Syndromic Recessive X-linked Ichthyosis

Description

Syndromic recessive X-linked ichthyosis (RXLI) refers to the cases of RXLI (see this term) that are associated with extracutaneous manifestations as part of a syndrome.

Clinical Features

Top most frequent phenotypes and symptoms related to Syndromic Recessive X-linked Ichthyosis

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Cryptorchidism
  • Renal insufficiency
  • Hypogonadism
  • Hyperkeratosis
  • Autism
  • Attention deficit hyperactivity disorder

And another 11 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available SYNDROMIC RECESSIVE X-LINKED ICHTHYOSIS have a estimated prevalence of 1.3 per 100k worldwide.
No data available about the known clinical features onset.

Alternative names

Syndromic Recessive X-linked Ichthyosis Is also known as recessive x-linked ichthyosis with extracutaneous manifestations, syndromic rxli.

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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Syndromic 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 Rare Disease Search Engine

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