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 trigonocephaly 2. An important gene associated with Trigonocephaly 1 is FGFR1 (Fibroblast Growth Factor Receptor 1). Affiliated tissues include skin and bone, and related phenotypes are long penis and trigonocephaly

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:

# Related Disease Score Top Affiliating Genes
1 trigonocephaly 2 11.0

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 long penis 32 HP:0000040
2 trigonocephaly 32 HP:0000243
3 microcephaly 32 HP:0000252
4 preauricular skin tag 32 HP:0000384
5 hypotelorism 32 HP:0000601
6 synophrys 32 HP:0000664
7 craniosynostosis 32 HP:0001363
8 omphalocele 32 HP:0001539
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, Bone

Publications for Trigonocephaly 1

Articles related to Trigonocephaly 1:

(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 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

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
Content
Loading form....