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 58
Non-Syndromic Metopic Craniosynostosis 58

Characteristics:

Orphanet epidemiological data:

58
isolated trigonocephaly
Inheritance: Autosomal dominant,Not applicable; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

Classifications:

Orphanet: 58  
Rare eye diseases
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q75.0
UMLS via Orphanet 72 C0265535
Orphanet 58 ORPHA3366

Summaries for Isolated Trigonocephaly

MalaCards based summary : Isolated Trigonocephaly, also known as non-syndromic metopic craniosynostosis, is related to synostosis and craniosynostosis. An important gene associated with Isolated Trigonocephaly is FGFR1 (Fibroblast Growth Factor Receptor 1). Affiliated tissues include bone, eye and skin, 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:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 synostosis 29.5 FREM1 FGFR1
2 craniosynostosis 29.4 FREM1 FGFR1
3 trigonocephaly 2 11.3
4 pre-eclampsia 10.2
5 acute cystitis 10.2
6 eclampsia 10.2
7 skin tag 9.6 FREM1 FGFR1
8 hemifacial microsomia 9.6 FREM1 FGFR1
9 renal hypodysplasia/aplasia 1 9.6 FREM1 FGFR1
10 chromosome 2q35 duplication syndrome 9.5 FREM1 FGFR1
11 coloboma of macula 9.4 FREM1 FGFR1

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:

58 31 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 trigonocephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000243
2 prominent supraorbital ridges 58 31 frequent (33%) Frequent (79-30%) HP:0000336
3 wide nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0000431
4 synophrys 58 31 frequent (33%) Frequent (79-30%) HP:0000664
5 hypotelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000601
6 omphalocele 58 31 occasional (7.5%) Occasional (29-5%) HP:0001539

GenomeRNAi Phenotypes related to Isolated Trigonocephaly according to GeneCards Suite gene sharing:

26 (show all 17)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.58 FGFR1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-102 9.58 FREM1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.58 FREM1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-125 9.58 FGFR1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.58 FGFR1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.58 FGFR1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-180 9.58 FREM1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-183 9.58 FGFR1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-211 9.58 FREM1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-26 9.58 FGFR1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-37 9.58 FREM1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.58 FGFR1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.58 FGFR1 FREM1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.58 FGFR1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.58 FGFR1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-83 9.58 FGFR1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.58 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:

40
Bone, Eye, Skin

Publications for Isolated Trigonocephaly

Articles related to Isolated Trigonocephaly:

(show all 12)
# Title Authors PMID Year
1
Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice. 6
21931569 2011
2
Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis. 6
15793702 2005
3
Antley-Bixler syndrome with radioulnar synostosis. 6
14513299 2004
4
An unusual FGFR1 mutation (fibroblast growth factor receptor 1 mutation) in a girl with non-syndromic trigonocephaly. 6
11173846 2000
5
Statistical shape analyses of trigonocephaly patients. 61
31243581 2020
6
Orbito-facial dysmorphology in patients with different degrees of trigonocephaly severity: quantitative morpho-volumetric analysis in infants with non-syndromic metopic craniosynostosis. 61
31845029 2019
7
Clinical Evaluation of Standardized Fronto-Orbital Advancement for Correction of Isolated Trigonocephaly. 61
29040150 2018
8
Role of parental risk factors in the aetiology of isolated non-syndromic metopic craniosynostosis. 61
20510490 2010
9
Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotype. 61
18452192 2008
10
Clinical and genetic aspects of trigonocephaly: a study of 25 cases. 61
12567409 2003
11
[Cranioplasty for isolated trigonocephaly with developmental disorder]. 61
11725515 2001
12
[Trigonocephaly: isolated, associated and syndromic forms. Genetic study in a series of 278 patients]. 61
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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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