MCID: ISL084
MIFTS: 20

Isolated Trigonocephaly

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

Aliases & Classifications for Isolated Trigonocephaly

MalaCards integrated aliases for Isolated Trigonocephaly:

Name: Isolated Trigonocephaly 59
Non-Syndromic Metopic Craniosynostosis 59

Characteristics:

Orphanet epidemiological data:

59
isolated trigonocephaly
Inheritance: Autosomal dominant,Not applicable; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

Classifications:



External Ids:

Orphanet 59 ORPHA3366
UMLS via Orphanet 74 C0265535
ICD10 via Orphanet 34 Q75.0

Summaries for Isolated Trigonocephaly

MalaCards based summary : Isolated Trigonocephaly, also known as non-syndromic metopic craniosynostosis, is related to trigonocephaly 2 and craniosynostosis. An important gene associated with Isolated Trigonocephaly is FREM1 (FRAS1 Related Extracellular Matrix 1). Affiliated tissues include bone and eye, and related phenotypes are prominent supraorbital ridges and wide nasal bridge

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 11.0
2 craniosynostosis 10.1

Symptoms & Phenotypes for Isolated Trigonocephaly

Human phenotypes related to Isolated Trigonocephaly:

59 32 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 prominent supraorbital ridges 59 32 frequent (33%) Frequent (79-30%) HP:0000336
2 wide nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0000431
3 hypotelorism 59 32 frequent (33%) Frequent (79-30%) HP:0000601
4 synophrys 59 32 frequent (33%) Frequent (79-30%) HP:0000664
5 omphalocele 59 32 occasional (7.5%) Occasional (29-5%) HP:0001539
6 trigonocephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000243

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

26 (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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 8.96 FGFR1 FREM1
2 limbs/digits/tail MP:0005371 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:

41
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

Biological processes related to Isolated Trigonocephaly according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 8.62 FGFR1 FREM1

Sources for Isolated Trigonocephaly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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