Netherton Syndrome

Incidence and onset information

Alternative names

Netherton Syndrome Is also known as erythroderma, ichthyosiform, with hypotrichosis and hyper-ige, comÈl-netherton syndrome, bamboo hair syndrome, comel-netherton syndrome, ns, netherton disease.

Researches and researchers

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

Netherton Syndrome Experts map

Current Researchs and researchers

• PARIS — Pr Alain HOVNANIAN

  Investigator of research project - Sponsor of orphan designation - Coordinator of research network - Coordinator of multinational clinical trial
  
  

  • Institution/s:
    — CHU Paris - Hôpital Necker-Enfants Malades
    — CHU Paris - Hôpital Necker-Enfants Malades
    — Institut Imagine - INSERM U1163, IMAGINE - Institut des Maladies Génétiques
  • Research area/topic::
    

    KLKIN: Netherton Syndrome; From mechanism to therapies - FR



• PARIS — Dr Eric CAMERER

  Investigator of research project
  
  

  • Institution/s:
    — PARCC - Paris-Centre de recherche Cardiovasculaire (U970)
  • Research area/topic::
    

    PAR2 signaling and associated therapeutic targets in inflammatory skin pathologies



• FREIBURG — Dr Oliver SCHILLING

  Investigator of research project
  
  

  • Institution/s:
    — Zentrum für Biochemie und Molekulare Zellforschung (ZBMZ), Albert-Ludwigs-Universität Freiburg
  • Research area/topic::
    

    KLKIN : Netherton Syndrome: From mechanisms to therapeutics - DE (partner no 3)



• ROMA — Dr May EL HACHEM

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

  • Institution/s:
    — Dipartimento di Medicina Pediatrica, IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
  • Research area/topic::
    

    Study of inherited skin disorders: molecular pathogenesis, diagnosis and genotype-phenotype correlation



• ROMA — Pr Giovanna ZAMBRUNO

  Investigator of research project - Coordinator of research network
  
  

  • Institution/s:
    — Istituto Dermopatico dell'Immacolata - IRCCS
  • Research area/topic::
    

    Netherton syndrome: from disease pathogenesis to improved diagnosis and patient care

Netherton Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
ST14. By Institute for Human Genetics University Clinic Freiburg (Germany). ST14 Specificity 100 % Genes 50 %
Hereditary ichthyosis (NGS panel of 53 genes). By CGC Genetics (Portugal). SLC27A4, SNAP29, ST14, STIM1, STS, TGM1, TGM5, SHOC2, SPINK5, SLURP1, RIN2, PSAT1, POMP, VIPAS39, SUMF1, PNPLA1, SRD5A3, PIGL Specificity 12 % Genes 100 %
Hereditary ichthyosis (NGS panel of 53 genes). By CGC Genetics (Portugal). SLC27A4, SNAP29, ST14, STIM1, STS, TGM1, TGM5, SHOC2, SPINK5, SLURP1, RIN2, PSAT1, POMP, VIPAS39, SUMF1, PNPLA1, SRD5A3, PIGL Specificity 12 % Genes 100 %
Congenital Ichthyosis and Related Disorders Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). SLC27A4, ST14, TGM1, ALOXE3, ABCA12, CLDN1, POMP, PNPLA1, ABHD5, LIPN, CERS3, CYP4F22, NIPAL4, ALOX12B, AP1S1, KRT1, KRT10, KRT2, KRT9 Specificity 6 % Genes 50 %
Ichthyosis Deletion / Duplication panel. By Connective Tissue Gene Tests (United States). ST14, STS, SULT2B1, TGM1, TGM5, ALOXE3, ABCA12, CASP14, CHST8, CDSN, POMP, PNPLA1, LIPN, CERS3, CSTA, CYP4F22, NIPAL4, FLG, KDSR, GJA1 , (...) View the complete list with 7 more genes Panel complete gene list ST14, STS, SULT2B1, TGM1, TGM5, ALOXE3, ABCA12, CASP14, CHST8, CDSN, POMP, PNPLA1, LIPN, CERS3, CSTA, CYP4F22, NIPAL4, FLG, KDSR, GJA1, GJB4, ALOX12B, KRT1, KRT10, KRT2, LOR, SERPINB8 Close Specificity 4 % Genes 50 %
Ichthyosis NGS panel. By Connective Tissue Gene Tests (United States). ST14, STS, SULT2B1, TGM1, TGM5, ALOXE3, ABCA12, CASP14, CHST8, CDSN, POMP, PNPLA1, LIPN, CERS3, CSTA, CYP4F22, NIPAL4, FLG, KDSR, GJA1 , (...) View the complete list with 7 more genes Panel complete gene list ST14, STS, SULT2B1, TGM1, TGM5, ALOXE3, ABCA12, CASP14, CHST8, CDSN, POMP, PNPLA1, LIPN, CERS3, CSTA, CYP4F22, NIPAL4, FLG, KDSR, GJA1, GJB4, ALOX12B, KRT1, KRT10, KRT2, LOR, SERPINB8 Close Specificity 4 % Genes 50 %
Ichthyosis Comprehensive panel. By Connective Tissue Gene Tests (United States). ST14, STS, SULT2B1, TGM1, TGM5, ALOXE3, ABCA12, CASP14, CHST8, CDSN, POMP, PNPLA1, LIPN, CERS3, CSTA, CYP4F22, NIPAL4, FLG, KDSR, GJA1 , (...) View the complete list with 7 more genes Panel complete gene list ST14, STS, SULT2B1, TGM1, TGM5, ALOXE3, ABCA12, CASP14, CHST8, CDSN, POMP, PNPLA1, LIPN, CERS3, CSTA, CYP4F22, NIPAL4, FLG, KDSR, GJA1, GJB4, ALOX12B, KRT1, KRT10, KRT2, LOR, SERPINB8 Close Specificity 4 % Genes 50 %
Ichthyosis, congenital, autosomal recessive, type 11. By Centogene AG - the Rare Disease Company (Germany). ST14 Specificity 100 % Genes 50 %

Sources and references

You can check the following sources for additional information.

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