PDS
MCID: PND002
MIFTS: 71

Pendred Syndrome (PDS) malady

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

Summaries for Pendred Syndrome

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NIH Rare Diseases:42 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. pendred syndrome is inherited in an autosomal recessive pattern. last updated: 7/26/2011

MalaCards based summary: Pendred Syndrome, also known as goiter-deafness syndrome, is related to enlarged vestibular aqueduct and thyroiditis, and has symptoms including sensorineural hearing impairment, hypothyroidism and goiter. An important gene associated with Pendred Syndrome is SLC26A4 (solute carrier family 26 (anion exchanger), member 4), and among its related pathways are Thyroxine (Thyroid Hormone) Production and Insulin secretion. 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.

OMIM:46 Pendred syndrome, the most common syndromal form of deafness, is an autosomal recessive disorder associated with... (274600) more...

Wikipedia:64 Pendred syndrome or Pendred disease is a genetic disorder leading to congenital bilateral (both sides)... more...

Aliases & Classifications for Pendred Syndrome

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Sources:
64Wikipedia, 42NIH Rare Diseases, 23GTR, 22Genetics Home Reference, 46OMIM, 44Novoseek, 48Orphanet, 61UMLS, 62UMLS via Orphanet, 35MESH via Orphanet, 27ICD10 via Orphanet
See all sources

Pendred Syndrome, Aliases & Descriptions:

Name: Pendred Syndrome 64 42 23 22 46 44 48
Goiter-Deafness Syndrome 64 42 22 61
Deafness with Goiter 64 42 22
Autosomal Recessive Sensorineural Hearing Impairment and Goiter 64 22
 
Pendred's Syndrome 22 61
Complete Hearing Loss 61
Goiter - Deafness 48
Pds 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
pendred syndrome:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy; Age of death: Normal


External Ids:

UMLS via Orphanet62 C0271829
OMIM46 274600
MESH via Orphanet35 C536648
ICD10 via Orphanet27 E07.1

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/GeneDecks gene sharing:

(show top 50)    (show all 133)
idRelated DiseaseScoreTop Affiliating Genes
1enlarged vestibular aqueduct31.4GJB2, SLC26A4
2thyroiditis31.3TPO, TG
3goiter30.9TPO, TG, PAX8, DIO2, SLC26A4
4hypothyroidism30.9TPO, TG, SLC26A4
5autoimmune thyroiditis30.6TPO, TG
6nonsyndromic deafness30.5SLC26A5, SLC26A4, GJB2, FOXI1
7papillary thyroid carcinoma30.5PAX8, TG, TPO
8congenital hypothyroidism30.4TPO, TG, PAX8, DUOX2
9sensorineural hearing loss30.3TPO, MITF, COL4A5, GJB2, SLC26A4
10osteoporosis29.9SLC12A3, SLC26A2, MITF
11melanoma29.2PAX3, MITF, GJB2, BAMBI, SLC4A1
12pendred syndrome/dfnb410.6SLC26A4
13parkinson's disease10.6
14pancreas disease10.4
15atelosteogenesis10.4SLC26A5, SLC26A2
16peritonitis10.4
17endotheliitis10.4
18thyrotoxicosis10.4TG, TPO
19achondrogenesis10.4SLC26A2, SLC26A5
20subacute thyroiditis10.4TPO, TG
21pernicious anemia10.4TPO, TG
22toxic diffuse goiter10.4TG, TPO
23endemic goiter10.4TPO, TG
24nontoxic goiter10.4TPO, TG
25plummer's disease10.3TPO, TG
26thyroid agenesis10.3TG, PAX8
27thyrotropin deficiency, isolated10.3TPO, TG
28myxedema10.3TPO, TG
29multinodular goiter10.3TPO, TG, SLC26A4
30nodular goiter10.3TPO, TG
31diastrophic dysplasia10.3SLC26A2, SLC26A3, SLC26A4, SLC26A5
32pyridoxine-dependent epilepsy10.2
33prolidase deficiency10.2
34renal tubular acidosis10.2SLC4A1, SLC26A4, FOXI1
35foxi1-related pendred syndrome10.2
36kcnj10-related pendred syndrome10.2
37slc26a4-related pendred syndrome10.2
38thyroid adenoma10.2TPO, TG, DIO2
39turner syndrome10.2TG, TPO
40thyroid cancer, anaplastic10.2TPO, TG, PAX8, SLC26A4
41rem sleep behavior disorder10.2
42neuronitis10.2
43cervicitis10.2
44tremor10.2
45papillary carcinoma10.2SLC26A4, PAX8, TG, TPO
46thyroid hurthle cell carcinoma10.2SLC26A4, PAX8, TG, TPO
47hyperthyroidism10.2DIO2, TG, TPO
48multiple system atrophy10.1
49dementia10.1
50follicular thyroid carcinoma10.1DIO2, PAX8, TG, 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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Symptoms by clinical synopsis from OMIM:

274600

Clinical features from OMIM:

274600

Symptoms:

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

HPO human phenotypes related to Pendred Syndrome:

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

Drugs & Therapeutics for Pendred Syndrome

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Drug clinical trials:

Search ClinicalTrials for Pendred Syndrome

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 Syndrome23

Anatomical Context for Pendred Syndrome

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MalaCards organs/tissues related to Pendred Syndrome:

32
Thyroid, Lung

Animal Models for Pendred Syndrome or affiliated genes

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Publications for Pendred Syndrome

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Articles related to Pendred Syndrome:

(show top 50)    (show all 118)
idTitleAuthorsYear
1
Goiter and hearing impairment: A case of a male patient with Pendred syndrome. (25295090)
2014
2
Identification of a founder mutation for Pendred syndrome in families from northwest Iran. (25239229)
2014
3
Pathogenic substitution of IVS15 + 5G > A in SLC26A4 in patients of Okinawa Islands with enlarged vestibular aqueduct syndrome or Pendred syndrome. (23705809)
2013
4
A Novel mutation in the SLC26A4 gene in a Chinese family with Pendred syndrome. (23838540)
2013
5
Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in Pendred syndrome/enlarged vestibular aqueducts. (23965030)
2013
6
A novel insertion-induced frameshift mutation of the SLC26A4 gene in a Korean family with Pendred syndrome. (22884721)
2012
7
Cochlear implantation in Pendred syndrome. (21917203)
2011
8
An unfortunate case of Pendred syndrome. (21745434)
2011
9
Life-threatening metabolic alkalosis in Pendred syndrome. (21551164)
2011
10
Genetics and phenomics of Pendred syndrome. (20298745)
2010
11
A patient with Pendred syndrome whose goiter progressed with normal serum thyrotropin and iodine organification. (20583162)
2010
12
Pendred syndrome in two Galician families: insights into clinical phenotypes through cellular, genetic, and molecular studies. (17940114)
2008
13
Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA. (19017801)
2008
14
Thyroidectomy in a patient with multinodular dyshormonogenetic goitre--a case of Pendred syndrome confirmed by mutations in the PDS/SLC26A4 gene. (19189692)
2008
15
Profound hypokalemia and hypochloremic metabolic alkalosis during thiazide therapy in a child with Pendred syndrome. (18538122)
2008
16
Free radical stress-mediated loss of Kcnj10 protein expression in stria vascularis contributes to deafness in Pendred syndrome mouse model. (17959752)
2008
17
Phenotypes of SLC26A4 gene mutations: Pendred syndrome and hypoacusis with enlarged vestibular aqueduct. (18283249)
2008
18
Two common and three novel PDS mutations in Thai patients with Pendred syndrome. (18250610)
2007
19
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
20
Sensori-neural deafness and hypothyroidism: autoimmunity causing 'pseudo-Pendred syndrome'. (16582570)
2006
21
CT of the ear in Pendred syndrome. (15758191)
2005
22
Pendred syndrome: study of three families. (16482981)
2005
23
Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations. (14679580)
2004
24
A pedigree with Pendred syndrome: case report and discussion on hereditary hearing loss. (15513511)
2004
25
Enlarged endolymphatic duct and sac syndrome: relationship between MR findings and genotype of mutation in Pendred syndrome gene. (14972391)
2004
26
Loss of KCNJ10 protein expression abolishes endocochlear potential and causes deafness in Pendred syndrome mouse model. (15320950)
2004
27
Neuro-otological findings in Pendred syndrome. (12641391)
2003
28
Solitary thyroid nodule as presenting symptom of Pendred syndrome caused by a novel splice-site mutation in intron 8 of the SLC26A4 gene. (12920581)
2003
29
Mutations of the PDS gene, encoding pendrin, are associated with protein mislocalization and loss of iodide efflux: implications for thyroid dysfunction in Pendred syndrome. (11932316)
2002
30
Differential diagnosis between Pendred and pseudo-Pendred syndromes: clinical, radiologic, and molecular studies. (11919333)
2002
31
Phenotypes associated with replacement of His by Arg in the Pendred syndrome gene. (11720893)
2001
32
Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations. (11317356)
2001
33
Expression of pendrin and the Pendred syndrome (PDS) gene in human thyroid tissues. (10843192)
2000
34
Pendrin, the protein encoded by the Pendred syndrome gene (PDS), is an apical porter of iodide in the thyroid and is regulated by thyroglobulin in FRTL-5 cells. (10650967)
2000
35
Pendred syndrome: phenotypic variability in two families carrying the same PDS missense mutation. (10602116)
2000
36
Mutations of the Pendred syndrome gene (PDS) in patients with large vestibular aqueduct. (11603758)
2000
37
Prevalence, age of onset, and natural history of thyroid disease in Pendred syndrome. (10465108)
1999
38
The Pendred syndrome gene encodes a chloride-iodide transport protein. (10192399)
1999
39
Histopathological findings suggest the diagnosis in an atypical case of Pendred syndrome. (10607000)
1999
40
Identification of two different mutations in the PDS gene in an inbred family with Pendred syndrome. (10874637)
1999
41
Progressive sensorineural hearing loss and a widened vestibular aqueduct in Pendred syndrome. (9604973)
1998
42
Townes-Brocks and Pendred syndrome in the same patient. (9600745)
1998
43
Pendred syndrome--100 years of underascertainment? (9302427)
1997
44
Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). (9398842)
1997
45
The gene for Pendred syndrome is located between D7S501 and D7S692 in a 1.7-cM region on chromosome 7q. (9070918)
1997
46
Pendred syndrome: evidence for genetic homogeneity and further refinement of linkage. (9039988)
1997
47
Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4. (8630497)
1996
48
Pendred syndrome maps to chromosome 7q21-34 and is caused by an intrinsic defect in thyroid iodine organification. (8630498)
1996
49
A patient with dup(10p)del(8q) and Pendred syndrome. (3717206)
1986
50
Probable Pendred syndrome on Goodenough Island. (6937026)
1980

Variations for Pendred Syndrome

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

63 (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:

7 (show all 64)
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.1204G> A (p.Val402Met)single nucleotide variantLikely pathogenicrs397516414GRCh37Chr 7, 107330623: 107330623
5SLC26A4NM_000441.1(SLC26A4): c.1226G> A (p.Arg409His)single nucleotide variantPathogenicrs111033305GRCh37Chr 7, 107330645: 107330645
6SLC26A4NM_000441.1(SLC26A4): c.1226G> C (p.Arg409Pro)single nucleotide variantLikely pathogenicrs111033305GRCh37Chr 7, 107330645: 107330645
7SLC26A4NM_000441.1(SLC26A4): c.1229C> T (p.Thr410Met)single nucleotide variantPathogenicrs111033220GRCh37Chr 7, 107330648: 107330648
8SLC26A4NM_000441.1(SLC26A4): c.1264-1G> Csingle nucleotide variantPathogenicrs111033311GRCh37Chr 7, 107334847: 107334847
9SLC26A4NM_000441.1(SLC26A4): c.1284_1286delTGC (p.Ala429del)deletionLikely pathogenicrs111033306GRCh37Chr 7, 107334868: 107334870
10SLC26A4NM_000441.1(SLC26A4): c.1336C> T (p.Gln446Ter)single nucleotide variantPathogenicrs397516416GRCh37Chr 7, 107334920: 107334920
11SLC26A4NM_000441.1(SLC26A4): c.1341+1delGdeletionPathogenicrs397516417GRCh37Chr 7, 107334926: 107334926
12SLC26A4NM_000441.1(SLC26A4): c.1342-2_1343dupAGTCduplicationPathogenicrs111033407GRCh37Chr 7, 107335064: 107335067
13SLC26A4NM_000441.1(SLC26A4): c.1437+2T> Gsingle nucleotide variantPathogenicrs397516418GRCh37Chr 7, 107335163: 107335163
14SLC26A4NM_000441.1(SLC26A4): c.1489G> A (p.Gly497Ser)single nucleotide variantPathogenicrs111033308GRCh37Chr 7, 107336429: 107336429
15SLC26A4NM_000441.1(SLC26A4): c.1541A> G (p.Gln514Arg)single nucleotide variantLikely pathogenicrs111033316GRCh37Chr 7, 107336481: 107336481
16SLC26A4NM_000441.1(SLC26A4): c.1548_1549insC (p.Ser517Leufs)insertionLikely pathogenicrs111033317GRCh37Chr 7, 107338490: 107338491
17SLC26A4NM_000441.1(SLC26A4): c.1614+1G> Asingle nucleotide variantPathogenicrs111033312GRCh37Chr 7, 107338557: 107338557
18SLC26A4NM_000441.1(SLC26A4): c.164+2T> Csingle nucleotide variantPathogenicrs397516420GRCh37Chr 7, 107302252: 107302252
19SLC26A4NM_000441.1(SLC26A4): c.1694G> A (p.Cys565Tyr)single nucleotide variantLikely pathogenicrs111033257GRCh37Chr 7, 107340607: 107340607
20SLC26A4NM_000441.1(SLC26A4): c.1708G> A (p.Val570Ile)single nucleotide variantLikely pathogenicrs397516421GRCh37Chr 7, 107341546: 107341546
21SLC26A4NM_000441.1(SLC26A4): c.170C> G (p.Ser57Ter)single nucleotide variantLikely pathogenicrs111033200GRCh37Chr 7, 107303746: 107303746
22SLC26A4NM_000441.1(SLC26A4): c.1963A> G (p.Ile655Val)single nucleotide variantLikely pathogenicrs397516424GRCh37Chr 7, 107342431: 107342431
23SLC26A4NM_000441.1(SLC26A4): c.2015G> A (p.Gly672Glu)single nucleotide variantPathogenicrs111033309GRCh37Chr 7, 107342483: 107342483
24SLC26A4NM_000441.1(SLC26A4): c.2027T> A (p.Leu676Gln)single nucleotide variantPathogenicrs111033318GRCh37Chr 7, 107342495: 107342495
25SLC26A4NM_000441.1(SLC26A4): c.2145G> T (p.Lys715Asn)single nucleotide variantLikely pathogenicrs397516427GRCh37Chr 7, 107350554: 107350554
26SLC26A4NM_000441.1(SLC26A4): c.2188C> T (p.Gln730Ter)single nucleotide variantPathogenicrs397516428GRCh37Chr 7, 107350597: 107350597
27SLC26A4NM_000441.1(SLC26A4): c.294_298delCACGC (p.Thr99Alafs)deletionLikely pathogenicrs111033241GRCh37Chr 7, 107303870: 107303874
28NM_000441.1(SLC26A4): c.2T> C (p.Met1Thr)single nucleotide variantPathogenicrs111033302GRCh37Chr 7, 107302088: 107302088
29SLC26A4NM_000441.1(SLC26A4): c.349C> T (p.Leu117Phe)single nucleotide variantLikely pathogenicrs145254330GRCh37Chr 7, 107312627: 107312627
30SLC26A4NM_000441.1(SLC26A4): c.397_398delTCinsA (p.Ser133Lysfs)indelLikely pathogenicrs111033400GRCh37Chr 7, 107312675: 107312676
31SLC26A4NM_000441.1(SLC26A4): c.589G> A (p.Gly197Arg)single nucleotide variantLikely pathogenicrs111033380GRCh37Chr 7, 107314782: 107314782
32NM_000441.1(SLC26A4): c.68C> A (p.Ser23Ter)single nucleotide variantPathogenicrs397516430GRCh37Chr 7, 107302154: 107302154
33SLC26A4NM_000441.1(SLC26A4): c.716T> A (p.Val239Asp)single nucleotide variantPathogenicrs111033256GRCh37Chr 7, 107315505: 107315505
34SLC26A4NM_000441.1(SLC26A4): c.765+2T> Csingle nucleotide variantPathogenicrs397516432GRCh37Chr 7, 107315556: 107315556
35SLC26A4NM_000441.1(SLC26A4): c.845G> A (p.Cys282Tyr)single nucleotide variantLikely pathogenicrs111033454GRCh37Chr 7, 107323726: 107323726
36NM_000441.1(SLC26A4): c.85G> T (p.Glu29Ter)single nucleotide variantLikely pathogenicrs111033205GRCh37Chr 7, 107302171: 107302171
37SLC26A4NM_000441.1(SLC26A4): c.918+1G> Tsingle nucleotide variantLikely pathogenicrs111033245GRCh37Chr 7, 107323800: 107323800
38SLC26A4NM_000441.1(SLC26A4): c.2000T> G (p.Phe667Cys)single nucleotide variantPathogenicrs121908360GRCh37Chr 7, 107342468: 107342468
39SLC26A4SLC26A4, 1-BP DEL, 1565GdeletionPathogenic
40SLC26A4SLC26A4, 1-BP DEL, 1421TdeletionPathogenic
41SLC26A4NM_000441.1(SLC26A4): c.1489G> A (p.Gly497Ser)single nucleotide variantPathogenicrs111033308GRCh37Chr 7, 107336429: 107336429
42SLC26A4NM_000441.1(SLC26A4): c.707T> C (p.Leu236Pro)single nucleotide variantPathogenicrs80338848GRCh37Chr 7, 107315496: 107315496
43SLC26A4NM_000441.1(SLC26A4): c.1246A> C (p.Thr416Pro)single nucleotide variantPathogenicrs28939086GRCh37Chr 7, 107330665: 107330665
44SLC26A4NM_000441.1(SLC26A4): c.1001+1G> Asingle nucleotide variantPathogenicrs80338849GRCh37Chr 7, 107323983: 107323983
45SLC26A4NM_000441.1(SLC26A4): c.1151A> G (p.Glu384Gly)single nucleotide variantPathogenicrs111033244GRCh37Chr 7, 107330570: 107330570
46SLC26A4NM_000441.1(SLC26A4): c.626G> T (p.Gly209Val)single nucleotide variantPathogenicrs111033303GRCh37Chr 7, 107315415: 107315415
47SLC26A4NM_000441.1(SLC26A4): c.2168A> G (p.His723Arg)single nucleotide variantPathogenicrs121908362GRCh37Chr 7, 107350577: 107350577
48SLC26A4NM_000441.1(SLC26A4): c.2162C> T (p.Thr721Met)single nucleotide variantPathogenicrs121908363GRCh37Chr 7, 107350571: 107350571
49SLC26A4SLC26A4, 1-BP DEL, 279TdeletionPathogenic
50SLC26A4SLC26A4, IVS4DS, A-G, +7single nucleotide variantPathogenic
51SLC26A4NM_000441.1(SLC26A4): c.1334T> G (p.Leu445Trp)single nucleotide variantPathogenicrs111033307GRCh37Chr 7, 107334918: 107334918
52SLC26A4NM_000441.1(SLC26A4): c.578C> T (p.Thr193Ile)single nucleotide variantPathogenicrs111033348GRCh37Chr 7, 107314771: 107314771
53SLC26A4SLC26A4, 1-BP DEL, 1197TdeletionPathogenic
54SLC26A4SLC26A4, 1-BP INS, 2182GinsertionPathogenic
55SLC26A4SLC26A4, IVS8, C-G, 1002-4single nucleotide variantPathogenic
56SLC26A4NM_000441.1(SLC26A4): c.397T> A (p.Ser133Thr)single nucleotide variantPathogenicrs121908365GRCh37Chr 7, 107312675: 107312675
57SLC26A4NM_000441.1(SLC26A4): c.412G> T (p.Val138Phe)single nucleotide variantPathogenicrs111033199GRCh37Chr 7, 107312690: 107312690
58SLC26A4NM_000441.1(SLC26A4): c.1588T> C (p.Tyr530His)single nucleotide variantPathogenicrs111033254GRCh37Chr 7, 107338530: 107338530
59NM_000441.1(SLC26A4): c.-103T> Csingle nucleotide variantPathogenicrs60284988GRCh37Chr 7, 107301201: 107301201
60NM_000441.1(SLC26A4): c.85G> C (p.Glu29Gln)single nucleotide variantPathogenicrs111033205GRCh37Chr 7, 107302171: 107302171
61SLC26A4NM_000441.1(SLC26A4): c.919-2A> Gsingle nucleotide variantPathogenicrs111033313GRCh37Chr 7, 107323898: 107323898
62SLC26A4NM_000441.1(SLC26A4): c.1003T> C (p.Phe335Leu)single nucleotide variantLikely pathogenic, Pathogenicrs111033212GRCh37Chr 7, 107329499: 107329499
63FOXI1NM_012188.4(FOXI1): c.800G> A (p.Arg267Gln)single nucleotide variantPathogenicrs121909341GRCh37Chr 5, 169535278: 169535278
64SLC26A4NM_000441.1(SLC26A4): c.997dupA (p.Arg333Lysfs)duplicationPathogenicrs431905486GRCh37Chr 7, 107323978: 107323979

