Hereditary Sensory And Autonomic Neuropathy Type 8

Description

Hereditary sensory and autonomic neuropathy type VIII is an autosomal recessive neurologic disorder characterized by congenital insensitivity to pain resulting in ulceration to the fingers, tongue, lips, and other distal appendages. Affected individuals may also have decreased sweating and tear production (summary by Chen et al., 2015).For a discussion of genetic heterogeneity of hereditary sensory and autonomic neuropathy, see HSAN1A (OMIM ).

Clinical Features

Phenotypes and symptoms related to Hereditary Sensory And Autonomic Neuropathy Type 8

  • Pain
  • Peripheral neuropathy
  • Recurrent infections
  • Hyperhidrosis
  • Scarring
  • Hypohidrosis
  • Chronic pain
  • Corneal scarring
  • Corneal ulceration

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 8 Is also known as hsan8, hereditary sensory and autonomic neuropathy type viii, hsan viii.

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.

Hereditary Sensory And Autonomic Neuropathy Type 8 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hereditary Sensory and Autonomic Neuropathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SCN11A, SCN9A, DST, ATL1, SPTLC1, SPTLC2, PRDM12, WNK1, CCT5, CLTCL1, ATL3, FLVCR1, RETREG1, DNMT1, ELP1, NGF, NTRK1, KIF1A, POLG, RAB7A
Specificity
5 %
Genes
100 %
Hereditary Sensory and Autonomic Neuropathy Type VIII via PRDM12 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

PRDM12
Specificity
100 %
Genes
100 %
HSAN8.

By Centogene AG - the Rare Disease Company (Germany).

PRDM12
Specificity
100 %
Genes
100 %
Charcot-Marie-Tooth Neuropathy Panel.

By Blueprint Genetics (Finland).

SACS, SBF1, SCN11A, SCN9A, DST, SLC12A6, SPG11, ATL1, SPTLC1, SPTLC2, SURF1, TFG, MYOT, TTR, VCP, YARS, PRX, PRDM12, ARHGEF10, WNK1 , (...)

View the complete list with 78 more genes
Specificity
2 %
Genes
100 %
Tempus xO assay.

By Tempus Labs, Inc. (United States).

BCL6, RHEB, RIPK1, RIPK2, RIPK3, RIT1, BCL7A, BCL9, BCR, ROBO2, ROCK1, ROCK2, ROR1, ROR2, ROS1, RPA1, BDNF, RPL5, RPN1, RPS6KB1 , (...)

View the complete list with 1627 more genes
Specificity
1 %
Genes
100 %

You can get up to -3 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Genetic Syndrome Finder

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