MCID: ISL062
MIFTS: 24

Isolated Plagiocephaly malady

Categories: Eye diseases, Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Isolated Plagiocephaly

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Sources:
31ICD10 via Orphanet, 54Orphanet, 68UMLS
See all MalaCards sources

Aliases & Descriptions for Isolated Plagiocephaly:

Name: Isolated Plagiocephaly 54
Non-Syndromic Unicoronal Synostosis 54
 
Synostotic Plagiocephaly 54
Craniosynostosis 68

Characteristics:

Orphanet epidemiological data:

54
non-syndromic unicoronal synostosis:
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/100000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy

Classifications:



External Ids:

Orphanet54 ORPHA35098
ICD10 via Orphanet31 Q67.3

Summaries for Isolated Plagiocephaly

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MalaCards based summary: Isolated Plagiocephaly, also known as non-syndromic unicoronal synostosis, is related to plagiocephaly and scaphocephaly, maxillary retrusion, and mental retardation, and has symptoms including Array, Array and Array. An important gene associated with Isolated Plagiocephaly is FGFR3 (Fibroblast Growth Factor Receptor 3), and among its related pathways is Neural Crest Differentiation. Affiliated tissues include eye and bone, and related mouse phenotypes are behavior/neurological and growth/size/body region.

Related Diseases for Isolated Plagiocephaly

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Graphical network of diseases related to Isolated Plagiocephaly:



Diseases related to isolated plagiocephaly

Symptoms & Phenotypes for Isolated Plagiocephaly

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Human phenotypes related to Isolated Plagiocephaly:

 54 64 (show all 11)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly64 54 Occasional (29-5%) HP:0000256
2 facial asymmetry64 54 Very frequent (99-80%) HP:0000324
3 hearing impairment64 54 Occasional (29-5%) HP:0000365
4 strabismus64 54 Frequent (79-30%) HP:0000486
5 abnormality of eye movement54 Frequent (79-30%)
6 visual field defect64 54 Frequent (79-30%) HP:0001123
7 intellectual disability64 54 Occasional (29-5%) HP:0001249
8 global developmental delay64 54 Occasional (29-5%) HP:0001263
9 plagiocephaly64 54 Very frequent (99-80%) HP:0001357
10 frontal bossing64 54 Very frequent (99-80%) HP:0002007
11 midface retrusion64 54 Occasional (29-5%) HP:0011800

MGI Mouse Phenotypes related to Isolated Plagiocephaly according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053868.8FGFR3, TCF12, TWIST1, ZIC1
2MP:00053788.8FGFR3, TCF12, TWIST1, ZIC1
3MP:00036318.0FGFR3, TCF12, TWIST1, ZIC1

Drugs & Therapeutics for Isolated Plagiocephaly

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Isolated Plagiocephaly

Genetic Tests for Isolated Plagiocephaly

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Anatomical Context for Isolated Plagiocephaly

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MalaCards organs/tissues related to Isolated Plagiocephaly:

36
Eye, Bone

Publications for Isolated Plagiocephaly

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Variations for Isolated Plagiocephaly

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Expression for genes affiliated with Isolated Plagiocephaly

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Search GEO for disease gene expression data for Isolated Plagiocephaly.

Pathways for genes affiliated with Isolated Plagiocephaly

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Pathways related to Isolated Plagiocephaly according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
18.6FGFR3, TWIST1, ZIC1

GO Terms for genes affiliated with Isolated Plagiocephaly

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Biological processes related to Isolated Plagiocephaly according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1muscle organ developmentGO:00075179.7TCF12, TWIST1
2cell differentiationGO:00301549.3TCF12, TWIST1, ZIC1
3multicellular organism developmentGO:00072759.2TCF12, TWIST1, ZIC1
4positive regulation of transcription from RNA polymerase II promoterGO:00459448.5TCF12, TWIST1, ZIC1

Molecular functions related to Isolated Plagiocephaly according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1bHLH transcription factor bindingGO:00434259.8TCF12, TWIST1
2E-box bindingGO:00708889.8TCF12, TWIST1
3protein dimerization activityGO:00469839.7TCF12, TWIST1
4transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific bindingGO:00010779.3TCF12, ZIC1
5transcription factor activity, sequence-specific DNA bindingGO:00037009.1TCF12, TWIST1, ZIC1

Sources for Isolated Plagiocephaly

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet