Polyneuropathy-hearing Loss-ataxia-retinitis Pigmentosa-cataract Syndrome

Description

Fiskerstrand type peripheral neuropathy is a slowly-progressive Refsum-like disorder associating signs of peripheral neuropathy with late-onset hearing loss, cataract and pigmentary retinopathy that become evident during the third decade of life.

Clinical Features

Top most frequent phenotypes and symptoms related to Polyneuropathy-hearing Loss-ataxia-retinitis Pigmentosa-cataract Syndrome

  • Seizures
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment
  • Cataract
  • Spasticity
  • Flexion contracture
  • Peripheral neuropathy
  • Hyperreflexia

And another 29 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

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

Polyneuropathy-hearing Loss-ataxia-retinitis Pigmentosa-cataract Syndrome Is also known as peripheral neuropathy, fiskerstrand type, pharc syndrome.

Researches and researchers

Doctors, researchs, and experts related to Polyneuropathy-hearing Loss-ataxia-retinitis Pigmentosa-cataract Syndrome extracted from public data.

Polyneuropathy-hearing Loss-ataxia-retinitis Pigmentosa-cataract Syndrome Experts map



Current Researchs and researchers

  • BORDEAUX — Pr Patrick BABIN

    Investigator of research project

    • Institution/s:
      — Université de Bordeaux, CHU de Bordeaux-GH Pellegrin
      — Université Bordeaux 1
    • Research area/topic::

      Zebrafish models for human motor neuron diseases and organophosphorus-induced delayed neuropathy


  • TALENCE — Pr Patrick BABIN

    Investigator of research project

    • Institution/s:
      — Université de Bordeaux, CHU de Bordeaux-GH Pellegrin
      — Université Bordeaux 1
    • Research area/topic::

      Zebrafish models for human motor neuron diseases and organophosphorus-induced delayed neuropathy


Polyneuropathy-hearing Loss-ataxia-retinitis Pigmentosa-cataract Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
ABHD12 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

ABHD12
Specificity
100 %
Genes
100 %
ABHD12 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

ABHD12
Specificity
100 %
Genes
100 %
ABHD12 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

ABHD12
Specificity
100 %
Genes
100 %
ABHD12 Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

ABHD12
Specificity
100 %
Genes
100 %
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
100 %
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 %
Retinitis Pigmentosa Panel.

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

RHO, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, SAG, SEMA4A, SPP2, TULP1, USH2A, CLRN1, BEST1, ARL6, RPGRIP1, CA4, C1QTNF5, CDHR1 , (...)

View the complete list with 72 more genes
Specificity
2 %
Genes
100 %
Hearing Loss Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

RPS6KA3, SALL1, SEMA3E, SIX1, SIX5, SLC19A2, SNAI2, SMPX, SOX10, BTD, TCOF1, TECTA, TIMM8A, TJP2, TMPRSS3, USH1C, USH2A, CLRN1, WFS1, ESPN , (...)

View the complete list with 100 more genes
Specificity
1 %
Genes
100 %

You can get up to 43 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

MESH OMIM ORPHANET Rare Disease Search Engine

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