RGDs registry under the 'Oral disorders'
S.No. | Genetic Disorders | Aliases | Sub-Category | Gene symbol | Links | Indian context |
1 | Dentinogenesis imperfecta type 2 | Tooth disorders |
DSPP dentin sialophosphoprotein |
PubMed | Reports | |
2 | Isolated Pierre-Robin syndrome |
•Isolated Pierre Robin sequence |
Cleft palate |
SNRPB small nuclear ribonucleoprotein polypeptides B and B1 |
PubMed | Reports |
3 | Van der Woude syndrome 2 |
•VWS2 |
Cleft palate |
GRHL3 grainyhead like transcription factor 3 |
PubMed | Reports |
4 | Van der Woude syndrome 1 |
•IRF6-Related disorders |
Cleft palate |
IRF6 interferon regulatory factor 6 GRHL3 grainyhead like transcription factor 3 |
PubMed | Reports |
5 | Amelogenesis imperfecta type 1G |
•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 |
PubMed | Reports |
6 | Solitary median maxillary central incisor |
•Fused incisors •Single central incisor syndrome •Single central maxillary incisor •SMMCI syndrome |
Tooth disorders |
SHH sonic hedgehog signaling molecule |
PubMed | Reports |
7 | Ramon syndrome |
•Gingival fibromatosis combined with cherubism •Cherubism-gingival fibromatosis-intellectual disability syndrome |
Mouth disorders |
ELMO2 engulfment and cell motility 2 |
PubMed | Reports |
8 | Lacrimoauriculodentodigital syndrome |
•LADD syndrome •Lacrimo-auriculo-dento-digital syndrome •LARD syndrome •Lacrimoauriculoradiodental syndrome |
Tooth disorders |
FGF10 fibroblast growth factor 10 |
PubMed | Reports |
|