TRIGNO1
MCID: TRG016
MIFTS: 28

Trigonocephaly 1 (TRIGNO1)

Categories: Genetic diseases

Aliases & Classifications for Trigonocephaly 1

MalaCards integrated aliases for Trigonocephaly 1:

Name: Trigonocephaly 1 57 75 29 13 6
Trigno1 57 75
Interfrontal Craniofaciosynostosis 73
Craniosynostosis, Metopic 57
Metopic Craniosynostosis 75
Trigonocephaly, Type 1 40
Trigonocephaly 2 73

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
trigonocephaly 1:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Trigonocephaly 1

OMIM : 57 Individuals with trigonocephaly have a keel-shaped forehead with wide biparietal diameter, resulting in a triangular shape of the head. Trigonocephaly results from premature closure of the metopic sutures and usually occurs sporadically (summary by Frydman et al., 1984). (190440)

MalaCards based summary : Trigonocephaly 1, also known as trigno1, is related to isolated trigonocephaly and trigonocephaly 2. An important gene associated with Trigonocephaly 1 is FGFR1 (Fibroblast Growth Factor Receptor 1). Affiliated tissues include skin, and related phenotypes are microcephaly and long penis

UniProtKB/Swiss-Prot : 75 Trigonocephaly 1: 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 1

Diseases in the Trigonocephaly 1 family:

Trigonocephaly 2

Diseases related to Trigonocephaly 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)
# Related Disease Score Top Affiliating Genes
1 isolated trigonocephaly 11.6
2 trigonocephaly 2 11.1
3 craniosynostosis 10.3
4 suppression amblyopia 10.3
5 amblyopia 10.3
6 hypotonia 10.3
7 noonan syndrome 1 10.1
8 hydrocephalus 10.1
9 synostosis 10.1
10 glioma 10.1
11 pseudo-turner syndrome 10.1
12 nasal glial heterotopia 10.1
13 monosomy 9q22.3 10.1

Graphical network of the top 20 diseases related to Trigonocephaly 1:



Diseases related to Trigonocephaly 1

Symptoms & Phenotypes for Trigonocephaly 1

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
microcephaly
trigonocephaly

Abdomen External Features:
omphalocele

Neurologic Central Nervous System:
normal intelligence

Skin Nails Hair Hair:
synophrys, mild

Skeletal Skull:
craniosynostosis (metopic suture)

Head And Neck Eyes:
hypotelorism
synophrys, mild
s-curved lower eyelids

Abdomen Gastrointestinal:
meckel diverticulum

Head And Neck Ears:
preauricular skin tags

Genitourinary External Genitalia Male:
large penis

Skeletal Spine:
lumbar hemivertebrae


Clinical features from OMIM:

190440

Human phenotypes related to Trigonocephaly 1:

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 microcephaly 32 HP:0000252
2 long penis 32 HP:0000040
3 craniosynostosis 32 HP:0001363
4 hypotelorism 32 HP:0000601
5 preauricular skin tag 32 HP:0000384
6 synophrys 32 HP:0000664
7 omphalocele 32 HP:0001539
8 trigonocephaly 32 HP:0000243
9 meckel diverticulum 32 HP:0002245
10 lumbar hemivertebrae 32 HP:0008439

Drugs & Therapeutics for Trigonocephaly 1

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 1

Genetic Tests for Trigonocephaly 1

Genetic tests related to Trigonocephaly 1:

# Genetic test Affiliating Genes
1 Trigonocephaly 1 29 FGFR1

Anatomical Context for Trigonocephaly 1

MalaCards organs/tissues related to Trigonocephaly 1:

41
Skin

Publications for Trigonocephaly 1

Articles related to Trigonocephaly 1:

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

Variations for Trigonocephaly 1

UniProtKB/Swiss-Prot genetic disease variations for Trigonocephaly 1:

75
# Symbol AA change Variation ID SNP ID
1 FGFR1 p.Ile300Thr VAR_030986 rs121909633

ClinVar genetic disease variations for Trigonocephaly 1:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FGFR1 NM_023110.2(FGFR1): c.899T> C (p.Ile300Thr) single nucleotide variant Uncertain significance rs121909633 GRCh37 Chromosome 8, 38282064: 38282064
2 FGFR1 NM_023110.2(FGFR1): c.899T> C (p.Ile300Thr) single nucleotide variant Uncertain significance rs121909633 GRCh38 Chromosome 8, 38424546: 38424546

Expression for Trigonocephaly 1

Search GEO for disease gene expression data for Trigonocephaly 1.

Pathways for Trigonocephaly 1

GO Terms for Trigonocephaly 1

Sources for Trigonocephaly 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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