1. Mendelian
  2. Rare Diseases
  3. SUPERFICIAL EPIDERMOLYTIC ICHTHYOSIS

Superficial Epidermolytic Ichthyosis

Table of contents:

Description

Superficial epidermolytic ichthyosis (SEI) is a rare keratinopathic ichthyosis (KI; see this term) characterized by the presence of superficial blisters and erosions at birth.

Genes related to Superficial Epidermolytic Ichthyosis

  • KRT2

View recommended genes panels

Clinical Features

Phenotypes and symptoms related to Superficial Epidermolytic Ichthyosis

  • Edema
  • Erythema
  • Ichthyosis
  • Palmoplantar keratoderma
  • Abnormal blistering of the skin
  • Thin skin
  • Acantholysis

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Alternative names

Superficial Epidermolytic Ichthyosis Is also known as ichthyosis bullosa of siemens, sei.

Researches and researchers

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

Superficial Epidermolytic Ichthyosis Experts map



Current Researchs and researchers

  • LEIPZIG — Pr Thomas MAGIN

    Investigator of research project

    • Institution/s:
      — TRM Universität Leipzig
    • Research area/topic::

      Keratin diseases : Keratin-dependent regulation of protein biosynthesis and cytoskeletal organization during epithelial differentiation


Superficial Epidermolytic Ichthyosis Recommended genes panels

Panel Name, Specifity and genes Tested/covered
KRT2.

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

KRT2
Specificity
100 %
Genes
100 %
KRT2. Complete sequencing.

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

KRT2
Specificity
100 %
Genes
100 %
Ichthyosis bullosa of Siemens (sequence analysis of KRT2 gene).

By CGC Genetics (Portugal).

KRT2
Specificity
100 %
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
100 %
Ichthyosis Bullosa, Siemens via KRT2 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

KRT2
Specificity
100 %
Genes
100 %
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
100 %
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
100 %
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
100 %

You can get up to 10 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Search Engine

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