Hereditary Neuropathy With Liability To Pressure Palsies

Description

Hereditary neuropathy with liability to pressure palsies (HNPP) is an inherited peripheral nerve disorder characterized by recurrent mononeuropathy usually triggered by minor physical activities.

Clinical Features

Top most frequent phenotypes and symptoms related to Hereditary Neuropathy With Liability To Pressure Palsies

  • Hearing impairment
  • Scoliosis
  • Muscle weakness
  • Pain
  • Peripheral neuropathy
  • Skeletal muscle atrophy
  • Fatigue
  • Respiratory insufficiency
  • Areflexia
  • Hyporeflexia

And another 35 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 HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES have a estimated prevalence of 3.5 per 100k worldwide.
No data available about the known clinical features onset.

Alternative names

Hereditary Neuropathy With Liability To Pressure Palsies Is also known as hnpp, potato-grubbing palsy, polyneuropathy, familial recurrent, current pressure-sensitive neuropathy, heterozygous microdeletion 17p11.2p12, tulip-bulb digger's palsy, tomaculous neuropathy.

Researches and researchers

Doctors, researchs, and experts related to Hereditary Neuropathy With Liability To Pressure Palsies extracted from public data.

Hereditary Neuropathy With Liability To Pressure Palsies Experts map



Current Researchs and researchers

  • BUDAPEST — Pr Maria Judit MOLNAR

    Coordinator of expert centre - Clinical expert - Clinical geneticist - Responsible for diagnostic tests - Principal investigator of clinical trial - Investigator of research project - Coordinator of expert centre network - Director of laboratory - Directo

    • Institution/s:
      — Institute of Genomic Medicine and Rare Disorders, Semmelweis University
    • Research area/topic::

      Genetic epidemiology analysis in hereditary neuropathies



Mendelian

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Hereditary Neuropathy With Liability To Pressure Palsies Recommended genes panels

Panel Name, Specifity and genes Tested/covered
CMT Advanced Evaluation - Dominant.

By Athena Diagnostics Inc (United States).

YARS, LITAF, MFN2, TRPV4, DNM2, HSPB8, EGR2, GARS, HSPB1, MPZ, NEFL, PMP22, RAB7A
Specificity
8 %
Genes
50 %
CMT Advanced Evaluation - Dominant, Demyelinating.

By Athena Diagnostics Inc (United States).

YARS, LITAF, DNM2, EGR2, MPZ, PMP22
Specificity
17 %
Genes
50 %
CMT Advanced Evaluation - Comprehensive.

By Athena Diagnostics Inc (United States).

YARS, PRX, GDAP1, LITAF, FIG4, MFN2, TRPV4, FGD4, SBF2, SH3TC2, DNM2, HSPB8, EGR2, GARS, GJB1, HSPB1, LMNA, MPZ, MTMR2, NDRG1 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
50 %
CMT Advanced Evaluation - Demyelinating.

By Athena Diagnostics Inc (United States).

YARS, PRX, GDAP1, LITAF, FIG4, FGD4, SBF2, SH3TC2, DNM2, EGR2, GJB1, MPZ, MTMR2, NDRG1, PMP22
Specificity
7 %
Genes
50 %
Complete HNPP Evaluation.

By Athena Diagnostics Inc (United States).

PMP22
Specificity
100 %
Genes
50 %
PMP22 Duplication/Deletion DNA Test.

By Athena Diagnostics Inc (United States).

PMP22
Specificity
100 %
Genes
50 %
PMP22 DNA Sequencing Test.

By Athena Diagnostics Inc (United States).

PMP22
Specificity
100 %
Genes
50 %
Entrapment Neuropathy Evaluation.

By Athena Diagnostics Inc (United States).

TTR, PMP22
Specificity
50 %
Genes
50 %

We have 117 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM MESH ORPHANET Genetic Syndrome Finder

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