Netherton Syndrome

Description

Netherton syndrome (NS) is a skin disorder characterized by congenital ichthyosiform erythroderma (CIE), a distinctive hair shaft defect (trichorrhexis invaginata; TI) and atopic manifestations.

Clinical Features

Top most frequent phenotypes and symptoms related to Netherton Syndrome

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Growth delay
  • Failure to thrive
  • Fever
  • Recurrent infections
  • Alopecia
  • Recurrent respiratory infections

And another 50 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 Netherton Syndrome have a estimated birth prevalence of 0.5 per 100k worldwide.
No data available about the known clinical features onset.

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



Mendelian

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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
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
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
Specificity
4 %
Genes
50 %
Ichthyosis, congenital, autosomal recessive, type 11.

By Centogene AG - the Rare Disease Company (Germany).

ST14
Specificity
100 %
Genes
50 %

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Sources and references

You can check the following sources for additional information.

OMIM MESH ORPHANET Rare Disease Symptoms Checker

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