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 57
Insensitivity to Pain 57
Pain Sensitivity Qtl1 57
Painqtl1 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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® 57 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 neuropathy, hereditary sensory and autonomic, type v and insensitivity to pain, congenital, with anhidrosis. Affiliated tissues include skin, eye and bone.

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 122)
# Related Disease Score Top Affiliating Genes
1 neuropathy, hereditary sensory and autonomic, type v 12.0
2 insensitivity to pain, congenital, with anhidrosis 12.0
3 neuropathy, hereditary sensory and autonomic, type vii 11.7
4 indifference to pain, congenital, autosomal recessive 11.6
5 congenital insensitivity to pain with severe intellectual disability 11.5
6 marsili syndrome 11.4
7 insensitivity to pain with hyperplastic myelinopathy 11.4
8 ntrk1 congenital insensitivity to pain with anhidrosis 11.3
9 hereditary sensory neuropathy 11.3
10 neuropathy, hereditary sensory and autonomic, type viii 11.3
11 congenital insensitivity to pain with hyperhidrosis 11.2
12 paroxysmal extreme pain disorder 11.1
13 hereditary neuropathies 11.1
14 anhidrosis 11.0
15 anosmia, isolated congenital 11.0
16 autosomal recessive disease 10.7
17 autonomic neuropathy 10.7
18 osteomyelitis 10.6
19 sensory peripheral neuropathy 10.6
20 arthropathy 10.5
21 alacrima, achalasia, and mental retardation syndrome 10.4
22 neuropathy 10.4
23 autonomic dysfunction 10.4
24 neurogenic arthropathy 10.3
25 neuropathy, hereditary sensory and autonomic, type iia 10.3
26 avascular necrosis 10.3
27 generalized epilepsy with febrile seizures plus, type 7 10.3
28 generalized epilepsy with febrile seizures plus 10.3
29 keratitis, hereditary 10.2
30 paine syndrome 10.2
31 pain agnosia 10.2
32 keratosis 10.2
33 peripheral nervous system disease 10.2
34 erythromelalgia 10.2
35 hypotonia 10.2
36 acroosteolysis 10.2
37 neuropathy, hereditary sensory and autonomic, type ia 10.2
38 cardiac arrest 10.2
39 dental caries 10.2
40 amyloidosis 10.2
41 dysautonomia 10.2
42 neurotrophic keratopathy 10.2
43 syringomyelia, noncommunicating isolated 10.1
44 syringomyelia 10.1
45 septic arthritis 10.1
46 corneal ulcer 10.1
47 learning disability 10.1
48 hansen's disease 10.1
49 pure autonomic failure 10.1
50 cleft palate, isolated 9.9

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®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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, Eye, Bone, Neutrophil, Brain

Publications for Pain Sensitivity Quantitative Trait Locus 1

Articles related to Pain Sensitivity Quantitative Trait Locus 1:

(show top 50) (show all 517)
# Title Authors PMID Year
1
Microdeletion in a FAAH pseudogene identified in a patient with high anandamide concentrations and pain insensitivity. 57
30929760 2019
2
Selective Targeting of Nav1.7 with Engineered Spider Venom-Based Peptides. 61
33427574 2021
3
Antinociceptive properties of an isoform-selective inhibitor of Nav1.7 derived from saxitoxin in mouse models of pain. 61
33086288 2021
4
Skeletal complications in congenital insensitivity to pain and anhidrosis: a problem to reckon with. 61
33738666 2021
5
Loss of Prdm12 during development, but not in mature nociceptors, causes defects in pain sensation. 61
33789102 2021
6
Long-lasting analgesia via targeted in situ repression of NaV1.7 in mice. 61
33692134 2021
7
Reduced Myocardial Uptake of 123I-MIBG in Congenital Insensitivity to Pain With Anhidrosis. 61
33351513 2021
8
Guided growth in the correction of knee deformity in patients with congenital insensitivity to pain. 61
33706758 2021
9
Ocular manifestations of congenital insensitivity to pain: a long-term follow-up. 61
33753408 2021
10
Novel Gross Deletion Mutations in NTRK1 Gene Associated With Congenital Insensitivity to Pain With Anhidrosis. 61
33748046 2021
11
Satellite Glial Cells Give Rise to Nociceptive Sensory Neurons. 61
33389681 2021
12
Congenital insensitivity to pain with anhidrosis: A report of two unrelated Chinese families with novel mutations in NTRK1 gene. 61
33422294 2021
13
Bilateral harlequin syndrome, unilateral Horner syndrome, and Riga-Fede disease as presenting features of hereditary sensory and autonomic neuropathy type IV. 61
32985004 2021
14
Case Study of a Rare Genetic Disorder: Congenital Insensitivity to Pain With Anhidrosis. 61
33542881 2021
15
Congenital insensitivity to pain, with impaired pulmonary functions, and diminished cough reflex. 61
33174679 2021
16
Open Reduction and Internal Fixation of Femoral Fracture Without Anesthesia in Patient with Congenital Insensitivity to Pain and Anhidrosis. 61
33296458 2020
17
Anesthetic management of children with congenital insensitivity to pain with anhidrosis. 61
33376958 2020
18
Structural and functional annotation of PR/SET Domain (PRDM) protein family: In-silico study elaborating role of PRDM12 mutation in congenital insensitivity to pain. 61
33010785 2020
19
Perception of pungent, gustatory and olfactory stimuli in patients with congenital insensitivity to pain with anhidrosis. 61
33229797 2020
20
Studies on CRMP2 SUMOylation-deficient transgenic mice identify sex-specific Nav1.7 regulation in the pathogenesis of chronic neuropathic pain. 61
32569093 2020
21
Genetics of pain: From rare Mendelian disorders to genetic predisposition to pain. 61
33170156 2020
22
Fifteen years of NaV 1.7 channels as an analgesic target: Why has excellent in vitro pharmacology not translated into in vivo analgesic efficacy? 61
33206998 2020
23
PRDM12: New Opportunity in Pain Research. 61
32828702 2020
24
The painless eye: Neurotrophic keratitis in a child suffering from hereditary sensory autonomic neuropathy type IV. 61
32971688 2020
25
Two Case Reports of Neuropsychological Functioning in Congenital Insensitivity to Pain with Anhidrosis (CIPA). 61
32985248 2020
26
Onychomadesis and phalanx osteolysis in congenital insensitivity to pain with anhidrosis. 61
31990336 2020
27
Insensitivity to Pain, Self-mutilation, and Neuropathy Associated With PRDM12. 61
32409124 2020
28
Discovery of a selective, state-independent inhibitor of NaV1.7 by modification of guanidinium toxins. 61
32908170 2020
29
Molecular genetic analysis in 21 Chinese families with congenital insensitivity to pain with or without anhidrosis. 61
32219930 2020
30
Clinical, genomics and networking analyses of a high-altitude native American Ecuadorian patient with congenital insensitivity to pain with anhidrosis: a case report. 61
32807182 2020
31
Painful and painless mutations of SCN9A and SCN11A voltage-gated sodium channels. 61
32601768 2020
32
Alcohol-aggravated episodic pain in humans with SCN11A mutation and ALDH2 polymorphism. 61
32132394 2020
33
Painless: a case of congenital insensitivity to pain in a 5-year-old male. 61
32728449 2020
34
Conservative Treatment or Surgical Treatment: A Case Report and Literature Review of Multiple Fractures of the Lower Extremities in a Child with Insensitivity to Pain. 61
32307926 2020
35
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 2020
36
Pharmacological characterization of a rat Nav1.7 loss-of-function model with insensitivity to pain. 61
31977939 2020
37
Understanding the genetic basis of congenital insensitivity to pain. 61
32219415 2020
38
A novel biallelic single base insertion in WNK1 in a Pakistani family with congenital insensitivity to pain. 61
32127623 2020
39
Spider venom-derived peptide induces hyperalgesia in Nav1.7 knockout mice by activating Nav1.9 channels. 61
32385249 2020
40
The role of sweat in the composition of skin microbiome: lessons learned from patients with congenital insensitivity to pain with anhidrosis. 61
31875978 2020
41
Congenital Insensitivity to Pain with Anhidrosis: A Rare Entity. 61
32478001 2020
42
Population Study of Hand and Wrist Manifestations of Congenital Insensitivity to Pain. 61
32141314 2020
43
Congenital insensitivity to pain with anhidrosis syndrome: A series from Jordan. 61
31841741 2020
44
Novel SCN9A missense mutations contribute to congenital insensitivity to pain: Unexpected correlation between electrophysiological characterization and clinical phenotype. 61
32420800 2020
45
Catastrophic results due to unrecognizing of congenital insensitivity to pain with anhidrosis in children with multiple long bones fractures: A case report of 27 years follow-up of two siblings. 61
32707409 2020
46
Heterotopic ossifications and Charcot joints: Congenital insensitivity to pain with anhidrosis (CIPA) and a novel NTRK1 gene mutation. 61
30677517 2020
47
Gain-of-function mutation in SCN11A causes itch and affects neurogenic inflammation and muscle function in Scn11a+/L799P mice. 61
32817686 2020
48
A Child Presenting with Recurrent Corneal Ulcers: Hereditary Sensory and Autonomic Neuropathy IV (HSAN IV). 61
31741675 2019
49
Pathobiology of Christianson syndrome: Linking disrupted endosomal-lysosomal function with intellectual disability and sensory impairments. 61
29772390 2019
50
Anesthetic management of two siblings with congenital insensitivity to pain with anhidrosis syndrome. 61
31741348 2019

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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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