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:
30ICD10 via Orphanet, 53Orphanet, 67UMLS
See all MalaCards sources

Aliases & Descriptions for Isolated Plagiocephaly:

Name: Isolated Plagiocephaly 53
Non-Syndromic Unicoronal Synostosis 53
 
Synostotic Plagiocephaly 53
Craniosynostosis 67

Characteristics:

Orphanet epidemiological data:

53
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:

Orphanet53 ORPHA35098
ICD10 via Orphanet30 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 plasmalogens synthesis deficiency isolated, and has symptoms including facial asymmetry, plagiocephaly and frontal bossing. An important gene associated with Isolated Plagiocephaly is ZIC1 (Zic Family Member 1), 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 for Isolated Plagiocephaly

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Human phenotypes related to Isolated Plagiocephaly:

 63 53 (show all 13)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 facial asymmetry63 53 hallmark (90%) Very frequent (99-80%) HP:0000324
2 plagiocephaly63 53 hallmark (90%) Very frequent (99-80%) HP:0001357
3 frontal bossing63 53 hallmark (90%) Very frequent (99-80%) HP:0002007
4 strabismus63 53 typical (50%) Frequent (79-30%) HP:0000486
5 visual field defect63 53 typical (50%) Frequent (79-30%) HP:0001123
6 macrocephaly63 53 occasional (7.5%) Occasional (29-5%) HP:0000256
7 malar flattening63 occasional (7.5%) HP:0000272
8 hearing impairment63 53 occasional (7.5%) Occasional (29-5%) HP:0000365
9 cognitive impairment63 occasional (7.5%) HP:0100543
10 abnormality of eye movement53 Frequent (79-30%)
11 intellectual disability53 Occasional (29-5%)
12 global developmental delay53 Occasional (29-5%)
13 midface retrusion53 Occasional (29-5%)

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:

35
Eye, Bone

Animal Models for Isolated Plagiocephaly or affiliated genes

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MGI Mouse Phenotypes related to Isolated Plagiocephaly:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053868.8FGFR3, TCF12, TWIST1, ZIC1
2MP:00053788.8FGFR3, TCF12, TWIST1, ZIC1
3MP:00036318.0FGFR3, TCF12, TWIST1, ZIC1

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
18.8FGFR3, 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:00075178.9TCF12, TWIST1
2positive 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:00434259.6TCF12, TWIST1
2E-box bindingGO:00708889.5TCF12, TWIST1
3transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific bindingGO:00010779.4TCF12, ZIC1
4transcription factor activity, sequence-specific DNA bindingGO:00037008.5TCF12, TWIST1, ZIC1

Sources for Isolated Plagiocephaly

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet