SCN11A gene related symptoms and diseases

All the information presented here about the SCN11A gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to SCN11A gene

Symptoms // Phenotype % Cases
Abnormal autonomic nervous system physiology Common - Between 50% and 80% cases
Pain Common - Between 50% and 80% cases
Peripheral neuropathy Common - Between 50% and 80% cases
Hyperhidrosis Common - Between 50% and 80% cases
Diarrhea Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with SCN11A gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Constipation
  • Palpitations
  • Keratoconjunctivitis sicca
  • Paresthesia
  • Flushing
  • Xerostomia
  • Pruritus
  • Motor delay

And 34 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to SCN11A gene

Here you will find a list of rare diseases related to the SCN11A. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


CHANNELOPATHY-ASSOCIATED CONGENITAL INSENSITIVITY TO PAIN


Alternate names

CHANNELOPATHY-ASSOCIATED CONGENITAL INSENSITIVITY TO PAIN Is also known as channelopathy-associated cip


More info about CHANNELOPATHY-ASSOCIATED CONGENITAL INSENSITIVITY TO PAIN

SOURCES: ORPHANET

HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 7


Alternate names

HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 7 Is also known as hereditary sensory and autonomic neuropathy with hyperhidrosis and gastrointestinal dysfunction, cip with hyperhidrosis and gastrointestinal dysfunction, hsan with hyperhidrosis and gastrointestinal dysfunction, congenital insensitivity to pain with hyperhid

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.

Most common symptoms of HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 7

  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness
  • Pain
  • Motor delay


More info about HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 7

SOURCES: ORPHANET OMIM

PRIMARY ERYTHERMALGIA


Alternate names

PRIMARY ERYTHERMALGIA Is also known as erythromelalgia, primary, erythromelalgia, familial

Description

Primary erythermalgia is characterized by intermittent attacks of red, warm, painful burning extremities. It spontaneously arises during early childhood and adolescence in the absence of any detectable underlying disorder.

Most common symptoms of PRIMARY ERYTHERMALGIA

  • Pain
  • Peripheral neuropathy
  • Diarrhea
  • Constipation
  • Hyperhidrosis


More info about PRIMARY ERYTHERMALGIA

SOURCES: ORPHANET OMIM

PAROXYSMAL EXTREME PAIN DISORDER


Alternate names

PAROXYSMAL EXTREME PAIN DISORDER Is also known as rectal pain, familial, pexpd, pepd, pain, submandibular, ocular, and rectal, with flushing, familial rectal pain

Description

Paroxysmal extreme pain disorder is a rare disorder of abnormal pain sensation.

Most common symptoms of PAROXYSMAL EXTREME PAIN DISORDER

  • Seizures
  • Pain
  • Motor delay
  • Peripheral neuropathy
  • Constipation


More info about PAROXYSMAL EXTREME PAIN DISORDER

SOURCES: ORPHANET MESH OMIM

FAMILIAL EPISODIC PAIN SYNDROME WITH PREDOMINANTLY LOWER LIMB INVOLVEMENT


Description

Familial episodic pain syndrome with predominantly lower limb involvement is a subtype of familial episodic pain syndrome characterized by intense, episodic and/or cyclic pain mainly localized in the distal lower limbs (occasionally affecting upper limbs as well) which is triggered/exacerbated by fatigue, cold exposure and/or weather changes and alleviated with anti-inflammatory medication, that has a tendancy to diminish in frequency with age. Episodes usually occur late in the day, last 15-30 min and associate sweating and a cold sensation of affected area.

Most common symptoms of FAMILIAL EPISODIC PAIN SYNDROME WITH PREDOMINANTLY LOWER LIMB INVOLVEMENT

  • Neoplasm
  • Pain
  • Peripheral neuropathy
  • Fatigue
  • Diarrhea


More info about FAMILIAL EPISODIC PAIN SYNDROME WITH PREDOMINANTLY LOWER LIMB INVOLVEMENT

SOURCES: ORPHANET OMIM

SODIUM CHANNELOPATHY-RELATED SMALL FIBER NEUROPATHY


Description

Sodium channelopathy-related small fiber neuropathy is a rare, genetic, peripheral neuropathy disorder due to gain-of-function mutations in voltage-gated sodium channels present in the small peripheral nerve fibers characterized by neuropathic pain of varying intensity (often beginning in the distal extermities and with a burning quality) associated with autonomic dysfunction (e.g. orthostatic dizziness, palpitations, dry eyes and mouth), abnormal quantitative sensory testing, and reduction in intraepidermal nerve fiber density. Large fiber functions (i.e. normal strength, tendon reflexes, and vibration sense) and nerve conduction studies are typically normal.


More info about SODIUM CHANNELOPATHY-RELATED SMALL FIBER NEUROPATHY

SOURCES: ORPHANET


Potential gene panels for SCN11A gene

SCN11A. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the SCN11A gene.

More info about this panel

Hereditary peripheral neuropathies, including Charcot-Marie-Tooth disease (NGS panel for 74 genes) Panel

Portugal.

By CGC Genetics Hereditary peripheral neuropathies, including Charcot-Marie-Tooth disease (NGS panel for 74 genes) that also includes the following genes: SBF1 SCN11A SCN9A DST SLC12A6 SOX10 ATL1 SPTLC1 SPTLC2 TWNK

More info about this panel

Familial episodic pain syndrome, 3 (sequencing analysis of SCN11A gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the SCN11A gene.

More info about this panel

Familial episodic pain syndrome, 3 (sequencing analysis of SCN11A gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the SCN11A gene.

More info about this panel

Familial Episodic Pain Type 3 (FEPS3) Syndrome, Hereditary Sensory and Autonomic Neuropathy Type VII (HSAN7), and other Pain-Related Disorders via SCN11A Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the SCN11A gene.

More info about this panel

Episodic Pain Syndrome Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Episodic Pain Syndrome Sequencing Panel with CNV Detection that also includes the following genes: SCN10A SCN11A SCN9A

More info about this panel

Hereditary Sensory and Autonomic Neuropathy Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Hereditary Sensory and Autonomic Neuropathy Sequencing Panel with CNV Detection that also includes the following genes: SCN11A SCN9A DST ATL1 SPTLC1 SPTLC2 PRDM12 WNK1 CCT5 CLTCL1

More info about this panel

SCN11A Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the SCN11A gene.

More info about this panel

Neuropathy Panel

Germany.

By MGZ Medical Genetics Center Neuropathy that also includes the following genes: SACS SCN10A SCN11A SCN9A SH3BP4 SLC12A6 SOD1 SPG11 ATL1 SPAST

More info about this panel

Episodic pain syndrome type 3, familial Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the SCN11A gene.

More info about this panel

Neuropathic Pain Syndromes Panel Panel

Germany.

By CeGaT GmbH Neuropathic Pain Syndromes Panel that also includes the following genes: SCN10A SCN11A SCN9A TRPA1 NTRK1

More info about this panel

Charcot-Marie-Tooth and Sensory Neuropathies Panel Panel

Germany.

By CeGaT GmbH Charcot-Marie-Tooth and Sensory Neuropathies Panel that also includes the following genes: SBF1 SCN10A SCN11A SCN9A DST SLC12A6 SOX10 ATL1 SPTLC1 SPTLC2

More info about this panel

Invitae Comprehensive Neuropathies Panel Panel

United States.

By Invitae Invitae Comprehensive Neuropathies Panel that also includes the following genes: SCN11A SCN9A DST SPG11 ATL1 SPTLC1 SPTLC2 TFG TTR UBA1

More info about this panel

Invitae Hereditary Sensory and Autonomic Neuropathy Panel Panel

United States.

By Invitae Invitae Hereditary Sensory and Autonomic Neuropathy Panel that also includes the following genes: SCN11A SCN9A DST ATL1 SPTLC1 SPTLC2 WNK1 ATL3 RETREG1 DNMT1

More info about this panel

SCN11A Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the SCN11A gene.

More info about this panel

Charcot-Marie-Tooth Neuropathy Panel Panel

Finland.

By Blueprint Genetics Charcot-Marie-Tooth Neuropathy Panel that also includes the following genes: SACS SBF1 SCN11A SCN9A DST SLC12A6 SPG11 ATL1 SPTLC1 SPTLC2

More info about this panel

PAROXYSMAL EXTREME PAIN DISORDER Panel

Spain.

By Laboratorio de Genetica Clinica SL PAROXYSMAL EXTREME PAIN DISORDER that also includes the following genes: SCN10A SCN11A SCN9A

More info about this panel

Episodic pain syndrome, familial Panel

Germany.

By Labor Dr. Wisplinghoff Episodic pain syndrome, familial that also includes the following genes: SCN10A SCN11A

More info about this panel

CEN4GEN Prostate cancer: Extended gene sequencing Panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN Prostate cancer: Extended gene sequencing Panel that also includes the following genes: SCN11A SPOP TBX20 MED12 TP53 NIPA2 PDZRN3 CDKN1B CDKN2A KLF6

More info about this panel


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