MCID: PNS012
MIFTS: 35

Paine Syndrome malady

Summaries for Paine Syndrome

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MalaCards: Paine Syndrome, also known as microcephaly with spastic diplegia, is related to complex regional pain syndrome and patellofemoral pain syndrome. An important gene associated with Paine Syndrome is GRIN2C (glutamate receptor, ionotropic, N-methyl D-aspartate 2C), and among its related pathways are Synaptic Neurotransmission: Glutamatergic Excitation and Transcription Role of VDR in regulation of genes involved in osteoporosis. The compounds d-aspartate and l701324 have been mentioned in the context of this disorder. Related mouse phenotypes are cardiovascular system and nervous system.

Aliases & Classifications for Paine Syndrome

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42NIH Rare Diseases, 60UMLS
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Aliases & Descriptions:

paine syndrome 42 60
microcephaly with spastic diplegia 42


Related Diseases for Paine Syndrome

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17GeneCards, 18GeneDecks
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Diseases related to Paine Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 196)
idRelated DiseaseScoreTop Affiliating Genes
1complex regional pain syndrome31.7CALCA, TAC1
2patellofemoral pain syndrome31.5SCGB1D1, MSLNL
3cystitis31.1TAC1
4neuropathy30.2TAC1, CALCA
5migraine30.0CALCA, TAC1
6arthritis29.9IL6, TAC1, CALCA, CXCL9, TNF, CXCR3
7endometriosis29.9IL6
8meningitis29.6IL6
9rhinitis29.6TAC1
10ischemia29.6GRIN2B, GRIN1, EDN1
11ankylosing spondylitis29.6TNF
12rheumatoid arthritis29.6IL6, TAC1, CXCL9, CXCR3, TNF
13asthma29.6TNF, CXCL9, TAC1, EDN1, CXCR3
14irritable bowel syndrome29.6TAC1
15myofascial pain syndrome10.9
16prostatitis10.9
17reflex sympathetic dystrophy10.6
18causalgia10.4
19pain disorder10.4
20cervicitis10.4
21chronic interstitial cystitis10.4
22adult syndrome10.4
23chronic cystitis10.3
24image syndrome10.3
25chronic fatigue syndrome10.2
26bursitis10.2
27central post-stroke pain10.2
28episodic pain syndrome, familial10.1
29cerebritis10.1
30dyspepsia10.1
31burns10.0
32chondromalacia patellae10.0
33trigeminal neuralgia10.0
34down syndrome10.0
35thoracic outlet syndrome10.0
36chondromalacia10.0
37chronic cervicitis10.0
38episodic pain syndrome, familial, 210.0
39episodic pain syndrome, familial, 310.0
40complex regional pain syndrome type 110.0
41interstitial lung disease10.0TNF
42toxic encephalopathy10.0GRIN2B, GRIN2C, GRIN2A
43fibromyalgia10.0TAC1, GRIN2D
44herpes simplex10.0GRIN1
45lichen planus10.0CXCL9, CXCR3
46sudden infant death syndrome10.0TAC1, GRIN1
47proliferative glomerulonephritis10.0CXCR3, CXCL9
48paget's disease of bone10.0CALCA
49allergic rhinitis10.0CXCR3, TAC1
50bipolar disorder10.0GRIN2A, GRIN1, GRIN2B

Graphical network of the top 20 diseases related to Paine Syndrome:



Diseases related to paine syndrome

Clinical Features for Paine Syndrome

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Drugs & Therapeutics for Paine Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Paine Syndrome

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Anatomical Context for Paine Syndrome

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Animal Models for Paine Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Paine Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000538510.4TNF, EDN1, GRIN1, GRIN2D, CXCR3, IL6
2MP:000363110.3IL6, CALCA, TNF, GABPA, EDN1, GRIN2B
3MP:000538610.1GRIN2C, GRIN2B, TNF, CALCA, GRIN2A, GRIN3B

Publications for Paine Syndrome

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Genetic Variations for Paine Syndrome

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Expression for genes affiliated with Paine Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Paine Syndrome

Search GEO for disease gene expression data for Paine Syndrome.

Pathways for genes affiliated with Paine Syndrome

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52R&D Systems, 12EMD Millipore, 29KEGG, 53Reactome, 37NCBI BioSystems Database, 51QIAGEN
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Pathways related to Paine Syndrome according to GeneCards/GeneDecks:

(show all 26)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.5GRIN1, GRIN2A, GRIN2C, GRIN2B
2
Transcription Role of VDR in regulation of genes involved in osteoporosis
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10.4IL6, CALCA, TNF
310.4GRIN2A, GRIN2C, GRIN2D, GRIN1
410.4GRIN2B, GRIN2C, GRIN2A, GRIN1, GRIN2D
5
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10.4GRIN1, GRIN2D, GRIN2C, GRIN2B, GRIN2A
6
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10.4GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D
710.4GRIN2A, GRIN1, GRIN2C, GRIN2B, GRIN2D
8
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10.4GRIN2B, GRIN2D, GRIN1, GRIN2C, GRIN2A
910.4GRIN2A, GRIN2D, GRIN1, GRIN2C, GRIN2B
1010.4GRIN1, GRIN2C, GRIN2B, GRIN2A, GRIN2D
11
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10.4GRIN2A, GRIN1, GRIN2D, GRIN2C, GRIN2B
1210.4GRIN2C, GRIN2A, GRIN1, GRIN2D, GRIN2B
13
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10.4GRIN2C, GRIN2A, GRIN2B, GRIN1, GRIN2D
14
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10.4GRIN2C, GRIN2A, GRIN1, GRIN2B, GRIN2D
1510.4GRIN1, TAC1, IL6, TNF
16
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10.4IL6, GRIN2B, GRIN2C, GRIN1, GRIN2A, GRIN2D
1710.4GRIN2A, GRIN2C, GRIN2D, GRIN2B, TAC1, GRIN1
18
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10.4GRIN2D, GRIN3B, GRIN1, GRIN2B, GRIN2A, GRIN2C
1910.4GRIN2A, GRIN1, GRIN3A, GRIN2D, GRIN3B, GRIN2C
20
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10.4GRIN3A, GRIN2D, GRIN2A, GRIN2B, GRIN2C, GRIN3B
2110.4GRIN2A, GRIN2B, GRIN2C, GRIN2D, GRIN3B, GRIN1
2210.4GRIN2B, GRIN2D, GRIN3A, GRIN2C, GRIN3B, GRIN2A
23
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10.4GRIN2C, GRIN2A, GRIN1, GRIN2B, GRIN2D, CXCR3
24
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10.4GRIN2D, GRIN3A, GRIN1, GRIN3B, GRIN2A, GRIN2C
25
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10.4GRIN2C, GRIN1, GRIN2D, GRIN3A, GRIN3B, GRIN2A
26
Hide members
10.4EDN1, GRIN3A, GRIN2D, CXCR3, CXCL9, TAC1

Compounds for genes affiliated with Paine Syndrome

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28IUPHAR, 11DrugBank, 59Tocris Bioscience, 44Novoseek, 24HMDB, 2BitterDB, 49PharmGKB
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Compounds related to Paine Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 98)
idCompoundScoreTop Affiliating Genes
1d-aspartate2810.9GRIN1, GRIN2A, GRIN2C, GRIN2B, GRIN2D
2l7013242810.9GRIN2D, GRIN1, GRIN2C, GRIN2A, GRIN2B
3[3h]cgp396532810.9GRIN2B, GRIN2C, GRIN2A, GRIN1, GRIN2D
4[3h]mk-8012810.9GRIN1, GRIN2B, GRIN2C, GRIN2A, GRIN2D
5Tenocyclidine1110.9GRIN2B, GRIN2D, GRIN3A, GRIN3B, GRIN2A, GRIN2C
6l-aspartate2810.9GRIN2B, GRIN2C, GRIN2A, GRIN1, GRIN2D
7l6895602810.9GRIN2B, GRIN2C, GRIN1, GRIN2D, GRIN2A
8[3h]mdl1055192810.9GRIN2B, GRIN2C, GRIN2A, GRIN1, GRIN2D
9homoquinolinic acid2810.9GRIN2B, GRIN2C, GRIN2A, GRIN1, GRIN2D
10dl-ap5 sodium salt5910.9GRIN2B, GRIN2C, GRIN2A, GRIN3B, GRIN1, GRIN3A
11[3h]l6895602810.9GRIN2D, GRIN1, GRIN2A, GRIN2B, GRIN2C
12qnz 465910.9GRIN3A, GRIN1, GRIN3B, GRIN2A, GRIN2C, GRIN2B
13gv196771a2810.9GRIN2B, GRIN2C, GRIN2A, GRIN1, GRIN2D
14d-ap559 2811.8GPRIN1, GRIN2D, GRIN3A, GRIN1, GRIN3B, GRIN2A
15[3h]cgp615942810.8GRIN2D, GRIN1, GRIN2A, GRIN2C, GRIN2B
16(+)-mk 801 maleate5910.8GRIN2B, GRIN2C, GRIN2D, GRIN3A, GRIN1, GRIN3B
17[3h]cgs197552810.8GRIN2B, GRIN2C, GRIN2A, GRIN1, GRIN2D
18dl-ap55910.8GRIN2B, GPRIN1, GRIN2D, GRIN3A, GRIN1, GRIN3B
19(rs)-(tetrazol-5-yl)glycine2810.8GRIN2B, GRIN2C, GRIN2A, GRIN1, GRIN2D
20[3h]cpp2810.8GRIN2B, GRIN2C, GRIN2A, GRIN1, GRIN2D
21[3h]glycine2810.8GRIN2B, GRIN2C, GRIN2A, GRIN1, GRIN2D
225,7-dichlorokynurenic acid2810.8GRIN2D, GRIN1, GRIN2A, GRIN2C, GRIN2B
23phencyclidine44 28 1112.8GRIN3A, GRIN2B, GRIN2C, GRIN2A, GRIN1, GRIN2D
24d-serine28 11 2412.8GRIN2D, GRIN2A, GRIN1, GRIN2C, GRIN2B
25meperidine44 1111.8GRIN1, GRIN2B, GRIN2C, GRIN2A, GRIN2D
26l-glutamic acid28 11 2412.8GRIN3B, GRIN2A, GRIN2C, GRIN1, GRIN2D, GRIN2B
27memantine44 28 1112.8GRIN2D, GRIN3A, GRIN2A, GRIN2C, GRIN2B
28d-ccpene2810.8GRIN2C, GRIN2A, GRIN2D, GRIN2B
29glycine28 11 2412.8GRIN1, GRIN3B, GRIN2A, GRIN2C, GRIN2B, GRIN2D
30cgs197552810.8GRIN2C, GRIN2A, GRIN2D, GRIN2B
31ubp1412810.8GRIN2B, GRIN2C, GRIN2A, GRIN2D
32conantokin-g2810.8GRIN2B, GRIN2C, GRIN2A, GRIN2D
33n1-dansyl-spermine2810.8GRIN2D, GRIN2B, GRIN2C, GRIN2A
34amantidine2810.8GRIN2B, GRIN2C, GRIN2A, GRIN2D
35cgp378492810.7GRIN2B, GRIN2C, GRIN2D, GRIN2A
36ly2330532810.7GRIN2B, GRIN2D, GRIN2C, GRIN2A
37mk-8012810.7GRIN2D, GRIN2A, GRIN2B, GRIN2C
38ketamine44 28 1112.7GRIN2D, GRIN2C, GRIN2A, GRIN2B, GRIN3A
39nmda44 2811.7GRIN2D, GRIN2B, TAC1, GRIN2C, GRIN3A, GRIN1
40kainate44 2811.7GRIN2D, GRIN2B, GRIN2A, GRIN2C, TAC1, GRIN1
41mg2+2810.6GRIN2A, GRIN2D, GRIN2C, GRIN2B
42orphenadrine2 44 1112.6GRIN1, GRIN3A, GRIN2D, GRIN3B
43calcium44 49 11 2413.5GRIN2A, GRIN3B, GRIN3A, CXCL9, CXCR3, GRIN2D
44nitric oxide44 11 2412.5GRIN2B, GRIN1, CALCA, TNF, EDN1, IL6
45loperamide44 11 2412.5GRIN2C, GRIN2A, GRIN2D, GRIN2B
46histamine44 28 2412.5IL6, CXCL9, EDN1, CALCA, TAC1, TNF
47(+)-ha9662810.5GRIN1, GRIN2B, GRIN2A
48glutamate4410.4GRIN2B, GRIN2D, GRIN3A, GRIN1, GRIN2A, GRIN2C
49groalpha4410.3CXCL9, IL6, CXCR3, TNF
50felbamate44 1111.2GRIN3A, GRIN2A, GRIN2B

GO Terms for genes affiliated with Paine Syndrome

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16Gene Ontology
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Cellular components related to Paine Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1N-methyl-D-aspartate selective glutamate receptor complexGO:01714610.7GRIN3A, GRIN1, GRIN3B, GRIN2A, GRIN2C, GRIN2B
2postsynaptic membraneGO:04521110.6GRIN2B, GRIN2C, GRIN2A, GRIN3B, GRIN1, GRIN3A
3postsynaptic densityGO:01406910.6GRIN2B, GRIN2C, GRIN2A, GRIN1, GRIN3A
4cell junctionGO:03005410.6GRIN2B, GRIN2C, GRIN2A, GRIN3B, GRIN1, GRIN3A
5neuron projectionGO:04300510.5GRIN3A, GRIN1, GRIN2A, GRIN2B
6extracellular spaceGO:00561510.5CALCA, TNF, SCGB1D1, EDN1, CXCL9, IL6
7external side of plasma membraneGO:00989710.4TNF, CXCR3, CXCL9, IL6
8plasma membraneGO:00588610.4ART4, GRIN2B, GRIN2C, GRIN2A, GRIN1, GRIN2D
9synaptic vesicleGO:00802110.4GRIN1, GRIN2A, GRIN2B
10neuronal cell bodyGO:04302510.1CALCA, GRIN3B, GRIN3A, TAC1

Biological processes related to Paine Syndrome according to GeneCards/GeneDecks:

(show all 24)
idNameGO IDScoreTop Affiliating Genes
1regulation of excitatory postsynaptic membrane potentialGO:06007910.8GRIN1, GRIN2A, GRIN2C, GRIN2B
2startle responseGO:00196410.8GRIN2D, GRIN2A, GRIN2B
3glutamate receptor signaling pathwayGO:00721510.8GRIN2B, GRIN2C, GRIN2A
4response to ethanolGO:04547110.8GRIN3A, GRIN1, GRIN2A, GRIN2B
5sensory perception of painGO:01923310.8TAC1, GRIN1, GRIN2A, EDN1
6directional locomotionGO:03305810.8GRIN2A, GRIN2C
7synaptic transmissionGO:00726810.8GRIN2B, GRIN2C, GRIN2A, GRIN3B, GRIN1, GRIN2D
8regulation of sensory perception of painGO:05193010.8EDN1, GRIN2A, GRIN2D
9inflammatory responseGO:00695410.7CALCA, TNF, CXCR3, CXCL9, IL6, TAC1
10elevation of cytosolic calcium ion concentrationGO:00720410.7CALCA, EDN1, CXCR3, TAC1
11positive regulation of nitric oxide biosynthetic processGO:04542910.7IL6, EDN1, TNF
12positive regulation of smooth muscle cell proliferationGO:04866110.7TNF, EDN1, IL6
13calcium-mediated signalingGO:01972210.7CXCR3, EDN1, TNF
14epithelial cell proliferation involved in salivary gland morphogenesisGO:06066410.7TNF, IL6
15negative regulation of lipid storageGO:01088810.7TNF, IL6
16ionotropic glutamate receptor signaling pathwayGO:03523510.7GRIN3B, GRIN1
17positive regulation of acute inflammatory responseGO:00267510.6IL6, TAC1
18negative regulation of hormone secretionGO:04688810.6IL6, EDN1
19cell-cell signalingGO:00726710.6CALCA, EDN1, CXCL9, TAC1
20positive regulation of apoptotic processGO:04306510.5TNF, GRIN2A, GRIN1, IL6
21prepulse inhibitionGO:06013410.5GRIN3A, GRIN1
22suckling behaviorGO:00196710.5GRIN2B, GRIN1
23elevation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathwayGO:05148210.4EDN1, CALCA
24positive regulation of renal sodium excretionGO:03581510.1EDN1, TAC1

Molecular functions related to Paine Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular-glutamate-gated ion channel activityGO:00523410.5GRIN2D, GRIN2B, GRIN2C, GRIN2A, GRIN3B, GRIN1
2N-methyl-D-aspartate selective glutamate receptor activityGO:00497210.5GRIN2B, GRIN2C, GRIN2A, GRIN1, GRIN3A, GRIN2D
3glycine bindingGO:01659410.4GRIN2B, GRIN3B, GRIN1, GRIN3A
4cytokine activityGO:00512510.4IL6, CXCL9, EDN1, TNF
5calcium channel activityGO:00526210.3GRIN3A, GRIN1, GRIN3B, GRIN2A, GRIN2B
6neurotransmitter bindingGO:04216510.2GRIN3B, GRIN1, GRIN3A

Products for genes affiliated with Paine Syndrome

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Sources for Paine Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet