Ichthyosis Vulgaris

Table of contents:

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

Description

The most common form of ichthyosis. It is an autosomal dominant inherited or acquired disorder characterized by scaling and desquamation of the skin.

Genes related to Ichthyosis Vulgaris

FLG
FLG-AS1

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Ichthyosis Vulgaris

Fever
Hyperkeratosis
Ichthyosis
Asthma
Eczema
Epidermal acanthosis
Scaling skin
Heat intolerance
Allergic rhinitis
Eczematoid dermatitis

And another 1 symptoms. If you need more information about this disease we can help you.

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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

Ichthyosis Vulgaris Is also known as ichthyosis simplex.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Ichthyosis Vulgaris Recommended genes panels

Panel Name, Specifity and genes Tested/covered
FLG. By Institute for Human Genetics University Clinic Freiburg (Germany). FLG Specificity 100 % Genes 50 %
FLG (Filaggrin) Hot Spots. By GeneDx (United States). FLG Specificity 100 % Genes 50 %
FLG. Detection of the mutation p.Arg501X by sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). FLG Specificity 100 % Genes 50 %
FLG. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). FLG Specificity 100 % Genes 50 %
Ichthyosis Vulgaris (sequence analysis of FLG gene). By CGC Genetics (Portugal). FLG Specificity 100 % Genes 50 %
*Ichthyosis Vulgaris (p.Arg501 and p.Ser761Cysfs36 frequent mutations on FLG gene).* By CGC Genetics (Portugal). FLG Specificity 100 % 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 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 Specificity 4 % Genes 50 %

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Sources and references

You can check the following sources for additional information.

OMIM MESH Rare Disease Symptoms Checker

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