PDS
MCID: PND002
MIFTS: 60

Pendred Syndrome (PDS) malady

Ear, Endocrine, Fetal categories

Summaries for Pendred Syndrome

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 64Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 Pendred syndrome is a disorder typically associated with hearing loss and a thyroid condition called goiter. other abnormalities of the inner ear are also common in pendred syndrome. some affected individuals have problems with balance caused by dysfunction of the part of the inner ear that helps maintain the body's balance and orientation (the vestibular system). additionally, a structure called the vestibular aqueduct is unusually large in people with pendred syndrome. mutations in the slc26a4 gene cause about half of all familial cases of pendred syndrome. in some cases, the cause of pendred syndrome is unknown. researchers are looking for additional genetic changes that may underlie the condition. pendred syndrome is inherited in an autosomal recessive pattern. last updated: 7/26/2011

MalaCards: Pendred Syndrome, also known as goiter-deafness syndrome, is related to pendred syndrome/dfnb4 and enlarged vestibular aqueduct, and has symptoms including autosomal recessive inheritance, intellectual deficit/mental/psychomotor retardation/learning disability and ataxia/incoordination/trouble of the equilibrium. An important gene associated with Pendred Syndrome is SLC26A4 (solute carrier family 26 (anion exchanger), member 4), and among its related pathways are Insulin secretion and Regulation of thyroid hormone activity. The compounds iodotyrosine and diiodotyrosine have been mentioned in the context of this disorder. Affiliated tissues include thyroid, and related mouse phenotypes are hearing/vestibular/ear and no phenotypic analysis.

Genetics Home Reference:21 Pendred syndrome is a disorder typically associated with hearing loss and a thyroid condition called 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 gland to malfunction.

Wikipedia:64 Pendred syndrome or Pendred disease is a genetic disorder leading to congenital bilateral (both sides)... more...

Description from OMIM:47 274600

Aliases & Classifications for Pendred Syndrome

Sources:
64Wikipedia, 43NIH Rare Diseases, 22GTR, 21Genetics Home Reference, 47OMIM, 45Novoseek, 49Orphanet, 61UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Ear, Endocrine


Characteristics (Orphanet epidemiological data):

49
pendred syndrome:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

pendred syndrome 64 43 22 21 47 45 49
goiter-deafness syndrome 64 43 21
deafness with goiter 64 43 21
autosomal recessive sensorineural hearing impairment and goiter 64 21
pendred's syndrome 21 61
complete hearing loss 61
goiter - deafness 49
pds 43


External Ids:

OMIM47 274600
MESH via Orphanet36 C536648
ICD10 via Orphanet26 E07.1
SNOMED-CT via Orphanet58 70348004
UMLS via Orphanet62 C0271829

Related Diseases for Pendred Syndrome

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 131)
idRelated DiseaseScoreTop Affiliating Genes
1pendred syndrome/dfnb430.7SLC26A4
2enlarged vestibular aqueduct30.7SLC26A4, GJB2
3sensorineural hearing loss30.4MITF, COL4A5, SLC26A4, TPO, GJB2
4congenital hypothyroidism30.2DUOX2, PAX8, TPO, TG
5hypokalemia30.0SLC12A3
6thyroiditis30.0TPO, TG
7autoimmune thyroiditis30.0TPO, TG
8papillary carcinoma30.0SLC26A4, PAX8, TPO, TG
9osteoporosis29.8SLC12A3, SLC26A2, MITF
10n syndrome10.6
11parkinson's disease10.5
12char syndrome10.4
13paroxysmal dyskinesia10.3
14pyridoxine-dependent epilepsy10.2
15prolidase deficiency10.2
16thyroid hormone resistance syndrome10.2
17foxi1-related pendred syndrome10.2
18kcnj10-related pendred syndrome10.2
19slc26a4-related pendred syndrome10.2
20sleep disorder10.2
21tremor10.2
22x-linked nonsyndromic deafness10.1
23congenital deafness with labyrinthine aplasia, microtia, and microdontia10.1
24otof-related deafness10.1
25deafness with labyrinthine aplasia microtia and microdontia10.1
26dfnb110.1
27deafness, x-linked 210.1
28keratoderma palmoplantar deafness10.1
29familial deafness10.1
30osteochondroma10.1
31renal tubular acidosis with deafness10.1
32deafness, autosomal recessive 9810.1
33deafness, x-linked 410.1
34deafness, x-linked 310.1
35deafness, x-linked 110.1
36deafness, x-linked 510.1
37deafness, y-linked 110.1
38rare deafness10.1
39good syndrome10.0
40adult syndrome10.0
41asthma10.0
42townes-brocks syndrome10.0
43young syndrome10.0
44neonatal hypothyroidism10.0
45essential tremor10.0
46pathological gambling10.0
47squamous cell carcinoma10.0
48tuberculosis10.0
49corticobasal degeneration10.0
50pigment-dispersion syndrome10.0

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



Diseases related to pendred syndrome

Clinical Features for Pendred Syndrome

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

274600

Clinical synopsis from OMIM:

274600

Symptoms:

49 (show all 14)
  • autosomal recessive inheritance
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • ataxia/incoordination/trouble of the equilibrium
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • hypothyroidy
  • sensorineural deafness/hearing loss
  • renal disease/nephropathy
  • structural anomalies of inner ear/cochlea/vestible/semicircular canals
  • goiter
  • dizziness
  • hyperparathyroidy
  • tracheal atresia/stenosis
  • thyroid neoplasm/tumor/carcinoma/cancer

Drugs & Therapeutics for Pendred Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Pendred Syndrome

Drug clinical trials:

Search ClinicalTrials for Pendred Syndrome

Search NIH Clinical Center for Pendred Syndrome

Search CenterWatch for Pendred Syndrome

Genetic Tests for Pendred Syndrome

Sources:
22GTR
See all sources

Genetic tests related to Pendred Syndrome:

id Genetic test Affiliating Genes
1 Pendred's Syndrome22

Anatomical Context for Pendred Syndrome

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Pendred Syndrome:

33
Thyroid

Animal Models for Pendred Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Pendred Syndrome

Sources:
51PubMed
See all sources

Articles related to Pendred Syndrome:

(show top 50)    (show all 135)
idTitleAuthorsYear
1
SLC26A4 mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutations. (23336812)
2013
2
Pendred syndrome with retrosternal goitre- a rare case report. (24426607)
2013
3
An unfortunate case of Pendred syndrome. (21745434)
2011
4
Life-threatening metabolic alkalosis in Pendred syndrome. (21551164)
2011
5
SLC26A4 mutation spectrum associated with DFNB4 deafness and Pendred's syndrome in Pakistanis. (19287372)
2009
6
Functional characterization of wild-type and mutated pendrin (SLC26A4), the anion transporter involved in Pendred syndrome. (19608655)
2009
7
Pendred syndrome in two Galician families: insights into clinical phenotypes through cellular, genetic, and molecular studies. (17940114)
2008
8
Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA. (19017801)
2008
9
Thyroidectomy in a patient with multinodular dyshormonogenetic goitre--a case of Pendred syndrome confirmed by mutations in the PDS/SLC26A4 gene. (19189692)
2008
10
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
11
Pendred syndrome among patients with congenital hypothyroidism detected by neonatal screening: identification of two novel PDS/SLC26A4 mutations. (17876604)
2008
12
Two common and three novel PDS mutations in Thai patients with Pendred syndrome. (18250610)
2007
13
Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4). (17503324)
2007
14
Comparison of MRI findings with traditional criteria in diagnosis of Pendred syndrome. (17365057)
2007
15
The H723R mutation in the PDS/SLC26A4 gene is associated with typical Pendred syndrome in Korean patients. (17322586)
2006
16
Long-term follow-up in patients with Pendred syndrome: vestibular, auditory and other phenotypes. (15747138)
2005
17
SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities. (15689455)
2005
18
Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity. (15355436)
2004
19
Enlarged endolymphatic duct and sac syndrome: relationship between MR findings and genotype of mutation in Pendred syndrome gene. (14972391)
2004
20
Loss of KCNJ10 protein expression abolishes endocochlear potential and causes deafness in Pendred syndrome mouse model. (15320950)
2004
21
Neuro-otological findings in Pendred syndrome. (12641391)
2003
22
Pendred syndrome. (16444159)
2003
23
Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese. (14508505)
2003
24
Mutations of the PDS gene, encoding pendrin, are associated with protein mislocalization and loss of iodide efflux: implications for thyroid dysfunction in Pendred syndrome. (11932316)
2002
25
Differential diagnosis between Pendred and pseudo-Pendred syndromes: clinical, radiologic, and molecular studies. (11919333)
2002
26
Retention of pendrin in the endoplasmic reticulum is a major mechanism for Pendred syndrome. (12354788)
2002
27
Expression of PDS/Pds, the Pendred syndrome gene, in endometrium. (11836344)
2002
28
Long-term audiological feature in Pendred syndrome caused by PDS mutation. (11405873)
2001
29
Aggressive metastatic follicular thyroid carcinoma with anaplastic transformation arising from a long-standing goiter in a patient with Pendred's syndrome. (11716048)
2001
30
Pendred syndrome: phenotypic variability in two families carrying the same PDS missense mutation. (10602116)
2000
31
Mutations of the Pendred syndrome gene (PDS) in patients with large vestibular aqueduct. (11603758)
2000
32
Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4). (10861298)
2000
33
A novel mutation in the pendrin gene associated with Pendred's syndrome. (10718825)
2000
34
Prevalence, age of onset, and natural history of thyroid disease in Pendred syndrome. (10465108)
1999
35
The Pendred syndrome gene encodes a chloride-iodide transport protein. (10192399)
1999
36
Histopathological findings suggest the diagnosis in an atypical case of Pendred syndrome. (10607000)
1999
37
Expression pattern of the mouse ortholog of the Pendred's syndrome gene (Pds) suggests a key role for pendrin in the inner ear. (10449762)
1999
38
Splice-site mutation in the PDS gene may result in intrafamilial variability for deafness in Pendred syndrome. (10571950)
1999
39
Pendred's syndrome: identification of the genetic defect a century after its recognition. (10037079)
1999
40
Progressive sensorineural hearing loss and a widened vestibular aqueduct in Pendred syndrome. (9604973)
1998
41
Progressive hearing loss, hypoplasia of the cochlea and widened vestibular aqueducts are very common features in Pendred's syndrome. (9849679)
1998
42
Molecular analysis of the PDS gene in Pendred syndrome (sensorineural hearing loss and goitre). (9618167)
1998
43
Radiological malformations of the ear in Pendred syndrome. (9585042)
1998
44
Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). (9398842)
1997
45
The gene for Pendred syndrome is located between D7S501 and D7S692 in a 1.7-cM region on chromosome 7q. (9070918)
1997
46
Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4. (8630497)
1996
47
Pendred syndrome maps to chromosome 7q21-34 and is caused by an intrinsic defect in thyroid iodine organification. (8630498)
1996
48
Pendred syndrome. (9004139)
1996
49
Pendred Syndrome/DFNB4 (20301640)
1993
50
Pendred syndrome (hereditary goiter and deafness). (5173174)
1971

Genetic Variations for Pendred Syndrome

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Pendred Syndrome:

63 (show all 43)
id Symbol AA change Variation SNP ID
1SLC26A4p.Gly209ValVAR_007440
2SLC26A4p.Leu236ProVAR_007441
3SLC26A4p.Glu384GlyVAR_007444
4SLC26A4p.Thr416ProVAR_007445rs28939086
5SLC26A4p.Phe667CysVAR_007447
6SLC26A4p.Thr721MetVAR_007448
7SLC26A4p.His723ArgVAR_007449rs121908362
8SLC26A4p.Thr193IleVAR_011623
9SLC26A4p.Leu445TrpVAR_011624
10SLC26A4p.Ser28ArgVAR_021639
11SLC26A4p.Glu29GlnVAR_021640
12SLC26A4p.Tyr78CysVAR_021641
13SLC26A4p.Gly102ArgVAR_021643
14SLC26A4p.Tyr105CysVAR_021645
15SLC26A4p.Ala106AspVAR_021646
16SLC26A4p.Leu117PheVAR_021647rs145254330
17SLC26A4p.Ser133ThrVAR_021649
18SLC26A4p.Ser137ProVAR_021650
19SLC26A4p.Val138PheVAR_021651
20SLC26A4p.Gly139AlaVAR_021652
21SLC26A4p.Val239AspVAR_021653
22SLC26A4p.Asp271HisVAR_021655
23SLC26A4p.Phe335LeuVAR_021656rs111033212
24SLC26A4p.Ser391AsnVAR_021657
25SLC26A4p.Arg409HisVAR_021659
26SLC26A4p.Thr410MetVAR_021661
27SLC26A4p.Ala411ProVAR_021662
28SLC26A4p.Gln446ArgVAR_021665
29SLC26A4p.Val480AspVAR_021668
30SLC26A4p.Tyr530HisVAR_021670
31SLC26A4p.Ser552IleVAR_021671
32SLC26A4p.Tyr556CysVAR_021672
33SLC26A4p.Tyr556HisVAR_021673
34SLC26A4p.Cys565TyrVAR_021674
35SLC26A4p.Val653AlaVAR_021676
36SLC26A4p.Gly672GluVAR_021677
37SLC26A4p.Ser694ProVAR_021680
38SLC26A4p.Asp724AsnVAR_021681
39SLC26A4p.Thr508AsnVAR_027240
40SLC26A4p.Gln514ArgVAR_027241
41SLC26A4p.Tyr530SerVAR_027242
42SLC26A4p.Val402MetVAR_058580
43SLC26A4p.Met775ThrVAR_058581

Expression for genes affiliated with Pendred Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Pendred Syndrome

Search GEO for disease gene expression data for Pendred Syndrome.

Pathways for genes affiliated with Pendred Syndrome

Sources:
30KEGG, 54Reactome
See all sources

Compounds for genes affiliated with Pendred Syndrome

Sources:
45Novoseek, 24HMDB, 11DrugBank, 2BitterDB, 50PharmGKB
See all sources

Compounds related to Pendred Syndrome according to GeneCards/GeneDecks:

(show all 28)
idCompoundScoreTop Affiliating Genes
1iodotyrosine45 2411.2TG, TPO
2diiodotyrosine4510.1TPO, TG
3formate4510.0SLC26A2, SLC26A4, SLC26A5
4Liothyronine11 2410.9DIO2, TPO
5chromium459.9TG, TPO
6propylthiouracil45 2 1111.9DIO2, TPO, TG
7125i459.8TG, TPO, DIO2
8perchlorate459.8TG, TPO, SLC26A4, DUOX2
9gliadin459.8TPO, TG
10oxalate459.8SLC4A1, SLC26A5, SLC26A4, SLC26A2
11methimazole45 2 1111.8DIO2, TPO, TG
12chlorine45 2410.7SLC12A3, SLC26A3, SLC26A5, SLC26A4
13selenium45 2410.7DIO2, TPO, TG
14triiodothyronine459.7TG, TPO, SLC26A4, DIO2
15sodium iodide459.6DUOX2, SLC26A4, PAX8, TPO, TG
16bicarbonate459.6SLC4A1, SLC26A3, SLC26A5, SLC26A4, SLC26A2
17sulfate45 2410.6SLC4A1, SLC26A3, SLC26A5, SLC26A4, SLC26A2
18iodine45 2410.5DIO2, DUOX2, SLC26A4, TPO, TG
19thyroxine45 2410.5TG, TPO, PAX8, SLC26A4, DIO2
20ribonucleic acid459.4TG, TPO, PAX8, DIO2
21potassium45 11 2411.2TPO, SLC12A3, SLC4A1, GJB2
22forskolin45 50 1111.1TPO, PAX8, GJB2, DIO2
23sodium45 249.8DUOX2, SLC4A1, SLC12A3, SLC26A4, PAX8, TPO
24iodide45 249.8TG, DIO2, DUOX2, SLC26A5, SLC26A4, SLC26A2
25chloride458.7GJB2, SLC4A1, SLC12A3, SLC26A3, SLC26A5, SLC26A4
26cysteine458.2COL4A5, DIO2, SLC4A1, SLC26A2, PAX3, TPO
27calcium45 50 11 2410.4DIO2, DUOX2, TRPV6, MITF, GJB2, SLC12A3
28tyrosine457.0DIO2, BAMBI, MITF, SLC4A1, SLC26A4, PAX3

GO Terms for genes affiliated with Pendred Syndrome

Sources:
16Gene Ontology
See all sources

Cellular components related to Pendred Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1apical plasma membraneGO:0163249.2KCNJ10, DUOX2, SLC12A3, SLC26A3, SLC26A4
2integral to plasma membraneGO:0058877.8SLC26A2, SLC12A3, SLC4A1, TRPV6, KCNJ10, PTPRJ
3plasma membraneGO:0058866.9KCNJ10, PTPRJ, SLC26A2, SLC26A4, SLC26A3, SLC12A3

Biological processes related to Pendred Syndrome according to GeneCards/GeneDecks:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1membrane hyperpolarizationGO:06008110.0SLC26A3, KCNJ10
2hydrogen peroxide catabolic processGO:04274410.0TPO, DUOX2
3anion transportGO:00682010.0SLC26A3, SLC4A1
4sulfate transportGO:0082729.8SLC26A3, SLC26A5, SLC26A4, SLC26A2
5thyroid gland developmentGO:0308789.6TG, PAX8
6hormone biosynthetic processGO:0424469.6TG, TPO, DUOX2, DIO2
7thyroid hormone generationGO:0065909.5DIO2, DUOX2, TPO, TG
8sensory perception of soundGO:0076059.4GJB2, SLC26A5, SLC26A4, PAX3
9ion transportGO:0068119.3SLC26A2, SLC26A4, SLC26A3, SLC12A3, SLC4A1
10transmembrane transportGO:0550859.1SLC4A1, SLC12A3, SLC26A3, SLC26A4, SLC26A2

Molecular functions related to Pendred Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1peroxidase activityGO:00460110.0TPO, DUOX2
2anion:anion antiporter activityGO:0153019.8SLC26A3, SLC4A1
3sulfate transmembrane transporter activityGO:0151169.8SLC26A2, SLC26A4
4chloride transmembrane transporter activityGO:0151089.7SLC4A1, SLC26A3, SLC26A4
5secondary active sulfate transmembrane transporter activityGO:0082719.7SLC26A2, SLC26A4, SLC26A5, SLC26A3

Products for genes affiliated with Pendred Syndrome

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Pendred Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet