PAINQTL1
MCID: PNS018
MIFTS: 23

Pain Sensitivity Quantitative Trait Locus 1 (PAINQTL1)

Aliases & Classifications for Pain Sensitivity Quantitative Trait Locus 1

MalaCards integrated aliases for Pain Sensitivity Quantitative Trait Locus 1:

Name: Pain Sensitivity Quantitative Trait Locus 1 56
Insensitivity to Pain 56
Pain Sensitivity Qtl1 56
Painqtl1 56

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
one family has been reported (last curated march 2019)
decreased need for analgesia during surgery
frequent painless injuries
the phenotype can be modified by presence of a polymorphism in the faah gene


HPO:

31
pain sensitivity quantitative trait locus 1:
Inheritance autosomal dominant inheritance


External Ids:

OMIM 56 618377
MedGen 41 C4760611
SNOMED-CT via HPO 68 263681008

Summaries for Pain Sensitivity Quantitative Trait Locus 1

MalaCards based summary : Pain Sensitivity Quantitative Trait Locus 1, also known as insensitivity to pain, is related to insensitivity to pain, congenital, with anhidrosis and insensitivity to pain with hyperplastic myelinopathy. Affiliated tissues include skin, bone and brain.

More information from OMIM: 618377

Related Diseases for Pain Sensitivity Quantitative Trait Locus 1

Diseases related to Pain Sensitivity Quantitative Trait Locus 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 118)
# Related Disease Score Top Affiliating Genes
1 insensitivity to pain, congenital, with anhidrosis 13.0
2 insensitivity to pain with hyperplastic myelinopathy 12.6
3 neuropathy, hereditary sensory and autonomic, type v 12.6
4 congenital insensitivity to pain with severe intellectual disability 12.6
5 congenital insensitivity to pain with hyperhidrosis 12.5
6 neuropathy, hereditary sensory and autonomic, type vii 12.3
7 indifference to pain, congenital, autosomal recessive 12.1
8 marsili syndrome 11.9
9 neuropathy, hereditary sensory and autonomic, type viii 11.7
10 hereditary sensory neuropathy 11.7
11 paroxysmal extreme pain disorder 11.5
12 neuropathy, hereditary sensory and autonomic, type iii 11.5
13 hereditary neuropathies 11.5
14 anosmia, isolated congenital 11.2
15 anhidrosis 10.9
16 autosomal recessive disease 10.6
17 autonomic neuropathy 10.6
18 osteomyelitis 10.5
19 sensory peripheral neuropathy 10.5
20 arthropathy 10.4
21 neuropathy 10.3
22 autonomic dysfunction 10.3
23 alacrima, achalasia, and mental retardation syndrome 10.2
24 neurogenic arthropathy 10.2
25 avascular necrosis 10.2
26 keratitis, hereditary 10.1
27 paine syndrome 10.1
28 pain agnosia 10.1
29 keratosis 10.1
30 dental caries 10.1
31 erythromelalgia 10.1
32 hypotonia 10.1
33 acroosteolysis 10.1
34 neuropathy, hereditary sensory and autonomic, type ia 10.1
35 cardiac arrest 10.1
36 peripheral nervous system disease 10.1
37 amyloidosis 10.1
38 dysautonomia 10.1
39 neurotrophic keratopathy 10.1
40 neuropathy, hereditary sensory and autonomic, type iia 10.0
41 septic arthritis 10.0
42 corneal ulcer 10.0
43 learning disability 10.0
44 hansen's disease 10.0
45 pure autonomic failure 10.0
46 chronic pain 10.0
47 cleft palate, isolated 9.8
48 attention deficit-hyperactivity disorder 9.8
49 hyper-ige recurrent infection syndrome 1, autosomal dominant 9.8
50 spastic paraplegia 3, autosomal dominant 9.8

Graphical network of the top 20 diseases related to Pain Sensitivity Quantitative Trait Locus 1:



Diseases related to Pain Sensitivity Quantitative Trait Locus 1

Symptoms & Phenotypes for Pain Sensitivity Quantitative Trait Locus 1

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
insensitivity to pain

Laboratory Abnormalities:
increased levels of circulating fatty acid amides

Neurologic Behavioral Psychiatric Manifestations:
non-anxious disposition
short memory lapses

Clinical features from OMIM:

618377

Drugs & Therapeutics for Pain Sensitivity Quantitative Trait Locus 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase II, Randomized, Double Blind, Cross-over, Placebo-controlled Study on Norepinephrine Replenishment Therapy Using L-DOPS in Congenital Insensitivity to Pain With Anhidrosis Patients Withdrawn NCT02624310 Phase 2 Droxidopa (L-DOPS);Placebo

Search NIH Clinical Center for Pain Sensitivity Quantitative Trait Locus 1

Genetic Tests for Pain Sensitivity Quantitative Trait Locus 1

Anatomical Context for Pain Sensitivity Quantitative Trait Locus 1

MalaCards organs/tissues related to Pain Sensitivity Quantitative Trait Locus 1:

40
Skin, Bone, Brain, Neutrophil, T Cells

Publications for Pain Sensitivity Quantitative Trait Locus 1

Articles related to Pain Sensitivity Quantitative Trait Locus 1:

(show top 50) (show all 477)
# Title Authors PMID Year
1
Microdeletion in a FAAH pseudogene identified in a patient with high anandamide concentrations and pain insensitivity. 56
30929760 2019
2
Congenital insensitivity to pain with anhidrosis syndrome: A series from Jordan. 61
31841741 2020
3
Onychomadesis and phalanx osteolysis in congenital insensitivity to pain with anhidrosis. 61
31990336 2020
4
Heterotopic ossifications and Charcot joints: Congenital insensitivity to pain with anhidrosis (CIPA) and a novel NTRK1 gene mutation. 61
30677517 2020
5
Pharmacological characterization of a rat Nav1.7 loss-of-function model with insensitivity to pain. 61
31977939 2020
6
Absence of VEGFR-1/Flt-1 signaling pathway in mice results in insensitivity to discogenic low back pain in an established disc injury mouse model. 61
31875985 2019
7
The role of sweat in the composition of skin microbiome: lessons learned from patients with congenital insensitivity to pain with anhidrosis. 61
31875978 2019
8
Anesthetic management of two siblings with congenital insensitivity to pain with anhidrosis syndrome. 61
31741348 2019
9
Pathobiology of Christianson syndrome: Linking disrupted endosomal-lysosomal function with intellectual disability and sensory impairments. 61
29772390 2019
10
A Child Presenting with Recurrent Corneal Ulcers: Hereditary Sensory and Autonomic Neuropathy IV (HSAN IV). 61
31741675 2019
11
[Congenital insensitivity to pain with anhidrosis: A case report and literature review]. 61
31857517 2019
12
Congenital Insensitivity to Pain: A Misnomer. 61
30716471 2019
13
Focal Epithelial Hyperplasia in a Child with Hereditary Sensory and Autonomic Neuropathy type IV: A Rare Co-Occurrence. 61
31645257 2019
14
The Orthopedic Manifestations of Congenital Insensitivity to Pain: A Population-based Study. 61
31488938 2019
15
Congenital insensitivity to pain in a 1-year-old boy. 61
31584034 2019
16
[METHICILLIN-RESISTANT VS. METHICILLIN-SUSCEPTIBLE STAPHYLOCOCCUS AUREUS (MRSA VS. MSSA) INFECTIONS IN CHILDREN IN SOUTHERN ISRAEL]. 61
31104387 2019
17
A clinical case-control comparison of epidermal innervation density in Rett syndrome. 61
30980517 2019
18
Congenital Insensitivity to Pain with Anhidrosis: A Case with Self-Inflicted Oral Ulcerations. 61
31395116 2019
19
A 10-year follow-up of asymptomatic Charcot hip joints caused by CIPA syndrome (congenital insensitivity to pain with anhidrosis) with failure of any surgical reconstructive treatment. 61
31186831 2019
20
Digital Amputation by Congenital Insensitivity to Pain with Anhidrosis. 61
30737035 2019
21
Defining the Functional Role of NaV1.7 in Human Nociception. 61
30795902 2019
22
Prdm12 Directs Nociceptive Sensory Neuron Development by Regulating the Expression of the NGF Receptor TrkA. 61
30917309 2019
23
Response to: Midface toddler excoriation syndrome (MiTES) can be caused by autosomal recessive biallelic mutations in a gene for congenital insensitivity to pain, PRDM12. 61
30339713 2019
24
Altered Global mRNA Expressions of Pain and Aggression Related Genes in the Blood of Children with Autism Spectrum Disorders. 61
30519864 2019
25
Heterogeneity of clinical features and mutation analysis of NTRK1 in Han Chinese patients with congenital insensitivity to pain with anhidrosis. 61
30774415 2019
26
Impaired sensorimotor control of the hand in congenital absence of functional muscle spindles. 61
30230986 2018
27
Congenital Loss of Permanent Teeth in a Patient With Congenital Insensitivity to Pain With Anhidrosis due to 2 Novel Mutations in the NTRK1 Gene. 61
30075136 2018
28
Identification of a novel mutation of the NTRK1 gene in patients with congenital insensitivity to pain with anhidrosis (CIPA). 61
30201336 2018
29
Postoperative redislocation of the hip in a patient with congenital insensitivity to pain with anhidrosis: A case report and review of literature. 61
30510952 2018
30
Phenotypic and genotypic features of a pair of Chinese identical twins with congenital insensitivity to pain and anhidrosis: A case report. 61
30461622 2018
31
Midface toddler excoriation syndrome (MiTES) can be caused by autosomal recessive biallelic mutations in a gene for congenital insensitivity to pain, PRDM12. 61
29949203 2018
32
Extreme Ends of Pain Sensitivity in SCN9A Mutation Variants: Case Report and Literature Review. 61
30834170 2018
33
Insensitivity to Pain upon Adult-Onset Deletion of Nav1.7 or Its Blockade with Selective Inhibitors. 61
30301756 2018
34
Anesthetic management of a patient with congenital insensitivity to pain with anhidrosis by coadministration of remifentanil. 61
32025911 2018
35
Charcot spinal arthropathy in patients with congenital insensitivity to pain: a report of two cases and review of the literature. 61
28124176 2018
36
A novel SCN9A splicing mutation in a compound heterozygous girl with congenital insensitivity to pain, hyposmia and hypogeusia. 61
29978519 2018
37
Location and Character of Volatile General Anesthetics Binding Sites in the Transmembrane Domain of TRPV1. 61
30067911 2018
38
Functional confirmation that the R1488* variant in SCN9A results in complete loss-of-function of Nav1.7. 61
30037327 2018
39
Congenital insensitivity to pain in one family. 61
27941533 2018
40
Phenotypic heterogeneity of intellectual disability in patients with congenital insensitivity to pain with anhidrosis: A case report and literature review. 61
29619836 2018
41
Congenital Insensitivity to Pain and Anhydrosis Syndrome. 61
29854651 2018
42
NGF-dependent neurons and neurobiology of emotions and feelings: Lessons from congenital insensitivity to pain with anhidrosis. 61
29407522 2018
43
A Case of Congenital Insensitivity to Pain With Anhidrosis Comorbid With Attention Deficit Hyperactivity Disorder: Clinical Implications for Pathophysiology and Treatment. 61
29595626 2018
44
Voltage-gated sodium channels: (NaV )igating the field to determine their contribution to visceral nociception. 61
29318638 2018
45
[Congenital Analgesia: report of 2 cases]. 61
30182557 2018
46
NaV1.7 and pain: contribution of peripheral nerves. 61
29194125 2018
47
Congenital Insensitivity to Pain Overview 61
29419974 2018
48
ARL6IP1 mutation causes congenital insensitivity to pain, acromutilation and spastic paraplegia. 61
28471035 2018
49
Hemodynamic Response to Massive Bleeding in a Patient with Congenital Insensitivity to Pain with Anhidrosis. 61
29971168 2018
50
Novel NTRK1 mutations in Chinese patients with congenital insensitivity to pain with anhidrosis. 61
29770739 2018

Variations for Pain Sensitivity Quantitative Trait Locus 1

Expression for Pain Sensitivity Quantitative Trait Locus 1

Search GEO for disease gene expression data for Pain Sensitivity Quantitative Trait Locus 1.

Pathways for Pain Sensitivity Quantitative Trait Locus 1

GO Terms for Pain Sensitivity Quantitative Trait Locus 1

Sources for Pain Sensitivity Quantitative Trait Locus 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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