MCID: ISL062
MIFTS: 32

Isolated Plagiocephaly

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

Aliases & Classifications for Isolated Plagiocephaly

MalaCards integrated aliases for Isolated Plagiocephaly:

Name: Isolated Plagiocephaly 55
Non-Syndromic Unicoronal Synostosis 55
Synostotic Plagiocephaly 55
Craniosynostosis 69

Characteristics:

Orphanet epidemiological data:

55
isolated plagiocephaly
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/100000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

Classifications:



Summaries for Isolated Plagiocephaly

MalaCards based summary : Isolated Plagiocephaly, also known as non-syndromic unicoronal synostosis, is related to plagiocephaly and torticollis, and has symptoms including macrocephaly, facial asymmetry and hearing impairment. An important gene associated with Isolated Plagiocephaly is ZIC1 (Zic Family Member 1), and among its related pathways/superpathways is Neural Crest Differentiation. Affiliated tissues include eye and bone, and related phenotypes are behavior/neurological and growth/size/body region

Related Diseases for Isolated Plagiocephaly

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

(show all 11)
# Related Disease Score Top Affiliating Genes
1 plagiocephaly 30.6 FGFR3 TWIST1
2 torticollis 10.1
3 apert syndrome 9.8 FGFR3 TWIST1
4 muenke syndrome 9.8 FGFR3 TWIST1
5 bone development disease 9.8 FGFR3 TWIST1
6 saethre-chotzen syndrome 9.7 FGFR3 TWIST1
7 pfeiffer syndrome 9.7 FGFR3 TWIST1
8 gliosarcoma 9.5 FGFR3 TWIST1
9 synostosis 9.3 FGFR3 TCF12 TWIST1
10 isolated brachycephaly 8.9 FGFR3 TCF12 TWIST1 ZIC1
11 craniosynostosis 8.9 FGFR3 TCF12 TWIST1 ZIC1

Graphical network of the top 20 diseases related to Isolated Plagiocephaly:



Diseases related to Isolated Plagiocephaly

Symptoms & Phenotypes for Isolated Plagiocephaly

Human phenotypes related to Isolated Plagiocephaly:

55 31 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0000256
2 facial asymmetry 55 31 hallmark (90%) Very frequent (99-80%) HP:0000324
3 hearing impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0000365
4 strabismus 55 31 frequent (33%) Frequent (79-30%) HP:0000486
5 visual field defect 55 31 frequent (33%) Frequent (79-30%) HP:0001123
6 intellectual disability 55 31 occasional (7.5%) Occasional (29-5%) HP:0001249
7 global developmental delay 55 31 occasional (7.5%) Occasional (29-5%) HP:0001263
8 plagiocephaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0001357
9 frontal bossing 55 31 hallmark (90%) Very frequent (99-80%) HP:0002007
10 midface retrusion 55 31 occasional (7.5%) Occasional (29-5%) HP:0011800
11 abnormality of eye movement 55 Frequent (79-30%)

MGI Mouse Phenotypes related to Isolated Plagiocephaly:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.46 FGFR3 TCF12 TWIST1 ZIC1
2 growth/size/body region MP:0005378 9.26 FGFR3 TCF12 TWIST1 ZIC1
3 nervous system MP:0003631 8.92 FGFR3 TCF12 TWIST1 ZIC1

Drugs & Therapeutics for Isolated Plagiocephaly

Search Clinical Trials , NIH Clinical Center for Isolated Plagiocephaly

Genetic Tests for Isolated Plagiocephaly

Anatomical Context for Isolated Plagiocephaly

MalaCards organs/tissues related to Isolated Plagiocephaly:

38
Eye, Bone

Publications for Isolated Plagiocephaly

Articles related to Isolated Plagiocephaly:

# Title Authors Year
1
Quantitative analysis of craniofacial dysmorphology in infants with anterior synostotic plagiocephaly. ( 27541866 )
2016
2
Unicoronal synostotic plagiocephaly: surgical correction: Lille's technique. ( 22872260 )
2012
3
Correlations between the abnormal development of the skull base and facial skeleton growth in anterior synostotic plagiocephaly: the predictive value of a classification based on CT scan examination. ( 21720819 )
2011
4
Nasal and ethmoidal alterations in anterior synostotic plagiocephaly. ( 21403535 )
2011
5
Synostotic plagiocephaly causing pseudoparalysis of the superior oblique and ocular torticollis: report of a case with unique sensory findings. ( 9852441 )
1998
6
Operative treatment of the anterior synostotic plagiocephaly: analysis of 45 cases. ( 9808253 )
1998

Variations for Isolated Plagiocephaly

Expression for Isolated Plagiocephaly

Search GEO for disease gene expression data for Isolated Plagiocephaly.

Pathways for Isolated Plagiocephaly

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

# Super pathways Score Top Affiliating Genes
1 10.81 FGFR3 TWIST1 ZIC1

GO Terms for Isolated Plagiocephaly

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

# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.43 TCF12 TWIST1 ZIC1
2 positive regulation of transcription by RNA polymerase II GO:0045944 9.33 TCF12 TWIST1 ZIC1
3 cell differentiation GO:0030154 9.13 TCF12 TWIST1 ZIC1
4 muscle organ development GO:0007517 8.62 TCF12 TWIST1

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding transcription factor activity GO:0003700 9.33 TCF12 TWIST1 ZIC1
2 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding GO:0001077 9.32 TCF12 ZIC1
3 protein dimerization activity GO:0046983 9.26 TCF12 TWIST1
4 E-box binding GO:0070888 8.96 TCF12 TWIST1
5 bHLH transcription factor binding GO:0043425 8.62 TCF12 TWIST1

Sources for Isolated Plagiocephaly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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