Lamellar Ichthyosis

Description

Lamellar ichthyosis (LI) is a keratinization disorder characterized by the presence of large scales all over the body without significant erythroderma.

Clinical Features

Top most frequent phenotypes and symptoms related to Lamellar Ichthyosis

  • Short stature
  • Cognitive impairment
  • Abnormality of the dentition
  • Renal insufficiency
  • Recurrent respiratory infections
  • Hyperkeratosis
  • Sparse hair
  • Pruritus
  • Hypotrichosis
  • Dry skin

And another 12 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 Lamellar Ichthyosis have a estimated prevalence of 0.55 per 100k worldwide.
No data available about the known clinical features onset.

Alternative names

Lamellar Ichthyosis Is also known as congenital lamellar ichthyosis, li, classic lamellar ichthyosis.

Researches and researchers

Doctors, researchs, and experts related to Lamellar Ichthyosis extracted from public data.

Lamellar Ichthyosis 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::

      Réseau sur le syndrome de Netherton et les ichtyoses lamellaires


  • ROMA — Dr Eleonora CANDI

    Investigator of research project

    • Institution/s:
      — A.O.U. Policlinico di Tor Vergata - Facoltà di Medicina e Chirurgia
    • Research area/topic::

      Transglutaminases and their role in the pathogenesis of lamellar ichthyosis and acral peeling skin syndrome



Mendelian

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Lamellar Ichthyosis Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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
12 %
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
12 %
TGM1.

By Institute for Human Genetics University Clinic Freiburg (Germany).

TGM1
Specificity
100 %
Genes
12 %
TGM1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

TGM1
Specificity
100 %
Genes
12 %
TGM1, ALOX12B, ALOXE3, ABCA12. NextGeneDx. Complete sequencing by NGS.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

TGM1
Specificity
100 %
Genes
12 %
Autosomal Recessive Congenital Ichthyosis (sequence analysis of TGM1 gene).

By CGC Genetics (Portugal).

TGM1
Specificity
100 %
Genes
12 %
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
6 %
Genes
12 %
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
6 %
Genes
12 %

We have 84 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Symptoms Checker

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