Pendred Syndrome

Description

Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter.

Clinical Features

Top most frequent phenotypes and symptoms related to Pendred Syndrome

  • Intellectual disability
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Respiratory insufficiency
  • Dilatation
  • Abnormality of metabolism/homeostasis
  • Hypothyroidism
  • Carcinoma
  • Neurological speech impairment

And another 21 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available Pendred Syndrome have a estimated prevalence of 7 per 100k worldwide.
No data available about the known clinical features onset.

Alternative names

Pendred Syndrome Is also known as thyroid hormonogenesis, genetic defect in, 2b, goiter-deafness syndrome, deafness with goiter, tdh2b, hypothyroidism, congenital, due to dyshormonogenesis, 2b, thyroid dyshormonogenesis 2b.

Researches and researchers

Doctors, researchs, and experts related to Pendred Syndrome extracted from public data.

Pendred Syndrome Experts map



Current Researchs and researchers

  • AARAU — Dr Nicolas GÜRTLER

    Coordinator of expert centre - Clinical expert - Investigator of research project

    • Institution/s:
      — Universitäts-Kinderspital beider Basel UKBB
      — Zentrum für Labormedizin, Kantonsspital Aarau
    • Research area/topic::

      Hereditary Hearing Loss: linkage analysis, mapping of genes


  • BASEL — Dr Nicolas GÜRTLER

    Coordinator of expert centre - Clinical expert - Investigator of research project

    • Institution/s:
      — Universitäts-Kinderspital beider Basel UKBB
      — Zentrum für Labormedizin, Kantonsspital Aarau
    • Research area/topic::

      Hereditary Hearing Loss: linkage analysis, mapping of genes


  • SIOUX FALLS — Pr Kameswaran SURENDRAN

    Investigator of research project

    • Institution/s:
      — Sanford Children's Health Research Center, Sanford Research
    • Research area/topic::

      The molecular regulators of kidney collecting duct differentiation



Mendelian

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Pendred Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
25 %
GeneAware Complete Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories (United States).

RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, BTK , (...)

View the complete list with 139 more genes
Specificity
1 %
Genes
25 %
GeneAware Complete Panel Version 2 (Male).

By Baylor Miraca Genetics Laboratories (United States).

RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, TGM1 , (...)

View the complete list with 129 more genes
Specificity
1 %
Genes
25 %
Hearing Loss Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc (United States).

BCS1L, ROR1, SALL1, SEMA3E, SIX1, SIX5, SLC12A1, SLC19A2, SLC22A4, SNAI2, SMPX, SOX10, TBX1, TCOF1, TECTA, TFAP2A, TIMM8A, TJP2, TMPRSS3, USH1C , (...)

View the complete list with 149 more genes
Specificity
2 %
Genes
75 %
NGS Hearing Loss Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SIX1, SNAI2, SMPX, SOX10, TECTA, TIMM8A, TJP2, TMPRSS3, USH1C, USH2A, CLRN1, TSPEAR, WFS1, ESPN, CDH23, CACNA1D, ACTG1, PCDH15, USH1G, WHRN , (...)

View the complete list with 70 more genes
Specificity
4 %
Genes
75 %
Pendred syndrome (SLC26A4 Sequencing).

By Center for Human Genetics, Inc (United States).

SLC26A4
Specificity
100 %
Genes
25 %
Pendred Syndrome - SLC26A4 Sequencing.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado (United States).

SLC26A4
Specificity
100 %
Genes
25 %
Pendred Syndrome - SLC26A4 Del/Dup Analysis.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado (United States).

SLC26A4
Specificity
100 %
Genes
25 %

We have 163 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET MESH OMIM Rare Disease Search Engine

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