MCID: ISL084
MIFTS: 19

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 60
Non-Syndromic Metopic Craniosynostosis 60

Characteristics:

Orphanet epidemiological data:

60
isolated trigonocephaly
Inheritance: Autosomal dominant,Not applicable; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

Classifications:



External Ids:

ICD10 via Orphanet 35 Q75.0
UMLS via Orphanet 75 C0265535
Orphanet 60 ORPHA3366

Summaries for Isolated Trigonocephaly

MalaCards based summary : Isolated Trigonocephaly, also known as non-syndromic metopic craniosynostosis, is related to trigonocephaly 2 and trigonocephaly 1. An important gene associated with Isolated Trigonocephaly is FREM1 (FRAS1 Related Extracellular Matrix 1). Affiliated tissues include bone and 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 trigonocephaly 2 11.2
2 trigonocephaly 1 10.2
3 craniosynostosis 10.2

Symptoms & Phenotypes for Isolated Trigonocephaly

Human phenotypes related to Isolated Trigonocephaly:

60 33 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 trigonocephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000243
2 prominent supraorbital ridges 60 33 frequent (33%) Frequent (79-30%) HP:0000336
3 wide nasal bridge 60 33 frequent (33%) Frequent (79-30%) HP:0000431
4 hypotelorism 60 33 frequent (33%) Frequent (79-30%) HP:0000601
5 synophrys 60 33 frequent (33%) Frequent (79-30%) HP:0000664
6 omphalocele 60 33 occasional (7.5%) Occasional (29-5%) HP:0001539

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

27 (show all 14)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.5 FGFR1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-102 9.5 FREM1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.5 FREM1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-125 9.5 FGFR1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.5 FGFR1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.5 FGFR1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-183 9.5 FGFR1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-37 9.5 FREM1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.5 FGFR1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.5 FGFR1 FREM1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.5 FGFR1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.5 FGFR1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-83 9.5 FGFR1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.5 FREM1

MGI Mouse Phenotypes related to Isolated Trigonocephaly:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.16 FGFR1 FREM1
2 limbs/digits/tail MP:0005371 8.96 FGFR1 FREM1
3 renal/urinary system MP:0005367 8.62 FGFR1 FREM1

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:

42
Bone, Eye

Publications for Isolated Trigonocephaly

Articles related to Isolated Trigonocephaly:

# Title Authors Year
1
Clinical Evaluation of Standardized Fronto-Orbital Advancement for Correction of Isolated Trigonocephaly. ( 29040150 )
2018
2
Role of parental risk factors in the aetiology of isolated non-syndromic metopic craniosynostosis. ( 20510490 )
2010

Variations for Isolated Trigonocephaly

Expression for Isolated Trigonocephaly

Search GEO for disease gene expression data for Isolated Trigonocephaly.

Pathways for Isolated Trigonocephaly

GO Terms for Isolated Trigonocephaly

Sources for Isolated Trigonocephaly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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