Superficial Epidermolytic Ichthyosis

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

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 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 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 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 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 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 Specificity 4 % Genes 100 %