Syndromic 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

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.

Genes related to Syndromic Recessive X-linked Ichthyosis

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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.

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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