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
..expandCraniosynostosis, Type 2 (C565753)

       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:2842
Name:Craniosynostosis, Type 2
Definition:
Alternative IDs:OMIM:604757
ParentIDs:MESH:D003398
TreeNumbers:C05.116.099.370.894.232/C565753 |C05.660.207.240/C565753 |C05.660.207.707.249/C565753 |C05.660.906.364/C565753 |C16.131.621.207.240/C565753 |C16.131.621.207.707.249/C565753 |C16.131.621.906.364/C565753
Synonyms:CRANIOSYNOSTOSIS 2 |Craniosynostosis, Boston-Type |CRS2 |CSB
Slim Mappings:Congenital abnormality|Musculoskeletal disease
Reference: MedGen: C565753
MeSH: C565753
OMIM: 604757;

Genes: MSX2;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0011318Bicoronal synostosis
3 HP:0001156BrachydactylyHP:0040283
4 HP:0000244Brachyturricephaly
5 HP:0000185Cleft soft palateHP:0040283
6 HP:0002007Frontal bossing
7 HP:0002315HeadacheHP:0040283
8 HP:0000540HypermetropiaHP:0040283
9 HP:0000601HypotelorismHP:0040283
10 HP:0000545MyopiaHP:0040283
11 HP:0001250SeizureHP:0040283
12 HP:0011069Supernumerary toothHP:0040283
13 HP:0000243Trigonocephaly
14 HP:0001199Triphalangeal thumbHP:0040283
15 HP:0011315Unicoronal synostosis
16 HP:0001123Visual field defectHP:0040283
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_002449.4(MSX2):c.443C>A (p.Pro148His)4488MSX2Pathogenic104893895RCV000018474; NMedGen:C1858160,OMIM:604757,ORPHA:15415174156225174156225NM_002449.4:c.443C>ANP_002440.2:p.Pro148HisNC_000005.9:g.174156225C>A,NC_000005.9:g.174156225C>TOMIM Allelic Variant:123101.0001C1858160 604757 Craniosynostosis 2
NM_002449.4(MSX2):c.443C>T (p.Pro148Leu)4488MSX2Pathogenic104893895RCV000203576; NMedGen:C1858160,OMIM:604757,ORPHA:15415174156225174156225NM_002449.4:c.443C>TNP_002440.2:p.Pro148LeuNC_000005.9:g.174156225C>A,NC_000005.9:g.174156225C>TOMIM Allelic Variant:123101.0009C1858160 604757 Craniosynostosis 2