MCID: ISL062
MIFTS: 18

Isolated Plagiocephaly malady

Eye diseases, Bone diseases, Fetal diseases, Rare diseases categories

Aliases & Classifications for Isolated Plagiocephaly

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Sources:
60UMLS, 47Orphanet, 26ICD10 via Orphanet
See all sources

Isolated Plagiocephaly, Aliases & Descriptions:

Name: Isolated Plagiocephaly 47
Non-Syndromic Unicoronal Synostosis 47
 
Synostotic Plagiocephaly 47
Craniosynostosis 60


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases, Rare diseases
Anatomical: Eye diseases, Bone diseases


Characteristics (Orphanet epidemiological data):

47
non-syndromic unicoronal synostosis:
Inheritance: Autosomal dominant,Not applicable; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy


External Ids:

Orphanet47 35098
ICD10 via Orphanet26 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 craniosynostosis, and has symptoms including facial asymmetry, plagiocephaly and frontal bossing. An important gene associated with Isolated Plagiocephaly is TCF12 (transcription factor 12), and among its related pathways are ERK Signaling and PAK Pathway. Affiliated tissues include eye and bone, and related mouse phenotype hematopoietic system.

Related Diseases for Isolated Plagiocephaly

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

idRelated DiseaseScoreTop Affiliating Genes
1plagiocephaly10.6
2craniosynostosis10.2FGFR3
3craniosynostosis 310.0TCF12

Symptoms for Isolated Plagiocephaly

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Symptoms:

 47 (show all 11)
  • plagiocephaly
  • frontal bossing/prominent forehead
  • facial structural asymmetry/facial hemiatrophy/facial hemihypertrophy
  • abnormal visual field/hemianopsia/hemianopia/scotoma/visual peripheral rim
  • abnormal eye movements/oculomotor disorder
  • strabismus/squint
  • macrocephaly/macrocrania/megalocephaly/megacephaly
  • mid-facial hypoplasia/short/small midface
  • hearing loss/hypoacusia/deafness
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • autosomal dominant inheritance

HPO human phenotypes related to Isolated Plagiocephaly:

(show all 9)
id Description Frequency HPO Source Accession
1 facial asymmetry hallmark (90%) HP:0000324
2 plagiocephaly hallmark (90%) HP:0001357
3 frontal bossing hallmark (90%) HP:0002007
4 strabismus typical (50%) HP:0000486
5 visual field defect typical (50%) HP:0001123
6 macrocephaly occasional (7.5%) HP:0000256
7 malar flattening occasional (7.5%) HP:0000272
8 hearing impairment occasional (7.5%) HP:0000365
9 cognitive impairment occasional (7.5%) HP:0100543

Drugs & Therapeutics for Isolated Plagiocephaly

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Drug clinical trials:

Search ClinicalTrials for Isolated Plagiocephaly

Search 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:

31
Eye, Bone

Animal Models for Isolated Plagiocephaly or affiliated genes

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MGI Mouse Phenotypes related to Isolated Plagiocephaly:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053979.1FGFR3, TCF12

Publications for Isolated Plagiocephaly

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Variations for Isolated Plagiocephaly

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Clinvar genetic disease variations for Isolated Plagiocephaly:

6
id Gene Variation Type Significance SNP ID Assembly Location
1TCF12TCF12, SER281TERsingle nucleotide variantPathogenic
2TCF12TCF12, 1-BP DUP, 1491TduplicationPathogenic
3TCF12NM_003205.3(TCF12): c.722C> G (p.Ser241Ter)single nucleotide variantPathogenicrs398122381GRCh37Chr 15, 57524525: 57524525
4TCF12TCF12, 1-BP DEL, 1646AdeletionPathogenic
5TCF12TCF12, GLU656TERsingle nucleotide variantPathogenic
6TCF12TCF12, IVS12, G-C, +1single nucleotide variantPathogenic
7TCF12TCF12, GLN638GLUsingle nucleotide variantPathogenic

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 pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1FGFR3, TCF12
2
Show member pathways
9.1FGFR3, TCF12
3
Show member pathways
9.1FGFR3, TCF12

Compounds for genes affiliated with Isolated Plagiocephaly

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GO Terms for genes affiliated with Isolated Plagiocephaly

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Products for genes affiliated with Isolated Plagiocephaly

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Isolated Plagiocephaly

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet