MCID: ISL084
MIFTS: 26

Isolated Trigonocephaly

Categories: Bone diseases, Eye diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Isolated Trigonocephaly

MalaCards integrated aliases for Isolated Trigonocephaly:

Name: Isolated Trigonocephaly 58
Non-Syndromic Metopic Craniosynostosis 58

Characteristics:

Orphanet epidemiological data:

58
isolated trigonocephaly
Inheritance: Autosomal dominant,Not applicable; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

Classifications:

Orphanet: 58  
Rare eye diseases
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q75.0
UMLS via Orphanet 71 C0265535
Orphanet 58 ORPHA3366

Summaries for Isolated Trigonocephaly

MalaCards based summary : Isolated Trigonocephaly, also known as non-syndromic metopic craniosynostosis, is related to synostosis and craniosynostosis. An important gene associated with Isolated Trigonocephaly is FGFR1 (Fibroblast Growth Factor Receptor 1), and among its related pathways/superpathways are Phospholipase-C Pathway and G-protein signaling_Rap2B regulation pathway. Affiliated tissues include eye, and related phenotypes are trigonocephaly and prominent supraorbital ridges

Related Diseases for Isolated Trigonocephaly

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

# Related Disease Score Top Affiliating Genes
1 synostosis 29.8 FREM1 FGFR1
2 craniosynostosis 29.7 FREM1 FGFR1
3 trigonocephaly 2 11.1
4 urinary tract infection 10.2
5 pre-eclampsia 10.2
6 eclampsia 10.2
7 renal hypodysplasia/aplasia 1 9.7 FREM1 FGFR1
8 chromosome 2q35 duplication syndrome 9.6 FREM1 FGFR1
9 coloboma of macula 9.6 FREM1 FGFR1

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



Diseases related to Isolated Trigonocephaly

Symptoms & Phenotypes for Isolated Trigonocephaly

Human phenotypes related to Isolated Trigonocephaly:

58 31 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 trigonocephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000243
2 prominent supraorbital ridges 58 31 frequent (33%) Frequent (79-30%) HP:0000336
3 wide nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0000431
4 hypotelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000601
5 synophrys 58 31 frequent (33%) Frequent (79-30%) HP:0000664
6 omphalocele 58 31 occasional (7.5%) Occasional (29-5%) HP:0001539

GenomeRNAi Phenotypes related to Isolated Trigonocephaly according to GeneCards Suite gene sharing:

26 (show all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.44 FGFR1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-102 9.44 FREM1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.44 FREM1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-125 9.44 FGFR1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.44 FGFR1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-183 9.44 FGFR1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-211 9.44 FREM1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-26 9.44 FGFR1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-37 9.44 FREM1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.44 FGFR1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.44 FGFR1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.44 FGFR1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-83 9.44 FGFR1

Drugs & Therapeutics for Isolated Trigonocephaly

Search Clinical Trials , NIH Clinical Center for Isolated Trigonocephaly

Genetic Tests for Isolated Trigonocephaly

Anatomical Context for Isolated Trigonocephaly

MalaCards organs/tissues related to Isolated Trigonocephaly:

40
Eye

Publications for Isolated Trigonocephaly

Articles related to Isolated Trigonocephaly:

(show all 13)
# Title Authors PMID Year
1
Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice. 6
21931569 2011
2
Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis. 6
15793702 2005
3
Antley-Bixler syndrome with radioulnar synostosis. 6
14513299 2004
4
An unusual FGFR1 mutation (fibroblast growth factor receptor 1 mutation) in a girl with non-syndromic trigonocephaly. 6
11173846 2000
5
Heterozygous intragenic deletions of FREM1 are not associated with trigonocephaly. 61
33038106 2021
6
Orbito-facial dysmorphology in patients with different degrees of trigonocephaly severity: quantitative morpho-volumetric analysis in infants with non-syndromic metopic craniosynostosis. 61
31845029 2020
7
Statistical shape analyses of trigonocephaly patients. 61
31243581 2020
8
Clinical Evaluation of Standardized Fronto-Orbital Advancement for Correction of Isolated Trigonocephaly. 61
29040150 2018
9
Role of parental risk factors in the aetiology of isolated non-syndromic metopic craniosynostosis. 61
20510490 2010
10
Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotype. 61
18452192 2008
11
Clinical and genetic aspects of trigonocephaly: a study of 25 cases. 61
12567409 2003
12
[Cranioplasty for isolated trigonocephaly with developmental disorder]. 61
11725515 2001
13
[Trigonocephaly: isolated, associated and syndromic forms. Genetic study in a series of 278 patients]. 61
9759293 1998

Variations for Isolated Trigonocephaly

ClinVar genetic disease variations for Isolated Trigonocephaly:

6 (show top 50) (show all 149)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FGFR1 NM_023110.2(FGFR1):c.899T>C (p.Ile300Thr) SNV Pathogenic 16289 rs121909633 GRCh37: 8:38282064-38282064
GRCh38: 8:38424546-38424546
2 FREM1 NM_144966.5(FREM1):c.4499A>T (p.Glu1500Val) SNV Pathogenic 30766 rs281875280 GRCh37: 9:14776145-14776145
GRCh38: 9:14776147-14776147
3 FREM1 NM_144966.5(FREM1):c.1493G>A (p.Arg498Gln) SNV Pathogenic 30767 rs184394424 GRCh37: 9:14842559-14842559
GRCh38: 9:14842561-14842561
4 FGFR1 NM_023110.2(FGFR1):c.1097C>T (p.Pro366Leu) SNV Likely pathogenic 16299 rs121909641 GRCh37: 8:38277238-38277238
GRCh38: 8:38419720-38419720
5 FGFR1 NM_015850.4(FGFR1):c.2459G>A (p.Arg820His) SNV Uncertain significance 362891 rs758677681 GRCh37: 8:38271150-38271150
GRCh38: 8:38413632-38413632
6 FREM1 NM_001379081.2(FREM1):c.3694+6G>C SNV Uncertain significance 1030228 GRCh37: 9:14801644-14801644
GRCh38: 9:14801646-14801646
7 FREM1 NM_144966.5(FREM1):c.4412G>A (p.Ser1471Asn) SNV Uncertain significance 218843 rs200650442 GRCh37: 9:14784398-14784398
GRCh38: 9:14784400-14784400
8 FREM1 NM_001379081.2(FREM1):c.3355G>T (p.Asp1119Tyr) SNV Uncertain significance 1033108 GRCh37: 9:14805070-14805070
GRCh38: 9:14805072-14805072
9 FGFR1 NM_023110.3(FGFR1):c.2187-14C>T SNV Uncertain significance 909923 GRCh37: 8:38271555-38271555
GRCh38: 8:38414037-38414037
10 FGFR1 NM_023110.2(FGFR1):c.91+6G>T SNV Uncertain significance 362910 rs886062921 GRCh37: 8:38314868-38314868
GRCh38: 8:38457350-38457350
11 FREM1 NM_144966.5(FREM1):c.578C>G (p.Pro193Arg) SNV Uncertain significance 425454 rs377565472 GRCh37: 9:14859234-14859234
GRCh38: 9:14859236-14859236
12 FGFR1 NM_023110.3(FGFR1):c.861C>T (p.Ile287=) SNV Uncertain significance 912101 GRCh37: 8:38282102-38282102
GRCh38: 8:38424584-38424584
13 FGFR1 NM_023110.3(FGFR1):c.-116C>T SNV Uncertain significance 911062 GRCh37: 8:38325526-38325526
GRCh38: 8:38468008-38468008
14 FGFR1 NM_023110.3(FGFR1):c.-117C>G SNV Uncertain significance 911063 GRCh37: 8:38325527-38325527
GRCh38: 8:38468009-38468009
15 FGFR1 NM_023110.3(FGFR1):c.-320C>T SNV Uncertain significance 911139 GRCh37: 8:38325730-38325730
GRCh38: 8:38468212-38468212
16 FGFR1 NM_023110.3(FGFR1):c.-522G>T SNV Uncertain significance 911211 GRCh37: 8:38325932-38325932
GRCh38: 8:38468414-38468414
17 FGFR1 NM_023110.3(FGFR1):c.-552C>G SNV Uncertain significance 911212 GRCh37: 8:38325962-38325962
GRCh38: 8:38468444-38468444
18 FGFR1 NM_023110.3(FGFR1):c.-741A>G SNV Uncertain significance 909278 GRCh37: 8:38326151-38326151
GRCh38: 8:38468633-38468633
19 FGFR1 NM_001354367.1(FGFR1):c.-747C>G SNV Uncertain significance 911274 GRCh37: 8:38326157-38326157
GRCh38: 8:38468639-38468639
20 FGFR1 NM_023110.3(FGFR1):c.-555G>A SNV Uncertain significance 911406 GRCh37: 8:38325965-38325965
GRCh38: 8:38468447-38468447
21 FGFR1 NM_001354367.1(FGFR1):c.-755C>G SNV Uncertain significance 908501 GRCh37: 8:38326165-38326165
GRCh38: 8:38468647-38468647
22 FGFR1 NM_023110.3(FGFR1):c.*1723C>T SNV Uncertain significance 911588 GRCh37: 8:38269423-38269423
GRCh38: 8:38411905-38411905
23 FGFR1 NM_023110.3(FGFR1):c.*1086A>T SNV Uncertain significance 910486 GRCh37: 8:38270060-38270060
GRCh38: 8:38412542-38412542
24 FGFR1 NM_023110.3(FGFR1):c.*1055C>T SNV Uncertain significance 911717 GRCh37: 8:38270091-38270091
GRCh38: 8:38412573-38412573
25 FGFR1 NM_023110.3(FGFR1):c.*928G>A SNV Uncertain significance 911789 GRCh37: 8:38270218-38270218
GRCh38: 8:38412700-38412700
26 FGFR1 NM_023110.3(FGFR1):c.*231C>T SNV Uncertain significance 911892 GRCh37: 8:38270915-38270915
GRCh38: 8:38413397-38413397
27 FGFR1 NM_023110.3(FGFR1):c.*212G>A SNV Uncertain significance 908948 GRCh37: 8:38270934-38270934
GRCh38: 8:38413416-38413416
28 FGFR1 NM_023110.3(FGFR1):c.2272G>A (p.Val758Met) SNV Uncertain significance 911988 GRCh37: 8:38271456-38271456
GRCh38: 8:38413938-38413938
29 FGFR1 NM_023110.3(FGFR1):c.92-3C>T SNV Uncertain significance 908232 GRCh37: 8:38287469-38287469
GRCh38: 8:38429951-38429951
30 FGFR1 NM_023110.3(FGFR1):c.-263G>C SNV Uncertain significance 908295 GRCh37: 8:38325673-38325673
GRCh38: 8:38468155-38468155
31 FGFR1 NM_023110.3(FGFR1):c.-413G>A SNV Uncertain significance 908361 GRCh37: 8:38325823-38325823
GRCh38: 8:38468305-38468305
32 FGFR1 NM_023110.3(FGFR1):c.-434G>A SNV Uncertain significance 908362 GRCh37: 8:38325844-38325844
GRCh38: 8:38468326-38468326
33 FGFR1 NM_023110.3(FGFR1):c.-578A>C SNV Uncertain significance 908431 GRCh37: 8:38325988-38325988
GRCh38: 8:38468470-38468470
34 FGFR1 NM_023110.3(FGFR1):c.*2445A>G SNV Uncertain significance 908500 GRCh37: 8:38268701-38268701
GRCh38: 8:38411183-38411183
35 FGFR1 NM_001354367.1(FGFR1):c.-849C>A SNV Uncertain significance 908502 GRCh37: 8:38326259-38326259
GRCh38: 8:38468741-38468741
36 FGFR1 NM_023110.3(FGFR1):c.2451C>T (p.Gly817=) SNV Uncertain significance 909011 GRCh37: 8:38271164-38271164
GRCh38: 8:38413646-38413646
37 FGFR1 NM_023110.3(FGFR1):c.-444C>T SNV Uncertain significance 909210 GRCh37: 8:38325854-38325854
GRCh38: 8:38468336-38468336
38 FGFR1 NM_023110.3(FGFR1):c.-466C>T SNV Uncertain significance 909211 GRCh37: 8:38325876-38325876
GRCh38: 8:38468358-38468358
39 FGFR1 NM_023110.3(FGFR1):c.-717C>T SNV Uncertain significance 909277 GRCh37: 8:38326127-38326127
GRCh38: 8:38468609-38468609
40 FGFR1 NM_023110.3(FGFR1):c.*2408C>T SNV Uncertain significance 909349 GRCh37: 8:38268738-38268738
GRCh38: 8:38411220-38411220
41 FGFR1 NM_023110.3(FGFR1):c.*1823G>A SNV Uncertain significance 909426 GRCh37: 8:38269323-38269323
GRCh38: 8:38411805-38411805
42 FGFR1 NM_023110.3(FGFR1):c.*1149G>A SNV Uncertain significance 909558 GRCh37: 8:38269997-38269997
GRCh38: 8:38412479-38412479
43 FGFR1 NM_023110.3(FGFR1):c.*1711G>A SNV Uncertain significance 908638 GRCh37: 8:38269435-38269435
GRCh38: 8:38411917-38411917
44 FGFR1 NM_023110.3(FGFR1):c.*1676G>A SNV Uncertain significance 908639 GRCh37: 8:38269470-38269470
GRCh38: 8:38411952-38411952
45 FGFR1 NM_023110.3(FGFR1):c.*391C>T SNV Uncertain significance 908881 GRCh37: 8:38270755-38270755
GRCh38: 8:38413237-38413237
46 FGFR1 NM_023110.3(FGFR1):c.*345T>A SNV Uncertain significance 908882 GRCh37: 8:38270801-38270801
GRCh38: 8:38413283-38413283
47 FGFR1 NM_023110.3(FGFR1):c.*203G>A SNV Uncertain significance 908949 GRCh37: 8:38270943-38270943
GRCh38: 8:38413425-38413425
48 FGFR1 NM_023110.3(FGFR1):c.*991G>A SNV Uncertain significance 909616 GRCh37: 8:38270155-38270155
GRCh38: 8:38412637-38412637
49 FGFR1 NM_023110.3(FGFR1):c.*819T>G SNV Uncertain significance 909678 GRCh37: 8:38270327-38270327
GRCh38: 8:38412809-38412809
50 FGFR1 NM_023110.3(FGFR1):c.*802C>T SNV Uncertain significance 909679 GRCh37: 8:38270344-38270344
GRCh38: 8:38412826-38412826

Expression for Isolated Trigonocephaly

Search GEO for disease gene expression data for Isolated Trigonocephaly.

Pathways for Isolated Trigonocephaly

Pathways related to Isolated Trigonocephaly according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.85 FREM1 FGFR1
2 9.53 FREM1 FGFR1

GO Terms for Isolated Trigonocephaly

Sources for Isolated Trigonocephaly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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