Aliases & Classifications for Trigonocephaly 1

MalaCards integrated aliases for Trigonocephaly 1:

Name: Trigonocephaly 1 53 71 28 13
Trigno1 53 71
Interfrontal Craniofaciosynostosis 69
Craniosynostosis, Metopic 53
Metopic Craniosynostosis 71
Trigonocephaly 2 69

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
trigonocephaly 1:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Trigonocephaly 1

OMIM : 53 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, and has symptoms including microcephaly, long penis and craniosynostosis. An important gene associated with Trigonocephaly 1 is FGFR1 (Fibroblast Growth Factor Receptor 1). Affiliated tissues include skin and bone.

UniProtKB/Swiss-Prot : 71 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:

53
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 Gastroin testinal:
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:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 microcephaly 31 HP:0000252
2 long penis 31 HP:0000040
3 craniosynostosis 31 HP:0001363
4 hypotelorism 31 HP:0000601
5 preauricular skin tag 31 HP:0000384
6 synophrys 31 HP:0000664
7 omphalocele 31 HP:0001539
8 trigonocephaly 31 HP:0000243
9 meckel diverticulum 31 HP:0002245
10 lumbar hemivertebrae 31 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 28 FGFR1

Anatomical Context for Trigonocephaly 1

MalaCards organs/tissues related to Trigonocephaly 1:

38
Skin, Bone

Publications for Trigonocephaly 1

Articles related to Trigonocephaly 1:

(show all 19)
# Title Authors Year
1
Anthropometric Outcome Measures in Patients With Metopic Craniosynostosis. ( 28468154 )
2017
2
A Craniometric Analysis of Cranial Base and Cranial Vault Differences in Patients With Metopic Craniosynostosis. ( 28922245 )
2017
3
Bicoronal and metopic craniosynostosis in association with a de novo unbalanced t(2;7) chromosomal translocation. ( 27774767 )
2017
4
How I do it. 3D endoscopic treatment of metopic craniosynostosis through a single incision. ( 28942576 )
2017
5
Identical Twins Discordant for Metopic Craniosynostosis: Evidence of Epigenetic Influences. ( 28060197 )
2017
6
Metopic Craniosynostosis: A Demographic Analysis Outside an Urban Environment. ( 27159853 )
2016
7
Secondary bicoronal synostosis after metopic craniosynostosis surgical reconstruction. ( 25624927 )
2014
8
Clinical characteristics and surgical decision making for infants with metopic craniosynostosis in conjunction with other congenital anomalies. ( 25289257 )
2013
9
Making the diagnosis: metopic ridge versus metopic craniosynostosis. ( 23348281 )
2013
10
Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay. ( 22190277 )
2012
11
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
12
A previously undescribed de novo 4p15 deletion in a patient with apparently isolated metopic craniosynostosis. ( 21910230 )
2011
13
Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice. ( 21931569 )
2011
14
Copy number variation analysis in single-suture craniosynostosis: multiple rare variants including RUNX2 duplication in two cousins with metopic craniosynostosis. ( 20683987 )
2010
15
Role of parental risk factors in the aetiology of isolated non-syndromic metopic craniosynostosis. ( 20510490 )
2010
16
Metopic craniosynostosis due to mutations in GLI3: A novel association. ( 20583172 )
2010
17
Variations of endoscopic and open repair of metopic craniosynostosis. ( 19816275 )
2009
18
New severity indices for quantifying single-suture metopic craniosynostosis. ( 18797362 )
2008
19
Statistical shape analysis of metopic craniosynostosis: a preliminary study. ( 17946220 )
2006

Variations for Trigonocephaly 1

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

71
# 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....