Aliases & Classifications for Trigonocephaly 2

MalaCards integrated aliases for Trigonocephaly 2:

Name: Trigonocephaly 2 57 75 29 13 6 73
Trigno2 57 75
Interfrontal Craniofaciosynostosis 73
Craniosynostosis, Metopic 57
Metopic Craniosynostosis 75
Trigonocephaly, Type 2 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
trigonocephaly 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 614485
MedGen 42 C3280974
MeSH 44 D003398

Summaries for Trigonocephaly 2

OMIM : 57 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 trigonocephaly 1. An important gene associated with Trigonocephaly 2 is FREM1 (FRAS1 Related Extracellular Matrix 1). Related phenotypes are hypertelorism and microcephaly

UniProtKB/Swiss-Prot : 75 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:

# Related Disease Score Top Affiliating Genes
1 trigonocephaly 1 10.9

Symptoms & Phenotypes for Trigonocephaly 2

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Trigonocephaly 2:

32
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 occasional (7.5%) HP:0000316
2 microcephaly 32 occasional (7.5%) HP:0000252
3 trigonocephaly 32 HP:0000243
4 metopic synostosis 32 HP:0011330

Drugs & Therapeutics for Trigonocephaly 2

Search Clinical Trials , NIH Clinical Center for Trigonocephaly 2

Genetic Tests for Trigonocephaly 2

Genetic tests related to Trigonocephaly 2:

# Genetic test Affiliating Genes
1 Trigonocephaly 2 29 FREM1

Anatomical Context for Trigonocephaly 2

Publications for Trigonocephaly 2

Articles related to Trigonocephaly 2:

(show all 22)
# 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
A Craniometric Analysis of Cranial Base and Cranial Vault Differences in Patients With Metopic Craniosynostosis. ( 28922245 )
2017
3
Anthropometric Outcome Measures in Patients With Metopic Craniosynostosis. ( 28468154 )
2017
4
Bicoronal and metopic craniosynostosis in association with a de novo unbalanced t(2;7) chromosomal translocation. ( 27774767 )
2017
5
Identical Twins Discordant for Metopic Craniosynostosis: Evidence of Epigenetic Influences. ( 28060197 )
2017
6
How I do it. 3D endoscopic treatment of metopic craniosynostosis through a single incision. ( 28942576 )
2017
7
Metopic Craniosynostosis: A Demographic Analysis Outside an Urban Environment. ( 27159853 )
2016
8
An evaluation of complications, revisions, and long-term aesthetic outcomes in nonsyndromic metopic craniosynostosis. ( 24867728 )
2014
9
Secondary bicoronal synostosis after metopic craniosynostosis surgical reconstruction. ( 25624927 )
2014
10
Making the diagnosis: metopic ridge versus metopic craniosynostosis. ( 23348281 )
2013
11
Clinical characteristics and surgical decision making for infants with metopic craniosynostosis in conjunction with other congenital anomalies. ( 25289257 )
2013
12
Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay. ( 22190277 )
2012
13
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
14
A previously undescribed de novo 4p15 deletion in a patient with apparently isolated metopic craniosynostosis. ( 21910230 )
2011
15
Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice. ( 21931569 )
2011
16
Copy number variation analysis in single-suture craniosynostosis: multiple rare variants including RUNX2 duplication in two cousins with metopic craniosynostosis. ( 20683987 )
2010
17
Metopic craniosynostosis due to mutations in GLI3: A novel association. ( 20583172 )
2010
18
Role of parental risk factors in the aetiology of isolated non-syndromic metopic craniosynostosis. ( 20510490 )
2010
19
Variations of endoscopic and open repair of metopic craniosynostosis. ( 19816275 )
2009
20
New severity indices for quantifying single-suture metopic craniosynostosis. ( 18797362 )
2008
21
Statistical shape analysis of metopic craniosynostosis: a preliminary study. ( 17946220 )
2006
22
[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:

75
# 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

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
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10 dbSNP
11 DGIdb
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69 SNOMED-CT via HPO
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71 TGDB
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74 UMLS via Orphanet
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