Indifference to Pain, Congenital, Autosomal Recessive
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Human loss or gain-of-function mutations in the gene encoding Na<sub>v</sub>1.7 channels (SCN9A) are associated with either absence of pain, as reported for congenital insensitivity to pain, or with exacerbation of pain, as reported for primary erythromelalgia and paroxysmal extreme pain disorder.
|
29166836 |
2018 |
Indifference to Pain, Congenital, Autosomal Recessive
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A novel SCN9A splicing mutation in a compound heterozygous girl with congenital insensitivity to pain, hyposmia and hypogeusia.
|
29978519 |
2018 |
Indifference to Pain, Congenital, Autosomal Recessive
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We confirm through electrophysiological analysis that this R1488* variant in SCN9A results in complete loss-of-function of Na<sub>v</sub>1.7, which is consistent with reports on other variants in this gene in subjects with CIP.
|
30037327 |
2018 |
Indifference to Pain, Congenital, Autosomal Recessive
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Small fibre neuropathy.
|
28665811 |
2017 |
Indifference to Pain, Congenital, Autosomal Recessive
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Biallelic truncating SCN9A mutation identified in four families with congenital insensitivity to pain from Pakistan.
|
27747863 |
2016 |
Indifference to Pain, Congenital, Autosomal Recessive
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In contrast, nonfunctional mutations in SCN9A are known to underlie congenital insensitivity to pain (CIP).
|
25995458 |
2015 |
Indifference to Pain, Congenital, Autosomal Recessive
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Loss-of-function mutations in the SCN9A gene encoding voltage-gated sodium channel Nav1.7 cause congenital insensitivity to pain in humans and mice.
|
26634308 |
2015 |
Indifference to Pain, Congenital, Autosomal Recessive
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
For example, the voltage-gated sodium ion channel Nav1.7 is expressed selectively in sensory and autonomic neurons; inactivating mutations in SCN9A, which encodes Nav1.7, result in congenital insensitivity to pain, whereas gain-of-function mutations in this gene produce distinct pain syndromes such as inherited erythromelalgia, paroxysmal extreme pain disorder, and small-fibre neuropathy.
|
24813307 |
2014 |
Indifference to Pain, Congenital, Autosomal Recessive
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Here we describe a patient with CIP with a new mutation in SCN9A not described yet.
|
24188911 |
2014 |
Indifference to Pain, Congenital, Autosomal Recessive
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Complete sequencing of the SCN9A gene in a Moroccan 3-year-old child with congenital insensitivity to pain.
|
25439579 |
2014 |
Indifference to Pain, Congenital, Autosomal Recessive
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Hereditary sensory and autonomic neuropathy type IID caused by an SCN9A mutation.
|
23596073 |
2013 |
Indifference to Pain, Congenital, Autosomal Recessive
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In CIP case 6, we identified a novel, de novo splicing mutation (IVS8-2A>G); this splicing mutation compounded with a nonsense mutation (R523>X) and abolished SCN9A mRNA expression almost completely compared with his unaffected father.
|
23129781 |
2013 |
Indifference to Pain, Congenital, Autosomal Recessive
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the SCN9A gene leading to deficiency of its protein product, Na(v)1.7, cause congenital indifference to pain (CIP).
|
22035805 |
2012 |
Indifference to Pain, Congenital, Autosomal Recessive
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in SCN9A, encoding the alpha subunit of the voltage-gated sodium channel (Nav1.7), have caused severe pain disorders and congenital insensitivity to pain.
|
23006801 |
2012 |
Indifference to Pain, Congenital, Autosomal Recessive
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Two novel mutations of SCN9A (Nav1.7) are associated with partial congenital insensitivity to pain.
|
20692858 |
2011 |
Indifference to Pain, Congenital, Autosomal Recessive
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in SCN9A cause three human pain disorders: bi-allelic loss of function mutations result in Channelopathy-associated Insensitivity to Pain (CIP), whereas activating mutations cause severe episodic pain in Paroxysmal Extreme Pain Disorder (PEPD) and Primary Erythermalgia (PE).
|
20635406 |
2010 |
Indifference to Pain, Congenital, Autosomal Recessive
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A nonsense mutation in the SCN9A gene in congenital insensitivity to pain.
|
20628234 |
2010 |
Indifference to Pain, Congenital, Autosomal Recessive
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in SCN9A cause three human pain disorders: bi-allelic loss of function mutations result in Channelopathy-associated Insensitivity to Pain (CIP), whereas activating mutations cause severe episodic pain in Paroxysmal Extreme Pain Disorder (PEPD) and Primary Erythermalgia (PE).
|
20635406 |
2010 |
Indifference to Pain, Congenital, Autosomal Recessive
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Loss-of-function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations.
|
17470132 |
2007 |
Indifference to Pain, Congenital, Autosomal Recessive
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
These genetic data further support the evidence that Nav1.7 plays an essential role in mediating pain in humans, and that SCN9A mutations identified in multiple different populations underlie CIP.
|
17470132 |
2007 |
Indifference to Pain, Congenital, Autosomal Recessive
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
An SCN9A channelopathy causes congenital inability to experience pain.
|
17167479 |
2006 |
Indifference to Pain, Congenital, Autosomal Recessive
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia.
|
14985375 |
2004 |
Indifference to Pain, Congenital, Autosomal Recessive
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Indifference to Pain, Congenital, Autosomal Recessive
|
0.800 |
Biomarker
|
disease |
CTD_human |
|
|
|
Indifference to Pain, Congenital, Autosomal Recessive
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|