KEGG   DISEASE: Primary failure of tooth eruption
Entry
H00680                      Disease                                
Name
Primary failure of tooth eruption
Description
Primary failure of tooth eruption (PFE) is a condition in which tooth retention occurs without mechanical interference. Defects in PTHR1 are the cause of PFE.
Category
Digestive system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 13 Diseases of the digestive system
  Diseases or disorders of orofacial complex
   DA07  Disorders of tooth development or eruption
    H00680  Primary failure of tooth eruption
Pathway
hsa04080  Neuroactive ligand-receptor interaction
hsa04961  Endocrine and other factor-regulated calcium reabsorption
Gene
PTHR1 [HSA:5745] [KO:K04585]
Other DBs
ICD-11: DA07.6
MeSH: C565114
OMIM: 125350
Reference
PMID:17041084
  Authors
Ahmad S, Bister D, Cobourne MT
  Title
The clinical features and aetiological basis of primary eruption failure.
  Journal
Eur J Orthod 28:535-40 (2006)
DOI:10.1093/ejo/cjl033
Reference
PMID:19419448
  Authors
Proffit WR, Frazier-Bowers SA
  Title
Mechanism and control of tooth eruption: overview and clinical implications.
  Journal
Orthod Craniofac Res 12:59-66 (2009)
DOI:10.1111/j.1601-6343.2009.01438.x
Reference
PMID:19061984
  Authors
Decker E, Stellzig-Eisenhauer A, Fiebig BS, Rau C, Kress W, Saar K, Ruschendorf F, Hubner N, Grimm T, Weber BH
  Title
PTHR1 loss-of-function mutations in familial, nonsyndromic primary failure of tooth eruption.
  Journal
Am J Hum Genet 83:781-6 (2008)
DOI:10.1016/j.ajhg.2008.11.006
LinkDB

» Japanese version

DBGET integrated database retrieval system