Aliases & Classifications for Trigonocephaly 1

MalaCards integrated aliases for Trigonocephaly 1:

Name: Trigonocephaly 1 54 71 29 13
Interfrontal Craniofaciosynostosis 69
Metopic Craniosynostosis 71
Trigonocephaly 2 69
Trigno1 71

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant


HPO:

32
trigonocephaly 1:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Trigonocephaly 1

OMIM : 54
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)

MalaCards based summary : Trigonocephaly 1, also known as interfrontal craniofaciosynostosis, is related to trigonocephaly 2 and isolated trigonocephaly, and has symptoms including microcephaly, trigonocephaly and omphalocele. An important gene associated with Trigonocephaly 1 is FGFR1 (Fibroblast Growth Factor Receptor 1). Affiliated tissues include bone and skin.

UniProtKB/Swiss-Prot : 71 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, Nonsyndromic family:

Trigonocephaly 1 Trigonocephaly 2

Diseases related to Trigonocephaly 1 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 trigonocephaly 2 11.0
2 isolated trigonocephaly 11.0
3 craniosynostosis 10.6
4 hydrocephalus 9.9
5 synostosis 9.9
6 conjunctivitis 9.9

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



Diseases related to Trigonocephaly 1

Symptoms & Phenotypes for Trigonocephaly 1

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Head:
microcephaly
trigonocephaly

Neurologic- Central Nervous System:
normal intelligence

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

Skin Nails & Hair- Hair:
synophrys, mild

Skeletal- Skull:
craniosynostosis (metopic suture)

Abdomen- External Features:
omphalocele

Abdomen- Gastroin testinal:
meckel diverticulum

Head And Neck- Ears:
preauricular skin tags

Genitourinary- External Genitalia Male:
large penis

Skeletal- Spine:
lumbar hemivertebrae


Clinical features from OMIM:

190440

Human phenotypes related to Trigonocephaly 1:

32 (show all 10)
id Description HPO Frequency HPO Source Accession
1 microcephaly 32 HP:0000252
2 trigonocephaly 32 HP:0000243
3 omphalocele 32 HP:0001539
4 synophrys 32 HP:0000664
5 meckel diverticulum 32 HP:0002245
6 hypotelorism 32 HP:0000601
7 craniosynostosis 32 HP:0001363
8 preauricular skin tag 32 HP:0000384
9 lumbar hemivertebrae 32 HP:0008439
10 long penis 32 HP:0000040

Drugs & Therapeutics for Trigonocephaly 1

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Comparison of a Bone Product to Bone Dust in Ossification of Small Calvarial Defects. Withdrawn NCT01006148 Phase 4

Search NIH Clinical Center for Trigonocephaly 1

Genetic Tests for Trigonocephaly 1

Genetic tests related to Trigonocephaly 1:

id Genetic test Affiliating Genes
1 Trigonocephaly 1 29

Anatomical Context for Trigonocephaly 1

MalaCards organs/tissues related to Trigonocephaly 1:

39
Bone, Skin

Publications for Trigonocephaly 1

Variations for Trigonocephaly 1

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

71
id 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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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