Neuropathy, Hereditary Sensory And Autonomic, Type Vii; Hsan7

Description

A very rare disorder caused by mutation in the SCN11A gene. Affected individuals are unable to experience pain since birth resulting in self-inflicted injuries.

Clinical Features

Top most frequent phenotypes and symptoms related to Neuropathy, Hereditary Sensory And Autonomic, Type Vii; Hsan7

  • Generalized hypotonia
  • Failure to thrive
  • Motor delay
  • Muscle weakness
  • Peripheral neuropathy
  • Pain
  • Diarrhea
  • Dystonia
  • Constipation
  • Hyperhidrosis
And another 6 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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Neuropathy, Hereditary Sensory And Autonomic, Type Vii; Hsan7 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
SCN11A. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

SCN11A
Specificity
100 %
Genes
100 %
Hereditary peripheral neuropathies, including Charcot-Marie-Tooth disease (NGS panel for 74 genes).

By CGC Genetics in Portugal.

TTR, ABHD12, TWNK, C12orf65, GARS, KIF1B, MFN2, KARS, SPTLC2, REEP1, TYMP, AIFM1, PHYH, HK1, SEPT9, ELP1, SLC12A6, NDRG1, SBF2, PRX , (...)

View the complete list with 54 more genes
Specificity
2 %
Genes
100 %
Familial episodic pain syndrome, 3 (sequencing analysis of SCN11A gene).

By CGC Genetics in Portugal.

SCN11A
Specificity
100 %
Genes
100 %
Familial episodic pain syndrome, 3 (sequencing analysis of SCN11A gene).

By CGC Genetics in Portugal.

SCN11A
Specificity
100 %
Genes
100 %
Familial Episodic Pain Type 3 (FEPS3) Syndrome, Hereditary Sensory and Autonomic Neuropathy Type VII (HSAN7), and other Pain-Related Disorders via the SCN11A Gene.

By PreventionGenetics PreventionGenetics in United States.

SCN11A
Specificity
100 %
Genes
100 %
Episodic Pain Syndrome Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

SCN9A, SCN10A, SCN11A
Specificity
34 %
Genes
100 %
Hereditary Sensory and Autonomic Neuropathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

POLG, SPTLC2, FLVCR1, ELP1, RAB7A, NTRK1, WNK1, SPTLC1, ATL1, KIF1A, SCN9A, DNMT1, CCT5, DST, RETREG1, NGF, SCN11A, ATL3, CLTCL1, PRDM12
Specificity
5 %
Genes
100 %
SCN11A.

By MGZ Medical Genetics Center in Germany.

SCN11A
Specificity
100 %
Genes
100 %
Neuropathy.

By MGZ Medical Genetics Center in Germany.

TTR, ABHD12, ATP7A, C12orf65, GAA, FBLN5, OPTN, AMACR, POLG, GARS, MFN2, HADHA, VCP, HARS, KARS, SPTLC2, REEP1, HADHB, TYMP, SQSTM1 , (...)

View the complete list with 102 more genes
Specificity
1 %
Genes
100 %
Episodic pain syndrome type 3, familial.

By Centogene AG - the Rare Disease Company in Germany.

SCN11A
Specificity
100 %
Genes
100 %
Neuropathic Pain Syndromes Panel.

By CeGaT GmbH in Germany.

NTRK1, SCN9A, SCN10A, SCN11A, TRPA1
Specificity
20 %
Genes
100 %
Charcot-Marie-Tooth and Sensory Neuropathies Panel.

By CeGaT GmbH in Germany.

TTR, ABHD12, TWNK, C12orf65, FBLN5, OPA1, POLG, GARS, KIF1B, MFN2, HADHA, HARS, KARS, SPTLC2, REEP1, HADHB, TYMP, AIFM1, SURF1, HK1 , (...)

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

By Invitae in United States.

TTR, ATP7A, GARS, MFN2, HARS, SPTLC2, REEP1, AIFM1, ELP1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22 , (...)

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

By Invitae in United States.

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

By Fulgent Genetics Fulgent Genetics in United States.

SCN11A
Specificity
100 %
Genes
100 %
Charcot-Marie-Tooth Neuropathy Panel.

By Blueprint Genetics in Finland.

TTR, ATP7A, C12orf65, FBLN5, AMACR, GNE, POLG, GARS, KIF1B, MFN2, VCP, HARS, KARS, SPTLC2, REEP1, HADHB, TYMP, AIFM1, SURF1, HK1 , (...)

View the complete list with 78 more genes
Specificity
2 %
Genes
100 %
PAROXYSMAL EXTREME PAIN DISORDER.

By Laboratorio de Genetica Clinica SL in Spain.

SCN9A, SCN10A, SCN11A
Specificity
34 %
Genes
100 %
Episodic pain syndrome, familial.

By Labor Dr. Wisplinghoff in Germany.

SCN10A, SCN11A
Specificity
50 %
Genes
100 %
CEN4GEN Prostate cancer: Extended gene sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

APC, PTEN, TP53, RB1, ZFHX3, AR, CDKN2A, KMT2D, MED12, AKAP9, CDKN1B, PIK3CA, TBX20, SCN11A, CDK12, MYC, GLI1, KLF6, NIPA2, NKX3-1 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %

Alternate names

Neuropathy, Hereditary Sensory And Autonomic, Type Vii; Hsan7 Is also known as hsan vii, insensitivity to pain, congenital, with gastrointestinal dysfunction and hyperhidrosis;cip with hyperhidrosis and gastrointestinal dysfunction; congenital insensitivity to pain with hyperhidrosis and gastrointestinal dysfunction; hsan with hyperhidrosis and gastrointestinal dysfunction; hsan7; hereditary sensory and autonomic neuropathy type vii; hereditary sensory and autonomic neuropathy with hyperhidrosis and gastrointestinal dysfunction.



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