MCID: ISL062
MIFTS: 20

Isolated Plagiocephaly malady

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

Aliases & Classifications for Isolated Plagiocephaly

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Sources:
52Orphanet, 29ICD10 via Orphanet
See all MalaCards sources

Aliases & Descriptions for Isolated Plagiocephaly:

Name: Isolated Plagiocephaly 52
Non-Syndromic Unicoronal Synostosis 52
 
Synostotic Plagiocephaly 52

Characteristics:

Orphanet epidemiological data:

52
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:

Orphanet52 ORPHA35098
ICD10 via Orphanet29 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 hypertrophic cardiomyopathy, and has symptoms including facial asymmetry, plagiocephaly and frontal bossing. 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.

Related Diseases for Isolated Plagiocephaly

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Diseases related to Isolated Plagiocephaly via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1plagiocephaly10.6
2hypertrophic cardiomyopathy9.7FGFR3, TCF12
3staphylococcal necrotizing pneumonia8.9FGFR3, TCF12, ZIC1
4staphylococcal scarlet fever8.8FGFR3, TCF12, ZIC1
5crohn's disease8.6FGFR3, TCF12, ZIC1

Graphical network of diseases related to Isolated Plagiocephaly:



Diseases related to isolated plagiocephaly

Symptoms for Isolated Plagiocephaly

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Symptoms:

 52 (show all 11)
  • macrocephaly
  • facial asymmetry
  • hearing impairment
  • strabismus
  • abnormality of eye movement
  • visual field defect
  • intellectual disability
  • global developmental delay
  • plagiocephaly
  • frontal bossing
  • midface retrusion

HPO human phenotypes related to Isolated Plagiocephaly:

(show all 9)
id Description Frequency HPO Source Accession
1 facial asymmetry hallmark (90%) HP:0000324
2 plagiocephaly hallmark (90%) HP:0001357
3 frontal bossing hallmark (90%) HP:0002007
4 strabismus typical (50%) HP:0000486
5 visual field defect typical (50%) HP:0001123
6 macrocephaly occasional (7.5%) HP:0000256
7 malar flattening occasional (7.5%) HP:0000272
8 hearing impairment occasional (7.5%) HP:0000365
9 cognitive impairment occasional (7.5%) HP:0100543

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:

34
Eye, Bone

Animal Models for Isolated Plagiocephaly or affiliated genes

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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
19.0FGFR3, 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
1transcription from RNA polymerase II promoterGO:00063669.1TCF12, ZIC1

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

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II core promoter proximal region sequence-specific DNA bindingGO:00009789.1TCF12, ZIC1
2transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific bindingGO:00010778.8TCF12, ZIC1

Sources for Isolated Plagiocephaly

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet