Neuropathy, Hereditary Sensory And Autonomic, Type Ic; Hsan1c

Clinical Features

Top most frequent phenotypes and symptoms related to Neuropathy, Hereditary Sensory And Autonomic, Type Ic; Hsan1c

  • Seizures
  • Scoliosis
  • Muscle weakness
  • Peripheral neuropathy
  • Hyperreflexia
  • Gait disturbance
  • Distal muscle weakness
  • Abnormality of the foot
  • Peripheral axonal neuropathy
  • Distal sensory impairment

And another 10 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 And Autonomic, Type Ic; Hsan1c Is also known as neuropathy, hereditary sensory, type ic, hsn1c, hsn ic, hsan ic.

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.

Neuropathy, Hereditary Sensory And Autonomic, Type Ic; Hsan1c Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMetĀ®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 %
SPTLC2 DNA Sequencing Test.

By Athena Diagnostics Inc (United States).

SPTLC2
Specificity
100 %
Genes
100 %
Late Onset Hereditary Sensory and Autonomic Neuropathy (HSAN) Evaluation.

By Athena Diagnostics Inc (United States).

SPTLC1, SPTLC2
Specificity
50 %
Genes
100 %
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
2 %
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
2 %
Genes
100 %
SPTLC2. Complete sequencing.

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

SPTLC2
Specificity
100 %
Genes
100 %
Hereditary Sensory and Autonomic Neuropathy Type IC (sequence analysis of SPTLC2 gene).

By CGC Genetics (Portugal).

SPTLC2
Specificity
100 %
Genes
100 %
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 %

You can get up to 19 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

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