KEGG   DISEASE: Lobodontia
Entry
H03061                      Disease                                
Name
Lobodontia
Description
Lobodontia (LBDT) is a rare dental anomaly characterized by supernumerary cusps and a single pyramid-shaped molar root. It has been reported that mutations in ASCL5 cause lobodontia. ASCL5 encodes a recently discovered bHLH transcription factor that plays a crucial role in tooth development.
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
     H03061  Lobodontia
Gene
ASCL5 [HSA:647219] [KO:K09067]
Other DBs
ICD-11: LA30.Y
OMIM: 187000
Reference
PMID:41673016
  Authors
Theerapanon T, Intarak N, Rattanapornsompong K, Thaweesapphithak S, Sriwattanapong K, Prommanee S, Kulvitit S, Skrinjaric T, Samaranayake L, Pongpanich M, Yeetong P, Chaivoravitsakul N, Mehl NS, Assawapitaksakul A, Srichomthong C, Chetruengchai W, Porntaveetus T, Shotelersuk V
  Title
A missense variant in ASCL5 leads to lobodontia.
  Journal
Nat Commun 17:10.1038/s41467-026-69323-1 (2026)
DOI:10.1038/s41467-026-69323-1
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