MCID: PND002
MIFTS: 55

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 57 12 76 53 25 59 75 13 55 44 15 40
Goiter-Deafness Syndrome 57 12 53 25 59 75
Deafness with Goiter 57 12 53 25 75
Pendred's Syndrome 25 29 6 73
Thyroid Dyshormonogenesis 2b 57 12 75
Tdh2b 57 12 75
Pds 57 53 75
Autosomal Recessive Sensorineural Hearing Impairment, Enlarged Vestibular Aqueduct, and Goiter 25
Autosomal Recessive Sensorineural Hearing Impairment and Goiter 53
Hypothyroidism, Congenital, Due to Dyshormonogenesis, 2b 57
Congenital Hypothyroidism Due to Dyshormonogenesis 2b 12
Thyroid Hormonogenesis, Genetic Defect in, 2b 57
Genetic Defect in Thyroid Hormonogenesis 2b 12
Thyroid Dyshormonogenesis 2b; Tdh2b 57

Characteristics:

Orphanet epidemiological data:

59
pendred syndrome
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

57
Miscellaneous:
thyroid carcinoma

Inheritance:
autosomal recessive


HPO:

32
pendred syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 274600
Disease Ontology 12 DOID:0060744
ICD10 33 E07.1
Orphanet 59 ORPHA705
MESH via Orphanet 45 C536648
UMLS via Orphanet 74 C0271829
ICD10 via Orphanet 34 E07.1
MedGen 42 C0271829
UMLS 73 C0271829

Summaries for Pendred Syndrome

NIH Rare Diseases : 53 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.

MalaCards based summary : Pendred Syndrome, also known as goiter-deafness syndrome, is related to familial thyroid dyshormonogenesis and goiter. 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 testes, and related phenotypes are hypothyroidism and intellectual disability

OMIM : 57 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 : 75 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.

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 : 76 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 75)
# Related Disease Score Top Affiliating Genes
1 familial thyroid dyshormonogenesis 29.7 DUOX2 TG TPO
2 goiter 29.6 PAX8 SLC26A4 TG TPO
3 nonsyndromic deafness 29.5 FOXI1 GJB2 SLC26A4
4 neonatal hypothyroidism 29.3 PAX8 TG TPO
5 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 29.1 FOXI1 GJB2 KCNJ10 SLC26A2 SLC26A4 SLC26A5
6 hypothyroidism 28.2 DUOX2 PAX8 SLC26A4 TG TPO
7 congenital hypothyroidism 28.2 DUOX2 PAX8 TG TPO
8 parkinson disease, late-onset 12.1
9 pendred syndrome/nonsyndromic enlarged vestibular aqueduct 11.9
10 glaucoma-related pigment dispersion syndrome 11.6
11 prolidase deficiency 11.6
12 multiple system atrophy 1 11.1
13 personality disorder 11.1
14 corticobasal degeneration 11.1
15 ehlers-danlos syndrome, spondylodysplastic type, 1 11.0
16 spondylodysplastic ehlers-danlos syndrome 11.0
17 mohr-tranebjaerg syndrome 11.0
18 ectodermal dysplasia/skin fragility syndrome 10.9
19 parkinson disease 19a, juvenile-onset 10.9
20 methylmalonyl-coa epimerase deficiency 10.9
21 hodgkin's lymphoma, nodular sclerosis 10.8 GJB2 SLC26A4
22 deafness, autosomal dominant 36 10.7 GJB2 SLC26A4
23 subacute lymphocytic thyroiditis 10.7 TG TPO
24 deafness, autosomal recessive 23 10.7 GJB2 SLC26A4
25 goiter, multinodular 1, with or without sertoli-leydig cell tumors 10.7 TG TPO
26 endemic goiter 10.7 TG TPO
27 plummer's disease 10.7 TG TPO
28 premature menopause 10.6 TG TPO
29 graves disease 1 10.6 TG TPO
30 hypothyroidism, congenital, nongoitrous, 4 10.6 TG TPO
31 deafness, autosomal recessive 26 10.6 GJB2 SLC26A4
32 nontoxic goiter 10.6 TG TPO
33 myxedema 10.6 TG TPO
34 toxic diffuse goiter 10.6 TG TPO
35 subacute thyroiditis 10.6 TG TPO
36 pernicious anemia 10.5 TG TPO
37 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 10.5 TG TPO
38 deafness, autosomal recessive 30 10.5 GJB2 SLC26A4
39 seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance 10.5 AQP2 KCNJ10
40 peripheral vertigo 10.5 AQP2 SLC26A4
41 deafness, autosomal recessive 16 10.4 GJB2 SLC26A4
42 thyroiditis 10.4
43 hashimoto thyroiditis 10.4 SLC26A4 TG TPO
44 congenital chloride diarrhea 10.4 SLC26A2 SLC26A3
45 autosomal recessive nonsyndromic deafness 3 10.4 GJB2 SLC26A4
46 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
47 spermatocele 10.3 SLC26A3 TG
48 ear malformation 10.3 FOXI1 GJB2 KCNJ10 SLC26A4
49 nodular goiter 10.2 TG TPO
50 autosomal recessive non-syndromic sensorineural deafness type dfnb 10.2 GJB2 SLC26A4 SLC26A5

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:

57
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:

59 32 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypothyroidism 59 32 frequent (33%) Frequent (79-30%) HP:0000821
2 intellectual disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001249
3 ataxia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001251
4 respiratory insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0002093
5 neurological speech impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0002167
6 sensorineural hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000407
7 nephropathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000112
8 goiter 59 32 frequent (33%) Frequent (79-30%) HP:0000853
9 vertigo 59 32 occasional (7.5%) Occasional (29-5%) HP:0002321
10 hyperparathyroidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000843
11 tracheal stenosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002777
12 hypoplasia of the cochlea 59 32 hallmark (90%) Very frequent (99-80%) HP:0008586
13 thyroid carcinoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002890
14 enlarged vestibular aqueduct 59 32 hallmark (90%) Very frequent (99-80%) HP:0011387
15 abnormality of metabolism/homeostasis 32 HP:0001939
16 congenital sensorineural hearing impairment 32 HP:0008527
17 abnormality of the inner ear 59 Very frequent (99-80%)
18 vestibular dysfunction 32 HP:0001751
19 cochlear malformation 32 HP:0008554
20 compensated hypothyroidism 32 HP:0008223

MGI Mouse Phenotypes related to Pendred Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.17 AQP2 DUOX2 GJB2 KCNJ10 PAX8 SLC26A2
2 homeostasis/metabolism MP:0005376 10.11 KCNJ10 PAX8 SLC26A3 SLC26A4 SLC4A1 TG
3 mortality/aging MP:0010768 10.02 SLC26A3 SLC4A1 TPO AQP2 FOXI1 GJB2
4 hearing/vestibular/ear MP:0005377 10.01 DUOX2 FOXI1 GJB2 KCNJ10 PAX8 SLC26A4
5 nervous system MP:0003631 9.91 DUOX2 FOXI1 GJB2 KCNJ10 KCNJ9 PAX8
6 renal/urinary system MP:0005367 9.63 AQP2 FOXI1 KCNJ10 PAX8 SLC26A4 SLC4A1
7 reproductive system MP:0005389 9.5 AQP2 DUOX2 FOXI1 GJB2 PAX8 SLC26A4
8 skeleton MP:0005390 9.17 DUOX2 FOXI1 GJB2 PAX8 SLC26A2 SLC26A4

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 29 FOXI1 KCNJ10 SLC26A4

Anatomical Context for Pendred Syndrome

MalaCards organs/tissues related to Pendred Syndrome:

41
Thyroid, Testes

Publications for Pendred Syndrome

Articles related to Pendred Syndrome:

(show top 50) (show all 130)
# 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
[Results of molecular genetic testing in Russian patients with Pendred syndrome and allelic disorders]. ( 29372807 )
2017
3
Pendred syndrome. ( 28648509 )
2017
4
[The clinical definition and etiology of Pendred syndrome (a review of the literature and clinical observations)]. ( 28091472 )
2016
5
Targeted Next-Generation Sequencing Analysis of a Pendred Syndrome-Associated Thyroid Carcinoma. ( 26744121 )
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
Delayed diagnosis of Pendred syndrome. ( 27620717 )
2016
9
Patients with Pendred syndrome:is cochlear implantation beneficial? ( 26331303 )
2015
10
Identification of a founder mutation for Pendred syndrome in families from northwest Iran. ( 25239229 )
2014
11
Analysis of the Thyroid Phenotype in 42 Patients with Pendred Syndrome and Nonsyndromic Enlargement of the Vestibular Aqueduct. ( 24224479 )
2014
12
Bipolar disorder in Pendred syndrome: a case report of two siblings. ( 24595510 )
2014
13
Evaluation of genotype-phenotype relationships in patients referred for endocrine assessment in suspected Pendred syndrome. ( 25394566 )
2014
14
Mutations in the Pendred Syndrome (PDS/SLC26A) Gene: An Increasingly Complex Phenotypic Spectrum From Goiter to Thyroid Hypoplasia. ( 24384016 )
2014
15
Goiter and hearing impairment: A case of a male patient with Pendred syndrome. ( 25295090 )
2014
16
A1555G homoplasmic mutation from A1555G heteroplasmic mother with Pendred syndrome. ( 25223473 )
2014
17
Pendred syndrome with retrosternal goitre- a rare case report. ( 24426607 )
2013
18
Compound Heterozygosity for Two Novel SLC26A4 Mutations in a Large Iranian Pedigree with Pendred Syndrome. ( 24353858 )
2013
19
Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in Pendred syndrome/enlarged vestibular aqueducts. ( 23965030 )
2013
20
Pathogenic substitution of IVS15 + 5G > A in SLC26A4 in patients of Okinawa Islands with enlarged vestibular aqueduct syndrome or Pendred syndrome. ( 23705809 )
2013
21
Papillary thyroid carcinoma in one of identical twin patients with Pendred syndrome. ( 23459462 )
2013
22
A Novel mutation in the SLC26A4 gene in a Chinese family with Pendred syndrome. ( 23838540 )
2013
23
CT-Scans of Cochlear Implant Patients with Characteristics of Pendred Syndrome. ( 24429823 )
2013
24
Novel heterozygous mutation c.662_663insG compound with IVS7-2A>G mutation in SLC26A4 gene in a Chinese family with Pendred syndrome. ( 22906308 )
2012
25
A novel insertion-induced frameshift mutation of the SLC26A4 gene in a Korean family with Pendred syndrome. ( 22884721 )
2012
26
Segregation of a new mutation in SLC26A4 and p.E47X mutation in GJB2 within a consanguineous Tunisian family affected with Pendred syndrome. ( 22429511 )
2012
27
Molecular and functional studies of 4 candidate loci in Pendred syndrome and nonsyndromic hearing loss. ( 22285650 )
2012
28
Mutation analysis of SLC26A4 for Pendred syndrome and nonsyndromic hearing loss by high-resolution melting. ( 21704276 )
2011
29
Clinical and molecular characteristics of Pendred syndrome. ( 21511235 )
2011
30
Life-threatening metabolic alkalosis in Pendred syndrome. ( 21551164 )
2011
31
An unfortunate case of Pendred syndrome. ( 21745434 )
2011
32
Cochlear implantation in Pendred syndrome. ( 21917203 )
2011
33
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
34
Pendred syndrome in Tunisia. ( 20822748 )
2010
35
Novel human pathological mutations. Gene symbol: SLC26A4. Disease: Pendred syndrome. ( 21488234 )
2010
36
Genetics and phenomics of Pendred syndrome. ( 20298745 )
2010
37
Congenital goitrous hypothyroidism, deafness and iodide organification defect in four siblings: Pendred or pseudo-Pendred syndrome? ( 21274344 )
2010
38
A patient with Pendred syndrome whose goiter progressed with normal serum thyrotropin and iodine organification. ( 20583162 )
2010
39
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
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
Functional characterization of wild-type and mutated pendrin (SLC26A4), the anion transporter involved in Pendred syndrome. ( 19608655 )
2009
43
Goitre and hearing impairment in a patient with Pendred syndrome. ( 18349467 )
2008
44
Pendred syndrome among patients with congenital hypothyroidism detected by neonatal screening: identification of two novel PDS/SLC26A4 mutations. ( 17876604 )
2008
45
Thyroidectomy in a patient with multinodular dyshormonogenetic goitre--a case of Pendred syndrome confirmed by mutations in the PDS/SLC26A4 gene. ( 19189692 )
2008
46
Phenotypes of SLC26A4 gene mutations: Pendred syndrome and hypoacusis with enlarged vestibular aqueduct. ( 18283249 )
2008
47
Free radical stress-mediated loss of Kcnj10 protein expression in stria vascularis contributes to deafness in Pendred syndrome mouse model. ( 17959752 )
2008
48
Pendred syndrome and iodide transport in the thyroid. ( 18692402 )
2008
49
Pendred syndrome in a large consanguineous Brazilian family caused by a homozygous mutation in the SLC26A4 gene. ( 19169484 )
2008
50
Pendred syndrome in two Galician families: insights into clinical phenotypes through cellular, genetic, and molecular studies. ( 17940114 )
2008

Variations for Pendred Syndrome

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

75 (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
12 SLC26A4 p.Tyr105Cys VAR_021645
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
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
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
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

ClinVar genetic disease variations for Pendred Syndrome:

6
(show top 50) (show all 492)
# 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 NM_000441.1(SLC26A4): c.2000T> G (p.Phe667Cys) single nucleotide variant Pathogenic rs121908360 GRCh38 Chromosome 7, 107702023: 107702023
3 SLC26A4 SLC26A4, 1-BP DEL, 1565G deletion Pathogenic
4 SLC26A4 SLC26A4, 1-BP DEL, 1421T deletion Pathogenic
5 SLC26A4 NM_000441.1(SLC26A4): c.1489G> A (p.Gly497Ser) single nucleotide variant Pathogenic/Likely pathogenic rs111033308 GRCh37 Chromosome 7, 107336429: 107336429
6 SLC26A4 NM_000441.1(SLC26A4): c.1489G> A (p.Gly497Ser) single nucleotide variant Pathogenic/Likely pathogenic rs111033308 GRCh38 Chromosome 7, 107695984: 107695984
7 SLC26A4 NM_000441.1(SLC26A4): c.707T> C (p.Leu236Pro) single nucleotide variant Pathogenic rs80338848 GRCh37 Chromosome 7, 107315496: 107315496
8 SLC26A4 NM_000441.1(SLC26A4): c.707T> C (p.Leu236Pro) single nucleotide variant Pathogenic rs80338848 GRCh38 Chromosome 7, 107675051: 107675051
9 SLC26A4 NM_000441.1(SLC26A4): c.1246A> C (p.Thr416Pro) single nucleotide variant Pathogenic rs28939086 GRCh37 Chromosome 7, 107330665: 107330665
10 SLC26A4 NM_000441.1(SLC26A4): c.1246A> C (p.Thr416Pro) single nucleotide variant Pathogenic rs28939086 GRCh38 Chromosome 7, 107690220: 107690220
11 SLC26A4 NM_000441.1(SLC26A4): c.1001+1G> A single nucleotide variant Pathogenic rs80338849 GRCh37 Chromosome 7, 107323983: 107323983
12 SLC26A4 NM_000441.1(SLC26A4): c.1001+1G> A single nucleotide variant Pathogenic rs80338849 GRCh38 Chromosome 7, 107683538: 107683538
13 SLC26A4 NM_000441.1(SLC26A4): c.1151A> G (p.Glu384Gly) single nucleotide variant Pathogenic/Likely pathogenic rs111033244 GRCh37 Chromosome 7, 107330570: 107330570
14 SLC26A4 NM_000441.1(SLC26A4): c.1151A> G (p.Glu384Gly) single nucleotide variant Pathogenic/Likely pathogenic rs111033244 GRCh38 Chromosome 7, 107690125: 107690125
15 SLC26A4 NM_000441.1(SLC26A4): c.626G> T (p.Gly209Val) single nucleotide variant Pathogenic rs111033303 GRCh37 Chromosome 7, 107315415: 107315415
16 SLC26A4 NM_000441.1(SLC26A4): c.626G> T (p.Gly209Val) single nucleotide variant Pathogenic rs111033303 GRCh38 Chromosome 7, 107674970: 107674970
17 SLC26A4 NM_000441.1(SLC26A4): c.2168A> G (p.His723Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121908362 GRCh37 Chromosome 7, 107350577: 107350577
18 SLC26A4 NM_000441.1(SLC26A4): c.2168A> G (p.His723Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121908362 GRCh38 Chromosome 7, 107710132: 107710132
19 SLC26A4 NM_000441.1(SLC26A4): c.2162C> T (p.Thr721Met) single nucleotide variant Pathogenic/Likely pathogenic rs121908363 GRCh37 Chromosome 7, 107350571: 107350571
20 SLC26A4 NM_000441.1(SLC26A4): c.2162C> T (p.Thr721Met) single nucleotide variant Pathogenic/Likely pathogenic rs121908363 GRCh38 Chromosome 7, 107710126: 107710126
21 SLC26A4 SLC26A4, IVS4DS, A-G, +7 single nucleotide variant Pathogenic
22 SLC26A4 NM_000441.1(SLC26A4): c.1334T> G (p.Leu445Trp) single nucleotide variant Pathogenic rs111033307 GRCh37 Chromosome 7, 107334918: 107334918
23 SLC26A4 NM_000441.1(SLC26A4): c.1334T> G (p.Leu445Trp) single nucleotide variant Pathogenic rs111033307 GRCh38 Chromosome 7, 107694473: 107694473
24 SLC26A4 NM_000441.1(SLC26A4): c.578C> T (p.Thr193Ile) single nucleotide variant Pathogenic rs111033348 GRCh37 Chromosome 7, 107314771: 107314771
25 SLC26A4 NM_000441.1(SLC26A4): c.578C> T (p.Thr193Ile) single nucleotide variant Pathogenic rs111033348 GRCh38 Chromosome 7, 107674326: 107674326
26 SLC26A4 SLC26A4, 1-BP DEL, 1197T deletion Pathogenic
27 SLC26A4 SLC26A4, 1-BP INS, 2182G insertion Pathogenic
28 SLC26A4 SLC26A4, IVS8, C-G, 1002-4 single nucleotide variant Pathogenic
29 SLC26A4 NM_000441.1(SLC26A4): c.397T> A (p.Ser133Thr) single nucleotide variant Pathogenic rs121908365 GRCh37 Chromosome 7, 107312675: 107312675
30 SLC26A4 NM_000441.1(SLC26A4): c.397T> A (p.Ser133Thr) single nucleotide variant Pathogenic rs121908365 GRCh38 Chromosome 7, 107672230: 107672230
31 SLC26A4 NM_000441.1(SLC26A4): c.412G> T (p.Val138Phe) single nucleotide variant Pathogenic rs111033199 GRCh37 Chromosome 7, 107312690: 107312690
32 SLC26A4 NM_000441.1(SLC26A4): c.412G> T (p.Val138Phe) single nucleotide variant Pathogenic rs111033199 GRCh38 Chromosome 7, 107672245: 107672245
33 SLC26A4 NM_000441.1(SLC26A4): c.1588T> C (p.Tyr530His) single nucleotide variant Pathogenic/Likely pathogenic rs111033254 GRCh37 Chromosome 7, 107338530: 107338530
34 SLC26A4 NM_000441.1(SLC26A4): c.1588T> C (p.Tyr530His) single nucleotide variant Pathogenic/Likely pathogenic rs111033254 GRCh38 Chromosome 7, 107698085: 107698085
35 SLC26A4 NM_000441.1(SLC26A4): c.85G> C (p.Glu29Gln) single nucleotide variant Pathogenic/Likely pathogenic rs111033205 GRCh37 Chromosome 7, 107302171: 107302171
36 SLC26A4 NM_000441.1(SLC26A4): c.85G> C (p.Glu29Gln) single nucleotide variant Pathogenic/Likely pathogenic rs111033205 GRCh38 Chromosome 7, 107661726: 107661726
37 SLC26A4 NM_000441.1(SLC26A4): c.919-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs111033313 GRCh37 Chromosome 7, 107323898: 107323898
38 SLC26A4 NM_000441.1(SLC26A4): c.919-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs111033313 GRCh38 Chromosome 7, 107683453: 107683453
39 FOXI1 NM_012188.4(FOXI1): c.800G> A (p.Arg267Gln) single nucleotide variant Pathogenic rs121909341 GRCh37 Chromosome 5, 169535278: 169535278
40 FOXI1 NM_012188.4(FOXI1): c.800G> A (p.Arg267Gln) single nucleotide variant Pathogenic rs121909341 GRCh38 Chromosome 5, 170108274: 170108274
41 SLC26A4 NM_000441.1(SLC26A4): c.-3-2A> G single nucleotide variant Pathogenic rs397516411 GRCh37 Chromosome 7, 107302082: 107302082
42 SLC26A4 NM_000441.1(SLC26A4): c.-3-2A> G single nucleotide variant Pathogenic rs397516411 GRCh38 Chromosome 7, 107661637: 107661637
43 SLC26A4 NM_000441.1(SLC26A4): c.1149+3A> G single nucleotide variant Pathogenic rs111033314 GRCh37 Chromosome 7, 107329648: 107329648
44 SLC26A4 NM_000441.1(SLC26A4): c.1149+3A> G single nucleotide variant Pathogenic rs111033314 GRCh38 Chromosome 7, 107689203: 107689203
45 SLC26A4 NM_000441.1(SLC26A4): c.1198delT (p.Cys400Valfs) deletion Pathogenic/Likely pathogenic rs397516413 GRCh37 Chromosome 7, 107330617: 107330617
46 SLC26A4 NM_000441.1(SLC26A4): c.1198delT (p.Cys400Valfs) deletion Pathogenic/Likely pathogenic rs397516413 GRCh38 Chromosome 7, 107690172: 107690172
47 SLC26A4 NM_000441.1(SLC26A4): c.1226G> A (p.Arg409His) single nucleotide variant Pathogenic rs111033305 GRCh37 Chromosome 7, 107330645: 107330645
48 SLC26A4 NM_000441.1(SLC26A4): c.1226G> A (p.Arg409His) single nucleotide variant Pathogenic rs111033305 GRCh38 Chromosome 7, 107690200: 107690200
49 SLC26A4 NM_000441.1(SLC26A4): c.1226G> C (p.Arg409Pro) single nucleotide variant Likely pathogenic rs111033305 GRCh37 Chromosome 7, 107330645: 107330645
50 SLC26A4 NM_000441.1(SLC26A4): c.1226G> C (p.Arg409Pro) single nucleotide variant Likely pathogenic rs111033305 GRCh38 Chromosome 7, 107690200: 107690200

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
12.21 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 9.93 AQP2 DUOX2 GJB2 KCNJ10 KCNJ9 SLC26A2
2 basolateral plasma membrane GO:0016323 9.62 AQP2 KCNJ10 SLC26A5 SLC4A1
3 apical plasma membrane GO:0016324 9.35 AQP2 DUOX2 SLC26A2 SLC26A3 SLC26A4
4 integral component of plasma membrane GO:0005887 9.32 AQP2 KCNJ10 KCNJ9 SLC26A2 SLC26A3 SLC26A4
5 membrane GO:0016020 10.15 AQP2 DUOX2 GJB2 KCNJ10 KCNJ9 SLC26A2
6 integral component of membrane GO:0016021 10.03 AQP2 DUOX2 GJB2 KCNJ10 KCNJ9 SLC26A2

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 regulation of membrane potential GO:0042391 9.91 KCNJ10 SLC26A2 SLC26A3 SLC26A4 SLC26A5 SLC26A8
2 chloride transmembrane transport GO:1902476 9.85 SLC26A2 SLC26A3 SLC26A4 SLC26A5 SLC26A8 SLC4A1
3 anion transmembrane transport GO:0098656 9.8 SLC26A3 SLC26A4 SLC26A5 SLC26A8 SLC4A1
4 sensory perception of sound GO:0007605 9.76 GJB2 SLC26A4 SLC26A5
5 chloride transport GO:0006821 9.73 SLC26A3 SLC26A8 SLC4A1
6 sulfate transport GO:0008272 9.72 SLC26A2 SLC26A3 SLC26A4 SLC26A5 SLC26A8
7 anion transport GO:0006820 9.7 SLC26A3 SLC26A8 SLC4A1
8 thyroid gland development GO:0030878 9.69 DUOX2 PAX8 TG
9 hormone biosynthetic process GO:0042446 9.67 DUOX2 TG TPO
10 sulfate transmembrane transport GO:1902358 9.65 SLC26A2 SLC26A3 SLC26A4 SLC26A5 SLC26A8
11 bicarbonate transport GO:0015701 9.63 SLC26A2 SLC26A3 SLC26A4 SLC26A5 SLC26A8 SLC4A1
12 excretion GO:0007588 9.61 AQP2 SLC26A3
13 inorganic anion transport GO:0015698 9.6 SLC26A4 SLC4A1
14 sperm capacitation GO:0048240 9.59 SLC26A3 SLC26A8
15 hydrogen peroxide catabolic process GO:0042744 9.58 DUOX2 TPO
16 thyroid hormone generation GO:0006590 9.57 DUOX2 TPO
17 thyroid hormone metabolic process GO:0042403 9.55 DUOX2 TG
18 iodide transport GO:0015705 9.54 SLC26A4 TG
19 regulation of intracellular pH GO:0051453 9.43 SLC26A2 SLC26A3 SLC26A4 SLC26A5 SLC26A8 SLC4A1
20 oxalate transport GO:0019532 9.02 SLC26A2 SLC26A3 SLC26A4 SLC26A5 SLC26A8
21 ion transport GO:0006811 10.02 KCNJ10 KCNJ9 SLC26A2 SLC26A3 SLC26A4 SLC26A8
22 transmembrane transport GO:0055085 10 AQP2 GJB2 SLC26A2 SLC26A3 SLC26A4 SLC26A5

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 chloride channel activity GO:0005254 9.77 SLC26A2 SLC26A3 SLC26A4 SLC26A5 SLC26A8
2 sulfate transmembrane transporter activity GO:0015116 9.72 SLC26A2 SLC26A3 SLC26A4 SLC26A5 SLC26A8
3 secondary active sulfate transmembrane transporter activity GO:0008271 9.65 SLC26A2 SLC26A3 SLC26A4 SLC26A5 SLC26A8
4 chloride transmembrane transporter activity GO:0015108 9.58 SLC26A3 SLC26A4 SLC4A1
5 oxalate transmembrane transporter activity GO:0019531 9.55 SLC26A2 SLC26A3 SLC26A4 SLC26A5 SLC26A8
6 inorganic anion exchanger activity GO:0005452 9.51 SLC26A3 SLC4A1
7 peroxidase activity GO:0004601 9.49 DUOX2 TPO
8 inward rectifier potassium channel activity GO:0005242 9.48 KCNJ10 KCNJ9
9 anion transmembrane transporter activity GO:0008509 9.46 SLC26A8 SLC4A1
10 G-protein activated inward rectifier potassium channel activity GO:0015467 9.43 KCNJ10 KCNJ9
11 anion:anion antiporter activity GO:0015301 9.43 SLC26A2 SLC26A3 SLC26A4 SLC26A5 SLC26A8 SLC4A1
12 bicarbonate transmembrane transporter activity GO:0015106 9.1 SLC26A2 SLC26A3 SLC26A4 SLC26A5 SLC26A8 SLC4A1

Sources for Pendred Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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