrome, is related to thyroiditis and enlarged vestibular aqueduct, and has symptoms including thyroid neoplasm/tumor/carcinoma/cancer, tracheal atresia/stenosis and hyperparathyroidy. An important gene associated with Pendred Syndrome is SLC26A4 (solute carrier family 26 (anion exchanger), member 4), and among its related pathways are Thyroxine (Thyroid Hormone) Production and Insulin secretion. The compounds iodotyrosine and diiodotyrosine have been mentioned in the context of this disorder. Affiliated tissues include thyroid and lung, and related mouse phenotypes are limbs/digits/tail and no phenotypic analysis.

Genetics Home Reference:22 Pendred syndrome is a disorder typically associated with hearing loss and a thyroid condition called goiter. A goiter is an enlargement of the thyroid gland, which is a butterfly-shaped organ at the base of the neck that produces hormones. If a goiter develops in a person with Pendred syndrome, it usually forms between late childhood and early adulthood. In most cases, this enlargement does not cause the thyroid gland to malfunction.

Wikipedia:66 Pendred syndrome or Pendred disease is a genetic disorder leading to congenital bilateral (both sides)... more...

Description from OMIM:48 274600

Aliases & Classifications for Pendred Syndrome

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Sources:
66Wikipedia, 44NIH Rare Diseases, 23GTR, 22Genetics Home Reference, 48OMIM, 46Novoseek, 50Orphanet, 63UMLS, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
pendred syndrome:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

pendred syndrome 66 44 23 22 48 46 50
goiter-deafness syndrome 66 44 22
deafness with goiter 66 44 22
autosomal recessive sensorineural hearing impairment and goiter 66 22
pendred's syndrome 22 63
complete hearing loss 63
goiter - deafness 50
pds 44


External Ids:

OMIM48 274600
MESH via Orphanet37 C536648
ICD10 via Orphanet27 E07.1
SNOMED-CT via Orphanet60 70348004
UMLS via Orphanet64 C0271829

Related Diseases for Pendred Syndrome

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18GeneCards, 19GeneDecks
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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/GeneDecks gene sharing:

(show top 50)    (show all 135)
idRelated DiseaseScoreTop Affiliating Genes
1thyroiditis31.1TG, TPO
2enlarged vestibular aqueduct30.9SLC26A4, GJB2
3goiter30.8TG, TPO, DIO2, PAX8, SLC26A4
4hypothyroidism30.6TG, SLC26A4, TPO
5sensorineural hearing loss30.4GJB2, COL4A5, MITF, TPO, SLC26A4
6autoimmune thyroiditis30.2TPO, TG
7nonsyndromic deafness30.2SLC26A5, GJB2, SLC26A4, FOXI1
8papillary thyroid carcinoma30.2TPO, TG, PAX8
9congenital hypothyroidism30.2PAX8, DUOX2, TG, TPO
10osteoporosis29.8MITF, SLC26A2, SLC12A3
11melanoma29.7SLC4A1, BAMBI, GJB2, MITF, PAX3
12parkinson's disease10.6
13endotheliitis10.4
14peritonitis10.4
15pancreas disease10.4
16paroxysmal dyskinesia10.3
17pyridoxine-dependent epilepsy10.2
18prolidase deficiency10.2
19foxi1-related pendred syndrome10.2
20kcnj10-related pendred syndrome10.2
21slc26a4-related pendred syndrome10.2
22neuronitis10.2
23rem sleep behavior disorder10.2
24cervicitis10.2
25tremor10.2
26pendred syndrome/dfnb410.1SLC26A4
27dementia10.1
28multiple system atrophy10.1
29atelosteogenesis10.1SLC26A5, SLC26A2
30achondrogenesis10.1SLC26A2, SLC26A5
31thyrotoxicosis10.1TPO, TG
32subacute thyroiditis10.1TPO, TG
33pernicious anemia10.1TPO, TG
34toxic diffuse goiter10.1TPO, TG
35endemic goiter10.1TPO, TG
36plummer's disease10.1TG, TPO
37thyroid agenesis10.1TG, PAX8
38nontoxic goiter10.1TPO, TG
39thyrotropin deficiency, isolated10.1TPO, TG
40myxedema10.1TPO, TG
41multinodular goiter10.1TPO, SLC26A4, TG
42hypokalemia10.1
43asthma10.1
44hypertension10.1
45hypothyroidism, autoimmune10.1
46nodular goiter10.1TPO, TG
47diastrophic dysplasia10.1SLC26A5, SLC26A4, SLC26A3, SLC26A2
48renal tubular acidosis10.1FOXI1, SLC4A1, SLC26A4
49thyroid adenoma10.1DIO2, TPO, TG
50turner syndrome10.0TG, TPO

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



Diseases related to pendred syndrome

Symptoms for Pendred Syndrome

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

274600

Clinical features from OMIM:

274600

Symptoms:

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

Drugs & Therapeutics for Pendred Syndrome

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Pendred Syndrome

Drug clinical trials:

Search ClinicalTrials for Pendred Syndrome

Search NIH Clinical Center for Pendred Syndrome

Search CenterWatch for Pendred Syndrome

Genetic Tests for Pendred Syndrome

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23GTR
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Genetic tests related to Pendred Syndrome:

id Genetic test Affiliating Genes
1 Pendred's Syndrome23

Anatomical Context for Pendred Syndrome

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34MalaCards
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MalaCards organs/tissues related to Pendred Syndrome:

34
Thyroid, Lung

Animal Models for Pendred Syndrome or affiliated genes

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38MGI
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Publications for Pendred Syndrome

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53PubMed
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Articles related to Pendred Syndrome:

(show top 50)    (show all 114)
idTitleAuthorsYear
1
Pathogenic substitution of IVS15 + 5G > A in SLC26A4 in patients of Okinawa Islands with enlarged vestibular aqueduct syndrome or Pendred syndrome. (23705809)
2013
2
A Novel mutation in the SLC26A4 gene in a Chinese family with Pendred syndrome. (23838540)
2013
3
Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in Pendred syndrome/enlarged vestibular aqueducts. (23965030)
2013
4
A novel insertion-induced frameshift mutation of the SLC26A4 gene in a Korean family with Pendred syndrome. (22884721)
2012
5
Cochlear implantation in Pendred syndrome. (21917203)
2011
6
An unfortunate case of Pendred syndrome. (21745434)
2011
7
Life-threatening metabolic alkalosis in Pendred syndrome. (21551164)
2011
8
Genetics and phenomics of Pendred syndrome. (20298745)
2010
9
A patient with Pendred syndrome whose goiter progressed with normal serum thyrotropin and iodine organification. (20583162)
2010
10
Pendred syndrome in two Galician families: insights into clinical phenotypes through cellular, genetic, and molecular studies. (17940114)
2008
11
Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA. (19017801)
2008
12
Thyroidectomy in a patient with multinodular dyshormonogenetic goitre--a case of Pendred syndrome confirmed by mutations in the PDS/SLC26A4 gene. (19189692)
2008
13
Profound hypokalemia and hypochloremic metabolic alkalosis during thiazide therapy in a child with Pendred syndrome. (18538122)
2008
14
Free radical stress-mediated loss of Kcnj10 protein expression in stria vascularis contributes to deafness in Pendred syndrome mouse model. (17959752)
2008
15
Phenotypes of SLC26A4 gene mutations: Pendred syndrome and hypoacusis with enlarged vestibular aqueduct. (18283249)
2008
16
Two common and three novel PDS mutations in Thai patients with Pendred syndrome. (18250610)
2007
17
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
18
Sensori-neural deafness and hypothyroidism: autoimmunity causing 'pseudo-Pendred syndrome'. (16582570)
2006
19
CT of the ear in Pendred syndrome. (15758191)
2005
20
Pendred syndrome: study of three families. (16482981)
2005
21
Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations. (14679580)
2004
22
A pedigree with Pendred syndrome: case report and discussion on hereditary hearing loss. (15513511)
2004
23
Enlarged endolymphatic duct and sac syndrome: relationship between MR findings and genotype of mutation in Pendred syndrome gene. (14972391)
2004
24
Loss of KCNJ10 protein expression abolishes endocochlear potential and causes deafness in Pendred syndrome mouse model. (15320950)
2004
25
Neuro-otological findings in Pendred syndrome. (12641391)
2003
26
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
27
Syndromic and non-syndromic deafness, molecular aspects of Pendred syndrome and its reported mutations. (14727345)
2003
28
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
29
Differential diagnosis between Pendred and pseudo-Pendred syndromes: clinical, radiologic, and molecular studies. (11919333)
2002
30
Phenotypes associated with replacement of His by Arg in the Pendred syndrome gene. (11720893)
2001
31
Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations. (11317356)
2001
32
Expression of pendrin and the Pendred syndrome (PDS) gene in human thyroid tissues. (10843192)
2000
33
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
34
Pendred syndrome: phenotypic variability in two families carrying the same PDS missense mutation. (10602116)
2000
35
Mutations of the Pendred syndrome gene (PDS) in patients with large vestibular aqueduct. (11603758)
2000
36
Enlarged vestibular aqueduct: a radiological marker of Pendred syndrome, and mutation of the PDS gene. (10700480)
2000
37
Prevalence, age of onset, and natural history of thyroid disease in Pendred syndrome. (10465108)
1999
38
The Pendred syndrome gene encodes a chloride-iodide transport protein. (10192399)
1999
39
Histopathological findings suggest the diagnosis in an atypical case of Pendred syndrome. (10607000)
1999
40
Identification of two different mutations in the PDS gene in an inbred family with Pendred syndrome. (10874637)
1999
41
Progressive sensorineural hearing loss and a widened vestibular aqueduct in Pendred syndrome. (9604973)
1998
42
Townes-Brocks and Pendred syndrome in the same patient. (9600745)
1998
43
Pendred syndrome--100 years of underascertainment? (9302427)
1997
44
Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). (9398842)
1997
45
The gene for Pendred syndrome is located between D7S501 and D7S692 in a 1.7-cM region on chromosome 7q. (9070918)
1997
46
Pendred syndrome: evidence for genetic homogeneity and further refinement of linkage. (9039988)
1997
47
Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4. (8630497)
1996
48
Pendred syndrome maps to chromosome 7q21-34 and is caused by an intrinsic defect in thyroid iodine organification. (8630498)
1996
49
A patient with dup(10p)del(8q) and Pendred syndrome. (3717206)
1986
50
Probable Pendred syndrome on Goodenough Island. (6937026)
1980

Variations for Pendred Syndrome

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Pendred Syndrome:

65 (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:

1 (show all 47)
id Gene Name Type Significance SNP ID Assembly Location
1NM_000441.1(SLC26A4): c.-3-2A> Gsingle nucleotide variantPathogenicrs397516411GRCh37Chr 7, 107302082: 107302082
2SLC26A4NM_000441.1(SLC26A4): c.1149+3A> Gsingle nucleotide variantPathogenicrs111033314GRCh37Chr 7, 107329648: 107329648
3SLC26A4NM_000441.1(SLC26A4): c.1198delT (p.Cys400Valfs)deletionPathogenicrs397516413GRCh37Chr 7, 107330617: 107330617
4SLC26A4NM_000441.1(SLC26A4): c.1226G> A (p.Arg409His)single nucleotide variantPathogenicrs111033305GRCh37Chr 7, 107330645: 107330645
5SLC26A4NM_000441.1(SLC26A4): c.1229C> T (p.Thr410Met)single nucleotide variantPathogenicrs111033220GRCh37Chr 7, 107330648: 107330648
6SLC26A4NM_000441.1(SLC26A4): c.1264-1G> Csingle nucleotide variantPathogenicrs111033311GRCh37Chr 7, 107334847: 107334847
7SLC26A4NM_000441.1(SLC26A4): c.1336C> T (p.Gln446Ter)single nucleotide variantPathogenicrs397516416GRCh37Chr 7, 107334920: 107334920
8SLC26A4NM_000441.1(SLC26A4): c.1341+1delGdeletionPathogenicrs397516417GRCh37Chr 7, 107334926: 107334926
9SLC26A4NM_000441.1(SLC26A4): c.1342-2_1343dupAGTCduplicationPathogenicrs111033407GRCh37Chr 7, 107335064: 107335067
10SLC26A4NM_000441.1(SLC26A4): c.1437+2T> Gsingle nucleotide variantPathogenicrs397516418GRCh37Chr 7, 107335163: 107335163
11SLC26A4NM_000441.1(SLC26A4): c.1489G> A (p.Gly497Ser)single nucleotide variantPathogenicrs111033308GRCh37Chr 7, 107336429: 107336429
12SLC26A4NM_000441.1(SLC26A4): c.1614+1G> Asingle nucleotide variantPathogenicrs111033312GRCh37Chr 7, 107338557: 107338557
13SLC26A4NM_000441.1(SLC26A4): c.164+2T> Csingle nucleotide variantPathogenicrs397516420GRCh37Chr 7, 107302252: 107302252
14SLC26A4NM_000441.1(SLC26A4): c.2015G> A (p.Gly672Glu)single nucleotide variantPathogenicrs111033309GRCh37Chr 7, 107342483: 107342483
15SLC26A4NM_000441.1(SLC26A4): c.2027T> A (p.Leu676Gln)single nucleotide variantPathogenicrs111033318GRCh37Chr 7, 107342495: 107342495
16SLC26A4NM_000441.1(SLC26A4): c.2188C> T (p.Gln730Ter)single nucleotide variantPathogenicrs397516428GRCh37Chr 7, 107350597: 107350597
17NM_000441.1(SLC26A4): c.2T> C (p.Met1Thr)single nucleotide variantPathogenicrs111033302GRCh37Chr 7, 107302088: 107302088
18NM_000441.1(SLC26A4): c.68C> A (p.Ser23Ter)single nucleotide variantPathogenicrs397516430GRCh37Chr 7, 107302154: 107302154
19SLC26A4NM_000441.1(SLC26A4): c.716T> A (p.Val239Asp)single nucleotide variantPathogenicrs111033256GRCh37Chr 7, 107315505: 107315505
20SLC26A4NM_000441.1(SLC26A4): c.765+2T> Csingle nucleotide variantPathogenicrs397516432GRCh37Chr 7, 107315556: 107315556
21SLC26A4NM_000441.1(SLC26A4): c.2000T> G (p.Phe667Cys)single nucleotide variantPathogenicrs121908360GRCh37Chr 7, 107342468: 107342468
22SLC26A4SLC26A4, 1-BP DEL, 1565GdeletionPathogenic
23SLC26A4SLC26A4, 1-BP DEL, 1421TdeletionPathogenic
24SLC26A4NM_000441.1(SLC26A4): c.1489G> A (p.Gly497Ser)single nucleotide variantPathogenicrs111033308GRCh37Chr 7, 107336429: 107336429
25SLC26A4NM_000441.1(SLC26A4): c.707T> C (p.Leu236Pro)single nucleotide variantPathogenicrs80338848GRCh37Chr 7, 107315496: 107315496
26SLC26A4NM_000441.1(SLC26A4): c.1246A> C (p.Thr416Pro)single nucleotide variantPathogenicrs28939086GRCh37Chr 7, 107330665: 107330665
27SLC26A4NM_000441.1(SLC26A4): c.1001+1G> Asingle nucleotide variantPathogenicrs80338849GRCh37Chr 7, 107323983: 107323983
28SLC26A4NM_000441.1(SLC26A4): c.1151A> G (p.Glu384Gly)single nucleotide variantPathogenicrs111033244GRCh37Chr 7, 107330570: 107330570
29SLC26A4NM_000441.1(SLC26A4): c.626G> T (p.Gly209Val)single nucleotide variantPathogenicrs111033303GRCh37Chr 7, 107315415: 107315415
30SLC26A4NM_000441.1(SLC26A4): c.2168A> G (p.His723Arg)single nucleotide variantPathogenicrs121908362GRCh37Chr 7, 107350577: 107350577
31SLC26A4NM_000441.1(SLC26A4): c.2162C> T (p.Thr721Met)single nucleotide variantPathogenicrs121908363GRCh37Chr 7, 107350571: 107350571
32SLC26A4SLC26A4, 1-BP DEL, 279TdeletionPathogenic
33SLC26A4SLC26A4, IVS4DS, A-G, +7single nucleotide variantPathogenic
34SLC26A4NM_000441.1(SLC26A4): c.1334T> G (p.Leu445Trp)single nucleotide variantPathogenicrs111033307GRCh37Chr 7, 107334918: 107334918
35SLC26A4NM_000441.1(SLC26A4): c.578C> T (p.Thr193Ile)single nucleotide variantPathogenicrs111033348GRCh37Chr 7, 107314771: 107314771
36SLC26A4SLC26A4, 1-BP DEL, 1197TdeletionPathogenic
37SLC26A4SLC26A4, 1-BP INS, 2182GinsertionPathogenic
38SLC26A4SLC26A4, IVS8, C-G, 1002-4single nucleotide variantPathogenic
39SLC26A4NM_000441.1(SLC26A4): c.397T> A (p.Ser133Thr)single nucleotide variantPathogenicrs121908365GRCh37Chr 7, 107312675: 107312675
40SLC26A4NM_000441.1(SLC26A4): c.412G> T (p.Val138Phe)single nucleotide variantPathogenicrs111033199GRCh37Chr 7, 107312690: 107312690
41SLC26A4NM_000441.1(SLC26A4): c.1588T> C (p.Tyr530His)single nucleotide variantPathogenicrs111033254GRCh37Chr 7, 107338530: 107338530
42NM_000441.1(SLC26A4): c.-103T> Csingle nucleotide variantPathogenicrs60284988GRCh37Chr 7, 107301201: 107301201
43NM_000441.1(SLC26A4): c.85G> C (p.Glu29Gln)single nucleotide variantPathogenicrs111033205GRCh37Chr 7, 107302171: 107302171
44SLC26A4NM_000441.1(SLC26A4): c.919-2A> Gsingle nucleotide variantPathogenicrs111033313GRCh37Chr 7, 107323898: 107323898
45SLC26A4NM_000441.1(SLC26A4): c.1003T> C (p.Phe335Leu)single nucleotide variantLikely pathogenic, Pathogenicrs111033212GRCh37Chr 7, 107329499: 107329499
46FOXI1NM_012188.4(FOXI1): c.800G> A (p.Arg267Gln)single nucleotide variantPathogenicrs121909341GRCh37Chr 5, 169535278: 169535278
47SLC26A4NM_000441.1(SLC26A4): c.997dupA (p.Arg333Lysfs)duplicationPathogenicrs431905486GRCh37Chr 7, 107323978: 107323979

Expression for genes affiliated with Pendred Syndrome

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Pendred Syndrome

Search GEO for disease gene expression data for Pendred Syndrome.

Pathways for genes affiliated with Pendred Syndrome

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51PathCards, 39NCBI BioSystems Database, 31KEGG, 56Reactome
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Compounds for genes affiliated with Pendred Syndrome

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46Novoseek, 25HMDB, 52PharmGKB, 12DrugBank, 3BitterDB, 30IUPHAR
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Compounds related to Pendred Syndrome according to GeneCards/GeneDecks:

(show all 34)
idCompoundScoreTop Affiliating Genes
1iodotyrosine46 2511.2TPO, TG
2diiodotyrosine4610.2TPO, TG
3Hydrogen carbonate2510.2SLC26A3, SLC26A5
4formate4610.1SLC26A5, SLC26A4, SLC26A2
5liothyronine52 25 1212.0TPO, DIO2
6gliadin4610.0TG, TPO
7chromium4610.0TG, TPO
8propylthiouracil46 3 1211.9DIO2, TG, TPO
9perchlorate469.9TPO, TG, DUOX2, SLC26A4
10125i469.9DIO2, TG, TPO
11methimazole46 3 1211.9DIO2, TG, TPO
12selenium46 2510.8DIO2, TG, TPO
13amiodarone46 52 30 1212.8TPO, TG
14chlorine46 2510.8SLC12A3, SLC26A3, SLC26A4, SLC26A5
15oxalate469.8SLC26A5, SLC4A1, SLC26A4, SLC26A2
16triiodothyronine469.7TPO, TG, DIO2, SLC26A4
17sodium iodide469.6TPO, TG, PAX8, DUOX2, SLC26A4
18forskolin46 52 1211.6TPO, PAX8, DIO2, GJB2
19guanine46 25 1211.6SLC12A3, GJB2, TG
20ribonucleic acid469.6TPO, TG, PAX8, DIO2
21iodine46 2510.6SLC26A4, DIO2, DUOX2, TG, TPO
22bicarbonate469.5SLC26A2, SLC26A3, SLC26A4, SLC4A1, SLC26A5
23sulfate46 2510.5SLC26A2, SLC26A3, SLC26A4, SLC4A1, SLC26A5
24thyroxine46 2510.5TPO, TG, PAX8, DIO2, SLC26A4
25potassium46 25 1211.4SLC4A1, SLC12A3, GJB2, TPO
26nacl469.4SLC26A4, SLC26A3, SLC12A3
27cycloheximide469.2DIO2, PAX3, TG, TPO
28sodium46 259.9TPO, TG, PAX8, DUOX2, SLC12A3, SLC26A4
29iodide46 259.8SLC26A5, TPO, TG, PAX8, DUOX2, DIO2
30chloride468.7TPO, GJB2, SLC26A2, SLC12A3, SLC26A3, SLC26A4
31cysteine468.5TPO, TG, PAX3, DIO2, COL4A5, SLC26A2
32serine468.3PTPRJ, TG, PAX8, DIO2, COL4A5, SLC12A3
33calcium46 52 25 1210.5PTPRJ, TPO, DUOX2, DIO2, MITF, GJB2
34tyrosine467.0PTPRJ, TPO, TG, PAX3, DIO2, MITF

GO Terms for genes affiliated with Pendred Syndrome

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Sources:
17Gene Ontology
See all sources

Cellular components related to Pendred Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1basolateral plasma membraneGO:0163239.6SLC4A1, SLC26A5, KCNJ10
2apical plasma membraneGO:0163249.2DUOX2, SLC12A3, SLC26A3, SLC26A4, KCNJ10
3integral component of plasma membraneGO:0058877.7TPO, TRPV6, SLC12A3, SLC26A2, SLC4A1, KCNJ10
4plasma membraneGO:0058866.2TRPV6, KCNJ10, PTPRJ, TPO, DIO2, GJB2

Biological processes related to Pendred Syndrome according to GeneCards/GeneDecks:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1sulfate transmembrane transportGO:190235810.2SLC26A4, SLC26A2
2sulfate transportGO:00827210.2SLC26A4, SLC26A2
3membrane hyperpolarizationGO:06008110.1KCNJ10, SLC26A3
4thyroid gland developmentGO:0308789.9DUOX2, PAX8, TG
5hydrogen peroxide catabolic processGO:0427449.9DUOX2, TPO
6anion transportGO:0068209.8SLC4A1, SLC26A3
7chloride transportGO:0068219.7SLC4A1, SLC12A3
8hormone biosynthetic processGO:0424469.6DIO2, DUOX2, TG, TPO
9thyroid hormone generationGO:0065909.6TPO, TG, DUOX2, DIO2
10sensory perception of soundGO:0076059.6PAX3, GJB2, SLC26A4, SLC26A5
11chloride transmembrane transportGO:19024769.6SLC12A3, SLC26A3, SLC26A4, SLC4A1
12ion transportGO:0068119.3SLC26A2, SLC12A3, SLC26A3, SLC26A4, SLC4A1
13transmembrane transportGO:0550858.8SLC26A2, SLC12A3, SLC26A3, SLC26A4, SLC4A1, TRPV6
14positive regulation of transcription, DNA-templatedGO:0458938.1PAX3, PAX8, MITF, BAMBI

Molecular functions related to Pendred Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1peroxidase activityGO:00460110.0DUOX2, TPO
2sulfate transmembrane transporter activityGO:01511610.0SLC26A4, SLC26A2
3chloride transmembrane transporter activityGO:0151089.7SLC26A3, SLC26A4, SLC4A1
4secondary active sulfate transmembrane transporter activityGO:0082719.6SLC26A5, SLC26A4, SLC26A3, SLC26A2
5anion:anion antiporter activityGO:0153019.5SLC4A1, SLC26A3

Products for genes affiliated with Pendred Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Pendred Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet