TRIGNO2
MCID: TRG015
MIFTS: 25

Trigonocephaly 2 (TRIGNO2)

Categories: Genetic diseases

Aliases & Classifications for Trigonocephaly 2

MalaCards integrated aliases for Trigonocephaly 2:

Name: Trigonocephaly 2 57 72 29 13 6 70
Trigno2 57 72
Interfrontal Craniofaciosynostosis 70
Craniosynostosis, Metopic 57
Metopic Craniosynostosis 72
Trigonocephaly, Type 2 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
trigonocephaly 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 614485
OMIM Phenotypic Series 57 PS190440
MeSH 44 D003398
MedGen 41 C3280974
UMLS 70 C0432122 C3280974

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) (Updated 05-Apr-2021)

MalaCards based summary : Trigonocephaly 2, also known as trigno2, is related to isolated trigonocephaly and 9q22.3 microdeletion. An important gene associated with Trigonocephaly 2 is FREM1 (FRAS1 Related Extracellular Matrix 1). Affiliated tissues include bone, and related phenotypes are hypertelorism and microcephaly

UniProtKB/Swiss-Prot : 72 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:

(show all 49)
# Related Disease Score Top Affiliating Genes
1 isolated trigonocephaly 11.2
2 9q22.3 microdeletion 11.1
3 trigonocephaly 1 11.1
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 2:



Diseases related to Trigonocephaly 2

Symptoms & Phenotypes for Trigonocephaly 2

Human phenotypes related to Trigonocephaly 2:

31
# Description HPO Frequency HPO Source Accession
1 hypertelorism 31 occasional (7.5%) HP:0000316
2 microcephaly 31 occasional (7.5%) HP:0000252
3 trigonocephaly 31 HP:0000243
4 metopic synostosis 31 HP:0011330

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

Drugs & Therapeutics for Trigonocephaly 2

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 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

MalaCards organs/tissues related to Trigonocephaly 2:

40
Bone

Publications for Trigonocephaly 2

Articles related to Trigonocephaly 2:

# Title Authors PMID Year
1
Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice. 6 57
21931569 2011
2
Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotype. 57
18452192 2008
3
[Diagnosis and treatment of craniosynostoses: the usefulness of CT combined with 3-dimensional reconstruction]. 61
2727335 1989

Variations for Trigonocephaly 2

ClinVar genetic disease variations for Trigonocephaly 2:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FREM1 NM_144966.5(FREM1):c.4499A>T (p.Glu1500Val) SNV Pathogenic 30766 rs281875280 GRCh37: 9:14776145-14776145
GRCh38: 9:14776147-14776147
2 FREM1 NM_144966.5(FREM1):c.1493G>A (p.Arg498Gln) SNV Pathogenic 30767 rs184394424 GRCh37: 9:14842559-14842559
GRCh38: 9:14842561-14842561
3 FREM1 NM_144966.5(FREM1):c.5249A>G (p.Tyr1750Cys) SNV Uncertain significance 548544 rs762799389 GRCh37: 9:14759855-14759855
GRCh38: 9:14759857-14759857
4 FREM1 NM_144966.5(FREM1):c.3148G>A (p.Ala1050Thr) SNV Uncertain significance 637035 rs556974765 GRCh37: 9:14806785-14806785
GRCh38: 9:14806787-14806787
5 FREM1 NM_144966.5(FREM1):c.578C>G (p.Pro193Arg) SNV Uncertain significance 425454 rs377565472 GRCh37: 9:14859234-14859234
GRCh38: 9:14859236-14859236
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

UniProtKB/Swiss-Prot genetic disease variations for Trigonocephaly 2:

72
# Symbol AA change Variation ID SNP ID
1 FREM1 p.Arg498Gln VAR_067916 rs184394424
2 FREM1 p.Glu1500Val VAR_067917 rs281875280

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
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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