MCID: PND002
MIFTS: 55

Pendred Syndrome

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

Aliases & Classifications for Pendred Syndrome

MalaCards integrated aliases for Pendred Syndrome:

Name: Pendred Syndrome 53 12 72 72 49 24 55 71 13 51 41 14
Goiter-Deafness Syndrome 53 12 49 24 55 71
Deafness with Goiter 53 12 49 24 71
Thyroid Dyshormonogenesis 2b 53 12 71
Pendred's Syndrome 24 28 69
Tdh2b 53 12 71
Pds 53 49 71
Autosomal Recessive Sensorineural Hearing Impairment, Enlarged Vestibular Aqueduct, and Goiter 24
Autosomal Recessive Sensorineural Hearing Impairment and Goiter 49
Hypothyroidism, Congenital, Due to Dyshormonogenesis, 2b 53
Congenital Hypothyroidism Due to Dyshormonogenesis 2b 12
Thyroid Hormonogenesis, Genetic Defect in, 2b 53
Genetic Defect in Thyroid Hormonogenesis 2b 12
Thyroid Dyshormonogenesis 2b; Tdh2b 53

Characteristics:

Orphanet epidemiological data:

55
pendred syndrome
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

53
Miscellaneous:
thyroid carcinoma

Inheritance:
autosomal recessive


HPO:

31
pendred syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 274600
Disease Ontology 12 DOID:0060744
ICD10 32 E07.1
Orphanet 55 ORPHA705
MESH via Orphanet 42 C536648
UMLS via Orphanet 70 C0271829
ICD10 via Orphanet 33 E07.1
MedGen 39 C0271829
UMLS 69 C0271829

Summaries for Pendred Syndrome

NIH Rare Diseases : 49 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 sensorineural hearing loss and hashimoto thyroiditis, and has symptoms including ataxia, vertigo and hypothyroidism. An important gene associated with Pendred Syndrome is SLC26A4 (Solute Carrier Family 26 Member 4), and among its related pathways/superpathways are Aldosterone synthesis and secretion and Thyroxine (Thyroid Hormone) Production. Affiliated tissues include thyroid, and related phenotypes are growth/size/body region and homeostasis/metabolism

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.

Genetics Home Reference : 24 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 : 53 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 : 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.

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 82)
# Related Disease Score Top Affiliating Genes
1 sensorineural hearing loss 30.3 GJB2 MITF SLC26A4
2 hashimoto thyroiditis 30.1 SLC26A4 TG TPO
3 nonsyndromic deafness 29.8 FOXI1 GJB2 MITF SLC26A4
4 thyroid cancer, nonmedullary, 1 29.7 PAX8 TG TPO
5 familial thyroid dyshormonogenesis 29.5 DUOX2 TG TPO
6 goiter 29.4 DUOX2 PAX8 SLC26A4 TG TPO
7 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 29.4 FOXI1 GJB2 KCNJ10 SLC26A2 SLC26A4 SLC26A5
8 hypothyroidism 29.1 DUOX2 PAX8 SLC26A4 TG TPO
9 congenital hypothyroidism 28.9 DUOX2 PAX8 TG TPO
10 parkinson disease, late-onset 12.1
11 pendred syndrome/nonsyndromic enlarged vestibular aqueduct 11.9
12 glaucoma-related pigment dispersion syndrome 11.6
13 prolidase deficiency 11.6
14 multiple system atrophy 1 11.1
15 personality disorder 11.1
16 corticobasal degeneration 11.1
17 ehlers-danlos syndrome, spondylodysplastic type, 1 11.0
18 spondylodysplastic ehlers-danlos syndrome 11.0
19 mohr-tranebjaerg syndrome 11.0
20 parkinson disease 19a, juvenile-onset 10.9
21 subacute lymphocytic thyroiditis 10.5 TG TPO
22 hodgkin's lymphoma, nodular sclerosis 10.5 GJB2 SLC26A4
23 goiter, multinodular 1, with or without sertoli-leydig cell tumors 10.5 TG TPO
24 deafness, autosomal recessive 26 10.5 GJB2 SLC26A4
25 deafness, autosomal dominant 36 10.5 GJB2 SLC26A4
26 deafness, autosomal recessive 23 10.5 GJB2 SLC26A4
27 endemic goiter 10.5 TG TPO
28 plummer's disease 10.4 TG TPO
29 premature menopause 10.4 TG TPO
30 graves disease 1 10.4 TG TPO
31 hypothyroidism, congenital, nongoitrous, 4 10.4 TG TPO
32 cochlear disease 10.4 MITF SLC26A4
33 myxedema 10.4 TG TPO
34 mutism 10.4 GJB2 MITF
35 thyroiditis 10.4
36 nontoxic goiter 10.4 TG TPO
37 subacute thyroiditis 10.4 TG TPO
38 branchiootic syndrome 1 10.4
39 pernicious anemia 10.4 TG TPO
40 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 10.3 TG TPO
41 inner ear disease 10.3 FOXI1 GJB2 SLC26A4
42 toxic diffuse goiter 10.3 TG TPO
43 mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma 10.3 GJB2 MITF
44 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
45 water-clear cell adenoma 10.3 PAX8 TG
46 thyroid cancer, anaplastic 10.3 PAX8 TG
47 deafness, autosomal recessive 16 10.3 GJB2 SLC26A4
48 deafness, autosomal recessive 30 10.3 GJB2 SLC26A4
49 peripheral vertigo 10.2 AQP2 SLC26A4
50 pycnodysostosis 10.2 MITF SLC26A2

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:

53
Head And Neck Neck:
goiter

Endocrine Features:
euthyroid
hypothyroid
compensated hypothyroidism

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

Laboratory Abnormalities:
thyroid hormone organification defect


Clinical features from OMIM:

274600

Human phenotypes related to Pendred Syndrome:

55 31 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001251
2 vertigo 55 31 occasional (7.5%) Occasional (29-5%) HP:0002321
3 hypothyroidism 55 31 frequent (33%) Frequent (79-30%) HP:0000821
4 intellectual disability 55 31 occasional (7.5%) Occasional (29-5%) HP:0001249
5 respiratory insufficiency 55 31 occasional (7.5%) Occasional (29-5%) HP:0002093
6 neurological speech impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0002167
7 sensorineural hearing impairment 55 31 hallmark (90%) Very frequent (99-80%) HP:0000407
8 nephropathy 55 31 occasional (7.5%) Occasional (29-5%) HP:0000112
9 goiter 55 31 frequent (33%) Frequent (79-30%) HP:0000853
10 hyperparathyroidism 55 31 occasional (7.5%) Occasional (29-5%) HP:0000843
11 tracheal stenosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002777
12 hypoplasia of the cochlea 55 31 hallmark (90%) Very frequent (99-80%) HP:0008586
13 thyroid carcinoma 55 31 occasional (7.5%) Occasional (29-5%) HP:0002890
14 enlarged vestibular aqueduct 55 31 hallmark (90%) Very frequent (99-80%) HP:0011387
15 abnormality of metabolism/homeostasis 31 HP:0001939
16 congenital sensorineural hearing impairment 31 HP:0008527
17 abnormality of the inner ear 55 Very frequent (99-80%)
18 vestibular dysfunction 31 HP:0001751
19 cochlear malformation 31 HP:0008554
20 compensated hypothyroidism 31 HP:0008223

MGI Mouse Phenotypes related to Pendred Syndrome:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.21 PAX8 PTPRJ SLC26A2 SLC26A3 SLC26A5 TG
2 homeostasis/metabolism MP:0005376 10.18 AQP2 DUOX2 FOXI1 GJB2 KCNJ10 MITF
3 hearing/vestibular/ear MP:0005377 10.06 DUOX2 FOXI1 GJB2 KCNJ10 MITF PAX8
4 mortality/aging MP:0010768 10.02 AQP2 FOXI1 GJB2 KCNJ10 MITF PAX8
5 endocrine/exocrine gland MP:0005379 10 PAX8 SLC26A3 SLC26A4 TG TPO DUOX2
6 craniofacial MP:0005382 9.95 FOXI1 GJB2 MITF PAX8 SLC26A2 TPO
7 nervous system MP:0003631 9.91 DUOX2 FOXI1 GJB2 KCNJ10 MITF PAX8
8 renal/urinary system MP:0005367 9.63 AQP2 FOXI1 KCNJ10 PAX8 SLC12A3 SLC26A4
9 reproductive system MP:0005389 9.56 AQP2 DUOX2 FOXI1 GJB2 MITF PAX8
10 skeleton MP:0005390 9.23 DUOX2 FOXI1 GJB2 MITF PAX8 SLC26A2

Drugs & Therapeutics for Pendred Syndrome

Interventional clinical trials:


# 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:

# Genetic test Affiliating Genes
1 Pendred's Syndrome 28 FOXI1 KCNJ10 SLC26A4

Anatomical Context for Pendred Syndrome

MalaCards organs/tissues related to Pendred Syndrome:

38
Thyroid

Publications for Pendred Syndrome

Articles related to Pendred Syndrome:

(show top 50) (show all 128)
# 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
[The clinical definition and etiology of Pendred syndrome (a review of the literature and clinical observations)]. ( 28091472 )
2016
5
Delayed diagnosis of Pendred syndrome. ( 27620717 )
2016
6
Cochlear implantation in Pendred syndrome and non-syndromic enlarged vestibular aqueduct - clinical challenges, surgical results, and complications. ( 27241825 )
2016
7
Pendred Syndrome in a Newborn with Neck Swelling: A Case Report. ( 26936928 )
2016
8
Patients with Pendred syndrome:is cochlear implantation beneficial? ( 26331303 )
2015
9
Goiter and hearing impairment: A case of a male patient with Pendred syndrome. ( 25295090 )
2014
10
Bipolar disorder in Pendred syndrome: a case report of two siblings. ( 24595510 )
2014
11
Analysis of the Thyroid Phenotype in 42 Patients with Pendred Syndrome and Nonsyndromic Enlargement of the Vestibular Aqueduct. ( 24224479 )
2014
12
Identification of a founder mutation for Pendred syndrome in families from northwest Iran. ( 25239229 )
2014
13
Evaluation of genotype-phenotype relationships in patients referred for endocrine assessment in suspected Pendred syndrome. ( 25394566 )
2014
14
A1555G homoplasmic mutation from A1555G heteroplasmic mother with Pendred syndrome. ( 25223473 )
2014
15
Mutations in the Pendred Syndrome (PDS/SLC26A) Gene: An Increasingly Complex Phenotypic Spectrum From Goiter to Thyroid Hypoplasia. ( 24384016 )
2014
16
Pendred syndrome with retrosternal goitre- a rare case report. ( 24426607 )
2013
17
Pathogenic substitution of IVS15 + 5G > A in SLC26A4 in patients of Okinawa Islands with enlarged vestibular aqueduct syndrome or Pendred syndrome. ( 23705809 )
2013
18
CT-Scans of Cochlear Implant Patients with Characteristics of Pendred Syndrome. ( 24429823 )
2013
19
Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in Pendred syndrome/enlarged vestibular aqueducts. ( 23965030 )
2013
20
Compound Heterozygosity for Two Novel SLC26A4 Mutations in a Large Iranian Pedigree with Pendred Syndrome. ( 24353858 )
2013
21
A Novel mutation in the SLC26A4 gene in a Chinese family with Pendred syndrome. ( 23838540 )
2013
22
Papillary thyroid carcinoma in one of identical twin patients with Pendred syndrome. ( 23459462 )
2013
23
Molecular and functional studies of 4 candidate loci in Pendred syndrome and nonsyndromic hearing loss. ( 22285650 )
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
Novel heterozygous mutation c.662_663insG compound with IVS7-2A>G mutation in SLC26A4 gene in a Chinese family with Pendred syndrome. ( 22906308 )
2012
26
A novel insertion-induced frameshift mutation of the SLC26A4 gene in a Korean family with Pendred syndrome. ( 22884721 )
2012
27
Life-threatening metabolic alkalosis in Pendred syndrome. ( 21551164 )
2011
28
Clinical and molecular characteristics of Pendred syndrome. ( 21511235 )
2011
29
Cochlear implantation in Pendred syndrome. ( 21917203 )
2011
30
An unfortunate case of Pendred syndrome. ( 21745434 )
2011
31
Mutation analysis of SLC26A4 for Pendred syndrome and nonsyndromic hearing loss by high-resolution melting. ( 21704276 )
2011
32
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
33
Novel human pathological mutations. Gene symbol: SLC26A4. Disease: Pendred syndrome. ( 21488234 )
2010
34
Pendred syndrome in Tunisia. ( 20822748 )
2010
35
Congenital goitrous hypothyroidism, deafness and iodide organification defect in four siblings: Pendred or pseudo-Pendred syndrome? ( 21274344 )
2010
36
A patient with Pendred syndrome whose goiter progressed with normal serum thyrotropin and iodine organification. ( 20583162 )
2010
37
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
38
Genetics and phenomics of Pendred syndrome. ( 20298745 )
2010
39
Functional characterization of wild-type and mutated pendrin (SLC26A4), the anion transporter involved in Pendred syndrome. ( 19608655 )
2009
40
Do mutations of the Pendred syndrome gene, SLC26A4, confer resistance to asthma and hypertension? ( 19289392 )
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
Profound hypokalemia and hypochloremic metabolic alkalosis during thiazide therapy in a child with Pendred syndrome. ( 18538122 )
2008
43
Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA. ( 19017801 )
2008
44
Phenotypes of SLC26A4 gene mutations: Pendred syndrome and hypoacusis with enlarged vestibular aqueduct. ( 18283249 )
2008
45
Goitre and hearing impairment in a patient with Pendred syndrome. ( 18349467 )
2008
46
Pendred syndrome among patients with congenital hypothyroidism detected by neonatal screening: identification of two novel PDS/SLC26A4 mutations. ( 17876604 )
2008
47
Pendred syndrome in a large consanguineous Brazilian family caused by a homozygous mutation in the SLC26A4 gene. ( 19169484 )
2008
48
Pendred syndrome and iodide transport in the thyroid. ( 18692402 )
2008
49
Free radical stress-mediated loss of Kcnj10 protein expression in stria vascularis contributes to deafness in Pendred syndrome mouse model. ( 17959752 )
2008
50
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

Variations for Pendred Syndrome

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

71 (show all 43)
# 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 rs981410021
38 SLC26A4 p.Asp724Asn VAR_021681 rs994170964
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 (show top 50) (show all 119)
# Gene Variation Type Significance SNP ID Assembly Location
1 FOXI1 NM_012188.4(FOXI1): c.800G> A (p.Arg267Gln) single nucleotide variant Pathogenic rs121909341 GRCh37 Chromosome 5, 169535278: 169535278
2 SLC26A4 NM_000441.1(SLC26A4): c.-3-2A> G single nucleotide variant Pathogenic rs397516411 GRCh37 Chromosome 7, 107302082: 107302082
3 SLC26A4 NM_000441.1(SLC26A4): c.1149+3A> G single nucleotide variant Pathogenic rs111033314 GRCh37 Chromosome 7, 107329648: 107329648
4 SLC26A4 NM_000441.1(SLC26A4): c.1198delT (p.Cys400Valfs) deletion Pathogenic/Likely pathogenic rs397516413 GRCh37 Chromosome 7, 107330617: 107330617
5 SLC26A4 NM_000441.1(SLC26A4): c.1226G> A (p.Arg409His) single nucleotide variant Pathogenic rs111033305 GRCh37 Chromosome 7, 107330645: 107330645
6 SLC26A4 NM_000441.1(SLC26A4): c.1226G> C (p.Arg409Pro) single nucleotide variant Likely pathogenic rs111033305 GRCh37 Chromosome 7, 107330645: 107330645
7 SLC26A4 NM_000441.1(SLC26A4): c.1229C> T (p.Thr410Met) single nucleotide variant Pathogenic rs111033220 GRCh37 Chromosome 7, 107330648: 107330648
8 SLC26A4 NM_000441.1(SLC26A4): c.1264-1G> C single nucleotide variant Pathogenic/Likely pathogenic rs111033311 GRCh37 Chromosome 7, 107334847: 107334847
9 SLC26A4 NM_000441.1(SLC26A4): c.1284_1286delTGC (p.Ala429del) deletion Pathogenic/Likely pathogenic rs111033306 GRCh37 Chromosome 7, 107334868: 107334870
10 SLC26A4 NM_000441.1(SLC26A4): c.1336C> T (p.Gln446Ter) single nucleotide variant Pathogenic/Likely pathogenic rs397516416 GRCh37 Chromosome 7, 107334920: 107334920
11 SLC26A4 NM_000441.1(SLC26A4): c.1341+1delG (p.Lys447Asnfs) deletion Pathogenic rs397516417 GRCh37 Chromosome 7, 107334926: 107334926
12 SLC26A4 NM_000441.1(SLC26A4): c.1342-2_1343dupAGTC duplication Pathogenic rs111033407 GRCh37 Chromosome 7, 107335064: 107335067
13 SLC26A4 NM_000441.1(SLC26A4): c.1437+2T> G single nucleotide variant Pathogenic/Likely pathogenic rs397516418 GRCh37 Chromosome 7, 107335163: 107335163
14 SLC26A4 NM_000441.1(SLC26A4): c.1541A> G (p.Gln514Arg) single nucleotide variant Pathogenic/Likely pathogenic rs111033316 GRCh37 Chromosome 7, 107336481: 107336481
15 SLC26A4 NM_000441.1(SLC26A4): c.1548_1549insC (p.Ser517Leufs) insertion Likely pathogenic rs111033317 GRCh37 Chromosome 7, 107338490: 107338491