Expression for genes affiliated with Pendred Syndrome

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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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Compounds for genes affiliated with Pendred Syndrome

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Sources:
44Novoseek, 25HMDB, 50PharmGKB, 12DrugBank, 3BitterDB, 29IUPHAR
See all sources

Compounds related to Pendred Syndrome according to GeneCards/GeneDecks:

(show all 34)
idCompoundScoreTop Affiliating Genes
1iodotyrosine44 2511.2TPO, TG
2diiodotyrosine4410.2TPO, TG
3Hydrogen carbonate2510.2SLC26A3, SLC26A5
4formate4410.1SLC26A5, SLC26A4, SLC26A2
5liothyronine50 25 1212.0TPO, DIO2
6gliadin4410.0TG, TPO
7chromium4410.0TG, TPO
8propylthiouracil44 3 1211.9DIO2, TG, TPO
9perchlorate449.9TPO, TG, DUOX2, SLC26A4
10125i449.9DIO2, TG, TPO
11methimazole44 3 1211.9DIO2, TG, TPO
12selenium44 2510.8DIO2, TG, TPO
13amiodarone44 50 29 1212.8TPO, TG
14chlorine44 2510.8SLC12A3, SLC26A3, SLC26A4, SLC26A5
15oxalate449.8SLC26A5, SLC4A1, SLC26A4, SLC26A2
16triiodothyronine449.7TPO, TG, DIO2, SLC26A4
17sodium iodide449.6TPO, TG, PAX8, DUOX2, SLC26A4
18forskolin44 50 1211.6TPO, PAX8, DIO2, GJB2
19guanine44 25 1211.6SLC12A3, GJB2, TG
20ribonucleic acid449.6TPO, TG, PAX8, DIO2
21iodine44 2510.6SLC26A4, DIO2, DUOX2, TG, TPO
22bicarbonate449.5SLC26A2, SLC26A3, SLC26A4, SLC4A1, SLC26A5
23sulfate44 2510.5SLC26A2, SLC26A3, SLC26A4, SLC4A1, SLC26A5
24thyroxine44 2510.5TPO, TG, PAX8, DIO2, SLC26A4
25potassium44 25 1211.4SLC4A1, SLC12A3, GJB2, TPO
26nacl449.4SLC26A4, SLC26A3, SLC12A3
27cycloheximide449.2DIO2, PAX3, TG, TPO
28sodium44 259.9TPO, TG, PAX8, DUOX2, SLC12A3, SLC26A4
29iodide44 259.8SLC26A5, TPO, TG, PAX8, DUOX2, DIO2
30chloride448.7TPO, GJB2, SLC26A2, SLC12A3, SLC26A3, SLC26A4
31cysteine448.5TPO, TG, PAX3, DIO2, COL4A5, SLC26A2
32serine448.3PTPRJ, TG, PAX8, DIO2, COL4A5, SLC12A3
33calcium44 50 25 1210.5PTPRJ, TPO, DUOX2, DIO2, MITF, GJB2
34tyrosine447.0PTPRJ, TPO, TG, PAX3, DIO2, MITF

GO Terms for genes affiliated with Pendred Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1basolateral plasma membraneGO:0163239.6SLC26A5, SLC4A1, KCNJ10
2apical plasma membraneGO:0163249.2KCNJ10, DUOX2, SLC12A3, SLC26A3, SLC26A4
3integral component of plasma membraneGO:0058877.7KCNJ10, PTPRJ, TPO, SLC26A2, SLC12A3, SLC4A1
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
  • Proteins
  • Kits and Assays

Sources for Pendred Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet