MCID: ISL084
MIFTS: 20

Isolated Trigonocephaly

Categories: Bone diseases, Eye diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Isolated Trigonocephaly

MalaCards integrated aliases for Isolated Trigonocephaly:

Name: Isolated Trigonocephaly 59
Non-Syndromic Metopic Craniosynostosis 59

Characteristics:

Orphanet epidemiological data:

59
isolated trigonocephaly
Inheritance: Autosomal dominant,Not applicable; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

Classifications:



External Ids:

ICD10 via Orphanet 34 Q75.0
UMLS via Orphanet 73 C0265535
Orphanet 59 ORPHA3366

Summaries for Isolated Trigonocephaly

MalaCards based summary : Isolated Trigonocephaly, also known as non-syndromic metopic craniosynostosis, is related to trigonocephaly 2 and pre-eclampsia. An important gene associated with Isolated Trigonocephaly is FGFR1 (Fibroblast Growth Factor Receptor 1). Affiliated tissues include bone and eye, and related phenotypes are trigonocephaly and prominent supraorbital ridges

Related Diseases for Isolated Trigonocephaly

Diseases related to Isolated Trigonocephaly via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 trigonocephaly 2 11.3
2 pre-eclampsia 10.2
3 acute cystitis 10.2
4 eclampsia 10.2
5 craniosynostosis 10.2
6 c syndrome 10.1

Graphical network of the top 20 diseases related to Isolated Trigonocephaly:



Diseases related to Isolated Trigonocephaly

Symptoms & Phenotypes for Isolated Trigonocephaly

Human phenotypes related to Isolated Trigonocephaly:

59 32 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 trigonocephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000243
2 prominent supraorbital ridges 59 32 frequent (33%) Frequent (79-30%) HP:0000336
3 wide nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0000431
4 hypotelorism 59 32 frequent (33%) Frequent (79-30%) HP:0000601
5 synophrys 59 32 frequent (33%) Frequent (79-30%) HP:0000664
6 omphalocele 59 32 occasional (7.5%) Occasional (29-5%) HP:0001539

MGI Mouse Phenotypes related to Isolated Trigonocephaly:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.16 FGFR1 FREM1
2 limbs/digits/tail MP:0005371 8.96 FGFR1 FREM1
3 renal/urinary system MP:0005367 8.62 FGFR1 FREM1

Drugs & Therapeutics for Isolated Trigonocephaly

Search Clinical Trials , NIH Clinical Center for Isolated Trigonocephaly

Genetic Tests for Isolated Trigonocephaly

Anatomical Context for Isolated Trigonocephaly

MalaCards organs/tissues related to Isolated Trigonocephaly:

41
Bone, Eye

Publications for Isolated Trigonocephaly

Articles related to Isolated Trigonocephaly:

(show all 11)
# Title Authors PMID Year
1
Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice. 71
21931569 2011
2
Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis. 71
15793702 2005
3
Antley-Bixler syndrome with radioulnar synostosis. 71
14513299 2004
4
An unusual FGFR1 mutation (fibroblast growth factor receptor 1 mutation) in a girl with non-syndromic trigonocephaly. 71
11173846 2000
5
Statistical shape analyses of trigonocephaly patients. 38
31243581 2019
6
Clinical Evaluation of Standardized Fronto-Orbital Advancement for Correction of Isolated Trigonocephaly. 38
29040150 2018
7
Role of parental risk factors in the aetiology of isolated non-syndromic metopic craniosynostosis. 38
20510490 2010
8
Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotype. 38
18452192 2008
9
Clinical and genetic aspects of trigonocephaly: a study of 25 cases. 38
12567409 2003
10
[Cranioplasty for isolated trigonocephaly with developmental disorder]. 38
11725515 2001
11
[Trigonocephaly: isolated, associated and syndromic forms. Genetic study in a series of 278 patients]. 38
9759293 1998

Variations for Isolated Trigonocephaly

Expression for Isolated Trigonocephaly

Search GEO for disease gene expression data for Isolated Trigonocephaly.

Pathways for Isolated Trigonocephaly

GO Terms for Isolated Trigonocephaly

Sources for Isolated Trigonocephaly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....