Neuropathy, Hereditary Sensory And Autonomic, Type Iia; Hsan2a

Clinical Features

Top most frequent phenotypes and symptoms related to Neuropathy, Hereditary Sensory And Autonomic, Type Iia; Hsan2a

  • Generalized hypotonia
  • Scoliosis
  • Muscular hypotonia
  • Pain
  • Peripheral neuropathy
  • Diarrhea
  • Recurrent infections
  • Abnormality of metabolism/homeostasis
  • Areflexia
  • Hyporeflexia

And another 46 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 Iia; Hsan2a Is also known as acroosteolysis, neurogenic, neuropathy, hereditary sensory radicular, autosomal recessive, acroosteolysis, giaccai type, neuropathy, progressive sensory, of children, neuropathy, hereditary sensory, type iia, hsan iia, hsn iia, morvan disease, neuropathy, congeni.

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 Iia; Hsan2a 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
100 %
WNK1 DNA Sequencing Test.

By Athena Diagnostics Inc (United States).

WNK1
Specificity
100 %
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 %
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 %
Pseudohypoaldosteronism (NGS panel of 9 genes).

By CGC Genetics (Portugal).

SCNN1A, SCNN1B, SCNN1G, WNK1, WNK4, CUL3, CYP11B2, KLHL3, NR3C2
Specificity
12 %
Genes
100 %
Pseudohypoaldosteronism (NGS panel of 9 genes).

By CGC Genetics (Portugal).

SCNN1A, SCNN1B, SCNN1G, WNK1, WNK4, CUL3, CYP11B2, KLHL3, NR3C2
Specificity
12 %
Genes
100 %
Pseudohypoaldosteronism Type IIC-WNK1.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders (Germany).

WNK1
Specificity
100 %
Genes
100 %

You can get up to 46 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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