MCID: CRN217
MIFTS: 26

Craniosynostosis 3 malady

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

Summaries for Craniosynostosis 3

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48OMIM, 34MalaCards
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MalaCards: Craniosynostosis 3, also known as corneal dystrophy, epithelial basement membrane, is related to plagiocephaly and craniosynostosis, 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 ERK Signaling and PAK Pathway. Affiliated tissues include brain, eye and bone, and related mouse phenotype hematopoietic system.

Description from OMIM:48 615314

Aliases & Classifications for Craniosynostosis 3

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Sources:
48OMIM, 50Orphanet, 63UMLS, 27ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
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 48
corneal dystrophy, epithelial basement membrane 63
non-syndromic unicoronal synostosis 50
synostotic plagiocephaly 50
isolated plagiocephaly 50


External Ids:

ICD10 via Orphanet27 Q67.3
OMIM48 615314

Related Diseases for Craniosynostosis 3

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Sources:
18GeneCards, 19GeneDecks
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Diseases in the Craniosynostosis, Type 1 family:

Craniosynostosis Fgfr3-Related Craniosynostosis
Craniosynostosis, Nonsyndromic Msx2-Related Craniosynostosis
Fgfr2-Related Craniosynostosis Fgfr1-Related Craniosynostosis
Twist1-Related Craniosynostosis 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
1plagiocephaly10.6
2craniosynostosis10.1FGFR3

Symptoms for Craniosynostosis 3

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Sources:
48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

615314

Clinical features from OMIM:

615314

Symptoms:

50 (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:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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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34MalaCards
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MalaCards organs/tissues related to Craniosynostosis 3:

34
Brain, Eye, Bone

Animal Models for Craniosynostosis 3 or affiliated genes

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Sources:
38MGI
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MGI Mouse Phenotypes related to Craniosynostosis 3:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053979.1FGFR3, TCF12

Publications for Craniosynostosis 3

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Variations for Craniosynostosis 3

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Craniosynostosis 3:

65
id Symbol AA change Variation ID SNP ID
1TCF12p.Leu600ProVAR_070096
2TCF12p.Gln614GluVAR_070097

Clinvar genetic disease variations for Craniosynostosis 3:

1
id Gene Name 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 Craniosynostosis 3

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Sources:
2BioGPS, 16Gene 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:
51PathCards, 54QIAGEN
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Pathways related to Craniosynostosis 3 according to GeneCards/GeneDecks:

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 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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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet