Recessive X-linked Ichthyosis

Table of contents:

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

Description

Recessive X-linked ichthyosis (RXLI) is a genodermatosis belonging to the Mendelian Disorders of Cornification (MeDOC) and characterized by generalized hyperkeratosis and scaling of the skin.

Genes related to Recessive X-linked Ichthyosis

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Clinical Features

Phenotypes and symptoms related to Recessive X-linked Ichthyosis

Cryptorchidism
Hyperkeratosis
Autism
Attention deficit hyperactivity disorder
Neurological speech impairment
Dry skin
Ichthyosis
Hypohidrosis
Opacification of the corneal stroma

Incidence and onset information

— Based on the latest data available RECESSIVE X-LINKED ICHTHYOSIS have a estimated incidence of 15 per 100k worldwide.
— No data available about the known clinical features onset.

Alternative names

Recessive X-linked Ichthyosis Is also known as x-linked ichthyosis, rxli, xli, steroid sulfatase deficiency.

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.

Recessive X-linked Ichthyosis Recommended genes panels

Panel Name, Specifity and genes Tested/covered
STS. By Institute for Human Genetics University Clinic Freiburg (Germany). STS Specificity 100 % Genes 100 %
STS. MLPA testing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). STS Specificity 100 % Genes 100 %
STS. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). STS Specificity 100 % Genes 100 %
Ichthyosis, X-Linked (delection/duplication analysis of STS gene). By CGC Genetics (Portugal). STS Specificity 100 % Genes 100 %
Ichthyosis, X-linked (sequence analysis of STS gene). By CGC Genetics (Portugal). STS Specificity 100 % 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 6 % 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 6 % Genes 100 %
X-linked ichthyosis , STS. By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital (India). STS Specificity 100 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET Genetic Syndrome Finder

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