GenTIGSA Gene Database on Rare Genetic Disorders
  Beta Version

Select a RGD Category for details 

RGDs registry under the 'Oral disorders'
Disorder Name (Total=8) Aliases Sub-Category Gene Indian Reports Link
Dentinogenesis imperfecta type 2
Autosomal dominant
Tooth disorders DSPP dentin sialophosphoprotein
Reports
Updated as of Sep 15, 2022
PubMed
Isolated Pierre-Robin syndrome
Autosomal dominant
•Isolated Pierre Robin sequence
Cleft palate SNRPB small nuclear ribonucleoprotein polypeptides B and B1
Reports
Updated as of Sep 05, 2023
PubMed
Van der Woude syndrome 2
Autosomal dominant
•VWS2
Cleft palate GRHL3 grainyhead like transcription factor 3
Reports
Updated as of Nov 02, 2023
PubMed
Van der Woude syndrome 1
Autosomal dominant
•IRF6-Related disorders
Cleft palate IRF6 interferon regulatory factor 6
GRHL3 grainyhead like transcription factor 3
Reports
Updated as of Nov 02, 2023
PubMed
Amelogenesis imperfecta type 1G
Autosomal recessive
•Enamel renal syndrome
•Enamel-renal syndrome
•Enamel-Renal-Gingival syndeome
•Generalized enamel hypoplasia and renal dysfunction
Tooth disorders FAM20A FAM20A golgi associated secretory pathway pseudokinase
Reports
Updated as of Dec 29, 2023
PubMed
Solitary median maxillary central incisor
Autosomal dominant
•Fused incisors
•Single central incisor syndrome
•Single central maxillary incisor
•SMMCI syndrome
Tooth disorders SHH sonic hedgehog signaling molecule
Reports
Updated as of Dec 29, 2023
PubMed
Ramon syndrome
Autosomal recessive
•Gingival fibromatosis combined with cherubism
•Cherubism-gingival fibromatosis-intellectual disability syndrome
Mouth disorders ELMO2 engulfment and cell motility 2
Reports
Updated as of Jan 04, 2024
PubMed
Lacrimoauriculodentodigital syndrome
Autosomal dominant
•LADD syndrome
•Lacrimo-auriculo-dento-digital syndrome
•LARD syndrome
•Lacrimoauriculoradiodental syndrome
Tooth disorders FGF10 fibroblast growth factor 10
Reports
Updated as of Feb 01, 2024
PubMed