GenTIGS

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
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 30, 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
Amelogenesis imperfecta hypomaturation type 2A3 Autosomal recessive	•Amelogenesis imperfecta, hypomaturation type, IIA3 •Amelogenesis imperfecta, type IIA3	Tooth disorders	WDR72 WD repeat domain 72	Reports Updated as of Feb 10, 2026	PubMed
White sponge nevus Autosomal dominant	•Hereditary leukokeratosis of mucosa •Familial white folded mucosal dysplasia •Hereditary oral keratosis •Hereditary white sponge nevus •white sponge nevus of mucosa •Hereditary mucosal leukokeratosis	Mucous membrane disorder	KRT13 keratin 13 KRT4 keratin 4	Reports Updated as of Apr 28, 2026	PubMed