Recessive X-linked Ichthyosis

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.

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.


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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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