PDS
MCID: PND002
MIFTS: 57

Pendred Syndrome (PDS)

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

Aliases & Classifications for Pendred Syndrome

MalaCards integrated aliases for Pendred Syndrome:

Name: Pendred Syndrome 57 12 73 20 43 58 72 29 13 54 6 44 15
Goiter-Deafness Syndrome 57 12 20 43 58 72
Deafness with Goiter 57 12 20 43 72
Thyroid Dyshormonogenesis 2b 57 12 72
Tdh2b 57 12 72
Pds 57 20 72
Pendred's Syndrome 43 70
Autosomal Recessive Sensorineural Hearing Impairment, Enlarged Vestibular Aqueduct, and Goiter 43
Autosomal Recessive Sensorineural Hearing Impairment and Goiter 20
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
Goiter-Hearing Loss Syndrome 58
Syndrome, Pendred 39

Characteristics:

Orphanet epidemiological data:

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

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
thyroid carcinoma

Inheritance:
autosomal recessive


HPO:

31
pendred syndrome:
Inheritance autosomal recessive inheritance


Classifications:

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


External Ids:

Disease Ontology 12 DOID:0060744
OMIM® 57 274600
NCIt 50 C121745
SNOMED-CT 67 70348004
ICD10 32 E07.1
MESH via Orphanet 45 C536648
ICD10 via Orphanet 33 E07.1
UMLS via Orphanet 71 C0271829
Orphanet 58 ORPHA705
MedGen 41 C0271829
UMLS 70 C0271829

Summaries for Pendred Syndrome

MedlinePlus Genetics : 43 Pendred syndrome is a disorder typically associated with hearing loss and a thyroid condition called a goiter. A goiter is an enlargement of the thyroid gland, which is a butterfly-shaped organ at the base of the neck that produces hormones. If a goiter develops in a person with Pendred syndrome, it usually forms between late childhood and early adulthood. In most cases, this enlargement does not cause the thyroid to malfunction.In most people with Pendred syndrome, severe to profound hearing loss caused by changes in the inner ear (sensorineural hearing loss) is evident at birth. Less commonly, hearing loss does not develop until later in infancy or early childhood. Some affected individuals also have problems with balance caused by dysfunction of the vestibular system, which is the part of the inner ear that helps maintain the body's balance and orientation.An inner ear abnormality called an enlarged vestibular aqueduct (EVA) is a characteristic feature of Pendred syndrome. The vestibular aqueduct is a bony canal that connects the inner ear with the inside of the skull. Some affected individuals also have an abnormally shaped cochlea, which is a snail-shaped structure in the inner ear that helps process sound. The combination of an enlarged vestibular aqueduct and an abnormally shaped cochlea is known as Mondini malformation.Pendred syndrome shares features with other hearing loss and thyroid conditions, and it is unclear whether they are best considered as separate disorders or as a spectrum of related signs and symptoms. These conditions include a form of nonsyndromic hearing loss (hearing loss that does not affect other parts of the body) called DFNB4, and, in a small number of people, a form of congenital hypothyroidism resulting from an abnormally small thyroid gland (thyroid hypoplasia). All of these conditions are caused by mutations in the same gene.

MalaCards based summary : Pendred Syndrome, also known as goiter-deafness syndrome, is related to pendred syndrome/nonsyndromic enlarged vestibular aqueduct and congenital hypothyroidism. An important gene associated with Pendred Syndrome is SLC26A4 (Solute Carrier Family 26 Member 4), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Aldosterone synthesis and secretion. Affiliated tissues include thyroid, bone and kidney, and related phenotypes are sensorineural hearing impairment and hypoplasia of the cochlea

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

GARD : 20 Pendred syndrome is a condition usually characterized by sensorineural hearing loss in both ears (bilateral) and euthyroid goiter (enlargement of the thyroid gland with normal thyroid gland function). The amount of hearing loss varies among affected people. In many cases, significant hearing loss is present at birth. In other cases, hearing loss does not develop until later in infancy or childhood. Some people have problems with balance caused by dysfunction of the part of the inner ear that helps with balance and orientation (the vestibular system). Pendred syndrome is inherited in an autosomal recessive manner. Mutations in 3 genes are currently known to cause the condition ( SLC26A4, FOXI1, and KCNJ10 ) and are found in about half of affected people. Other genes responsible for the condition have not yet been identified.

OMIM® : 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) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 Pendred syndrome: An autosomal recessive disorder characterized by congenital sensorineural hearing loss in association with thyroid goiter. The disorder may account for up to 10% of the cases of hereditary deafness. The deafness is most often associated with a Mondini cochlear defect. Deafness occurs early, starting at birth or during the first years of life. It is bilateral, sometimes asymmetrical, fluctuant and often progressive. Thyroid perturbations, such as thyroid goiter and/or hypothyroidism appear most commonly during adolescence, but they can be congenital or appear later.

Wikipedia : 73 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 185)
# Related Disease Score Top Affiliating Genes
1 pendred syndrome/nonsyndromic enlarged vestibular aqueduct 32.5 SLC26A4 KCNJ10 FOXI1
2 congenital hypothyroidism 32.0 TPO TG SLC26A4 PAX8 DUOX2
3 branchiootic syndrome 1 31.9 SLC26A4-AS1 SLC26A4 GJB2
4 goiter 31.6 TPO TG SLC26A4 PAX8 DUOX2
5 rare genetic deafness 31.5 SLC26A4-AS1 SLC26A4 PAX3 MITF GJB2
6 sensorineural hearing loss 31.3 SLC26A5 SLC26A4 PAX3 MITF KCNJ10 GJB2
7 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 31.3 SLC26A5 SLC26A4-AS1 SLC26A4 SLC26A2 KCNJ10 GJB2
8 hypothyroidism 31.3 TPO TG SLC26A4 PAX8 DUOX2
9 autosomal recessive non-syndromic sensorineural deafness type dfnb 31.2 SLC26A5 SLC26A4-AS1 SLC26A4 KCNJ10 GJB2 FOXI1
10 nonsyndromic hearing loss 31.0 SLC26A4 KCNJ10 GJB2
11 thyroid carcinoma 30.7 TPO TG SLC26A4 PAX8
12 familial thyroid dyshormonogenesis 30.7 TPO TG DUOX2
13 ear malformation 30.7 SLC26A4 KCNJ10 GJB2 FOXI1
14 congenital chloride diarrhea 30.5 SLC26A3 SLC26A2
15 hypokalemia 30.4 SLC12A3 KCNJ10 AQP2
16 waardenburg's syndrome 30.3 SLC26A4 PAX3 MITF GJB2 FOXI1
17 multinodular goiter 30.3 TPO TG SLC26A4 PAX8
18 follicular adenoma 30.3 TPO TG SLC26A4 PAX8
19 thyroid gland follicular carcinoma 30.3 TPO TG SLC26A4 PAX8
20 thyroid gland anaplastic carcinoma 30.3 TPO TG SLC26A4 PAX8
21 hashimoto thyroiditis 30.3 TPO TG SLC26A4
22 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 30.0 TPO TG
23 thyroid gland disease 30.0 TPO TG SLC26A4 PAX8 DUOX2
24 diastrophic dysplasia 30.0 SLC26A8 SLC26A5 SLC26A4 SLC26A3 SLC26A2 SLC26A11
25 myxedema 29.7 TPO TG
26 glaucoma-related pigment dispersion syndrome 11.4
27 ehlers-danlos syndrome, spondylodysplastic type, 1 11.1
28 mohr-tranebjaerg syndrome 11.0
29 spondylodysplastic ehlers-danlos syndrome 10.9
30 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.7
31 autosomal recessive disease 10.7
32 hereditary distal renal tubular acidosis 10.5 SLC4A1 FOXI1
33 serous labyrinthitis 10.5 SLC26A4 GJB2
34 labyrinthitis 10.5 SLC26A4 GJB2
35 mechanical strabismus 10.5 TPO TG
36 autosomal recessive nonsyndromic deafness 3 10.4 SLC26A4 GJB2
37 atypical follicular adenoma 10.4 TG PAX8
38 iodine hypothyroidism 10.4 TPO TG
39 thyroid sarcoma 10.4 TG PAX8
40 deafness, autosomal dominant 56 10.4 SLC26A4 GJB2
41 deafness, x-linked 2 10.4 SLC26A4 KCNJ10 GJB2
42 drug-induced hearing loss 10.4 SLC26A4 GJB2
43 waardenburg syndrome, type 2d 10.4 PAX3 MITF
44 nonencapsulated sclerosing carcinoma 10.4 TPO TG
45 acute thyroiditis 10.4 TPO TG
46 jervell and lange-nielsen syndrome 1 10.4 KCNJ10 GJB2 FOXI1
47 thyroid crisis 10.4 TPO TG
48 clear cell adenoma 10.4 TG PAX8
49 ocular albinism with congenital sensorineural deafness 10.4 PAX3 MITF
50 toxic diffuse goiter 10.4 TPO TG

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



Diseases related to Pendred Syndrome

Symptoms & Phenotypes for Pendred Syndrome

Human phenotypes related to Pendred Syndrome:

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Neck:
goiter

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

Endocrine Features:
compensated hypothyroidism
euthyroid
hypothyroid

Laboratory Abnormalities:
thyroid hormone organification defect

Clinical features from OMIM®:

274600 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Pendred Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.31 AQP2 DUOX2 GJB2 KCNJ10 MITF PAX3
2 homeostasis/metabolism MP:0005376 10.24 AQP2 DUOX2 FOXI1 GJB2 KCNJ10 MITF
3 hearing/vestibular/ear MP:0005377 10.1 DUOX2 FOXI1 GJB2 KCNJ10 MITF PAX3
4 craniofacial MP:0005382 10 FOXI1 GJB2 MITF PAX3 PAX8 SLC26A2
5 nervous system MP:0003631 10 DUOX2 FOXI1 GJB2 KCNJ10 MITF PAX3
6 limbs/digits/tail MP:0005371 9.87 GJB2 MITF PAX3 PAX8 SLC26A2 TG
7 renal/urinary system MP:0005367 9.85 AQP2 DUOX2 FOXI1 KCNJ10 MITF PAX3
8 reproductive system MP:0005389 9.65 AQP2 DUOX2 FOXI1 GJB2 MITF PAX8
9 skeleton MP:0005390 9.32 DUOX2 FOXI1 GJB2 MITF PAX3 PAX8

Drugs & Therapeutics for Pendred Syndrome

Search Clinical Trials , 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 Syndrome 29 FOXI1 KCNJ10 SLC26A4

Anatomical Context for Pendred Syndrome

MalaCards organs/tissues related to Pendred Syndrome:

40
Thyroid, Bone, Kidney, Testis, Heart, Colon, Lung

Publications for Pendred Syndrome

Articles related to Pendred Syndrome:

(show top 50) (show all 459)
# Title Authors PMID Year
1
Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese. 54 6 57 61
14508505 2003
2
Solitary thyroid nodule as presenting symptom of Pendred syndrome caused by a novel splice-site mutation in intron 8 of the SLC26A4 gene. 61 6 57 54
12920581 2003
3
Mutations of the PDS gene, encoding pendrin, are associated with protein mislocalization and loss of iodide efflux: implications for thyroid dysfunction in Pendred syndrome. 61 54 57 6
11932316 2002
4
Enlarged vestibular aqueduct: a radiological marker of pendred syndrome, and mutation of the PDS gene. 61 57 6 54
10700480 2000
5
Pendred syndrome: phenotypic variability in two families carrying the same PDS missense mutation. 54 61 6 57
10602116 2000
6
Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). 6 54 57 61
9398842 1997
7
Spectrum and frequency of SLC26A4 mutations among Czech patients with early hearing loss with and without Enlarged Vestibular Aqueduct (EVA). 6 57 61
20597900 2010
8
Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4). 6 57 61
17503324 2007
9
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. 57 6 61
15689455 2005
10
Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations. 61 57 6
11317356 2001
11
Phenocopies for deafness and goiter development in a large inbred Brazilian kindred with Pendred's syndrome associated with a novel mutation in the PDS gene. 54 57 6
9920104 1999
12
The gene for Pendred syndrome is located between D7S501 and D7S692 in a 1.7-cM region on chromosome 7q. 61 57 6
9070918 1997
13
Molecular analysis of the Pendred's syndrome gene and magnetic resonance imaging studies of the inner ear are essential for the diagnosis of true Pendred's syndrome. 57 6
10902795 2000
14
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. 61 54 6
19648736 2010
15
Identification of SLC26A4 gene mutations in Iranian families with hereditary hearing impairment. 6 54 61
18813951 2009
16
Pendred syndrome in a large consanguineous Brazilian family caused by a homozygous mutation in the SLC26A4 gene. 54 61 6
19169484 2008
17
Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA. 6 61 54
19017801 2008
18
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. 61 6 54
18285825 2008
19
Heterogeneity in the processing defect of SLC26A4 mutants. 61 54 6
18310264 2008
20
Two common and three novel PDS mutations in Thai patients with Pendred syndrome. 61 54 6
18250610 2007
21
Analysis of the SLC26A4 gene in patients with Pendred syndrome in Taiwan. 6 54 61
17697873 2007
22
Functional characterization of wild-type and a mutated form of SLC26A4 identified in a patient with Pendred syndrome. 61 6 54
16791000 2006
23
Fast fluorometric method for measuring pendrin (SLC26A4) Cl-/I- transport activity. 6 54 61
16914891 2006
24
Molecular analysis of the PDS gene in a nonconsanguineous Sicilian family with Pendred's syndrome. 6 54 61
16053392 2005
25
Genetics of congenital hypothyroidism. 54 57 61
15863666 2005
26
Hearing loss associated with enlarged vestibular aqueduct and Mondini dysplasia is caused by splice-site mutation in the PDS gene. 54 6 61
15574297 2005
27
Intrafamilial variability of the deafness and goiter phenotype in Pendred syndrome caused by a T416P mutation in the SLC26A4 gene. 61 54 6
15531480 2004
28
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. 61 54 6
12974744 2003
29
Retention of pendrin in the endoplasmic reticulum is a major mechanism for Pendred syndrome. 61 54 6
12354788 2002
30
Differential diagnosis between Pendred and pseudo-Pendred syndromes: clinical, radiologic, and molecular studies. 6 61 54
11919333 2002
31
Clinical and molecular analysis of three Mexican families with Pendred's syndrome. 61 6 54
11375792 2001
32
Pendrin, encoded by the Pendred syndrome gene, resides in the apical region of renal intercalated cells and mediates bicarbonate secretion. 54 61 57
11274445 2001
33
Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4). 61 54 6
10861298 2000
34
Deafness heterogeneity in a Druze isolate from the Middle East: novel OTOF and PDS mutations, low prevalence of GJB2 35delG mutation and indication for a new DFNB locus. 6 61 54
10878664 2000
35
Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations. 61 6 54
10190331 1999
36
Splice-site mutation in the PDS gene may result in intrafamilial variability for deafness in Pendred syndrome. 6 61 54
10571950 1999
37
Two frequent missense mutations in Pendred syndrome. 6 54 61
9618166 1998
38
Molecular analysis of the PDS gene in Pendred syndrome. 54 61 6
9618167 1998
39
Mapping pathogenic mutations suggests an innovative structural model for the pendrin (SLC26A4) transmembrane domain. 6 61
27771369 2017
40
[Results of molecular genetic testing in Russian patients with Pendred syndrome and allelic disorders]. 61 6
29372807 2017
41
The role and spectrum of SLC26A4 mutations in Iranian patients with autosomal recessive hereditary deafness. 6 61
25290043 2015
42
Evaluation of genotype-phenotype relationships in patients referred for endocrine assessment in suspected Pendred syndrome. 61 6
25394566 2015
43
Correlation between genotype and phenotype in patients with bi-allelic SLC26A4 mutations. 6 61
24007330 2014
44
Mutation spectrum and genotype-phenotype correlation of hearing loss patients caused by SLC26A4 mutations in the Japanese: a large cohort study. 61 6
24599119 2014
45
Analysis of the thyroid phenotype in 42 patients with Pendred syndrome and nonsyndromic enlargement of the vestibular aqueduct. 61 6
24224479 2014
46
Identification of PENDRIN (SLC26A4) mutations in patients with congenital hypothyroidism and "apparent" thyroid dysgenesis. 6 61
24248179 2014
47
SLC26A4 mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutations. 6 61
23336812 2013
48
A Novel mutation in the SLC26A4 gene in a Chinese family with Pendred syndrome. 61 6
23838540 2013
49
Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in Pendred syndrome/enlarged vestibular aqueducts. 61 6
23965030 2013
50
Significance of unilateral enlarged vestibular aqueduct. 61 6
23401162 2013

Variations for Pendred Syndrome

ClinVar genetic disease variations for Pendred Syndrome:

6 (show top 50) (show all 408)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC26A4 NM_000441.2(SLC26A4):c.997dup (p.Arg333fs) Duplication Pathogenic 97015 rs431905486 GRCh37: 7:107323976-107323977
GRCh38: 7:107683531-107683532
2 SLC26A4 NM_000441.2(SLC26A4):c.2000T>G (p.Phe667Cys) SNV Pathogenic 4812 rs121908360 GRCh37: 7:107342468-107342468
GRCh38: 7:107702023-107702023
3 SLC26A4 SLC26A4, 1-BP DEL, 1565G Deletion Pathogenic 4813 GRCh37:
GRCh38:
4 SLC26A4 SLC26A4, 1-BP DEL, 1421T Deletion Pathogenic 4814 GRCh37:
GRCh38:
5 SLC26A4 NM_000441.2(SLC26A4):c.415+7A>G SNV Pathogenic 4828 rs765884316 GRCh37: 7:107312700-107312700
GRCh38: 7:107672255-107672255
6 SLC26A4 SLC26A4, 1-BP DEL, 1197T Deletion Pathogenic 4831 GRCh37:
GRCh38:
7 SLC26A4 NM_000441.2(SLC26A4):c.2182_2183insG (p.Tyr728Ter) Insertion Pathogenic 4832 rs1584344687 GRCh37: 7:107350591-107350592
GRCh38: 7:107710146-107710147
8 SLC26A4 SLC26A4, IVS8, C-G, 1002-4 SNV Pathogenic 4833 GRCh37:
GRCh38:
9 FOXI1 NM_012188.5(FOXI1):c.800G>A (p.Arg267Gln) SNV Pathogenic 8450 rs121909341 GRCh37: 5:169535278-169535278
GRCh38: 5:170108274-170108274
10 SLC26A4 NM_000441.2(SLC26A4):c.1341+1G>C SNV Pathogenic 370343 rs376653349 GRCh37: 7:107334926-107334926
GRCh38: 7:107694481-107694481
11 SLC26A4 NM_000441.2(SLC26A4):c.2228T>A (p.Leu743Ter) SNV Pathogenic 371476 rs1057517303 GRCh37: 7:107350637-107350637
GRCh38: 7:107710192-107710192
12 SLC26A4 NM_000441.2(SLC26A4):c.249G>A (p.Trp83Ter) SNV Pathogenic 370650 rs1057516658 GRCh37: 7:107303825-107303825
GRCh38: 7:107663380-107663380
13 SLC26A4 NM_000441.2(SLC26A4):c.281C>T (p.Thr94Ile) SNV Pathogenic 371034 rs1057516953 GRCh37: 7:107303857-107303857
GRCh38: 7:107663412-107663412
14 SLC26A4 NM_000441.2(SLC26A4):c.600+2T>A SNV Pathogenic 370937 rs1057516881 GRCh37: 7:107314795-107314795
GRCh38: 7:107674350-107674350
15 SLC26A4 NM_000441.2(SLC26A4):c.1341+1del Deletion Pathogenic 43505 rs397516417 GRCh37: 7:107334925-107334925
GRCh38: 7:107694480-107694480
16 SLC26A4 NM_000441.2(SLC26A4):c.2048T>C (p.Phe683Ser) SNV Pathogenic 402277 rs1060499808 GRCh37: 7:107344789-107344789
GRCh38: 7:107704344-107704344
17 SLC26A4 NM_000441.2(SLC26A4):c.1149+1del Deletion Pathogenic 402275 rs1060499807 GRCh37: 7:107329645-107329645
GRCh38: 7:107689200-107689200
18 SLC26A4 NM_000441.2(SLC26A4):c.349del (p.Leu117fs) Deletion Pathogenic 551863 rs1275009555 GRCh37: 7:107312627-107312627
GRCh38: 7:107672182-107672182
19 SLC26A4 NM_000441.2(SLC26A4):c.2118C>A (p.Cys706Ter) SNV Pathogenic 551315 rs142656144 GRCh37: 7:107350527-107350527
GRCh38: 7:107710082-107710082
20 SLC26A4 NM_000441.2(SLC26A4):c.1147del (p.Gln383fs) Deletion Pathogenic 553520 rs1374999656 GRCh37: 7:107329642-107329642
GRCh38: 7:107689197-107689197
21 SLC26A4 NM_000441.2(SLC26A4):c.1458dup (p.Ile487fs) Duplication Pathogenic 813397 rs1584331188 GRCh37: 7:107336397-107336398
GRCh38: 7:107695952-107695953
22 SLC26A4 NM_000441.2(SLC26A4):c.1746del (p.Ala584fs) Deletion Pathogenic 627476 rs1241745103 GRCh37: 7:107341584-107341584
GRCh38: 7:107701139-107701139
23 SLC26A4 NM_000441.2(SLC26A4):c.2044G>T (p.Glu682Ter) SNV Pathogenic 558657 rs1554361584 GRCh37: 7:107344785-107344785
GRCh38: 7:107704340-107704340
24 SLC26A4 NM_000441.2(SLC26A4):c.1087A>C (p.Ile363Leu) SNV Pathogenic 981949 GRCh37: 7:107329583-107329583
GRCh38: 7:107689138-107689138
25 SLC26A4 NM_000441.2(SLC26A4):c.1204G>A (p.Val402Met) SNV Pathogenic 43495 rs397516414 GRCh37: 7:107330623-107330623
GRCh38: 7:107690178-107690178
26 SLC26A4 NM_000441.2(SLC26A4):c.2174_2177dup (p.Leu727fs) Duplication Pathogenic 851431 GRCh37: 7:107350582-107350583
GRCh38: 7:107710137-107710138
27 SLC26A4 NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu) SNV Pathogenic 4842 rs111033212 GRCh37: 7:107329499-107329499
GRCh38: 7:107689054-107689054
28 SLC26A4 NM_000441.2(SLC26A4):c.416-1G>A SNV Pathogenic 371079 rs1057516988 GRCh37: 7:107314608-107314608
GRCh38: 7:107674163-107674163
29 SLC26A4 NM_000441.2(SLC26A4):c.164+2T>C SNV Pathogenic 43518 rs397516420 GRCh37: 7:107302252-107302252
GRCh38: 7:107661807-107661807
30 SLC26A4 NM_000441.2(SLC26A4):c.1489G>A (p.Gly497Ser) SNV Pathogenic 43510 rs111033308 GRCh37: 7:107336429-107336429
GRCh38: 7:107695984-107695984
31 SLC26A4 NM_000441.2(SLC26A4):c.707T>C (p.Leu236Pro) SNV Pathogenic 4817 rs80338848 GRCh37: 7:107315496-107315496
GRCh38: 7:107675051-107675051
32 SLC26A4 NM_000441.2(SLC26A4):c.1246A>C (p.Thr416Pro) SNV Pathogenic 4818 rs28939086 GRCh37: 7:107330665-107330665
GRCh38: 7:107690220-107690220
33 SLC26A4 NM_000441.2(SLC26A4):c.1001+1G>A SNV Pathogenic 4819 rs80338849 GRCh37: 7:107323983-107323983
GRCh38: 7:107683538-107683538
34 SLC26A4 NM_000441.2(SLC26A4):c.2162C>T (p.Thr721Met) SNV Pathogenic 4826 rs121908363 GRCh37: 7:107350571-107350571
GRCh38: 7:107710126-107710126
35 SLC26A4 NM_000441.2(SLC26A4):c.1334T>G (p.Leu445Trp) SNV Pathogenic 4829 rs111033307 GRCh37: 7:107334918-107334918
GRCh38: 7:107694473-107694473
36 SLC26A4 NM_000441.2(SLC26A4):c.412G>T (p.Val138Phe) SNV Pathogenic 4835 rs111033199 GRCh37: 7:107312690-107312690
GRCh38: 7:107672245-107672245
37 SLC26A4-AS1 , SLC26A4 NM_000441.2(SLC26A4):c.-3-2A>G SNV Pathogenic 43486 rs397516411 GRCh37: 7:107302082-107302082
GRCh38: 7:107661637-107661637
38 SLC26A4 NM_000441.2(SLC26A4):c.1001+1G>A SNV Pathogenic 4819 rs80338849 GRCh37: 7:107323983-107323983
GRCh38: 7:107683538-107683538
39 SLC26A4 NM_000441.2(SLC26A4):c.1229C>T (p.Thr410Met) SNV Pathogenic 43498 rs111033220 GRCh37: 7:107330648-107330648
GRCh38: 7:107690203-107690203
40 SLC26A4 NM_000441.2(SLC26A4):c.1246A>C (p.Thr416Pro) SNV Pathogenic 4818 rs28939086 GRCh37: 7:107330665-107330665
GRCh38: 7:107690220-107690220
41 SLC26A4 NM_000441.2(SLC26A4):c.412G>T (p.Val138Phe) SNV Pathogenic 4835 rs111033199 GRCh37: 7:107312690-107312690
GRCh38: 7:107672245-107672245
42 SLC26A4 NM_000441.2(SLC26A4):c.578C>T (p.Thr193Ile) SNV Pathogenic 4830 rs111033348 GRCh37: 7:107314771-107314771
GRCh38: 7:107674326-107674326
43 SLC26A4 NM_000441.2(SLC26A4):c.626G>T (p.Gly209Val) SNV Pathogenic 4821 rs111033303 GRCh37: 7:107315415-107315415
GRCh38: 7:107674970-107674970
44 SLC26A4 NM_000441.2(SLC26A4):c.707T>C (p.Leu236Pro) SNV Pathogenic 4817 rs80338848 GRCh37: 7:107315496-107315496
GRCh38: 7:107675051-107675051
45 SLC26A4 NM_000441.2(SLC26A4):c.919-2A>G SNV Pathogenic 4840 rs111033313 GRCh37: 7:107323898-107323898
GRCh38: 7:107683453-107683453
46 SLC26A4 NM_000441.2(SLC26A4):c.919-2A>G SNV Pathogenic 4840 rs111033313 GRCh37: 7:107323898-107323898
GRCh38: 7:107683453-107683453
47 SLC26A4-AS1 , SLC26A4 NM_000441.2(SLC26A4):c.85G>C (p.Glu29Gln) SNV Pathogenic 4839 rs111033205 GRCh37: 7:107302171-107302171
GRCh38: 7:107661726-107661726
48 SLC26A4 NM_000441.2(SLC26A4):c.365dup (p.Ile124fs) Duplication Pathogenic 189148 rs786204730 GRCh37: 7:107312637-107312638
GRCh38: 7:107672192-107672193
49 SLC26A4 NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His) SNV Pathogenic 43496 rs111033305 GRCh37: 7:107330645-107330645
GRCh38: 7:107690200-107690200
50 SLC26A4 NM_000441.2(SLC26A4):c.626G>T (p.Gly209Val) SNV Pathogenic 4821 rs111033303 GRCh37: 7:107315415-107315415
GRCh38: 7:107674970-107674970

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

72 (show all 41)
# Symbol AA change Variation ID SNP ID
1 SLC26A4 p.Gly209Val VAR_007440 rs111033303
2 SLC26A4 p.Leu236Pro VAR_007441 rs80338848
3 SLC26A4 p.Thr416Pro VAR_007445 rs28939086
4 SLC26A4 p.Phe667Cys VAR_007447 rs121908360
5 SLC26A4 p.Thr721Met VAR_007448 rs121908363
6 SLC26A4 p.His723Arg VAR_007449 rs121908362
7 SLC26A4 p.Thr193Ile VAR_011623 rs111033348
8 SLC26A4 p.Ser28Arg VAR_021639 rs539699299
9 SLC26A4 p.Glu29Gln VAR_021640 rs111033205
10 SLC26A4 p.Tyr78Cys VAR_021641
11 SLC26A4 p.Gly102Arg VAR_021643 rs121972428
12 SLC26A4 p.Tyr105Cys VAR_021645 rs144259999
13 SLC26A4 p.Ala106Asp VAR_021646
14 SLC26A4 p.Leu117Phe VAR_021647 rs145254330
15 SLC26A4 p.Ser133Thr VAR_021649 rs121908365
16 SLC26A4 p.Ser137Pro VAR_021650 rs155435438
17 SLC26A4 p.Val138Phe VAR_021651 rs111033199
18 SLC26A4 p.Gly139Ala VAR_021652
19 SLC26A4 p.Val239Asp VAR_021653 rs111033256
20 SLC26A4 p.Asp271His VAR_021655
21 SLC26A4 p.Phe335Leu VAR_021656 rs111033212
22 SLC26A4 p.Ser391Asn VAR_021657
23 SLC26A4 p.Arg409His VAR_021659 rs111033305
24 SLC26A4 p.Thr410Met VAR_021661 rs111033220
25 SLC26A4 p.Ala411Pro VAR_021662 rs129397173
26 SLC26A4 p.Gln446Arg VAR_021665 rs768471577
27 SLC26A4 p.Val480Asp VAR_021668
28 SLC26A4 p.Tyr530His VAR_021670 rs111033254
29 SLC26A4 p.Ser552Ile VAR_021671
30 SLC26A4 p.Tyr556Cys VAR_021672 rs763006761
31 SLC26A4 p.Tyr556His VAR_021673
32 SLC26A4 p.Cys565Tyr VAR_021674 rs111033257
33 SLC26A4 p.Val653Ala VAR_021676 rs155436101
34 SLC26A4 p.Gly672Glu VAR_021677 rs111033309
35 SLC26A4 p.Ser694Pro VAR_021680 rs981410021
36 SLC26A4 p.Asp724Asn VAR_021681 rs994170964
37 SLC26A4 p.Thr508Asn VAR_027240
38 SLC26A4 p.Gln514Arg VAR_027241 rs111033316
39 SLC26A4 p.Tyr530Ser VAR_027242 rs747636919
40 SLC26A4 p.Val402Met VAR_058580 rs397516414
41 SLC26A4 p.Met775Thr VAR_058581 rs156284584

Expression for Pendred Syndrome

Search GEO for disease gene expression data for Pendred Syndrome.

Pathways for Pendred Syndrome

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

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

GO Terms for Pendred Syndrome

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

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

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 10.09 TRPV6 SLC4A1 SLC26A8 SLC26A4 SLC26A3 SLC26A2
2 transmembrane transport GO:0055085 10 TRPV6 SLC4A1 SLC26A8 SLC26A5 SLC26A4 SLC26A3
3 chloride transmembrane transport GO:1902476 9.91 SLC4A1 SLC26A8 SLC26A5 SLC26A4 SLC26A3 SLC26A2
4 anion transmembrane transport GO:0098656 9.88 SLC4A1 SLC26A8 SLC26A5 SLC26A4 SLC26A3 SLC26A11
5 sensory perception of sound GO:0007605 9.84 SLC26A5 SLC26A4 PAX3 GJB2
6 bicarbonate transport GO:0015701 9.8 SLC4A1 SLC26A8 SLC26A5 SLC26A4 SLC26A3 SLC26A2
7 chloride transport GO:0006821 9.72 SLC4A1 SLC26A8 SLC26A3
8 anion transport GO:0006820 9.69 SLC4A1 SLC26A8 SLC26A3
9 thyroid gland development GO:0030878 9.67 TG PAX8 DUOX2
10 thyroid hormone generation GO:0006590 9.65 TPO TG DUOX2
11 hormone biosynthetic process GO:0042446 9.63 TPO TG DUOX2
12 sperm capacitation GO:0048240 9.58 SLC26A8 SLC26A3
13 positive regulation of cell motility GO:2000147 9.58 SLC26A5 DUOX2
14 potassium ion homeostasis GO:0055075 9.57 SLC12A3 KCNJ10
15 thyroid hormone metabolic process GO:0042403 9.56 TG DUOX2
16 oxalate transport GO:0019532 9.55 SLC26A8 SLC26A5 SLC26A4 SLC26A3 SLC26A2
17 iodide transport GO:0015705 9.52 TG SLC26A4
18 sulfate transmembrane transport GO:1902358 9.43 SLC26A8 SLC26A5 SLC26A4 SLC26A3 SLC26A2 SLC26A11
19 sulfate transport GO:0008272 9.1 SLC26A8 SLC26A5 SLC26A4 SLC26A3 SLC26A2 SLC26A11

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

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

Sources for Pendred Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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