TRIGNO2
MCID: TRG015
MIFTS: 27

Trigonocephaly 2 (TRIGNO2)

Categories: Genetic diseases

Aliases & Classifications for Trigonocephaly 2

MalaCards integrated aliases for Trigonocephaly 2:

Name: Trigonocephaly 2 58 76 30 13 6 74
Trigno2 58 76
Interfrontal Craniofaciosynostosis 74
Craniosynostosis, Metopic 58
Metopic Craniosynostosis 76
Trigonocephaly, Type 2 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
trigonocephaly 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 614485
MeSH 45 D003398
MedGen 43 C3280974

Summaries for Trigonocephaly 2

OMIM : 58 Trigonocephaly occurs predominantly as a nonsyndromic craniosynostosis and has an estimated prevalence of between 1:15,000 and 1:68,000 live births (summary by Vissers et al., 2011). For a discussion of genetic heterogeneity of isolated trigonocephaly, see TRIGNO1 (190440). A syndromic form of trigonocephaly is associated with monosomy for an 8-Mb interval of chromosome 9p22.3 (see 158170). (614485)

MalaCards based summary : Trigonocephaly 2, also known as trigno2, is related to isolated trigonocephaly and trigonocephaly 1. An important gene associated with Trigonocephaly 2 is FREM1 (FRAS1 Related Extracellular Matrix 1). Affiliated tissues include bone, and related phenotypes are hypertelorism and microcephaly

UniProtKB/Swiss-Prot : 76 Trigonocephaly 2: A keel-shaped deformation of the forehead, caused by premature fusion of the metopic sutures. It results in a triangular shape of the head.

Related Diseases for Trigonocephaly 2

Diseases in the Trigonocephaly 1 family:

Trigonocephaly 2

Diseases related to Trigonocephaly 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 16)
# Related Disease Score Top Affiliating Genes
1 isolated trigonocephaly 11.6
2 trigonocephaly 1 11.2
3 craniosynostosis 10.4
4 suppression amblyopia 10.3
5 amblyopia 10.3
6 hypotonia 10.3
7 noonan syndrome 1 10.1
8 greig cephalopolysyndactyly syndrome 10.1
9 hydrocephalus 10.1
10 synostosis 10.1
11 congenital hydrocephalus 10.1
12 glioma 10.1
13 pseudo-turner syndrome 10.1
14 9q22.3 microdeletion 10.1
15 nasal glial heterotopia 10.1
16 monosomy 9q22.3 10.1

Graphical network of the top 20 diseases related to Trigonocephaly 2:



Diseases related to Trigonocephaly 2

Symptoms & Phenotypes for Trigonocephaly 2

Human phenotypes related to Trigonocephaly 2:

33
# Description HPO Frequency HPO Source Accession
1 hypertelorism 33 occasional (7.5%) HP:0000316
2 microcephaly 33 occasional (7.5%) HP:0000252
3 trigonocephaly 33 HP:0000243
4 metopic synostosis 33 HP:0011330

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Head:
trigonocephaly
microcephaly (in some patients)

Skeletal Skull:
metopic craniosynostosis

Head And Neck Eyes:
hypertelorism (in some patients)

Clinical features from OMIM:

614485

Drugs & Therapeutics for Trigonocephaly 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Comparison of a Bone Product to Bone Dust in Ossification of Small Calvarial Defects. Withdrawn NCT01006148 Phase 4

Search NIH Clinical Center for Trigonocephaly 2

Genetic Tests for Trigonocephaly 2

Genetic tests related to Trigonocephaly 2:

# Genetic test Affiliating Genes
1 Trigonocephaly 2 30 FREM1

Anatomical Context for Trigonocephaly 2

MalaCards organs/tissues related to Trigonocephaly 2:

42
Bone

Publications for Trigonocephaly 2

Articles related to Trigonocephaly 2:

(show all 45)
# Title Authors Year
1
In Situ Hinge Technique for the Frontal Bandeau for the Correction of Metopic Craniosynostosis Reduces Operative Time. ( 30896507 )
2019
2
Practical Computed Tomography Scan Findings for Distinguishing Metopic Craniosynostosis from Metopic Ridging. ( 31044100 )
2019
3
Surgical Correction of Metopic Craniosynostosis: A 3-D Photogrammetric Analysis of Cranial Vault Outcomes. ( 29742364 )
2019
4
Endoscopy-assisted early correction of single-suture metopic craniosynostosis: a 19-year experience. ( 30265229 )
2018
5
Safety Outcomes in Endoscopic Versus Open Repair of Metopic Craniosynostosis. ( 29461368 )
2018
6
Comparison of an unsupervised machine learning algorithm and surgeon diagnosis in the clinical differentiation of metopic craniosynostosis and benign metopic ridge. ( 29679032 )
2018
7
Novel 1q22-q23.1 duplication in a patient with lambdoid and metopic craniosynostosis, muscular hypotonia, and psychomotor retardation. ( 29845577 )
2018
8
Correction to: Novel 1q22-q23.1 duplication in a patient with lambdoid and metopic craniosynostosis, muscular hypotonia, and psychomotor retardation. ( 30145696 )
2018
9
Locally affine diffeomorphic surface registration for planning of metopic craniosynostosis surgery. ( 29527598 )
2017
10
Anthropometric Outcome Measures in Patients With Metopic Craniosynostosis. ( 28468154 )
2017
11
A Craniometric Analysis of Cranial Base and Cranial Vault Differences in Patients With Metopic Craniosynostosis. ( 28922245 )
2017
12
How I do it. 3D endoscopic treatment of metopic craniosynostosis through a single incision. ( 28942576 )
2017
13
Bicoronal and metopic craniosynostosis in association with a de novo unbalanced t(2;7) chromosomal translocation. ( 27774767 )
2017
14
Identical Twins Discordant for Metopic Craniosynostosis: Evidence of Epigenetic Influences. ( 28060197 )
2017
15
The Severity of Deformity in Metopic Craniosynostosis Is Correlated with the Degree of Neurologic Dysfunction. ( 28121881 )
2017
16
Incidence of Amblyopia and Its Risk Factors in Children With Isolated Metopic Craniosynostosis. ( 26720640 )
2016
17
Metopic Craniosynostosis: A Demographic Analysis Outside an Urban Environment. ( 27159853 )
2016
18
Personalized Optimal Planning for the Surgical Correction of Metopic Craniosynostosis. ( 28149960 )
2016
19
What's in a Name? Accurately Diagnosing Metopic Craniosynostosis Using a Computational Approach. ( 26710024 )
2016
20
Discussion: What's in a Name? Accurately Diagnosing Metopic Craniosynostosis Using a Computational Approach. ( 26710025 )
2016
21
Evaluating Children With Metopic Craniosynostosis: The Cephalic Width-Intercoronal Distance Ratio. ( 26090786 )
2016
22
The value of tranexamic acid during fronto-orbital advancement in isolated metopic craniosynostosis. ( 26116972 )
2015
23
Classification and Management of Metopic Craniosynostosis. ( 26267575 )
2015
24
Prenatal Diagnosis of Nasal Glioma Associated with Metopic Craniosynostosis: Case Report and Review of the Literature. ( 26622922 )
2015
25
The cranial orbital buttress technique for nonsyndromic unicoronal and metopic craniosynostosis. ( 25929966 )
2015
26
Incidence of Amblyopia and Its Risk Factors in Children With Isolated Metopic Craniosynostosis. ( 25436426 )
2014
27
Secondary bicoronal synostosis after metopic craniosynostosis surgical reconstruction. ( 25624927 )
2014
28
An evaluation of complications, revisions, and long-term aesthetic outcomes in nonsyndromic metopic craniosynostosis. ( 24867728 )
2014
29
Clinical characteristics and surgical decision making for infants with metopic craniosynostosis in conjunction with other congenital anomalies. ( 25289257 )
2013
30
Making the diagnosis: metopic ridge versus metopic craniosynostosis. ( 23348281 )
2013
31
Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay. ( 22190277 )
2012
32
KRAS gene mutations in Noonan syndrome familial cases cluster in the vicinity of the switch II region of the G-domain: report of another family with metopic craniosynostosis. ( 22488932 )
2012
33
Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice. ( 21931569 )
2011
34
A previously undescribed de novo 4p15 deletion in a patient with apparently isolated metopic craniosynostosis. ( 21910230 )
2011
35
Role of parental risk factors in the aetiology of isolated non-syndromic metopic craniosynostosis. ( 20510490 )
2010
36
Metopic craniosynostosis due to mutations in GLI3: A novel association. ( 20583172 )
2010
37
Copy number variation analysis in single-suture craniosynostosis: multiple rare variants including RUNX2 duplication in two cousins with metopic craniosynostosis. ( 20683987 )
2010
38
Variations of endoscopic and open repair of metopic craniosynostosis. ( 19816275 )
2009
39
New severity indices for quantifying single-suture metopic craniosynostosis. ( 18797362 )
2008
40
Statistical shape analysis of metopic craniosynostosis: a preliminary study. ( 17946220 )
2006
41
Congenital metopic craniosynostosis with secondary trigonocephaly: a case report. ( 16703161 )
2006
42
Early development of infants with untreated metopic craniosynostosis. ( 15861054 )
2005
43
Minimizing blood transfusions in the surgical correction of coronal and metopic craniosynostosis. ( 15168053 )
2004
44
Intracranial volume measurement of metopic craniosynostosis. ( 15547393 )
2004
45
[Metopic craniosynostosis. Surgical results in 35 surgically treated cases under 1 year of age]. ( 2695812 )
1989

Variations for Trigonocephaly 2

UniProtKB/Swiss-Prot genetic disease variations for Trigonocephaly 2:

76
# Symbol AA change Variation ID SNP ID
1 FREM1 p.Arg498Gln VAR_067916 rs184394424
2 FREM1 p.Glu1500Val VAR_067917 rs281875280

ClinVar genetic disease variations for Trigonocephaly 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FREM1 NM_144966.5(FREM1): c.4499A> T (p.Glu1500Val) single nucleotide variant Pathogenic rs281875280 GRCh37 Chromosome 9, 14776145: 14776145
2 FREM1 NM_144966.5(FREM1): c.4499A> T (p.Glu1500Val) single nucleotide variant Pathogenic rs281875280 GRCh38 Chromosome 9, 14776147: 14776147
3 FREM1 NM_144966.5(FREM1): c.1493G> A (p.Arg498Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs184394424 GRCh37 Chromosome 9, 14842559: 14842559
4 FREM1 NM_144966.5(FREM1): c.1493G> A (p.Arg498Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs184394424 GRCh38 Chromosome 9, 14842561: 14842561
5 FREM1 NM_144966.5(FREM1): c.578C> G (p.Pro193Arg) single nucleotide variant Uncertain significance rs377565472 GRCh38 Chromosome 9, 14859236: 14859236
6 FREM1 NM_144966.5(FREM1): c.578C> G (p.Pro193Arg) single nucleotide variant Uncertain significance rs377565472 GRCh37 Chromosome 9, 14859234: 14859234
7 FREM1 NM_144966.5(FREM1): c.5249A> G (p.Tyr1750Cys) single nucleotide variant Uncertain significance rs762799389 GRCh37 Chromosome 9, 14759855: 14759855
8 FREM1 NM_144966.5(FREM1): c.5249A> G (p.Tyr1750Cys) single nucleotide variant Uncertain significance rs762799389 GRCh38 Chromosome 9, 14759857: 14759857

Expression for Trigonocephaly 2

Search GEO for disease gene expression data for Trigonocephaly 2.

Pathways for Trigonocephaly 2

GO Terms for Trigonocephaly 2

Sources for Trigonocephaly 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....