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

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