MCID: PLG004
MIFTS: 29

Plagiocephaly malady

Summaries for Plagiocephaly

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63Wikipedia, 32MalaCards
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Wikipedia:63 Plagiocephaly, also known as flat head syndrome, is a condition characterized by an asymmetrical... more...

MalaCards: Plagiocephaly is related to synostosis and craniosynostosis. An important gene associated with Plagiocephaly is FGFR3 (fibroblast growth factor receptor 3), and among its related pathways are TGF-Beta Pathway and p70S6K Signaling. The compounds SU4984 and Regorafenib have been mentioned in the context of this disorder. Related mouse phenotypes are hearing/vestibular/ear and craniofacial.

Aliases & Classifications for Plagiocephaly

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42NIH Rare Diseases, 25ICD10
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Related Diseases for Plagiocephaly

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

(show top 50)    (show all 88)
idRelated DiseaseScoreTop Affiliating Genes
1synostosis30.8TWIST1, FGFR3, FGFR1, FGFR2
2craniosynostosis30.4TWIST1, FGFR2, FGFR1, FGFR3
3strabismus30.3FGFR2, FGFR3
4crouzon syndrome29.8FGFR2, FGFR3, FGFR1
5muenke syndrome29.8FGFR1, FGFR2, TWIST1, FGFR3
6craniosynostosis 310.2
7intellectual deficit, x-linked - plagiocephaly10.2
8plagiocephaly and x-linked mental retardation10.1
9monoclonal gammopathy of uncertain significance10.0FGFR3
10pseudohypoparathyroidism10.0BGLAP
11osteochondroma10.0FGFR3
12cervical cancer10.0FGFR3
13sarcoma10.0TWIST1
14osteoglophonic dysplasia10.0FGFR1
15cleft lip10.0FGFR1
16myelodysplastic syndromes10.0FGFR1
17beare-stevenson cutis gyrata syndrome10.0FGFR2
18antley-bixler syndrome10.0FGFR2
19short stature10.0BGLAP, FGFR3
20osteosarcoma10.0BGLAP, TWIST1
21parathyroid adenoma10.0FGFR2
22giant cell tumor10.0BGLAP, FGFR3
23osteogenesis imperfecta10.0BGLAP, FGFR3
24achondroplasia10.0FGFR2, FGFR3
25syndactyly10.0FGFR2, FGFR3
26ladd syndrome10.0FGFR3, FGFR2
27retinoblastoma10.0FGFR2, FGFR3
28thanatophoric dysplasia10.0FGFR2, FGFR3
29thyroid cancer10.0FGFR2, BGLAP
30acanthosis nigricans10.0FGFR2, FGFR3
31infectious mononucleosis10.0FGFR1, FGFR2
32bladder carcinoma10.0FGFR3, FGFR2
33adenocarcinoma10.0FGFR1, FGFR2
34nasopharynx carcinoma10.0FGFR1, TWIST1
35fgfr-related craniosynostosis syndromes10.0FGFR1, FGFR2, FGFR3
36jackson-weiss syndrome10.0FGFR2, FGFR1, FGFR3
37acrocephalosyndactylia10.0FGFR2, FGFR1, FGFR3
38hypochondroplasia10.0FGFR2, FGFR3, FGFR1
39skeletal dysplasias10.0FGFR2, FGFR3, FGFR1
40chondrosarcoma10.0FGFR2, FGFR3, FGFR1
41developmental disabilities10.0FGFR3, FGFR1, FGFR2
42dwarfism10.0FGFR2, FGFR1, FGFR3
43pancreatic cancer10.0FGFR2, FGFR1, TWIST1
44transitional cell carcinoma10.0FGFR2, FGFR3
45cleft palate10.0FGFR1, TWIST1, FGFR2
46stomach cancer10.0TWIST1, FGFR2, FGFR1
47leukemia10.0FGFR3, FGFR2, FGFR1
48prostate cancer10.0FGFR1, FGFR2, BGLAP
49breast cancer10.0FGFR2, FGFR1, TWIST1
50hepatocellular carcinoma10.0TWIST1, FGFR1, FGFR2

Graphical network of the top 20 diseases related to Plagiocephaly:



Diseases related to plagiocephaly

Clinical Features for Plagiocephaly

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Drugs & Therapeutics for Plagiocephaly

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

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Drug clinical trials:

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Search NIH Clinical Center for Plagiocephaly

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Genetic Tests for Plagiocephaly

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Anatomical Context for Plagiocephaly

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Animal Models for Plagiocephaly or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Plagiocephaly:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.6FGFR3, FGFR1, FGFR2
2MP:00053828.1TWIST1, FGFR3, FGFR1, FGFR2
3MP:00053818.0FGFR2, FGFR1, FGFR3, TWIST1
4MP:00053907.8TWIST1, FGFR3, FGFR1, FGFR2

Publications for Plagiocephaly

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Genetic Variations for Plagiocephaly

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Expression for genes affiliated with Plagiocephaly

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

Search GEO for disease gene expression data for Plagiocephaly.

Pathways for genes affiliated with Plagiocephaly

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Sources:
51QIAGEN, 37NCBI BioSystems Database, 29KEGG, 53Reactome, 52R&D Systems, 4Cell Signaling Technology, 49PharmGKB, 12EMD Millipore, 59Tocris Bioscience
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Pathways related to Plagiocephaly according to GeneCards/GeneDecks:

(show all 41)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
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9.7FGFR2
2
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9.7FGFR2
39.4TWIST1, BGLAP
49.4FGFR3, FGFR1
5
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9.0FGFR1, FGFR2
6
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8.6FGFR3, FGFR1, FGFR2
7
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8.6FGFR2, FGFR1, FGFR3
88.6FGFR3, FGFR1, FGFR2
98.6FGFR2, FGFR1, FGFR3
10
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8.6FGFR2, FGFR1, FGFR3
11
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8.6FGFR2, FGFR1, FGFR3
128.6FGFR3, FGFR1, FGFR2
13
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8.6FGFR2, FGFR1, FGFR3
14
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8.6FGFR2, FGFR1, FGFR3
15
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8.6FGFR2, FGFR1, FGFR3
16
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8.6FGFR2, FGFR1, FGFR3
17
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8.6FGFR2, FGFR1, FGFR3
18
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8.6FGFR3, FGFR1, FGFR2
19
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8.6FGFR3, FGFR1, FGFR2
20
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8.6FGFR3, FGFR1, FGFR2
21
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8.6FGFR3, FGFR1, FGFR2
228.6FGFR2, FGFR1, FGFR3
238.6FGFR3, FGFR1, FGFR2
24
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8.6FGFR2, FGFR1, FGFR3
258.6FGFR3, FGFR1, FGFR2
26
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8.6FGFR3, FGFR1, FGFR2
27
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8.6FGFR2, FGFR1, FGFR3
288.6FGFR2, FGFR1, FGFR3
29
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8.6FGFR3, FGFR1, FGFR2
308.6FGFR3, FGFR1, FGFR2
31
Development FGF-family signaling
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8.6FGFR3, FGFR1, FGFR2
32
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8.6FGFR2, FGFR1, FGFR3
33
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8.6FGFR3, FGFR1, FGFR2
34
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8.6FGFR2, FGFR1, FGFR3
35
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8.6FGFR3, FGFR1, FGFR2
36
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8.6FGFR3, FGFR1, FGFR2
37
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8.6FGFR2, FGFR1, FGFR3
38
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8.6FGFR3, FGFR1, FGFR2
39
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8.6FGFR2, FGFR1, FGFR3
408.5BGLAP, FGFR2, FGFR1
418.1TWIST1, FGFR3, FGFR1, FGFR2

Compounds for genes affiliated with Plagiocephaly

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

(show all 26)
idCompoundScoreTop Affiliating Genes
1SU4984119.4FGFR1, FGFR2
2Regorafenib119.3FGFR2, FGFR1
3thalidomide44 49 59 1112.3FGFR3, FGFR2
4chondroitin sulfate44 2410.0FGFR1, FGFR2
5suramin44 28 1111.0FGFR1, FGFR2
6su 5402598.9FGFR3, FGFR2, FGFR1
7pd 161570598.9FGFR2, FGFR1, FGFR3
8fiin 1 hydrochloride598.9FGFR2, FGFR1, FGFR3
9su5402448.9FGFR2, FGFR1, FGFR3
10paraffin448.9FGFR3, FGFR2, BGLAP
11pd 17307444 599.9FGFR3, FGFR1, FGFR2
12palifermin44 119.9FGFR3, FGFR1, FGFR2
13Ponatinib 118.9FGFR2, FGFR1, FGFR3
14phenylalanine448.9FGFR2, FGFR1, FGFR3
15phosphotyrosine448.9FGFR3, FGFR1, FGFR2
16azathioprine44 49 2 1111.8FGFR2, BGLAP
17lysine448.8FGFR2, FGFR1, FGFR3
18paclitaxel44 49 1110.8TWIST1, FGFR1, FGFR2
19heparin44 28 11 2411.7BGLAP, FGFR2, FGFR1
20h2o2448.7FGFR1, FGFR2, BGLAP
21testosterone44 59 11 2411.6BGLAP, FGFR2, FGFR1
22oligonucleotide448.5FGFR2, FGFR1, FGFR3
23vegf448.4FGFR3, FGFR1, FGFR2, BGLAP
24cysteine448.3FGFR3, FGFR1, FGFR2, BGLAP
25serine448.3FGFR3, FGFR1, FGFR2, BGLAP
26tyrosine448.2FGFR2, FGFR1, FGFR3, TWIST1

GO Terms for genes affiliated with Plagiocephaly

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

idNameGO IDScoreTop Affiliating Genes
1cytoplasmic membrane-bounded vesicleGO:0160238.3FGFR3, FGFR1, FGFR2
2extracellular regionGO:0055768.1FGFR3, FGFR1, FGFR2, BGLAP

Biological processes related to Plagiocephaly according to GeneCards/GeneDecks:

(show all 43)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathwayGO:0900809.8FGFR3, FGFR1
2regulation of bone mineralizationGO:0305009.8TWIST1, BGLAP
3outer ear morphogenesisGO:0424739.7FGFR1, TWIST1
4chondrocyte differentiationGO:0020629.7FGFR1, FGFR3
5negative regulation of mitosisGO:0458399.6FGFR3, FGFR2
6lens fiber cell developmentGO:0703079.6FGFR2, FGFR3
7osteoblast differentiationGO:0016499.5BGLAP, TWIST1
8bone morphogenesisGO:0603499.5FGFR3, FGFR2
9fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:0356079.5FGFR1, FGFR2
10ventricular zone neuroblast divisionGO:0218479.5FGFR2, FGFR1
11embryonic cranial skeleton morphogenesisGO:0487019.4FGFR2, TWIST1
12mesenchymal cell differentiationGO:0487629.4FGFR1, FGFR2
13bone developmentGO:0603489.4FGFR2, BGLAP
14lung-associated mesenchyme developmentGO:0604849.4FGFR1, FGFR2
15odontogenesisGO:0424769.4FGFR2, BGLAP
16branching involved in salivary gland morphogenesisGO:0604459.4FGFR1, FGFR2
17MAPK cascadeGO:0001659.4FGFR3, FGFR1
18positive regulation of cardiac muscle cell proliferationGO:0600459.4FGFR1, FGFR2
19bone mineralizationGO:0302829.4FGFR2, BGLAP
20skeletal system morphogenesisGO:0487059.4FGFR2, FGFR1
21positive regulation of canonical Wnt receptor signaling pathwayGO:0902639.3FGFR3, FGFR2
22positive regulation of cell cycleGO:0457879.3FGFR2, FGFR1
23neuron migrationGO:0017649.3TWIST1, FGFR1
24midbrain developmentGO:0309019.3FGFR2, FGFR1
25skeletal system developmentGO:0015019.3FGFR3, FGFR1, BGLAP
26positive regulation of mesenchymal cell proliferationGO:0020539.3FGFR1, FGFR2
27ureteric bud developmentGO:0016579.2FGFR2, FGFR1
28inner ear morphogenesisGO:0424729.1FGFR1, FGFR2
29positive regulation of phospholipase activityGO:0105189.0FGFR3, FGFR1, FGFR2
30peptidyl-tyrosine phosphorylationGO:0181089.0FGFR2, FGFR1, FGFR3
31positive regulation of MAPK cascadeGO:0434109.0FGFR3, FGFR1, FGFR2
32phosphatidylinositol-mediated signalingGO:0480159.0FGFR2, FGFR1, FGFR3
33insulin receptor signaling pathwayGO:0082869.0FGFR2, FGFR1, FGFR3
34protein autophosphorylationGO:0467779.0FGFR3, FGFR1, FGFR2
35fibroblast growth factor receptor signaling pathwayGO:0085439.0FGFR2, FGFR1, FGFR3
36Fc-epsilon receptor signaling pathwayGO:0380958.9FGFR3, FGFR1, FGFR2
37epidermal growth factor receptor signaling pathwayGO:0071738.9FGFR2, FGFR1, FGFR3
38neurotrophin TRK receptor signaling pathwayGO:0480118.9FGFR2, FGFR1, FGFR3
39positive regulation of ERK1 and ERK2 cascadeGO:0703748.9FGFR3, FGFR2
40in utero embryonic developmentGO:0017018.9FGFR2, FGFR1, TWIST1
41positive regulation of cell proliferationGO:0082848.8FGFR3, FGFR1, FGFR2
42innate immune responseGO:0450878.5FGFR2, FGFR1, FGFR3
43negative regulation of transcription from RNA polymerase II promoterGO:0001228.5FGFR2, FGFR1, FGFR3, TWIST1

Molecular functions related to Plagiocephaly according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1fibroblast growth factor-activated receptor activityGO:0050078.6FGFR3, FGFR1, FGFR2
2protein homodimerization activityGO:0428038.5TWIST1, FGFR1, FGFR2
3fibroblast growth factor bindingGO:0171348.5FGFR3, FGFR1, FGFR2
4protein tyrosine kinase activityGO:0047138.3FGFR2, FGFR1, FGFR3

Products for genes affiliated with Plagiocephaly

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  • Antibodies
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Sources for Plagiocephaly

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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