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:

(show top 50) (show all 102)
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

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 (show all 20)
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 (show all 11)
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:


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:

(show top 50) (show all 128)
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

Variations for Pendred Syndrome

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

71 (show all 43)
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 (show top 50) (show all 121)
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

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:

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:

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:

(show all 20)
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:

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
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44 MGI
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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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