MCID: PLG004
MIFTS: 46

Plagiocephaly malady

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Summaries for Plagiocephaly

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Wikipedia:65 Plagiocephaly, also known as flat head syndrome, is a condition characterized by an asymmetrical... more...

MalaCards based summary: Plagiocephaly is related to strabismus and synostosis. An important gene associated with Plagiocephaly is TWIST1 (twist family bHLH transcription factor 1), and among its related pathways are Notch-mediated HES/HEY network and Endochondral Ossification. The compounds thalidomide and azathioprine have been mentioned in the context of this disorder. Affiliated tissues include brain, bone and eye, and related mouse phenotypes are renal/urinary system and hearing/vestibular/ear.

Aliases & Classifications for Plagiocephaly

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Related Diseases for Plagiocephaly

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

(show top 50)    (show all 82)
idRelated DiseaseScoreTop Affiliating Genes
1strabismus30.7FGFR3, FGFR2
2synostosis30.4FGFR3, FGFR1, TWIST1, FGFR2
3craniosynostosis30.1TWIST1, FGFR3, FGFR2, FGFR1
4muenke syndrome29.4FGFR1, FGFR2, TWIST1, FGFR3
5lambdoid synostosis10.4
6beare-stevenson cutis gyrata syndrome10.4FGFR2
7antley-bixler syndrome10.4FGFR2
8osteochondroma10.4FGFR3
9craniosynostosis 310.3
10osteoglophonic dysplasia10.3FGFR1
11x-linked intellectual disability - plagiocephaly10.3
12achondroplasia10.2FGFR3, FGFR2
13plagiocephaly and x-linked mental retardation10.2
14ladd syndrome10.2FGFR3, FGFR2
15thanatophoric dysplasia10.2FGFR2, FGFR3
16acanthosis nigricans10.2FGFR3, FGFR2
17syndactyly10.2FGFR2, FGFR3
18giant cell tumor10.1BGLAP, FGFR3
19osteogenesis imperfecta10.1BGLAP, FGFR3
20craniosynostosis 410.1
21transitional cell carcinoma10.1FGFR3, FGFR2
22short stature10.1BGLAP, FGFR3
23bladder carcinoma10.1FGFR2, FGFR3
24infectious mononucleosis10.1FGFR2, FGFR1
25thyroid hurthle cell carcinoma10.0FGFR2, BGLAP
26nasopharynx carcinoma10.0FGFR1, TWIST1
27skin disease10.0FGFR3, FGFR2
28hypogonadism10.0FGFR1, BGLAP
29hemangioma10.0
30craniofrontonasal syndrome10.0
31sudden infant death syndrome10.0
32aicardi syndrome10.0
33cervicitis10.0
34dysostosis10.0
35otitis media10.0
36refractive error10.0
3749, xxxxx10.0
38anophthalmia megalocornea cardiopathy skeletal anomalies10.0
39chromosome 20p duplication10.0
40chromosome 6q25 microdeletion syndrome10.0
41faciocardiorenal syndrome10.0
42fibrochondrogenesis10.0
43fine-lubinsky syndrome10.0
44genoa syndrome10.0
45malignant hyperthermia arthrogryposis torticollis10.0
46microgastria limb reduction defect10.0
47microhydranencephaly10.0
48neurofaciodigitorenal syndrome10.0
49polydactyly postaxial dental and vertebral10.0
50primrose syndrome10.0

Graphical network of the top 20 diseases related to Plagiocephaly:



Diseases related to plagiocephaly

Symptoms for Plagiocephaly

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Drugs & Therapeutics for Plagiocephaly

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Drug clinical trials:

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Search NIH Clinical Center for Plagiocephaly

Genetic Tests for Plagiocephaly

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Anatomical Context for Plagiocephaly

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MalaCards organs/tissues related to Plagiocephaly:

32
Brain, Bone, Eye, Heart, Testes

Animal Models for Plagiocephaly or affiliated genes

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MGI Mouse Phenotypes related to Plagiocephaly:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053679.4FGFR3, FGFR2
2MP:00053778.7FGFR3, FGFR1, FGFR2
3MP:00053718.4TWIST1, FGFR2, FGFR1, FGFR3
4MP:00053828.4TWIST1, FGFR1, FGFR2, FGFR3
5MP:00053818.3FGFR1, FGFR3, TWIST1, FGFR2
6MP:00053908.3FGFR3, FGFR2, TWIST1, FGFR1
7MP:00053868.2FGFR2, TWIST1, FGFR1, FGFR3
8MP:00053848.2TWIST1, FGFR2, FGFR3, FGFR1
9MP:00036318.1FGFR3, FGFR1, FGFR2, TWIST1
10MP:00053787.9FGFR3, FGFR1, TWIST1, FGFR2

Publications for Plagiocephaly

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Articles related to Plagiocephaly:

(show top 50)    (show all 300)
idTitleAuthorsYear
1
Isolated frontosphenoidal synostosis: a rare cause of synostotic frontal plagiocephaly. (24606403)
2014
2
Congenital muscular torticollis and positional plagiocephaly. (24488831)
2014
3
A complicated case of plagiocephaly followed by delayed craniosynostosis. (23595804)
2013
4
Orthotic (helmet) therapy in the treatment of plagiocephaly. (24079781)
2013
5
A modified approach to surgical correction of anterior plagiocephaly. (23997494)
2012
6
Prevalence of positional plagiocephaly in teens born after the "Back to Sleep" campaign. (22241785)
2012
7
Craniosynostosis and deformational plagiocephaly: when and how to intervene. (22866500)
2012
8
Head orthesis therapy in infants with unilateral positional plagiocephaly: an interdisciplinary approach to broadening the range of orthodontic treatment. (22388713)
2012
9
Increased incidence of metopic suture abnormalities in children with positional plagiocephaly. (21187772)
2011
10
Investigation into an increase in plagiocephaly in Texas from 1999 to 2007. (21464373)
2011
11
Exploring the impact of osteopathic treatment on cranial asymmetries associated with nonsynostotic plagiocephaly in infants. (21982132)
2011
12
Severe deformational plagiocephaly: long-term results of surgical treatment. (21187754)
2011
13
Development in toddlers with and without deformational plagiocephaly. (21727278)
2011
14
Prevalence, risk factors, and natural history of positional plagiocephaly: a systematic review. (18754894)
2008
15
Plagiocephaly, brachycephaly and cranial orthotic devices: misshapen heads and helmets. (18719162)
2008
16
Plagiocephaly and awareness, prevention and treatment. (18497228)
2008
17
Comparison of a modifiable cranial cup versus repositioning and cervical stretching for the early correction of deformational posterior plagiocephaly. (18317143)
2008
18
The misdiagnosis of craniosynostosis as deformational plagiocephaly. (18216678)
2008
19
Frontosphenoidal synostosis: a rare cause of unilateral anterior plagiocephaly. (17891404)
2007
20
Diagnostic value of skull x rays in infants with plagiocephaly. (17119094)
2006
21
Variable co-diagnosis of plagiocephaly and torticollis in Texas health care facilities. (16633168)
2006
22
Comparison of infant head shape changes in deformational plagiocephaly following treatment with a cranial remolding orthosis using a noninvasive laser shape digitizer. (17119410)
2006
23
Cranial distraction for plagiocephaly: quantitative morphologic analyses of cranium using three-dimensional computed tomography and a life-size model. (16077318)
2005
24
Conservative interventions for positional plagiocephaly: a systematic review. (16108460)
2005
25
Neurodevelopmental implications of "deformational" plagiocephaly. (16222180)
2005
26
Molding helmet therapy in the treatment of brachycephaly and plagiocephaly. (14704577)
2004
27
Plagiocephaly and brachycephaly in the first two years of life: a prospective cohort study. (15466093)
2004
28
Objective outcome analysis of soft shell helmet therapy in the treatment of deformational plagiocephaly. (15213546)
2004
29
Bipartite parietal bone: a rare cause of plagiocephaly. (15230767)
2004
30
Plagiocephaly: morphometry of skull base asymmetry. (14504821)
2003
31
Plagiocephaly--more questions than answers. (14581963)
2003
32
Determinants of nonsynostotic plagiocephaly: a case-control study. (14523218)
2003
33
Deformational posterior plagiocephaly: diagnosis and treatment. (12401104)
2002
34
Study of asymmetries of the cranial vault in plagiocephaly. (12218795)
2002
35
Ocular plagiocephaly: Author's reply (11097572)
2000
36
Update on craniofacial surgery: the differential diagnosis of lambdoid synostosis/posterior plagiocephaly. (11197708)
2000
37
Sternocleidomastoid imbalance versus congenital muscular torticollis: their relationship to positional plagiocephaly. (10342615)
1999
38
Positional plagiocephaly: a community approach to prevention and treatment. (10602685)
1999
39
Pediatric management problems. Plagiocephaly. (9555451)
1998
40
Etiology of positional plagiocephaly in triplets and treatment using a dynamic orthotic cranioplasty device. Report of three cases. (15096018)
1997
41
Occipital plagiocephaly: an epidemic of craniosynostosis? (9314744)
1997
42
Diagnosis and management of posterior plagiocephaly. (9024443)
1997
43
A novel mutation (a886g) in exon 5 of FGFR2 in members of a family with Crouzon phenotype and plagiocephaly. (9152842)
1997
44
A prospective study of the relationship between strabismus and head posture in patients with frontal plagiocephaly. (8618990)
1996
45
Clinical presentation and management of 100 infants with occipital plagiocephaly. (9055327)
1996
46
Occipital plagiocephaly: deformation or lambdoid synostosis? II. A unifying theory regarding pathogenesis. (8841076)
1996
47
Refractive error and ocular motility in plagiocephaly. (7923229)
1994
48
Ocular manifestations of deformational frontal plagiocephaly. (8501624)
1993
49
Orbital expansion in plagiocephaly. (3345403)
1988
50
Helmet treatment for plagiocephaly and congenital muscular torticollis. (758420)
1979

Variations for Plagiocephaly

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Expression for genes affiliated with Plagiocephaly

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Expression patterns in normal tissues for genes affiliated with Plagiocephaly

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Pathways for genes affiliated with Plagiocephaly

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Pathways related to Plagiocephaly according to GeneCards/GeneDecks:

(show all 44)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.4TWIST1, BGLAP
29.1FGFR3, FGFR1
3
Show member pathways
9.1FGFR3, FGFR1
4
Show member pathways
8.6FGFR2, FGFR1, FGFR3
5
Show member pathways
8.6FGFR2, FGFR1, FGFR3
6
Show member pathways
8.6FGFR2, FGFR1, FGFR3
7
Show member pathways
8.6FGFR3, FGFR1, FGFR2
88.6FGFR2, FGFR1, FGFR3
9
Show member pathways
8.6FGFR3, FGFR1, FGFR2
108.6FGFR2, FGFR1, FGFR3
11
Show member pathways
8.6FGFR3, FGFR1, FGFR2
12
Show member pathways
8.6FGFR3, FGFR1, FGFR2
13
Show member pathways
8.6FGFR3, FGFR1, FGFR2
14
Show member pathways
8.6FGFR2, FGFR1, FGFR3
15
Show member pathways
8.6FGFR3, FGFR1, FGFR2
168.6FGFR3, FGFR1, FGFR2
17
Show member pathways
8.6FGFR3, FGFR1, FGFR2
18
Show member pathways
8.6FGFR2, FGFR1, FGFR3
19
Show member pathways
8.6FGFR2, FGFR1, FGFR3
20
Show member pathways
8.6FGFR3, FGFR1, FGFR2
21
Show member pathways
8.6FGFR3, FGFR1, FGFR2
22
Show member pathways
8.6FGFR3, FGFR1, FGFR2
23
Show member pathways
8.6FGFR2, FGFR1, FGFR3
248.6FGFR3, FGFR1, FGFR2
258.6FGFR2, FGFR1, FGFR3
268.6FGFR3, FGFR1, FGFR2
27
Show member pathways
8.6FGFR2, FGFR1, FGFR3
28
Show member pathways
8.6FGFR3, FGFR1, FGFR2
29
Show member pathways
8.6FGFR2, FGFR1, FGFR3
308.6FGFR3, FGFR1, FGFR2
31
Show member pathways
8.6FGFR2, FGFR1, FGFR3
32
Show member pathways
8.6FGFR3, FGFR1, FGFR2
33
Show member pathways
8.6FGFR3, FGFR1, FGFR2
34
Show member pathways
8.6FGFR3, FGFR1, FGFR2
35
Show member pathways
8.6FGFR3, FGFR1, FGFR2
36
Show member pathways
8.6FGFR2, FGFR1, FGFR3
37
Show member pathways
MAPK signaling pathway37
8.6FGFR3, FGFR1, FGFR2
38
Show member pathways
8.6FGFR3, FGFR1, FGFR2
39
Show member pathways
8.6FGFR3, FGFR1, FGFR2
40
Show member pathways
8.6FGFR2, FGFR1, FGFR3
41
Show member pathways
8.6FGFR3, FGFR1, FGFR2
42
Show member pathways
Signaling Pathways in Glioblastoma37
8.6FGFR2, FGFR1, FGFR3
438.5FGFR1, FGFR2, BGLAP
448.2FGFR3, FGFR1, FGFR2, TWIST1

Compounds for genes affiliated with Plagiocephaly

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Compounds related to Plagiocephaly according to GeneCards/GeneDecks:

(show all 36)
idCompoundScoreTop Affiliating Genes
1thalidomide44 50 61 1112.7FGFR3, FGFR2
2azathioprine44 2 50 1112.5FGFR2, BGLAP
3sulfate44 2410.5FGFR2, FGFR3
4pazopanib50 1110.5FGFR3, FGFR1
5regorafenib50 1110.5FGFR2, FGFR1
6chondroitin sulfate44 2410.4FGFR1, FGFR2
7suramin44 28 1111.3FGFR2, FGFR1
8paraffin449.2FGFR3, BGLAP, FGFR2
9bromodeoxyuridine449.1FGFR2, FGFR1
10heparan sulfate44 2410.1FGFR1, FGFR2
11arginine449.0FGFR3, FGFR2, BGLAP
12paclitaxel44 50 1111.0TWIST1, FGFR1, FGFR2
13pd 161570619.0FGFR3, FGFR1, FGFR2
14su 5402619.0FGFR2, FGFR1, FGFR3
15fiin 1 hydrochloride619.0FGFR3, FGFR1, FGFR2
16su5402449.0FGFR3, FGFR1, FGFR2
17pd 17307444 6110.0FGFR1, FGFR2, FGFR3
18palifermin44 1110.0FGFR2, FGFR3, FGFR1
19ponatinib50 1110.0FGFR1, FGFR3, FGFR2
20phenylalanine449.0FGFR2, FGFR1, FGFR3
21phosphotyrosine449.0FGFR1, FGFR3, FGFR2
22lysine448.9FGFR3, FGFR1, FGFR2
23oligonucleotide448.9FGFR1, FGFR3, FGFR2
24imatinib44 50 1110.8FGFR3, FGFR1
25heparin44 28 24 1111.8FGFR2, BGLAP, FGFR1
26h2o2448.8FGFR1, BGLAP, FGFR2
27testosterone44 61 24 1111.8FGFR2, FGFR1, BGLAP
28threonine448.8FGFR1, FGFR2, FGFR3
29glutamate448.7FGFR2, FGFR1, FGFR3
30tyrosine448.5FGFR2, TWIST1, FGFR1, FGFR3
31estrogen448.4BGLAP, TWIST1, FGFR2, FGFR1
32retinoic acid44 249.4FGFR1, BGLAP, FGFR2
33vegf448.4FGFR2, FGFR3, BGLAP, FGFR1
34cysteine448.4BGLAP, FGFR2, FGFR1, FGFR3
35serine448.3FGFR3, BGLAP, FGFR1, FGFR2
36calcium44 50 24 1111.3BGLAP, FGFR2, FGFR1, FGFR3

GO Terms for genes affiliated with Plagiocephaly

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Cellular components related to Plagiocephaly according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1integral component of plasma membraneGO:0058878.6FGFR3, FGFR2, FGFR1
2cytoplasmic membrane-bounded vesicleGO:0160238.5FGFR2, FGFR1, FGFR3
3extracellular regionGO:0055767.7FGFR3, BGLAP, FGFR2, FGFR1

Biological processes related to Plagiocephaly according to GeneCards/GeneDecks:

(show all 46)
idNameGO IDScoreTop Affiliating Genes
1lens fiber cell developmentGO:0703079.8FGFR2, FGFR3
2negative regulation of mitosisGO:0458399.8FGFR3, FGFR2
3embryonic cranial skeleton morphogenesisGO:0487019.8TWIST1, FGFR2
4bone morphogenesisGO:0603499.8FGFR3, FGFR2
5regulation of bone mineralizationGO:0305009.8TWIST1, BGLAP
6bone mineralizationGO:0302829.6BGLAP, FGFR2
7negative regulation of epithelial cell proliferationGO:0506809.6FGFR3, FGFR2
8bone developmentGO:0603489.6FGFR2, BGLAP
9cellular response to growth factor stimulusGO:0713639.6BGLAP, TWIST1
10outer ear morphogenesisGO:0424739.6TWIST1, FGFR1
11positive regulation of canonical Wnt signaling pathwayGO:0902639.6FGFR2, FGFR3
12osteoblast differentiationGO:0016499.6TWIST1, BGLAP
13fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:0356079.6FGFR2, FGFR1
14ventricular zone neuroblast divisionGO:0218479.6FGFR1, FGFR2
15positive regulation of epithelial cell proliferationGO:0506799.6FGFR2, TWIST1
16positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathwayGO:0900809.6FGFR1, FGFR3
17mesenchymal cell differentiationGO:0487629.5FGFR2, FGFR1
18lung-associated mesenchyme developmentGO:0604849.5FGFR1, FGFR2
19branching involved in salivary gland morphogenesisGO:0604459.5FGFR1, FGFR2
20positive regulation of cardiac muscle cell proliferationGO:0600459.5FGFR2, FGFR1
21skeletal system morphogenesisGO:0487059.5FGFR2, FGFR1
22positive regulation of cell cycleGO:0457879.5FGFR1, FGFR2
23midbrain developmentGO:0309019.4FGFR2, FGFR1
24positive regulation of mesenchymal cell proliferationGO:0020539.4FGFR1, FGFR2
25chondrocyte differentiationGO:0020629.4FGFR1, FGFR3
26ureteric bud developmentGO:0016579.4FGFR1, FGFR2
27odontogenesisGO:0424769.3FGFR2, TWIST1, BGLAP
28inner ear morphogenesisGO:0424729.2FGFR1, FGFR2
29neuron migrationGO:0017649.2FGFR1, TWIST1
30MAPK cascadeGO:0001659.1FGFR3, FGFR1
31positive regulation of ERK1 and ERK2 cascadeGO:0703749.1FGFR3, FGFR2
32positive regulation of phospholipase activityGO:0105189.1FGFR3, FGFR1, FGFR2
33positive regulation of MAPK cascadeGO:0434109.0FGFR3, FGFR1, FGFR2
34in utero embryonic developmentGO:0017019.0FGFR1, FGFR2, TWIST1
35peptidyl-tyrosine phosphorylationGO:0181089.0FGFR2, FGFR1, FGFR3
36phosphatidylinositol-mediated signalingGO:0480159.0FGFR3, FGFR1, FGFR2
37insulin receptor signaling pathwayGO:0082869.0FGFR3, FGFR1, FGFR2
38protein autophosphorylationGO:0467779.0FGFR2, FGFR1, FGFR3
39fibroblast growth factor receptor signaling pathwayGO:0085439.0FGFR3, FGFR1, FGFR2
40Fc-epsilon receptor signaling pathwayGO:0380959.0FGFR2, FGFR1, FGFR3
41epidermal growth factor receptor signaling pathwayGO:0071739.0FGFR2, FGFR1, FGFR3
42neurotrophin TRK receptor signaling pathwayGO:0480119.0FGFR3, FGFR1, FGFR2
43skeletal system developmentGO:0015018.9FGFR3, FGFR1, BGLAP
44positive regulation of cell proliferationGO:0082848.8FGFR3, FGFR1, FGFR2
45negative regulation of transcription from RNA polymerase II promoterGO:0001228.6FGFR3, FGFR1, FGFR2, TWIST1
46innate immune responseGO:0450878.5FGFR2, FGFR1, FGFR3

Molecular functions related to Plagiocephaly according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1heparin bindingGO:0082019.1FGFR1, FGFR2
2fibroblast growth factor-activated receptor activityGO:0050078.7FGFR3, FGFR1, FGFR2
3fibroblast growth factor bindingGO:0171348.6FGFR3, FGFR1, FGFR2
4protein tyrosine kinase activityGO:0047138.5FGFR2, FGFR1, FGFR3
5protein homodimerization activityGO:0428038.4FGFR1, FGFR2, TWIST1

Products for genes affiliated with Plagiocephaly

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet