MCID: PNS012
MIFTS: 35

Paine Syndrome malady

Summaries for Paine Syndrome

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33MalaCards
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MalaCards: Paine Syndrome, also known as microcephaly with spastic diplegia, is related to patellofemoral pain syndrome and fibromyalgia. 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

Sources:
43NIH Rare Diseases, 61UMLS
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Aliases & Descriptions:

paine syndrome 43 61
microcephaly with spastic diplegia 43


Related Diseases for Paine Syndrome

Sources:
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 207)
idRelated DiseaseScoreTop Affiliating Genes
1patellofemoral pain syndrome31.5SCGB1D1, MSLNL
2fibromyalgia30.8TAC1, GRIN2D
3arthritis29.9IL6, TAC1, CALCA, CXCL9, TNF, CXCR3
4ankylosing spondylitis29.7TNF
5asthma29.6TNF, CXCL9, TAC1, EDN1, CXCR3
6coronary heart disease29.6EDN1, IL6
7irritable bowel syndrome29.6TAC1
8chronic pain11.0
9n syndrome10.9
10myofascial pain syndrome10.9
11reflex sympathetic dystrophy10.6
12causalgia10.5
13char syndrome10.4
14pain disorder10.4
15chronic interstitial cystitis10.4
16adult syndrome10.4
17bod syndrome10.3
18image syndrome10.3
19back pain10.3
20chronic fatigue syndrome10.2
21micro syndrome10.2
22young syndrome10.2
23central post-stroke pain10.2
24mast syndrome10.2
25short syndrome10.2
26dyspepsia10.1
27conn's syndrome10.1
28headache10.1
29episodic pain syndrome, familial10.1
30chondromalacia patellae10.0
31trigeminal neuralgia10.0
32algoneurodystrophy10.0
33thoracic outlet syndrome10.0
34mass syndrome10.0
35paroxysmal extreme pain disorder10.0
36autonomic dysfunction10.0
37episodic pain syndrome, familial, 210.0
38complex regional pain syndrome type 110.0
39interstitial lung disease10.0TNF
40cystitis10.0TAC1
41complex regional pain syndrome10.0CALCA, TAC1
42toxic encephalopathy10.0GRIN2B, GRIN2C, GRIN2A
43herpes simplex10.0GRIN1
44lichen planus10.0CXCL9, CXCR3
45sudden infant death syndrome10.0TAC1, GRIN1
46proliferative glomerulonephritis10.0CXCR3, CXCL9
47meningitis10.0IL6
48rhinitis10.0TAC1
49ischemia10.0GRIN2B, GRIN1, EDN1
50paget's disease of bone10.0CALCA

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



Diseases related to paine syndrome

Clinical Features for Paine Syndrome

Drugs & Therapeutics for Paine Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search CenterWatch for Paine Syndrome

Genetic Tests for Paine Syndrome

Anatomical Context for Paine Syndrome

Animal Models for Paine Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Paine Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000538510.4IL6, CXCR3, GRIN2D, GRIN1, EDN1, TNF
2MP:000363110.3CALCA, IL6, GRIN2D, GRIN3A, GRIN1, GRIN3B
3MP:000538610.1CALCA, TNF, GRIN2B, GRIN2C, GRIN2A, TAC1

Publications for Paine Syndrome

Sources:
51PubMed
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Articles related to Paine Syndrome:

idTitleAuthorsYear
1
X-chromosomal recessive microcephaly with epilepsy, spastic tetraplegia and absent abdominal reflexes. New variety of "Paine syndrome"? (4274173)
1973

Genetic Variations for Paine Syndrome

Expression for genes affiliated with Paine Syndrome

Sources:
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

Sources:
53R&D Systems, 12EMD Millipore, 30KEGG, 54Reactome, 38NCBI BioSystems Database, 52QIAGEN
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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
Hide members
10.4IL6, CALCA, TNF
310.4GRIN2A, GRIN2C, GRIN2D, GRIN1
410.4GRIN2B, GRIN2C, GRIN2A, GRIN1, GRIN2D
5
Hide members
10.4GRIN1, GRIN2D, GRIN2C, GRIN2B, GRIN2A
6
Hide members
10.4GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D
710.4GRIN2A, GRIN1, GRIN2C, GRIN2B, GRIN2D
8
Hide members
10.4GRIN2B, GRIN2D, GRIN1, GRIN2C, GRIN2A
910.4GRIN2A, GRIN2D, GRIN1, GRIN2C, GRIN2B
1010.4GRIN1, GRIN2C, GRIN2B, GRIN2A, GRIN2D
11
Hide members
10.4GRIN2A, GRIN1, GRIN2D, GRIN2C, GRIN2B
1210.4GRIN2C, GRIN2A, GRIN1, GRIN2D, GRIN2B
13
Hide members
10.4GRIN2C, GRIN2A, GRIN2B, GRIN1, GRIN2D
14
Hide members
10.4GRIN2C, GRIN2A, GRIN1, GRIN2B, GRIN2D
1510.4GRIN1, TAC1, IL6, TNF
16
Hide members
10.4IL6, GRIN2B, GRIN2C, GRIN1, GRIN2A, GRIN2D
1710.4GRIN2A, GRIN2C, GRIN2D, GRIN2B, TAC1, GRIN1
18
Hide members
10.4GRIN2D, GRIN3B, GRIN1, GRIN2B, GRIN2A, GRIN2C
1910.4GRIN2A, GRIN1, GRIN3A, GRIN2D, GRIN3B, GRIN2C
20
Hide members
10.4GRIN3A, GRIN2D, GRIN2A, GRIN2B, GRIN2C, GRIN3B
2110.4GRIN2A, GRIN2B, GRIN2C, GRIN2D, GRIN3B, GRIN1
2210.4GRIN2B, GRIN2D, GRIN3A, GRIN2C, GRIN3B, GRIN2A
23
Hide members
10.4GRIN2C, GRIN2A, GRIN1, GRIN2B, GRIN2D, CXCR3
24
Hide members
10.4GRIN2D, GRIN3A, GRIN1, GRIN3B, GRIN2A, GRIN2C
25
Hide members
10.4GRIN2C, GRIN1, GRIN2D, GRIN3A, GRIN3B, GRIN2A
26
Hide members
10.4EDN1, GRIN3A, GRIN2D, CXCR3, CXCL9, TAC1

Compounds for genes affiliated with Paine Syndrome

Sources:
29IUPHAR, 11DrugBank, 60Tocris Bioscience, 45Novoseek, 24HMDB, 2BitterDB, 50PharmGKB
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Compounds related to Paine Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 98)
idCompoundScoreTop Affiliating Genes
1d-aspartate2910.9GRIN1, GRIN2A, GRIN2C, GRIN2B, GRIN2D
2l7013242910.9GRIN2D, GRIN1, GRIN2C, GRIN2A, GRIN2B
3[3h]cgp396532910.9GRIN2B, GRIN2C, GRIN2A, GRIN1, GRIN2D
4[3h]mk-8012910.9GRIN1, GRIN2B, GRIN2C, GRIN2A, GRIN2D
5Tenocyclidine1110.9GRIN2B, GRIN2D, GRIN3A, GRIN3B, GRIN2A, GRIN2C
6l-aspartate2910.9GRIN2B, GRIN2C, GRIN2A, GRIN1, GRIN2D
7l6895602910.9GRIN2B, GRIN2C, GRIN1, GRIN2D, GRIN2A
8[3h]mdl1055192910.9GRIN2B, GRIN2C, GRIN2A, GRIN1, GRIN2D
9homoquinolinic acid2910.9GRIN2B, GRIN2C, GRIN2A, GRIN1, GRIN2D
10dl-ap5 sodium salt6010.9GRIN2B, GRIN2C, GRIN2A, GRIN3B, GRIN1, GRIN3A
11[3h]l6895602910.9GRIN2D, GRIN1, GRIN2A, GRIN2B, GRIN2C
12qnz 466010.9GRIN3A, GRIN1, GRIN3B, GRIN2A, GRIN2C, GRIN2B
13gv196771a2910.9GRIN2B, GRIN2C, GRIN2A, GRIN1, GRIN2D
14d-ap560 2911.8GPRIN1, GRIN2D, GRIN3A, GRIN1, GRIN3B, GRIN2A
15[3h]cgp615942910.8GRIN2D, GRIN1, GRIN2A, GRIN2C, GRIN2B
16(+)-mk 801 maleate6010.8GRIN2B, GRIN2C, GRIN2D, GRIN3A, GRIN1, GRIN3B
17[3h]cgs197552910.8GRIN2B, GRIN2C, GRIN2A, GRIN1, GRIN2D
18dl-ap56010.8GRIN2B, GPRIN1, GRIN2D, GRIN3A, GRIN1, GRIN3B
19(rs)-(tetrazol-5-yl)glycine2910.8GRIN2B, GRIN2C, GRIN2A, GRIN1, GRIN2D
20[3h]cpp2910.8GRIN2B, GRIN2C, GRIN2A, GRIN1, GRIN2D
21[3h]glycine2910.8GRIN2B, GRIN2C, GRIN2A, GRIN1, GRIN2D
225,7-dichlorokynurenic acid2910.8GRIN2D, GRIN1, GRIN2A, GRIN2C, GRIN2B
23phencyclidine45 29 1112.8GRIN3A, GRIN2B, GRIN2C, GRIN2A, GRIN1, GRIN2D
24d-serine29 11 2412.8GRIN2D, GRIN2A, GRIN1, GRIN2C, GRIN2B
25meperidine45 1111.8GRIN1, GRIN2B, GRIN2C, GRIN2A, GRIN2D
26l-glutamic acid29 11 2412.8GRIN3B, GRIN2A, GRIN2C, GRIN1, GRIN2D, GRIN2B
27memantine45 29 1112.8GRIN2D, GRIN3A, GRIN2A, GRIN2C, GRIN2B
28d-ccpene2910.8GRIN2C, GRIN2A, GRIN2D, GRIN2B
29glycine29 11 2412.8GRIN1, GRIN3B, GRIN2A, GRIN2C, GRIN2B, GRIN2D
30cgs197552910.8GRIN2C, GRIN2A, GRIN2D, GRIN2B
31ubp1412910.8GRIN2B, GRIN2C, GRIN2A, GRIN2D
32conantokin-g2910.8GRIN2B, GRIN2C, GRIN2A, GRIN2D
33n1-dansyl-spermine2910.8GRIN2D, GRIN2B, GRIN2C, GRIN2A
34amantidine2910.8GRIN2B, GRIN2C, GRIN2A, GRIN2D
35cgp378492910.7GRIN2B, GRIN2C, GRIN2D, GRIN2A
36ly2330532910.7GRIN2B, GRIN2D, GRIN2C, GRIN2A
37mk-8012910.7GRIN2D, GRIN2A, GRIN2B, GRIN2C
38ketamine45 29 1112.7GRIN2D, GRIN2C, GRIN2A, GRIN2B, GRIN3A
39nmda45 2911.7GRIN2D, GRIN2B, TAC1, GRIN2C, GRIN3A, GRIN1
40kainate45 2911.7GRIN2D, GRIN2B, GRIN2A, GRIN2C, TAC1, GRIN1
41mg2+2910.6GRIN2A, GRIN2D, GRIN2C, GRIN2B
42orphenadrine2 45 1112.6GRIN1, GRIN3A, GRIN2D, GRIN3B
43calcium45 50 11 2413.5GRIN2A, GRIN3B, GRIN3A, CXCL9, CXCR3, GRIN2D
44nitric oxide45 11 2412.5GRIN2B, GRIN1, CALCA, TNF, EDN1, IL6
45loperamide45 11 2412.5GRIN2C, GRIN2A, GRIN2D, GRIN2B
46histamine45 29 2412.5IL6, CXCL9, EDN1, CALCA, TAC1, TNF
47(+)-ha9662910.5GRIN1, GRIN2B, GRIN2A
48glutamate4510.4GRIN2B, GRIN2D, GRIN3A, GRIN1, GRIN2A, GRIN2C
49groalpha4510.3CXCL9, IL6, CXCR3, TNF
50felbamate45 1111.2GRIN3A, GRIN2A, GRIN2B

GO Terms for genes affiliated with Paine Syndrome

Sources:
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:01714610.7GRIN2B, GRIN3A, GRIN1, GRIN3B, GRIN2A, GRIN2C
2postsynaptic membraneGO:04521110.6GRIN2B, GRIN2D, GRIN3A, GRIN1, GRIN3B, GRIN2A
3postsynaptic densityGO:01406910.6GRIN2B, GRIN2C, GRIN2A, GRIN1, GRIN3A
4cell junctionGO:03005410.6GRIN3A, GRIN1, GRIN3B, GRIN2D, GRIN2A, GRIN2C
5neuron projectionGO:04300510.5GRIN1, GRIN2A, GRIN2B, GRIN3A
6extracellular spaceGO:00561510.5TAC1, IL6, CXCL9, EDN1, SCGB1D1, TNF
7external side of plasma membraneGO:00989710.4CXCL9, TNF, CXCR3, IL6
8plasma membraneGO:00588610.4TAC1, CXCR3, GRIN2D, GRIN1, GRIN2A, GRIN2C
9synaptic vesicleGO:00802110.4GRIN1, GRIN2A, GRIN2B
10neuronal cell bodyGO:04302510.1GRIN3B, GRIN3A, TAC1, CALCA

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

(show all 24)
idNameGO IDScoreTop Affiliating Genes
1regulation of excitatory postsynaptic membrane potentialGO:06007910.8GRIN2B, GRIN2C, GRIN2A, GRIN1
2startle responseGO:00196410.8GRIN2B, GRIN2A, GRIN2D
3glutamate receptor signaling pathwayGO:00721510.8GRIN2A, GRIN2C, GRIN2B
4response to ethanolGO:04547110.8GRIN1, GRIN3A, GRIN2A, GRIN2B
5sensory perception of painGO:01923310.8GRIN2A, GRIN1, EDN1, TAC1
6directional locomotionGO:03305810.8GRIN2A, GRIN2C
7synaptic transmissionGO:00726810.8GRIN2B, GRIN2C, GRIN2A, GRIN3B, GRIN1, GRIN2D
8regulation of sensory perception of painGO:05193010.8GRIN2D, EDN1, GRIN2A
9inflammatory responseGO:00695410.7CALCA, TNF, CXCR3, CXCL9, IL6, TAC1
10elevation of cytosolic calcium ion concentrationGO:00720410.7EDN1, CALCA, CXCR3, TAC1
11positive regulation of nitric oxide biosynthetic processGO:04542910.7EDN1, TNF, IL6
12positive regulation of smooth muscle cell proliferationGO:04866110.7IL6, EDN1, TNF
13calcium-mediated signalingGO:01972210.7EDN1, CXCR3, TNF
14epithelial cell proliferation involved in salivary gland morphogenesisGO:06066410.7TNF, IL6
15negative regulation of lipid storageGO:01088810.7IL6, TNF
16ionotropic glutamate receptor signaling pathwayGO:03523510.7GRIN3B, GRIN1
17positive regulation of acute inflammatory responseGO:00267510.6TAC1, IL6
18negative regulation of hormone secretionGO:04688810.6EDN1, IL6
19cell-cell signalingGO:00726710.6CALCA, EDN1, TAC1, CXCL9
20positive regulation of apoptotic processGO:04306510.5TNF, GRIN1, IL6, GRIN2A
21prepulse inhibitionGO:06013410.5GRIN3A, GRIN1
22positive regulation of renal sodium excretionGO:03581510.4TAC1, EDN1
23suckling behaviorGO:00196710.4GRIN1, GRIN2B
24elevation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathwayGO:05148210.2CALCA, EDN1

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

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

Products for genes affiliated with Paine Syndrome

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Sources for Paine Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet