MCID: CRN217
MIFTS: 27

Craniosynostosis 3 malady

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

Summaries for Craniosynostosis 3

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OMIM:46 Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that... (615314) more...

MalaCards based summary: Craniosynostosis 3, also known as non-syndromic unicoronal synostosis, is related to plagiocephaly and craniosynostosis, and has symptoms including facial asymmetry, plagiocephaly and frontal bossing. 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.

Aliases & Classifications for Craniosynostosis 3

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Sources:
46OMIM, 48Orphanet, 61UMLS, 27ICD10 via Orphanet
See all sources

Craniosynostosis 3, Aliases & Descriptions:

Name: Craniosynostosis 3 46
Non-Syndromic Unicoronal Synostosis 48
Plagiocephaly, Synostotic 61
 
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 Orphanet27 Q67.3

Related Diseases for Craniosynostosis 3

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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:

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

Clinvar genetic disease variations for Craniosynostosis 3:

7
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
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Craniosynostosis 3

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet