PDS
MCID: PND002
MIFTS: 72

Pendred Syndrome (PDS) malady

Ear diseases, Endocrine diseases, Fetal diseases categories

Summaries for Pendred Syndrome

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42NIH Rare Diseases, 21Genetics Home Reference, 63Wikipedia, 46OMIM, 32MalaCards
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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: 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, intellectual deficit/mental/psychomotor retardation/learning disability and speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia. An important gene associated with Pendred Syndrome is SLC26A4 (solute carrier family 26 (anion exchanger), member 4), and among its related pathways are Insulin secretion and Regulation of thyroid hormone activity. 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 hearing/vestibular/ear and no phenotypic analysis.

Genetics Home Reference:21 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:63 Pendred syndrome or Pendred disease is a genetic disorder leading to congenital bilateral (both sides)... more...

Description from OMIM:46 274600

Aliases & Classifications for Pendred Syndrome

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Sources:
63Wikipedia, 42NIH Rare Diseases, 22GTR, 21Genetics Home Reference, 46OMIM, 44Novoseek, 48Orphanet, 60UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases
Anatomical: Ear diseases, Endocrine diseases


Characteristics (Orphanet epidemiological data):

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


Aliases & Descriptions:

pendred syndrome 63 42 22 21 46 44 48
goiter-deafness syndrome 63 42 21
deafness with goiter 63 42 21
autosomal recessive sensorineural hearing impairment and goiter 63 21
pendred's syndrome 21 60
complete hearing loss 60
goiter - deafness 48
pds 42


External Ids:

OMIM46 274600
MESH via Orphanet35 C536648
ICD10 via Orphanet26 E07.1
SNOMED-CT via Orphanet57 70348004
UMLS via Orphanet61 C0271829

Related Diseases for Pendred Syndrome

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Sources:
17GeneCards, 18GeneDecks
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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 143)
idRelated DiseaseScoreTop Affiliating Genes
1thyroiditis30.9TG, TPO
2enlarged vestibular aqueduct30.8SLC26A4, GJB2
3goiter30.7DIO2, SLC26A4, PAX8, TPO, TG
4hypothyroidism30.4TG, TPO, SLC26A4
5sensorineural hearing loss30.3COL4A5, MITF, GJB2, SLC26A4, TPO
6congenital hypothyroidism30.2TG, TPO, PAX8, DUOX2
7hypokalemia30.0SLC12A3
8autoimmune thyroiditis30.0TPO, TG
9nonsyndromic deafness30.0FOXI1, GJB2, SLC26A5, SLC26A4
10papillary carcinoma30.0SLC26A4, PAX8, TPO, TG
11papillary thyroid carcinoma30.0PAX8, TPO, TG
12follicular thyroid carcinoma30.0DIO2, PAX8, TPO, TG
13osteoporosis29.7SLC26A2, SLC12A3, MITF
14parkinson's disease10.5
15peritonitis10.3
16pancreas disease10.3
17paroxysmal dyskinesia10.3
18pyridoxine-dependent epilepsy10.2
19prolidase deficiency10.2
20thyroid hormone resistance syndrome10.2
21foxi1-related pendred syndrome10.2
22kcnj10-related pendred syndrome10.2
23slc26a4-related pendred syndrome10.2
24rem sleep behavior disorder10.1
25neuronitis10.1
26cervicitis10.1
27sleep disorder10.1
28dementia10.1
29multiple system atrophy10.1
30x-linked nonsyndromic deafness10.0
31congenital deafness with labyrinthine aplasia, microtia, and microdontia10.0
32otof-related deafness10.0
33deafness with labyrinthine aplasia microtia and microdontia10.0
34dfnb110.0
35deafness, x-linked 210.0
36keratoderma palmoplantar deafness10.0
37familial deafness10.0
38renal tubular acidosis with deafness10.0
39deafness, autosomal recessive 9810.0
40deafness, x-linked 410.0
41deafness, x-linked 310.0
42deafness, x-linked 110.0
43deafness, x-linked 510.0
44deafness, y-linked 110.0
45rare deafness10.0
46adult syndrome10.0
47asthma10.0
48corneal ulcer10.0
49hypertension10.0
50essential tremor10.0

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



Diseases related to pendred syndrome

Clinical Features for Pendred Syndrome

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46OMIM, 48Orphanet
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Clinical features from OMIM:

274600

Clinical synopsis from OMIM:

274600

Symptoms:

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

Drugs & Therapeutics for Pendred Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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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22GTR
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Genetic tests related to Pendred Syndrome:

id Genetic test Affiliating Genes
1 Pendred's Syndrome22

Anatomical Context for Pendred Syndrome

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32MalaCards
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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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36MGI
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Publications for Pendred Syndrome

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50PubMed
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Articles related to Pendred Syndrome:

(show top 50)    (show all 115)
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
Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in Pendred syndrome/enlarged vestibular aqueducts. (23965030)
2013
3
Pendred syndrome with retrosternal goitre- a rare case report. (24426607)
2013
4
Papillary thyroid carcinoma in one of identical twin patients with Pendred syndrome. (23459462)
2013
5
A novel insertion-induced frameshift mutation of the SLC26A4 gene in a Korean family with Pendred syndrome. (22884721)
2012
6
Cochlear implantation in Pendred syndrome. (21917203)
2011
7
An unfortunate case of Pendred syndrome. (21745434)
2011
8
Novel splice-site mutation c.1615-2A>G (IVS14-2A>G) in the SLC26A4 gene causing Pendred syndrome in a consanguineous Portuguese family. (21416585)
2011
9
Clinical and molecular characteristics of Pendred syndrome. (21511235)
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
Phenotypic analyses and mutation screening of the SLC26A4 and FOXI1 genes in 101 Taiwanese families with bilateral nonsyndromic enlarged vestibular aqueduct (DFNB4) or Pendred syndrome. (19648736)
2010
13
Functional characterization of wild-type and mutated pendrin (SLC26A4), the anion transporter involved in Pendred syndrome. (19608655)
2009
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
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
Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4). (17503324)
2007
21
Comparison of MRI findings with traditional criteria in diagnosis of Pendred syndrome. (17365057)
2007
22
Analysis of the SLC26A4 gene in patients with Pendred syndrome in Taiwan. (17697873)
2007
23
High phenotypic intrafamilial variability in patients with Pendred syndrome and a novel duplication in the SLC26A4 gene: clinical characterization and functional studies of the mutated SLC26A4 protein. (17766716)
2007
24
Localized attachment loss in Pendred syndrome: incidental? (17470031)
2007
25
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
26
Sensori-neural deafness and hypothyroidism: autoimmunity causing 'pseudo-Pendred syndrome'. (16582570)
2006
27
The H723R mutation in the PDS/SLC26A4 gene is associated with typical Pendred syndrome in Korean patients. (17322586)
2006
28
Macrophage invasion contributes to degeneration of stria vascularis in Pendred syndrome mouse model. (17187680)
2006
29
SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities. (15689455)
2005
30
A pedigree with Pendred syndrome: case report and discussion on hereditary hearing loss. (15513511)
2004
31
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
32
Pendred syndrome. (16444159)
2003
33
Screening the SLC26A4 gene in probands with deafness and goiter (Pendred syndrome) ascertained from a large group of students of the schools for the deaf in Turkey. (12974744)
2003
34
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
35
Retention of pendrin in the endoplasmic reticulum is a major mechanism for Pendred syndrome. (12354788)
2002
36
Expression of PDS/Pds, the Pendred syndrome gene, in endometrium. (11836344)
2002
37
Phenotypes associated with replacement of His by Arg in the Pendred syndrome gene. (11720893)
2001
38
Targeted disruption of mouse Pds provides insight about the inner-ear defects encountered in Pendred syndrome. (11152663)
2001
39
Long-term audiological feature in Pendred syndrome caused by PDS mutation. (11405873)
2001
40
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
41
Pendred syndrome: phenotypic variability in two families carrying the same PDS missense mutation. (10602116)
2000
42
Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4). (10861298)
2000
43
Expression of Na+/I- symporter and Pendred syndrome genes in trophoblast cells. (11095481)
2000
44
Identification of two different mutations in the PDS gene in an inbred family with Pendred syndrome. (10874637)
1999
45
Sulfate transport is not impaired in pendred syndrome thyrocytes. (10404839)
1999
46
Progressive sensorineural hearing loss and a widened vestibular aqueduct in Pendred syndrome. (9604973)
1998
47
Further refinement of Pendred syndrome locus by homozygosity analysis to a 0.8 cM interval flanked by D7S496 and D7S2425. (9541103)
1998
48
Pendred syndrome. (9004139)
1996
49
Probable Pendred syndrome on Goodenough Island. (6937026)
1980
50
Pendred syndrome (hereditary goiter and deafness). (5173174)
1971

Genetic Variations for Pendred Syndrome

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Pendred Syndrome:

62 (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

Expression for genes affiliated with Pendred Syndrome

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1BioGPS, 15Gene 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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29KEGG, 53Reactome
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Compounds for genes affiliated with Pendred Syndrome

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44Novoseek, 24HMDB, 11DrugBank, 2BitterDB, 49PharmGKB
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Compounds related to Pendred Syndrome according to GeneCards/GeneDecks:

(show all 28)
idCompoundScoreTop Affiliating Genes
1iodotyrosine44 2411.2TG, TPO
2diiodotyrosine4410.1TPO, TG
3formate4410.0SLC26A2, SLC26A4, SLC26A5
4Liothyronine11 2410.9DIO2, TPO
5chromium449.9TG, TPO
6propylthiouracil44 2 1111.9DIO2, TPO, TG
7125i449.8TG, TPO, DIO2
8perchlorate449.8TG, TPO, SLC26A4, DUOX2
9gliadin449.8TPO, TG
10oxalate449.8SLC4A1, SLC26A5, SLC26A4, SLC26A2
11methimazole44 2 1111.8DIO2, TPO, TG
12chlorine44 2410.7SLC12A3, SLC26A3, SLC26A5, SLC26A4
13selenium44 2410.7DIO2, TPO, TG
14triiodothyronine449.7TG, TPO, SLC26A4, DIO2
15sodium iodide449.6DUOX2, SLC26A4, PAX8, TPO, TG
16bicarbonate449.6SLC4A1, SLC26A3, SLC26A5, SLC26A4, SLC26A2
17sulfate44 2410.6SLC4A1, SLC26A3, SLC26A5, SLC26A4, SLC26A2
18iodine44 2410.5DIO2, DUOX2, SLC26A4, TPO, TG
19thyroxine44 2410.5TG, TPO, PAX8, SLC26A4, DIO2
20ribonucleic acid449.4TG, TPO, PAX8, DIO2
21potassium44 11 2411.2TPO, SLC12A3, SLC4A1, GJB2
22forskolin44 49 1111.1TPO, PAX8, GJB2, DIO2
23sodium44 249.8DUOX2, SLC4A1, SLC12A3, SLC26A4, PAX8, TPO
24iodide44 249.8TG, DIO2, DUOX2, SLC26A5, SLC26A4, SLC26A2
25chloride448.7GJB2, SLC4A1, SLC12A3, SLC26A3, SLC26A5, SLC26A4
26cysteine448.2COL4A5, DIO2, SLC4A1, SLC26A2, PAX3, TPO
27calcium44 49 11 2410.4DIO2, DUOX2, TRPV6, MITF, GJB2, SLC12A3
28tyrosine447.0DIO2, BAMBI, MITF, SLC4A1, SLC26A4, PAX3

GO Terms for genes affiliated with Pendred Syndrome

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16Gene Ontology
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Cellular components related to Pendred Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1apical plasma membraneGO:0163249.2KCNJ10, DUOX2, SLC12A3, SLC26A3, SLC26A4
2integral to plasma membraneGO:0058877.8SLC26A2, SLC12A3, SLC4A1, TRPV6, KCNJ10, PTPRJ
3plasma membraneGO:0058866.9KCNJ10, PTPRJ, SLC26A2, SLC26A4, SLC26A3, SLC12A3

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1membrane hyperpolarizationGO:06008110.0SLC26A3, KCNJ10
2hydrogen peroxide catabolic processGO:04274410.0TPO, DUOX2
3anion transportGO:00682010.0SLC26A3, SLC4A1
4sulfate transportGO:0082729.8SLC26A3, SLC26A5, SLC26A4, SLC26A2
5thyroid gland developmentGO:0308789.6PAX8, TG
6hormone biosynthetic processGO:0424469.6TPO, TG, DUOX2, DIO2
7thyroid hormone generationGO:0065909.5TG, DIO2, DUOX2, TPO
8sensory perception of soundGO:0076059.4SLC26A4, GJB2, SLC26A5, PAX3
9ion transportGO:0068119.3SLC26A4, SLC26A2, SLC26A3, SLC12A3, SLC4A1
10transmembrane transportGO:0550859.1SLC4A1, SLC12A3, SLC26A3, SLC26A2, SLC26A4

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

idNameGO IDScoreTop Affiliating Genes
1peroxidase activityGO:00460110.0DUOX2, TPO
2anion:anion antiporter activityGO:0153019.8SLC26A3, SLC4A1
3sulfate transmembrane transporter activityGO:0151169.8SLC26A2, SLC26A4
4chloride transmembrane transporter activityGO:0151089.7SLC26A4, SLC4A1, SLC26A3
5secondary active sulfate transmembrane transporter activityGO:0082719.7SLC26A2, SLC26A4, SLC26A5, SLC26A3

Products for genes affiliated with Pendred Syndrome

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  • Antibodies
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Sources for Pendred Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet