Dentinogenesis imperfecta

Definicija

Dentinogenesis imperfecta (DGI) is a hereditary dentin defect (see this term) characterized by abnormal dentin structure resulting in abnormal tooth development.

Pretraga

Pun naziv

Dentinogenesis imperfecta

Kratki naziv

-

Sinonimi

Non-syndromic dentinogenesis imperfectaDINon-syndromic DGIDGIOpalescent teeth without OIDGI without OIOpalescent teeth without osteogenesis imperfectaDentinogenesis imperfecta without osteogenesis imperfecta

Orpha broj

49042

Kategorija

Podkategorija

Naziv na stranom jeziku

-

Prevalenca

1-5 / 10 000

Nasleđivanje

Autosomal dominant

Period početka bolesti

-

ICD 10

K00.5

OMIM

NULL

UMLS

C0011436  C2973527

GARD

6258

MEDDRA

10054013
Tekstualni opis
Signs of the condition are variable and there is significant overlap between different types of dentin dysplasia (DD, see this term) and dentinogenesis imperfecta. Three different types of DGI were originally described in the Shield's classification: DGI type 1, type 2 and type 3. The condition formerly known as DGI-1 is now considered to be a syndromic form of DGI associated with osteogenesis imperfecta types 1b,c, 2, 3, 4b, 9, and 10. In dentinogenesis imperfecta type 2 (DGI-2, see this term), osteogenesis imperfecta is not a feature and the condition is usually characterized by abnormal amber or opalescent dentin, worn teeth, bulbous crowns with cervical constriction, short roots, obliterated pulp chambers and root canals (visible on X-rays). Dentinogenesis imperfecta type 3 (DGI-3, see this term) is characterized by opalescent primary and permanent teeth, marked attrition, and large pulp chambers.
Etiologija
DGI is a hereditary condition caused by missense and nonsense mutations in the DSPP gene (4q21.3) encoding the major proteins involved in dentin formation.
Prognoza
bolest_prognoza
Diferencijalna dijagnoza
-
Tretman
-
Dijagnostičke metode
-
Antenatalna dijagnoza
-
Epidemiologija
Prevalence of DGI is reported to be 1/6,000 to 1/8,000.
Genetsko savetovanje
DGI follows an autosomal dominant pattern of inheritance.
Terapija
-
Klinička istraživanja
-