KEGG   DISEASE: Taurodontism, microdontia, and dens invaginatus
Entry
H03055                      Disease                                
Name
Taurodontism, microdontia, and dens invaginatus
Description
Taurodontism, microdontia, and dens invaginatus (TMDI) is a novel X-linked recessive syndrome. It has been reported that mutations in KIF4A cause this syndrome. KIF4A encodes an ATP-dependent microtubule-based motor protein that participates in the intracellular transport of membranous organelles.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Structural developmental anomalies primarily affecting one body system
   Structural developmental anomalies of the face, mouth or teeth
    LA30  Structural developmental anomalies of teeth and periodontal tissues
     H03055  Taurodontism, microdontia, and dens invaginatus
Gene
KIF4A [HSA:24137] [KO:K10395]
Other DBs
ICD-11: LA30.Y
OMIM: 313490
Reference
PMID:31616463
  Authors
Gowans LJJ, Cameron-Christie S, Slayton RL, Busch T, Romero-Bustillos M, Eliason S, Sweat M, Sobreira N, Yu W, Kantaputra PN, Wohler E, Adeyemo WL, Lachke SA, Anand D, Campbell C, Drummond BK, Markie DM, van Vuuren WJ, van Vuuren LJ, Casamassimo PS, Ettinger R, Owais A, van Staden I, Amendt BA, Adeyemo AA, Murray JC, Robertson SP, Butali A
  Title
Missense Pathogenic variants in KIF4A Affect Dental Morphogenesis Resulting in X-linked Taurodontism, Microdontia and Dens-Invaginatus.
  Journal
Front Genet 10:800 (2019)
DOI:10.3389/fgene.2019.00800
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