MCID: CRN217
MIFTS: 17

Craniosynostosis 3 malady

Eye, Bone, Fetal categories

Summaries for Craniosynostosis 3

Sources:
47OMIM, 33MalaCards
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MalaCards: Craniosynostosis 3, also known as corneal dystrophy, epithelial basement membrane, is related to epithelial basement membrane corneal dystrophy and plagiocephaly, and has symptoms including plagiocephaly, frontal bossing/prominent forehead and facial structural asymmetry/facial hemiatrophy/facial hemihypertrophy. An important gene associated with Craniosynostosis 3 is TCF12 (transcription factor 12), and among its related pathways are Rho Family GTPases and PAK Pathway. Affiliated tissues include brain.

Description from OMIM:47 615314

Aliases & Classifications for Craniosynostosis 3

Sources:
61UMLS, 47OMIM, 49Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
non-syndromic unicoronal synostosis:
Inheritance: Autosomal dominant,Sporadic; Prevalence: 1-5/10000; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

craniosynostosis 3 47
corneal dystrophy, epithelial basement membrane 61
non-syndromic unicoronal synostosis 49
synostotic plagiocephaly 49
isolated plagiocephaly 49


External Ids:

ICD10 via Orphanet26 Q67.3
OMIM47 615314

Related Diseases for Craniosynostosis 3

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the craniosynostosis, type 1 family:

craniosynostosis craniosynostosis, nonsyndromic
craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies craniosynostosis, type 2
craniosynostosis 5 craniosynostosis 3
craniosynostosis 4

Diseases related to Craniosynostosis 3 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1epithelial basement membrane corneal dystrophy10.7
2plagiocephaly10.6
3meesmann corneal dystrophy10.4
4down syndrome10.0FGFR3
5chondrosarcoma10.0FGFR3

Graphical network of diseases related to Craniosynostosis 3:



Diseases related to craniosynostosis 3

Clinical Features for Craniosynostosis 3

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

615314

Clinical synopsis from OMIM:

615314

Symptoms:

49 (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

Drugs & Therapeutics for Craniosynostosis 3

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Craniosynostosis 3

Drug clinical trials:

Search ClinicalTrials for Craniosynostosis 3

Search NIH Clinical Center for Craniosynostosis 3

Search CenterWatch for Craniosynostosis 3

Genetic Tests for Craniosynostosis 3

Anatomical Context for Craniosynostosis 3

Sources:
33MalaCards
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MalaCards organs/tissues related to Craniosynostosis 3:

33
Brain

Animal Models for Craniosynostosis 3 or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Craniosynostosis 3

Genetic Variations for Craniosynostosis 3

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Craniosynostosis 3:

63
id Symbol AA change Variation SNP ID
1TCF12p.Leu600ProVAR_070096
2TCF12p.Gln614GluVAR_070097

Expression for genes affiliated with Craniosynostosis 3

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Craniosynostosis 3

Search GEO for disease gene expression data for Craniosynostosis 3.

Pathways for genes affiliated with Craniosynostosis 3

Sources:
52QIAGEN
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Pathways related to Craniosynostosis 3 according to GeneCards/GeneDecks:

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

Compounds for genes affiliated with Craniosynostosis 3

GO Terms for genes affiliated with Craniosynostosis 3

Products for genes affiliated with Craniosynostosis 3

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Craniosynostosis 3

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet