Neuropathy, Hereditary Sensory And Autonomic, Type Iib; Hsan2b

Description

Hereditary sensory and autonomic neuropathy type IIB is an autosomal recessive neurologic disorder characterized by early childhood onset of distal sensory impairment usually resulting in ulceration and associated with variable autonomic features, such as hyperhidrosis and urinary incontinence. Some patients may show impaired gait (summary by Ilgaz Aydinlar et al., 2014).HSAN2A (OMIM ) is caused by mutation in the HSN2 isoform of the WNK1 gene (WNK1/HSN2; see {605232}). For a discussion of genetic heterogeneity of HSAN, see HSAN1 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Neuropathy, Hereditary Sensory And Autonomic, Type Iib; Hsan2b

  • Spasticity
  • Peripheral neuropathy
  • Gait disturbance
  • Areflexia
  • Hyporeflexia
  • Hyperhidrosis
  • Limb muscle weakness
  • Lower limb muscle weakness
  • Peripheral axonal neuropathy
  • Vertigo

And another 11 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.

Researches and researchers

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Neuropathy, Hereditary Sensory And Autonomic, Type Iib; Hsan2b Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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 %
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 %
Comprehensive Neuropathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SBF1, SCN9A, SLC12A6, ATL1, SPTLC1, SPTLC2, TFG, TTR, YARS, PRX, SLC5A7, BSCL2, GDAP1, TRIM2, CCT5, LITAF, FIG4, MFN2, BICD2, TRPV4 , (...)

View the complete list with 49 more genes
Specificity
2 %
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 %
Neurogenetic Disorders - panels.

By MGZ Medical Genetics Center (Germany).

BCS1L, RTN2, RYR1, SACS, SCN1A, SCN1B, SCN2A, SCN8A, SCO1, SCO2, AIMP1, SDHA, SDHB, SDHC, SDHD, SGCE, SLC16A2, SLC17A5, SLC19A2, SLC1A3 , (...)

View the complete list with 572 more genes
Specificity
1 %
Genes
100 %
FAM134B.

By MGZ Medical Genetics Center (Germany).

RETREG1
Specificity
100 %
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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