MCID: CRN217
MIFTS: 27

Craniosynostosis 3 malady

Eye diseases, Bone diseases, Fetal diseases categories

Summaries for Craniosynostosis 3

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Sources:
46OMIM, 32MalaCards
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MalaCards: Craniosynostosis 3, also known as corneal dystrophy, epithelial basement membrane, is related to epithelial basement membrane corneal dystrophy and meesmann corneal dystrophy, and has symptoms including plagiocephaly, facial structural asymmetry/facial hemiatrophy/facial hemihypertrophy and abnormal visual field/hemianopsia/hemianopia/scotoma/visual peripheral rim. 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, eye and bone.

Description from OMIM:46 615314

Aliases & Classifications for Craniosynostosis 3

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Sources:
60UMLS, 46OMIM, 48Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
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 46
corneal dystrophy, epithelial basement membrane 60
non-syndromic unicoronal synostosis 48
synostotic plagiocephaly 48
isolated plagiocephaly 48


External Ids:

ICD10 via Orphanet26 Q67.3
OMIM46 615314

Related Diseases for Craniosynostosis 3

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Sources:
17GeneCards, 18GeneDecks
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Graphical network of diseases related to Craniosynostosis 3:



Diseases related to craniosynostosis 3

Clinical Features for Craniosynostosis 3

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

615314

Clinical synopsis from OMIM:

615314

Symptoms:

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

Drugs & Therapeutics for Craniosynostosis 3

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Sources:
5CenterWatch, 41NIH 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

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Anatomical Context for Craniosynostosis 3

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Sources:
32MalaCards
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MalaCards organs/tissues related to Craniosynostosis 3:

32
Brain, Eye, Bone

Animal Models for Craniosynostosis 3 or affiliated genes

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Publications for Craniosynostosis 3

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Genetic Variations for Craniosynostosis 3

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Craniosynostosis 3:

62
id Symbol AA change Variation ID SNP ID
1TCF12p.Leu600ProVAR_070096
2TCF12p.Gln614GluVAR_070097

Expression for genes affiliated with Craniosynostosis 3

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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

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Sources:
51QIAGEN
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Pathways related to Craniosynostosis 3 according to GeneCards/GeneDecks:

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

Compounds for genes affiliated with Craniosynostosis 3

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GO Terms for genes affiliated with Craniosynostosis 3

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Products for genes affiliated with Craniosynostosis 3

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Craniosynostosis 3

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet