CIP
MCID: IND012
MIFTS: 45

Indifference to Pain, Congenital, Autosomal Recessive (CIP)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Indifference to Pain, Congenital, Autosomal Recessive

MalaCards integrated aliases for Indifference to Pain, Congenital, Autosomal Recessive:

Name: Indifference to Pain, Congenital, Autosomal Recessive 58 76 30 6
Insensitivity to Pain, Channelopathy-Associated 58 13
Asymbolia for Pain 58 76
Cip 58 76
Channelopathy-Associated Congenital Insensitivity to Pain 60
Channelopathy-Associated Insensitivity to Pain 76
Congenital Analgesia, Autosomal Recessive 58
Congenital Analgesia Autosomal Recessive 76
Insensitivity to Pain, Congenital 58
Channelopathy-Associated Cip 60
Hsan2d, Autosomal Recessive 58

Characteristics:

Orphanet epidemiological data:

60
channelopathy-associated congenital insensitivity to pain
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy or childhood
variable severity (in patients with hsan2d)
affected individuals are highly prone to burn-related injuries


HPO:

33
indifference to pain, congenital, autosomal recessive:
Onset and clinical course variable expressivity infantile onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

OMIM 58 243000
MeSH 45 D000699
MESH via Orphanet 46 D000699 D009477
ICD10 via Orphanet 35 G60.8
UMLS via Orphanet 75 C0002768 C0020075
Orphanet 60 ORPHA88642
MedGen 43 C1855739

Summaries for Indifference to Pain, Congenital, Autosomal Recessive

OMIM : 58 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 (162400). (243000)

MalaCards based summary : Indifference to Pain, Congenital, Autosomal Recessive, also known as insensitivity to pain, channelopathy-associated, is related to critical illness polyneuropathy and marsili syndrome. An important gene associated with Indifference to Pain, Congenital, Autosomal Recessive is SCN9A (Sodium Voltage-Gated Channel Alpha Subunit 9), and among its related pathways/superpathways are Developmental Biology and G-Beta Gamma Signaling. Affiliated tissues include bone, prostate and lung, and related phenotypes are hypohidrosis and hyporeflexia

UniProtKB/Swiss-Prot : 76 Indifference to pain, congenital, autosomal recessive: A disorder characterized by congenital inability to perceive any form of pain, in any part of the body. All other sensory modalities are preserved and the peripheral and central nervous systems are apparently intact. Patients perceive the sensations of touch, warm and cold temperature, proprioception, tickle and pressure, but not painful stimuli. There is no evidence of a motor or sensory neuropathy, either axonal or demyelinating.

Related Diseases for Indifference to Pain, Congenital, Autosomal Recessive

Diseases related to Indifference to Pain, Congenital, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 55)
# Related Disease Score Top Affiliating Genes
1 critical illness polyneuropathy 11.8
2 marsili syndrome 11.5
3 neuropathy, hereditary sensory and autonomic, type v 11.5
4 neuropathy, hereditary sensory and autonomic, type vii 11.2
5 insensitivity to pain, congenital, with anhidrosis 11.1
6 pain sensitivity quantitative trait locus 1 10.5
7 breast cancer 10.1
8 polyneuropathy 10.1
9 lymphoma 10.0
10 squamous cell carcinoma 10.0
11 diabetes mellitus, noninsulin-dependent 9.9
12 ovarian cancer 9.9
13 prostate cancer 9.9
14 retinoblastoma 9.9
15 lung cancer 9.9
16 myeloma, multiple 9.9
17 pancreatic cancer 9.9
18 testicular germ cell tumor 9.9
19 testicular germ cell tumor 1 9.9
20 leukemia, acute myeloid 9.9
21 prostate cancer, hereditary, 8 9.9
22 prostate cancer, hereditary, 6 9.9
23 hyperprolactinemia 9.9
24 angina pectoris 9.9
25 b-cell lymphomas 9.9
26 chronic kidney failure 9.9
27 hydrocephalus 9.9
28 leukemia 9.9
29 oral squamous cell carcinoma 9.9
30 bone disease 9.9
31 respiratory failure 9.9
32 adult-onset still's disease 9.9
33 transient cerebral ischemia 9.9
34 dyskeratosis congenita 9.9
35 ischemia 9.9
36 testicular germ cell cancer 9.9
37 kidney disease 9.9
38 myeloid leukemia 9.9
39 bowenoid papulosis 9.9
40 germ cells tumors 9.9
41 mycobacterium abscessus 9.9
42 ovarian epithelial cancer 9.9
43 depression 9.9
44 hypoxia 9.9
45 complication after organ transplantation 9.9
46 generalized epilepsy with febrile seizures plus, type 7 9.9 SCN1A-AS1 SCN9A
47 trigeminal neuralgia 9.8 SCN10A SCN9A
48 generalized epilepsy with febrile seizures plus 9.8 SCN1A-AS1 SCN9A
49 neuropathy 9.8 SCN11A SCN9A
50 erythromelalgia 9.8 SCN10A SCN9A

Graphical network of the top 20 diseases related to Indifference to Pain, Congenital, Autosomal Recessive:



Diseases related to Indifference to Pain, Congenital, Autosomal Recessive

Symptoms & Phenotypes for Indifference to Pain, Congenital, Autosomal Recessive

Human phenotypes related to Indifference to Pain, Congenital, Autosomal Recessive:

33 (show all 9)
# Description HPO Frequency HPO Source Accession
1 hypohidrosis 33 HP:0000966
2 hyporeflexia 33 HP:0001265
3 urinary incontinence 33 HP:0000020
4 anosmia 33 HP:0000458
5 hyposmia 33 HP:0004409
6 anhidrosis 33 HP:0000970
7 abnormal autonomic nervous system physiology 33 HP:0012332
8 pain insensitivity 33 HP:0007021
9 painless fractures due to injury 33 HP:0002661

Symptoms via clinical synopsis from OMIM:

58
Neurologic Peripheral Nervous System:
hyporeflexia
isolated absence of pain sensation
temperature sensation may be diminished
all other sensory modalities are intact
normal peripheral nerve biopsy
more
Neurologic Central Nervous System:
anosmia
isolated absence of pain sensation
autonomic dysfunction (in patients with hsan2d)

Head And Neck Ears:
hearing impairment, asymmetric (in some patients with hsan2d)

Genitourinary Bladder:
urinary incontinence (in some patients with hsan2d)

Skeletal Feet:
ulceration of digits

Laboratory Abnormalities:
normal axonal flare response after intradermal histamine injection

Head And Neck Nose:
anosmia
hyposmia

Skeletal:
painless fractures due to injury
neuropathic joints
bone deformities resulting from untreated fractures
bone dysplasia (in some patients)

Head And Neck Mouth:
reduced numbers of tongue fungiform papilla (in some patients with hsan2d)

Skeletal Hands:
ulceration of digits

Skin Nails Hair Skin:
distal painless ulcers
hypohidrosis (in patients with hsan2d)
anhidrosis (in patients with hsan2d)

Clinical features from OMIM:

243000

Drugs & Therapeutics for Indifference to Pain, Congenital, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Indifference to Pain, Congenital, Autosomal Recessive

Genetic Tests for Indifference to Pain, Congenital, Autosomal Recessive

Genetic tests related to Indifference to Pain, Congenital, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Indifference to Pain, Congenital, Autosomal Recessive 30 SCN9A

Anatomical Context for Indifference to Pain, Congenital, Autosomal Recessive

MalaCards organs/tissues related to Indifference to Pain, Congenital, Autosomal Recessive:

42
Bone, Prostate, Lung, Myeloid, Tongue, Liver, Smooth Muscle

Publications for Indifference to Pain, Congenital, Autosomal Recessive

Articles related to Indifference to Pain, Congenital, Autosomal Recessive:

(show top 50) (show all 234)
# Title Authors Year
1
Critical Illness Polyneuropathy (CIP): a multicenter study on functional outcome. ( 30946550 )
2019
2
Evolutionary Approach of Intrinsically Disordered CIP/KIP Proteins. ( 30733475 )
2019
3
Effects of P27/Bmdacapo, in the CIP/KIP family, on cell proliferation, growth and development in the silkworm (Bombyx mori). ( 30898712 )
2019
4
Choice-Related Activity during Visual Slant Discrimination in Macaque CIP But Not V3A. ( 30923736 )
2019
5
Over Expressed TKTL1, CIP-2A, and B-MYB Proteins in Uterine Cervix Epithelium Scrapings as Potential Risk Predictive Biomarkers in HR-HPV-Infected LSIL/ASCUS Patients. ( 31001477 )
2019
6
Cardiac Troponin T Concentrations, Reversible Myocardial Ischemia, and Indices of Left Ventricular Remodeling in Patients with Suspected Stable Angina Pectoris: a DOPPLER-CIP Substudy. ( 29959147 )
2018
7
Cloning and Characterization of the Gene Encoding Alpha-Pinene Oxide Lyase Enzyme (Prα-POL) from Pseudomonas rhodesiae CIP 107491 and Production of the Recombinant Protein in Escherichia coli. ( 29285675 )
2018
8
Cellular Injuries in Cronobacter sakazakii CIP 103183T and Salmonella enterica Exposed to Drying and Subsequent Heat Treatment in Milk Powder. ( 29593704 )
2018
9
Draft Genome Sequence of the Fish Pathogen Flavobacterium columnare Genomovar III Strain PH-97028 (=CIP 109753). ( 29622616 )
2018
10
Genomic and phenotypic characterization of Borrelia afzelii BO23 and Borrelia garinii CIP 103362. ( 29944685 )
2018
11
A systematic characterization of the distribution, biofilm-forming potential and the resistance of the biofilms to the CIP processes of the bacteria in a milk powder processing factory. ( 30195526 )
2018
12
BRD4 inhibitor IBET upregulates p27kip/cip protein stability in neuroendocrine tumor cells. ( 28281917 )
2017
13
Development of an abbreviated Career Indecision Profile-65 using item response theory: The CIP-Short. ( 27929300 )
2017
14
The KIP/CIP family members p21^{Waf1/Cip1} and p57^{Kip2} as diagnostic markers for breast cancer. ( 28106536 )
2017
15
The susceptibility of Staphylococcus aureus CIP 65.8 and Pseudomonas aeruginosa ATCC 9721 cells to the bactericidal action of nanostructured Calopteryx haemorrhoidalis damselfly wing surfaces. ( 28246886 )
2017
16
Social validity of the Social Skills Improvement System-Classwide Intervention Program (SSIS-CIP) in the primary grades. ( 28414506 )
2017
17
Draft Genome Sequence of Mycobacterium boenickei CIP 107829. ( 28473389 )
2017
18
An Introduction to the Model of Crisis Intervention Procedure for Borderline Patients (CIP-BP): A Case Study. ( 28499576 )
2017
19
Cervical interfascial plane (CIP) block and multifidus cervicis plane (MCP) block: Similarities and tips. ( 28802607 )
2017
20
A large-scale viability assessment of the potato cryobank at the International Potato Center (CIP). ( 29104412 )
2017
21
Critical illness polyneuropathy (CIP) in neurological early rehabilitation: clinical and neurophysiological features. ( 27978832 )
2016
22
hERG1/Kv11.1 activation stimulates transcription of p21waf/cip in breast cancer cells via a calcineurin-dependent mechanism. ( 25945833 )
2016
23
An essential role for Ink4 and Cip/Kip cell-cycle inhibitors in preventing replicative stress. ( 26292757 )
2016
24
The Group B Streptococcus-Secreted Protein CIP Interacts with C4, Preventing C3b Deposition via the Lectin and Classical Complement Pathways. ( 26608922 )
2016
25
Interactions of ciprofloxacin (CIP), titanium dioxide (TiO2) nanoparticles and natural organic matter (NOM) in aqueous suspensions. ( 26765511 )
2016
26
Draft Genome Sequence of the Butyric Acid Producer Clostridium tyrobutyricum Strain CIP I-776 (IFP923). ( 26941139 )
2016
27
Overexpression of caspase 7 is ERα dependent to affect proliferation and cell growth in breast cancer cells by targeting p21(Cip). ( 27089142 )
2016
28
Video Extrapolation Method Based on Time-Varying Energy Optimization and CIP. ( 27305677 )
2016
29
Ctf4 Is a Hub in the Eukaryotic Replisome that Links Multiple CIP-Box Proteins to the CMG Helicase. ( 27397685 )
2016
30
Whole-Genome Sequence of Corynebacterium auriscanis Strain CIP 106629 Isolated from a Dog with Bilateral Otitis from the United Kingdom. ( 27516502 )
2016
31
The Potato Cryobank at The International Potato Center (Cip): A Model for Long Term Conservation of Clonal Plant Genetic Resources Collections of the Future. ( 27924999 )
2016
32
Complete Genome Sequence of Acinetobacter baumannii CIP 70.10, a Susceptible Reference Strain for Comparative Genome Analyses. ( 26227605 )
2015
33
Cardiomyocyte-enriched protein CIP protects against pathophysiological stresses and regulates cardiac homeostasis. ( 26436652 )
2015
34
Draft Genome Sequence of the Serratia rubidaea CIP 103234T Reference Strain, a Human-Opportunistic Pathogen. ( 26586886 )
2015
35
Robert J Herzog, D.D.S., CIP, chair of the NYSDA Committee on Chemical Dependency, provided the following response to Dr. Buccigrossi. ( 26749778 )
2015
36
Efficacy of the Social Skills Improvement System Classwide Intervention Program (SSIS-CIP) primary version. ( 25111465 )
2015
37
The activity and stability of the intrinsically disordered Cip/Kip protein family are regulated by non-receptor tyrosine kinases. ( 25463440 )
2015
38
CIP-36, a novel topoisomerase II-targeting agent, induces the apoptosis of multidrug-resistant cancer cells in vitro. ( 25592869 )
2015
39
Comparison of antibiotic prophylaxis with cotrimoxazole/colistin (COT/COL) versus ciprofloxacin (CIP) in patients with acute myeloid leukemia. ( 25617073 )
2015
40
Expression and mutational analysis of Cip/Kip family in early glottic cancer. ( 25695279 )
2015
41
Adding Only One Priority Rule Allows Extending CIP Rules to Supramolecular Systems. ( 25800349 )
2015
42
Gene expression of the p16(INK4a)-Rb and p19(Arf)-p53-p21(Cip/Waf1) signaling pathways in the regulation of hematopoietic stem cell aging by ginsenoside Rg1. ( 25501220 )
2014
43
Critical components of the pluripotency network are targets for the p300/CBP interacting protein (p/CIP) in embryonic stem cells. ( 24115386 )
2014
44
Transcriptional activation of p21(WAF¹/CIP¹) is mediated by increased DNA binding activity and increased interaction between p53 and Sp1 via phosphorylation during replicative senescence of human embryonic fibroblasts. ( 24445528 )
2014
45
Genetic characterization of the role of the Cip/Kip family of proteins as cyclin-dependent kinase inhibitors and assembly factors. ( 24515438 )
2014
46
Multivariate statistical monitoring as applied to clean-in-place (CIP) and steam-in-place (SIP) operations in biopharmaceutical manufacturing. ( 24532460 )
2014
47
Development of the radical-stable Coprinus cinereus peroxidase (CiP) by blocking the radical attack. ( 25197017 )
2014
48
Complete genome sequence of the Phaeobacter gallaeciensis type strain CIP 105210(T) (= DSM 26640(T) = BS107(T)). ( 25197473 )
2014
49
The properties given at the time of publication for the designated type strain of Leifsonia rubra Reddy et al. 2003, CMS 76r, do not correspond with those of MTCC 4210, DSM 15304, CIP 107783 and JCM 12471 that are deposited as representing the type strain: Opinion 96. Judicial Commission of the International Committee on Systematics of Prokaryotes. ( 25288665 )
2014
50
The differential susceptibilities of MCF-7 and MDA-MB-231 cells to the cytotoxic effects of curcumin are associated with the PI3K/Akt-SKP2-Cip/Kips pathway. ( 25530715 )
2014

Variations for Indifference to Pain, Congenital, Autosomal Recessive

UniProtKB/Swiss-Prot genetic disease variations for Indifference to Pain, Congenital, Autosomal Recessive:

76
# Symbol AA change Variation ID SNP ID
1 SCN9A p.Arg907Gln VAR_064610 rs102415236

ClinVar genetic disease variations for Indifference to Pain, Congenital, Autosomal Recessive:

6 (show top 50) (show all 51)
# Gene Variation Type Significance SNP ID Assembly Location
1 SCN9A NM_002977.3(SCN9A): c.1376C> G (p.Ser459Ter) single nucleotide variant Pathogenic rs121908908 GRCh37 Chromosome 2, 167143072: 167143072
2 SCN9A NM_002977.3(SCN9A): c.1376C> G (p.Ser459Ter) single nucleotide variant Pathogenic rs121908908 GRCh38 Chromosome 2, 166286562: 166286562
3 SCN9A SCN9A, 1-BP DEL, 2298T deletion Pathogenic
4 SCN9A NM_002977.3(SCN9A): c.2691G> A (p.Trp897Ter) single nucleotide variant Pathogenic rs121908909 GRCh37 Chromosome 2, 167133643: 167133643
5 SCN9A NM_002977.3(SCN9A): c.2691G> A (p.Trp897Ter) single nucleotide variant Pathogenic rs121908909 GRCh38 Chromosome 2, 166277133: 166277133
6 SCN9A NM_002977.3(SCN9A): c.829C> T (p.Arg277Ter) single nucleotide variant Pathogenic rs121908916 GRCh37 Chromosome 2, 167159672: 167159672
7 SCN9A NM_002977.3(SCN9A): c.829C> T (p.Arg277Ter) single nucleotide variant Pathogenic rs121908916 GRCh38 Chromosome 2, 166303162: 166303162
8 SCN9A NM_002977.3(SCN9A): c.984C> A (p.Tyr328Ter) single nucleotide variant Pathogenic rs121908917 GRCh37 Chromosome 2, 167149864: 167149864
9 SCN9A NM_002977.3(SCN9A): c.984C> A (p.Tyr328Ter) single nucleotide variant Pathogenic rs121908917 GRCh38 Chromosome 2, 166293354: 166293354
10 SCN9A NM_002977.3(SCN9A): c.184A> G (p.Ile62Val) single nucleotide variant Uncertain significance rs121908920 GRCh37 Chromosome 2, 167168083: 167168083
11 SCN9A NM_002977.3(SCN9A): c.184A> G (p.Ile62Val) single nucleotide variant Uncertain significance rs121908920 GRCh38 Chromosome 2, 166311573: 166311573
12 SCN9A NM_002977.3(SCN9A): c.3734A> G (p.Asn1245Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs141268327 GRCh37 Chromosome 2, 167094638: 167094638
13 SCN9A NM_002977.3(SCN9A): c.3734A> G (p.Asn1245Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs141268327 GRCh38 Chromosome 2, 166238128: 166238128
14 SCN9A NM_002977.3(SCN9A): c.4787C> T (p.Thr1596Ile) single nucleotide variant Uncertain significance rs200470541 GRCh37 Chromosome 2, 167056329: 167056329
15 SCN9A NM_002977.3(SCN9A): c.4787C> T (p.Thr1596Ile) single nucleotide variant Uncertain significance rs200470541 GRCh38 Chromosome 2, 166199819: 166199819
16 SCN9A NM_002977.3(SCN9A): c.3993delGinsTT (p.Leu1331Phefs) indel Pathogenic rs606231279 GRCh37 Chromosome 2, 167085381: 167085381
17 SCN9A NM_002977.3(SCN9A): c.3993delGinsTT (p.Leu1331Phefs) indel Pathogenic rs606231279 GRCh38 Chromosome 2, 166228871: 166228871
18 SCN9A NM_002977.3(SCN9A): c.1238T> C (p.Ile413Thr) single nucleotide variant Uncertain significance rs200689195 GRCh37 Chromosome 2, 167145023: 167145023
19 SCN9A NM_002977.3(SCN9A): c.1238T> C (p.Ile413Thr) single nucleotide variant Uncertain significance rs200689195 GRCh38 Chromosome 2, 166288513: 166288513
20 SCN9A NM_002977.3(SCN9A): c.684C> G (p.Ile228Met) single nucleotide variant Conflicting interpretations of pathogenicity rs71428908 GRCh37 Chromosome 2, 167160752: 167160752
21 SCN9A NM_002977.3(SCN9A): c.684C> G (p.Ile228Met) single nucleotide variant Conflicting interpretations of pathogenicity rs71428908 GRCh38 Chromosome 2, 166304242: 166304242
22 SCN9A NM_002977.3(SCN9A): c.2690G> A (p.Trp897Ter) single nucleotide variant Pathogenic rs794729216 GRCh37 Chromosome 2, 167133644: 167133644
23 SCN9A NM_002977.3(SCN9A): c.2690G> A (p.Trp897Ter) single nucleotide variant Pathogenic rs794729216 GRCh38 Chromosome 2, 166277134: 166277134
24 SCN9A NM_002977.3(SCN9A): c.1280T> C (p.Leu427Ser) single nucleotide variant Uncertain significance rs192406412 GRCh37 Chromosome 2, 167144981: 167144981
25 SCN9A NM_002977.3(SCN9A): c.1280T> C (p.Leu427Ser) single nucleotide variant Uncertain significance rs192406412 GRCh38 Chromosome 2, 166288471: 166288471
26 SCN9A NM_002977.3(SCN9A): c.2318C> G (p.Thr773Ser) single nucleotide variant Uncertain significance rs200624920 GRCh37 Chromosome 2, 167134816: 167134816
27 SCN9A NM_002977.3(SCN9A): c.2318C> G (p.Thr773Ser) single nucleotide variant Uncertain significance rs200624920 GRCh38 Chromosome 2, 166278306: 166278306
28 SCN9A NM_002977.3(SCN9A): c.1277T> A (p.Met426Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs200415928 GRCh37 Chromosome 2, 167144984: 167144984
29 SCN9A NM_002977.3(SCN9A): c.1277T> A (p.Met426Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs200415928 GRCh38 Chromosome 2, 166288474: 166288474
30 SCN9A NM_002977.3(SCN9A): c.3505A> G (p.Asn1169Asp) single nucleotide variant Uncertain significance rs750269576 GRCh37 Chromosome 2, 167099101: 167099101
31 SCN9A NM_002977.3(SCN9A): c.3505A> G (p.Asn1169Asp) single nucleotide variant Uncertain significance rs750269576 GRCh38 Chromosome 2, 166242591: 166242591
32 SCN9A NM_002977.3(SCN9A): c.1973G> A (p.Arg658His) single nucleotide variant Uncertain significance rs200374987 GRCh38 Chromosome 2, 166281777: 166281777
33 SCN9A NM_002977.3(SCN9A): c.1973G> A (p.Arg658His) single nucleotide variant Uncertain significance rs200374987 GRCh37 Chromosome 2, 167138287: 167138287
34 SCN9A NM_002977.3(SCN9A): c.5787C> G (p.Asn1929Lys) single nucleotide variant Uncertain significance rs371454107 GRCh37 Chromosome 2, 167055329: 167055329
35 SCN9A NM_002977.3(SCN9A): c.5787C> G (p.Asn1929Lys) single nucleotide variant Uncertain significance rs371454107 GRCh38 Chromosome 2, 166198819: 166198819
36 SCN9A NM_002977.3(SCN9A): c.4335C> G (p.Ile1445Met) single nucleotide variant Uncertain significance rs1362318488 GRCh38 Chromosome 2, 166226597: 166226597
37 SCN9A NM_002977.3(SCN9A): c.4335C> G (p.Ile1445Met) single nucleotide variant Uncertain significance rs1362318488 GRCh37 Chromosome 2, 167083107: 167083107
38 SCN9A NM_002977.3(SCN9A): c.2421_2425delAAGTT (p.Leu807Phefs) deletion Pathogenic rs766212849 GRCh37 Chromosome 2, 167134709: 167134713
39 SCN9A NM_002977.3(SCN9A): c.2421_2425delAAGTT (p.Leu807Phefs) deletion Pathogenic rs766212849 GRCh38 Chromosome 2, 166278199: 166278203
40 SCN9A NM_002977.3(SCN9A): c.553C> T (p.Arg185Cys) single nucleotide variant Uncertain significance rs202083986 GRCh37 Chromosome 2, 167162345: 167162345
41 SCN9A NM_002977.3(SCN9A): c.553C> T (p.Arg185Cys) single nucleotide variant Uncertain significance rs202083986 GRCh38 Chromosome 2, 166305835: 166305835
42 SCN9A NM_002977.3(SCN9A): c.4331delT (p.Val1444Alafs) deletion Pathogenic rs1553478584 GRCh37 Chromosome 2, 167083111: 167083111
43 SCN9A NM_002977.3(SCN9A): c.4331delT (p.Val1444Alafs) deletion Pathogenic rs1553478584 GRCh38 Chromosome 2, 166226601: 166226601
44 SCN9A NM_002977.3(SCN9A): c.5915G> T (p.Ser1972Ile) single nucleotide variant Uncertain significance rs770802841 GRCh38 Chromosome 2, 166198691: 166198691
45 SCN9A NM_002977.3(SCN9A): c.5915G> T (p.Ser1972Ile) single nucleotide variant Uncertain significance rs770802841 GRCh37 Chromosome 2, 167055201: 167055201
46 SCN9A NM_002977.3(SCN9A): c.1604C> T (p.Ser535Leu) single nucleotide variant Uncertain significance rs201354321 GRCh37 Chromosome 2, 167141333: 167141333
47 SCN9A NM_002977.3(SCN9A): c.1604C> T (p.Ser535Leu) single nucleotide variant Uncertain significance rs201354321 GRCh38 Chromosome 2, 166284823: 166284823
48 SCN9A NM_002977.3(SCN9A): c.1285C> T (p.Arg429Cys) single nucleotide variant Uncertain significance rs763256222 GRCh37 Chromosome 2, 167144976: 167144976
49 SCN9A NM_002977.3(SCN9A): c.1285C> T (p.Arg429Cys) single nucleotide variant Uncertain significance rs763256222 GRCh38 Chromosome 2, 166288466: 166288466
50 SCN9A NM_002977.3(SCN9A): c.4449A> G (p.Gln1483=) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 167060891: 167060891

Expression for Indifference to Pain, Congenital, Autosomal Recessive

Search GEO for disease gene expression data for Indifference to Pain, Congenital, Autosomal Recessive.

Pathways for Indifference to Pain, Congenital, Autosomal Recessive

Pathways related to Indifference to Pain, Congenital, Autosomal Recessive according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.82 SCN10A SCN11A SCN9A
2
Show member pathways
12.45 SCN10A SCN11A SCN9A
3
Show member pathways
12.27 SCN10A SCN11A SCN9A
4
Show member pathways
12.09 SCN10A SCN11A SCN9A
5 11.97 SCN10A SCN11A SCN9A
6
Show member pathways
11.43 SCN10A SCN11A SCN9A
7
Show member pathways
11.01 SCN10A SCN11A SCN9A
8 10.28 SCN10A SCN11A SCN9A

GO Terms for Indifference to Pain, Congenital, Autosomal Recessive

Cellular components related to Indifference to Pain, Congenital, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 axon GO:0030424 9.13 SCN10A SCN11A SCN9A
2 voltage-gated sodium channel complex GO:0001518 8.8 SCN10A SCN11A SCN9A

Biological processes related to Indifference to Pain, Congenital, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.61 SCN10A SCN11A SCN9A
2 transmembrane transport GO:0055085 9.58 SCN10A SCN11A SCN9A
3 regulation of ion transmembrane transport GO:0034765 9.5 SCN10A SCN11A SCN9A
4 ion transmembrane transport GO:0034220 9.46 SCN10A SCN9A
5 sodium ion transport GO:0006814 9.43 SCN10A SCN11A SCN9A
6 sensory perception of pain GO:0019233 9.37 SCN10A SCN9A
7 sodium ion transmembrane transport GO:0035725 9.33 SCN10A SCN11A SCN9A
8 neuronal action potential GO:0019228 9.13 SCN10A SCN11A SCN9A
9 membrane depolarization during action potential GO:0086010 8.8 SCN10A SCN11A SCN9A

Molecular functions related to Indifference to Pain, Congenital, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion channel activity GO:0005216 9.43 SCN10A SCN11A SCN9A
2 voltage-gated ion channel activity GO:0005244 9.33 SCN10A SCN11A SCN9A
3 sodium channel activity GO:0005272 9.13 SCN10A SCN11A SCN9A
4 voltage-gated sodium channel activity GO:0005248 8.8 SCN10A SCN11A SCN9A

Sources for Indifference to Pain, Congenital, Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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