CLPP gene related symptoms and diseases

All the information presented here about the CLPP gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to CLPP gene

Symptoms // Phenotype % Cases
Amenorrhea Very Common - Between 80% and 100% cases
Peripheral neuropathy Very Common - Between 80% and 100% cases
Hearing impairment Very Common - Between 80% and 100% cases
Primary amenorrhea Very Common - Between 80% and 100% cases
Ataxia Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with CLPP gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Sensorineural hearing impairment
  • Short stature
  • Spasticity
  • Delayed puberty
  • Secondary amenorrhea
  • Not very common - Between 30% and 50% cases

  • Retinal atrophy
  • Increased circulating gonadotropin level
  • Severe sensorineural hearing impairment

And 52 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to CLPP gene

Here you will find a list of rare diseases related to the CLPP. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


PERRAULT SYNDROME


Alternate names

PERRAULT SYNDROME Is also known as ovarian dysgenesis with sensorineural deafness, gonadal dysgenesis, xx type, with deafness, xx gonodal dysgenesis-deafness syndrome

Description

Perrault syndrome (PS) is characterized by the association of ovarian dysgenesis in females with sensorineural hearing impairment. In more recent PS reports, some authors have described neurologic abnormalities, notably progressive cerebellar ataxia and intellectual deficit.

Most common symptoms of PERRAULT SYNDROME

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Ataxia


More info about PERRAULT SYNDROME

SOURCES: ORPHANET OMIM

PERRAULT SYNDROME 3; PRLTS3


Alternate names

PERRAULT SYNDROME 3; PRLTS3 Is also known as dfnb81, formerly, deafness, autosomal recessive 81, formerly

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 ).

Most common symptoms of PERRAULT SYNDROME 3; PRLTS3

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


More info about PERRAULT SYNDROME 3; PRLTS3

SOURCES: OMIM


Potential gene panels for CLPP gene

Hearing Loss Advanced Sequencing and CNV Evaluation Panel

United States.

By Athena Diagnostics Inc Hearing Loss Advanced Sequencing and CNV Evaluation that also includes the following genes: BCS1L ROR1 SALL1 SEMA3E SIX1 SIX5 SLC12A1 SLC19A2 SLC22A4 SNAI2

More info about this panel

NGS Hearing Loss Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Hearing Loss Panel that also includes the following genes: SIX1 SNAI2 SMPX SOX10 TECTA TIMM8A TJP2 TMPRSS3 USH1C USH2A

More info about this panel

OtoSCOPE Panel

United States.

By Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics OtoSCOPE that also includes the following genes: ROR1 SIX1 SIX5 SLC22A4 SNAI2 SMPX SOX10 TBX1 TWNK TCOF1

More info about this panel

Ataxia Exome Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2

More info about this panel

OtoGenome Test for Hearing Loss (110 Genes) Panel

United States.

By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine OtoGenome Test for Hearing Loss (110 Genes) that also includes the following genes: BCS1L SIX1 SNAI2 SMPX SOX10 TECTA TIMM8A TMPRSS3 USH1C USH2A

More info about this panel

Audiome (hearing loss panel) Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Audiome (hearing loss panel) that also includes the following genes: BCS1L SIX1 SNAI2 SMPX SOX10 SUCLA2 TECTA TIMM8A TMPRSS3 USH1C

More info about this panel

Perrault syndrome 3 (PRLTS3, sequence analysis of CLPP gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the CLPP gene.

More info about this panel

Perrault Syndrome Type 3 and Deafness, Autosomal Recessive 8 (DFNB8) via CLPP Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the CLPP gene.

More info about this panel

Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection that also includes the following genes: SCP2 AIMP1 SDHB SLC16A2 SLC17A5 SLC25A1 SLC25A12 SLC25A4 SOX10 SPG11

More info about this panel

Female Infertility Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Female Infertility Sequencing Panel with CNV Detection that also includes the following genes: BMP15 SEMA3A SEMA3E FOXL2 SOX10 SOX2 SOX3 SOX9 SRA1 SRD5A2

More info about this panel

Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP15 BMP4 SEMA3A SEMA3E BMP7 FOXL2 BRDT SOS1

More info about this panel

Premature Ovarian Failure (POF) Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Premature Ovarian Failure (POF) Sequencing Panel with CNV Detection that also includes the following genes: BMP15 FOXL2 STAG3 MCM8 PSMC3IP HFM1 CLPP MCM9 NOBOX FIGLA

More info about this panel

Neurogenetic Disorders - panels Panel

Germany.

By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2

More info about this panel

Mitochondrial Diseases Panel

Germany.

By MGZ Medical Genetics Center Mitochondrial Diseases that also includes the following genes: BCS1L SCO1 SCO2 SDHA SDHB SDHC SDHD SLC19A2 SLC22A5 SLC25A12

More info about this panel

Nuclear encoded Mitochondriopathies Panel Panel

Germany.

By CeGaT GmbH Nuclear encoded Mitochondriopathies Panel that also includes the following genes: RMRP BCS1L MRPL3 SACS SCO1 SCO2 SDHA SDHB SDHC SDHD

More info about this panel

Perrault syndrome Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Perrault syndrome that also includes the following genes: LARS2 CLPP HARS2 HSD17B4

More info about this panel

Hearing Loss: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hearing Loss: Sequencing Panel that also includes the following genes: RPS6KA3 SALL1 SIX1 SIX5 SMPX SOX10 BTD TCOF1 TECTA TIMM8A

More info about this panel

Comprehensive Hearing Loss and Deafness Panel Panel

Finland.

By Blueprint Genetics Comprehensive Hearing Loss and Deafness Panel that also includes the following genes: BCS1L RPS6KA3 SALL1 SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SMPX SOX10

More info about this panel

Ataxia Panel Panel

Finland.

By Blueprint Genetics Ataxia Panel that also includes the following genes: SACS SLC1A3 SLC20A2 SLC2A1 SLC9A6 SPG7 SPTBN2 STUB1 TWNK ACO2

More info about this panel

Syndromic Hearing Loss Panel Panel

Finland.

By Blueprint Genetics Syndromic Hearing Loss Panel that also includes the following genes: BCS1L SALL1 SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SOX10 BTD TWNK

More info about this panel

PERRAULT SYNDROME Panel

Spain.

By Laboratorio de Genetica Clinica SL PERRAULT SYNDROME that also includes the following genes: TWNK LARS2 CLPP ERAL1 HARS2 HSD17B4

More info about this panel

Perrault Syndrome Type 3 , Sequencing CLPP Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the CLPP gene.

More info about this panel

Perrault Syndrome , Panel Massive Sequencing (NGS) 5 Genes Panel

Spain.

By Reference Laboratory Genetics Perrault Syndrome , Panel Massive Sequencing (NGS) 5 Genes that also includes the following genes: TWNK LARS2 CLPP HARS2 HSD17B4

More info about this panel

Perrault Syndrome: gene sequencing panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Perrault Syndrome: gene sequencing panel that also includes the following genes: LARS2 CLPP HARS2 HSD17B4

More info about this panel


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