16 SLC26A4 NM_000441.1(SLC26A4): c.1614+1G> A single nucleotide variant Pathogenic rs111033312 GRCh37 Chromosome 7, 107338557: 107338557
17 SLC26A4 NM_000441.1(SLC26A4): c.164+2T> C single nucleotide variant Pathogenic rs397516420 GRCh37 Chromosome 7, 107302252: 107302252
18 SLC26A4 NM_000441.1(SLC26A4): c.1694G> A (p.Cys565Tyr) single nucleotide variant Likely pathogenic rs111033257 GRCh37 Chromosome 7, 107340607: 107340607
19 SLC26A4 NM_000441.1(SLC26A4): c.170C> G (p.Ser57Ter) single nucleotide variant Likely pathogenic rs111033200 GRCh37 Chromosome 7, 107303746: 107303746
20 SLC26A4 NM_000441.1(SLC26A4): c.1963A> G (p.Ile655Val) single nucleotide variant Likely pathogenic rs397516424 GRCh37 Chromosome 7, 107342431: 107342431
21 SLC26A4 NM_000441.1(SLC26A4): c.2015G> A (p.Gly672Glu) single nucleotide variant Pathogenic rs111033309 GRCh37 Chromosome 7, 107342483: 107342483
22 SLC26A4 NM_000441.1(SLC26A4): c.2027T> A (p.Leu676Gln) single nucleotide variant Pathogenic/Likely pathogenic rs111033318 GRCh37 Chromosome 7, 107342495: 107342495
23 SLC26A4 NM_000441.1(SLC26A4): c.2145G> T (p.Lys715Asn) single nucleotide variant Likely pathogenic rs397516427 GRCh37 Chromosome 7, 107350554: 107350554
24 SLC26A4 NM_000441.1(SLC26A4): c.2188C> T (p.Gln730Ter) single nucleotide variant Pathogenic rs397516428 GRCh37 Chromosome 7, 107350597: 107350597
25 SLC26A4 NM_000441.1(SLC26A4): c.294_298delCACGC (p.Thr99Alafs) deletion Pathogenic/Likely pathogenic rs111033241 GRCh37 Chromosome 7, 107303870: 107303874
26 SLC26A4 NM_000441.1(SLC26A4): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs111033302 GRCh37 Chromosome 7, 107302088: 107302088
27 SLC26A4 NM_000441.1(SLC26A4): c.397_398delTCinsA (p.Ser133Lysfs) indel Likely pathogenic rs111033400 GRCh37 Chromosome 7, 107312675: 107312676
28 SLC26A4 NM_000441.1(SLC26A4): c.589G> A (p.Gly197Arg) single nucleotide variant Likely pathogenic rs111033380 GRCh37 Chromosome 7, 107314782: 107314782
29 SLC26A4 NM_000441.1(SLC26A4): c.68C> A (p.Ser23Ter) single nucleotide variant Pathogenic/Likely pathogenic rs397516430 GRCh37 Chromosome 7, 107302154: 107302154
30 SLC26A4 NM_000441.1(SLC26A4): c.716T> A (p.Val239Asp) single nucleotide variant Pathogenic/Likely pathogenic rs111033256 GRCh37 Chromosome 7, 107315505: 107315505
31 SLC26A4 NM_000441.1(SLC26A4): c.765+2T> C single nucleotide variant Pathogenic rs397516432 GRCh37 Chromosome 7, 107315556: 107315556
32 SLC26A4 NM_000441.1(SLC26A4): c.85G> T (p.Glu29Ter) single nucleotide variant Likely pathogenic rs111033205 GRCh37 Chromosome 7, 107302171: 107302171
33 SLC26A4 NM_000441.1(SLC26A4): c.918+1G> T single nucleotide variant Likely pathogenic rs111033245 GRCh37 Chromosome 7, 107323800: 107323800
34 SLC26A4 NM_000441.1(SLC26A4): c.997_998insA (p.Arg333Lysfs) insertion Pathogenic rs431905486 GRCh37 Chromosome 7, 107323978: 107323978
35 SLC26A4 NM_000441.1(SLC26A4): c.-4+5G> A single nucleotide variant Likely pathogenic rs727503425 GRCh37 Chromosome 7, 107301305: 107301305
36 SLC26A4 NM_000441.1(SLC26A4): c.1707+6T> C single nucleotide variant Likely pathogenic rs727505230 GRCh37 Chromosome 7, 107340626: 107340626
37 SLC26A4 NM_000441.1(SLC26A4): c.2089+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs727503430 GRCh37 Chromosome 7, 107344831: 107344831
38 SLC26A4 NM_000441.1(SLC26A4): c.2215C> T (p.Gln739Ter) single nucleotide variant Pathogenic/Likely pathogenic rs727503431 GRCh37 Chromosome 7, 107350624: 107350624
39 SLC26A4 NM_000441.1(SLC26A4): c.1554G> A (p.Trp518Ter) single nucleotide variant Pathogenic rs727503428 GRCh37 Chromosome 7, 107338496: 107338496
40 SLC26A4 NM_000441.1(SLC26A4): c.1614+1G> C single nucleotide variant Pathogenic rs111033312 GRCh37 Chromosome 7, 107338557: 107338557
41 SLC26A4 NM_000441.1(SLC26A4): c.165-2A> G single nucleotide variant Likely pathogenic rs786204458 GRCh37 Chromosome 7, 107303739: 107303739
42 SLC26A4 NM_000441.1(SLC26A4): c.3G> C (p.Met1Ile) single nucleotide variant Likely pathogenic rs786204426 GRCh38 Chromosome 7, 107661644: 107661644
43 SLC26A4 NM_000441.1(SLC26A4): c.84C> A (p.Ser28Arg) single nucleotide variant Pathogenic/Likely pathogenic rs539699299 GRCh37 Chromosome 7, 107302170: 107302170
44 SLC26A4 NM_000441.1(SLC26A4): c.164+1delG deletion Likely pathogenic rs786204504 GRCh38 Chromosome 7, 107661806: 107661806
45 SLC26A4 NM_000441.1(SLC26A4): c.235C> T (p.Arg79Ter) single nucleotide variant Likely pathogenic rs786204581 GRCh37 Chromosome 7, 107303811: 107303811
46 SLC26A4 NM_000441.1(SLC26A4): c.269C> T (p.Ser90Leu) single nucleotide variant Likely pathogenic rs370588279 GRCh38 Chromosome 7, 107663400: 107663400
47 SLC26A4 NM_000441.1(SLC26A4): c.279delT (p.Ser93Argfs) deletion Pathogenic/Likely pathogenic rs786204421 GRCh37 Chromosome 7, 107303855: 107303855
48 SLC26A4 NM_000441.1(SLC26A4): c.304+2T> C single nucleotide variant Likely pathogenic rs746238617 GRCh37 Chromosome 7, 107303882: 107303882
49 SLC26A4 NM_000441.1(SLC26A4): c.365dupT (p.Ile124Tyrfs) duplication Likely pathogenic rs786204730 GRCh38 Chromosome 7, 107672198: 107672198
50 SLC26A4 NM_000441.1(SLC26A4): c.554G> C (p.Arg185Thr) single nucleotide variant Pathogenic/Likely pathogenic rs542620119 GRCh37 Chromosome 7, 107314747: 107314747

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
12.03 DUOX2 PAX8 SLC26A4 TG TPO
2 9.4 TG TPO

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 plasma membrane GO:0005886 9.9 AQP2 DUOX2 GJB2 KCNJ10 PTPRJ SLC12A3
2 integral component of plasma membrane GO:0005887 9.61 AQP2 KCNJ10 PTPRJ SLC12A3 SLC26A2 SLC26A3
3 basolateral plasma membrane GO:0016323 9.5 AQP2 KCNJ10 SLC26A5
4 apical plasma membrane GO:0016324 9.1 AQP2 DUOX2 SLC12A3 SLC26A2 SLC26A3 SLC26A4
5 integral component of membrane GO:0016021 10 AQP2 DUOX2 GJB2 KCNJ10 PTPRJ SLC12A3

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.95 KCNJ10 SLC12A3 SLC26A2 SLC26A3 SLC26A4
2 sensory perception of sound GO:0007605 9.75 GJB2 SLC26A4 SLC26A5
3 chloride transmembrane transport GO:1902476 9.72 SLC12A3 SLC26A2 SLC26A3 SLC26A4 SLC26A5
4 bicarbonate transport GO:0015701 9.71 SLC26A2 SLC26A3 SLC26A4 SLC26A5
5 anion transmembrane transport GO:0098656 9.67 SLC26A3 SLC26A4 SLC26A5
6 regulation of intracellular pH GO:0051453 9.67 SLC26A2 SLC26A3 SLC26A4 SLC26A5
7 thyroid gland development GO:0030878 9.65 DUOX2 PAX8 TG
8 regulation of membrane potential GO:0042391 9.65 KCNJ10 SLC26A2 SLC26A3 SLC26A4 SLC26A5
9 hormone biosynthetic process GO:0042446 9.61 DUOX2 TG TPO
10 response to ischemia GO:0002931 9.58 GJB2 SLC26A5
11 hydrogen peroxide catabolic process GO:0042744 9.57 DUOX2 TPO
12 thyroid hormone generation GO:0006590 9.54 DUOX2 TPO
13 thyroid hormone metabolic process GO:0042403 9.52 DUOX2 TG
14 iodide transport GO:0015705 9.51 SLC26A4 TG
15 sulfate transport GO:0008272 9.46 SLC26A2 SLC26A3 SLC26A4 SLC26A5
16 sulfate transmembrane transport GO:1902358 9.26 SLC26A2 SLC26A3 SLC26A4 SLC26A5
17 oxalate transport GO:0019532 8.92 SLC26A2 SLC26A3 SLC26A4 SLC26A5
18 transport GO:0006810 10.1 AQP2 GJB2 KCNJ10 SLC12A3 SLC26A2 SLC26A3
19 transmembrane transport GO:0055085 10 AQP2 GJB2 SLC12A3 SLC26A2 SLC26A3 SLC26A4

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

# Name GO ID Score Top Affiliating Genes
1 chloride channel activity GO:0005254 9.67 SLC26A2 SLC26A3 SLC26A4 SLC26A5
2 anion:anion antiporter activity GO:0015301 9.62 SLC26A2 SLC26A3 SLC26A4 SLC26A5
3 bicarbonate transmembrane transporter activity GO:0015106 9.56 SLC26A2 SLC26A3 SLC26A4 SLC26A5
4 sulfate transmembrane transporter activity GO:0015116 9.46 SLC26A2 SLC26A3 SLC26A4 SLC26A5
5 peroxidase activity GO:0004601 9.43 DUOX2 TPO
6 chloride transmembrane transporter activity GO:0015108 9.4 SLC26A3 SLC26A4
7 secondary active sulfate transmembrane transporter activity GO:0008271 9.26 SLC26A2 SLC26A3 SLC26A4 SLC26A5
8 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....