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.
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
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
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
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
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
Search interest in SCN11A
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 Spain.
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 Portugal.
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 Portugal.
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 Portugal.
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 United States.
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 United States.
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 United States.
SCN11A Panel
Germany.
By MGZ Medical Genetics Center
This panel specifically test the SCN11A gene.
More info about this panel Germany.
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 Germany.
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 Germany.
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 Germany.
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 Germany.
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 United States.
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 United States.
SCN11A Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SCN11A gene.
More info about this panel United States.
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 Finland.
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 Spain.
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 Germany.
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 Canada.
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