MCID: PND002
MIFTS: 56

Pendred Syndrome

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

Aliases & Classifications for Pendred Syndrome

MalaCards integrated aliases for Pendred Syndrome:

Name: Pendred Syndrome 54 12 72 50 25 56 71 13 52 42 14
Goiter-Deafness Syndrome 12 50 25 56 71
Deafness with Goiter 12 50 25 71
Pendred's Syndrome 25 29 69
Thyroid Dyshormonogenesis 2b 12 71
Tdh2b 12 71
Pds 50 71
Autosomal Recessive Sensorineural Hearing Impairment, Enlarged Vestibular Aqueduct, and Goiter 25
Autosomal Recessive Sensorineural Hearing Impairment and Goiter 50
Congenital Hypothyroidism Due to Dyshormonogenesis 2b 12
Genetic Defect in Thyroid Hormonogenesis 2b 12

Characteristics:

Orphanet epidemiological data:

56
pendred syndrome
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
thyroid carcinoma


HPO:

32
pendred syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 274600
Disease Ontology 12 DOID:0060744
ICD10 33 E07.1
Orphanet 56 ORPHA705
MESH via Orphanet 43 C536648
UMLS via Orphanet 70 C0271829
ICD10 via Orphanet 34 E07.1
MedGen 40 C0271829
UMLS 69 C0271829

Summaries for Pendred Syndrome

NIH Rare Diseases : 50 pendred syndrome is a condition usually characterized by sensorineural hearing loss in both ears (bilateral) and euthyroid goiter (enlargement of the thyroid gland with normal thyroid gland function). the amount of hearing loss varies among affected people. in many cases, significant hearing loss is present at birth. in other cases, hearing loss does not develop until later in infancy or childhood. some people have problems with balance caused by dysfunction of the part of the inner ear that helps with balance and orientation (the vestibular system). pendred syndrome is inherited in an autosomal recessive manner. mutations in 3 genes are currently known to cause the condition (slc26a4, foxi1, and kcnj10) and are found in about half of affected people. other genes responsible for the condition have not yet been identified. last updated: 11/24/2014

MalaCards based summary : Pendred Syndrome, also known as goiter-deafness syndrome, is related to foxi1-related pendred syndrome and kcnj10-related pendred syndrome, and has symptoms including ataxia, intellectual disability and respiratory insufficiency. An important gene associated with Pendred Syndrome is SLC26A4 (Solute Carrier Family 26 Member 4), and among its related pathways/superpathways are Transcriptional misregulation in cancer and Insulin secretion. Affiliated tissues include thyroid, and related phenotypes are growth/size/body region and homeostasis/metabolism

UniProtKB/Swiss-Prot : 71 Pendred syndrome: An autosomal recessive disorder characterized by congenital sensorineural hearing loss in association with thyroid goiter. The disorder may account for up to 10% of the cases of hereditary deafness. The deafness is most often associated with a Mondini cochlear defect. Deafness occurs early, starting at birth or during the first years of life. It is bilateral, sometimes asymmetrical, fluctuant and often progressive. Thyroid perturbations, such as thyroid goiter and/or hypothyroidism appear most commonly during adolescence, but they can be congenital or appear later.

Genetics Home Reference : 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.

OMIM : 54
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)

Disease Ontology : 12 An autosomal recessive disease 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.

Wikipedia : 72 Pendred syndrome or Pendred disease is a genetic disorder leading to congenital bilateral (both sides)... more...

Related Diseases for Pendred Syndrome

Diseases in the Pendred Syndrome family:

Foxi1-Related Pendred Syndrome Kcnj10-Related Pendred Syndrome
Slc26a4-Related Pendred Syndrome

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

(showing 102, show less)
id Related Disease Score Top Affiliating Genes
1 foxi1-related pendred syndrome 11.8
2 kcnj10-related pendred syndrome 11.8
3 slc26a4-related pendred syndrome 11.8
4 parkinson disease, late-onset 11.7
5 pendred syndrome/dfnb4 11.5
6 prolidase deficiency 11.5
7 multiple system atrophy 11.0
8 personality disorder 11.0
9 corticobasal degeneration 11.0
10 spondylodysplastic ehlers-danlos syndrome 10.9
11 mohr-tranebjaerg syndrome 10.9
12 parkinson disease 19a, juvenile-onset 10.8
13 pigment dispersion syndrome 10.8
14 ehlers-danlos syndrome with short stature and limb anomalies 10.8
15 maxillary sinus adenoid cystic carcinoma 10.7 TG TPO
16 leber congenital amaurosis 14 10.7 GJB2 SLC26A4
17 rhabdomyosarcoma, embryonal, 2 10.7 TG TPO
18 fascioliasis 10.7 GJB2 SLC26A4
19 cataract 26, multiple types 10.7 GJB2 SLC26A4
20 hyperphenylalaninemia, mild, non-bh4-deficient 10.7 GJB2 SLC26A4
21 epilepsy, pyridoxine-dependent 10.7
22 parkinson disease 17 10.7
23 frontotemporal lobar degeneration with ubiquitin-positive inclusions 10.7
24 parkinson disease 20, early-onset 10.7
25 kufor-rakeb syndrome 10.7
26 diphallia 10.7
27 parkinson disease 21 10.7
28 parkinson disease 18 10.7
29 dementia, lewy body 10.7
30 background diabetic retinopathy 10.7 TG TPO
31 tick paralysis 10.7 TG TPO
32 chronic frontal sinusitis 10.6 TG TPO
33 amelogenesis imperfecta, hypomaturation type, iia6 10.6 TG TPO
34 hypothyroidism, congenital, nongoitrous 4 10.6 TG TPO
35 cerebral lipidosis 10.6 TG TPO
36 conjunctival deposit 10.6 TG TPO
37 endemic goiter 10.6 TG TPO
38 lung occult large cell carcinoma 10.6 TG TPO
39 hyperglycemia 10.5 GJB2 MITF
40 color blindness 10.5 TG TPO
41 tibia absent polydactyly arachnoid cyst 10.5 PAX8 TG
42 severe combined immunodeficiency, athabascan type 10.5 GJB2 SLC26A4
43 pulmonary neuroendocrine tumor 10.5 PAX8 TG
44 diabetes mellitus, insulin-dependent, 12 10.5 SLC26A4 TG TPO
45 microcephaly and chorioretinopathy, autosomal recessive, 3 10.5 GJB2 SLC26A4
46 waardenburg syndrome, type 3 10.5 MITF PAX3
47 melanoma, cutaneous malignant 8 10.4 MITF PAX3
48 mixed lacrimal gland cancer 10.4 GJB2 PAX3 SLC26A4
49 c5 deficiency 10.4 TG TPO
50 thyroiditis 10.4
51 left-right axis malformations 10.4 AQP2 KCNJ10 SLC12A3
52 trachea sarcoma 10.3 SLC26A3 TG
53 nodular prostate 10.3 TG TPO
54 panhypophysitis 10.3 PAX8 SLC26A4 TG
55 hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia 10.3 PAX8 SLC26A4 TG
56 secretory diarrhea myopathy and deafness 10.3 SLC26A2 SLC26A3
57 endometritis 10.3 GJB2 MITF SLC26A4
58 biliary papillomatosis 10.3 MITF PAX3 SLC26A4
59 pycnodysostosis 10.3 MITF SLC26A2
60 multilocular clear cell renal cell carcinoma 10.3 MITF PAX3
61 nephrogenic systemic fibrosis 10.2 PAX8 TG TPO
62 congenital muscular dystrophy due to lmna mutation 10.2 GJB2 SLC26A4
63 bladder diffuse clear cell adenocarcinoma 10.2 PAX8 TG TPO
64 gastrointestinal system cancer 10.2 PAX8 TG TPO
65 chorea, hereditary benign 10.2 PAX8 TG TPO
66 goiter 10.2
67 non-distal trisomy 10q 10.2 PAX8 TG TPO
68 tyrosinemia 10.2 GJB2 MITF PAX3
69 frontotemporal dementia and/or amyotrophic lateral sclerosis 4 10.2 PAX8 TG TPO
70 discrete papular lichen myxedematosus 10.1 GJB2 SLC26A4 SLC26A5
71 autosomal recessive nonsyndromic deafness 8 10.0 GJB2 SLC26A4
72 pancreas disease 10.0
73 endotheliitis 10.0
74 meningovascular neurosyphilis 10.0 PAX8 SLC26A4 TG TPO
75 peritoneal mesothelioma 10.0 PAX8 SLC26A4 TG TPO
76 peritonitis 10.0
77 sensorineural hearing loss 10.0
78 hypothyroidism 10.0
79 adenohypophysitis 10.0 DUOX2 TG TPO
80 viral laryngitis 9.9 AQP2 FOXI1 GJB2 KCNJ10 SLC26A4
81 autosomal dominant nonsyndromic deafness 69 9.9 SLC26A2 SLC26A3
82 cervicitis 9.9
83 robinow syndrome, autosomal dominant 1 9.9 GJB2 SLC26A3 SLC26A5
84 neuronitis 9.8
85 rem sleep behavior disorder 9.8
86 tremor 9.8
87 panic disorder 9.8
88 autosomal recessive nonsyndromic deafness 9.8 FOXI1 GJB2 MITF PAX3 SLC26A4
89 hypokalemia 9.7
90 bipolar disorder 9.7
91 congenital hypothyroidism 9.7
92 nonsyndromic deafness 9.7
93 asthma 9.7
94 echinostomiasis 9.6 DUOX2 SLC26A2 SLC26A4 TG
95 epiphyseal dysplasia, multiple, 4 9.5 SLC26A2 SLC26A3 SLC26A4 SLC26A5
96 atelosteogenesis ii 9.5 SLC26A2 SLC26A3 SLC26A4 SLC26A5
97 primary bacterial infectious disease 9.4 DUOX2 PAX8 TG TPO
98 dihydrolipoamide dehydrogenase deficiency 9.2 FOXI1 GJB2 KCNJ10 SLC26A2 SLC26A4 SLC26A5
99 fibrolamellar carcinoma 9.2 DUOX2 PAX8 SLC26A4 TG TPO
100 otosclerosis 9.2 DUOX2 PAX8 SLC26A4 TG TPO
101 cholesterol embolism 9.2 DUOX2 PAX8 SLC26A4 TG TPO
102 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 5.3 AQP2 DUOX2 FOXI1 GJB2 KCNJ10 MITF

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



Diseases related to Pendred Syndrome

Symptoms & Phenotypes for Pendred Syndrome

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Neck:
goiter

Endocrine Features:
euthyroid
hypothyroid
compensated hypothyroidism

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

Laboratory- Abnormalities:
thyroid hormone organification defect


Clinical features from OMIM:

274600

Human phenotypes related to Pendred Syndrome:

56 32 (showing 20, show less)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001251
2 intellectual disability 56 32 occasional (7.5%) Occasional (29-5%) HP:0001249
3 respiratory insufficiency 56 32 occasional (7.5%) Occasional (29-5%) HP:0002093
4 hyperparathyroidism 56 32 occasional (7.5%) Occasional (29-5%) HP:0000843
5 goiter 56 32 frequent (33%) Frequent (79-30%) HP:0000853
6 vertigo 56 32 occasional (7.5%) Occasional (29-5%) HP:0002321
7 hypothyroidism 56 32 frequent (33%) Frequent (79-30%) HP:0000821
8 sensorineural hearing impairment 56 32 hallmark (90%) Very frequent (99-80%) HP:0000407
9 tracheal stenosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002777
10 nephropathy 56 32 occasional (7.5%) Occasional (29-5%) HP:0000112
11 thyroid carcinoma 56 32 occasional (7.5%) Occasional (29-5%) HP:0002890
12 enlarged vestibular aqueduct 56 32 hallmark (90%) Very frequent (99-80%) HP:0011387
13 neurological speech impairment 56 32 occasional (7.5%) Occasional (29-5%) HP:0002167
14 hypoplasia of the cochlea 56 32 hallmark (90%) Very frequent (99-80%) HP:0008586
15 vestibular dysfunction 32 HP:0001751
16 cochlear malformation 32 HP:0008554
17 compensated hypothyroidism 32 HP:0008223
18 abnormality of metabolism/homeostasis 32 HP:0001939
19 congenital sensorineural hearing impairment 32 HP:0008527
20 abnormality of the inner ear 56 Very frequent (99-80%)

MGI Mouse Phenotypes related to Pendred Syndrome:

44 (showing 11, show less)
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.23 SLC26A3 SLC26A5 TG TPO AQP2 DUOX2
2 homeostasis/metabolism MP:0005376 10.22 AQP2 DUOX2 FOXI1 GJB2 KCNJ10 MITF
3 hearing/vestibular/ear MP:0005377 10.13 GJB2 KCNJ10 MITF PAX3 PAX8 SLC26A4
4 endocrine/exocrine gland MP:0005379 10.08 DUOX2 MITF PAX3 PAX8 SLC26A3 SLC26A4
5 mortality/aging MP:0010768 10.02 AQP2 FOXI1 GJB2 KCNJ10 MITF PAX3
6 craniofacial MP:0005382 9.97 FOXI1 GJB2 MITF PAX3 PAX8 SLC26A2
7 nervous system MP:0003631 9.96 DUOX2 FOXI1 GJB2 KCNJ10 MITF PAX3
8 limbs/digits/tail MP:0005371 9.85 GJB2 MITF PAX3 PAX8 SLC26A2 TPO
9 renal/urinary system MP:0005367 9.7 AQP2 FOXI1 KCNJ10 PAX3 PAX8 SLC12A3
10 reproductive system MP:0005389 9.5 AQP2 DUOX2 FOXI1 GJB2 MITF PAX8
11 skeleton MP:0005390 9.28 DUOX2 FOXI1 GJB2 MITF PAX3 PAX8

Drugs & Therapeutics for Pendred Syndrome

Interventional clinical trials:

(showing 2, show less)

id Name Status NCT ID Phase Drugs
1 Clinical and Genetic Analysis of Enlarged Vestibular Aqueducts Recruiting NCT00023036
2 The Prevalence of Hearing Loss Among Children With Congenital Hypothyroidism Withdrawn NCT01223638

Search NIH Clinical Center for Pendred Syndrome

Cochrane evidence based reviews: pendred syndrome

Genetic Tests for Pendred Syndrome

Genetic tests related to Pendred Syndrome:

id Genetic test Affiliating Genes
1 Pendred's Syndrome 29

Anatomical Context for Pendred Syndrome

MalaCards organs/tissues related to Pendred Syndrome:

39
Thyroid

Publications for Pendred Syndrome

Articles related to Pendred Syndrome:

(showing 128, show less)
id Title Authors Year
1
Exome sequencing identifies SLC26A4, GJB2, SCARB2 and DUOX2 mutations in 2 siblings with Pendred syndrome in a Malaysian family. ( 28222800 )
2017
2
Pendred syndrome. ( 28648509 )
2017
3
Targeted Next-Generation Sequencing Analysis of a Pendred Syndrome-Associated Thyroid Carcinoma. ( 26744121 )
2016
4
Delayed diagnosis of Pendred syndrome. ( 27620717 )
2016
5
Pendred Syndrome in a Newborn with Neck Swelling: A Case Report. ( 26936928 )
2016
6
Cochlear implantation in Pendred syndrome and non-syndromic enlarged vestibular aqueduct - clinical challenges, surgical results, and complications. ( 27241825 )
2016
7
[The clinical definition and etiology of Pendred syndrome (a review of the literature and clinical observations)]. ( 28091472 )
2016
8
Patients with Pendred syndrome:is cochlear implantation beneficial? ( 26331303 )
2015
9
Identification of a founder mutation for Pendred syndrome in families from northwest Iran. ( 25239229 )
2014
10
Evaluation of genotype-phenotype relationships in patients referred for endocrine assessment in suspected Pendred syndrome. ( 25394566 )
2014
11
Bipolar disorder in Pendred syndrome: a case report of two siblings. ( 24595510 )
2014
12
Mutations in the Pendred Syndrome (PDS/SLC26A) Gene: An Increasingly Complex Phenotypic Spectrum From Goiter to Thyroid Hypoplasia. ( 24384016 )
2014
13
A1555G homoplasmic mutation from A1555G heteroplasmic mother with Pendred syndrome. ( 25223473 )
2014
14
Analysis of the Thyroid Phenotype in 42 Patients with Pendred Syndrome and Nonsyndromic Enlargement of the Vestibular Aqueduct. ( 24224479 )
2014
15
Goiter and hearing impairment: A case of a male patient with Pendred syndrome. ( 25295090 )
2014
16
Pathogenic substitution of IVS15 + 5G > A in SLC26A4 in patients of Okinawa Islands with enlarged vestibular aqueduct syndrome or Pendred syndrome. ( 23705809 )
2013
17
Compound Heterozygosity for Two Novel SLC26A4 Mutations in a Large Iranian Pedigree with Pendred Syndrome. ( 24353858 )
2013
18
Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in Pendred syndrome/enlarged vestibular aqueducts. ( 23965030 )
2013
19
CT-Scans of Cochlear Implant Patients with Characteristics of Pendred Syndrome. ( 24429823 )
2013
20
A Novel mutation in the SLC26A4 gene in a Chinese family with Pendred syndrome. ( 23838540 )
2013
21
Papillary thyroid carcinoma in one of identical twin patients with Pendred syndrome. ( 23459462 )
2013
22
Pendred syndrome with retrosternal goitre- a rare case report. ( 24426607 )
2013
23
A novel insertion-induced frameshift mutation of the SLC26A4 gene in a Korean family with Pendred syndrome. ( 22884721 )
2012
24
Segregation of a new mutation in SLC26A4 and p.E47X mutation in GJB2 within a consanguineous Tunisian family affected with Pendred syndrome. ( 22429511 )
2012
25
Molecular and functional studies of 4 candidate loci in Pendred syndrome and nonsyndromic hearing loss. ( 22285650 )
2012
26
Novel heterozygous mutation c.662_663insG compound with IVS7-2A>G mutation in SLC26A4 gene in a Chinese family with Pendred syndrome. ( 22906308 )
2012
27
An unfortunate case of Pendred syndrome. ( 21745434 )
2011
28
Mutation analysis of SLC26A4 for Pendred syndrome and nonsyndromic hearing loss by high-resolution melting. ( 21704276 )
2011
29
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
30
Cochlear implantation in Pendred syndrome. ( 21917203 )
2011
31
Clinical and molecular characteristics of Pendred syndrome. ( 21511235 )
2011
32
Life-threatening metabolic alkalosis in Pendred syndrome. ( 21551164 )
2011
33
Pendred syndrome in Tunisia. ( 20822748 )
2010
34
Genetics and phenomics of Pendred syndrome. ( 20298745 )
2010
35
Congenital goitrous hypothyroidism, deafness and iodide organification defect in four siblings: Pendred or pseudo-Pendred syndrome? ( 21274344 )
2010
36
Novel human pathological mutations. Gene symbol: SLC26A4. Disease: Pendred syndrome. ( 21488234 )
2010
37
A patient with Pendred syndrome whose goiter progressed with normal serum thyrotropin and iodine organification. ( 20583162 )
2010
38
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
39
Do mutations of the Pendred syndrome gene, SLC26A4, confer resistance to asthma and hypertension? ( 19289392 )
2009
40
Functional characterization of wild-type and mutated pendrin (SLC26A4), the anion transporter involved in Pendred syndrome. ( 19608655 )
2009
41
Genetic causes of goiter and deafness: Pendred syndrome in a girl and cooccurrence of Pendred syndrome and resistance to thyroid hormone in her sister. ( 19318451 )
2009
42
Phenotypes of SLC26A4 gene mutations: Pendred syndrome and hypoacusis with enlarged vestibular aqueduct. ( 18283249 )
2008
43
Pendred syndrome in a large consanguineous Brazilian family caused by a homozygous mutation in the SLC26A4 gene. ( 19169484 )
2008
44
Free radical stress-mediated loss of Kcnj10 protein expression in stria vascularis contributes to deafness in Pendred syndrome mouse model. ( 17959752 )
2008
45
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
46
Thyroidectomy in a patient with multinodular dyshormonogenetic goitre--a case of Pendred syndrome confirmed by mutations in the PDS/SLC26A4 gene. ( 19189692 )
2008
47
Pendred syndrome among patients with congenital hypothyroidism detected by neonatal screening: identification of two novel PDS/SLC26A4 mutations. ( 17876604 )
2008
48
Goitre and hearing impairment in a patient with Pendred syndrome. ( 18349467 )
2008
49
Profound hypokalemia and hypochloremic metabolic alkalosis during thiazide therapy in a child with Pendred syndrome. ( 18538122 )
2008
50
Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA. ( 19017801 )
2008
51
Pendred syndrome and iodide transport in the thyroid. ( 18692402 )
2008
52
Pendred syndrome in two Galician families: insights into clinical phenotypes through cellular, genetic, and molecular studies. ( 17940114 )
2008
53
Analysis of the SLC26A4 gene in patients with Pendred syndrome in Taiwan. ( 17697873 )
2007
54
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
55
Two common and three novel PDS mutations in Thai patients with Pendred syndrome. ( 18250610 )
2007
56
Comparison of MRI findings with traditional criteria in diagnosis of Pendred syndrome. ( 17365057 )
2007
57
Loss of cochlear HCO3- secretion causes deafness via endolymphatic acidification and inhibition of Ca2+ reabsorption in a Pendred syndrome mouse model. ( 17299139 )
2007
58
Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4). ( 17503324 )
2007
59
Localized attachment loss in Pendred syndrome: incidental? ( 17470031 )
2007
60
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
61
Macrophage invasion contributes to degeneration of stria vascularis in Pendred syndrome mouse model. ( 17187680 )
2006
62
Sensori-neural deafness and hypothyroidism: autoimmunity causing 'pseudo-Pendred syndrome'. ( 16582570 )
2006
63
Functional characterization of wild-type and a mutated form of SLC26A4 identified in a patient with Pendred syndrome. ( 16791000 )
2006
64
The H723R mutation in the PDS/SLC26A4 gene is associated with typical Pendred syndrome in Korean patients. ( 17322586 )
2006
65
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
66
Long-term follow-up in patients with Pendred syndrome: vestibular, auditory and other phenotypes. ( 15747138 )
2005
67
Pendred syndrome: study of three families. ( 16482981 )
2005
68
CT of the ear in Pendred syndrome. ( 15758191 )
2005
69
A pedigree with Pendred syndrome: case report and discussion on hereditary hearing loss. ( 15513511 )
2004
70
Enlarged endolymphatic duct and sac syndrome: relationship between MR findings and genotype of mutation in Pendred syndrome gene. ( 14972391 )
2004
71
Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations. ( 14679580 )
2004
72
Intrafamilial variability of the deafness and goiter phenotype in Pendred syndrome caused by a T416P mutation in the SLC26A4 gene. ( 15531480 )
2004
73
Loss of KCNJ10 protein expression abolishes endocochlear potential and causes deafness in Pendred syndrome mouse model. ( 15320950 )
2004
74
Follicular carcinoma thyroid in Pendred syndrome. ( 15530279 )
2004
75
Unilateral corneal anaesthesia and ulceration following squint surgery in a child with Pendred syndrome and bilateral sixth nerve palsy. ( 12928303 )
2003
76
Neuro-otological findings in Pendred syndrome. ( 12641391 )
2003
77
Localization and functional studies of pendrin in the mouse inner ear provide insight about the etiology of deafness in pendred syndrome. ( 14690057 )
2003
78
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. ( 14508505 )
2003
79
Syndromic and non-syndromic deafness, molecular aspects of Pendred syndrome and its reported mutations. ( 14727345 )
2003
80
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
81
Pendred syndrome. ( 16444159 )
2003
82
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
83
Hypermethylation of the Pendred syndrome gene SLC26A4 is an early event in thyroid tumorigenesis. ( 12727855 )
2003
84
Retention of pendrin in the endoplasmic reticulum is a major mechanism for Pendred syndrome. ( 12354788 )
2002
85
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
86
Differential diagnosis between Pendred and pseudo-Pendred syndromes: clinical, radiologic, and molecular studies. ( 11919333 )
2002
87
Expression of PDS/Pds, the Pendred syndrome gene, in endometrium. ( 11836344 )
2002
88
Pendred syndrome redefined. Report of a new family with fluctuating and progressive hearing loss. ( 12408075 )
2002
89
Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations. ( 11317356 )
2001
90
Na(+)/I(-) symporter and Pendred syndrome gene and protein expressions in human extra-thyroidal tissues. ( 11248751 )
2001
91
Fluctuant, progressive hearing loss associated with MeniA"re like vertigo in three patients with the Pendred syndrome. ( 11700190 )
2001
92
Targeted disruption of mouse Pds provides insight about the inner-ear defects encountered in Pendred syndrome. ( 11152663 )
2001
93
Long-term audiological feature in Pendred syndrome caused by PDS mutation. ( 11405873 )
2001
94
Phenotypes associated with replacement of His by Arg in the Pendred syndrome gene. ( 11720893 )
2001
95
Pendrin, encoded by the Pendred syndrome gene, resides in the apical region of renal intercalated cells and mediates bicarbonate secretion. ( 11274445 )
2001
96
Mutations of the Pendred syndrome gene (PDS) in patients with large vestibular aqueduct. ( 11603758 )
2000
97
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
98
The PDS gene, Pendred syndrome and non-syndromic deafness DFNB4. ( 10868226 )
2000
99
Pendred syndrome: phenotypic variability in two families carrying the same PDS missense mutation. ( 10602116 )
2000
100
Enlarged vestibular aqueduct: a radiological marker of Pendred syndrome, and mutation of the PDS gene. ( 10700480 )
2000
101
Expression of pendrin and the Pendred syndrome (PDS) gene in human thyroid tissues. ( 10843192 )
2000
102
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
103
Expression of Na+/I- symporter and Pendred syndrome genes in trophoblast cells. ( 11095481 )
2000
104
Concurrence of Pendred syndrome, autoimmune thyroiditis, and simple goiter in one family. ( 10443670 )
1999
105
Prevalence, age of onset, and natural history of thyroid disease in Pendred syndrome. ( 10465108 )
1999
106
Splice-site mutation in the PDS gene may result in intrafamilial variability for deafness in Pendred syndrome. ( 10571950 )
1999
107
Sulfate transport is not impaired in pendred syndrome thyrocytes. ( 10404839 )
1999
108
The Pendred syndrome gene encodes a chloride-iodide transport protein. ( 10192399 )
1999
109
Histopathological findings suggest the diagnosis in an atypical case of Pendred syndrome. ( 10607000 )
1999
110
Identification of two different mutations in the PDS gene in an inbred family with Pendred syndrome. ( 10874637 )
1999
111
Further refinement of Pendred syndrome locus by homozygosity analysis to a 0.8 cM interval flanked by D7S496 and D7S2425. ( 9541103 )
1998
112
Progressive sensorineural hearing loss and a widened vestibular aqueduct in Pendred syndrome. ( 9604973 )
1998
113
Radiological malformations of the ear in Pendred syndrome. ( 9585042 )
1998
114
Molecular analysis of the PDS gene in Pendred syndrome (sensorineural hearing loss and goitre). ( 9618167 )
1998
115
Townes-Brocks and Pendred syndrome in the same patient. ( 9600745 )
1998
116
Two frequent missense mutations in Pendred syndrome. ( 9618166 )
1998
117
Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). ( 9398842 )
1997
118
Pendred syndrome: evidence for genetic homogeneity and further refinement of linkage. ( 9039988 )
1997
119
Pendred syndrome--100 years of underascertainment? ( 9302427 )
1997
120
The gene for Pendred syndrome is located between D7S501 and D7S692 in a 1.7-cM region on chromosome 7q. ( 9070918 )
1997
121
Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4. ( 8630497 )
1996
122
Pendred syndrome maps to chromosome 7q21-34 and is caused by an intrinsic defect in thyroid iodine organification. ( 8630498 )
1996
123
Pendred syndrome. ( 9004139 )
1996
124
The association of thyroid dyshormonogenesis and deafness (Pendred syndrome): experience of the Victorian Neonatal Thyroid Screening Programme. ( 1389454 )
1992
125
A patient with dup(10p)del(8q) and Pendred syndrome. ( 3717206 )
1986
126
Probable Pendred syndrome on Goodenough Island. ( 6937026 )
1980
127
Pendred syndrome (hereditary goiter and deafness). ( 5173174 )
1971
128
Thyroid function in a family with the Pendred syndrome. ( 4307394 )
1969

Variations for Pendred Syndrome

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

71 (showing 43, show less)
id Symbol AA change Variation ID SNP ID
1 SLC26A4 p.Gly209Val VAR_007440 rs111033303
2 SLC26A4 p.Leu236Pro VAR_007441 rs80338848
3 SLC26A4 p.Glu384Gly VAR_007444 rs111033244
4 SLC26A4 p.Thr416Pro VAR_007445 rs28939086
5 SLC26A4 p.Phe667Cys VAR_007447 rs121908360
6 SLC26A4 p.Thr721Met VAR_007448 rs121908363
7 SLC26A4 p.His723Arg VAR_007449 rs121908362
8 SLC26A4 p.Thr193Ile VAR_011623 rs111033348
9 SLC26A4 p.Leu445Trp VAR_011624 rs111033307
10 SLC26A4 p.Ser28Arg VAR_021639 rs539699299
11 SLC26A4 p.Glu29Gln VAR_021640 rs111033205
12 SLC26A4 p.Tyr78Cys VAR_021641
13 SLC26A4 p.Gly102Arg VAR_021643
14 SLC26A4 p.Tyr105Cys VAR_021645
15 SLC26A4 p.Ala106Asp VAR_021646
16 SLC26A4 p.Leu117Phe VAR_021647 rs145254330
17 SLC26A4 p.Ser133Thr VAR_021649 rs121908365
18 SLC26A4 p.Ser137Pro VAR_021650
19 SLC26A4 p.Val138Phe VAR_021651 rs111033199
20 SLC26A4 p.Gly139Ala VAR_021652
21 SLC26A4 p.Val239Asp VAR_021653 rs111033256
22 SLC26A4 p.Asp271His VAR_021655
23 SLC26A4 p.Phe335Leu VAR_021656 rs111033212
24 SLC26A4 p.Ser391Asn VAR_021657
25 SLC26A4 p.Arg409His VAR_021659 rs111033305
26 SLC26A4 p.Thr410Met VAR_021661 rs111033220
27 SLC26A4 p.Ala411Pro VAR_021662
28 SLC26A4 p.Gln446Arg VAR_021665 rs768471577
29 SLC26A4 p.Val480Asp VAR_021668
30 SLC26A4 p.Tyr530His VAR_021670 rs111033254
31 SLC26A4 p.Ser552Ile VAR_021671
32 SLC26A4 p.Tyr556Cys VAR_021672 rs763006761
33 SLC26A4 p.Tyr556His VAR_021673
34 SLC26A4 p.Cys565Tyr VAR_021674 rs111033257
35 SLC26A4 p.Val653Ala VAR_021676
36 SLC26A4 p.Gly672Glu VAR_021677 rs111033309
37 SLC26A4 p.Ser694Pro VAR_021680
38 SLC26A4 p.Asp724Asn VAR_021681
39 SLC26A4 p.Thr508Asn VAR_027240
40 SLC26A4 p.Gln514Arg VAR_027241 rs111033316
41 SLC26A4 p.Tyr530Ser VAR_027242 rs747636919
42 SLC26A4 p.Val402Met VAR_058580 rs397516414
43 SLC26A4 p.Met775Thr VAR_058581

ClinVar genetic disease variations for Pendred Syndrome:

6 (showing 121, show less)
id Gene Variation Type Significance SNP ID Assembly Location
1 SLC26A4 NM_000441.1(SLC26A4): c.2000T> G (p.Phe667Cys) single nucleotide variant Pathogenic rs121908360 GRCh37 Chromosome 7, 107342468: 107342468
2 SLC26A4 SLC26A4, 1-BP DEL, 1565G deletion Pathogenic
3 SLC26A4 SLC26A4, 1-BP DEL, 1421T deletion Pathogenic
4 SLC26A4 NM_000441.1(SLC26A4): c.1489G> A (p.Gly497Ser) single nucleotide variant Pathogenic/Likely pathogenic rs111033308 GRCh37 Chromosome 7, 107336429: 107336429
5 SLC26A4 NM_000441.1(SLC26A4): c.707T> C (p.Leu236Pro) single nucleotide variant Pathogenic rs80338848 GRCh37 Chromosome 7, 107315496: 107315496
6 SLC26A4 NM_000441.1(SLC26A4): c.1246A> C (p.Thr416Pro) single nucleotide variant Pathogenic rs28939086 GRCh37 Chromosome 7, 107330665: 107330665
7 SLC26A4 NM_000441.1(SLC26A4): c.1001+1G> A single nucleotide variant Pathogenic rs80338849 GRCh37 Chromosome 7, 107323983: 107323983
8 SLC26A4 NM_000441.1(SLC26A4): c.1151A> G (p.Glu384Gly) single nucleotide variant Pathogenic rs111033244 GRCh37 Chromosome 7, 107330570: 107330570
9 SLC26A4 NM_000441.1(SLC26A4): c.626G> T (p.Gly209Val) single nucleotide variant Pathogenic rs111033303 GRCh37 Chromosome 7, 107315415: 107315415
10 SLC26A4 NM_000441.1(SLC26A4): c.2168A> G (p.His723Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121908362 GRCh37 Chromosome 7, 107350577: 107350577
11 SLC26A4 NM_000441.1(SLC26A4): c.2162C> T (p.Thr721Met) single nucleotide variant Pathogenic/Likely pathogenic rs121908363 GRCh37 Chromosome 7, 107350571: 107350571
12 SLC26A4 SLC26A4, 1-BP DEL, 279T deletion Pathogenic
13 SLC26A4 SLC26A4, IVS4DS, A-G, +7 single nucleotide variant Pathogenic
14 SLC26A4 NM_000441.1(SLC26A4): c.1334T> G (p.Leu445Trp) single nucleotide variant Pathogenic rs111033307 GRCh37 Chromosome 7, 107334918: 107334918
15 SLC26A4 NM_000441.1(SLC26A4): c.578C> T (p.Thr193Ile) single nucleotide variant Pathogenic rs111033348 GRCh37 Chromosome 7, 107314771: 107314771
16 SLC26A4 SLC26A4, 1-BP DEL, 1197T deletion Pathogenic
17 SLC26A4 SLC26A4, 1-BP INS, 2182G insertion Pathogenic
18 SLC26A4 SLC26A4, IVS8, C-G, 1002-4 single nucleotide variant Pathogenic
19 SLC26A4 NM_000441.1(SLC26A4): c.397T> A (p.Ser133Thr) single nucleotide variant Pathogenic rs121908365 GRCh37 Chromosome 7, 107312675: 107312675
20 SLC26A4 NM_000441.1(SLC26A4): c.412G> T (p.Val138Phe) single nucleotide variant Pathogenic rs111033199 GRCh37 Chromosome 7, 107312690: 107312690
21 SLC26A4 NM_000441.1(SLC26A4): c.1588T> C (p.Tyr530His) single nucleotide variant Pathogenic/Likely pathogenic rs111033254 GRCh37 Chromosome 7, 107338530: 107338530
22 SLC26A4 NM_000441.1(SLC26A4): c.85G> C (p.Glu29Gln) single nucleotide variant Pathogenic/Likely pathogenic rs111033205 GRCh37 Chromosome 7, 107302171: 107302171
23 SLC26A4 NM_000441.1(SLC26A4): c.919-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs111033313 GRCh37 Chromosome 7, 107323898: 107323898
24 FOXI1 NM_012188.4(FOXI1): c.800G> A (p.Arg267Gln) single nucleotide variant Pathogenic rs121909341 GRCh37 Chromosome 5, 169535278: 169535278
25 SLC26A4 NM_000441.1(SLC26A4): c.-3-2A> G single nucleotide variant Pathogenic rs397516411 GRCh37 Chromosome 7, 107302082: 107302082
26 SLC26A4 NM_000441.1(SLC26A4): c.1149+3A> G single nucleotide variant Pathogenic rs111033314 GRCh37 Chromosome 7, 107329648: 107329648
27 SLC26A4 NM_000441.1(SLC26A4): c.1198delT (p.Cys400Valfs) deletion Pathogenic/Likely pathogenic rs397516413 GRCh37 Chromosome 7, 107330617: 107330617
28 SLC26A4 NM_000441.1(SLC26A4): c.1226G> A (p.Arg409His) single nucleotide variant Pathogenic rs111033305 GRCh37 Chromosome 7, 107330645: 107330645
29 SLC26A4 NM_000441.1(SLC26A4): c.1226G> C (p.Arg409Pro) single nucleotide variant Likely pathogenic rs111033305 GRCh37 Chromosome 7, 107330645: 107330645
30 SLC26A4 NM_000441.1(SLC26A4): c.1229C> T (p.Thr410Met) single nucleotide variant Pathogenic rs111033220 GRCh37 Chromosome 7, 107330648: 107330648
31 SLC26A4 NM_000441.1(SLC26A4): c.1264-1G> C single nucleotide variant Pathogenic/Likely pathogenic rs111033311 GRCh37 Chromosome 7, 107334847: 107334847
32 SLC26A4 NM_000441.1(SLC26A4): c.1284_1286delTGC (p.Ala429del) deletion Pathogenic/Likely pathogenic rs111033306 GRCh37 Chromosome 7, 107334868: 107334870
33 SLC26A4 NM_000441.1(SLC26A4): c.1336C> T (p.Gln446Ter) single nucleotide variant Pathogenic/Likely pathogenic rs397516416 GRCh37 Chromosome 7, 107334920: 107334920
34 SLC26A4 NM_000441.1(SLC26A4): c.1341+1delG (p.Lys447Asnfs) deletion Pathogenic rs397516417 GRCh37 Chromosome 7, 107334926: 107334926
35 SLC26A4 NM_000441.1(SLC26A4): c.1342-2_1343dupAGTC duplication Pathogenic rs111033407 GRCh37 Chromosome 7, 107335064: 107335067
36 SLC26A4 NM_000441.1(SLC26A4): c.1437+2T> G single nucleotide variant Pathogenic/Likely pathogenic rs397516418 GRCh37 Chromosome 7, 107335163: 107335163
37 SLC26A4 NM_000441.1(SLC26A4): c.1541A> G (p.Gln514Arg) single nucleotide variant Pathogenic/Likely pathogenic rs111033316 GRCh37 Chromosome 7, 107336481: 107336481
38 SLC26A4 NM_000441.1(SLC26A4): c.1548_1549insC (p.Ser517Leufs) insertion Likely pathogenic rs111033317 GRCh37 Chromosome 7, 107338490: 107338491
39 SLC26A4 NM_000441.1(SLC26A4): c.1614+1G> A single nucleotide variant Pathogenic rs111033312 GRCh37 Chromosome 7, 107338557: 107338557
40 SLC26A4 NM_000441.1(SLC26A4): c.164+2T> C single nucleotide variant Pathogenic rs397516420 GRCh37 Chromosome 7, 107302252: 107302252
41 SLC26A4 NM_000441.1(SLC26A4): c.1694G> A (p.Cys565Tyr) single nucleotide variant Likely pathogenic rs111033257 GRCh37 Chromosome 7, 107340607: 107340607
42 SLC26A4 NM_000441.1(SLC26A4): c.170C> G (p.Ser57Ter) single nucleotide variant Likely pathogenic rs111033200 GRCh37 Chromosome 7, 107303746: 107303746
43 SLC26A4 NM_000441.1(SLC26A4): c.1963A> G (p.Ile655Val) single nucleotide variant Likely pathogenic rs397516424 GRCh37 Chromosome 7, 107342431: 107342431
44 SLC26A4 NM_000441.1(SLC26A4): c.2015G> A (p.Gly672Glu) single nucleotide variant Pathogenic rs111033309 GRCh37 Chromosome 7, 107342483: 107342483
45 SLC26A4 NM_000441.1(SLC26A4): c.2027T> A (p.Leu676Gln) single nucleotide variant Pathogenic/Likely pathogenic rs111033318 GRCh37 Chromosome 7, 107342495: 107342495
46 SLC26A4 NM_000441.1(SLC26A4): c.2145G> T (p.Lys715Asn) single nucleotide variant Likely pathogenic rs397516427 GRCh37 Chromosome 7, 107350554: 107350554
47 SLC26A4 NM_000441.1(SLC26A4): c.2188C> T (p.Gln730Ter) single nucleotide variant Pathogenic rs397516428 GRCh37 Chromosome 7, 107350597: 107350597
48 SLC26A4 NM_000441.1(SLC26A4): c.294_298delCACGC (p.Thr99Alafs) deletion Pathogenic/Likely pathogenic rs111033241 GRCh37 Chromosome 7, 107303870: 107303874
49 SLC26A4 NM_000441.1(SLC26A4): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs111033302 GRCh37 Chromosome 7, 107302088: 107302088
50 SLC26A4 NM_000441.1(SLC26A4): c.397_398delTCinsA (p.Ser133Lysfs) indel Likely pathogenic rs111033400 GRCh37 Chromosome 7, 107312675: 107312676
51 SLC26A4 NM_000441.1(SLC26A4): c.589G> A (p.Gly197Arg) single nucleotide variant Likely pathogenic rs111033380 GRCh37 Chromosome 7, 107314782: 107314782
52 SLC26A4 NM_000441.1(SLC26A4): c.68C> A (p.Ser23Ter) single nucleotide variant Pathogenic/Likely pathogenic rs397516430 GRCh37 Chromosome 7, 107302154: 107302154
53 SLC26A4 NM_000441.1(SLC26A4): c.706C> G (p.Leu236Val) single nucleotide variant Likely pathogenic rs111033242 GRCh37 Chromosome 7, 107315495: 107315495
54 SLC26A4 NM_000441.1(SLC26A4): c.716T> A (p.Val239Asp) single nucleotide variant Pathogenic/Likely pathogenic rs111033256 GRCh37 Chromosome 7, 107315505: 107315505
55 SLC26A4 NM_000441.1(SLC26A4): c.765+2T> C single nucleotide variant Pathogenic rs397516432 GRCh37 Chromosome 7, 107315556: 107315556
56 SLC26A4 NM_000441.1(SLC26A4): c.85G> T (p.Glu29Ter) single nucleotide variant Likely pathogenic rs111033205 GRCh37 Chromosome 7, 107302171: 107302171
57 SLC26A4 NM_000441.1(SLC26A4): c.918+1G> T single nucleotide variant Likely pathogenic rs111033245 GRCh37 Chromosome 7, 107323800: 107323800
58 SLC26A4 NM_000441.1(SLC26A4): c.997_998insA (p.Arg333Lysfs) insertion Pathogenic rs431905486 GRCh37 Chromosome 7, 107323978: 107323978
59 SLC26A4 NM_000441.1(SLC26A4): c.-4+5G> A single nucleotide variant Likely pathogenic rs727503425 GRCh37 Chromosome 7, 107301305: 107301305
60 SLC26A4 NM_000441.1(SLC26A4): c.1707+6T> C single nucleotide variant Likely pathogenic rs727505230 GRCh37 Chromosome 7, 107340626: 107340626
61 SLC26A4 NM_000441.1(SLC26A4): c.2089+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs727503430 GRCh37 Chromosome 7, 107344831: 107344831
62 SLC26A4 NM_000441.1(SLC26A4): c.2215C> T (p.Gln739Ter) single nucleotide variant Pathogenic/Likely pathogenic rs727503431 GRCh37 Chromosome 7, 107350624: 107350624
63 SLC26A4 NM_000441.1(SLC26A4): c.1554G> A (p.Trp518Ter) single nucleotide variant Pathogenic rs727503428 GRCh37 Chromosome 7, 107338496: 107338496
64 SLC26A4 NM_000441.1(SLC26A4): c.1614+1G> C single nucleotide variant Pathogenic rs111033312 GRCh37 Chromosome 7, 107338557: 107338557
65 SLC26A4 NM_000441.1(SLC26A4): c.1547dupC (p.Ser517Phefs) duplication Likely pathogenic rs786204450 GRCh38 Chromosome 7, 107698044: 107698044
66 SLC26A4 NM_000441.1(SLC26A4): c.3G> C (p.Met1Ile) single nucleotide variant Likely pathogenic rs786204426 GRCh38 Chromosome 7, 107661644: 107661644
67 SLC26A4 NM_000441.1(SLC26A4): c.84C> A (p.Ser28Arg) single nucleotide variant Likely pathogenic rs539699299 GRCh38 Chromosome 7, 107661725: 107661725
68 SLC26A4 NM_000441.1(SLC26A4): c.164+1delG deletion Likely pathogenic rs786204504 GRCh38 Chromosome 7, 107661806: 107661806
69 SLC26A4 NM_000441.1(SLC26A4): c.165-2A> G single nucleotide variant Likely pathogenic rs786204458 GRCh37 Chromosome 7, 107303739: 107303739
70 SLC26A4 NM_000441.1(SLC26A4): c.235C> T (p.Arg79Ter) single nucleotide variant Likely pathogenic rs786204581 GRCh37 Chromosome 7, 107303811: 107303811
71 SLC26A4 NM_000441.1(SLC26A4): c.269C> T (p.Ser90Leu) single nucleotide variant Likely pathogenic rs370588279 GRCh38 Chromosome 7, 107663400: 107663400
72 SLC26A4 NM_000441.1(SLC26A4): c.279delT (p.Ser93Argfs) deletion Likely pathogenic rs786204421 GRCh37 Chromosome 7, 107303855: 107303855
73 SLC26A4 NM_000441.1(SLC26A4): c.304+2T> C single nucleotide variant Likely pathogenic rs746238617 GRCh37 Chromosome 7, 107303882: 107303882
74 SLC26A4 NM_000441.1(SLC26A4): c.365dupT (p.Ile124Tyrfs) duplication Likely pathogenic rs786204730 GRCh37 Chromosome 7, 107312643: 107312643
75 SLC26A4 NM_000441.1(SLC26A4): c.554G> C (p.Arg185Thr) single nucleotide variant Pathogenic/Likely pathogenic rs542620119 GRCh37 Chromosome 7, 107314747: 107314747
76 SLC26A4 NM_000441.1(SLC26A4): c.890delC (p.Pro297Glnfs) deletion Likely pathogenic rs786204600 GRCh37 Chromosome 7, 107323771: 107323771
77 SLC26A4 NM_000441.1(SLC26A4): c.1001G> T (p.Gly334Val) single nucleotide variant Pathogenic/Likely pathogenic rs146281367 GRCh37 Chromosome 7, 107323982: 107323982
78 SLC26A4 NM_000441.1(SLC26A4): c.1079C> T (p.Ala360Val) single nucleotide variant Likely pathogenic rs786204474 GRCh37 Chromosome 7, 107329575: 107329575
79 SLC26A4 NM_000441.1(SLC26A4): c.1520delT (p.Leu507Terfs) deletion Likely pathogenic rs786204601 GRCh38 Chromosome 7, 107696015: 107696015
80 SLC26A4 NM_000441.1(SLC26A4): c.1586T> G (p.Ile529Ser) single nucleotide variant Likely pathogenic rs786204739 GRCh38 Chromosome 7, 107698083: 107698083
81 SLC26A4 NM_000441.1(SLC26A4): c.1919G> A (p.Trp640Ter) single nucleotide variant Likely pathogenic rs786204502 GRCh37 Chromosome 7, 107342387: 107342387
82 SLC26A4 NM_000441.1(SLC26A4): c.1920G> A (p.Trp640Ter) single nucleotide variant Likely pathogenic rs368119540 GRCh37 Chromosome 7, 107342388: 107342388
83 SLC26A4 NM_000441.1(SLC26A4): c.1975G> C (p.Val659Leu) single nucleotide variant Likely pathogenic rs200455203 GRCh38 Chromosome 7, 107701998: 107701998
84 SLC26A4 NM_000441.1(SLC26A4): c.2086C> T (p.Gln696Ter) single nucleotide variant Likely pathogenic rs752807925 GRCh37 Chromosome 7, 107344827: 107344827
85 SLC26A4 NM_000441.1(SLC26A4): c.2127delT (p.Phe709Leufs) deletion Likely pathogenic rs786204523 GRCh37 Chromosome 7, 107350536: 107350536
86 SLC26A4 NM_000441.1(SLC26A4): c.1544+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs876657722 GRCh38 Chromosome 7, 107696040: 107696040
87 SLC26A4 NM_000441.1(SLC26A4): c.2171A> G (p.Asp724Gly) single nucleotide variant Pathogenic rs757820624 GRCh38 Chromosome 7, 107710135: 107710135
88 SLC26A4 NM_000441.1(SLC26A4): c.2224delA (p.Ile742Phefs) deletion Pathogenic rs876657723 GRCh38 Chromosome 7, 107710188: 107710188
89 SLC26A4 NM_000441.1(SLC26A4): c.1222delT (p.Ser408Profs) deletion Pathogenic rs886043058 GRCh37 Chromosome 7, 107330641: 107330641
90 SLC26A4 NM_000441.1(SLC26A4): c.382_384delTTTinsAA (p.Phe128Lysfs) indel Pathogenic rs886044696 GRCh37 Chromosome 7, 107312660: 107312662
91 SLC26A4 NM_000441.1(SLC26A4): c.55delA (p.Ser19Alafs) deletion Likely pathogenic rs1057516634 GRCh37 Chromosome 7, 107302141: 107302141
92 SLC26A4 NM_000441.1(SLC26A4): c.142G> T (p.Glu48Ter) single nucleotide variant Likely pathogenic rs201636911 GRCh37 Chromosome 7, 107302228: 107302228
93 SLC26A4 NM_000441.1(SLC26A4): c.249G> A (p.Trp83Ter) single nucleotide variant Pathogenic rs1057516658 GRCh37 Chromosome 7, 107303825: 107303825
94 SLC26A4 NM_000441.1(SLC26A4): c.281C> T (p.Thr94Ile) single nucleotide variant Pathogenic rs1057516953 GRCh37 Chromosome 7, 107303857: 107303857
95 SLC26A4 NM_000441.1(SLC26A4): c.416-1G> A single nucleotide variant Pathogenic rs1057516988 GRCh37 Chromosome 7, 107314608: 107314608
96 SLC26A4 NM_000441.1(SLC26A4): c.600+2T> A single nucleotide variant Pathogenic rs1057516881 GRCh37 Chromosome 7, 107314795: 107314795
97 SLC26A4 NM_000441.1(SLC26A4): c.619C> T (p.Gln207Ter) single nucleotide variant Likely pathogenic rs1057516678 GRCh37 Chromosome 7, 107315408: 107315408
98 SLC26A4 NM_000441.1(SLC26A4): c.858_865delGGAATTAA (p.Glu287Terfs) deletion Likely pathogenic rs1057517246 GRCh37 Chromosome 7, 107323739: 107323746
99 SLC26A4 NM_000441.1(SLC26A4): c.916dupG (p.Val306Glyfs) duplication Likely pathogenic rs1057516303 GRCh38 Chromosome 7, 107683352: 107683352
100 SLC26A4 NM_000441.1(SLC26A4): c.918+2T> C single nucleotide variant Likely pathogenic rs912147281 GRCh38 Chromosome 7, 107683356: 107683356
101 SLC26A4 NM_000441.1(SLC26A4): c.1001+1G> T single nucleotide variant Likely pathogenic rs80338849 GRCh38 Chromosome 7, 107683538: 107683538
102 SLC26A4 NM_000441.1(SLC26A4): c.1160C> T (p.Ala387Val) single nucleotide variant Likely pathogenic rs777333979 GRCh38 Chromosome 7, 107690134: 107690134
103 SLC26A4 NM_000441.1(SLC26A4): c.1173C> A (p.Ser391Arg) single nucleotide variant Likely pathogenic rs1057517042 GRCh38 Chromosome 7, 107690147: 107690147
104 SLC26A4 NM_000441.1(SLC26A4): c.1181_1183delTCT (p.Phe394del) deletion Likely pathogenic rs1057516508 GRCh37 Chromosome 7, 107330600: 107330602
105 SLC26A4 NM_000441.1(SLC26A4): c.1225C> T (p.Arg409Cys) single nucleotide variant Likely pathogenic rs147952620 GRCh37 Chromosome 7, 107330644: 107330644
106 SLC26A4 NM_000441.1(SLC26A4): c.1238A> G (p.Gln413Arg) single nucleotide variant Likely pathogenic rs142498437 GRCh38 Chromosome 7, 107690212: 107690212
107 SLC26A4 NM_000441.1(SLC26A4): c.1238delA (p.Gln413Argfs) deletion Likely pathogenic rs1057516354 GRCh37 Chromosome 7, 107330657: 107330657
108 SLC26A4 NM_000441.1(SLC26A4): c.1263+1G> A single nucleotide variant Likely pathogenic rs1057517000 GRCh37 Chromosome 7, 107330683: 107330683
109 SLC26A4 NM_000441.1(SLC26A4): c.1263+1G> T single nucleotide variant Likely pathogenic rs1057517000 GRCh37 Chromosome 7, 107330683: 107330683
110 SLC26A4 NM_000441.1(SLC26A4): c.1341+1G> C single nucleotide variant Pathogenic rs376653349 GRCh37 Chromosome 7, 107334926: 107334926
111 SLC26A4 NM_000441.1(SLC26A4): c.1342-1G> T single nucleotide variant Likely pathogenic rs1057517298 GRCh37 Chromosome 7, 107335065: 107335065
112 SLC26A4 NM_000441.1(SLC26A4): c.1438-2A> G single nucleotide variant Likely pathogenic rs1057516717 GRCh38 Chromosome 7, 107695931: 107695931
113 SLC26A4 NM_000441.1(SLC26A4): c.1539_1544+6del12 deletion Likely pathogenic rs1057516535 GRCh37 Chromosome 7, 107336479: 107336490
114 SLC26A4 NM_000441.1(SLC26A4): c.1595G> T (p.Ser532Ile) single nucleotide variant Likely pathogenic rs1057516243 GRCh38 Chromosome 7, 107698092: 107698092
115 SLC26A4 NM_000441.1(SLC26A4): c.1949T> A (p.Val650Asp) single nucleotide variant Likely pathogenic rs1057517161 GRCh38 Chromosome 7, 107701972: 107701972
116 SLC26A4 NM_000441.1(SLC26A4): c.1966delC (p.His656Ilefs) deletion Likely pathogenic rs1057516636 GRCh37 Chromosome 7, 107342434: 107342434
117 SLC26A4 NM_000441.1(SLC26A4): c.2067delT (p.Asn689Lysfs) deletion Likely pathogenic rs1057516796 GRCh37 Chromosome 7, 107344808: 107344808
118 SLC26A4 NM_000441.1(SLC26A4): c.2228T> A (p.Leu743Ter) single nucleotide variant Pathogenic rs1057517303 GRCh37 Chromosome 7, 107350637: 107350637
119 SLC26A4 NM_000441.1(SLC26A4): c.2319+1G> A single nucleotide variant Likely pathogenic rs542079779 GRCh38 Chromosome 7, 107712623: 107712623
120 SLC26A4 NM_000441.1(SLC26A4): c.1149delG (p.Glu384Asnfs) deletion Pathogenic rs1060499807 GRCh37 Chromosome 7, 107329645: 107329645
121 SLC26A4 NM_000441.1(SLC26A4): c.2048T> C (p.Phe683Ser) single nucleotide variant Pathogenic rs1060499808 GRCh37 Chromosome 7, 107344789: 107344789

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:

(showing 3, show less)
id Super pathways Score Top Affiliating Genes
1 11.59 MITF PAX3 PAX8
2
Show member pathways
11.42 DUOX2 PAX8 SLC26A4 TG TPO
3 9.73 TG TPO

GO Terms for Pendred Syndrome

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

(showing 4, show less)
id Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.85 AQP2 DUOX2 GJB2 KCNJ10 SLC12A3 SLC26A2
2 basolateral plasma membrane GO:0016323 9.43 AQP2 KCNJ10 SLC26A5
3 apical plasma membrane GO:0016324 9.35 AQP2 DUOX2 SLC12A3 SLC26A3 SLC26A4
4 integral component of plasma membrane GO:0005887 9.23 AQP2 KCNJ10 SLC12A3 SLC26A2 SLC26A3 SLC26A4

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

(showing 20, show less)
id Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.97 KCNJ10 SLC12A3 SLC26A2 SLC26A3 SLC26A4
2 transmembrane transport GO:0055085 9.95 GJB2 SLC12A3 SLC26A2 SLC26A3 SLC26A4 SLC26A5
3 sensory perception of sound GO:0007605 9.8 GJB2 PAX3 SLC26A4 SLC26A5
4 chloride transport GO:0006821 9.72 SLC12A3 SLC26A3 SLC26A4
5 chloride transmembrane transport GO:1902476 9.72 SLC12A3 SLC26A2 SLC26A3 SLC26A4 SLC26A5
6 bicarbonate transport GO:0015701 9.71 SLC26A2 SLC26A3 SLC26A4 SLC26A5
7 anion transmembrane transport GO:0098656 9.69 SLC26A3 SLC26A4 SLC26A5
8 regulation of intracellular pH GO:0051453 9.67 SLC26A2 SLC26A3 SLC26A4 SLC26A5
9 regulation of membrane potential GO:0042391 9.65 KCNJ10 SLC26A2 SLC26A3 SLC26A4 SLC26A5
10 thyroid gland development GO:0030878 9.63 DUOX2 PAX8 TG
11 hormone biosynthetic process GO:0042446 9.61 DUOX2 TG TPO
12 response to ischemia GO:0002931 9.59 GJB2 SLC26A5
13 hydrogen peroxide catabolic process GO:0042744 9.58 DUOX2 TPO
14 thyroid hormone generation GO:0006590 9.56 DUOX2 TPO
15 thyroid hormone metabolic process GO:0042403 9.54 DUOX2 TG
16 iodide transport GO:0015705 9.52 SLC26A4 TG
17 sulfate transport GO:0008272 9.46 SLC26A2 SLC26A3 SLC26A4 SLC26A5
18 sulfate transmembrane transport GO:1902358 9.26 SLC26A2 SLC26A3 SLC26A4 SLC26A5
19 oxalate transport GO:0019532 8.92 SLC26A2 SLC26A3 SLC26A4 SLC26A5
20 transport GO:0006810 10.13 AQP2 GJB2 KCNJ10 SLC12A3 SLC26A2 SLC26A3

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

(showing 9, show less)
id Name GO ID Score Top Affiliating Genes
1 chloride channel activity GO:0005254 9.67 SLC26A2 SLC26A3 SLC26A4 SLC26A5
2 transporter activity GO:0005215 9.63 AQP2 SLC12A3 SLC26A3
3 anion:anion antiporter activity GO:0015301 9.62 SLC26A2 SLC26A3 SLC26A4 SLC26A5
4 bicarbonate transmembrane transporter activity GO:0015106 9.56 SLC26A2 SLC26A3 SLC26A4 SLC26A5
5 sulfate transmembrane transporter activity GO:0015116 9.46 SLC26A2 SLC26A3 SLC26A4 SLC26A5
6 peroxidase activity GO:0004601 9.43 DUOX2 TPO
7 chloride transmembrane transporter activity GO:0015108 9.4 SLC26A3 SLC26A4
8 secondary active sulfate transmembrane transporter activity GO:0008271 9.26 SLC26A2 SLC26A3 SLC26A4 SLC26A5
9 oxalate transmembrane transporter activity GO:0019531 8.92 SLC26A2 SLC26A3 SLC26A4 SLC26A5

Sources for Pendred Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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