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 59
Non-Syndromic Unicoronal Synostosis 59
Synostotic Plagiocephaly 59
Craniosynostosis 73

Characteristics:

Orphanet epidemiological data:

59
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 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 macrocephaly 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 12)
# 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 9.7 FGFR3 TWIST1
6 saethre-chotzen syndrome 9.7 FGFR3 TWIST1
7 pfeiffer syndrome 9.6 FGFR3 TWIST1
8 gliosarcoma 9.5 FGFR3 TWIST1
9 strabismus 9.2 FGFR3 TWIST1
10 synostosis 8.9 FGFR3 TCF12 TWIST1
11 isolated brachycephaly 8.3 FGFR3 TCF12 TWIST1 ZIC1
12 craniosynostosis 8.3 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:

59 32 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000256
2 facial asymmetry 59 32 hallmark (90%) Very frequent (99-80%) HP:0000324
3 hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000365
4 strabismus 59 32 frequent (33%) Frequent (79-30%) HP:0000486
5 visual field defect 59 32 frequent (33%) Frequent (79-30%) HP:0001123
6 intellectual disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001249
7 global developmental delay 59 32 occasional (7.5%) Occasional (29-5%) HP:0001263
8 plagiocephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001357
9 frontal bossing 59 32 hallmark (90%) Very frequent (99-80%) HP:0002007
10 midface retrusion 59 32 occasional (7.5%) Occasional (29-5%) HP:0011800
11 abnormality of eye movement 59 Frequent (79-30%)

MGI Mouse Phenotypes related to Isolated Plagiocephaly:

46
# 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:

41
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
Quantitative analysis of craniofacial dysmorphology in infants with anterior synostotic plagiocephaly. ( 27541866 )
2016
3
Unicoronal synostotic plagiocephaly: surgical correction: Lille's technique. ( 22872260 )
2012
4
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
5
Nasal and ethmoidal alterations in anterior synostotic plagiocephaly. ( 21403535 )
2011
6
Synostotic plagiocephaly causing pseudoparalysis of the superior oblique and ocular torticollis: report of a case with unique sensory findings. ( 9852441 )
1998
7
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 9.26 FGFR3 TCF12 TWIST1 ZIC1
3 muscle organ development GO:0007517 9.16 TCF12 TWIST1
4 cell differentiation GO:0030154 8.92 FGFR3 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 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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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