Neuropathy, Hereditary Sensory, Type If; Hsn1f

Description

Hereditary sensory neuropathy type IF is an autosomal dominant sensory neuropathy affecting the lower limbs. Distal sensory impairment becomes apparent during the second or third decade of life, resulting in painless ulceration of the feet with poor healing, which can progress to osteomyelitis, bone destruction, and amputation. There is no autonomic involvement, spasticity, or cognitive impairment (summary by Kornak et al., 2014).For a discussion of genetic heterogeneity of HSN, see HSAN1A (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Neuropathy, Hereditary Sensory, Type If; Hsn1f

  • Pain
  • Spasticity
  • Cognitive impairment
  • Peripheral neuropathy
  • Skeletal muscle atrophy
  • Pes cavus
  • Hyperkeratosis
  • Peripheral axonal neuropathy
  • Distal sensory impairment
  • Sensory neuropathy

And another 7 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

Neuropathy, Hereditary Sensory, Type If; Hsn1f Is also known as hsn if.

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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Neuropathy, Hereditary Sensory, Type If; Hsn1f Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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
2 %
Genes
100 %
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 %
Neuropathy.

By MGZ Medical Genetics Center (Germany).

SACS, SCN10A, SCN11A, SCN9A, SH3BP4, SLC12A6, SOD1, SPG11, ATL1, SPAST, SPTLC1, SPTLC2, SQSTM1, SURF1, TARDBP, TFG, TNNT2, TTR, UBQLN2, VAPB , (...)

View the complete list with 101 more genes
Specificity
1 %
Genes
100 %
Charcot-Marie-Tooth and Sensory Neuropathies Panel.

By CeGaT GmbH (Germany).

SBF1, SCN10A, SCN11A, SCN9A, DST, SLC12A6, SOX10, ATL1, SPTLC1, SPTLC2, SURF1, TWNK, TFG, TTR, YARS, PRX, ARHGEF10, WNK1, BSCL2, ABHD12 , (...)

View the complete list with 64 more genes
Specificity
2 %
Genes
100 %
Invitae Comprehensive Neuropathies Panel.

By Invitae (United States).

SCN11A, SCN9A, DST, SPG11, ATL1, SPTLC1, SPTLC2, TFG, TTR, UBA1, VAPB, YARS, PRX, SLC5A7, WNK1, CHCHD10, BSCL2, GDAP1, TRIM2, SLC52A3 , (...)

View the complete list with 50 more genes
Specificity
2 %
Genes
100 %
Invitae Hereditary Sensory and Autonomic Neuropathy Panel.

By Invitae (United States).

SCN11A, SCN9A, DST, ATL1, SPTLC1, SPTLC2, WNK1, ATL3, RETREG1, DNMT1, ELP1, NGF, NTRK1, KIF1A, RAB7A
Specificity
7 %
Genes
100 %
ATL3.

By Fulgent Genetics Fulgent Genetics (United States).

ATL3
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 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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