Hereditary Sensory And Autonomic Neuropathy Type 5

Description

Hereditary sensory and autonomic neuropathy, type 5 (HSAN5) is characterized by loss of pain perception and impaired temperature sensitivity, in the absence of any other major neurological anomalies.

Clinical Features

Top most frequent phenotypes and symptoms related to Hereditary Sensory And Autonomic Neuropathy Type 5

  • Intellectual disability
  • Pain
  • Peripheral neuropathy
  • Abnormality of the dentition
  • Intellectual disability, mild
  • Malar flattening
  • Immunodeficiency
  • Hyperhidrosis
  • Deeply set eye
  • Sensory neuropathy

And another 16 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

Hereditary Sensory And Autonomic Neuropathy Type 5 Is also known as hsan v, insensitivity to pain, congenital, hsan5, congenital insensitivity to pain and thermal analgesia, hereditary sensory and autonomic neuropathy type v.

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.


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Hereditary Sensory And Autonomic Neuropathy Type 5 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Early Onset Hereditary Sensory and Autonomic Neuropathy (HSAN) Evaluation.

By Athena Diagnostics Inc (United States).

WNK1, NTRK1
Specificity
50 %
Genes
50 %
NTRK1 DNA Sequencing Test.

By Athena Diagnostics Inc (United States).

NTRK1
Specificity
100 %
Genes
50 %
Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies, PMP22 Deletion/Duplication with Reflex to Sequencing Panel.

By ARUP Laboratories, Molecular Genetics and Genomics (United States).

SBF1, SCN9A, SLC12A6, SOX10, ATL1, SPTLC1, SPTLC2, TFG, YARS, PRX, SLC5A7, ARHGEF10, WNK1, BSCL2, GDAP1, TRIM2, CCT5, KIF1B, LITAF, FIG4 , (...)

View the complete list with 58 more genes
Specificity
3 %
Genes
100 %
Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies Panel, Sequencing.

By ARUP Laboratories, Molecular Genetics and Genomics (United States).

SBF1, SCN9A, SLC12A6, SOX10, ATL1, SPTLC1, SPTLC2, TFG, YARS, PRX, SLC5A7, ARHGEF10, WNK1, BSCL2, GDAP1, TRIM2, CCT5, KIF1B, LITAF, FIG4 , (...)

View the complete list with 58 more genes
Specificity
3 %
Genes
100 %
NTRK1 Gene Sequencing.

By GeneDx (United States).

NTRK1
Specificity
100 %
Genes
50 %
NTRK1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

NTRK1
Specificity
100 %
Genes
50 %
NTRK1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

NTRK1
Specificity
100 %
Genes
50 %
Hereditary peripheral neuropathies, including Charcot-Marie-Tooth disease (NGS panel for 74 genes).

By CGC Genetics (Portugal).

SBF1, SCN11A, SCN9A, DST, SLC12A6, SOX10, ATL1, SPTLC1, SPTLC2, TWNK, TFG, TTR, YARS, PRX, ARHGEF10, WNK1, BSCL2, ABHD12, GDAP1, TRIM2 , (...)

View the complete list with 54 more genes
Specificity
3 %
Genes
100 %

We have 61 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Symptoms Checker

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