TRIGNO1
MCID: TRG016
MIFTS: 30

Trigonocephaly 1 (TRIGNO1)

Categories: Genetic diseases

Aliases & Classifications for Trigonocephaly 1

MalaCards integrated aliases for Trigonocephaly 1:

Name: Trigonocephaly 1 57 72 29 13 6
Metopic Craniosynostosis 72 17
Trigno1 57 72
Interfrontal Craniofaciosynostosis 70
Craniosynostosis, Metopic 57
Trigonocephaly, Type 1 39
Trigonocephaly 2 70

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
trigonocephaly 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 190440
OMIM Phenotypic Series 57 PS190440
MeSH 44 D003398
MedGen 41 C0432122
UMLS 70 C0432122 C3280974

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) (Updated 20-May-2021)

MalaCards based summary : Trigonocephaly 1, also known as metopic craniosynostosis, is related to isolated trigonocephaly and 9q22.3 microdeletion. An important gene associated with Trigonocephaly 1 is FGFR1 (Fibroblast Growth Factor Receptor 1). Affiliated tissues include bone, and related phenotypes are microcephaly and preauricular skin tag

UniProtKB/Swiss-Prot : 72 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 49)
# Related Disease Score Top Affiliating Genes
1 isolated trigonocephaly 11.2
2 9q22.3 microdeletion 11.1
3 trigonocephaly 2 11.0
4 craniosynostosis 10.9
5 synostosis 10.7
6 strabismus 10.2
7 astigmatism 10.2
8 alacrima, achalasia, and mental retardation syndrome 10.2
9 suppression amblyopia 10.2
10 amblyopia 10.2
11 myopia 10.2
12 anisometropia 10.2
13 mechanical strabismus 10.2
14 refractive error 10.2
15 hypotonia 10.2
16 syndromic craniosynostosis 10.2
17 saethre-chotzen syndrome 10.0
18 basal cell nevus syndrome 10.0
19 lentigines 10.0
20 chromosome 9p deletion syndrome 10.0
21 noonan syndrome 1 10.0
22 greig cephalopolysyndactyly syndrome 10.0
23 wolf-hirschhorn syndrome 10.0
24 acrocallosal syndrome 10.0
25 neurofibromatosis-noonan syndrome 10.0
26 polydactyly 10.0
27 urinary tract infection 10.0
28 pre-eclampsia 10.0
29 microcephaly 10.0
30 hydrocephalus 10.0
31 eclampsia 10.0
32 obstructive hydrocephalus 10.0
33 noonan syndrome with multiple lentigines 10.0
34 conversion disorder 10.0
35 dysostosis 10.0
36 neurofibromatosis 10.0
37 47,xyy 10.0
38 cleidocranial dysplasia spectrum disorder 10.0
39 frem1 autosomal recessive disorders 10.0
40 glioma 10.0
41 lambdoid synostosis 10.0
42 plagiocephaly 10.0
43 pseudo-turner syndrome 10.0
44 seizure disorder 10.0
45 glial tumor 10.0
46 isolated craniosynostosis 10.0
47 nasal glial heterotopia 10.0
48 isolated oxycephaly 10.0
49 monosomy 9q22.3 10.0

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



Diseases related to Trigonocephaly 1

Symptoms & Phenotypes for Trigonocephaly 1

Human phenotypes related to Trigonocephaly 1:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 microcephaly 31 HP:0000252
2 preauricular skin tag 31 HP:0000384
3 craniosynostosis 31 HP:0001363
4 hypotelorism 31 HP:0000601
5 synophrys 31 HP:0000664
6 omphalocele 31 HP:0001539
7 trigonocephaly 31 HP:0000243
8 long penis 31 HP:0000040
9 meckel diverticulum 31 HP:0002245
10 lumbar hemivertebrae 31 HP:0008439

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Head:
microcephaly
trigonocephaly

Abdomen External Features:
omphalocele

Skeletal Spine:
lumbar hemivertebrae

Head And Neck Ears:
preauricular skin tags

Genitourinary External Genitalia Male:
large penis

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

Abdomen Gastrointestinal:
meckel diverticulum

Neurologic Central Nervous System:
normal intelligence

Skin Nails Hair Hair:
synophrys, mild

Skeletal Skull:
craniosynostosis (metopic suture)

Clinical features from OMIM®:

190440 (Updated 20-May-2021)

Drugs & Therapeutics for Trigonocephaly 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Comparison of Allogenix Plus Demineralized Bone Matrix and Autogenous Bone Dust Versus Autogenous Bone Dust Alone in Ossification of Small Calvarial Defects, a Pilot Study. 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:

40
Bone

Publications for Trigonocephaly 1

Articles related to Trigonocephaly 1:

# Title Authors PMID Year
1
An unusual FGFR1 mutation (fibroblast growth factor receptor 1 mutation) in a girl with non-syndromic trigonocephaly. 57 6
11173846 2000
2
Molecular screening for microdeletions at 9p22-p24 and 11q23-q24 in a large cohort of patients with trigonocephaly. 57
15857417 2005
3
Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis. 6
15793702 2005
4
Antley-Bixler syndrome with radioulnar synostosis. 6
14513299 2004
5
Autosomal dominant craniosynostosis of the sutura metopica. 57
2282717 1990
6
Trigonocephaly: a new familial syndrome. 57
6741996 1984
7
Objective Assessment of the Interfrontal Angle for Severity Grading and Operative Decision-Making in Metopic Synostosis. 61
27119927 2016

Variations for Trigonocephaly 1

ClinVar genetic disease variations for Trigonocephaly 1:

6 (show top 50) (show all 141)
# 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 FGFR1 NM_023110.2(FGFR1):c.1097C>T (p.Pro366Leu) SNV Likely pathogenic 16299 rs121909641 GRCh37: 8:38277238-38277238
GRCh38: 8:38419720-38419720
3 FGFR1 NM_023110.2(FGFR1):c.899T>C (p.Ile300Thr) SNV Uncertain significance 16289 rs121909633 GRCh37: 8:38282064-38282064
GRCh38: 8:38424546-38424546
4 FGFR1 NM_023110.3(FGFR1):c.289G>T (p.Gly97Cys) SNV Uncertain significance 689761 rs1260404537 GRCh37: 8:38287269-38287269
GRCh38: 8:38429751-38429751
5 FGFR1 NM_023110.3(FGFR1):c.741C>T (p.Val247=) SNV Uncertain significance 908096 GRCh37: 8:38283644-38283644
GRCh38: 8:38426126-38426126
6 FGFR1 NM_023110.2(FGFR1):c.*118C>T SNV Uncertain significance 362886 rs886062916 GRCh37: 8:38271028-38271028
GRCh38: 8:38413510-38413510
7 FGFR1 NM_023110.2(FGFR1):c.549C>T (p.Thr183=) SNV Uncertain significance 362902 rs886062920 GRCh37: 8:38285511-38285511
GRCh38: 8:38427993-38427993
8 FGFR1 NM_023110.2(FGFR1):c.*1965G>A SNV Uncertain significance 362861 rs886062907 GRCh37: 8:38269181-38269181
GRCh38: 8:38411663-38411663
9 FGFR1 NM_023110.2(FGFR1):c.*313T>C SNV Uncertain significance 362885 rs886062915 GRCh37: 8:38270833-38270833
GRCh38: 8:38413315-38413315
10 FGFR1 NM_023110.2(FGFR1):c.*1026T>C SNV Uncertain significance 362874 rs542417198 GRCh37: 8:38270120-38270120
GRCh38: 8:38412602-38412602
11 FGFR1 NM_023110.2(FGFR1):c.*2391A>G SNV Uncertain significance 362856 rs185729862 GRCh37: 8:38268755-38268755
GRCh38: 8:38411237-38411237
12 FGFR1 NM_023110.2(FGFR1):c.2293-11G>A SNV Uncertain significance 362892 rs886062919 GRCh37: 8:38271333-38271333
GRCh38: 8:38413815-38413815
13 FGFR1 NM_023110.2(FGFR1):c.*1616T>G SNV Uncertain significance 362865 rs886062908 GRCh37: 8:38269530-38269530
GRCh38: 8:38412012-38412012
14 FGFR1 NM_023110.2(FGFR1):c.*1218T>C SNV Uncertain significance 362870 rs886062910 GRCh37: 8:38269928-38269928
GRCh38: 8:38412410-38412410
15 FGFR1 NM_023110.2(FGFR1):c.*845T>C SNV Uncertain significance 362879 rs886062913 GRCh37: 8:38270301-38270301
GRCh38: 8:38412783-38412783
16 FGFR1 NM_023110.2(FGFR1):c.*71A>G SNV Uncertain significance 362888 rs886062917 GRCh37: 8:38271075-38271075
GRCh38: 8:38413557-38413557
17 FGFR1 NM_023110.2(FGFR1):c.-270G>A SNV Uncertain significance 362913 rs578030717 GRCh37: 8:38325680-38325680
GRCh38: 8:38468162-38468162
18 FGFR1 NM_023110.2(FGFR1):c.*762A>G SNV Uncertain significance 362880 rs886062914 GRCh37: 8:38270384-38270384
GRCh38: 8:38412866-38412866
19 FGFR1 NM_023110.2(FGFR1):c.*2407C>T SNV Uncertain significance 362855 rs758524862 GRCh37: 8:38268739-38268739
GRCh38: 8:38411221-38411221
20 FGFR1 NM_023110.2(FGFR1):c.1615G>A (p.Gly539Arg) SNV Uncertain significance 362894 rs201158796 GRCh37: 8:38274872-38274872
GRCh38: 8:38417354-38417354
21 FGFR1 NM_023110.2(FGFR1):c.*313T>G SNV Uncertain significance 362884 rs886062915 GRCh37: 8:38270833-38270833
GRCh38: 8:38413315-38413315
22 FGFR1 NM_023110.2(FGFR1):c.*70C>T SNV Uncertain significance 362889 rs886062918 GRCh37: 8:38271076-38271076
GRCh38: 8:38413558-38413558
23 FGFR1 NM_023110.2(FGFR1):c.1430+13T>C SNV Uncertain significance 362895 rs763815221 GRCh37: 8:38275733-38275733
GRCh38: 8:38418215-38418215
24 FGFR1 NM_023110.2(FGFR1):c.91+6G>T SNV Uncertain significance 362910 rs886062921 GRCh37: 8:38314868-38314868
GRCh38: 8:38457350-38457350
25 FGFR1 NM_023110.2(FGFR1):c.*2057C>T SNV Uncertain significance 362860 rs556829066 GRCh37: 8:38269089-38269089
GRCh38: 8:38411571-38411571
26 FGFR1 NM_023110.2(FGFR1):c.*958G>A SNV Uncertain significance 362876 rs537880800 GRCh37: 8:38270188-38270188
GRCh38: 8:38412670-38412670
27 FGFR1 NM_023110.2(FGFR1):c.*1560C>T SNV Uncertain significance 362866 rs761096092 GRCh37: 8:38269586-38269586
GRCh38: 8:38412068-38412068
28 FGFR1 NM_023110.2(FGFR1):c.*1286C>T SNV Uncertain significance 362869 rs886062909 GRCh37: 8:38269860-38269860
GRCh38: 8:38412342-38412342
29 FGFR1 NM_015850.4(FGFR1):c.2459G>A (p.Arg820His) SNV Uncertain significance 362891 rs758677681 GRCh37: 8:38271150-38271150
GRCh38: 8:38413632-38413632
30 FGFR1 NM_023110.2(FGFR1):c.-853G>C SNV Uncertain significance 362921 rs553799602 GRCh37: 8:38326263-38326263
GRCh38: 8:38468745-38468745
31 FGFR1 NM_023110.2(FGFR1):c.*1144G>A SNV Uncertain significance 362872 rs886062911 GRCh37: 8:38270002-38270002
GRCh38: 8:38412484-38412484
32 FGFR1 NM_023110.3(FGFR1):c.92-3C>T SNV Uncertain significance 908232 GRCh37: 8:38287469-38287469
GRCh38: 8:38429951-38429951
33 FGFR1 NM_023110.3(FGFR1):c.-263G>C SNV Uncertain significance 908295 GRCh37: 8:38325673-38325673
GRCh38: 8:38468155-38468155
34 FGFR1 NM_023110.3(FGFR1):c.-413G>A SNV Uncertain significance 908361 GRCh37: 8:38325823-38325823
GRCh38: 8:38468305-38468305
35 FGFR1 NM_023110.3(FGFR1):c.-434G>A SNV Uncertain significance 908362 GRCh37: 8:38325844-38325844
GRCh38: 8:38468326-38468326
36 FGFR1 NM_023110.3(FGFR1):c.-578A>C SNV Uncertain significance 908431 GRCh37: 8:38325988-38325988
GRCh38: 8:38468470-38468470
37 FGFR1 NM_023110.3(FGFR1):c.*2445A>G SNV Uncertain significance 908500 GRCh37: 8:38268701-38268701
GRCh38: 8:38411183-38411183
38 FGFR1 NM_001354367.1(FGFR1):c.-849C>A SNV Uncertain significance 908502 GRCh37: 8:38326259-38326259
GRCh38: 8:38468741-38468741
39 FGFR1 NM_023110.3(FGFR1):c.*1711G>A SNV Uncertain significance 908638 GRCh37: 8:38269435-38269435
GRCh38: 8:38411917-38411917
40 FGFR1 NM_023110.3(FGFR1):c.*1676G>A SNV Uncertain significance 908639 GRCh37: 8:38269470-38269470
GRCh38: 8:38411952-38411952
41 FGFR1 NM_023110.3(FGFR1):c.*391C>T SNV Uncertain significance 908881 GRCh37: 8:38270755-38270755
GRCh38: 8:38413237-38413237
42 FGFR1 NM_023110.3(FGFR1):c.*345T>A SNV Uncertain significance 908882 GRCh37: 8:38270801-38270801
GRCh38: 8:38413283-38413283
43 FGFR1 NM_023110.3(FGFR1):c.*203G>A SNV Uncertain significance 908949 GRCh37: 8:38270943-38270943
GRCh38: 8:38413425-38413425
44 FGFR1 NM_023110.3(FGFR1):c.-444C>T SNV Uncertain significance 909210 GRCh37: 8:38325854-38325854
GRCh38: 8:38468336-38468336
45 FGFR1 NM_023110.3(FGFR1):c.-466C>T SNV Uncertain significance 909211 GRCh37: 8:38325876-38325876
GRCh38: 8:38468358-38468358
46 FGFR1 NM_023110.3(FGFR1):c.-717C>T SNV Uncertain significance 909277 GRCh37: 8:38326127-38326127
GRCh38: 8:38468609-38468609
47 FGFR1 NM_023110.3(FGFR1):c.*2408C>T SNV Uncertain significance 909349 GRCh37: 8:38268738-38268738
GRCh38: 8:38411220-38411220
48 FGFR1 NM_023110.3(FGFR1):c.*1823G>A SNV Uncertain significance 909426 GRCh37: 8:38269323-38269323
GRCh38: 8:38411805-38411805
49 FGFR1 NM_023110.3(FGFR1):c.*1149G>A SNV Uncertain significance 909558 GRCh37: 8:38269997-38269997
GRCh38: 8:38412479-38412479
50 FGFR1 NM_023110.3(FGFR1):c.*991G>A SNV Uncertain significance 909616 GRCh37: 8:38270155-38270155
GRCh38: 8:38412637-38412637

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

72
# 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 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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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