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:
65UMLS, 51Orphanet, 28ICD10 via Orphanet
See all sources

Aliases & Descriptions for Isolated Plagiocephaly:

Name: Isolated Plagiocephaly 51
Non-Syndromic Unicoronal Synostosis 51
 
Synostotic Plagiocephaly 51
Craniosynostosis 65


Classifications:



Characteristics (Orphanet epidemiological data):

51
non-syndromic unicoronal synostosis:
Inheritance: Autosomal dominant,Not applicable; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy


External Ids:

Orphanet51 35098
ICD10 via Orphanet28 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 p2y12 defect, and has symptoms including facial asymmetry, plagiocephaly and frontal bossing. An important gene associated with Isolated Plagiocephaly is FGFR3 (Fibroblast Growth Factor Receptor 3), and among its related pathways is PAK Pathway. Affiliated tissues include eye and bone.

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
1plagiocephaly10.7
2p2y12 defect9.8FGFR3, TCF12
3critical limb ischemia9.8FGFR3, TCF12
4distal monosomy 1q9.8FGFR3, TCF12
5synovitis9.7FGFR3, TCF12

Graphical network of diseases related to Isolated Plagiocephaly:



Diseases related to isolated plagiocephaly

Symptoms for Isolated Plagiocephaly

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Symptoms:

 51 (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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Interventional clinical trials:

idNameStatusNCT IDPhase
1Endoscopic Treatment for Isolated, Single Suture CraniosynostosisWithdrawnNCT00769847

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:

33
Eye, Bone

Animal Models for Isolated Plagiocephaly or affiliated genes

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Publications for Isolated Plagiocephaly

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Variations for Isolated Plagiocephaly

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Clinvar genetic disease variations for Isolated Plagiocephaly:

5 (show all 13)
id Gene Variation Type Significance SNP ID Assembly Location
1TCF12NM_207036.1(TCF12): c.1000_1001delCA (p.Gln334Aspfs)deletionPathogenicrs730880017GRCh38Chr 15, 57234072: 57234073
2TCF12NM_207036.1(TCF12): c.1071delG (p.Ser358Glnfs)deletionPathogenicrs730880015GRCh38Chr 15, 57243507: 57243507
3TCF12NM_207036.1(TCF12): c.1366dupA (p.Ile456Asnfs)duplicationPathogenicrs730880326GRCh38Chr 15, 57253367: 57253367
4TCF12NM_207036.1(TCF12): c.1838G> A (p.Arg613His)single nucleotide variantPathogenicrs730880016GRCh38Chr 15, 57273122: 57273122
5FGFR3NM_000142.4(FGFR3): c.1172C> A (p.Ala391Glu)single nucleotide variantPathogenicrs28931615GRCh37Chr 4, 1806153: 1806153
6FGFR3NM_000142.4(FGFR3): c.749C> G (p.Pro250Arg)single nucleotide variantPathogenicrs4647924GRCh37Chr 4, 1803571: 1803571
7TCF12TCF12, SER281TERsingle nucleotide variantPathogenic
8TCF12TCF12, 1-BP DUP, 1491TduplicationPathogenic
9TCF12NM_003205.3(TCF12): c.722C> G (p.Ser241Ter)single nucleotide variantPathogenicrs398122381GRCh37Chr 15, 57524525: 57524525
10TCF12TCF12, 1-BP DEL, 1646AdeletionPathogenic
11TCF12TCF12, GLU656TERsingle nucleotide variantPathogenic
12TCF12TCF12, IVS12, G-C, +1single nucleotide variantPathogenic
13TCF12TCF12, 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

GO Terms for genes affiliated with Isolated Plagiocephaly

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Sources for Isolated Plagiocephaly

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet