Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandCraniosynostoses (D003398)
..Starting node
..expandTRIGONOCEPHALY 1 (OMIM:190440)

       Child Nodes:



 Sister Nodes: 
..expandAcrocephalosyndactylia (D000168) Child11
..expandAurocephalosyndactyly (C566235)
..expandBaraitser Rodeck Garner syndrome (C537906)
..expandBohring syndrome (C537419)
..expandC SYNDROME (OMIM:211750)
..expandCalabro syndrome (C537960)
..expandCole Carpenter syndrome (C535963)
..expandCranioectodermal Dysplasia (C562966) Child1
..expandCraniometaphyseal dysplasia, autosomal recessive type (C536570)
..expandCraniosynostosis Mental Retardation Clefting Syndrome (C565663)
..expandCraniosynostosis Microcephaly with Chromosomal Breakage and Other Abnormalities (C565667)
..expandCraniosynostosis radial aplasia syndrome (C536788)
..expandCraniosynostosis Syndrome, Autosomal Recessive (C564700)
..expandCraniosynostosis with Anomalies of the Cranial Base and Digits (C565666)
..expandCraniosynostosis with Ectopia Lentis (C566357)
..expandCraniosynostosis with Fibular Aplasia (C565665)
..expandCraniosynostosis with Ocular Abnormalities and Hallucal Defects (C564263)
..expandCraniosynostosis, Adelaide Type (C563471)
..expandCraniosynostosis, anal anomalies, and porokeratosis (C536789)
..expandCraniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism (C564241)
..expandCraniosynostosis, Philadelphia Type (C563368)
..expandCraniosynostosis, sagittal, with Dandy-Walker malformation and hydrocephalus (C536790)
..expandCraniosynostosis, Type 2 (C565753)
..expandCraniosynostosis-Mental Retardation Syndrome of Lin and Gettig (C565664)
..expandCraniotelencephalic dysplasia (C535597)
..expandCutis Gyrata Syndrome of Beare And Stevenson (C565129)
..expandFine-Lubinsky syndrome (C537933)
..expandFRONTONASAL DYSPLASIA 2 (OMIM:613451)
..expandFurlong syndrome (C538192)
..expandGenoa syndrome (C537684)
..expandHordnes Engebretsen Knudtson syndrome (C536067)
..expandHunter-McAlpine syndrome (C536072)
..expandIida Kannari syndrome (C536284)
..expandJackson-Weiss syndrome (C537559)
..expandKleeblattschaedel syndrome (C536884)
..expandLowry Maclean syndrome (C537037)
..expandMehta Lewis Patton syndrome (C536147)
..expandMuenke Syndrome (C537369)
..expandOculopalatoskeletal syndrome (C537738)
..expandOpitz trigonocephaly syndrome (C537418)
..expandPfeiffer Tietze Welte syndrome (C537891)
..expandPiepkorn Karp Hickok syndrome (C535774)
..expandPlagiocephaly and X-linked mental retardation (C537512)
..expandPolycystic Kidney Disease, Potter Type I, with Microbrachycephaly, Hypertelorism, and Brachymelia (C564881)
..expandScaphocephaly, Maxillary Retrusion, And Mental Retardation (C566511)
..expandShprintzen Golberg craniosynostosis (C537328)
..expandSkeletal dysplasia, San Diego type (C536670)
..expandSpondyloepiphyseal Dysplasia With Coronal Craniosynostosis, Cataracts, Cleft Palate, And Mental Retardation (C566515)
..expandTrigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet (C564759)
..expandTRIGONOCEPHALY 1 (OMIM:190440)
..expandTrigonocephaly, Nonsyndromic (C562951)
..expandWarman Mulliken Hayward syndrome (C536684)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:11268
Name:TRIGONOCEPHALY 1
Definition:
Alternative IDs:
ParentIDs:MESH:D003398
TreeNumbers:C05.116.099.370.894.232/190440 |C05.660.207.240/190440 |C05.660.207.707.249/190440 |C05.660.906.364/190440 |C16.131.621.207.240/190440 |C16.131.621.207.707.249/190440 |C16.131.621.906.364/190440
Synonyms:CRANIOSYNOSTOSIS, METOPIC |TRIGNO1
Slim Mappings:Congenital abnormality|Musculoskeletal disease
Reference: MedGen: 190440
MeSH: 190440
OMIM: 190440;

Genes: FGFR1;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0001363Craniosynostosis
3 HP:0000601Hypotelorism
4 HP:0000040Long penis
5 HP:0008439Lumbar hemivertebrae
6 HP:0002245Meckel diverticulum
7 HP:0000252Microcephaly
8 HP:0001539Omphalocele
9 HP:0000384Preauricular skin tag
10 HP:0000664Synophrys
11 HP:0000243Trigonocephaly
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_023110.2(FGFR1):c.899T>C (p.Ile300Thr)2260FGFR1Pathogenic121909633RCV000017681; NMedGen:C0432122,OMIM:19044083828206438282064NM_023110.2:c.899T>CNP_075598.2:p.Ile300ThrNC_000008.10:g.38282064A>GOMIM Allelic Variant:136350.0011C0432122 190440 Trigonocephaly 1