|
DGI3
MCID: DNT044
MIFTS: 19
|
Dentinogenesis Imperfecta, Shields Type Iii (DGI3)
Categories:
Genetic diseases, Oral diseases, Rare diseases
|
|
|
|
MalaCards integrated aliases for Dentinogenesis Imperfecta, Shields Type Iii:
Characteristics:Orphanet epidemiological data:59
dentinogenesis imperfecta type 3
Inheritance: Autosomal dominant; Age of onset: Childhood; OMIM:57
Inheritance:
autosomal dominant
Miscellaneous:
occurs in a southern maryland tri-racial inbred population known as the "brandywine isolate" shields classification - type 1 - associated with osteogenesis imperfecta type 2 - hereditary opalescent dentin, not associated with bone defect type 3 - brandywine isolate opalescent dentin HPO:32Classifications:
ICD10:
34
|
|
UniProtKB/Swiss-Prot
:
75
Dentinogenesis imperfecta, Shields type 3: A form of dentinogenesis imperfecta, an autosomal dominant dentin disorder characterized by amber-brown, opalescent teeth that fracture and shed their enamel during mastication, thereby exposing the dentin to rapid wear. Radiographically, the crown appears bulbous and pulpal obliteration is common. The pulp chambers are initially larger than normal prior and immediately after tooth eruption, and then progressively close down to become almost obliterated by abnormal dentin formation. Roots are short and thin. Both primary and permanent teeth are affected. DGI3 teeth typically manifest multiple periapical radiolucencies. DGI3 is not associated with osteogenesis imperfecta.
MalaCards based summary : Dentinogenesis Imperfecta, Shields Type Iii, also known as dentinogenesis imperfecta - shield's type iii, is related to dentinogenesis imperfecta type 3. An important gene associated with Dentinogenesis Imperfecta, Shields Type Iii is DSPP (Dentin Sialophosphoprotein). Affiliated tissues include bone, and related phenotypes are shell teeth and periapical bone loss
Description from OMIM:
125500
|
Diseases related to Dentinogenesis Imperfecta, Shields Type Iii via text searches within MalaCards or GeneCards Suite gene sharing:
|
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:125500Human phenotypes related to Dentinogenesis Imperfecta, Shields Type Iii:32
|
|
|
MalaCards organs/tissues related to Dentinogenesis Imperfecta, Shields Type Iii:41
Bone
|
Genes related to Dentinogenesis Imperfecta, Shields Type Iii (1 elite genes):
- Elite gene
- Cancer Census gene in COSMIC
|
UniProtKB/Swiss-Prot genetic disease variations for Dentinogenesis Imperfecta, Shields Type Iii:75
ClinVar genetic disease variations for Dentinogenesis Imperfecta, Shields Type Iii:6
|
|
Search
GEO
for disease gene expression data for Dentinogenesis Imperfecta, Shields Type Iii.
|
|
|
|