Dentinogenesis imperfecta type 3
Synonyms: Dentinogenesis imperfecta, Shields type 3
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
Dentinogenesis imperfecta type 3 (DGI-3) is a rare, severe form of dentinogenesis imperfecta (DGI) characterized by opalescent primary and permanent teeth, marked attrition, large pulp chambers, multiple pulp exposure and shell teeth radiographically (i.e. teeth which appear hollow due to dentin hypotrophy).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Dentinogenesis imperfecta type 3 | Dentinogenesis imperfecta, Shields type 3 |
| fr | Dentinogenèse imparfaite type 3 | Dentinogenèse imparfaite type Shields 3 |
| de | Dentinogenesis imperfecta Typ 3 | Dentinogenesis imperfecta Typ Shields III |
| es | Dentinogénesis imperfecta tipo 3 | Dentinogénesis imperfecta Shields tipo 3 · Dentinogénesis imperfecta de Shields tipo 3 |
| it | Dentinogenesi imperfetta, tipo 3 | Dentinogenesi imperfetta, tipo Shields 3 |
| nl | Dentinogenesis imperfecta type 3 | Dentinogenesis imperfecta, Shields-type 3 |
| pt | Dentinogénese imperfeita, tipo 3 | |
| pl | Dentinogenesis imperfecta typu 3 | Dentinogenesis imperfecta, Shieldsa type 3 |
| cs | Dentinogenesis imperfecta, typ 3 | Dentinogenesis imperfecta, Shieldsův typ 3 |
| uk | Недосконалий дентиногенез, тип 3 | Недосконалий дентиногенез, Щитки типу 3 |
| zh | 牙本质发育不全3型 | 牙本质发育不全Shields3型 |
| tr | Dentinogenesis imperfekta tip 3 | Dantinojenez bozukluğu, Shields tipi 3 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 125500 | E | validated | |
| ICD-10 | K00.5 | NTBT | attributed | validated |
| ICD-11 | LA30.8 | NTBT | index | validated |
| MONDO | 0007442 | E | validated | |
| MeSH | C538216 | E | validated | |
| UMLS | C0399378 | E | validated | |
| GARD | 10144 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:49042Dentinogenesis imperfecta
rare genetic diseases; rare odontological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DSPP | Disease-causing germline mutation(s) in | Assessed | HGNC:3054 | ENSG00000152591 | 125485 | 4q22.1 | dentin sialophosphoprotein |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/166265
- This record as JSON: /data/d/166265.json