MCID: ISL062
MIFTS: 32

Isolated Plagiocephaly

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

Aliases & Classifications for Isolated Plagiocephaly

MalaCards integrated aliases for Isolated Plagiocephaly:

Name: Isolated Plagiocephaly 60
Non-Syndromic Unicoronal Synostosis 60
Synostotic Plagiocephaly 60
Craniosynostosis 74

Characteristics:

Orphanet epidemiological data:

60
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. An important gene associated with Isolated Plagiocephaly is TWIST1 (Twist Family BHLH Transcription Factor 1), and among its related pathways/superpathways is Neural Crest Differentiation. Affiliated tissues include eye and bone, and related phenotypes are frontal bossing and facial asymmetry

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 31.1 FGFR3 TWIST1
2 torticollis 10.3
3 apert syndrome 9.9 FGFR3 TWIST1
4 muenke syndrome 9.9 FGFR3 TWIST1
5 saethre-chotzen syndrome 9.9 FGFR3 TWIST1
6 pfeiffer syndrome 9.8 FGFR3 TWIST1
7 gliosarcoma 9.8 FGFR3 TWIST1
8 strabismus 9.7 FGFR3 TWIST1
9 synostosis 9.6 FGFR3 TCF12 TWIST1
10 isolated brachycephaly 9.1 FGFR3 TCF12 TWIST1 ZIC1
11 craniosynostosis 9.1 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:

60 33 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 frontal bossing 60 33 hallmark (90%) Very frequent (99-80%) HP:0002007
2 facial asymmetry 60 33 hallmark (90%) Very frequent (99-80%) HP:0000324
3 plagiocephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0001357
4 strabismus 60 33 frequent (33%) Frequent (79-30%) HP:0000486
5 visual field defect 60 33 frequent (33%) Frequent (79-30%) HP:0001123
6 macrocephaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0000256
7 intellectual disability 60 33 occasional (7.5%) Occasional (29-5%) HP:0001249
8 hearing impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000365
9 global developmental delay 60 33 occasional (7.5%) Occasional (29-5%) HP:0001263
10 midface retrusion 60 33 occasional (7.5%) Occasional (29-5%) HP:0011800
11 abnormality of eye movement 60 Frequent (79-30%)

MGI Mouse Phenotypes related to Isolated Plagiocephaly:

47
# 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:

42
Eye, Bone

Publications for Isolated Plagiocephaly

Articles related to Isolated Plagiocephaly:

# Title Authors Year
1
Quantitative analysis of cranial-orbital changes in infants with anterior synostotic plagiocephaly. ( 29761256 )
2018
2
Integrating new knowledge into practice: An evaluation study on a continuing education for Swedish child health nurses on non-synostotic plagiocephaly. ( 30062027 )
2018
3
Early Surgical Treatment in Anterior Synostotic Plagiocephaly: Is This the Best Choice? ( 30320675 )
2018
4
Quantitative analysis of craniofacial dysmorphology in infants with anterior synostotic plagiocephaly. ( 27541866 )
2016
5
Unicoronal synostotic plagiocephaly: surgical correction: Lille's technique. ( 22872260 )
2012
6
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
7
Nasal and ethmoidal alterations in anterior synostotic plagiocephaly. ( 21403535 )
2011
8
Synostotic plagiocephaly causing pseudoparalysis of the superior oblique and ocular torticollis: report of a case with unique sensory findings. ( 9852441 )
1998
9
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 positive regulation of transcription by RNA polymerase II GO:0045944 9.43 TCF12 TWIST1 ZIC1
2 multicellular organism development GO:0007275 9.33 TCF12 TWIST1 ZIC1
3 muscle organ development GO:0007517 8.96 TCF12 TWIST1
4 cell differentiation GO:0030154 8.8 TCF12 TWIST1 ZIC1

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, RNA polymerase II-specific GO:0000981 9.5 TCF12 TWIST1 ZIC1
2 DNA-binding transcription factor activity GO:0003700 9.33 TCF12 TWIST1 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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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