MCID: CRN217
MIFTS: 26

Craniosynostosis 3 malady

Genetic diseases, Eye diseases, Bone diseases, Fetal diseases, Rare diseases categories
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Summaries for Craniosynostosis 3

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MalaCards based summary: Craniosynostosis 3, also known as non-syndromic unicoronal synostosis, is related to plagiocephaly and craniosynostosis, 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 ERK Signaling and PAK Pathway. Affiliated tissues include brain, eye and bone, and related mouse phenotype hematopoietic system.

Description from OMIM:46 615314

Aliases & Classifications for Craniosynostosis 3

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Sources:
46OMIM, 48Orphanet, 62UMLS, 26ICD10 via Orphanet
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Craniosynostosis 3, Aliases & Descriptions:

Name: Craniosynostosis 3 46
Non-Syndromic Unicoronal Synostosis 48
Plagiocephaly, Synostotic 62
 
Synostotic Plagiocephaly 48
Isolated Plagiocephaly 48


Classifications:



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


External Ids:

OMIM46 615314
ICD10 via Orphanet26 Q67.3

Related Diseases for Craniosynostosis 3

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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
2craniosynostosis10.2FGFR3

Symptoms for Craniosynostosis 3

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Symptoms by clinical synopsis from OMIM:

615314

Clinical features from OMIM:

615314

Symptoms:

48 (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 Craniosynostosis 3:

(show all 17)
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
10 low anterior hairline rare (5%) HP:0000294
11 strabismus rare (5%) HP:0000486
12 ptosis rare (5%) HP:0000508
13 autism rare (5%) HP:0000717
14 single transverse palmar crease rare (5%) HP:0000954
15 global developmental delay rare (5%) HP:0001263
16 hallux valgus rare (5%) HP:0001822
17 autosomal dominant inheritance HP:0000006

Drugs & Therapeutics for Craniosynostosis 3

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Drug clinical trials:

Search ClinicalTrials for Craniosynostosis 3

Search NIH Clinical Center for Craniosynostosis 3

Genetic Tests for Craniosynostosis 3

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Anatomical Context for Craniosynostosis 3

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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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MGI Mouse Phenotypes related to Craniosynostosis 3:

36
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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UniProtKB/Swiss-Prot genetic disease variations for Craniosynostosis 3:

64
id Symbol AA change Variation ID SNP ID
1TCF12p.Leu600ProVAR_070096
2TCF12p.Gln614GluVAR_070097

Clinvar genetic disease variations for Craniosynostosis 3:

6
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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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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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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet