MCID: ISL062
MIFTS: 26

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 56
Non-Syndromic Unicoronal Synostosis 56
Synostotic Plagiocephaly 56
Craniosynostosis 69

Characteristics:

Orphanet epidemiological data:

56
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 plasmalogens synthesis deficiency isolated, 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 nervous system

Related Diseases for Isolated Plagiocephaly

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:

56 32 (show all 11)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0000256
2 facial asymmetry 56 32 hallmark (90%) Very frequent (99-80%) HP:0000324
3 hearing impairment 56 32 occasional (7.5%) Occasional (29-5%) HP:0000365
4 strabismus 56 32 frequent (33%) Frequent (79-30%) HP:0000486
5 visual field defect 56 32 frequent (33%) Frequent (79-30%) HP:0001123
6 intellectual disability 56 32 occasional (7.5%) Occasional (29-5%) HP:0001249
7 global developmental delay 56 32 occasional (7.5%) Occasional (29-5%) HP:0001263
8 plagiocephaly 56 32 hallmark (90%) Very frequent (99-80%) HP:0001357
9 frontal bossing 56 32 hallmark (90%) Very frequent (99-80%) HP:0002007
10 midface retrusion 56 32 occasional (7.5%) Occasional (29-5%) HP:0011800
11 abnormality of eye movement 56 Frequent (79-30%)

MGI Mouse Phenotypes related to Isolated Plagiocephaly:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.26 FGFR3 TCF12 TWIST1 ZIC1
2 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:

39
Eye, Bone

Publications for Isolated Plagiocephaly

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:

id 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:

id Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.43 TCF12 TWIST1 ZIC1
2 positive regulation of transcription from RNA polymerase II promoter 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:

id Name GO ID Score Top Affiliating Genes
1 transcription factor activity, sequence-specific DNA binding GO:0003700 9.33 TCF12 TWIST1 ZIC1
2 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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