Perrault Syndrome 3; Prlts3

Description

Perrault syndrome (PRLTS) is an autosomal recessive disorder characterized by sensorineural hearing loss (SNHL) and premature ovarian failure (POF) secondary to ovarian dysgenesis. Affected males have SNHL but show normal pubertal development. A spectrum of additional clinical features, including cerebellar ataxia, learning disability, and peripheral neuropathy, have been described in some affected individuals (summary by Jenkinson et al., 2013).For a discussion of genetic heterogeneity of Perrault syndrome, see PRLTS1 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Perrault Syndrome 3; Prlts3

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Ataxia
  • Growth delay
  • Sensorineural hearing impairment
  • Spasticity
  • Peripheral neuropathy

And another 12 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Perrault Syndrome 3; Prlts3 Is also known as dfnb81, formerly, deafness, autosomal recessive 81, formerly.

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.

Perrault Syndrome 3; Prlts3 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hearing Loss Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc (United States).

BCS1L, ROR1, SALL1, SEMA3E, SIX1, SIX5, SLC12A1, SLC19A2, SLC22A4, SNAI2, SMPX, SOX10, TBX1, TCOF1, TECTA, TFAP2A, TIMM8A, TJP2, TMPRSS3, USH1C , (...)

View the complete list with 149 more genes
Specificity
1 %
Genes
100 %
NGS Hearing Loss Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SIX1, SNAI2, SMPX, SOX10, TECTA, TIMM8A, TJP2, TMPRSS3, USH1C, USH2A, CLRN1, TSPEAR, WFS1, ESPN, CDH23, CACNA1D, ACTG1, PCDH15, USH1G, WHRN , (...)

View the complete list with 70 more genes
Specificity
2 %
Genes
100 %
OtoSCOPE.

By Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics (United States).

ROR1, SIX1, SIX5, SLC22A4, SNAI2, SMPX, SOX10, TBX1, TWNK, TCOF1, TECTA, TIMM8A, TJP2, TMPRSS3, USH1C, USH2A, CLRN1, TSPEAR, WFS1, ESPN , (...)

View the complete list with 130 more genes
Specificity
1 %
Genes
100 %
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago (United States).

BCS1L, RTN2, SACS, SCN1A, SCN2A, SCN8A, SCO1, SDHA, SDHD, SLC16A2, SLC17A5, SLC19A2, SLC1A3, SLC20A2, SLC2A1, SLC6A1, SLC9A1, SLC9A6, SNAP25, SOD1 , (...)

View the complete list with 457 more genes
Specificity
1 %
Genes
100 %
OtoGenome Test for Hearing Loss (110 Genes).

By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine (United States).

BCS1L, SIX1, SNAI2, SMPX, SOX10, TECTA, TIMM8A, TMPRSS3, USH1C, USH2A, CLRN1, WFS1, ESPN, CLIC5, CDH23, CABP2, RIPOR2, CACNA1D, ACTG1, PCDH15 , (...)

View the complete list with 89 more genes
Specificity
1 %
Genes
100 %
Audiome (hearing loss panel).

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).

BCS1L, SIX1, SNAI2, SMPX, SOX10, SUCLA2, TECTA, TIMM8A, TMPRSS3, USH1C, USH2A, CLRN1, TSPEAR, WFS1, ESPN, CLIC5, CDH23, CABP2, PCDH15, OSBPL2 , (...)

View the complete list with 85 more genes
Specificity
1 %
Genes
100 %
Perrault syndrome 3 (PRLTS3, sequence analysis of CLPP gene).

By CGC Genetics (Portugal).

CLPP
Specificity
100 %
Genes
100 %
Perrault Syndrome Type 3 and Deafness, Autosomal Recessive 8 (DFNB8) via CLPP Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

CLPP
Specificity
100 %
Genes
100 %

You can get up to 16 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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