SCN9A gene related symptoms and diseases

All the information presented here about the SCN9A gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.

Table of contents:

Main symptoms and clinical features
Other symptoms and clinical features
Related Diseases
Current trends
Suitable testing panels

Top 5 symptoms and clinical features associated to SCN9A gene

Symptoms // Phenotype	% Cases
Hyperhidrosis	Uncommon - Between 30% and 50% cases
Seizures	Uncommon - Between 30% and 50% cases
Peripheral neuropathy	Uncommon - Between 30% and 50% cases
Absence seizures	Rare - less than 30% cases
Abnormal autonomic nervous system physiology	Rare - less than 30% cases

Other less frequent symptoms and clinical features

Patients with SCN9A gene alterations may also develop some of the following symptoms and phenotypes:

Rarely - Less than 30% cases
Febrile seizures
Focal-onset seizure
Generalized tonic-clonic seizures
Pain
Fever
Atonic seizures
Erythema
Painless fractures due to injury

And 110 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to SCN9A gene

Here you will find a list of rare diseases related to the SCN9A. 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

INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL RECESSIVE; CIP

Alternate names

INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL RECESSIVE; CIP Is also known as congenital analgesia, autosomal recessive, insensitivity to pain, channelopathy-associated, asymbolia for pain

Description

Congenital indifference to pain is a rare autosomal recessive disorder characterized by the complete absence of pain perception typically associated with noxious stimuli. Affected individuals are aware of a stimulus, but have lost the ability to perceive pain. Most patients are hyposmic or anosmic. Other sensory modalities are unaffected, and there is an absence of overt autonomic symptoms. Sural nerve biopsy and nerve conduction velocity studies are normal (summary by Cox et al., 2006; and Goldberg et al., 2012).Hereditary sensory and autonomic neuropathy type IID (HSAN2D) is an autosomal recessive disorder characterized by congenital or childhood-onset distal loss of pain and temperature sensation as well as autonomic dysfunction accompanied by hyposmia, hearing loss, hypogeusia, and sometimes bone dysplasia. The phenotype is highly variable, even within families. Two Japanese families have been reported (summary by Yuan et al., 2013).For a discussion of genetic heterogeneity of HSAN, see HSAN1 (OMIM ).

Most common symptoms of INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL RECESSIVE; CIP

Short stature
Generalized hypotonia
Hearing impairment
Sensorineural hearing impairment
Muscle weakness

More info about INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL RECESSIVE; CIP

SOURCES: OMIM

HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 2

Alternate names

HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 2 Is also known as hsan2, autosomal recessive sensory radicular neuropathy, hereditary sensory and autonomic neuropathy type ii, neurogenic acroosteolysis

Description

Hereditary sensory and autonomic neuropathy, type 2 (HSAN2) is an inherited disorder characterized by profound and universal sensory loss involving large and small fiber nerves, and marked hypotonia.

Most common symptoms of HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 2

Skeletal muscle atrophy
Hyperhidrosis
Hyperlordosis
Tapered finger
Abnormality of epiphysis morphology

More info about HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 2

SOURCES: ORPHANET

MORVAN SYNDROME

Alternate names

MORVAN SYNDROME Is also known as limbic encephalitis-neuromyotonia-hyperhidrosis-polyneuropathy syndrome, morvan's fibrillary chorea

Description

Morvan syndrome is a rare, life-threatening, acquired neurologic disease characterized by neuromyotonia, dysautonomia and encephalopathy with severe insomnia. Signs involving central (e.g. hallucinations, confusion, amnesia, myoclonus), autonomic (e.g. variations in blood pressure, hyperhidrosis) and peripheral (e.g. painful cramps, myokymia) hyperactivity, as well as systemic manifestations (such as weight loss, pruritus, fever), are reported. Thymoma is present in some cases.

Most common symptoms of MORVAN SYNDROME

Decreased nerve conduction velocity
Anhidrosis
Painless fractures due to injury

More info about MORVAN SYNDROME

SOURCES: ORPHANET

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

DRAVET SYNDROME

Alternate names

DRAVET SYNDROME Is also known as smei, severe myoclonus epilepsy of infancy, ds, severe myoclonic epilepsy of infancy, dravet syndrome

Description

Dravet syndrome (DS) is a genetic epilepsy of childhood characterized by a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment.

Most common symptoms of DRAVET SYNDROME

Intellectual disability
Seizures
Global developmental delay
Microcephaly
Ataxia

More info about DRAVET SYNDROME

SOURCES: OMIM ORPHANET

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

GENERALIZED EPILEPSY WITH FEBRILE SEIZURES-PLUS

Alternate names

GENERALIZED EPILEPSY WITH FEBRILE SEIZURES-PLUS Is also known as gefs+1, gefs+, gefs+, type 1

Description

Generalized epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome in which family members display a seizure disorder from the GEFS+ spectrum which ranges from simple febrile seizures (FS) to the more severe phenotype of myoclonic-astatic epilepsy (MAE) or Dravet syndrome (DS) (see these terms).

Most common symptoms of GENERALIZED EPILEPSY WITH FEBRILE SEIZURES-PLUS

Intellectual disability
Seizures
Fever
Generalized tonic-clonic seizures
Generalized myoclonic seizures

More info about GENERALIZED EPILEPSY WITH FEBRILE SEIZURES-PLUS

SOURCES: OMIM ORPHANET MESH

GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 7; GEFSP7

Alternate names

GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 7; GEFSP7 Is also known as gefs+7, gefs+, type 7

Description

Mutations in the SCN9A gene cause a spectrum of seizure disorders, ranging from early-onset isolated febrile seizures to generalized epilepsy with febrile seizures plus, type 7, which represents a more severe phenotype. Patients with isolated febrile seizures usually have onset between ages 5 months to 4 years and show spontaneous remission by age 6 years (summary by Singh et al., 2009), whereas patients with GEFS+ continue to have various types of febrile and afebrile seizures later in life (summary by Singh et al., 1999).Mutations in certain genes can cause a phenotypic spectrum of overlap between the isolated febrile phenotype and the GEFS+ phenotype. For a general phenotypic description and a discussion of genetic heterogeneity of GEFS+, see {604233}.For a phenotypic description and a discussion of genetic heterogeneity of familial febrile seizures, see {121210}.

Most common symptoms of GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 7; GEFSP7

Seizures
Generalized tonic-clonic seizures
Focal-onset seizure
Febrile seizures
Absence seizures

More info about GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 7; GEFSP7

SOURCES: OMIM MESH

ERYTHROMELALGIA

Description

Erythromelalgia is a rare, genetic, peripheral neuropathy characterized by usually intermittent, often bilateral and symmetrical, paroxysmal hyperthermia of the extremities resulting in intense burning sensation, pain, elevated skin temperature, erythema, edema and numbness, which typically worsens with hot environments, exercise, and/or nighttime. Lower limbs are more commonly involved than upper ones, but face and trunk involvement have also been observed.

Most common symptoms of ERYTHROMELALGIA

Peripheral neuropathy
Recurrent respiratory infections
Erythema
Leukemia
Pruritus

More info about ERYTHROMELALGIA

SOURCES: ORPHANET

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 SCN9A

Potential gene panels for SCN9A gene

Epilepsy Advanced Sequencing and CNV Evaluation - Generalized, Absence, Focal,Febrile and Myoclonic Epilepsies Panel

United States.

By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation - Generalized, Absence, Focal,Febrile and Myoclonic Epilepsies that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN5A SCN9A ST3GAL5 SLC2A1 SLC35A2 SLC6A1

SCN9A gene related symptoms and diseases

Top 5 symptoms and clinical features associated to SCN9A gene

Other less frequent symptoms and clinical features

Rarely - Less than 30% cases

Rare diseases associated to SCN9A gene

CHANNELOPATHY-ASSOCIATED CONGENITAL INSENSITIVITY TO PAIN

Alternate names

INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL RECESSIVE; CIP

Alternate names

Description

Most common symptoms of INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL RECESSIVE; CIP

HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 2

Alternate names

Description

Most common symptoms of HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 2

MORVAN SYNDROME

Alternate names

Description

Most common symptoms of MORVAN SYNDROME

PRIMARY ERYTHERMALGIA

Alternate names

Description

Most common symptoms of PRIMARY ERYTHERMALGIA

DRAVET SYNDROME

Alternate names

Description

Most common symptoms of DRAVET SYNDROME

PAROXYSMAL EXTREME PAIN DISORDER

Alternate names

Description

Most common symptoms of PAROXYSMAL EXTREME PAIN DISORDER

GENERALIZED EPILEPSY WITH FEBRILE SEIZURES-PLUS

Alternate names

Description

Most common symptoms of GENERALIZED EPILEPSY WITH FEBRILE SEIZURES-PLUS

GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 7; GEFSP7

Alternate names

Description

Most common symptoms of GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 7; GEFSP7

ERYTHROMELALGIA

Description

Most common symptoms of ERYTHROMELALGIA

SODIUM CHANNELOPATHY-RELATED SMALL FIBER NEUROPATHY

Description

Search interest in SCN9A

Potential gene panels for SCN9A gene

Epilepsy Advanced Sequencing and CNV Evaluation - Generalized, Absence, Focal,Febrile and Myoclonic Epilepsies Panel

Epilepsy Advanced Sequencing and CNV Evaluation Panel

Epilepsy Advanced Sequencing and CNV Evaluation-Epileptic Encephalopathy Panel

NGS Epilepsy/Seizure Panel Panel

SCN9A, Sodium Voltage-Gated Channel Alpha Subunit 9 Panel

Epilepsy/Seizure Panel

Epilepsy Panel - Comprehensive Panel

Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies, PMP22 Deletion/Duplication with Reflex to Sequencing Panel Panel

Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies Panel, Sequencing Panel

SCN9A. Complete sequencing Panel

SCN1A, SCN1B, GABRG2, GABRD, SCN9A. NextGeneDx.Complete sequencing by NGS Panel

SCN9A. Complete sequencing Panel

SCN9A. Complete sequencing Panel

Primary Erythromelalgia (sequence analysis of SCN9A gene) Panel

Epilepsy, generalized, with febrile seizures plus, type 7 (sequence analysis of SCN9A gene) Panel

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

Epileptic encephalopathy (NGS panel for 67 genes) Panel

Paroxysmal extreme pain disorder (sequence analysis of SCN9A gene) Panel

Early Infantile Epileptic Encephalopathy Sequencing Panel with CNV Detection Panel

Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection Panel

Episodic Pain Syndrome Sequencing Panel with CNV Detection Panel

Hereditary Sensory and Autonomic Neuropathy Sequencing Panel with CNV Detection Panel

Sodium Channel, Voltage-Gated, Type IX, Alpha Subunit Disorders via SCN9A Gene Sequencing with CNV Detection Panel

Comprehensive Neuropathy Sequencing Panel with CNV Detection Panel

Osteogenesis Imperfecta and Hypophosphatasia (HPP) Sequencing Panel with CNV Detection Panel

Osteogenesis Imperfecta, Hypophosphatasia (HPP), and Inherited Hypophosphatemic Rickets Sequencing Panel with CNV Detection Panel

Epilepsy and Seizure Plus Sequencing Panel with CNV Detection Panel

Neuropathy Panel

SCN9A-Related Inherited Erythromelalgia Panel

SCN9A-Related Generalized Epilepsy with Febrile Seizures Plus Panel

Congenital Indifference to Pain, Autosomal Recessive Panel

Paroxysmal Extreme Pain Disorder Panel

Epileptic encephalopathy panel Panel

Febrile seizures / genetic epilepsy with febrile seizures plus (GEFS+) panel Panel