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.


Mendelian

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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 in Germany.

STS
Specificity
100 %
Genes
100 %
STS. MLPA testing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

STS
Specificity
100 %
Genes
100 %
STS. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

STS
Specificity
100 %
Genes
100 %
Ichthyosis, X-Linked (delection/duplication analysis of STS gene).

By CGC Genetics in Portugal.

STS
Specificity
100 %
Genes
100 %
Ichthyosis, X-linked (sequence analysis of STS gene).

By CGC Genetics in Portugal.

STS
Specificity
100 %
Genes
100 %
Hereditary ichthyosis (NGS panel of 53 genes).

By CGC Genetics in Portugal.

SRD5A3, SHOC2, SUMF1, TGM1, VIPAS39, STIM1, TGM5, PIGL, RIN2, SNAP29, SLC27A4, SPINK5, SLURP1, STS, PNPLA1, POMP, ST14, PSAT1
Specificity
6 %
Genes
100 %
Hereditary ichthyosis (NGS panel of 53 genes).

By CGC Genetics in Portugal.

SRD5A3, SHOC2, SUMF1, TGM1, VIPAS39, STIM1, TGM5, PIGL, RIN2, SNAP29, SLC27A4, SPINK5, SLURP1, STS, PNPLA1, POMP, ST14, PSAT1
Specificity
6 %
Genes
100 %
X-linked ichthyosis , STS.

By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital in India.

STS
Specificity
100 %
Genes
100 %
Ichthyosis, X-Linked.

By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital in India.

STS
Specificity
100 %
Genes
100 %
Ichthyosis Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

ABCA12, TGM1, GJB3, GJA1, TGM5, CHST8, CDSN, ALOX12B, KRT10, NIPAL4, KRT1, CERS3, LOR, STS, ALOXE3, PNPLA1, KRT2, CYP4F22, POMP, GJB4 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
Ichthyosis NGS panel.

By Connective Tissue Gene Tests in United States.

ABCA12, TGM1, GJB3, GJA1, TGM5, CHST8, CDSN, ALOX12B, KRT10, NIPAL4, KRT1, CERS3, LOR, STS, ALOXE3, PNPLA1, KRT2, CYP4F22, POMP, GJB4 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
Ichthyosis Comprehensive panel.

By Connective Tissue Gene Tests in United States.

ABCA12, TGM1, GJB3, GJA1, TGM5, CHST8, CDSN, ALOX12B, KRT10, NIPAL4, KRT1, CERS3, LOR, STS, ALOXE3, PNPLA1, KRT2, CYP4F22, POMP, GJB4 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
X-linked Ichthyosis with steryl-sulfatase deficiency.

By Molecular Genetics Laboratory BC Children's and BC Women's Hospitals in Canada.

STS
Specificity
100 %
Genes
100 %
Ichthyosis, X-linked.

By Centogene AG - the Rare Disease Company in Germany.

STS
Specificity
100 %
Genes
100 %
CentoICU platinum plus.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
100 %
CentoICU platinum.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
100 %
Ichthyoses and related disorders of cornification Panel.

By CeGaT GmbH in Germany.

ABCA12, ELOVL4, DSP, TAT, ABHD5, ALDH3A2, PHYH, ALMS1, GJB2, GJB6, SUMF1, TGM1, ATP2A2, ERCC2, ERCC3, GJB3, MBTPS2, EBP, NSDHL, CTSC , (...)

View the complete list with 45 more genes
Specificity
2 %
Genes
100 %
ICHTHYOSIS, X-LINKED (STS).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

STS
Specificity
100 %
Genes
100 %
ICHTHYOSIS, X-LINKED (STS MLPA).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

STS
Specificity
100 %
Genes
100 %
STS.

By Division Human Genetics Medical University Innsbruck in Austria.

STS
Specificity
100 %
Genes
100 %
qChip.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

FMR1, UBE3A, APC, PTEN, TP53, FOXL2, EYA1, COL2A1, OCA2, APP, WT1, PAX6, RB1, LEMD3, HNF1B, ELN, OCRL, PITX2, JAG1, NDP , (...)

View the complete list with 106 more genes
Specificity
1 %
Genes
100 %
Ichthyosis, X-linked: STS gene deletions-duplications analysis (MLPA).

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

STS
Specificity
100 %
Genes
100 %
NEPHROTIC SYNDROME.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

WT1, COQ6, MPV17, NPHS2, NPHS1, INF2, LAMB2, PLCE1, TRPC6, CD2AP, ITGA3, STS, MYO1E, ARHGDIA, PTPRO
Specificity
7 %
Genes
100 %
STS.

By Fulgent Genetics Fulgent Genetics in United States.

STS
Specificity
100 %
Genes
100 %
X-chromosome High Resolution microarray analysis.

By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center in United States.

ATP7A, OPN1MW, CHM, GPR143, HSD17B10, OCRL, CACNA1F, NDP, HPRT1, NHS, ALAS2, RPGR, MECP2, RS1, PHKA2, RP2, OTC, HCCS, PDHA1, GK , (...)

View the complete list with 140 more genes
Specificity
1 %
Genes
100 %
Ichthyosis Panel.

By Blueprint Genetics in Finland.

ABCA12, ABHD5, ALDH3A2, PHYH, GJB2, PEX7, SUMF1, TGM1, ERCC2, GJB3, MBTPS2, EBP, GJA1, CDSN, ALOX12B, KRT9, SLC27A4, KRT10, NIPAL4, SPINK5 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Ichthyosis, X-linked.

By Bioarray in Spain.

STS
Specificity
100 %
Genes
100 %
Rapid microarray (CGH and SNP).

By Allele Diagnostics Allele Diagnostics in United States.

FMR1, UBE3A, VHL, APC, PTEN, TP53, USH1C, ATP7A, FOXL2, HBB, EYA1, OCA2, WT1, PAX6, CHM, RB1, HNF1B, RET, ELN, OCRL , (...)

View the complete list with 153 more genes
Specificity
1 %
Genes
100 %
High-Resolution Rapid Microarray (CGH and SNP).

By Allele Diagnostics Allele Diagnostics in United States.

FMR1, UBE3A, VHL, APC, PTEN, TP53, USH1C, ATP7A, FOXL2, HBB, EYA1, OCA2, WT1, PAX6, CHM, RB1, HNF1B, RET, ELN, OCRL , (...)

View the complete list with 153 more genes
Specificity
1 %
Genes
100 %
ICHTHYOSIS (X-LINKED).

By Laboratorio de Genetica Clinica SL in Spain.

STS
Specificity
100 %
Genes
100 %
X-Linked Ichthyosis , Sequencing STS Gene.

By Reference Laboratory Genetics in Spain.

STS
Specificity
100 %
Genes
100 %
X-Linked Ichthyosis , Deletions-Duplications (MLPA) STS Gene.

By Reference Laboratory Genetics in Spain.

STS
Specificity
100 %
Genes
100 %
Congenital Ichthyosis and related disorders , Panel Massive Sequencing (NGS) 33 Genes.

By Reference Laboratory Genetics in Spain.

ABCA12, PHYH, GJB2, PEX7, SUMF1, TGM1, ERCC3, GJB3, EBP, TGM5, CLDN1, SNAP29, ALOX12B, KRT9, SLC27A4, KRT10, NIPAL4, SPINK5, KRT1, LOR , (...)

View the complete list with 13 more genes
Specificity
4 %
Genes
100 %

Alternate names

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



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