PDS
MCID: PND002
MIFTS: 65

Pendred Syndrome (PDS)

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

Aliases & Classifications for Pendred Syndrome

MalaCards integrated aliases for Pendred Syndrome:

Name: Pendred Syndrome 56 12 74 52 25 58 73 29 13 54 6 43 15
Goiter-Deafness Syndrome 56 12 52 25 58 73
Deafness with Goiter 56 12 52 25 73
Thyroid Dyshormonogenesis 2b 56 12 73
Tdh2b 56 12 73
Pds 56 52 73
Pendred's Syndrome 25 71
Autosomal Recessive Sensorineural Hearing Impairment, Enlarged Vestibular Aqueduct, and Goiter 25
Autosomal Recessive Sensorineural Hearing Impairment and Goiter 52
Hypothyroidism, Congenital, Due to Dyshormonogenesis, 2b 56
Congenital Hypothyroidism Due to Dyshormonogenesis 2b 12
Thyroid Hormonogenesis, Genetic Defect in, 2b 56
Genetic Defect in Thyroid Hormonogenesis 2b 12
Thyroid Dyshormonogenesis 2b; Tdh2b 56
Goiter-Hearing Loss Syndrome 58
Syndrome, Pendred 39
Goiter 43

Characteristics:

Orphanet epidemiological data:

58
pendred syndrome
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

56
Miscellaneous:
thyroid carcinoma

Inheritance:
autosomal recessive


HPO:

31
pendred syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare otorhinolaryngological diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0060744
OMIM 56 274600
NCIt 49 C121745
SNOMED-CT 67 70348004
ICD10 32 E07.1
MESH via Orphanet 44 C536648
ICD10 via Orphanet 33 E07.1
UMLS via Orphanet 72 C0271829
Orphanet 58 ORPHA705
MedGen 41 C0271829
UMLS 71 C0271829

Summaries for Pendred Syndrome

Genetics Home Reference : 25 Pendred syndrome is a disorder typically associated with hearing loss and a thyroid condition called a goiter. A goiter is an enlargement of the thyroid gland, which is a butterfly-shaped organ at the base of the neck that produces hormones. If a goiter develops in a person with Pendred syndrome, it usually forms between late childhood and early adulthood. In most cases, this enlargement does not cause the thyroid to malfunction. In most people with Pendred syndrome, severe to profound hearing loss caused by changes in the inner ear (sensorineural hearing loss) is evident at birth. Less commonly, hearing loss does not develop until later in infancy or early childhood. Some affected individuals also have problems with balance caused by dysfunction of the vestibular system, which is the part of the inner ear that helps maintain the body's balance and orientation. An inner ear abnormality called an enlarged vestibular aqueduct (EVA) is a characteristic feature of Pendred syndrome. The vestibular aqueduct is a bony canal that connects the inner ear with the inside of the skull. Some affected individuals also have an abnormally shaped cochlea, which is a snail-shaped structure in the inner ear that helps process sound. The combination of an enlarged vestibular aqueduct and an abnormally shaped cochlea is known as Mondini malformation. Pendred syndrome shares features with other hearing loss and thyroid conditions, and it is unclear whether they are best considered as separate disorders or as a spectrum of related signs and symptoms. These conditions include a form of nonsyndromic hearing loss (hearing loss that does not affect other parts of the body) called DFNB4, and, in a small number of people, a form of congenital hypothyroidism resulting from an abnormally small thyroid gland (thyroid hypoplasia). All of these conditions are caused by mutations in the same gene.

MalaCards based summary : Pendred Syndrome, also known as goiter-deafness syndrome, is related to goiter, multinodular 1, with or without sertoli-leydig cell tumors and endemic goiter. An important gene associated with Pendred Syndrome is SLC26A4 (Solute Carrier Family 26 Member 4), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Aldosterone synthesis and secretion. The drugs Remifentanil and Methimazole have been mentioned in the context of this disorder. Affiliated tissues include thyroid, testes and neutrophil, and related phenotypes are sensorineural hearing impairment and hypoplasia of the cochlea

Disease Ontology : 12 A syndrome characterized by bilateral prelingual sensorineural hearing loss and euthyroid goiter and that has material basis in homozygous or compound heterozygous mutation in the SLC26A4 gene on chromosome 7q.

NIH Rare Diseases : 52 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.

OMIM : 56 Pendred syndrome, the most common syndromal form of deafness, is an autosomal recessive disorder associated with developmental abnormalities of the cochlea, sensorineural hearing loss, and diffuse thyroid enlargement (goiter) (Everett et al., 1997). For a general phenotypic description and a discussion of genetic heterogeneity of thyroid dyshormonogenesis, see TDH1 (274400). (274600)

UniProtKB/Swiss-Prot : 73 Pendred syndrome: An autosomal recessive disorder characterized by congenital sensorineural hearing loss in association with thyroid goiter. The disorder may account for up to 10% of the cases of hereditary deafness. The deafness is most often associated with a Mondini cochlear defect. Deafness occurs early, starting at birth or during the first years of life. It is bilateral, sometimes asymmetrical, fluctuant and often progressive. Thyroid perturbations, such as thyroid goiter and/or hypothyroidism appear most commonly during adolescence, but they can be congenital or appear later.

Wikipedia : 74 Pendred syndrome is a genetic disorder leading to congenital bilateral (both sides) sensorineural... more...

Related Diseases for Pendred Syndrome

Diseases related to Pendred Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 1002)
# Related Disease Score Top Affiliating Genes
1 goiter, multinodular 1, with or without sertoli-leydig cell tumors 35.0 TPO TG
2 endemic goiter 34.6 TPO TG SLC26A4
3 pendred syndrome/nonsyndromic enlarged vestibular aqueduct 34.5 SLC26A4 KCNJ10 FOXI1
4 toxic diffuse goiter 34.5 TPO TG
5 nontoxic goiter 34.3 TPO TG
6 plummer's disease 33.5 TPO TG
7 thyroid angiosarcoma 32.9 TG PAX8
8 congenital hypothyroidism 32.8 TPO TG SLC26A4 PAX8 DUOX2
9 hypothyroidism, congenital, nongoitrous, 2 32.5 TPO TG SLC26A4 PAX8 DUOX2
10 goiter 31.8 TPO TG SLC26A4 PAX8 DUOX2
11 papillary carcinoma 31.5 TPO TG PAX8
12 hypothyroidism 31.5 TPO TG SLC26A4 PAX8 DUOX2
13 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 31.5 SLC26A5 SLC26A4 SLC26A2 KCNJ10 GJB2 FOXI1
14 sensorineural hearing loss 31.4 SLC26A5 SLC26A4 PAX3 MITF KCNJ10 GJB2
15 nonsyndromic hearing loss 31.3 SLC26A4 KCNJ10 GJB2
16 postsurgical hypothyroidism 31.3 TPO TG
17 autosomal recessive non-syndromic sensorineural deafness type dfnb 31.2 SLC26A5 SLC26A4 GJB2
18 differentiated thyroid carcinoma 31.2 TPO TG PAX8
19 nonsyndromic deafness 31.1 MITF GJB2
20 familial thyroid dyshormonogenesis 31.0 TPO TG DUOX2
21 dyshormonogenic goiter 31.0 SLC26A4 DUOX2
22 ear malformation 31.0 SLC26A4 KCNJ10 GJB2 FOXI1
23 thyroid lymphoma 31.0 TPO TG
24 thyroid gland cancer 30.9 TPO TG SLC26A4 PAX8
25 thyroid crisis 30.9 TPO TG
26 congenital chloride diarrhea 30.8 SLC26A3 SLC26A2
27 thyroiditis 30.7 TPO TG SLC26A4
28 iodine hypothyroidism 30.7 TPO TG
29 acute thyroiditis 30.7 TPO TG
30 hypokalemia 30.6 SLC26A4 SLC12A3 KCNJ10 AQP2
31 waardenburg's syndrome 30.6 SLC26A4 PAX3 MITF GJB2
32 multinodular goiter 30.5 TPO TG SLC26A4 PAX8
33 follicular adenoma 30.5 TPO TG SLC26A4 PAX8
34 thyroid gland anaplastic carcinoma 30.5 TPO TG SLC26A4 PAX8
35 thyroid gland follicular carcinoma 30.5 TPO TG PAX8
36 mechanical strabismus 30.4 TPO TG
37 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 30.4 TPO TG
38 permanent congenital hypothyroidism 30.4 TPO DUOX2
39 transient congenital hypothyroidism 30.4 TPO DUOX2
40 diastrophic dysplasia 30.0 SLC26A8 SLC26A5 SLC26A4 SLC26A3 SLC26A2 SLC26A11
41 thyroid gland disease 29.9 TPO TG SLC26A4 PAX8 DUOX2
42 deafness, autosomal recessive 9 29.6 SLC26A4 GJB2
43 goiter, multinodular, cystic renal disease, and digital anomalies 12.6
44 goiter, multinodular 2 12.6
45 goiter, multinodular 3 12.6
46 substernal goiter 12.5
47 parkinson disease, late-onset 12.4
48 lingual goiter 12.4
49 deafness goiter stippled epiphyses 12.1
50 glaucoma-related pigment dispersion syndrome 12.1

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



Diseases related to Pendred Syndrome

Symptoms & Phenotypes for Pendred Syndrome

Human phenotypes related to Pendred Syndrome:

58 31 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorineural hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000407
2 hypoplasia of the cochlea 58 31 hallmark (90%) Very frequent (99-80%) HP:0008586
3 enlarged vestibular aqueduct 58 31 hallmark (90%) Very frequent (99-80%) HP:0011387
4 hypothyroidism 58 31 frequent (33%) Frequent (79-30%) HP:0000821
5 goiter 58 31 frequent (33%) Frequent (79-30%) HP:0000853
6 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
7 neurological speech impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0002167
8 nephropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000112
9 ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001251
10 respiratory insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0002093
11 vertigo 58 31 occasional (7.5%) Occasional (29-5%) HP:0002321
12 hyperparathyroidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000843
13 tracheal stenosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002777
14 thyroid carcinoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002890
15 abnormality of metabolism/homeostasis 31 HP:0001939
16 abnormality of the inner ear 58 Very frequent (99-80%)
17 congenital sensorineural hearing impairment 31 HP:0008527
18 vestibular dysfunction 31 HP:0001751
19 compensated hypothyroidism 31 HP:0008223
20 cochlear malformation 31 HP:0008554

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Neck:
goiter

Head And Neck Ears:
cochlear malformation
congenital neurosensory deafness
vestibular function defect (decreased in some, normal in other patients)

Endocrine Features:
compensated hypothyroidism
euthyroid
hypothyroid

Laboratory Abnormalities:
thyroid hormone organification defect

Clinical features from OMIM:

274600

MGI Mouse Phenotypes related to Pendred Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.28 AQP2 DUOX2 GJB2 KCNJ10 MITF PAX3
2 homeostasis/metabolism MP:0005376 10.24 AQP2 DUOX2 FOXI1 GJB2 KCNJ10 MITF
3 hearing/vestibular/ear MP:0005377 10.1 DUOX2 FOXI1 GJB2 KCNJ10 MITF PAX3
4 craniofacial MP:0005382 10 FOXI1 GJB2 MITF PAX3 PAX8 SLC26A2
5 nervous system MP:0003631 10 DUOX2 FOXI1 GJB2 KCNJ10 MITF PAX3
6 limbs/digits/tail MP:0005371 9.87 GJB2 MITF PAX3 PAX8 SLC26A2 TG
7 renal/urinary system MP:0005367 9.81 AQP2 FOXI1 KCNJ10 MITF PAX3 PAX8
8 reproductive system MP:0005389 9.65 AQP2 DUOX2 FOXI1 GJB2 MITF PAX8
9 skeleton MP:0005390 9.32 DUOX2 FOXI1 GJB2 MITF PAX3 PAX8

Drugs & Therapeutics for Pendred Syndrome

Drugs for Pendred Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 117)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Remifentanil Approved Phase 4 132875-61-7 60815
2
Methimazole Approved Phase 4 60-56-0 1349907
3
Dipivefrin Approved Phase 4 52365-63-6 3105
4
Tramadol Approved, Investigational Phase 4 27203-92-5 33741
5
Acetaminophen Approved Phase 4 103-90-2 1983
6
Guaifenesin Approved, Investigational, Vet_approved Phase 4 93-14-1 3516
7
Codeine Approved, Illicit Phase 4 76-57-3 5284371
8
Parathyroid hormone Approved, Investigational Phase 4 9002-64-6
9
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
10
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
11
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
12
Calcifediol Approved, Nutraceutical Phase 4 19356-17-3 5283731 6433735
13 Trace Elements Phase 4
14 Anti-Infective Agents Phase 4
15 Nutrients Phase 4
16 Anti-Infective Agents, Local Phase 4
17 Micronutrients Phase 4
18 Pharmaceutical Solutions Phase 4
19 Ophthalmic Solutions Phase 4
20 Lubricant Eye Drops Phase 4
21 Guar Phase 4
22 Narcotics Phase 4
23 Analgesics Phase 4
24 Analgesics, Opioid Phase 4
25 Respiratory System Agents Phase 4
26 Analgesics, Non-Narcotic Phase 4
27 Antitussive Agents Phase 4
28 Antipyretics Phase 4
29 Chlorpheniramine, phenylpropanolamine drug combination Phase 4
30 Hormone Antagonists Phase 4
31 Anesthetics Phase 4
32 Vitamins Phase 4
33 Antineoplastic Agents, Hormonal Phase 4
34
protease inhibitors Phase 4
35 Hydroxycholecalciferols Phase 4
36 glucocorticoids Phase 4
37 Antiemetics Phase 4
38 HIV Protease Inhibitors Phase 4
39 Gastrointestinal Agents Phase 4
40 Anti-Inflammatory Agents Phase 4
41 BB 1101 Phase 4
42 Calciferol Phase 4
43
Propylthiouracil Approved, Investigational Phase 3 51-52-5 657298
44 Antimetabolites Phase 3
45
rituximab Approved Phase 1, Phase 2 174722-31-7 10201696
46
Teriparatide Approved, Investigational Phase 2 52232-67-4 16133850
47 Antithyroid Agents Phase 1, Phase 2
48 Antirheumatic Agents Phase 1, Phase 2
49 Antibodies Phase 1, Phase 2
50 Immunoglobulins Phase 1, Phase 2

Interventional clinical trials:

(show top 50) (show all 102)
# Name Status NCT ID Phase Drugs
1 Comparison of Different Doses of Remifentanil on Postoperative Pain in Patients Undergoing Thyroidectomy: a Prospective, Double-blinded Randomized Control Trial Unknown status NCT01761149 Phase 4 Remifentanil
2 Total Thyroidectomy With Harmonic Scalpel® Versus Standard Surgery. Open Multicentric Randomized Controlled Trial Unknown status NCT00385983 Phase 4
3 TSH-adapted Therapy in a Large Randomized, Observer-blind, Placebo-controlled, Prospective Treatment Study of Patients With Nodular Goiter Completed NCT00277589 Phase 4 Levothyroxin-Na;Levothyroxine-Na + iodide;Iodide;Placebo
4 The Influence of Continuous Treatment With Antithyroid Drugs on the Effect of Radioiodine in Patients With Hyperthyroidism Completed NCT00150137 Phase 4 Methimazole
5 The Influence of Continuous Block-replacement Therapy on the Effect of Radioiodine in Patients With Hyperthyroidism Completed NCT00150124 Phase 4 MTZ+LT4;Methimazole
6 Diagnostic Accuracy Study of Indocyanine Green for Parathyroid Perfusion Assessment Completed NCT03969108 Phase 4 Indocyanine Green
7 The Effect of Ocular Surface Lubricant Eyedrops on Lid Parallel Conjunctival Folds (LIPCOF) and Other Signs and Symptoms of Dysfunctional Tear Syndrome Completed NCT01268735 Phase 4 Lubricating eyedrops containing hydroxypropyl-guar
8 Minimizing Narcotic Analgesics After Thyroid or Parathyroid Surgery Active, not recruiting NCT03469310 Phase 4 Acetaminophen 500Mg Cap;Tylenol #3 Oral Tablet;Tramadol
9 The Impact of Preoperative Oral Dexamethasone Supplementation on the Biochemical Parameters and Results of Surgical Treatment in Patients With Nontoxic Multinodular Goiter Undergoing Total Thyroidectomy. Not yet recruiting NCT04412694 Phase 4 Dexamethasone oral tablet 8mg (Dexamethasone Krka tablets(8mg), Warsaw, Poland).;Placebo oral sweetener (Clio tablets, sweetener with a dispenser, Instantina GES, Vienna, Austria).
10 Therapeutic Role of Levothyroxine on the Patients With Atypia of Undetermined Significance (AUS) Goiter Withdrawn NCT02329379 Phase 4 Levothyroxine
11 Prospective Randomized Clinical Trial of Total Thyroidectomy (Tx) Versus Thionamides (Anti-Thyroid Drugs) in Patients With Moderate-to-Severe Graves' Ophthalmopathy - a 1-year Follow-up Unknown status NCT03066076 Phase 3 Antithyroid Drug
12 Comparison of Different Doses of 131I in Severe Graves' Hyperthyroidism: A Clinical Trial With Historical Control Completed NCT01039818 Phase 3
13 Study to Evaluate the Dose, Safety and Effectiveness of Modified-Release Recombinant Human Thyroid Stimulating Hormone (MRrhTSH) When Used in Conjunction With Radioiodine for the Treatment of Multinodular Goiter. Completed NCT00454220 Phase 2 MRrhTSH;MRrhTSH
14 Pretreatment With Recombinant Human Thyrotropin (rhTSH) for the Effect on Thyroid Size and Function, and for the Effect of Radioiodine Treatment in Patients With Nodular Goiter. Prospective, Randomized Double-blinded Trials. Completed NCT00145366 Phase 2 Recombinant human thyrotropin (Thyrogen)
15 The Effect of 0.1 mg Recombinant Human Thyrotropin (rhTSH) on Thyroid Radioiodine-uptake and the Degree of Goiter Reduction Following 131I-therapy, in Patients With Benign Non-toxic Nodular Goiter. A Randomized, Double-blind, Placebo-controlled Trial. Completed NCT00275171 Phase 2 Recombinant human thyrotropin (Thyrogen);recombinant human TSH
16 B Cell Depletion With the Anti-CD20 Monoclonal Antibody Rituximab in the Treatment of Graves' Disease Completed NCT00150111 Phase 1, Phase 2 Methimazole;Rituximab
17 Pilot Study of Teriparatide for Postsurgical Hypoparathyroidism Terminated NCT01171690 Phase 2 Teriparatide
18 Percutaneous Ethanol Injection for Benign Cystic Thyroid Nodules Completed NCT03257930 Phase 1 ethanol injection
19 Phase I Study Comparing Pharmacokinetics and Safety Profile of Thyrogen Versus a Modified Release of Recombinant Human Thyroid Stimulating Hormone Completed NCT00137891 Phase 1 Modified Release rhTSH
20 The Impact of Surgical Treatment of Benign Non-toxic Goiter on the Voice Function Unknown status NCT02468921
21 Cases of Goiter in Children Attending Assiut University Children Hospital Unknown status NCT03202160
22 Changes in Esophageal Motility and Swallowing Symptoms After Thyroid Surgery - a Prospective Cohort Study Unknown status NCT03100357
23 I-124 PET/US for Benign Thyroid Diseases - Blinded, Multicentric Assessment of Augmented Thyroid Work-up Versus Regular Thyroid Diagnostics Unknown status NCT03128255
24 Harmonic FOCUS Versus Conventional Technique in Total Thyroidectomy for Benign Thyroid Disease. A Randomized, Prospective Study Unknown status NCT01658085
25 Is Superior Laryngeal Nerve Really Safe During Thyroidectomy Using Ultrasonic Dissector. Unknown status NCT01812395
26 The Effect of Plaquenil on Serum Inflammatory Markers and Goiter in Euthyroid Young Women With Hashimoto's Thyroiditis Unknown status NCT02126683 Hydroxychloroquine
27 Application of Digital Infrared Thermal Imaging in Thyroid Disease and Associated Ophthalmopathy and Dermopathy Unknown status NCT01182584
28 ThyrOp: Individual Subclinical Hypothyroidism After Hemithyroidectomy for Benign Nontoxic Goiter - Focus on Weight Gain and Mitochondrial Dysfunction Unknown status NCT01358136
29 Alterations in Quality of Life After Thyroidectomy for Benign Thyroid Disease Unknown status NCT03566537
30 Comparative Analysis Between A Bipolar Vessel Sealing and Cutting Device and the Tie and Suture Technique in Thyroidectomy: A Two Institution Randomized Clinical Trial Unknown status NCT02140476
31 Identification of Differentially Expressed Proteins in Parathyroid Tumors and Their Clinical Correlation With the Disease Unknown status NCT01647503
32 Thyroid Dysfunction and Dyslipidemia in Patients With Chronic Kidney Diseases Unknown status NCT03277911
33 Alterations in Muscle's Functional Characteristics After Parathyroid Surgery for Primary Hyperparathyroidism. Unknown status NCT03091140
34 The Impact of Surgical Treatment of Benign Non-toxic Goiter on Quality of Life Completed NCT02651818
35 Clinical and Molecular Analysis of Enlarged Vestibular Aqueducts Completed NCT00023036
36 Thyroidectomy Improves Tracheal Anatomy and Airflow in Patients With Nodular Goiter: A Prospective Cohort Study Completed NCT03072654
37 The Incidence of Thyroid Cancer in 4474 Patients Treated for Hyperthyroidism or Goiter Completed NCT01384786
38 Arathyroid Reimplantation in Forearm Subcutaneous Tissue During Thyroidectomy: a Simple Way to Avoid Ipoparathyroidism and Evaluate Graft Function Completed NCT02194920
39 Swallowing Function Before and After Surgery for Thyroid Goiter Completed NCT00205348
40 Five-year Follow up of a Randomized Clinical Trial of Total Thyroidectomy Versus Dunhill Operation Versus Bilateral Subtotal Thyroidectomy for Multinodular Non-toxic Goiter. Completed NCT00946894
41 Congenital Hypothyroidism Due to Thyroglobulin Mutations in an Inbred Brazilian Family: A Novel Compound Heterozygous Constellation and Intronic Mutation Related to Fetal Goiter. Completed NCT00493103
42 Subtotal Versus Total Thyroidectomy for Benign Thyroid Disease - a Prospective Case-control Surgical Outcome Study. Completed NCT01273714
43 Sutureless Thyroidectomy Versus Conventional Thyroidectomy: Prospective Randomized Clinical Trial Completed NCT03615456
44 Accuracy of Ultrasound Elastastography in Thyroid Nodular Disease. Completed NCT01102127
45 Five-year Follow up of a Randomized Clinical Trial of Unilateral Thyroid Lobectomy With or Without Levothyroxine Treatment Postoperatively Completed NCT00941551 levothyroxine;no levothyroxine
46 Utility of Genetic Testing in Detection of Late-Onset Hearing Loss Completed NCT00511381
47 Harmonic Focus Shears Versus Clamp-and-technique for Total Thyroidectomy Completed NCT01003652
48 Drain or no Drain After Thyroid Surgery: a Randomized Clinical Trial at Mulago Hospital Completed NCT01729741
49 Community Salt Testing and Relation of Iodine Intake to Visual Information Processing of Ethiopian Infants Completed NCT03889431
50 Predictive Parameters for Difficult Tracheal Intubation Identification in Thyroid Surgery, a Observational Monocentric Prospective Study Completed NCT03578601

Search NIH Clinical Center for Pendred Syndrome

Cochrane evidence based reviews: goiter

Genetic Tests for Pendred Syndrome

Genetic tests related to Pendred Syndrome:

# Genetic test Affiliating Genes
1 Pendred Syndrome 29 FOXI1 KCNJ10 SLC26A4

Anatomical Context for Pendred Syndrome

MalaCards organs/tissues related to Pendred Syndrome:

40
Thyroid, Testes, Neutrophil, Kidney, Heart, Eye, Brain

Publications for Pendred Syndrome

Articles related to Pendred Syndrome:

(show top 50) (show all 376)
# Title Authors PMID Year
1
Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese. 54 61 56 6
14508505 2003
2
Solitary thyroid nodule as presenting symptom of Pendred syndrome caused by a novel splice-site mutation in intron 8 of the SLC26A4 gene. 61 56 54 6
12920581 2003
3
Pendred syndrome: phenotypic variability in two families carrying the same PDS missense mutation. 54 61 6 56
10602116 2000
4
Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). 56 61 6 54
9398842 1997
5
Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4). 61 56 6
17503324 2007
6
Phenocopies for deafness and goiter development in a large inbred Brazilian kindred with Pendred's syndrome associated with a novel mutation in the PDS gene. 6 56 54
9920104 1999
7
Molecular analysis of the Pendred's syndrome gene and magnetic resonance imaging studies of the inner ear are essential for the diagnosis of true Pendred's syndrome. 6 56
10902795 2000
8
Heterogeneity in the processing defect of SLC26A4 mutants. 6 54 61
18310264 2008
9
Genetics of congenital hypothyroidism. 56 61 54
15863666 2005
10
Intrafamilial variability of the deafness and goiter phenotype in Pendred syndrome caused by a T416P mutation in the SLC26A4 gene. 61 6 54
15531480 2004
11
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. 6 61 54
12974744 2003
12
Mutations of the PDS gene, encoding pendrin, are associated with protein mislocalization and loss of iodide efflux: implications for thyroid dysfunction in Pendred syndrome. 61 54 56
11932316 2002
13
Pendrin, encoded by the Pendred syndrome gene, resides in the apical region of renal intercalated cells and mediates bicarbonate secretion. 54 61 56
11274445 2001
14
Deafness heterogeneity in a Druze isolate from the Middle East: novel OTOF and PDS mutations, low prevalence of GJB2 35delG mutation and indication for a new DFNB locus. 61 6 54
10878664 2000
15
Enlarged vestibular aqueduct: a radiological marker of pendred syndrome, and mutation of the PDS gene. 56 61 54
10700480 2000
16
Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations. 61 54 6
10190331 1999
17
Splice-site mutation in the PDS gene may result in intrafamilial variability for deafness in Pendred syndrome. 61 54 6
10571950 1999
18
Two frequent missense mutations in Pendred syndrome. 54 61 6
9618166 1998
19
Molecular analysis of the PDS gene in Pendred syndrome. 6 54 61
9618167 1998
20
Spectrum and frequency of SLC26A4 mutations among Czech patients with early hearing loss with and without Enlarged Vestibular Aqueduct (EVA). 61 56
20597900 2010
21
Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms? 61 6
19204907 2009
22
Pendred syndrome in two Galician families: insights into clinical phenotypes through cellular, genetic, and molecular studies. 6 61
17940114 2008
23
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. 56 61
15689455 2005
24
Mutations in the PDS gene in German families with Pendred's syndrome: V138F is a founder mutation. 54 6
12788906 2003
25
Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations. 56 61
11317356 2001
26
Targeted disruption of mouse Pds provides insight about the inner-ear defects encountered in Pendred syndrome. 56 61
11152663 2001
27
Prevalence, age of onset, and natural history of thyroid disease in Pendred syndrome. 61 56
10465108 1999
28
Pendred Syndrome/Nonsyndromic Enlarged Vestibular Aqueduct 6 61
20301640 1998
29
Progressive sensorineural hearing loss and a widened vestibular aqueduct in Pendred syndrome. 61 56
9604973 1998
30
Radiological malformations of the ear in Pendred syndrome. 56 61
9585042 1998
31
Pendred syndrome--100 years of underascertainment? 56 61
9302427 1997
32
The gene for Pendred syndrome is located between D7S501 and D7S692 in a 1.7-cM region on chromosome 7q. 61 56
9070918 1997
33
Pendred syndrome: evidence for genetic homogeneity and further refinement of linkage. 56 61
9039988 1997
34
Thyroid peroxidase: evidence for disease gene exclusion in Pendred's syndrome. 54 56
8706311 1996
35
Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4. 56 61
8630497 1996
36
Pendred syndrome maps to chromosome 7q21-34 and is caused by an intrinsic defect in thyroid iodine organification. 61 56
8630498 1996
37
A patient with dup(10p)del(8q) and Pendred syndrome. 56 61
3717206 1986
38
Thyroid function in a family with the Pendred syndrome. 56 61
4307394 1969
39
A distinct spectrum of SLC26A4 mutations in patients with enlarged vestibular aqueduct in China. 6
17718863 2007
40
Genetic basis of hearing loss associated with enlarged vestibular aqueducts in Koreans. 6
15679828 2005
41
Hereditary Hearing Loss and Deafness Overview 6
20301607 1999
42
Linkage of congenital, recessive deafness (DFNB4) to chromosome 7q31 and evidence for genetic heterogeneity in the Middle Eastern Druze population. 6
8541853 1995
43
Studies on the thyroidal defect in an atypical form of Pendred's syndrome. 56
1159063 1975
44
Thyroidal iodopriteins in Pendred's syndrome. 56
4443702 1974
45
Pituitary-thyroid function in Pendred's syndrome. 56
4132986 1974
46
Normal peroxidase activity in Pendred's syndrome. 56
4346605 1973
47
The concentration of peroxidase in normal and adenomatous human thyroid tissue with special reference to patients with Pendred's syndrome. 56
4739179 1973
48
Fifteen cases of Pendred's syndrome. Congenital deafness and sporadic goiter. 56
4343141 1972
49
A family with deafness, goitre, epilepsy and low intelligence segregating independently. 56
5517050 1970
50
Thyroidal iodoproteins in Pendred's syndrome. 56
4970955 1968

Variations for Pendred Syndrome

ClinVar genetic disease variations for Pendred Syndrome:

6 (show top 50) (show all 442) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC26A4 NM_000441.2(SLC26A4):c.1707+5G>ASNV Pathogenic 446457 rs192366176 7:107340625-107340625 7:107700180-107700180
2 SLC26A4 NM_000441.2(SLC26A4):c.1149+1deldeletion Pathogenic 402275 rs1060499807 7:107329645-107329645 7:107689200-107689200
3 SLC26A4 NM_000441.2(SLC26A4):c.2048T>C (p.Phe683Ser)SNV Pathogenic 402277 rs1060499808 7:107344789-107344789 7:107704344-107704344
4 SLC26A4 NM_000441.2(SLC26A4):c.1147del (p.Gln383fs)deletion Pathogenic 553520 rs1374999656 7:107329642-107329642 7:107689197-107689197
5 SLC26A4 NM_000441.2(SLC26A4):c.2044G>T (p.Glu682Ter)SNV Pathogenic 558657 rs1554361584 7:107344785-107344785 7:107704340-107704340
6 SLC26A4 NM_000441.2(SLC26A4):c.349del (p.Leu117fs)deletion Pathogenic 551863 rs1275009555 7:107312627-107312627 7:107672182-107672182
7 SLC26A4 NM_000441.2(SLC26A4):c.2118C>A (p.Cys706Ter)SNV Pathogenic 551315 rs142656144 7:107350527-107350527 7:107710082-107710082
8 SLC26A4 NM_000441.2(SLC26A4):c.1746del (p.Ala584fs)deletion Pathogenic 627476 rs1241745103 7:107341584-107341584 7:107701139-107701139
9 SLC26A4 NM_000441.2(SLC26A4):c.1458dup (p.Ile487fs)duplication Pathogenic 813397 7:107336397-107336398 7:107695952-107695953
10 SLC26A4 SLC26A4, 1-BP DEL, 1565Gdeletion Pathogenic 4813
11 SLC26A4 SLC26A4, 1-BP DEL, 1421Tdeletion Pathogenic 4814
12 SLC26A4 NM_000441.2(SLC26A4):c.2000T>G (p.Phe667Cys)SNV Pathogenic 4812 rs121908360 7:107342468-107342468 7:107702023-107702023
13 SLC26A4 NM_000441.2(SLC26A4):c.1489G>A (p.Gly497Ser)SNV Pathogenic 43510 rs111033308 7:107336429-107336429 7:107695984-107695984
14 SLC26A4 NM_000441.2(SLC26A4):c.707T>C (p.Leu236Pro)SNV Pathogenic 4817 rs80338848 7:107315496-107315496 7:107675051-107675051
15 SLC26A4 NM_000441.2(SLC26A4):c.1246A>C (p.Thr416Pro)SNV Pathogenic 4818 rs28939086 7:107330665-107330665 7:107690220-107690220
16 SLC26A4 NM_000441.2(SLC26A4):c.1001+1G>ASNV Pathogenic 4819 rs80338849 7:107323983-107323983 7:107683538-107683538
17 SLC26A4 NM_000441.2(SLC26A4):c.2162C>T (p.Thr721Met)SNV Pathogenic 4826 rs121908363 7:107350571-107350571 7:107710126-107710126
18 SLC26A4 NM_000441.2(SLC26A4):c.415+7A>GSNV Pathogenic 4828 7:107312700-107312700 7:107672255-107672255
19 SLC26A4 NM_000441.2(SLC26A4):c.1334T>G (p.Leu445Trp)SNV Pathogenic 4829 rs111033307 7:107334918-107334918 7:107694473-107694473
20 SLC26A4 SLC26A4, 1-BP DEL, 1197Tdeletion Pathogenic 4831
21 SLC26A4 NM_000441.2(SLC26A4):c.2182_2183insG (p.Tyr728Ter)insertion Pathogenic 4832 7:107350591-107350592 7:107710146-107710147
22 SLC26A4 SLC26A4, IVS8, C-G, 1002-4SNV Pathogenic 4833
23 SLC26A4 NM_000441.2(SLC26A4):c.626G>T (p.Gly209Val)SNV Pathogenic 4821 rs111033303 7:107315415-107315415 7:107674970-107674970
24 SLC26A4 NM_000441.2(SLC26A4):c.412G>T (p.Val138Phe)SNV Pathogenic 4835 rs111033199 7:107312690-107312690 7:107672245-107672245
25 SLC26A4 NM_000441.2(SLC26A4):c.85G>C (p.Glu29Gln)SNV Pathogenic 4839 rs111033205 7:107302171-107302171 7:107661726-107661726
26 SLC26A4 NM_000441.2(SLC26A4):c.919-2A>GSNV Pathogenic 4840 rs111033313 7:107323898-107323898 7:107683453-107683453
27 FOXI1 NM_012188.5(FOXI1):c.800G>A (p.Arg267Gln)SNV Pathogenic 8450 rs121909341 5:169535278-169535278 5:170108274-170108274
28 SLC26A4 NM_000441.2(SLC26A4):c.1204G>A (p.Val402Met)SNV Pathogenic 43495 rs397516414 7:107330623-107330623 7:107690178-107690178
29 SLC26A4 NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His)SNV Pathogenic 43496 rs111033305 7:107330645-107330645 7:107690200-107690200
30 SLC26A4 NM_000441.2(SLC26A4):c.1229C>T (p.Thr410Met)SNV Pathogenic 43498 rs111033220 7:107330648-107330648 7:107690203-107690203
31 SLC26A4 NM_000441.2(SLC26A4):c.1341+1deldeletion Pathogenic 43505 rs397516417 7:107334925-107334925 7:107694480-107694480
32 SLC26A4 NM_000441.2(SLC26A4):c.1541A>G (p.Gln514Arg)SNV Pathogenic 43511 rs111033316 7:107336481-107336481 7:107696036-107696036
33 SLC26A4 NM_000441.2(SLC26A4):c.1614+1G>ASNV Pathogenic 43516 rs111033312 7:107338557-107338557 7:107698112-107698112
34 SLC26A4 NM_000441.2(SLC26A4):c.164+2T>CSNV Pathogenic 43518 rs397516420 7:107302252-107302252 7:107661807-107661807
35 SLC26A4 NM_000441.2(SLC26A4):c.294_298del (p.Thr99fs)deletion Pathogenic 43551 rs111033241 7:107303868-107303872 7:107663423-107663427
36 SLC26A4 NM_000441.2(SLC26A4):c.997dup (p.Arg333fs)duplication Pathogenic 97015 rs431905486 7:107323976-107323977 7:107683531-107683532
37 SLC26A4 NM_000441.2(SLC26A4):c.2089+1G>ASNV Pathogenic 165263 rs727503430 7:107344831-107344831 7:107704386-107704386
38 SLC26A4 NM_000441.2(SLC26A4):c.365dup (p.Ile124fs)duplication Pathogenic 189148 rs786204730 7:107312637-107312638 7:107672192-107672193
39 SLC26A4 NM_000441.2(SLC26A4):c.249G>A (p.Trp83Ter)SNV Pathogenic 370650 rs1057516658 7:107303825-107303825 7:107663380-107663380
40 SLC26A4 NM_000441.2(SLC26A4):c.281C>T (p.Thr94Ile)SNV Pathogenic 371034 rs1057516953 7:107303857-107303857 7:107663412-107663412
41 SLC26A4 NM_000441.2(SLC26A4):c.416-1G>ASNV Pathogenic 371079 rs1057516988 7:107314608-107314608 7:107674163-107674163
42 SLC26A4 NM_000441.2(SLC26A4):c.600+2T>ASNV Pathogenic 370937 rs1057516881 7:107314795-107314795 7:107674350-107674350
43 SLC26A4 NM_000441.2(SLC26A4):c.1341+1G>CSNV Pathogenic 370343 rs376653349 7:107334926-107334926 7:107694481-107694481
44 SLC26A4 NM_000441.2(SLC26A4):c.2228T>A (p.Leu743Ter)SNV Pathogenic 371476 rs1057517303 7:107350637-107350637 7:107710192-107710192
45 SLC26A4 NM_000441.2(SLC26A4):c.2319+1G>ASNV Pathogenic/Likely pathogenic 371164 rs542079779 7:107353068-107353068 7:107712623-107712623
46 SLC26A4 NM_000441.2(SLC26A4):c.916dup (p.Val306fs)duplication Pathogenic/Likely pathogenic 370192 rs768245266 7:107323796-107323797 7:107683351-107683352
47 SLC26A4 NM_000441.2(SLC26A4):c.918+2T>CSNV Pathogenic/Likely pathogenic 370108 rs912147281 7:107323801-107323801 7:107683356-107683356
48 SLC26A4 NM_000441.2(SLC26A4):c.1001+1G>TSNV Pathogenic/Likely pathogenic 370123 rs80338849 7:107323983-107323983 7:107683538-107683538
49 SLC26A4 NM_000441.2(SLC26A4):c.1225C>T (p.Arg409Cys)SNV Pathogenic/Likely pathogenic 371421 rs147952620 7:107330644-107330644 7:107690199-107690199
50 SLC26A4 NM_000441.2(SLC26A4):c.142G>T (p.Glu48Ter)SNV Pathogenic/Likely pathogenic 371369 rs201636911 7:107302228-107302228 7:107661783-107661783

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

73 (show all 41)
# Symbol AA change Variation ID SNP ID
1 SLC26A4 p.Gly209Val VAR_007440 rs111033303
2 SLC26A4 p.Leu236Pro VAR_007441 rs80338848
3 SLC26A4 p.Thr416Pro VAR_007445 rs28939086
4 SLC26A4 p.Phe667Cys VAR_007447 rs121908360
5 SLC26A4 p.Thr721Met VAR_007448 rs121908363
6 SLC26A4 p.His723Arg VAR_007449 rs121908362
7 SLC26A4 p.Thr193Ile VAR_011623 rs111033348
8 SLC26A4 p.Ser28Arg VAR_021639 rs539699299
9 SLC26A4 p.Glu29Gln VAR_021640 rs111033205
10 SLC26A4 p.Tyr78Cys VAR_021641
11 SLC26A4 p.Gly102Arg VAR_021643 rs121972428
12 SLC26A4 p.Tyr105Cys VAR_021645 rs144259999
13 SLC26A4 p.Ala106Asp VAR_021646
14 SLC26A4 p.Leu117Phe VAR_021647 rs145254330
15 SLC26A4 p.Ser133Thr VAR_021649 rs121908365
16 SLC26A4 p.Ser137Pro VAR_021650 rs155435438
17 SLC26A4 p.Val138Phe VAR_021651 rs111033199
18 SLC26A4 p.Gly139Ala VAR_021652
19 SLC26A4 p.Val239Asp VAR_021653 rs111033256
20 SLC26A4 p.Asp271His VAR_021655
21 SLC26A4 p.Phe335Leu VAR_021656 rs111033212
22 SLC26A4 p.Ser391Asn VAR_021657
23 SLC26A4 p.Arg409His VAR_021659 rs111033305
24 SLC26A4 p.Thr410Met VAR_021661 rs111033220
25 SLC26A4 p.Ala411Pro VAR_021662 rs129397173
26 SLC26A4 p.Gln446Arg VAR_021665 rs768471577
27 SLC26A4 p.Val480Asp VAR_021668
28 SLC26A4 p.Tyr530His VAR_021670 rs111033254
29 SLC26A4 p.Ser552Ile VAR_021671
30 SLC26A4 p.Tyr556Cys VAR_021672 rs763006761
31 SLC26A4 p.Tyr556His VAR_021673
32 SLC26A4 p.Cys565Tyr VAR_021674 rs111033257
33 SLC26A4 p.Val653Ala VAR_021676 rs155436101
34 SLC26A4 p.Gly672Glu VAR_021677 rs111033309
35 SLC26A4 p.Ser694Pro VAR_021680 rs981410021
36 SLC26A4 p.Asp724Asn VAR_021681 rs994170964
37 SLC26A4 p.Thr508Asn VAR_027240
38 SLC26A4 p.Gln514Arg VAR_027241 rs111033316
39 SLC26A4 p.Tyr530Ser VAR_027242 rs747636919
40 SLC26A4 p.Val402Met VAR_058580 rs397516414
41 SLC26A4 p.Met775Thr VAR_058581

Expression for Pendred Syndrome

Search GEO for disease gene expression data for Pendred Syndrome.

Pathways for Pendred Syndrome

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.35 TRPV6 SLC4A1 SLC26A4 SLC26A3 SLC26A2 SLC26A11
2
Show member pathways
12.2 TPO TG SLC26A4 PAX8 MITF DUOX2
3 9.93 TPO TG

GO Terms for Pendred Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 10.1 TRPV6 TPO SLC4A1 SLC26A8 SLC26A5 SLC26A4
2 plasma membrane GO:0005886 10 TRPV6 TPO SLC4A1 SLC26A8 SLC26A5 SLC26A4
3 basolateral plasma membrane GO:0016323 9.62 SLC4A1 SLC26A5 KCNJ10 AQP2
4 integral component of plasma membrane GO:0005887 9.44 TRPV6 TPO SLC4A1 SLC26A8 SLC26A5 SLC26A4
5 apical plasma membrane GO:0016324 9.43 SLC26A4 SLC26A3 SLC26A2 SLC12A3 DUOX2 AQP2
6 astrocyte projection GO:0097449 9.37 KCNJ10 GJB2

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 10.1 TRPV6 SLC26A8 SLC26A5 SLC26A4 SLC26A3 SLC26A2
2 ion transport GO:0006811 10.09 TRPV6 SLC4A1 SLC26A8 SLC26A4 SLC26A3 SLC26A2
3 chloride transmembrane transport GO:1902476 9.87 SLC4A1 SLC26A8 SLC26A5 SLC26A4 SLC26A3 SLC26A2
4 anion transmembrane transport GO:0098656 9.85 SLC4A1 SLC26A8 SLC26A5 SLC26A4 SLC26A3 SLC26A11
5 sensory perception of sound GO:0007605 9.84 SLC26A5 SLC26A4 PAX3 GJB2
6 chloride transport GO:0006821 9.73 SLC4A1 SLC26A8 SLC26A3
7 bicarbonate transport GO:0015701 9.73 SLC4A1 SLC26A8 SLC26A5 SLC26A4 SLC26A3 SLC26A2
8 anion transport GO:0006820 9.69 SLC4A1 SLC26A8 SLC26A3
9 thyroid gland development GO:0030878 9.67 TG PAX8 DUOX2
10 thyroid hormone generation GO:0006590 9.65 TPO TG DUOX2
11 hormone biosynthetic process GO:0042446 9.63 TPO TG DUOX2
12 sperm capacitation GO:0048240 9.58 SLC26A8 SLC26A3
13 positive regulation of cell motility GO:2000147 9.58 SLC26A5 DUOX2
14 potassium ion homeostasis GO:0055075 9.57 SLC12A3 KCNJ10
15 thyroid hormone metabolic process GO:0042403 9.55 TG DUOX2
16 oxalate transport GO:0019532 9.55 SLC26A8 SLC26A5 SLC26A4 SLC26A3 SLC26A2
17 iodide transport GO:0015705 9.52 TG SLC26A4
18 sulfate transport GO:0008272 9.43 SLC26A8 SLC26A5 SLC26A4 SLC26A3 SLC26A2 SLC26A11
19 sulfate transmembrane transport GO:1902358 9.1 SLC26A8 SLC26A5 SLC26A4 SLC26A3 SLC26A2 SLC26A11

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

# Name GO ID Score Top Affiliating Genes
1 sulfate transmembrane transporter activity GO:0015116 9.8 SLC26A8 SLC26A5 SLC26A4 SLC26A3 SLC26A2 SLC26A11
2 oxalate transmembrane transporter activity GO:0019531 9.77 SLC26A8 SLC26A5 SLC26A4 SLC26A3 SLC26A2
3 chloride transmembrane transporter activity GO:0015108 9.73 SLC4A1 SLC26A8 SLC26A5 SLC26A4 SLC26A3 SLC26A2
4 bicarbonate transmembrane transporter activity GO:0015106 9.63 SLC4A1 SLC26A8 SLC26A5 SLC26A4 SLC26A3 SLC26A2
5 anion transmembrane transporter activity GO:0008509 9.58 SLC4A1 SLC26A8 SLC26A11
6 secondary active sulfate transmembrane transporter activity GO:0008271 9.43 SLC26A8 SLC26A5 SLC26A4 SLC26A3 SLC26A2 SLC26A11
7 anion:anion antiporter activity GO:0015301 9.17 SLC4A1 SLC26A8 SLC26A5 SLC26A4 SLC26A3 SLC26A2

Sources for Pendred Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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